##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\170216_M03301_0077_000000000-AWHP9\Data\Intensities\BaseCalls\Alignment\HG5r4_S3.bam] read_buffer_size=null phone_home=NO_ET gatk_key=null read_filter=[] intervals=[D:\Illumina\MiSeqAnalysis\170216_M03301_0077_000000000-AWHP9\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 HG5r4 chr1 2337032 rs1129171 C T 5410.86 PASS AC=2;AF=1.00;AN=2;DP=206;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.7148;MQ=50.44;MQ0=0;QD=26.27;SB=-3955.31;TI=NM_153818,NM_002617;GI=PEX10,PEX10;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,206:206:99:5411,388,0:1.000:99 chr1 2340200 rs2494598 T C 8275.97 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.461;DP=341;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.6925;MQ=51.10;MQ0=0;MQRankSum=0.242;QD=24.27;ReadPosRankSum=0.877;SB=-6288.83;TI=NM_153818,NM_002617;GI=PEX10,PEX10;FC=Synonymous_T97T,Synonymous_T97T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,338:341:99:8276,545,0:0.994:99 chr1 5926507 rs555164 T C 5256.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.016;DP=453;Dels=0.00;FS=4.108;HRun=0;HaplotypeScore=30.7494;MQ=49.97;MQ0=0;MQRankSum=0.678;QD=11.60;ReadPosRankSum=-1.310;SB=-3745.64;TI=NM_015102;GI=NPHP4;FC=Synonymous_E1190E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:210,243:453:99:5257,0,4485:0.536:99 chr1 5937168 rs3747992 G A 2820.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.822;DP=270;Dels=0.00;FS=0.944;HRun=0;HaplotypeScore=18.9030;MQ=47.52;MQ0=0;MQRankSum=-0.678;QD=10.45;ReadPosRankSum=0.775;SB=-1893.01;TI=NM_015102;GI=NPHP4;FC=Synonymous_R934R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:136,133:270:99:2850,0,3067:0.494:99 chr1 6526857 . TA T 548.09 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.004;DP=215;FS=0.000;HRun=15;HaplotypeScore=454.2607;MQ=47.46;MQ0=0;MQRankSum=2.118;QD=2.55;ReadPosRankSum=0.576;SB=-257.95;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 0/1:121,51:215:99:587,0,2162:0.297:99 chr1 6579653 rs41278014 G C 6048.32 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.836;DP=232;Dels=0.00;FS=3.106;HRun=0;HaplotypeScore=17.2278;MQ=51.37;MQ0=0;MQRankSum=0.045;QD=26.07;ReadPosRankSum=-1.329;SB=-4274.44;TI=NM_198681;GI=PLEKHG5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,231:232:99:6048,405,0:0.996:99 chr1 12009955 rs7529452 C T 16638.72 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.253;DP=662;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=36.3214;MQ=49.10;MQ0=0;MQRankSum=0.452;QD=25.13;ReadPosRankSum=-0.707;SB=-12721.57;TI=NM_000302;GI=PLOD1;FC=Synonymous_F98F;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,657:662:99:16639,1099,0:0.995:99 chr1 12024235 rs1130529 C T 14052.20 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.373;DP=588;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=23.9644;MQ=49.10;MQ0=0;MQRankSum=-0.778;QD=23.90;ReadPosRankSum=0.407;SB=-11102.29;TI=NM_000302;GI=PLOD1;FC=Synonymous_N402N;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,586:588:99:14052,948,0:0.997:99 chr1 21889635 rs1780316 T C 6718.05 PASS AC=2;AF=1.00;AN=2;DP=274;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.2129;MQ=51.55;MQ0=0;QD=24.52;SB=-4817.59;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 1/1:0,271:274:99:6718,473,0:1.000:99 chr1 21894735 rs3200254 T C 2868.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.463;DP=308;Dels=0.00;FS=2.544;HRun=0;HaplotypeScore=8.9135;MQ=47.90;MQ0=0;MQRankSum=-0.852;QD=9.31;ReadPosRankSum=-1.296;SB=-1737.70;TI=NM_000478,NM_001177520,NM_001127501;GI=ALPL,ALPL,ALPL;FC=Missense_Y263H,Missense_Y186H,Missense_Y208H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:173,134:308:99:2899,0,3947:0.436:99 chr1 21900171 rs3200255 A G 2135.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.302;DP=256;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=3.5764;MQ=45.43;MQ0=0;MQRankSum=-1.326;QD=8.34;ReadPosRankSum=0.901;SB=-1608.42;TI=NM_000478,NM_001177520,NM_001127501;GI=ALPL,ALPL,ALPL;FC=Synonymous_P292P,Synonymous_P215P,Synonymous_P237P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:147,109:256:99:2165,0,3162:0.426:99 chr1 21904267 rs1697406 A G 1174.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.948;DP=100;Dels=0.00;FS=1.640;HRun=1;HaplotypeScore=12.8011;MQ=55.87;MQ0=0;MQRankSum=1.637;QD=11.75;ReadPosRankSum=-0.782;SB=-690.39;TI=NM_000478,NM_001177520,NM_001127501;GI=ALPL,ALPL,ALPL;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:50,50:100:99:1205,0,1273:0.500:99 chr1 21904529 rs2242420 C T 1260.91 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.075;DP=143;Dels=0.00;FS=0.638;HRun=1;HaplotypeScore=7.1416;MQ=52.92;MQ0=0;MQRankSum=-0.388;QD=8.82;ReadPosRankSum=-0.550;SB=-860.60;TI=NM_000478,NM_001177520,NM_001127501;GI=ALPL,ALPL,ALPL;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:79,62:143:99:1291,0,1857:0.440:99 chr1 21904574 rs2242421 A G 1645.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.461;DP=115;Dels=0.00;FS=4.806;HRun=0;HaplotypeScore=12.0771;MQ=50.34;MQ0=0;MQRankSum=-0.501;QD=14.30;ReadPosRankSum=-2.026;SB=-913.90;TI=NM_000478,NM_001177520,NM_001127501;GI=ALPL,ALPL,ALPL;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,70:115:99:1675,0,1105:0.609:99 chr1 22149935 rs897467 T C 1725.42 PASS AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.8955;MQ=57.95;MQ0=0;QD=31.37;SB=-698.35;TI=NM_001013693,NM_005529;GI=LDLRAD2,HSPG2;FC=Silent,Synonymous_S4350S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,55:55:99:1758,132,0:1.000:99 chr1 22191454 rs897471 G A 8862.57 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.711;DP=336;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=22.8079;MQ=52.19;MQ0=0;MQRankSum=1.526;QD=26.38;ReadPosRankSum=-0.258;SB=-6177.18;TI=NM_005529;GI=HSPG2;FC=Missense_A1503V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,335:336:99:8863,629,0:0.997:99 chr1 22199245 rs2229482 C T 4150.94 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.496;DP=382;Dels=0.00;FS=1.691;HRun=0;HaplotypeScore=18.4198;MQ=52.77;MQ0=0;MQRankSum=1.042;QD=10.87;ReadPosRankSum=0.778;SB=-2947.25;TI=NM_005529;GI=HSPG2;FC=Synonymous_V1299V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:190,192:382:99:4151,0,4230:0.503:99 chr1 22206649 rs989994 T C 7968.18 PASS AC=2;AF=1.00;AN=2;DP=292;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.1189;MQ=52.10;MQ0=0;QD=27.29;SB=-4980.18;TI=NM_005529;GI=HSPG2;FC=Missense_N765S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,292:292:99:7968,566,0:1.000:99 chr1 22206942 rs1874793 G A 14389.45 PASS AC=2;AF=1.00;AN=2;DP=570;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.2147;MQ=48.73;MQ0=0;QD=25.24;SB=-10641.87;TI=NM_005529;GI=HSPG2;FC=Synonymous_A703A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,569:570:99:14389,1014,0:1.000:99 chr1 22207235 rs1874792 T C 12035.04 PASS AC=2;AF=1.00;AN=2;DP=446;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=20.4447;MQ=50.86;MQ0=0;QD=26.98;SB=-8220.29;TI=NM_005529;GI=HSPG2;FC=Missense_M638V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,445:446:99:12035,864,0:1.000:99 chr1 22214127 rs2229478 A G 8406.82 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.405;DP=336;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.0135;MQ=48.65;MQ0=0;MQRankSum=-1.070;QD=25.02;ReadPosRankSum=-0.610;SB=-5744.49;TI=NM_005529;GI=HSPG2;FC=Synonymous_L248L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,334:336:99:8407,551,0:0.994:99 chr1 22217108 rs2501260 G A 10968.44 PASS AC=2;AF=1.00;AN=2;DP=428;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=35.7882;MQ=51.13;MQ0=0;QD=25.63;SB=-7484.52;TI=NM_005529;GI=HSPG2;FC=Synonymous_F108F;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,427:428:99:10968,789,0:1.000:99 chr1 24128467 rs11714 C T 10077.37 PASS AC=2;AF=1.00;AN=2;DP=411;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.2946;MQ=50.32;MQ0=0;QD=24.52;SB=-7781.88;TI=NM_000191,NM_001166059;GI=HMGCL,HMGCL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,411:411:99:10077,701,0:1.000:99 chr1 24134721 rs719400 T C 8733.24 PASS AC=2;AF=1.00;AN=2;DP=332;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.0453;MQ=51.54;MQ0=0;QD=26.30;SB=-6396.33;TI=NM_000191,NM_001166059;GI=HMGCL,HMGCL;FC=Synonymous_L218L,Synonymous_L147L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,332:332:99:8733,617,0:1.000:99 chr1 24180962 rs13551 T C 3958.86 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.938;DP=366;Dels=0.00;FS=3.355;HRun=1;HaplotypeScore=15.8126;MQ=47.43;MQ0=0;MQRankSum=0.189;QD=10.82;ReadPosRankSum=0.009;SB=-2819.90;TI=NM_000147;GI=FUCA1;FC=Missense_Q286R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:183,183:366:99:3959,0,4119:0.500:99 chr1 26126680 rs12121707 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=37.00;MQ0=0;QD=7.46;SB=-40.01;TI=NM_020451,NM_206926;GI=SEPN1,SEPN1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:3.01:45,3,0:1.000:3 chr1 26131654 rs7349185 G A 8348.19 PASS AC=2;AF=1.00;AN=2;DP=335;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.7993;MQ=49.33;MQ0=0;QD=24.92;SB=-6138.46;TI=NM_020451,NM_206926;GI=SEPN1,SEPN1;FC=Missense_C142Y,Missense_C108Y;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,335:335:99:8348,581,0:1.000:99 chr1 26138262 rs760597 T C 11860.90 PASS AC=2;AF=1.00;AN=2;DP=476;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=19.9961;MQ=51.04;MQ0=0;QD=24.92;SB=-8588.72;TI=NM_020451,NM_206926;GI=SEPN1,SEPN1;FC=Synonymous_P391P,Synonymous_P357P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,474:476:99:11861,831,0:1.000:99 chr1 26140573 rs2294228 C A 10288.20 PASS AC=2;AF=1.00;AN=2;DP=408;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=14.7414;MQ=50.69;MQ0=0;QD=25.22;SB=-7671.79;TI=NM_020451,NM_206926;GI=SEPN1,SEPN1;FC=Missense_N502K,Missense_N468K;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,406:408:99:10288,725,0:1.000:99 chr1 26143704 rs3033477 A ATTTTG 13125.85 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.580;DP=204;FS=2.069;HRun=0;HaplotypeScore=103.2702;MQ=55.20;MQ0=2;MQRankSum=0.059;QD=64.34;ReadPosRankSum=-2.314;SB=-6482.36;TI=NM_020451,NM_206926;GI=SEPN1,SEPN1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:19,184:200:99:13126,352,0:0.906:99 chr1 26143821 rs1139710;rs3203750 T C 1042.29 PASS AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7882;MQ=56.97;MQ0=0;QD=32.57;SB=-230.66;TI=NM_020451,NM_206926;GI=SEPN1,SEPN1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,32:32:84.23:1075,84,0:1.000:84 chr1 26143931 rs4659383 T C 801.08 PASS AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=49.78;MQ0=1;QD=28.61;SB=-314.76;TI=NM_020451,NM_206926;GI=SEPN1,SEPN1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,28:28:63.20:834,63,0:1.000:63 chr1 26144004 . C T 188.86 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.354;DP=54;Dels=0.00;FS=60.112;HRun=0;HaplotypeScore=6.3539;MQ=49.08;MQ0=0;MQRankSum=-5.096;QD=3.50;ReadPosRankSum=-5.116;SB=-0.01;TI=NM_020451,NM_206926;GI=SEPN1,SEPN1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,13:54:99:219,0,1225:0.245:99 chr1 26144013 . T C 193.71 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.416;DP=54;Dels=0.00;FS=65.853;HRun=0;HaplotypeScore=5.3645;MQ=49.08;MQ0=0;MQRankSum=-5.179;QD=3.59;ReadPosRankSum=-4.613;SB=-0.01;TI=NM_020451,NM_206926;GI=SEPN1,SEPN1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,13:54:99:224,0,1261:0.241:99 chr1 26144674 rs6872 G A 2565.41 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.194;DP=308;Dels=0.00;FS=3.160;HRun=0;HaplotypeScore=11.7533;MQ=45.85;MQ0=0;MQRankSum=-2.397;QD=8.33;ReadPosRankSum=3.724;SB=-1835.76;TI=NM_020451,NM_206926;GI=SEPN1,SEPN1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:178,130:308:99:2595,0,3850:0.422:99 chr1 40539076 rs1126973 C T 3769.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.493;DP=402;Dels=0.00;FS=3.805;HRun=2;HaplotypeScore=21.0689;MQ=46.33;MQ0=0;MQRankSum=0.240;QD=9.38;ReadPosRankSum=0.756;SB=-2647.59;TI=NM_001142604,NM_000310;GI=PPT1,PPT1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:221,181:402:99:3770,0,4744:0.450:99 chr1 40539203 rs3841663 A ATGAT 3350.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=7.385;DP=135;FS=4.182;HRun=0;HaplotypeScore=304.5745;MQ=53.53;MQ0=0;MQRankSum=-1.108;QD=24.82;ReadPosRankSum=2.712;SB=-1569.93;TI=NM_001142604,NM_000310;GI=PPT1,PPT1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:83,51:135:99:3351,0,4626:0.381:99 chr1 40539228 rs1126972 G C 1958.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.204;DP=177;Dels=0.00;FS=2.681;HRun=0;HaplotypeScore=8.2374;MQ=52.87;MQ0=0;MQRankSum=0.940;QD=11.07;ReadPosRankSum=0.543;SB=-1215.25;TI=NM_001142604,NM_000310;GI=PPT1,PPT1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,82:177:99:1989,0,2341:0.463:99 chr1 40539448 rs1126970 A C 2582.77 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.284;DP=199;Dels=0.00;FS=0.528;HRun=1;HaplotypeScore=10.9386;MQ=52.52;MQ0=0;MQRankSum=1.570;QD=12.98;ReadPosRankSum=2.269;SB=-1317.35;TI=NM_001142604,NM_000310;GI=PPT1,PPT1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:97,102:199:99:2613,0,2490:0.513:99 chr1 40562993 rs6600313 T C 6317.43 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.561;DP=571;Dels=0.00;FS=1.348;HRun=1;HaplotypeScore=37.0848;MQ=52.41;MQ0=0;MQRankSum=1.153;QD=11.06;ReadPosRankSum=0.402;SB=-4282.37;TI=NM_001142604,NM_000310;GI=PPT1,PPT1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:300,270:571:99:6317,0,7002:0.474:99 chr1 43212111 rs6882 C T 2521.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.752;DP=212;Dels=0.00;FS=0.515;HRun=1;HaplotypeScore=11.8624;MQ=51.68;MQ0=0;MQRankSum=1.209;QD=11.89;ReadPosRankSum=-1.488;SB=-1748.06;TI=NM_001146289,NM_022356;GI=LEPRE1,LEPRE1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,117:212:99:2551,0,2095:0.552:99 chr1 43212431 rs4660662 A G 3912.11 PASS AC=2;AF=1.00;AN=2;DP=162;Dels=0.00;FS=0.000;HRun=6;HaplotypeScore=10.2376;MQ=48.34;MQ0=0;QD=24.15;SB=-2923.91;TI=NM_001146289,NM_022356;GI=LEPRE1,LEPRE1;FC=Silent,Synonymous_G716G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,162:162:99:3912,277,0:1.000:99 chr1 43215930 rs11581921 C T 2124.67 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.802;DP=210;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5006;MQ=50.88;MQ0=0;MQRankSum=1.870;QD=10.12;ReadPosRankSum=-1.679;SB=-1647.36;TI=NM_001146289,NM_022356;GI=LEPRE1,LEPRE1;FC=Missense_M549I,Missense_M549I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:107,103:210:99:2155,0,2243:0.490:99 chr1 43232699 . C A 3827.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.834;DP=365;Dels=0.00;FS=1.727;HRun=1;HaplotypeScore=17.3872;MQ=48.52;MQ0=0;MQRankSum=-0.487;QD=10.49;ReadPosRankSum=-1.086;SB=-2755.46;TI=NM_001146289,NM_022356;GI=LEPRE1,LEPRE1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:189,174:365:99:3828,0,4231:0.479:99 chr1 43819140 . T A 18.90 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.720;DP=6;Dels=0.00;FS=3.979;HRun=0;HaplotypeScore=0.8667;MQ=28.37;MQ0=0;MQRankSum=0.720;QD=3.15;ReadPosRankSum=-0.720;SB=-0.01;TI=NM_005373;GI=MPL;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,2:6:48.84:49,0,102:0.333:18 chr1 43819148 . T G 22.03 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5067;MQ=29.00;MQ0=0;MQRankSum=0.358;QD=4.41;ReadPosRankSum=-1.231;SB=0.00;TI=NM_005373;GI=MPL;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,2:5:51.99:52,0,55:0.400:22 chr1 43819153 . G A 19.05 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.380;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5046;MQ=27.17;MQ0=0;MQRankSum=0.720;QD=3.18;ReadPosRankSum=-0.720;SB=-0.01;TI=NM_005373;GI=MPL;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,2:6:48.99:49,0,76:0.333:19 chr1 43819157 . C T 24.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.720;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3960;MQ=27.17;MQ0=0;MQRankSum=0.720;QD=4.14;ReadPosRankSum=-0.720;SB=-0.01;TI=NM_005373;GI=MPL;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,2:6:54.83:55,0,55:0.333:24 chr1 43819160 . T C 21.87 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.720;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3960;MQ=27.17;MQ0=0;MQRankSum=1.380;QD=3.64;ReadPosRankSum=-0.720;SB=-0.01;TI=NM_005373;GI=MPL;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,2:6:51.83:52,0,79:0.333:21 chr1 43819161 . G A 24.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3960;MQ=27.17;MQ0=0;MQRankSum=1.231;QD=4.14;ReadPosRankSum=-0.358;SB=-0.01;TI=NM_005373;GI=MPL;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,2:6:54.83:55,0,55:0.400:24 chr1 43819168 . T A 24.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.720;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4611;MQ=27.17;MQ0=0;MQRankSum=-0.720;QD=4.14;ReadPosRankSum=-1.380;SB=0.00;TI=NM_005373;GI=MPL;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,2:6:51.03:55,0,51:0.333:24 chr1 43819169 . G C 27.86 LowGQ;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DP=6;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.4780;MQ=27.17;MQ0=0;MQRankSum=1.231;QD=4.64;ReadPosRankSum=-1.231;SB=-0.01;TI=NM_005373;GI=MPL;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,2:6:24.41:58,0,24:0.400:24 chr1 43819174 . A G 22.98 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.720;DP=6;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.3451;MQ=27.17;MQ0=0;MQRankSum=0.000;QD=3.83;ReadPosRankSum=-1.380;SB=-0.01;TI=NM_005373;GI=MPL;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,2:6:52.95:53,0,55:0.333:22 chr1 44290530 rs37458 A G 8844.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.014;DP=742;Dels=0.00;FS=1.152;HRun=0;HaplotypeScore=27.3141;MQ=51.01;MQ0=0;MQRankSum=2.233;QD=11.92;ReadPosRankSum=0.430;SB=-6108.29;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 0/1:367,375:742:99:8844,0,8440:0.505:99 chr1 44396196 rs12561948 A G 1933.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.618;DP=191;Dels=0.00;FS=1.800;HRun=0;HaplotypeScore=29.9477;MQ=55.40;MQ0=0;MQRankSum=3.221;QD=10.12;ReadPosRankSum=2.821;SB=-1195.18;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 0/1:104,87:191:99:1964,0,2295:0.455:99 chr1 44396646 rs6801 C G 1101.65 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.489;DP=83;Dels=0.00;FS=1.837;HRun=0;HaplotypeScore=4.7771;MQ=53.18;MQ0=0;MQRankSum=-0.871;QD=13.27;ReadPosRankSum=0.207;SB=-766.84;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 0/1:35,48:83:99:1132,0,958:0.578:99 chr1 45973928 rs2275276 G A 3368.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.777;DP=299;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.6468;MQ=46.27;MQ0=0;MQRankSum=-0.642;QD=11.27;ReadPosRankSum=-0.541;SB=-2665.02;TI=NM_015506;GI=MMACHC;FC=Synonymous_V107V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:137,161:299:99:3369,0,2869:0.540:99 chr1 45975088 . G GT 271.48 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=2.477;DP=110;FS=2.610;HRun=16;HaplotypeScore=574.6385;MQ=47.16;MQ0=0;MQRankSum=-0.828;QD=2.47;ReadPosRankSum=1.140;SB=-115.48;TI=NM_015506;GI=MMACHC;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:58,19:110:99:311,0,863:0.247:99 chr1 45975300 rs12021717 G A 33.16 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.221;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=46.26;MQ0=0;MQRankSum=-1.517;QD=4.15;ReadPosRankSum=-0.684;SB=-30.29;TI=NM_015506;GI=MMACHC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,3:8:63.16:63,0,114:0.375:33 chr1 45975739 rs33996053 ACT A 1712.10 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.116;DP=83;FS=1.813;HRun=0;HaplotypeScore=310.1559;MQ=46.68;MQ0=1;MQRankSum=-0.988;QD=20.63;ReadPosRankSum=-1.136;SB=-807.21;TI=NM_015506;GI=MMACHC;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,36:82:99:1751,0,1785:0.439:99 chr1 45975748 . CAA C 64.85 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.273;DP=90;FS=7.431;HRun=16;HaplotypeScore=466.7600;MQ=46.44;MQ0=1;MQRankSum=-1.826;QD=0.72;ReadPosRankSum=-1.987;SB=-15.36;TI=NM_015506;GI=MMACHC;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:64,9:89:99:104,0,1803:0.123:64 chr1 45975856 rs11580609 C G 718.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.069;DP=68;Dels=0.00;FS=6.746;HRun=0;HaplotypeScore=0.8941;MQ=49.99;MQ0=0;MQRankSum=0.282;QD=10.56;ReadPosRankSum=1.010;SB=-445.35;TI=NM_015506;GI=MMACHC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,33:68:99:748,0,904:0.493:99 chr1 45976147 rs882803 G A 2247.15 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.078;DP=247;Dels=0.00;FS=0.476;HRun=0;HaplotypeScore=18.1060;MQ=47.95;MQ0=0;MQRankSum=-0.376;QD=9.10;ReadPosRankSum=0.670;SB=-1453.60;TI=NM_015506;GI=MMACHC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:144,102:247:99:2277,0,3279:0.415:99 chr1 45976263 rs5773883 C CT 1680.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.035;DP=104;FS=1.624;HRun=0;HaplotypeScore=101.2261;MQ=54.86;MQ0=0;MQRankSum=2.536;QD=16.16;ReadPosRankSum=2.820;SB=-703.14;TI=NM_015506;GI=MMACHC;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:56,44:104:99:1719,0,2198:0.440:99 chr1 45976472 rs7903 G C 3601.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.165;DP=350;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=14.4906;MQ=46.97;MQ0=0;MQRankSum=-1.654;QD=10.29;ReadPosRankSum=-3.316;SB=-2537.89;TI=NM_015506;GI=MMACHC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:182,166:350:99:3602,0,3785:0.477:99 chr1 45976587 rs1044717 A G 2876.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.142;DP=254;Dels=0.00;FS=0.475;HRun=0;HaplotypeScore=10.2431;MQ=52.84;MQ0=0;MQRankSum=1.433;QD=11.33;ReadPosRankSum=-0.142;SB=-1518.56;TI=NM_015506;GI=MMACHC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:135,119:254:99:2907,0,3417:0.469:99 chr1 46655158 rs6659553 T C 10118.63 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.400;DP=399;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=28.1901;MQ=50.96;MQ0=0;MQRankSum=2.314;QD=25.36;ReadPosRankSum=0.145;SB=-7182.32;TI=NM_017739,NR_024332;GI=POMGNT1,POMGNT1;FC=Missense_M623V,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,396:399:99:10119,716,0:0.995:99 chr1 46660295 rs2292487 T C 5246.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.384;DP=502;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=30.2753;MQ=49.44;MQ0=0;MQRankSum=-2.525;QD=10.45;ReadPosRankSum=1.585;SB=-3762.63;TI=NM_017739,NR_024332;GI=POMGNT1,POMGNT1;FC=Synonymous_K227K,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:253,248:502:99:5247,0,5557:0.495:99 chr1 53676448 rs1799821 G A 3777.85 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.888;DP=335;Dels=0.00;FS=3.564;HRun=0;HaplotypeScore=18.1586;MQ=47.63;MQ0=0;MQRankSum=1.055;QD=11.28;ReadPosRankSum=2.663;SB=-2500.16;TI=NM_000098;GI=CPT2;FC=Missense_V368I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:160,175:335:99:3778,0,3247:0.522:99 chr1 53679229 rs1799822 A G 3768.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.698;DP=416;Dels=0.00;FS=1.597;HRun=0;HaplotypeScore=12.9152;MQ=48.17;MQ0=0;MQRankSum=-2.508;QD=9.06;ReadPosRankSum=0.461;SB=-2727.98;TI=NM_000098;GI=CPT2;FC=Missense_M647V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:230,186:416:99:3768,0,5181:0.447:99 chr1 55315351 rs657688 T C 8400.08 PASS AC=2;AF=1.00;AN=2;DP=336;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=19.4528;MQ=47.42;MQ0=0;QD=25.00;SB=-5997.72;TI=NM_014762;GI=DHCR24;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,335:336:99:8400,593,0:1.000:99 chr1 55316082 rs654561 A C 9897.71 PASS AC=2;AF=1.00;AN=2;DP=416;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.4518;MQ=47.34;MQ0=0;QD=23.79;SB=-7901.26;TI=NM_014762;GI=DHCR24;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,416:416:99:9898,686,0:1.000:99 chr1 55319902 rs718265 A G 13891.00 PASS AC=2;AF=1.00;AN=2;DP=553;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.4622;MQ=50.74;MQ0=0;QD=25.12;SB=-10260.28;TI=NM_014762;GI=DHCR24;FC=Synonymous_I342I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,553:553:99:13891,969,0:1.000:99 chr1 63881552 rs4630153 C T 18390.82 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.468;DP=630;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=28.2556;MQ=53.41;MQ0=0;MQRankSum=0.096;QD=29.19;ReadPosRankSum=1.594;SB=-11869.11;TI=NM_013339;GI=ALG6;FC=Missense_S304F;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,628:629:99:18391,1310,0:0.998:99 chr1 63903452 rs3009572 T C 11522.50 PASS AC=2;AF=1.00;AN=2;DP=383;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=56.4817;MQ=52.25;MQ0=0;QD=30.08;SB=-4042.59;TI=NM_013339;GI=ALG6;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,378:380:99:11522,849,0:1.000:99 chr1 67465371 . T TA 652.11 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.219;DP=503;FS=0.000;HRun=13;HaplotypeScore=989.3713;MQ=55.91;MQ0=0;MQRankSum=1.541;QD=1.30;ReadPosRankSum=-1.429;SB=-108.05;TI=NM_015139;GI=SLC35D1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:372,75:503:99:691,0,6601:0.168:99 chr1 67465791 . G A 47.56 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.427;DP=89;Dels=0.01;FS=16.238;HRun=15;HaplotypeScore=65.4491;MQ=47.45;MQ0=0;MQRankSum=-0.230;QD=0.53;ReadPosRankSum=-0.480;SB=-0.01;TI=NM_015139;GI=SLC35D1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:78,10:88:77.55:78,0,1709:0.114:47 chr1 67465791 . G GA 319.29 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.878;DP=89;FS=3.375;HRun=15;HaplotypeScore=239.6527;MQ=47.45;MQ0=0;MQRankSum=1.047;QD=3.59;ReadPosRankSum=0.553;SB=-115.16;TI=NM_015139;GI=SLC35D1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,20:89:99:358,0,692:0.290:99 chr1 67466606 . C A 9171.62 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=6.603;DP=774;Dels=0.00;FS=3.730;HRun=0;HaplotypeScore=36.8901;MQ=52.06;MQ0=0;MQRankSum=1.738;QD=11.85;ReadPosRankSum=-0.674;SB=-6746.77;TI=NM_015139;GI=SLC35D1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:362,411:774:99:9172,0,7704:0.532:99 chr1 67468124 rs2065000 G C 8281.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.938;DP=792;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=36.6980;MQ=50.65;MQ0=0;MQRankSum=2.947;QD=10.46;ReadPosRankSum=3.343;SB=-5942.75;TI=NM_015139;GI=SLC35D1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:415,375:792:99:8281,0,9769:0.475:99 chr1 67520059 rs71849659 CCA C 3493.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.745;DP=178;FS=1.175;HRun=0;HaplotypeScore=257.2785;MQ=50.66;MQ0=0;MQRankSum=1.431;QD=19.63;ReadPosRankSum=2.377;SB=-1531.64;TI=NM_015139;GI=SLC35D1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:99,78:178:99:3494,0,4334:0.441:99 chr1 76229326 rs1146587 T C 15302.07 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.113;DP=569;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=31.6746;MQ=55.96;MQ0=0;MQRankSum=2.316;QD=26.89;ReadPosRankSum=0.455;SB=-9046.61;TI=NM_000016,NM_001127328;GI=ACADM,ACADM;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,566:569:99:15302,1080,0:0.996:99 chr1 97543752 rs291593 G A 5790.93 PASS AC=2;AF=1.00;AN=2;DP=219;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1527;MQ=52.11;MQ0=0;QD=26.44;SB=-3947.91;TI=NM_000110;GI=DPYD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,219:219:99:5791,409,0:1.000:99 chr1 97543764 rs291592 C T 7940.24 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.137;DP=314;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.2574;MQ=49.07;MQ0=0;MQRankSum=-1.379;QD=25.29;ReadPosRankSum=2.340;SB=-6034.53;TI=NM_000110;GI=DPYD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,312:314:99:7940,518,0:0.994:99 chr1 97543959 rs1042482 C T 3138.08 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.852;DP=294;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=13.6699;MQ=54.16;MQ0=0;MQRankSum=-1.533;QD=10.67;ReadPosRankSum=0.152;SB=-1373.35;TI=NM_000110;GI=DPYD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:163,131:294:99:3168,0,4467:0.446:99 chr1 98185527 rs2151562 A G 6752.06 PASS AC=2;AF=1.00;AN=2;DP=259;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.8233;MQ=49.47;MQ0=0;QD=26.07;SB=-4932.14;TI=NM_000110,NM_001160301;GI=DPYD,DPYD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,259:259:99:6752,479,0:1.000:99 chr1 98185722 rs61786598 A T 1570.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.019;DP=110;Dels=0.02;FS=1.680;HRun=0;HaplotypeScore=32.2149;MQ=49.75;MQ0=0;MQRankSum=0.611;QD=14.27;ReadPosRankSum=1.265;SB=-692.11;TI=NM_000110,NM_001160301;GI=DPYD,DPYD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,63:108:99:1600,0,932:0.583:99 chr1 98185724 rs61786599 A T 1321.48 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.215;DP=119;Dels=0.00;FS=12.782;HRun=0;HaplotypeScore=32.2149;MQ=49.05;MQ0=0;MQRankSum=1.056;QD=11.10;ReadPosRankSum=2.157;SB=-401.78;TI=NM_000110,NM_001160301;GI=DPYD,DPYD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:62,57:119:99:1351,0,1479:0.479:99 chr1 98186077 rs1333718 T C 7303.77 PASS AC=2;AF=1.00;AN=2;DP=260;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=19.1777;MQ=56.15;MQ0=0;QD=28.09;SB=-4981.65;TI=NM_000110,NM_001160301;GI=DPYD,DPYD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,260:260:99:7304,527,0:1.000:99 chr1 98186229 rs55684412 T C 4224.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.614;DP=416;Dels=0.00;FS=0.736;HRun=0;HaplotypeScore=9.8076;MQ=51.31;MQ0=0;MQRankSum=0.825;QD=10.16;ReadPosRankSum=0.154;SB=-3040.35;TI=NM_000110,NM_001160301;GI=DPYD,DPYD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:223,193:416:99:4224,0,5156:0.464:99 chr1 98348885 rs1801265 G A 10711.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.743;DP=938;Dels=0.00;FS=3.658;HRun=0;HaplotypeScore=23.1042;MQ=49.38;MQ0=0;MQRankSum=1.037;QD=11.42;ReadPosRankSum=-1.135;SB=-7984.77;TI=NM_000110,NM_001160301;GI=DPYD,DPYD;FC=Missense_R29C,Missense_R29C;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:459,478:938:99:10712,0,10050:0.510:99 chr1 100316589 rs2307130 A G 22978.42 PASS AC=2;AF=1.00;AN=2;DP=823;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=25.8327;MQ=53.46;MQ0=1;QD=27.92;SB=-15180.56;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 1/1:0,822:823:99:22978,1643,0:1.000:99 chr1 100336361 rs2230306 C T 16827.37 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.342;DP=644;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=35.9680;MQ=52.95;MQ0=0;MQRankSum=1.755;QD=26.13;ReadPosRankSum=1.088;SB=-11589.83;TI=NM_000642,NM_000028,NM_000643,NM_000644,NM_000646,NM_000645;GI=AGL,AGL,AGL,AGL,AGL,AGL;FC=Synonymous_L298L,Synonymous_L298L,Synonymous_L298L,Synonymous_L298L,Synonymous_L282L,Synonymous_L281L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,637:644:99:16827,1198,0:0.997:99 chr1 100340787 rs17121464 G A 7222.77 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.292;DP=566;Dels=0.00;FS=0.307;HRun=1;HaplotypeScore=19.8687;MQ=52.83;MQ0=0;MQRankSum=2.314;QD=12.76;ReadPosRankSum=0.150;SB=-4885.66;TI=NM_000642,NM_000028,NM_000643,NM_000644,NM_000646,NM_000645;GI=AGL,AGL,AGL,AGL,AGL,AGL;FC=Missense_R387Q,Missense_R387Q,Missense_R387Q,Missense_R387Q,Missense_R371Q,Missense_R370Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:253,313:566:99:7223,0,5966:0.553:99 chr1 100387479 rs1804808 G T 21634.24 PASS AC=2;AF=1.00;AN=2;DP=776;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=54.5836;MQ=57.06;MQ0=0;QD=27.88;SB=-14042.39;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 1/1:0,773:774:99:21634,1559,0:1.000:99 chr1 100387939 rs3766600 C T 21709.47 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.450;DP=801;Dels=0.00;FS=3.016;HRun=1;HaplotypeScore=54.7054;MQ=54.43;MQ0=0;MQRankSum=1.043;QD=27.10;ReadPosRankSum=-0.280;SB=-15333.05;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 1/1:5,793:800:99:21709,1490,0:0.994:99 chr1 100388235 rs3766601 C T 20266.97 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.241;DP=657;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=29.0935;MQ=56.51;MQ0=0;MQRankSum=1.962;QD=30.85;ReadPosRankSum=0.720;SB=-8419.48;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 1/1:5,652:657:99:20267,1343,0:0.992:99 chr1 100388503 rs1804809 A C 18382.42 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.495;DP=638;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=33.6901;MQ=54.89;MQ0=0;MQRankSum=0.782;QD=28.81;ReadPosRankSum=0.154;SB=-10383.99;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 1/1:3,635:638:99:18382,1262,0:0.995:99 chr1 100388748 rs3766603 T C 16687.58 PASS AC=2;AF=1.00;AN=2;DP=575;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.5321;MQ=50.56;MQ0=1;QD=29.02;SB=-9425.79;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 1/1:0,573:575:99:16688,1213,0:1.000:99 chr1 100653256 . ATT A 129.09 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.841;DP=72;FS=1.026;HRun=17;HaplotypeScore=385.9955;MQ=53.27;MQ0=0;MQRankSum=-0.115;QD=1.79;ReadPosRankSum=0.237;SB=-32.67;TI=NM_001918;GI=DBT;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,6:72:99:168,0,1046:0.113:99 chr1 100654907 . TAA T,TA 1456.19 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-1.837;DP=91;FS=0.000;HaplotypeScore=567.7801;MQ=42.96;MQ0=0;MQRankSum=0.647;QD=16.00;ReadPosRankSum=-0.509;SB=-734.28;TI=NM_001918;GI=DBT;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:24,34,0:89:99:1534,173,111,765,0,614:0.586:99 chr1 100654911 . A T 44.85 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.818;DP=91;Dels=0.00;FS=5.232;HRun=0;HaplotypeScore=73.8289;MQ=42.61;MQ0=0;MQRankSum=0.126;QD=0.49;ReadPosRankSum=1.230;SB=-0.01;TI=NM_001918;GI=DBT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:82,9:91:74.84:75,0,2143:0.099:44 chr1 100655583 rs4281338 T A 4688.79 PASS AC=2;AF=1.00;AN=2;DP=154;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=5.6755;MQ=57.98;MQ0=0;QD=30.45;SB=-2709.12;TI=NM_001918;GI=DBT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,153:154:99:4689,346,0:1.000:99 chr1 100656265 rs11166412 C T 7734.09 PASS AC=2;AF=1.00;AN=2;DP=289;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.8776;MQ=56.17;MQ0=0;QD=26.76;SB=-4439.09;TI=NM_001918;GI=DBT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,289:289:99:7734,554,0:1.000:99 chr1 100656494 rs11166413 A G 2124.48 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.403;DP=177;Dels=0.00;FS=3.743;HRun=1;HaplotypeScore=18.0643;MQ=56.77;MQ0=0;MQRankSum=0.713;QD=12.00;ReadPosRankSum=-1.403;SB=-885.85;TI=NM_001918;GI=DBT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:89,87:177:99:2154,0,2412:0.494:99 chr1 100656661 rs6701655 T C 8962.66 PASS AC=2;AF=1.00;AN=2;DP=325;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=49.57;MQ0=0;QD=27.58;SB=-5105.74;TI=NM_001918;GI=DBT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,325:325:99:8963,641,0:1.000:99 chr1 100657505 . AT A 646.95 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.765;DP=132;FS=0.662;HRun=14;HaplotypeScore=244.8206;MQ=48.85;MQ0=0;MQRankSum=-0.715;QD=4.90;ReadPosRankSum=-0.626;SB=-338.35;TI=NM_001918;GI=DBT;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:74,37:132:99:686,0,1337:0.333:99 chr1 100658578 rs2784174 G A 4018.06 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.679;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4635;MQ=54.35;MQ0=0;MQRankSum=1.705;QD=30.91;ReadPosRankSum=1.652;SB=-2160.62;TI=NM_001918;GI=DBT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,129:130:99:4018,275,0:0.992:99 chr1 100659894 . G GT 85.84 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=2.134;DP=71;FS=0.000;HRun=15;HaplotypeScore=204.8845;MQ=42.79;MQ0=0;MQRankSum=-0.637;QD=1.21;ReadPosRankSum=-0.900;SB=-36.57;TI=NM_001918;GI=DBT;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,13:71:99:125,0,706:0.241:85 chr1 100672060 rs12021720 T C 11877.12 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.594;DP=453;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=16.3872;MQ=50.36;MQ0=0;MQRankSum=1.563;QD=26.22;ReadPosRankSum=1.012;SB=-7477.86;TI=NM_001918;GI=DBT;FC=Missense_S384G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,451:453:99:11877,838,0:0.998:99 chr1 115576023 rs10776792 A G 10446.81 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.667;DP=426;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2799;MQ=51.60;MQ0=0;MQRankSum=1.724;QD=24.52;ReadPosRankSum=1.691;SB=-7711.89;TI=NM_000549;GI=TSHB;FC=Missense_T14A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,425:426:99:10447,728,0:0.998:99 chr1 150771703 rs10788796 T C 13163.74 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.699;DP=520;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=25.5370;MQ=50.77;MQ0=0;MQRankSum=0.100;QD=25.31;ReadPosRankSum=-0.194;SB=-8529.10;TI=NM_000396;GI=CTSK;FC=Synonymous_A277A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,517:520:99:13164,930,0:0.998:99 chr1 154245142 rs11265425 T G 3055.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.112;DP=299;Dels=0.00;FS=0.428;HRun=0;HaplotypeScore=18.9509;MQ=50.24;MQ0=0;MQRankSum=-1.380;QD=10.22;ReadPosRankSum=-1.097;SB=-2127.31;TI=NM_001018837,NM_006118;GI=HAX1,HAX1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:159,140:299:99:3086,0,3645:0.468:99 chr1 155214473 rs12034326 A G 5513.48 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.208;DP=546;Dels=0.00;FS=5.946;HRun=3;HaplotypeScore=27.4755;MQ=51.94;MQ0=0;MQRankSum=1.524;QD=10.10;ReadPosRankSum=-0.501;SB=-3130.26;TI=NM_001171811,NM_001005742,NM_001005741;GI=GBA,GBA,GBA;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:308,236:546:99:5513,0,7415:0.434:99 chr1 155214640 rs3841430 CGA C 4026.85 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-3.180;DP=436;FS=0.494;HRun=0;HaplotypeScore=585.7471;MQ=49.77;MQ0=0;MQRankSum=-0.223;QD=9.24;ReadPosRankSum=-0.767;SB=-1521.32;TI=NM_001171811,NM_001005742,NM_001005741;GI=GBA,GBA,GBA;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:307,99:430:99:4027,0,3456:0.244:99 chr1 155259323 rs8847 C T 3167.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.436;DP=338;Dels=0.00;FS=4.251;HRun=0;HaplotypeScore=30.7056;MQ=48.57;MQ0=0;MQRankSum=-0.833;QD=9.37;ReadPosRankSum=1.288;SB=-2370.23;TI=NM_020897,NM_181871,NM_000298;GI=HCN3,PKLR,PKLR;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:181,155:338:99:3197,0,3945:0.461:99 chr1 155260096 rs932972 G A 4001.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.904;DP=402;Dels=0.00;FS=0.367;HRun=0;HaplotypeScore=20.7142;MQ=49.31;MQ0=0;MQRankSum=2.032;QD=9.95;ReadPosRankSum=1.375;SB=-2855.85;TI=NM_181871,NM_000298;GI=PKLR,PKLR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:207,194:402:99:4002,0,4223:0.484:99 chr1 155260350 rs1052177 A G 789.98 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.116;DP=90;Dels=0.00;FS=9.711;HRun=3;HaplotypeScore=13.6084;MQ=47.89;MQ0=0;MQRankSum=1.821;QD=8.78;ReadPosRankSum=0.993;SB=-239.40;TI=NM_181871,NM_000298;GI=PKLR,PKLR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:55,35:90:99:820,0,1240:0.389:99 chr1 155260383 rs1052176 G T 1811.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.165;DP=186;Dels=0.00;FS=1.141;HRun=0;HaplotypeScore=2.8832;MQ=46.09;MQ0=0;MQRankSum=0.636;QD=9.74;ReadPosRankSum=-2.571;SB=-1355.42;TI=NM_181871,NM_000298;GI=PKLR,PKLR;FC=Synonymous_R538R,Synonymous_R569R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:96,90:186:99:1841,0,1974:0.484:99 chr1 156107534 rs4641 C T 2216.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.487;DP=192;Dels=0.00;FS=0.536;HRun=0;HaplotypeScore=11.8281;MQ=43.72;MQ0=0;MQRankSum=-2.789;QD=11.54;ReadPosRankSum=-1.529;SB=-1660.51;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 0/1:89,103:192:99:2246,0,1797:0.536:99 chr1 156108491 . C T 943.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.360;DP=65;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.8936;MQ=49.51;MQ0=0;MQRankSum=0.945;QD=14.52;ReadPosRankSum=1.135;SB=-698.74;TI=NM_170707,NM_170708;GI=LMNA,LMNA;FC=Synonymous_F637F,Synonymous_F607F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,41:65:99:974,0,535:0.631:99 chr1 156785617 rs1800601 G A 8748.73 PASS AC=2;AF=1.00;AN=2;DP=358;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.6141;MQ=49.07;MQ0=0;QD=24.44;SB=-6664.63;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 1/1:0,357:358:99:8749,611,0:1.000:99 chr1 167399962 rs947480 T C 9577.11 PASS AC=2;AF=1.00;AN=2;DP=366;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.5855;MQ=51.13;MQ0=0;QD=26.17;SB=-5832.45;TI=NM_000734,NM_198053;GI=CD247,CD247;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,366:366:99:9577,674,0:1.000:99 chr1 167400074 rs1052231 T A 2507.44 PASS AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=57.10;MQ0=0;QD=30.58;SB=-1599.43;TI=NM_000734,NM_198053;GI=CD247,CD247;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,82:82:99:2540,187,0:1.000:99 chr1 179519880 rs1060775 T C 874.08 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.894;DP=60;Dels=0.00;FS=2.300;HRun=0;HaplotypeScore=12.0761;MQ=56.15;MQ0=0;MQRankSum=0.880;QD=14.57;ReadPosRankSum=-0.554;SB=-365.20;TI=NM_144696,NM_014625;GI=C1orf125,NPHS2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,30:60:99:904,0,986:0.500:99 chr1 179520108 rs2274623 C T 2516.65 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.506;DP=187;Dels=0.00;FS=1.887;HRun=0;HaplotypeScore=10.7291;MQ=56.02;MQ0=0;MQRankSum=1.427;QD=13.46;ReadPosRankSum=-0.765;SB=-1700.17;TI=NM_144696,NM_014625;GI=C1orf125,NPHS2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:75,112:187:99:2547,0,1716:0.599:99 chr1 179520151 rs1410590 C T 1452.85 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.126;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.51;MQ0=0;MQRankSum=-0.294;QD=17.72;ReadPosRankSum=1.556;SB=-273.69;TI=NM_144696,NM_014625;GI=C1orf125,NPHS2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,46:82:99:1483,0,1114:0.561:99 chr1 179544898 rs1079292 T C 3140.13 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.621;DP=246;Dels=0.00;FS=0.483;HRun=2;HaplotypeScore=8.5834;MQ=46.18;MQ0=0;MQRankSum=-0.749;QD=12.76;ReadPosRankSum=1.606;SB=-1913.61;TI=NM_014625;GI=NPHS2;FC=Synonymous_G34G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:102,142:246:99:3170,0,2177:0.582:99 chr1 183155228 rs2276544 C A 2276.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.786;DP=163;Dels=0.00;FS=5.124;HRun=0;HaplotypeScore=4.5047;MQ=50.39;MQ0=0;MQRankSum=0.904;QD=13.97;ReadPosRankSum=0.189;SB=-1648.19;TI=NM_018891,NM_005562;GI=LAMC2,LAMC2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:54,109:163:99:2307,0,1128:0.669:99 chr1 183155305 rs2276543 G A 4192.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.026;DP=431;Dels=0.00;FS=0.735;HRun=1;HaplotypeScore=19.3830;MQ=46.99;MQ0=0;MQRankSum=-0.327;QD=9.73;ReadPosRankSum=1.177;SB=-2755.30;TI=NM_018891,NM_005562;GI=LAMC2,LAMC2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:237,194:431:99:4192,0,5096:0.450:99 chr1 183155399 rs2276542 A G 3294.12 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.316;DP=309;Dels=0.00;FS=1.348;HRun=0;HaplotypeScore=12.8662;MQ=51.05;MQ0=0;MQRankSum=-2.363;QD=10.66;ReadPosRankSum=1.330;SB=-2503.42;TI=NM_018891,NM_005562;GI=LAMC2,LAMC2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:155,154:309:99:3294,0,3354:0.498:99 chr1 183184616 rs2274980 C T 2849.10 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.672;DP=293;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.0961;MQ=46.23;MQ0=0;MQRankSum=1.657;QD=9.72;ReadPosRankSum=-2.019;SB=-2074.91;TI=NM_018891,NM_005562;GI=LAMC2,LAMC2;FC=Synonymous_S99S,Synonymous_S99S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:160,133:293:99:2879,0,3451:0.454:99 chr1 183187603 rs1129723 C T 3368.66 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.708;DP=296;Dels=0.00;FS=0.429;HRun=1;HaplotypeScore=5.3371;MQ=49.09;MQ0=0;MQRankSum=-1.988;QD=11.38;ReadPosRankSum=1.153;SB=-2087.13;TI=NM_018891,NM_005562;GI=LAMC2,LAMC2;FC=Synonymous_V161V,Synonymous_V161V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:149,147:296:99:3369,0,3354:0.497:99 chr1 183192304 rs1047980 T G 5810.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.302;DP=527;Dels=0.00;FS=4.824;HRun=2;HaplotypeScore=21.1599;MQ=48.89;MQ0=0;MQRankSum=-0.111;QD=11.03;ReadPosRankSum=0.757;SB=-3637.39;TI=NM_018891,NM_005562;GI=LAMC2,LAMC2;FC=Synonymous_G266G,Synonymous_G266G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:265,261:527:99:5811,0,5860:0.496:99 chr1 183201970 rs2296303 G C 4161.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.032;DP=365;Dels=0.00;FS=0.380;HRun=0;HaplotypeScore=19.1104;MQ=49.60;MQ0=0;MQRankSum=-0.541;QD=11.40;ReadPosRankSum=1.611;SB=-2733.54;TI=NM_018891,NM_005562;GI=LAMC2,LAMC2;FC=Missense_S733T,Missense_S733T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:184,181:365:99:4162,0,4065:0.496:99 chr1 183206573 rs1047981 G A 9469.72 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=5.200;DP=799;Dels=0.00;FS=4.086;HRun=2;HaplotypeScore=36.3614;MQ=50.88;MQ0=0;MQRankSum=1.596;QD=11.85;ReadPosRankSum=1.987;SB=-5873.86;TI=NM_018891,NM_005562;GI=LAMC2,LAMC2;FC=Synonymous_Q896Q,Synonymous_Q896Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:393,405:799:99:9470,0,8952:0.508:99 chr1 183212548 rs3768593 T G 4488.72 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.211;DP=429;Dels=0.00;FS=4.216;HRun=0;HaplotypeScore=9.9406;MQ=47.93;MQ0=0;MQRankSum=0.496;QD=10.46;ReadPosRankSum=1.215;SB=-3500.01;TI=NM_005562;GI=LAMC2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:215,214:429:99:4489,0,4643:0.499:99 chr1 183213410 rs10797863 G T 2643.78 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.823;DP=175;Dels=0.00;FS=2.078;HRun=0;HaplotypeScore=12.9643;MQ=57.69;MQ0=0;MQRankSum=2.265;QD=15.11;ReadPosRankSum=2.061;SB=-1061.69;TI=NM_005562;GI=LAMC2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:79,96:175:99:2674,0,2147:0.549:99 chr1 209788514 rs2566 G A 872.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.847;DP=75;Dels=0.00;FS=0.863;HRun=0;HaplotypeScore=4.6711;MQ=49.27;MQ0=0;MQRankSum=0.165;QD=11.63;ReadPosRankSum=0.516;SB=-677.42;TI=NM_001017402,NM_001127641,NM_000228;GI=LAMB3,LAMB3,LAMB3;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,41:75:99:902,0,769:0.547:99 chr1 209788703 rs1049607 T C 2986.84 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.387;DP=279;Dels=0.00;FS=0.919;HRun=1;HaplotypeScore=16.7290;MQ=45.31;MQ0=0;MQRankSum=0.714;QD=10.71;ReadPosRankSum=-0.433;SB=-2223.28;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 0/1:133,146:279:99:3017,0,2878:0.523:99 chr1 209799253 rs2179402 A G 1866.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.260;DP=204;Dels=0.00;FS=4.896;HRun=0;HaplotypeScore=3.6532;MQ=47.39;MQ0=0;MQRankSum=-2.085;QD=9.15;ReadPosRankSum=0.135;SB=-1253.36;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 0/1:116,88:204:99:1896,0,2567:0.431:99 chr1 209801480 . G A 1901.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.858;DP=233;Dels=0.00;FS=1.038;HRun=0;HaplotypeScore=11.0237;MQ=45.68;MQ0=0;MQRankSum=-0.803;QD=8.16;ReadPosRankSum=-1.396;SB=-1438.86;TI=NM_001017402,NM_001127641,NM_000228;GI=LAMB3,LAMB3,LAMB3;FC=Synonymous_T396T,Synonymous_T396T,Synonymous_T396T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:139,94:233:99:1932,0,3109:0.403:99 chr1 209811886 rs2076356 T G 4408.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.433;DP=441;Dels=0.00;FS=0.715;HRun=1;HaplotypeScore=16.5526;MQ=46.43;MQ0=0;MQRankSum=-0.948;QD=10.00;ReadPosRankSum=-1.027;SB=-3423.55;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 0/1:227,214:441:99:4408,0,4881:0.485:99 chr1 209823354 rs3764781 G A 3412.98 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.227;DP=354;Dels=0.00;FS=1.767;HRun=1;HaplotypeScore=13.7076;MQ=47.99;MQ0=0;MQRankSum=-1.066;QD=9.64;ReadPosRankSum=0.574;SB=-2280.04;TI=NM_001017402,NM_001127641,NM_000228;GI=LAMB3,LAMB3,LAMB3;FC=Synonymous_T46T,Synonymous_T46T,Synonymous_T46T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:189,164:354:99:3413,0,4123:0.465:99 chr1 215798014 rs2797255 G A 10057.88 PASS AC=2;AF=1.00;AN=2;DP=361;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.3638;MQ=51.25;MQ0=0;QD=27.86;SB=-4907.76;TI=NM_206933;GI=USH2A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,359:361:99:10058,722,0:1.000:99 chr1 215848641 rs2797235 T C 10767.67 PASS AC=2;AF=1.00;AN=2;DP=428;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=21.9350;MQ=49.68;MQ0=0;QD=25.16;SB=-8197.35;TI=NM_206933;GI=USH2A;FC=Synonymous_T4204T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,427:428:99:10768,761,0:1.000:99 chr1 215960167 rs10864198 T G 5038.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.147;DP=434;Dels=0.00;FS=2.524;HRun=0;HaplotypeScore=20.9585;MQ=47.33;MQ0=0;MQRankSum=-3.145;QD=11.61;ReadPosRankSum=0.438;SB=-3727.52;TI=NM_206933;GI=USH2A;FC=Missense_E3411A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:199,235:434:99:5039,0,4258:0.541:99 chr1 216172380 rs10864219 A G 11439.51 PASS AC=2;AF=1.00;AN=2;DP=392;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=23.3142;MQ=50.26;MQ0=0;QD=29.18;SB=-5768.97;TI=NM_206933;GI=USH2A;FC=Missense_I2169T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,391:392:99:11440,828,0:1.000:99 chr1 216219781 rs6657250 A G 7366.74 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.143;DP=300;Dels=0.00;FS=3.346;HRun=0;HaplotypeScore=15.6712;MQ=44.14;MQ0=0;MQRankSum=-0.843;QD=24.56;ReadPosRankSum=-0.797;SB=-5347.51;TI=NM_206933;GI=USH2A;FC=Missense_I2106T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,299:300:99:7367,481,0:0.997:99 chr1 216258065 . A G 4599.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.953;DP=451;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=22.0915;MQ=50.08;MQ0=0;MQRankSum=2.266;QD=10.20;ReadPosRankSum=2.860;SB=-3112.43;TI=NM_206933;GI=USH2A;FC=Synonymous_N1714N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:249,202:451:99:4599,0,5423:0.448:99 chr1 216347452 rs401269 C A 6641.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=5.125;DP=569;Dels=0.00;FS=1.002;HRun=1;HaplotypeScore=30.5126;MQ=52.54;MQ0=0;MQRankSum=4.499;QD=11.67;ReadPosRankSum=3.455;SB=-3411.62;TI=NM_206933,NM_007123;GI=USH2A,USH2A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:300,269:569:99:6641,0,7740:0.473:99 chr1 216347556 rs439940 A G 6751.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.530;DP=593;Dels=0.00;FS=2.513;HRun=0;HaplotypeScore=23.2928;MQ=55.10;MQ0=0;MQRankSum=2.383;QD=11.39;ReadPosRankSum=0.849;SB=-4006.18;TI=NM_206933,NM_007123;GI=USH2A,USH2A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:319,274:593:99:6752,0,7494:0.462:99 chr1 216348764 rs1805049 C T 4679.31 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.085;DP=470;Dels=0.00;FS=0.700;HRun=1;HaplotypeScore=22.3692;MQ=52.63;MQ0=0;MQRankSum=0.807;QD=9.96;ReadPosRankSum=-0.345;SB=-3279.67;TI=NM_206933,NM_007123;GI=USH2A,USH2A;FC=Missense_R1486K,Missense_R1486K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:258,210:470:99:4679,0,5767:0.449:99 chr1 216592003 rs4253963 T C 19113.67 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.625;DP=748;Dels=0.00;FS=2.237;HRun=1;HaplotypeScore=35.7414;MQ=50.87;MQ0=0;MQRankSum=0.594;QD=25.55;ReadPosRankSum=0.619;SB=-13011.88;TI=NM_206933,NM_007123;GI=USH2A,USH2A;FC=Synonymous_T168T,Synonymous_T168T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:5,743:748:99:19114,1299,0:0.993:99 chr1 216595306 rs10779261 C T 6727.50 PASS AC=2;AF=1.00;AN=2;DP=286;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2586;MQ=50.29;MQ0=0;QD=23.52;SB=-5337.32;TI=NM_206933,NM_007123;GI=USH2A,USH2A;FC=Missense_A125T,Missense_A125T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,286:286:99:6727,464,0:1.000:99 chr1 220323793 . CTT C 333.96 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.725;DP=94;FS=0.000;HRun=20;HaplotypeScore=450.1787;MQ=43.48;MQ0=0;MQRankSum=0.581;QD=3.55;ReadPosRankSum=-1.116;SB=-107.26;TI=NM_012414;GI=RAB3GAP2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:59,12:94:99:373,0,985:0.169:99 chr1 220323851 . C T 1352.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.715;DP=133;Dels=0.00;FS=3.326;HRun=1;HaplotypeScore=37.3402;MQ=49.08;MQ0=0;MQRankSum=2.048;QD=10.17;ReadPosRankSum=2.516;SB=-711.59;TI=NM_012414;GI=RAB3GAP2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:71,59:133:99:1383,0,1679:0.454:99 chr1 225607144 rs2230419 C T 10232.31 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.385;DP=389;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=14.9154;MQ=50.71;MQ0=0;MQRankSum=1.652;QD=26.30;ReadPosRankSum=1.554;SB=-6826.75;TI=NM_002296,NM_194442;GI=LBR,LBR;FC=Missense_S154N,Missense_S154N;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,388:389:99:10232,698,0:0.997:99 chr1 225609884 rs1056608 A G 11407.25 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.357;DP=453;Dels=0.00;FS=3.172;HRun=4;HaplotypeScore=56.5259;MQ=51.64;MQ0=0;MQRankSum=2.379;QD=25.18;ReadPosRankSum=0.619;SB=-8200.89;TI=NM_002296,NM_194442;GI=LBR,LBR;FC=Synonymous_P87P,Synonymous_P87P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,448:452:99:11407,796,0:0.996:99 chr1 225611661 rs1056607 C T 20543.91 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.709;DP=758;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=29.0935;MQ=49.84;MQ0=0;MQRankSum=1.659;QD=27.10;ReadPosRankSum=1.421;SB=-13819.67;TI=NM_002296,NM_194442;GI=LBR,LBR;FC=Synonymous_V39V,Synonymous_V39V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,756:758:99:20544,1463,0:0.999:99 chr1 227174902 rs8159 G A 211.62 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.529;DP=12;Dels=0.00;FS=3.802;HRun=1;HaplotypeScore=3.5489;MQ=58.05;MQ0=0;MQRankSum=0.529;QD=17.63;ReadPosRankSum=0.831;SB=-0.01;TI=NM_020247;GI=ADCK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,7:12:99:242,0,158:0.583:99 chr1 227175119 rs10482 G A 1134.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.599;DP=133;Dels=0.00;FS=1.477;HRun=0;HaplotypeScore=4.7769;MQ=54.05;MQ0=0;MQRankSum=1.557;QD=8.53;ReadPosRankSum=-0.766;SB=-538.12;TI=NM_020247;GI=ADCK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:82,51:133:99:1164,0,1964:0.383:99 chr1 228345824 . G T 21.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.573;DP=9;Dels=0.00;FS=3.680;HRun=0;HaplotypeScore=4.6255;MQ=35.04;MQ0=0;MQRankSum=-2.054;QD=2.43;ReadPosRankSum=1.422;SB=-0.01;TI=NM_020435;GI=GJC2;FC=Missense_R122L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,3:9:51.82:52,0,114:0.333:21 chr1 228345833 . G T 64.46 LowGQ;LowGQX;SB;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=29.00;MQ0=0;MQRankSum=-0.727;QD=16.11;ReadPosRankSum=0.727;SB=-0.01;TI=NM_020435;GI=GJC2;FC=Missense_R125L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,3:4:9.02:96,9,0:0.750:9 chr1 228345834 . A G 51.63 LowGQ;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DP=4;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;MQRankSum=-0.727;QD=12.91;ReadPosRankSum=0.727;SB=-0.01;TI=NM_020435;GI=GJC2;FC=Synonymous_R125R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,3:4:13.67:82,0,14:0.750:13 chr1 228345835 . G T 58.52 LowGQ;LowGQX;SB;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=29.00;MQ0=0;MQRankSum=0.727;QD=14.63;ReadPosRankSum=0.727;SB=-0.01;TI=NM_020435;GI=GJC2;FC=Missense_A126S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,3:4:9.01:91,9,0:0.750:9 chr1 228345841 . C 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_020435;GI=GJC2;FC=Missense_L128V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,3:3:9.02:100,9,0:1.000:9 chr1 228347352 rs6668719 A G 7096.72 PASS AC=2;AF=1.00;AN=2;DP=275;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.7201;MQ=47.78;MQ0=0;QD=25.81;SB=-5320.26;TI=NM_020435;GI=GJC2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,275:275:99:7097,500,0:1.000:99 chr1 236030155 . A T 44.72 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.547;DP=171;Dels=0.00;FS=35.020;HRun=0;HaplotypeScore=9.2863;MQ=45.60;MQ0=0;MQRankSum=-5.158;QD=0.26;ReadPosRankSum=-5.620;SB=-0.01;TI=NM_000081;GI=LYST;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:156,12:171:74.72:75,0,3531:0.071:44 chr1 236030158 . T C 67.62 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.942;DP=175;Dels=0.00;FS=38.304;HRun=1;HaplotypeScore=10.9271;MQ=45.24;MQ0=0;MQRankSum=-5.545;QD=0.39;ReadPosRankSum=-5.431;SB=-0.01;TI=NM_000081;GI=LYST;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:162,13:175:97.61:98,0,3710:0.074:67 chr1 236030161 . G C 76.62 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.151;DP=175;Dels=0.00;FS=37.855;HRun=1;HaplotypeScore=12.6259;MQ=45.24;MQ0=0;MQRankSum=-5.590;QD=0.44;ReadPosRankSum=-5.215;SB=-0.01;TI=NM_000081;GI=LYST;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:162,13:175:99:107,0,3647:0.074:76 chr2 26413917 rs7260 C T 4068.84 PASS AC=2;AF=1.00;AN=2;DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5489;MQ=52.38;MQ0=0;QD=26.59;SB=-2468.55;TI=NM_000182;GI=HADHA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,153:153:99:4069,289,0:1.000:99 chr2 31749714 rs1042578 C T 3143.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.627;DP=350;Dels=0.00;FS=0.396;HRun=0;HaplotypeScore=30.0493;MQ=50.69;MQ0=0;MQRankSum=1.397;QD=8.98;ReadPosRankSum=0.253;SB=-2272.22;TI=NM_000348;GI=SRD5A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:203,146:350:99:3174,0,4383:0.418:99 chr2 31750113 . T TA 434.85 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.673;DP=155;FS=2.152;HRun=14;HaplotypeScore=288.5445;MQ=56.27;MQ0=0;MQRankSum=0.714;QD=2.81;ReadPosRankSum=0.415;SB=-209.00;TI=NM_000348;GI=SRD5A2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:98,32:155:99:474,0,1799:0.246:99 chr2 31750417 rs9332975 T C 2826.20 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.262;DP=281;Dels=0.00;FS=1.439;HRun=1;HaplotypeScore=17.3175;MQ=47.96;MQ0=0;MQRankSum=-0.679;QD=10.06;ReadPosRankSum=0.728;SB=-2083.19;TI=NM_000348;GI=SRD5A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:150,131:281:99:2856,0,3321:0.466:99 chr2 31751166 . C T 229.23 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=1.135;DP=80;Dels=0.00;FS=1.167;HRun=0;HaplotypeScore=8.7779;MQ=51.22;MQ0=0;MQRankSum=-4.226;QD=2.87;ReadPosRankSum=-4.369;SB=-91.07;TI=NM_000348;GI=SRD5A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:67,13:80:99:259,0,1953:0.163:99 chr2 31751174 . C T 468.95 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.934;DP=92;Dels=0.02;FS=3.552;HRun=0;HaplotypeScore=18.4147;MQ=49.55;MQ0=0;MQRankSum=-4.924;QD=5.10;ReadPosRankSum=-2.699;SB=-156.45;TI=NM_000348;GI=SRD5A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,22:90:99:499,0,1984:0.244:99 chr2 31751175 . G A 642.65 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.195;DP=82;Dels=0.02;FS=6.790;HRun=0;HaplotypeScore=18.4147;MQ=51.04;MQ0=0;MQRankSum=-6.214;QD=7.84;ReadPosRankSum=-4.454;SB=-263.33;TI=NM_000348;GI=SRD5A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:54,25:80:99:673,0,1566:0.316:99 chr2 31751178 . A T 846.80 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.663;DP=97;Dels=0.00;FS=0.835;HRun=0;HaplotypeScore=14.3905;MQ=51.57;MQ0=0;MQRankSum=-6.178;QD=8.73;ReadPosRankSum=-4.317;SB=-400.33;TI=NM_000348;GI=SRD5A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:62,34:97:99:877,0,1613:0.354:99 chr2 31805706 rs523349 G C 9445.46 PASS AC=2;AF=1.00;AN=2;DP=335;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.4620;MQ=49.90;MQ0=0;QD=28.20;SB=-4460.62;TI=NM_000348;GI=SRD5A2;FC=Synonymous_A88A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,335:335:99:9445,686,0:1.000:99 chr2 31805880 . A AG 16862.35 PASS AC=2;AF=1.00;AN=2;DP=429;FS=0.000;HRun=2;HaplotypeScore=385.5133;MQ=58.87;MQ0=0;QD=39.31;SB=-7079.10;TI=NM_000348;GI=SRD5A2;FC=Frameshift;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:13,412:429:99:16862,1256,0:0.969:99 chr2 31806031 rs632148 C G 6346.84 PASS AC=2;AF=1.00;AN=2;DP=245;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.5920;MQ=50.92;MQ0=0;QD=25.91;SB=-4330.31;TI=NM_000348;GI=SRD5A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,243:245:99:6347,454,0:1.000:99 chr2 44114282 . CA C 144.26 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.486;DP=60;FS=1.248;HRun=21;HaplotypeScore=257.7277;MQ=43.67;MQ0=0;MQRankSum=0.238;QD=2.40;ReadPosRankSum=-1.478;SB=-78.68;TI=NM_133259;GI=LRPPRC;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,14:60:99:183,0,289:0.298:99 chr2 44116923 . C T 9045.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.408;DP=813;Dels=0.00;FS=1.744;HRun=0;HaplotypeScore=24.5786;MQ=50.38;MQ0=0;MQRankSum=-0.547;QD=11.13;ReadPosRankSum=-1.731;SB=-5800.75;TI=NM_133259;GI=LRPPRC;FC=Missense_A1360T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:415,398:813:99:9045,0,9666:0.490:99 chr2 44201376 rs4953042 T C 4910.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.182;DP=422;Dels=0.00;FS=1.150;HRun=0;HaplotypeScore=22.2717;MQ=53.12;MQ0=0;MQRankSum=3.578;QD=11.64;ReadPosRankSum=0.050;SB=-2928.18;TI=NM_133259;GI=LRPPRC;FC=Synonymous_Q356Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:213,208:422:99:4910,0,4653:0.494:99 chr2 48915871 rs11125179 A G 3632.29 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.080;DP=130;Dels=0.00;FS=4.385;HRun=0;HaplotypeScore=8.2672;MQ=51.44;MQ0=0;MQRankSum=-1.439;QD=27.94;ReadPosRankSum=-0.133;SB=-1774.75;TI=NM_001198593,NM_000233;GI=STON1-GTF2A1L,LHCGR;FC=Silent,Synonymous_D355D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,129:130:99:3632,224,0:0.992:99 chr2 48921375 rs2293275 T C 14290.87 PASS AC=2;AF=1.00;AN=2;DP=534;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=36.3541;MQ=52.57;MQ0=0;QD=26.76;SB=-8779.64;TI=NM_001198593,NM_000233;GI=STON1-GTF2A1L,LHCGR;FC=Silent,Missense_N312S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,532:534:99:14291,1020,0:1.000:99 chr2 61276263 rs1177230 G A 15063.85 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.675;DP=544;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=39.1141;MQ=48.86;MQ0=0;MQRankSum=-0.367;QD=27.69;ReadPosRankSum=-0.820;SB=-9691.76;TI=NM_002618;GI=PEX13;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,542:544:99:15064,1105,0:0.998:99 chr2 61276332 . AT A 1483.69 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.721;DP=456;FS=0.000;HRun=15;HaplotypeScore=1808.6727;MQ=49.91;MQ0=0;MQRankSum=2.497;QD=3.25;ReadPosRankSum=-1.444;SB=-696.46;TI=NM_002618;GI=PEX13;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:265,103:456:99:1523,0,4875:0.280:99 chr2 61276857 rs56739127 C T 3650.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.845;DP=280;Dels=0.00;FS=8.119;HRun=0;HaplotypeScore=19.4701;MQ=53.39;MQ0=0;MQRankSum=1.749;QD=13.04;ReadPosRankSum=2.158;SB=-1764.12;TI=NM_002618;GI=PEX13;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:134,146:280:99:3651,0,3325:0.521:99 chr2 61278052 rs2564097 A G 5031.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.807;DP=422;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=23.6746;MQ=51.80;MQ0=0;MQRankSum=1.931;QD=11.92;ReadPosRankSum=1.043;SB=-2586.93;TI=NM_002618;GI=PEX13;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:209,213:422:99:5032,0,4933:0.505:99 chr2 73613031 . T TGGA 544.60 LowGQ;LowGQX;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.273;DP=31;FS=4.771;HRun=0;HaplotypeScore=109.1892;MQ=55.97;MQ0=0;MQRankSum=-0.810;QD=17.57;ReadPosRankSum=-0.116;SB=-153.32;TI=NM_015120;GI=ALMS1;FC=1AA_Insertion;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,10:31:4.36:583,0,4:0.333:4 chr2 73675227 . T TCTC 5923.70 PASS AC=2;AF=1.00;AN=2;DP=106;FS=0.000;HRun=0;HaplotypeScore=109.5803;MQ=53.32;MQ0=0;QD=55.88;SB=-2637.41;TI=NM_015120;GI=ALMS1;FC=1AA_Insertion;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:17,88:106:99:5924,307,0:0.838:99 chr2 73675669 rs2037814 T G 3892.32 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.707;DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.9912;MQ=55.10;MQ0=0;MQRankSum=1.707;QD=28.41;ReadPosRankSum=-0.518;SB=-2327.99;TI=NM_015120;GI=ALMS1;FC=Missense_V671G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,136:137:99:3892,286,0:0.993:99 chr2 73675844 rs7598901 C T 11614.00 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.817;DP=476;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=35.9643;MQ=47.50;MQ0=0;MQRankSum=-0.465;QD=24.40;ReadPosRankSum=-0.722;SB=-8363.16;TI=NM_015120;GI=ALMS1;FC=Synonymous_F729F;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:5,468:476:99:11614,714,0:0.989:99 chr2 73828538 rs1052161 G A 2927.19 PASS AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6823;MQ=52.46;MQ0=0;QD=25.02;SB=-1960.82;TI=NM_015120;GI=ALMS1;FC=Missense_R4029K;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,117:117:99:2960,211,0:1.000:99 chr2 74185876 rs4777 A T 19290.18 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.360;DP=733;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=43.1422;MQ=50.32;MQ0=0;MQRankSum=-0.689;QD=26.32;ReadPosRankSum=-0.695;SB=-13333.44;TI=NM_080916,NM_080918;GI=DGUOK,DGUOK;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,728:733:99:19290,1340,0:0.996:99 chr2 74690039 rs2268416 G A 5740.58 PASS AC=2;AF=1.00;AN=2;DP=209;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.8432;MQ=51.36;MQ0=0;QD=27.47;SB=-3593.05;TI=NM_006302,NM_001146158;GI=MOGS,MOGS;FC=Missense_P293S,Missense_P187S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,209:209:99:5741,415,0:1.000:99 chr2 74690378 rs1063588 C T 12199.06 PASS AC=2;AF=1.00;AN=2;DP=495;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=19.9832;MQ=48.89;MQ0=0;QD=24.64;SB=-8949.41;TI=NM_006302,NM_001146158;GI=MOGS,MOGS;FC=Missense_D239N,Missense_D133N;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,495:495:99:12199,849,0:1.000:99 chr2 84650707 rs2832;rs11555949 A G 21312.62 PASS AC=2;AF=1.00;AN=2;DP=855;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=31.9785;MQ=49.68;MQ0=0;QD=24.93;SB=-15943.45;TI=NM_003849;GI=SUCLG1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,854:855:99:21313,1499,0:1.000:99 chr2 85885803 . A G 913.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.834;DP=88;Dels=0.00;FS=0.818;HRun=0;HaplotypeScore=11.8880;MQ=54.60;MQ0=0;MQRankSum=1.999;QD=10.38;ReadPosRankSum=0.817;SB=-571.65;TI=NM_000542,NM_198843;GI=SFTPB,SFTPB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,40:88:99:944,0,1203:0.455:99 chr2 85895338 rs2077079 T G 4753.78 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.272;DP=405;Dels=0.00;FS=0.757;HRun=2;HaplotypeScore=27.2116;MQ=50.43;MQ0=0;MQRankSum=0.423;QD=11.74;ReadPosRankSum=-0.456;SB=-2940.85;TI=NM_000542,NM_198843;GI=SFTPB,SFTPB;FC=Missense_H2P,Missense_H2P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:200,205:405:99:4754,0,4307:0.506:99 chr2 86088311 rs3731824 T C 8794.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.866;DP=764;Dels=0.00;FS=0.260;HRun=0;HaplotypeScore=25.5354;MQ=51.98;MQ0=0;MQRankSum=1.807;QD=11.51;ReadPosRankSum=-0.845;SB=-6188.70;TI=NM_003896,NM_001042437;GI=ST3GAL5,ST3GAL5;FC=Missense_H104R,Missense_H81R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:379,385:764:99:8794,0,8335:0.504:99 chr2 88874891 rs1805165 C A 2829.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.712;DP=301;Dels=0.00;FS=2.545;HRun=0;HaplotypeScore=15.6968;MQ=47.78;MQ0=0;MQRankSum=0.490;QD=9.40;ReadPosRankSum=-0.076;SB=-2132.59;TI=NM_004836;GI=EIF2AK3;FC=Missense_A704S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:160,139:301:99:2859,0,3545:0.465:99 chr2 88879131 rs1805164 T C 5782.85 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.525;DP=553;Dels=0.00;FS=1.007;HRun=0;HaplotypeScore=42.1836;MQ=52.72;MQ0=0;MQRankSum=4.571;QD=10.46;ReadPosRankSum=-1.448;SB=-3575.22;TI=NM_004836;GI=EIF2AK3;FC=Synonymous_Q597Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:292,261:553:99:5783,0,6636:0.472:99 chr2 88895123 rs13045 T C 6029.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.795;DP=607;Dels=0.00;FS=2.083;HRun=0;HaplotypeScore=22.9769;MQ=50.93;MQ0=0;MQRankSum=2.186;QD=9.93;ReadPosRankSum=0.356;SB=-3813.14;TI=NM_004836;GI=EIF2AK3;FC=Missense_Q166R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:338,269:607:99:6029,0,7728:0.443:99 chr2 88913273 rs867529 G C 10641.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=6.015;DP=864;Dels=0.00;FS=2.366;HRun=0;HaplotypeScore=43.9881;MQ=53.78;MQ0=0;MQRankSum=1.147;QD=12.32;ReadPosRankSum=0.172;SB=-6675.41;TI=NM_004836;GI=EIF2AK3;FC=Missense_S136C;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:417,444:864:99:10641,0,9877:0.516:99 chr2 88926729 rs72416210 CCAG C 3025.29 PASS AC=2;AF=1.00;AN=2;DP=63;FS=0.000;HRun=0;HaplotypeScore=55.5666;MQ=47.06;MQ0=0;QD=48.02;SB=-1140.46;TI=NM_004836;GI=EIF2AK3;FC=1AA_Deletion;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,59:63:99:3067,184,0:0.952:99 chr2 113890304 rs315952 T C 2354.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.238;DP=244;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.9544;MQ=46.48;MQ0=0;MQRankSum=-0.973;QD=9.65;ReadPosRankSum=-0.354;SB=-1790.46;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 0/1:128,115:244:99:2384,0,2744:0.473:99 chr2 113890586 rs315951 C G 941.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.092;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5899;MQ=48.84;MQ0=0;MQRankSum=0.188;QD=12.07;ReadPosRankSum=-1.305;SB=-773.54;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 0/1:32,46:78:99:971,0,709:0.590:99 chr2 113891412 rs9005 G A 2745.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.610;DP=224;Dels=0.00;FS=1.065;HRun=0;HaplotypeScore=18.4447;MQ=51.38;MQ0=0;MQRankSum=0.249;QD=12.26;ReadPosRankSum=0.779;SB=-1951.86;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 0/1:102,122:224:99:2776,0,2189:0.545:99 chr2 135893372 rs10445686 A G 7054.08 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=6.878;DP=689;Dels=0.00;FS=0.886;HRun=0;HaplotypeScore=58.4443;MQ=50.08;MQ0=0;MQRankSum=3.572;QD=10.24;ReadPosRankSum=-1.238;SB=-4204.74;TI=NM_001172435,NM_012233;GI=RAB3GAP1,RAB3GAP1;FC=Missense_N598S,Missense_N598S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:376,312:689:99:7054,0,8493:0.453:99 chr2 135911422 rs17261772 T C 12792.74 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.525;DP=504;Dels=0.00;FS=3.487;HRun=0;HaplotypeScore=28.8514;MQ=48.56;MQ0=0;MQRankSum=0.117;QD=25.38;ReadPosRankSum=1.380;SB=-8565.11;TI=NM_001172435,NM_012233;GI=RAB3GAP1,RAB3GAP1;FC=Synonymous_F755F,Synonymous_F755F;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,501:504:99:12793,886,0:0.998:99 chr2 135927544 . TA T 510.56 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.638;DP=170;FS=4.383;HRun=15;HaplotypeScore=412.9582;MQ=50.79;MQ0=0;MQRankSum=0.209;QD=3.00;ReadPosRankSum=-0.131;SB=-201.70;TI=NM_001172435,NM_012233;GI=RAB3GAP1,RAB3GAP1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:109,31:170:99:550,0,1599:0.221:99 chr2 152352843 rs7575451 C G 6647.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.040;DP=533;Dels=0.00;FS=0.318;HRun=1;HaplotypeScore=50.3519;MQ=52.56;MQ0=4;MQRankSum=1.110;QD=12.47;ReadPosRankSum=-0.053;SB=-3788.24;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 0/1:262,266:533:99:6647,0,6407:0.504:99 chr2 152387553 rs4664475 T C 5034.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.334;DP=416;Dels=0.00;FS=0.362;HRun=0;HaplotypeScore=24.0436;MQ=47.36;MQ0=0;MQRankSum=-0.072;QD=12.10;ReadPosRankSum=1.068;SB=-3490.47;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Synonymous_T5482T,Synonymous_T7195T,Synonymous_T7195T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:181,232:416:99:5034,0,3865:0.562:99 chr2 152422076 rs2288210 C G 17477.56 PASS AC=2;AF=1.00;AN=2;DP=688;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=29.8264;MQ=51.52;MQ0=0;QD=25.40;SB=-13018.68;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 1/1:0,688:688:99:17478,1228,0:1.000:99 chr2 152422087 rs2288211 A G 8460.71 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.793;DP=664;Dels=0.00;FS=2.833;HRun=2;HaplotypeScore=34.8442;MQ=51.92;MQ0=0;MQRankSum=-0.185;QD=12.74;ReadPosRankSum=-2.013;SB=-6295.91;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Synonymous_Y4385Y,Synonymous_Y6098Y,Synonymous_Y6098Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:275,388:663:99:8461,0,5666:0.585:99 chr2 152436012 rs62174690 T G 750.80 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.287;DP=501;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5630;MQ=10.75;MQ0=421;MQRankSum=-1.124;QD=1.50;ReadPosRankSum=-1.377;SB=-336.86;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 0/1:389,112:501:99:781,0,639:0.224:99 chr2 152436106 rs2288215 C T 53.42 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.899;DP=476;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1339;MQ=3.48;MQ0=456;MQRankSum=-0.152;QD=0.11;ReadPosRankSum=0.228;SB=-0.01;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Silent,Missense_A5484T,Missense_A5484T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:388,88:476:83.42:83,0,91:0.185:53 chr2 152476130 rs6717213 C T 3956.77 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.508;DP=392;Dels=0.00;FS=1.194;HRun=2;HaplotypeScore=17.3874;MQ=47.88;MQ0=0;MQRankSum=-1.258;QD=10.09;ReadPosRankSum=2.775;SB=-2953.80;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Synonymous_K3314K,Synonymous_K3569K,Synonymous_K3569K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:202,189:392:99:3957,0,4145:0.483:99 chr2 152490219 rs6709886 A G 4909.31 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.636;DP=181;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=12.0430;MQ=50.15;MQ0=0;MQRankSum=1.598;QD=27.12;ReadPosRankSum=-0.622;SB=-2590.18;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 1/1:1,180:181:99:4909,355,0:0.994:99 chr2 152490458 rs6710212 A G 3438.79 PASS AC=2;AF=1.00;AN=2;DP=129;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.3590;MQ=52.75;MQ0=0;QD=26.66;SB=-2087.90;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 1/1:0,129:129:99:3439,244,0:1.000:99 chr2 152496526 rs6713162 A G 15885.27 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.453;DP=597;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=40.0612;MQ=51.60;MQ0=0;MQRankSum=0.498;QD=26.61;ReadPosRankSum=-1.133;SB=-9878.08;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Missense_S2912P,Missense_S2912P,Missense_S2912P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:5,590:596:99:15885,1043,0:0.992:99 chr2 152515683 rs75807392 G A 7962.97 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.692;DP=759;Dels=0.00;FS=0.831;HRun=0;HaplotypeScore=39.6916;MQ=50.55;MQ0=0;MQRankSum=3.875;QD=10.49;ReadPosRankSum=0.404;SB=-5619.29;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Missense_H1991Y,Missense_H1991Y,Missense_H1991Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:405,353:759:99:7963,0,9195:0.466:99 chr2 152521096 rs10170273 C T 13682.22 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.017;DP=527;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=29.8810;MQ=52.37;MQ0=0;MQRankSum=2.473;QD=25.96;ReadPosRankSum=2.618;SB=-9525.67;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Synonymous_E1790E,Synonymous_E1790E,Synonymous_E1790E;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,524:527:99:13682,933,0:0.994:99 chr2 152527608 rs34577613 C T 4966.52 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.086;DP=502;Dels=0.00;FS=3.804;HRun=0;HaplotypeScore=18.0816;MQ=49.53;MQ0=0;MQRankSum=1.613;QD=9.89;ReadPosRankSum=0.580;SB=-3833.92;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Missense_V1479I,Missense_V1479I,Missense_V1479I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:258,244:502:99:4967,0,5877:0.486:99 chr2 152531077 rs6711382 A G 4760.20 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.352;DP=449;Dels=0.00;FS=1.971;HRun=0;HaplotypeScore=23.0160;MQ=48.77;MQ0=0;MQRankSum=3.307;QD=10.60;ReadPosRankSum=2.429;SB=-3172.28;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Missense_Y1301H,Missense_Y1301H,Missense_Y1301H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:237,211:449:99:4760,0,5443:0.471:99 chr2 152544878 . C T 5126.10 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.374;DP=444;Dels=0.00;FS=0.346;HRun=2;HaplotypeScore=23.5423;MQ=47.85;MQ0=1;MQRankSum=-1.212;QD=11.55;ReadPosRankSum=2.432;SB=-3903.43;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Synonymous_K781K,Synonymous_K781K,Synonymous_K781K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:204,240:444:99:5126,0,4350:0.541:99 chr2 152566961 rs36105240 T C 10494.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.679;DP=918;Dels=0.00;FS=0.777;HRun=1;HaplotypeScore=32.9143;MQ=52.44;MQ0=0;MQRankSum=4.674;QD=11.43;ReadPosRankSum=0.670;SB=-5115.13;TI=NM_004543,NM_001164508,NM_001164507;GI=NEB,NEB,NEB;FC=Missense_D305G,Missense_D305G,Missense_D305G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:480,438:918:99:10494,0,11442:0.477:99 chr2 169779712 rs496550 T C 1708.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.505;DP=137;Dels=0.00;FS=4.156;HRun=0;HaplotypeScore=15.4521;MQ=51.41;MQ0=0;MQRankSum=-0.177;QD=12.47;ReadPosRankSum=-0.915;SB=-1138.11;TI=NM_003742;GI=ABCB11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:62,74:137:99:1739,0,1536:0.544:99 chr2 169779764 rs495714 C T 4354.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.177;DP=384;Dels=0.00;FS=5.859;HRun=0;HaplotypeScore=16.3661;MQ=44.37;MQ0=0;MQRankSum=0.629;QD=11.34;ReadPosRankSum=-1.311;SB=-3033.63;TI=NM_003742;GI=ABCB11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:184,200:384:99:4355,0,3981:0.521:99 chr2 169779896 rs473351 T C 3674.05 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.936;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.0399;MQ=55.22;MQ0=0;MQRankSum=1.777;QD=31.40;ReadPosRankSum=-1.524;SB=-1686.01;TI=NM_003742;GI=ABCB11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,115:117:99:3674,217,0:0.983:99 chr2 169789016 rs497692 T C 4779.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.779;DP=454;Dels=0.00;FS=1.092;HRun=0;HaplotypeScore=12.8333;MQ=47.98;MQ0=0;MQRankSum=-2.707;QD=10.53;ReadPosRankSum=0.229;SB=-3426.09;TI=NM_003742;GI=ABCB11;FC=Synonymous_A1028A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:234,220:454:99:4779,0,5066:0.485:99 chr2 169830328 rs2287622 A G 12686.24 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.725;DP=510;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=14.8978;MQ=51.29;MQ0=0;MQRankSum=-0.530;QD=24.87;ReadPosRankSum=-0.007;SB=-9615.65;TI=NM_003742;GI=ABCB11;FC=Missense_V444A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,509:510:99:12686,891,0:0.998:99 chr2 169847412 rs2287616 A G 5490.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.469;DP=522;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=34.6247;MQ=50.80;MQ0=0;MQRankSum=1.264;QD=10.52;ReadPosRankSum=2.004;SB=-3538.35;TI=NM_003742;GI=ABCB11;FC=Synonymous_Y269Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:287,233:522:99:5491,0,6675:0.448:99 chr2 169870855 rs3815675 A G 5289.83 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.129;DP=466;Dels=0.00;FS=1.500;HRun=0;HaplotypeScore=23.9223;MQ=50.81;MQ0=0;MQRankSum=3.123;QD=11.35;ReadPosRankSum=1.121;SB=-3687.85;TI=NM_003742;GI=ABCB11;FC=Synonymous_D36D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:228,237:466:99:5290,0,5210:0.510:99 chr2 169984043 . T A 40.42 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.781;DP=32;Dels=0.00;FS=24.266;HRun=22;HaplotypeScore=38.2070;MQ=43.07;MQ0=0;MQRankSum=0.612;QD=1.26;ReadPosRankSum=0.000;SB=-0.01;TI=NM_004525;GI=LRP2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:25,5:32:70.41:70,0,501:0.167:40 chr2 169984043 rs3083240 T TA 73.13 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.267;DP=32;FS=0.000;HRun=22;HaplotypeScore=264.4146;MQ=43.07;MQ0=0;MQRankSum=-0.752;QD=2.29;ReadPosRankSum=-2.062;SB=-43.32;TI=NM_004525;GI=LRP2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:17,5:32:99:112,0,102:0.227:73 chr2 170053505 rs2228171 C T 12328.51 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.688;DP=476;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=26.1863;MQ=48.24;MQ0=0;MQRankSum=1.703;QD=25.90;ReadPosRankSum=1.258;SB=-8947.86;TI=NM_004525;GI=LRP2;FC=Missense_A2872T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,474:476:99:12329,882,0:0.998:99 chr2 170070172 rs4667596 C T 5757.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.795;DP=467;Dels=0.00;FS=0.339;HRun=1;HaplotypeScore=22.0713;MQ=48.54;MQ0=0;MQRankSum=0.737;QD=12.33;ReadPosRankSum=1.542;SB=-3732.91;TI=NM_004525;GI=LRP2;FC=Missense_R2012K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:209,258:467:99:5757,0,4525:0.552:99 chr2 170088351 rs2302694 G A 5449.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.929;DP=535;Dels=0.00;FS=3.659;HRun=0;HaplotypeScore=21.0598;MQ=51.55;MQ0=0;MQRankSum=-0.342;QD=10.19;ReadPosRankSum=-0.414;SB=-3725.70;TI=NM_004525;GI=LRP2;FC=Unknown_1700;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:281,254:535:99:5450,0,6012:0.475:99 chr2 170092395 rs2229267 A G 5415.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.841;DP=497;Dels=0.00;FS=1.049;HRun=0;HaplotypeScore=24.2695;MQ=46.21;MQ0=0;MQRankSum=-0.762;QD=10.90;ReadPosRankSum=2.260;SB=-3905.65;TI=NM_004525;GI=LRP2;FC=Synonymous_C1625C;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:249,248:497:99:5415,0,5297:0.499:99 chr2 170099473 rs831042 T C 4899.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.296;DP=460;Dels=0.00;FS=0.341;HRun=2;HaplotypeScore=13.2517;MQ=48.99;MQ0=0;MQRankSum=1.159;QD=10.65;ReadPosRankSum=-1.405;SB=-3024.69;TI=NM_004525;GI=LRP2;FC=Synonymous_A1220A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:240,219:460:99:4900,0,5443:0.477:99 chr2 170103336 rs831043 T C 4929.95 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.146;DP=535;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=32.6654;MQ=45.95;MQ0=0;MQRankSum=-2.451;QD=9.21;ReadPosRankSum=0.631;SB=-3776.42;TI=NM_004525;GI=LRP2;FC=Synonymous_T1023T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:290,244:535:99:4930,0,6053:0.457:99 chr2 170103351 rs2075249 G T 4318.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.058;DP=451;Dels=0.00;FS=1.114;HRun=2;HaplotypeScore=36.4595;MQ=47.12;MQ0=0;MQRankSum=0.189;QD=9.58;ReadPosRankSum=1.338;SB=-3336.13;TI=NM_004525;GI=LRP2;FC=Synonymous_T1018T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:237,213:451:99:4319,0,4859:0.473:99 chr2 170115588 rs2241190 T C 7819.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.718;DP=734;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=35.5546;MQ=48.76;MQ0=0;MQRankSum=0.795;QD=10.65;ReadPosRankSum=-0.895;SB=-4936.50;TI=NM_004525;GI=LRP2;FC=Synonymous_T820T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:395,338:734:99:7820,0,8835:0.461:99 chr2 170129528 rs830994 G A 11980.67 PASS AC=2;AF=1.00;AN=2;DP=477;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=20.6897;MQ=49.53;MQ0=0;QD=25.12;SB=-8293.72;TI=NM_004525;GI=LRP2;FC=Synonymous_V675V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,476:477:99:11981,846,0:1.000:99 chr2 170218847 rs1559014 C G 7551.15 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.670;DP=280;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=17.5145;MQ=50.98;MQ0=0;MQRankSum=1.645;QD=26.97;ReadPosRankSum=-1.002;SB=-3955.17;TI=NM_004525;GI=LRP2;FC=Synonymous_A21A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,279:280:99:7551,554,0:0.996:99 chr2 173352157 rs2293648 A T 8558.10 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.982;DP=672;Dels=0.00;FS=0.280;HRun=1;HaplotypeScore=28.0157;MQ=49.46;MQ0=0;MQRankSum=1.583;QD=12.74;ReadPosRankSum=3.762;SB=-5863.83;TI=NM_001079818,NM_000210;GI=ITGA6,ITGA6;FC=Synonymous_A712A,Synonymous_A712A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:303,367:672:99:8558,0,6877:0.548:99 chr2 173369231 rs17664 A G 5053.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=6.536;DP=515;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=28.9220;MQ=51.76;MQ0=0;MQRankSum=3.747;QD=9.81;ReadPosRankSum=-1.103;SB=-3377.53;TI=NM_001079818,NM_000210;GI=ITGA6,ITGA6;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:275,239:515:99:5054,0,6143:0.465:99 chr2 173370689 . T TA 2678.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.797;DP=322;FS=0.962;HRun=8;HaplotypeScore=261.1966;MQ=51.62;MQ0=0;MQRankSum=6.729;QD=8.32;ReadPosRankSum=-0.105;SB=-1231.21;TI=NM_001079818,NM_000210;GI=ITGA6,ITGA6;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:207,109:322:99:2717,0,3760:0.345:99 chr2 178404735 . T TAAAG 20047.90 PASS AC=2;AF=1.00;AN=2;DP=289;FS=0.000;HRun=0;HaplotypeScore=372.1157;MQ=52.72;MQ0=2;QD=69.37;SB=-8326.92;TI=NM_003659;GI=AGPS;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:4,279:287:99:20048,861,0:0.986:99 chr2 178404789 rs74500978 A G 1242.48 LowGQ AC=2;AF=1.00;AN=2;BaseQRankSum=1.695;DP=47;Dels=0.04;FS=5.322;HRun=0;HaplotypeScore=5.7584;MQ=50.41;MQ0=0;MQRankSum=2.054;QD=26.44;ReadPosRankSum=-0.299;SB=-535.57;TI=NM_003659;GI=AGPS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:4,41:45:17.13:1275,17,0:0.911:17 chr2 178405471 rs76966937 A G 3516.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.723;DP=279;Dels=0.00;FS=2.078;HRun=0;HaplotypeScore=10.9276;MQ=54.49;MQ0=0;MQRankSum=-0.196;QD=12.60;ReadPosRankSum=0.831;SB=-1819.84;TI=NM_003659;GI=AGPS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:132,146:279:99:3516,0,3300:0.525:99 chr2 178406481 rs8941 C T 6515.54 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.702;DP=519;Dels=0.00;FS=5.525;HRun=2;HaplotypeScore=22.6373;MQ=51.06;MQ0=0;MQRankSum=3.048;QD=12.55;ReadPosRankSum=0.431;SB=-4210.70;TI=NM_003659;GI=AGPS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:236,283:519:99:6516,0,5573:0.545:99 chr2 178406769 rs5836610 A AT 7598.79 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.261;DP=288;FS=0.000;HRun=8;HaplotypeScore=302.1196;MQ=58.50;MQ0=0;MQRankSum=-0.237;QD=26.38;ReadPosRankSum=0.082;SB=-3204.46;TI=NM_003659;GI=AGPS;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:38,242:288:99:7599,718,0:0.864:99 chr2 178407176 rs10803912 C A 8089.66 PASS AC=2;AF=1.00;AN=2;DP=280;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3645;MQ=52.32;MQ0=0;QD=28.89;SB=-3613.13;TI=NM_003659;GI=AGPS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,279:280:99:8090,590,0:1.000:99 chr2 178407438 rs3215354 CAT C 7854.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.586;DP=286;FS=1.993;HRun=0;HaplotypeScore=195.8213;MQ=50.81;MQ0=0;MQRankSum=-1.155;QD=27.46;ReadPosRankSum=-1.109;SB=-3842.82;TI=NM_003659;GI=AGPS;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:123,157:286:99:7855,0,5893:0.561:99 chr2 178407897 rs2293475 T C 6234.55 PASS AC=2;AF=1.00;AN=2;DP=235;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.7793;MQ=51.77;MQ0=0;QD=26.53;SB=-4309.81;TI=NM_003659;GI=AGPS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,235:235:99:6235,445,0:1.000:99 chr2 191161622 rs1058180 T C 18944.50 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.646;DP=686;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=45.2329;MQ=52.03;MQ0=0;MQRankSum=1.601;QD=27.62;ReadPosRankSum=0.828;SB=-12794.32;TI=NM_198047,NM_014362;GI=HIBCH,HIBCH;FC=Missense_T46A,Missense_T46A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,685:686:99:18944,1369,0:0.999:99 chr2 191184475 rs291466 A G 7503.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=5.137;DP=689;Dels=0.00;FS=1.914;HRun=0;HaplotypeScore=24.2906;MQ=46.72;MQ0=0;MQRankSum=1.467;QD=10.89;ReadPosRankSum=1.397;SB=-5636.36;TI=NM_198047,NM_014362;GI=HIBCH,HIBCH;FC=Missense_M1T,Missense_M1T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:336,350:689:99:7504,0,7220:0.510:99 chr2 191184524 rs3749022 C T 6978.08 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.308;DP=639;Dels=0.00;FS=1.990;HRun=0;HaplotypeScore=28.8518;MQ=48.59;MQ0=0;MQRankSum=1.306;QD=10.92;ReadPosRankSum=1.286;SB=-4955.35;TI=NM_198047,NM_014362;GI=HIBCH,HIBCH;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:316,323:639:99:6978,0,6996:0.505:99 chr2 191840352 rs3215258 CT C 1343.76 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.226;DP=382;FS=2.284;HRun=15;HaplotypeScore=1382.1982;MQ=47.52;MQ0=0;MQRankSum=0.595;QD=3.52;ReadPosRankSum=-0.103;SB=-540.89;TI=NM_007315,NM_139266;GI=STAT1,STAT1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:254,88:381:99:1383,0,4032:0.257:99 chr2 202565570 rs11300 C T 1648.66 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.213;DP=139;Dels=0.00;FS=0.650;HRun=0;HaplotypeScore=5.4438;MQ=55.78;MQ0=0;MQRankSum=-0.453;QD=11.86;ReadPosRankSum=0.023;SB=-850.03;TI=NM_020919;GI=ALS2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:67,72:139:99:1679,0,1626:0.518:99 chr2 202565681 rs3219174 G A 3589.77 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.033;DP=321;Dels=0.00;FS=0.412;HRun=0;HaplotypeScore=22.2680;MQ=47.99;MQ0=0;MQRankSum=-1.061;QD=11.18;ReadPosRankSum=-1.795;SB=-2525.60;TI=NM_020919;GI=ALS2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:158,160:321:99:3590,0,3553:0.503:99 chr2 202575821 rs3219168 G A 24615.50 PASS AC=2;AF=1.00;AN=2;DP=931;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=34.1438;MQ=50.39;MQ0=0;QD=26.44;SB=-16717.58;TI=NM_020919;GI=ALS2;FC=Synonymous_L1339L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,929:931:99:24615,1749,0:1.000:99 chr2 202593280 rs3219161 G A 5755.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.707;DP=443;Dels=0.00;FS=3.591;HRun=0;HaplotypeScore=19.1621;MQ=49.51;MQ0=0;MQRankSum=-1.771;QD=12.99;ReadPosRankSum=0.550;SB=-4133.14;TI=NM_020919;GI=ALS2;FC=Synonymous_S932S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:186,256:443:99:5755,0,4300:0.579:99 chr2 202598113 rs2276615 C T 11785.49 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.306;DP=957;Dels=0.00;FS=2.571;HRun=2;HaplotypeScore=73.4872;MQ=54.84;MQ0=0;MQRankSum=2.760;QD=12.32;ReadPosRankSum=0.346;SB=-7448.81;TI=NM_020919;GI=ALS2;FC=Synonymous_V822V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:466,489:957:99:11785,0,11026:0.512:99 chr2 202625615 rs3219156 C T 7868.02 PASS AC=2;AF=1.00;AN=2;DP=301;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.0256;MQ=47.30;MQ0=0;QD=26.14;SB=-5489.46;TI=NM_020919,NM_001135745;GI=ALS2,ALS2;FC=Missense_V368M,Missense_V368M;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,301:301:99:7868,557,0:1.000:99 chr2 207630338 rs3762567 C T 2145.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.980;DP=195;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=14.7070;MQ=53.12;MQ0=0;MQRankSum=2.281;QD=11.00;ReadPosRankSum=-0.558;SB=-1276.34;TI=NM_001136194,NM_001136193,NM_014929;GI=FASTKD2,FASTKD2,FASTKD2;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:96,94:195:99:2175,0,2278:0.495:99 chr2 207631461 rs3762568 G A 3092.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.089;DP=245;Dels=0.00;FS=4.328;HRun=1;HaplotypeScore=10.9027;MQ=51.16;MQ0=0;MQRankSum=-0.257;QD=12.62;ReadPosRankSum=-0.825;SB=-2072.32;TI=NM_001136194,NM_001136193,NM_014929;GI=FASTKD2,FASTKD2,FASTKD2;FC=Missense_S15N,Missense_S15N,Missense_S15N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:120,125:245:99:3123,0,2991:0.510:99 chr2 207657153 rs1048783 T C 4071.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.308;DP=341;Dels=0.00;FS=0.404;HRun=1;HaplotypeScore=23.3376;MQ=49.70;MQ0=0;MQRankSum=-1.530;QD=11.94;ReadPosRankSum=2.095;SB=-2299.85;TI=NM_001136194,NM_001136193,NM_014929;GI=FASTKD2,FASTKD2,FASTKD2;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:167,174:341:99:4071,0,3865:0.510:99 chr2 207657198 rs61672260 T A 2933.99 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.941;DP=264;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=35.6951;MQ=54.09;MQ0=0;MQRankSum=3.442;QD=11.11;ReadPosRankSum=1.750;SB=-1665.22;TI=NM_001136194,NM_001136193,NM_014929;GI=FASTKD2,FASTKD2,FASTKD2;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:139,125:264:99:2964,0,3331:0.473:99 chr2 207657741 . G A 275.25 SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.305;DP=25;Dels=0.00;FS=12.128;HRun=0;HaplotypeScore=1.8939;MQ=54.35;MQ0=0;MQRankSum=0.915;QD=11.01;ReadPosRankSum=1.470;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 0/1:15,10:25:99:305,0,398:0.400:99 chr2 207657886 . C A 10.58 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.137;DP=23;Dels=0.00;FS=20.569;HRun=1;HaplotypeScore=6.2586;MQ=46.22;MQ0=0;MQRankSum=-1.689;QD=0.46;ReadPosRankSum=-1.689;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 0/1:20,3:23:40.17:40,0,536:0.130:10 chr2 207657972 . A C 191.60 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=3.328;DP=64;Dels=0.00;FS=55.089;HRun=0;HaplotypeScore=59.8111;MQ=34.43;MQ0=0;MQRankSum=-0.869;QD=2.99;ReadPosRankSum=-2.210;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 0/1:52,12:64:99:222,0,1359:0.188:99 chr2 207658000 . A AC 2061.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.850;DP=123;FS=2.322;HRun=1;HaplotypeScore=369.6328;MQ=48.60;MQ0=0;MQRankSum=5.106;QD=16.76;ReadPosRankSum=-0.423;SB=-1025.69;TI=NM_001136194,NM_001136193,NM_014929;GI=FASTKD2,FASTKD2,FASTKD2;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:65,58:123:99:2101,0,2272:0.472:99 chr2 207658595 rs2193885 T A 2780.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.962;DP=222;Dels=0.00;FS=3.030;HRun=0;HaplotypeScore=3.5764;MQ=57.07;MQ0=0;MQRankSum=0.036;QD=12.52;ReadPosRankSum=-1.680;SB=-1504.42;TI=NM_001136194,NM_001136193,NM_014929;GI=FASTKD2,FASTKD2,FASTKD2;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:111,111:222:99:2810,0,2888:0.500:99 chr2 207658847 rs10655467 T TAC 1633.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.530;DP=193;FS=2.286;HRun=0;HaplotypeScore=206.8956;MQ=54.32;MQ0=1;MQRankSum=2.308;QD=8.46;ReadPosRankSum=-0.752;SB=-721.84;TI=NM_001136194,NM_001136193,NM_014929;GI=FASTKD2,FASTKD2,FASTKD2;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:118,46:192:99:1672,0,2792:0.280:99 chr2 207659014 rs6435351 T C 3110.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.433;DP=211;Dels=0.00;FS=2.409;HRun=0;HaplotypeScore=7.1253;MQ=55.49;MQ0=0;MQRankSum=1.067;QD=14.74;ReadPosRankSum=-1.078;SB=-1604.38;TI=NM_001136194,NM_001136193,NM_014929;GI=FASTKD2,FASTKD2,FASTKD2;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:93,116:211:99:3140,0,2376:0.555:99 chr2 207659531 rs1001805 A G 3351.11 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.018;DP=228;Dels=0.00;FS=0.493;HRun=0;HaplotypeScore=12.8237;MQ=54.43;MQ0=0;MQRankSum=2.482;QD=14.70;ReadPosRankSum=-2.008;SB=-1970.33;TI=NM_001136194,NM_001136193,NM_014929;GI=FASTKD2,FASTKD2,FASTKD2;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:96,132:228:99:3351,0,2346:0.579:99 chr2 207659760 rs5838044 G GT 3897.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.132;DP=182;FS=0.552;HRun=0;HaplotypeScore=124.3781;MQ=55.68;MQ0=0;MQRankSum=5.744;QD=21.41;ReadPosRankSum=0.719;SB=-1621.25;TI=NM_001136194,NM_001136193,NM_014929;GI=FASTKD2,FASTKD2,FASTKD2;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:83,98:182:99:3897,0,3196:0.541:99 chr2 211060050 rs2286963 T G 4836.95 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.333;DP=469;Dels=0.00;FS=5.188;HRun=0;HaplotypeScore=20.0772;MQ=48.30;MQ0=0;MQRankSum=-3.389;QD=10.31;ReadPosRankSum=0.745;SB=-3289.02;TI=NM_001608;GI=ACADL;FC=Missense_K333Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:244,224:469:99:4837,0,5458:0.479:99 chr2 211421452 rs3835047 A ATCT 14716.87 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.057;DP=552;FS=2.172;HRun=0;HaplotypeScore=382.8854;MQ=56.69;MQ0=0;MQRankSum=5.067;QD=26.66;ReadPosRankSum=0.992;SB=-7166.08;TI=NM_001122633,NM_001875;GI=CPS1,CPS1;FC=1AA_Insertion,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:277,266:552:99:14717,0,14613:0.490:99 chr2 211456637 rs1047883 A G 4845.80 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.148;DP=462;Dels=0.00;FS=5.879;HRun=0;HaplotypeScore=21.1354;MQ=51.78;MQ0=0;MQRankSum=0.722;QD=10.49;ReadPosRankSum=1.896;SB=-3305.93;TI=NM_001122633,NM_001875;GI=CPS1,CPS1;FC=Missense_T350A,Missense_T344A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:236,225:462:99:4846,0,5399:0.488:99 chr2 211456639 rs2229589 C T 4974.29 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.350;DP=469;Dels=0.00;FS=6.552;HRun=0;HaplotypeScore=22.9686;MQ=51.68;MQ0=0;MQRankSum=2.032;QD=10.61;ReadPosRankSum=1.228;SB=-3251.94;TI=NM_001122633,NM_001875;GI=CPS1,CPS1;FC=Synonymous_T350T,Synonymous_T344T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:238,231:469:99:4974,0,5300:0.493:99 chr2 211481257 rs2287599 C G 4145.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.439;DP=471;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=21.4662;MQ=48.45;MQ0=0;MQRankSum=1.038;QD=8.80;ReadPosRankSum=0.719;SB=-2460.59;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 0/1:273,195:471:99:4146,0,6064:0.417:99 chr2 211540507 rs1047891 C A 5367.46 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.357;DP=400;Dels=0.00;FS=2.127;HRun=1;HaplotypeScore=15.9928;MQ=52.94;MQ0=0;MQRankSum=2.520;QD=13.42;ReadPosRankSum=-2.114;SB=-3235.08;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 0/1:183,216:400:99:5367,0,4350:0.541:99 chr2 211543055 rs715 T C 2725.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.536;DP=264;Dels=0.00;FS=1.487;HRun=1;HaplotypeScore=12.6126;MQ=50.65;MQ0=0;MQRankSum=0.333;QD=10.32;ReadPosRankSum=-2.354;SB=-1874.70;TI=NM_001122633,NM_001875,NM_001122634;GI=CPS1,CPS1,CPS1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:141,123:264:99:2755,0,3439:0.466:99 chr2 211543401 rs12476133 C G 1516.32 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.279;DP=94;Dels=0.00;FS=5.737;HRun=0;HaplotypeScore=8.1186;MQ=53.25;MQ0=0;MQRankSum=-0.941;QD=16.13;ReadPosRankSum=-1.697;SB=-975.13;TI=NM_001122633,NM_001875,NM_001122634;GI=CPS1,CPS1,CPS1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,63:94:99:1546,0,901:0.670:99 chr2 215876166 rs7560008 A T 12068.55 PASS AC=2;AF=1.00;AN=2;DP=413;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.7255;MQ=52.27;MQ0=0;QD=29.22;SB=-5404.14;TI=NM_015657,NM_173076;GI=ABCA12,ABCA12;FC=Missense_S459T,Missense_S777T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,411:413:99:12069,876,0:1.000:99 chr2 215901774 rs17501837 C T 9347.89 PASS AC=2;AF=1.00;AN=2;DP=351;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.7236;MQ=50.96;MQ0=0;QD=26.63;SB=-6342.33;TI=NM_173076;GI=ABCA12;FC=Synonymous_V296V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,350:351:99:9348,665,0:1.000:99 chr2 219646547 rs11375701 A AC 15245.70 PASS AC=2;AF=1.00;AN=2;DP=387;FS=0.000;HRun=2;HaplotypeScore=235.8763;MQ=58.19;MQ0=0;QD=39.39;SB=-7118.96;TI=NM_000784;GI=CYP27A1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:5,376:387:99:15246,1135,0:0.987:99 chr2 219754966 . G A 4172.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.478;DP=382;Dels=0.00;FS=0.782;HRun=0;HaplotypeScore=29.7330;MQ=51.88;MQ0=0;MQRankSum=0.402;QD=10.92;ReadPosRankSum=-1.669;SB=-2917.44;TI=NM_025216;GI=WNT10A;FC=Missense_G213S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:199,182:382:99:4173,0,4324:0.478:99 chr2 219940484 rs359960 C T 4964.01 PASS AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6650;MQ=56.95;MQ0=0;QD=28.37;SB=-2757.00;TI=NM_024782;GI=NHEJ1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,175:175:99:4964,361,0:1.000:99 chr2 219941063 rs897477 G A 2049.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.393;DP=157;Dels=0.00;FS=0.604;HRun=0;HaplotypeScore=9.9407;MQ=53.37;MQ0=0;MQRankSum=3.929;QD=13.05;ReadPosRankSum=0.963;SB=-1280.55;TI=NM_024782;GI=NHEJ1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:69,87:157:99:2079,0,1486:0.558:99 chr2 220012395 . C G 7367.33 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.863;DP=862;Dels=0.00;FS=0.249;HRun=0;HaplotypeScore=40.5595;MQ=46.99;MQ0=0;MQRankSum=2.917;QD=8.55;ReadPosRankSum=2.712;SB=-5540.00;TI=NM_024782;GI=NHEJ1;FC=Synonymous_G171G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:497,362:862:99:7367,0,10833:0.421:99 chr2 227867719 rs1054413 G A 4922.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.247;DP=392;Dels=0.00;FS=2.151;HRun=1;HaplotypeScore=15.6747;MQ=52.22;MQ0=0;MQRankSum=2.998;QD=12.56;ReadPosRankSum=-0.143;SB=-2805.30;TI=NM_000092;GI=COL4A4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:195,197:392:99:4923,0,4608:0.503:99 chr2 227868854 rs56324594 C T 2040.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.787;DP=218;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.2453;MQ=53.93;MQ0=0;MQRankSum=-0.955;QD=9.36;ReadPosRankSum=-0.732;SB=-1407.83;TI=NM_000092;GI=COL4A4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:125,93:218:99:2070,0,3035:0.427:99 chr2 227871266 rs79881506 A AT 4677.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.741;DP=347;FS=0.399;HRun=8;HaplotypeScore=321.5842;MQ=57.39;MQ0=0;MQRankSum=2.591;QD=13.48;ReadPosRankSum=-1.206;SB=-2147.52;TI=NM_000092;GI=COL4A4;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:173,169:347:99:4677,0,3743:0.494:99 chr2 227871474 rs34486270 AT A 2738.59 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.674;DP=240;FS=1.655;HRun=11;HaplotypeScore=430.7117;MQ=52.78;MQ0=0;MQRankSum=-0.221;QD=11.41;ReadPosRankSum=1.174;SB=-1007.97;TI=NM_000092;GI=COL4A4;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:121,111:240:99:2778,0,2383:0.478:99 chr2 227872182 rs2228557 G A 2740.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.531;DP=273;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=9.9356;MQ=51.62;MQ0=0;MQRankSum=1.675;QD=10.04;ReadPosRankSum=-1.181;SB=-2088.64;TI=NM_000092;GI=COL4A4;FC=Synonymous_F1644F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:145,128:273:99:2771,0,3103:0.469:99 chr2 227872995 rs2228555 T C 2036.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.178;DP=162;Dels=0.00;FS=1.265;HRun=0;HaplotypeScore=14.3489;MQ=49.59;MQ0=0;MQRankSum=-2.459;QD=12.57;ReadPosRankSum=1.435;SB=-1543.16;TI=NM_000092;GI=COL4A4;FC=Synonymous_V1516V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:66,95:162:99:2066,0,1393:0.590:99 chr2 227886773 rs3752895 A G 4135.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.300;DP=344;Dels=0.00;FS=4.854;HRun=4;HaplotypeScore=22.3468;MQ=50.61;MQ0=0;MQRankSum=-0.032;QD=12.02;ReadPosRankSum=-1.722;SB=-2786.64;TI=NM_000092;GI=COL4A4;FC=Missense_S1403P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:162,181:344:99:4136,0,3737:0.528:99 chr2 227886785 . T A 3713.18 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.491;DP=334;Dels=0.00;FS=2.967;HRun=1;HaplotypeScore=27.1739;MQ=50.91;MQ0=0;MQRankSum=0.080;QD=11.12;ReadPosRankSum=-1.013;SB=-2578.38;TI=NM_000092;GI=COL4A4;FC=Missense_M1399L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:166,167:334:99:3713,0,3772:0.502:99 chr2 227892619 rs3817490 C T 7402.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.350;DP=702;Dels=0.00;FS=2.662;HRun=0;HaplotypeScore=28.9678;MQ=52.50;MQ0=0;MQRankSum=2.844;QD=10.54;ReadPosRankSum=-1.029;SB=-4862.36;TI=NM_000092;GI=COL4A4;FC=Synonymous_P1360P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:376,325:702:99:7403,0,8724:0.464:99 chr2 227892720 rs2229813 C T 8885.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.246;DP=835;Dels=0.00;FS=2.818;HRun=1;HaplotypeScore=131.5428;MQ=51.99;MQ0=0;MQRankSum=3.887;QD=10.64;ReadPosRankSum=1.548;SB=-5445.59;TI=NM_000092;GI=COL4A4;FC=Missense_V1327M;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:433,398:835:99:8885,0,9870:0.479:99 chr2 227896886 rs2229812 C T 1976.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.667;DP=185;Dels=0.00;FS=1.880;HRun=3;HaplotypeScore=5.6584;MQ=55.55;MQ0=0;MQRankSum=2.533;QD=10.68;ReadPosRankSum=0.863;SB=-1120.32;TI=NM_000092;GI=COL4A4;FC=Synonymous_K1228K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:102,83:185:99:2006,0,2675:0.449:99 chr2 227896976 rs10203363 C T 1973.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.275;DP=210;Dels=0.00;FS=3.220;HRun=0;HaplotypeScore=9.0945;MQ=48.83;MQ0=0;MQRankSum=-1.013;QD=9.40;ReadPosRankSum=-1.790;SB=-1264.04;TI=NM_000092;GI=COL4A4;FC=Synonymous_G1198G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:121,89:210:99:2004,0,2815:0.424:99 chr2 228111435 rs10178458 T C 8961.49 PASS AC=2;AF=1.00;AN=2;DP=359;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=20.2335;MQ=49.37;MQ0=0;QD=24.96;SB=-6689.94;TI=NM_000091;GI=COL4A3;FC=Missense_L141P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,358:359:99:8961,629,0:1.000:99 chr2 228113175 rs6436669 A G 13323.19 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.709;DP=450;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=24.3842;MQ=53.94;MQ0=0;MQRankSum=1.292;QD=29.61;ReadPosRankSum=-1.246;SB=-6606.77;TI=NM_000091;GI=COL4A3;FC=Missense_E162G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,448:450:99:13323,978,0:0.998:99 chr2 228128540 rs10205042 C T 14572.57 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.196;DP=487;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=18.2669;MQ=52.62;MQ0=0;MQRankSum=0.144;QD=29.92;ReadPosRankSum=-1.337;SB=-6791.66;TI=NM_000091;GI=COL4A3;FC=Synonymous_L399L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,483:487:99:14573,1030,0:0.996:99 chr2 228128568 rs34505188 G A 6116.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.514;DP=544;Dels=0.00;FS=0.660;HRun=0;HaplotypeScore=29.9486;MQ=51.36;MQ0=0;MQRankSum=3.000;QD=11.24;ReadPosRankSum=-1.592;SB=-3185.73;TI=NM_000091;GI=COL4A3;FC=Missense_R408H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:289,252:544:99:6117,0,6867:0.466:99 chr2 228131169 rs11677877 A G 7141.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.377;DP=652;Dels=0.00;FS=1.241;HRun=0;HaplotypeScore=33.5390;MQ=53.01;MQ0=0;MQRankSum=2.474;QD=10.95;ReadPosRankSum=1.056;SB=-4440.82;TI=NM_000091;GI=COL4A3;FC=Missense_H451R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:343,309:652:99:7141,0,8286:0.474:99 chr2 228131752 rs34019152 G A 2517.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.062;DP=265;Dels=0.00;FS=4.269;HRun=0;HaplotypeScore=28.6654;MQ=49.59;MQ0=0;MQRankSum=-0.912;QD=9.50;ReadPosRankSum=0.370;SB=-1550.67;TI=NM_000091;GI=COL4A3;FC=Synonymous_G484G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:149,113:265:99:2547,0,3159:0.431:99 chr2 228176901 rs2070735 A C 2673.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.097;DP=283;Dels=0.00;FS=0.931;HRun=0;HaplotypeScore=17.6529;MQ=53.22;MQ0=0;MQRankSum=0.903;QD=9.45;ReadPosRankSum=-1.047;SB=-1846.16;TI=NM_000091;GI=COL4A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:161,120:283:99:2704,0,3769:0.427:99 chr2 228177479 rs7587228 C T 5321.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.576;DP=426;Dels=0.00;FS=0.732;HRun=1;HaplotypeScore=30.1341;MQ=48.72;MQ0=0;MQRankSum=-0.579;QD=12.49;ReadPosRankSum=1.936;SB=-3676.43;TI=NM_000091;GI=COL4A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:187,239:426:99:5321,0,4342:0.561:99 chr2 228177567 rs1134745 C T 3580.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.805;DP=319;Dels=0.00;FS=6.869;HRun=4;HaplotypeScore=31.7648;MQ=51.74;MQ0=0;MQRankSum=4.235;QD=11.22;ReadPosRankSum=0.819;SB=-1981.93;TI=NM_000091;GI=COL4A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:172,147:319:99:3580,0,3948:0.461:99 chr2 228177642 . TA T 3104.95 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.442;DP=310;FS=1.009;HRun=14;HaplotypeScore=741.7437;MQ=51.81;MQ0=0;MQRankSum=-0.389;QD=10.02;ReadPosRankSum=-0.258;SB=-1313.01;TI=NM_000091;GI=COL4A3;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:108,124:310:99:3144,0,1110:0.534:99 chr2 228177825 rs10188531 C G 3193.49 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.391;DP=339;Dels=0.00;FS=2.363;HRun=0;HaplotypeScore=16.5759;MQ=46.66;MQ0=0;MQRankSum=0.544;QD=9.42;ReadPosRankSum=0.698;SB=-2007.75;TI=NM_000091;GI=COL4A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:191,148:339:99:3223,0,4219:0.437:99 chr2 228178645 rs4290648 C G 1751.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.124;DP=164;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2259;MQ=55.75;MQ0=0;MQRankSum=1.019;QD=10.68;ReadPosRankSum=3.934;SB=-985.34;TI=NM_000091;GI=COL4A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:92,71:164:99:1782,0,2134:0.436:99 chr2 228178780 rs7567291 A C 7501.71 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.721;DP=300;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=8.1248;MQ=47.82;MQ0=0;MQRankSum=1.709;QD=25.01;ReadPosRankSum=-1.721;SB=-5321.54;TI=NM_000091;GI=COL4A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,299:300:99:7502,530,0:0.997:99 chr2 228179038 rs4470338 T C 2573.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.017;DP=213;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3539;MQ=54.01;MQ0=0;MQRankSum=2.276;QD=12.08;ReadPosRankSum=1.049;SB=-1348.38;TI=NM_000091;GI=COL4A3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:109,104:213:99:2604,0,2978:0.488:99 chr2 231050715 rs3948464 A G 12349.58 PASS AC=2;AF=1.00;AN=2;DP=494;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=23.6287;MQ=48.23;MQ0=0;QD=25.00;SB=-8373.14;TI=NM_004509,NM_080424,NM_004510,NM_001185015;GI=SP110,SP110,SP110,SP110;FC=Missense_L425S,Missense_L425S,Missense_L425S,Missense_L431S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,493:494:99:12350,873,0:1.000:99 chr2 231072709 rs1365776 C T 27962.57 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=3.359;DP=1006;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=42.0297;MQ=53.22;MQ0=0;MQRankSum=1.819;QD=27.80;ReadPosRankSum=2.137;SB=-15379.44;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 1/1:4,998:1006:99:27963,1997,0:0.996:99 chr2 231077112 rs28930679 G A 9972.20 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.786;DP=408;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=19.9868;MQ=49.45;MQ0=0;MQRankSum=1.558;QD=24.44;ReadPosRankSum=1.684;SB=-7400.79;TI=NM_004509,NM_080424,NM_004510,NM_001185015;GI=SP110,SP110,SP110,SP110;FC=Missense_A206V,Missense_A206V,Missense_A206V,Missense_A212V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,405:408:99:9972,658,0:0.995:99 chr2 231077725 rs1129411 A G 11904.65 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.534;DP=499;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.9326;MQ=46.29;MQ0=0;MQRankSum=0.135;QD=23.86;ReadPosRankSum=1.712;SB=-9580.80;TI=NM_004509,NM_080424,NM_004510,NM_001185015;GI=SP110,SP110,SP110,SP110;FC=Missense_W112R,Missense_W112R,Missense_W112R,Missense_W118R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,494:499:99:11905,786,0:0.994:99 chr2 233400074 rs2767 A G 2639.67 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.087;DP=262;Dels=0.00;FS=3.420;HRun=1;HaplotypeScore=13.5130;MQ=46.68;MQ0=0;MQRankSum=-1.307;QD=10.08;ReadPosRankSum=1.867;SB=-2048.16;TI=NM_000751;GI=CHRND;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:134,128:262:99:2670,0,2856:0.489:99 chr2 233406178 rs2289080 G A 4835.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.878;DP=468;Dels=0.00;FS=0.693;HRun=0;HaplotypeScore=20.8929;MQ=48.74;MQ0=0;MQRankSum=-2.416;QD=10.33;ReadPosRankSum=-1.552;SB=-3796.83;TI=NM_005199;GI=CHRNG;FC=Missense_A149T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:235,233:468:99:4836,0,4911:0.498:99 chr2 233408325 rs75369104 C A 3723.55 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.035;DP=408;Dels=0.00;FS=1.613;HRun=0;HaplotypeScore=11.7593;MQ=45.89;MQ0=0;MQRankSum=-3.296;QD=9.13;ReadPosRankSum=-1.305;SB=-2921.95;TI=NM_005199;GI=CHRNG;FC=Synonymous_I317I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:225,183:408:99:3724,0,4813:0.449:99 chr2 233410503 rs11690038 T C 2185.32 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.419;DP=237;Dels=0.00;FS=0.479;HRun=1;HaplotypeScore=5.3371;MQ=43.71;MQ0=0;MQRankSum=-1.394;QD=9.22;ReadPosRankSum=1.860;SB=-1700.13;TI=NM_005199;GI=CHRNG;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:128,109:237:99:2215,0,2718:0.460:99 chr2 233410903 rs59295139 C A 680.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.123;DP=52;Dels=0.00;FS=2.527;HRun=0;HaplotypeScore=6.3145;MQ=44.45;MQ0=0;MQRankSum=-1.481;QD=13.08;ReadPosRankSum=-2.387;SB=-293.63;TI=NM_005199;GI=CHRNG;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,27:52:99:710,0,645:0.529:99 chr2 233411039 . A T 203.28 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.531;DP=45;Dels=0.00;FS=40.204;HRun=20;HaplotypeScore=23.5044;MQ=39.22;MQ0=0;MQRankSum=-2.397;QD=4.52;ReadPosRankSum=-3.201;SB=-0.01 GT:AD:DP:GQ:PL:VF:GQX 0/1:29,14:45:99:233,0,714:0.326:99 chr2 238243292 rs1131296 G A 2885.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.053;DP=306;Dels=0.00;FS=3.798;HRun=0;HaplotypeScore=9.1441;MQ=45.45;MQ0=0;MQRankSum=-2.012;QD=9.43;ReadPosRankSum=-0.600;SB=-2064.41;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 0/1:165,140:306:99:2915,0,3595:0.459:99 chr2 238243464 rs2270669 C G 5563.58 PASS AC=2;AF=1.00;AN=2;DP=216;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=17.2850;MQ=48.72;MQ0=0;QD=25.76;SB=-3784.41;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 1/1:0,216:216:99:5564,397,0:1.000:99 chr2 238244963 rs6728818 A G 2497.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.571;DP=194;Dels=0.00;FS=1.821;HRun=0;HaplotypeScore=16.4733;MQ=52.99;MQ0=0;MQRankSum=2.239;QD=12.87;ReadPosRankSum=0.672;SB=-1454.67;TI=NM_004369,NM_057166,NM_057167;GI=COL6A3,COL6A3,COL6A3;FC=Missense_M2927T,Missense_M2320T,Missense_M2721T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:91,102:194:99:2527,0,2024:0.528:99 chr2 238249462 . C T 2287.47 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.631;DP=174;Dels=0.00;FS=6.565;HRun=0;HaplotypeScore=15.5543;MQ=54.43;MQ0=0;MQRankSum=0.423;QD=13.15;ReadPosRankSum=0.017;SB=-1547.25;TI=NM_004369,NM_057166,NM_057167;GI=COL6A3,COL6A3,COL6A3;FC=Synonymous_V2699V,Synonymous_V2092V,Synonymous_V2493V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:76,98:174:99:2317,0,1747:0.563:99 chr2 238249630 rs4433949 C T 2224.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.224;DP=237;Dels=0.00;FS=1.003;HRun=0;HaplotypeScore=9.0466;MQ=49.87;MQ0=0;MQRankSum=0.805;QD=9.39;ReadPosRankSum=-2.021;SB=-1664.87;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 0/1:131,106:237:99:2254,0,2888:0.447:99 chr2 238253065 rs2291795 C T 5417.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.176;DP=528;Dels=0.00;FS=3.177;HRun=2;HaplotypeScore=33.7758;MQ=50.67;MQ0=0;MQRankSum=5.982;QD=10.26;ReadPosRankSum=1.876;SB=-3501.02;TI=NM_004369,NM_057166,NM_057167;GI=COL6A3,COL6A3,COL6A3;FC=Synonymous_K2532K,Synonymous_K1925K,Synonymous_K2326K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:280,245:528:99:5418,0,6345:0.467:99 chr2 238258814 rs3790993 C G 5703.94 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.467;DP=241;Dels=0.00;FS=3.102;HRun=0;HaplotypeScore=15.4562;MQ=43.49;MQ0=0;MQRankSum=1.100;QD=23.67;ReadPosRankSum=0.122;SB=-4460.20;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 1/1:1,240:241:99:5704,360,0:0.996:99 chr2 238267717 rs2646254 C T 14558.95 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.228;DP=554;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=18.8816;MQ=50.29;MQ0=0;MQRankSum=-0.569;QD=26.28;ReadPosRankSum=-1.870;SB=-9648.56;TI=NM_004369,NM_057166,NM_057167;GI=COL6A3,COL6A3,COL6A3;FC=Synonymous_L2123L,Synonymous_L1516L,Synonymous_L1917L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,552:554:99:14559,991,0:0.996:99 chr2 238277573 rs2645774 C A 4680.77 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.172;DP=372;Dels=0.00;FS=0.789;HRun=1;HaplotypeScore=23.7230;MQ=50.08;MQ0=0;MQRankSum=1.351;QD=12.58;ReadPosRankSum=0.883;SB=-3152.50;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 0/1:166,204:372:99:4681,0,3628:0.551:99 chr2 238277795 rs2646260 A G 5166.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.484;DP=537;Dels=0.00;FS=3.184;HRun=0;HaplotypeScore=17.5900;MQ=48.88;MQ0=0;MQRankSum=-0.545;QD=9.62;ReadPosRankSum=0.617;SB=-3339.84;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 0/1:295,242:537:99:5167,0,6295:0.451:99 chr2 238283605 rs12622093 G A 4062.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.075;DP=363;Dels=0.00;FS=0.386;HRun=2;HaplotypeScore=25.8789;MQ=46.49;MQ0=0;MQRankSum=0.876;QD=11.19;ReadPosRankSum=0.046;SB=-2953.99;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 0/1:170,192:363:99:4062,0,3598:0.530:99 chr3 13896140 rs3762719 A G 11961.67 PASS AC=2;AF=1.00;AN=2;DP=468;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=16.4979;MQ=50.94;MQ0=0;QD=25.56;SB=-8888.70;TI=NM_004625;GI=WNT7A;FC=Synonymous_S153S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,468:468:99:11962,843,0:1.000:99 chr3 13896284 rs12639607 C T 3720.12 PASS AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6821;MQ=50.95;MQ0=0;QD=28.62;SB=-1733.04;TI=NM_004625;GI=WNT7A;FC=Synonymous_A105A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,130:130:99:3720,268,0:1.000:99 chr3 13921477 rs73151669 G T 437.29 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.037;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6402;MQ=42.04;MQ0=0;MQRankSum=1.179;QD=8.41;ReadPosRankSum=1.271;SB=-366.11;TI=NM_004625;GI=WNT7A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,23:52:99:467,0,597:0.442:99 chr3 13921605 . A C 34.30 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.720;DP=6;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9363;MQ=37.00;MQ0=0;MQRankSum=1.380;QD=5.72;ReadPosRankSum=1.380;SB=-0.01;TI=NM_004625;GI=WNT7A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,2:6:64.29:64,0,83:0.333:34 chr3 14186757 rs1126547 C G 8124.13 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.695;DP=279;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.2948;MQ=54.22;MQ0=0;MQRankSum=1.670;QD=29.12;ReadPosRankSum=1.109;SB=-4031.00;TI=NM_004628,NM_001145769,NR_027299;GI=XPC,XPC,XPC;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,277:279:99:8124,596,0:0.996:99 chr3 14187449 rs2228001 G T 1167.42 SB AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.23;MQ0=0;QD=38.91;SB=-0.01;TI=NM_004628,NM_001145769,NR_027299;GI=XPC,XPC,XPC;FC=Missense_Q939K,Missense_Q902K,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,30:30:90.29:1200,90,0:1.000:90 chr3 14197987 rs2958057 A T 9660.07 PASS AC=2;AF=1.00;AN=2;DP=363;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=10.8347;MQ=50.31;MQ0=0;QD=26.61;SB=-6853.42;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 1/1:0,362:363:99:9660,689,0:1.000:99 chr3 14220023 rs1870134 G C 20152.79 PASS AC=2;AF=1.00;AN=2;DP=774;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=35.4735;MQ=52.42;MQ0=0;QD=26.04;SB=-13255.84;TI=NM_004628,NM_001145769,NR_027299;GI=XPC,XPC,XPC;FC=Missense_L16V,Missense_L16V,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,772:774:99:20153,1436,0:1.000:99 chr3 15686464 . C T 1157.99 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.123;DP=82;Dels=0.00;FS=1.196;HRun=0;HaplotypeScore=4.5383;MQ=59.44;MQ0=0;MQRankSum=0.706;QD=14.12;ReadPosRankSum=-0.789;SB=-247.13;TI=NM_000060;GI=BTD;FC=Synonymous_G367G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,43:82:99:1188,0,1078:0.524:99 chr3 33038183 rs12167 A G 6649.31 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.459;DP=529;Dels=0.00;FS=5.335;HRun=0;HaplotypeScore=18.7635;MQ=53.02;MQ0=0;MQRankSum=0.330;QD=12.57;ReadPosRankSum=0.821;SB=-4145.99;TI=NM_001079811,NM_000404,NM_001135602;GI=GLB1,GLB1,GLB1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:246,283:529:99:6649,0,5532:0.535:99 chr3 33055721 rs4302331 A G 6014.64 PASS AC=2;AF=1.00;AN=2;DP=243;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5679;MQ=46.95;MQ0=0;QD=24.75;SB=-4474.46;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 1/1:0,243:243:99:6015,421,0:1.000:99 chr3 33138544 rs7614776 A G 14278.94 PASS AC=2;AF=1.00;AN=2;DP=579;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=23.9113;MQ=49.95;MQ0=0;QD=24.66;SB=-10834.27;TI=NM_000404,NM_001135602;GI=GLB1,GLB1;FC=Synonymous_L12L,Synonymous_L12L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,579:579:99:14279,999,0:1.000:99 chr3 33138549 rs7637099 G A 6591.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.608;DP=571;Dels=0.00;FS=0.631;HRun=1;HaplotypeScore=19.2279;MQ=50.18;MQ0=0;MQRankSum=0.172;QD=11.54;ReadPosRankSum=-0.415;SB=-4904.60;TI=NM_000404,NM_001135602;GI=GLB1,GLB1;FC=Missense_P10L,Missense_P10L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:260,308:571:99:6592,0,5588:0.542:99 chr3 33161898 rs4076086 C T 3568.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.179;DP=339;Dels=0.00;FS=2.337;HRun=0;HaplotypeScore=18.1973;MQ=50.53;MQ0=0;MQRankSum=0.249;QD=10.53;ReadPosRankSum=-0.199;SB=-2553.38;TI=NM_006371;GI=CRTAP;FC=Synonymous_D178D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:171,168:339:99:3569,0,3869:0.496:99 chr3 33185027 . G GGAACTA 6513.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.087;DP=331;FS=2.079;HRun=0;HaplotypeScore=148.1545;MQ=47.60;MQ0=0;MQRankSum=6.968;QD=19.68;ReadPosRankSum=4.812;SB=-3145.31;TI=NM_006371;GI=CRTAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:240,89:331:99:6514,0,16985:0.271:99 chr3 33185407 rs4678475 G A 1227.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.926;DP=95;Dels=0.00;FS=5.362;HRun=0;HaplotypeScore=9.9129;MQ=53.26;MQ0=0;MQRankSum=-0.167;QD=12.92;ReadPosRankSum=0.865;SB=-772.80;TI=NM_006371;GI=CRTAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:43,51:95:99:1257,0,1032:0.543:99 chr3 33185798 rs4678476 T A 5773.87 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.683;DP=210;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=14.4819;MQ=52.73;MQ0=0;MQRankSum=1.683;QD=27.49;ReadPosRankSum=-0.891;SB=-3914.41;TI=NM_006371;GI=CRTAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,209:210:99:5774,412,0:0.995:99 chr3 33186356 rs1127898 T C 3321.83 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.052;DP=277;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2175;MQ=51.40;MQ0=0;MQRankSum=0.951;QD=11.99;ReadPosRankSum=0.734;SB=-2286.80;TI=NM_006371;GI=CRTAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:127,150:277:99:3322,0,2864:0.542:99 chr3 33187425 rs1132392 G A 1124.32 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.846;DP=66;Dels=0.00;FS=1.101;HRun=0;HaplotypeScore=0.0000;MQ=55.33;MQ0=0;MQRankSum=2.408;QD=17.04;ReadPosRankSum=-0.558;SB=-390.53;TI=NM_006371;GI=CRTAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,40:66:99:1154,0,683:0.606:99 chr3 33187520 . T TA 432.73 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.328;DP=212;FS=0.000;HRun=12;HaplotypeScore=503.8652;MQ=51.52;MQ0=0;MQRankSum=2.157;QD=2.04;ReadPosRankSum=0.009;SB=-185.27;TI=NM_006371;GI=CRTAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:149,41:212:99:472,0,3369:0.216:99 chr3 33187831 rs4678478 C T 1246.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.126;DP=93;Dels=0.00;FS=1.766;HRun=1;HaplotypeScore=5.4114;MQ=49.31;MQ0=0;MQRankSum=-0.930;QD=13.41;ReadPosRankSum=0.600;SB=-928.56;TI=NM_006371;GI=CRTAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:37,56:93:99:1277,0,785:0.602:99 chr3 33188384 rs72155210 TA T 580.13 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.559;DP=128;FS=1.524;HRun=13;HaplotypeScore=333.5363;MQ=54.68;MQ0=0;MQRankSum=1.777;QD=4.53;ReadPosRankSum=0.909;SB=-292.33;TI=NM_006371;GI=CRTAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:85,35:128:99:619,0,1713:0.292:99 chr3 38184021 rs7744 A G 3480.72 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.526;DP=357;Dels=0.00;FS=0.808;HRun=0;HaplotypeScore=15.8179;MQ=47.59;MQ0=0;MQRankSum=-0.533;QD=9.75;ReadPosRankSum=-2.203;SB=-2529.07;TI=NM_001172567,NM_001172568,NM_002468,NM_001172566,NM_001172569;GI=MYD88,MYD88,MYD88,MYD88,MYD88;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:191,166:357:99:3481,0,4325:0.465:99 chr3 48507531 . G C 55.26 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DP=5;Dels=0.00;FS=10.000;HRun=0;HaplotypeScore=0.0000;MQ=44.10;MQ0=0;MQRankSum=-1.231;QD=11.05;ReadPosRankSum=-1.231;SB=-2.05;TI=NM_033629,NM_016381;GI=TREX1,TREX1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,3:5:64.92:85,0,65:0.600:55 chr3 48507532 . G A 24.85 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=44.10;MQ0=0;MQRankSum=-1.231;QD=4.97;ReadPosRankSum=-1.231;SB=-1.25;TI=NM_033629,NM_016381;GI=TREX1,TREX1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,3:5:54.83:55,0,66:0.600:24 chr3 48508585 rs11797 C T 2234.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.482;DP=194;Dels=0.00;FS=1.122;HRun=0;HaplotypeScore=8.2305;MQ=45.51;MQ0=0;MQRankSum=1.160;QD=11.52;ReadPosRankSum=-0.192;SB=-1618.19;TI=NM_033629,NM_016381;GI=TREX1,TREX1;FC=Synonymous_Y177Y,Synonymous_Y232Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:89,105:194:99:2265,0,1881:0.541:99 chr3 48625266 rs1264194 T C 3443.71 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.005;DP=311;Dels=0.00;FS=1.367;HRun=1;HaplotypeScore=10.9597;MQ=48.70;MQ0=0;MQRankSum=-0.730;QD=11.07;ReadPosRankSum=-0.606;SB=-2446.81;TI=NM_000094;GI=COL7A1;FC=Synonymous_P939P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:155,154:311:99:3444,0,3311:0.498:99 chr3 49454277 rs10640 G A 3102.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.293;DP=310;Dels=0.00;FS=0.423;HRun=0;HaplotypeScore=15.6796;MQ=46.87;MQ0=0;MQRankSum=-0.533;QD=10.01;ReadPosRankSum=1.398;SB=-2170.96;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 0/1:161,148:310:99:3132,0,3347:0.479:99 chr3 49455330 rs11715915 C T 5529.47 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.061;DP=534;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=25.6478;MQ=48.03;MQ0=0;MQRankSum=1.424;QD=10.35;ReadPosRankSum=3.115;SB=-3770.75;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 0/1:277,257:534:99:5529,0,5802:0.481:99 chr3 53122896 . T G 41.45 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.133;DP=11;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4262;MQ=45.77;MQ0=0;MQRankSum=-2.383;QD=3.77;ReadPosRankSum=-2.383;SB=-0.01;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,4:11:71.44:71,0,174:0.400:41 chr3 53122924 . G A 55.26 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.720;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5596;MQ=41.96;MQ0=0;MQRankSum=-1.380;QD=9.21;ReadPosRankSum=0.720;SB=-0.01;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,4:6:63.40:85,0,63:0.667:55 chr3 53122927 . C A 21.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.406;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5596;MQ=44.98;MQ0=0;MQRankSum=-1.537;QD=3.12;ReadPosRankSum=1.537;SB=-0.01;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,3:7:51.82:52,0,99:0.500:21 chr3 53122935 . A G 48.44 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.537;DP=6;Dels=0.00;FS=3.979;HRun=0;HaplotypeScore=1.7882;MQ=47.12;MQ0=0;MQRankSum=-1.537;QD=8.07;ReadPosRankSum=1.537;SB=-0.00;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,3:6:78.44:78,0,104:0.500:48 chr3 53122938 . G C 17.02 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DP=7;Dels=0.00;FS=3.979;HRun=0;HaplotypeScore=1.7882;MQ=49.17;MQ0=0;MQRankSum=-0.922;QD=2.43;ReadPosRankSum=0.922;SB=-0.01;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,2:7:46.93:47,0,141:0.286:17 chr3 53122939 . T C 48.31 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.754;DP=7;Dels=0.00;FS=8.451;HRun=1;HaplotypeScore=1.7882;MQ=49.17;MQ0=0;MQRankSum=-1.754;QD=6.90;ReadPosRankSum=1.300;SB=-0.00;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,3:7:78.30:78,0,139:0.429:48 chr3 53122974 . A G 11.40 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DP=7;Dels=0.00;FS=11.761;HRun=0;HaplotypeScore=0.8941;MQ=49.17;MQ0=0;MQRankSum=-0.922;QD=1.63;ReadPosRankSum=0.922;SB=-1.25;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,2:7:41.07:41,0,139:0.286:11 chr3 53122976 . C T 15.92 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.517;DP=8;Dels=0.00;FS=13.222;HRun=0;HaplotypeScore=1.8914;MQ=50.65;MQ0=0;MQRankSum=-1.920;QD=1.99;ReadPosRankSum=0.322;SB=-1.25;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,3:8:45.80:46,0,179:0.375:15 chr3 53122979 . T A 15.92 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.881;DP=9;Dels=0.00;FS=13.222;HRun=0;HaplotypeScore=4.8686;MQ=48.72;MQ0=0;MQRankSum=-2.219;QD=1.77;ReadPosRankSum=-0.876;SB=-1.25;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,4:9:45.80:46,0,179:0.444:15 chr3 53122988 . T A 10.23 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.818;DP=10;Dels=0.00;FS=10.792;HRun=5;HaplotypeScore=7.8952;MQ=49.96;MQ0=0;MQRankSum=-2.166;QD=1.02;ReadPosRankSum=0.296;SB=0.04;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,3:10:39.79:40,0,242:0.300:10 chr3 53122998 . A G 10.22 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.386;DP=10;Dels=0.00;FS=10.792;HRun=0;HaplotypeScore=6.8026;MQ=49.96;MQ0=0;MQRankSum=-1.580;QD=1.02;ReadPosRankSum=-0.895;SB=0.00;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,3:10:39.78:40,0,248:0.300:10 chr3 53123007 . C T 73.65 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.036;DP=10;Dels=0.00;FS=23.222;HRun=0;HaplotypeScore=3.7848;MQ=49.96;MQ0=0;MQRankSum=-2.383;QD=7.36;ReadPosRankSum=-2.383;SB=-2.50;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,4:10:99:104,0,213:0.400:73 chr3 53123013 . T A 13.02 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.762;DP=9;Dels=0.00;FS=14.472;HRun=0;HaplotypeScore=0.8941;MQ=51.77;MQ0=0;MQRankSum=-1.666;QD=1.45;ReadPosRankSum=-1.179;SB=-1.25;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,2:9:42.79:43,0,216:0.222:13 chr3 53123017 . G A 10.22 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.762;DP=9;Dels=0.00;FS=15.563;HRun=0;HaplotypeScore=0.0000;MQ=54.65;MQ0=0;MQRankSum=-1.666;QD=1.14;ReadPosRankSum=-1.666;SB=-1.25;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,2:9:39.78:40,0,248:0.222:10 chr3 53123021 . G C 10.22 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.179;DP=9;Dels=0.00;FS=15.563;HRun=0;HaplotypeScore=0.8941;MQ=54.65;MQ0=0;MQRankSum=-1.666;QD=1.14;ReadPosRankSum=-1.666;SB=-1.25;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,2:9:39.78:40,0,249:0.222:10 chr3 53123022 . G A 10.23 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.762;DP=9;Dels=0.00;FS=15.563;HRun=0;HaplotypeScore=0.8941;MQ=54.65;MQ0=0;MQRankSum=-1.666;QD=1.14;ReadPosRankSum=-1.666;SB=-1.25;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,2:9:39.79:40,0,244:0.222:10 chr3 53123024 . G A 10.23 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.762;DP=9;Dels=0.00;FS=15.563;HRun=0;HaplotypeScore=0.8941;MQ=54.65;MQ0=0;MQRankSum=-1.666;QD=1.14;ReadPosRankSum=-1.666;SB=-1.25;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,2:9:39.79:40,0,238:0.222:10 chr3 53123032 rs2099162 C T 558.64 LowDP AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9108;MQ=58.45;MQ0=0;QD=37.24;SB=-68.66;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,15:15:45.14:592,45,0:1.000:45 chr3 53123273 rs891368 A G 2617.63 PASS AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=54.14;MQ0=0;QD=30.80;SB=-1426.62;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,85:85:99:2651,196,0:1.000:99 chr3 53123486 rs1078968 G A 5884.85 PASS AC=2;AF=1.00;AN=2;DP=224;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.8287;MQ=51.44;MQ0=0;QD=26.27;SB=-4123.57;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,224:224:99:5885,415,0:1.000:99 chr3 53125469 rs2564922 G A 8317.17 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.623;DP=285;Dels=0.00;FS=3.421;HRun=1;HaplotypeScore=16.7758;MQ=52.14;MQ0=0;MQRankSum=1.659;QD=29.18;ReadPosRankSum=-0.529;SB=-4869.57;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,284:285:99:8317,588,0:0.996:99 chr3 53125585 rs2564921 T C 9999.97 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.368;DP=380;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.4083;MQ=50.51;MQ0=0;MQRankSum=0.495;QD=26.32;ReadPosRankSum=-0.907;SB=-6742.79;TI=NM_052859;GI=RFT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,376:380:99:10000,678,0:0.992:99 chr3 53125922 rs11242 T C 1791.40 PASS AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3645;MQ=56.76;MQ0=0;QD=25.96;SB=-1162.37;TI=NM_052859;GI=RFT1;FC=Synonymous_T541T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,69:69:99:1824,132,0:1.000:99 chr3 81539382 rs846 C T 3403.11 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.406;DP=324;Dels=0.00;FS=2.424;HRun=0;HaplotypeScore=16.4698;MQ=52.25;MQ0=0;MQRankSum=1.279;QD=10.50;ReadPosRankSum=0.696;SB=-2062.71;TI=NM_000158;GI=GBE1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:177,146:324:99:3403,0,4192:0.452:99 chr3 81643167 rs2172397 T C 22050.92 PASS AC=2;AF=1.00;AN=2;DP=862;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=43.0927;MQ=52.93;MQ0=0;QD=25.58;SB=-16211.27;TI=NM_000158;GI=GBE1;FC=Missense_I334V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,860:862:99:22051,1553,0:1.000:99 chr3 81698130 rs2229519 T C 9846.61 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.723;DP=799;Dels=0.00;FS=3.263;HRun=1;HaplotypeScore=18.5316;MQ=53.16;MQ0=0;MQRankSum=2.402;QD=12.32;ReadPosRankSum=1.317;SB=-6137.30;TI=NM_000158;GI=GBE1;FC=Missense_R190G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:362,437:799:99:9847,0,7985:0.547:99 chr3 81810702 rs11391701 A AG 11747.29 PASS AC=2;AF=1.00;AN=2;DP=321;FS=0.000;HRun=2;HaplotypeScore=824.9462;MQ=57.32;MQ0=0;QD=36.60;SB=-5777.71;TI=NM_000158;GI=GBE1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:12,287:321:99:11747,873,0:0.960:99 chr3 81810725 rs2290081 C T 3461.23 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.825;DP=272;Dels=0.00;FS=2.718;HRun=0;HaplotypeScore=20.3930;MQ=56.17;MQ0=0;MQRankSum=0.708;QD=12.73;ReadPosRankSum=-0.342;SB=-1931.26;TI=NM_000158;GI=GBE1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:135,137:272:99:3461,0,3219:0.504:99 chr3 87308831 rs6792500 C T 16963.76 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.719;DP=548;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=32.2755;MQ=53.70;MQ0=0;MQRankSum=1.631;QD=30.96;ReadPosRankSum=0.297;SB=-5399.00;TI=NM_001122757,NM_000306;GI=POU1F1,POU1F1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,547:548:99:16964,1249,0:0.998:99 chr3 87308904 rs33936108 T A 7028.95 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.098;DP=623;Dels=0.00;FS=2.943;HRun=8;HaplotypeScore=52.1174;MQ=56.92;MQ0=0;MQRankSum=4.810;QD=11.28;ReadPosRankSum=-0.730;SB=-3896.88;TI=NM_001122757,NM_000306;GI=POU1F1,POU1F1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:330,290:623:99:7029,0,8350:0.468:99 chr3 121488995 rs1135750 C G 6300.70 PASS AC=2;AF=1.00;AN=2;DP=206;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5764;MQ=55.06;MQ0=0;QD=30.59;SB=-3219.24;TI=NM_001023570,NM_001023571;GI=IQCB1,IQCB1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,206:206:99:6301,460,0:1.000:99 chr3 121491462 . G C 3312.55 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.416;DP=309;Dels=0.00;FS=0.870;HRun=0;HaplotypeScore=10.0580;MQ=45.79;MQ0=0;MQRankSum=0.217;QD=10.72;ReadPosRankSum=-0.129;SB=-2364.69;TI=NM_001023570,NM_001023571;GI=IQCB1,IQCB1;FC=Synonymous_A503A,Synonymous_A370A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:159,148:309:99:3313,0,3351:0.482:99 chr3 121526204 rs4543051 G A 26425.67 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.589;DP=991;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=36.2578;MQ=50.81;MQ0=0;MQRankSum=-0.123;QD=26.67;ReadPosRankSum=0.180;SB=-17739.16;TI=NM_001023570,NM_001023571;GI=IQCB1,IQCB1;FC=Synonymous_L192L,Synonymous_L192L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,987:991:99:26426,1843,0:0.998:99 chr3 121553852 rs72421117 GCTCCCA G 32801.18 PASS AC=2;AF=1.00;AN=2;DP=378;FS=0.000;HRun=0;HaplotypeScore=147.6657;MQ=49.51;MQ0=0;QD=86.78;SB=-16108.69;TI=NM_001023570,NM_001023571;GI=IQCB1,IQCB1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:6,363:378:99:32801,1096,0:0.984:99 chr3 128598469 rs62783861 CGT C 10496.24 PASS AC=2;AF=1.00;AN=2;DP=241;FS=0.000;HRun=0;HaplotypeScore=138.1702;MQ=47.87;MQ0=3;QD=43.55;SB=-5042.09;TI=NR_033426,NM_014049;GI=ACAD9,ACAD9;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:11,230:238:99:10496,695,0:0.954:99 chr3 128614185 rs1680778 A C 6050.05 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.097;DP=251;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6488;MQ=45.95;MQ0=0;MQRankSum=1.221;QD=24.10;ReadPosRankSum=1.359;SB=-4670.74;TI=NR_033426,NM_014049;GI=ACAD9,ACAD9;FC=Silent,Synonymous_R127R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,250:251:99:6050,395,0:0.996:99 chr3 128627933 rs876755 C T 7667.15 PASS AC=2;AF=1.00;AN=2;DP=304;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.5681;MQ=47.98;MQ0=0;QD=25.22;SB=-5677.48;TI=NR_033426,NM_014049;GI=ACAD9,ACAD9;FC=Silent,Synonymous_P492P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,303:304:99:7667,542,0:1.000:99 chr3 132400102 . CTT C 682.78 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.443;DP=183;FS=1.743;HRun=23;HaplotypeScore=994.8506;MQ=43.90;MQ0=0;MQRankSum=0.962;QD=3.73;ReadPosRankSum=1.114;SB=-269.12;TI=NM_153240;GI=NPHP3;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:108,16:182:99:722,0,1179:0.129:99 chr3 132400284 . G T 71.23 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.612;DP=205;Dels=0.00;FS=50.823;HRun=9;HaplotypeScore=35.6540;MQ=51.33;MQ0=0;MQRankSum=-6.322;QD=0.35;ReadPosRankSum=-5.783;SB=-0.01;TI=NM_153240;GI=NPHP3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:189,16:205:99:101,0,4575:0.078:71 chr3 132400286 . A T 77.26 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.945;DP=203;Dels=0.00;FS=48.464;HRun=5;HaplotypeScore=23.9210;MQ=51.24;MQ0=0;MQRankSum=-6.577;QD=0.38;ReadPosRankSum=-5.580;SB=-0.01;TI=NM_153240;GI=NPHP3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:185,17:203:99:107,0,4444:0.084:77 chr3 132400295 . A T 105.95 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.874;DP=197;Dels=0.00;FS=47.877;HRun=1;HaplotypeScore=29.3523;MQ=50.81;MQ0=0;MQRankSum=-6.746;QD=0.54;ReadPosRankSum=-3.502;SB=-0.01;TI=NM_153240;GI=NPHP3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:179,18:197:99:136,0,4385:0.091:99 chr3 132400306 . T C 37.81 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.657;DP=193;Dels=0.00;FS=42.065;HRun=0;HaplotypeScore=14.6631;MQ=51.45;MQ0=0;MQRankSum=-6.396;QD=0.20;ReadPosRankSum=-1.619;SB=-0.01;TI=NM_153240;GI=NPHP3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:177,16:193:67.80:68,0,4677:0.083:37 chr3 132409455 rs16839515 C T 9088.60 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.732;DP=707;Dels=0.00;FS=0.568;HRun=0;HaplotypeScore=22.7321;MQ=51.43;MQ0=0;MQRankSum=1.547;QD=12.86;ReadPosRankSum=-0.356;SB=-5158.58;TI=NM_153240;GI=NPHP3;FC=Synonymous_P870P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:335,372:707:99:9089,0,8252:0.526:99 chr3 132438619 . G A 11805.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.446;DP=1081;Dels=0.00;FS=4.130;HRun=0;HaplotypeScore=34.0496;MQ=53.93;MQ0=0;MQRankSum=2.516;QD=10.92;ReadPosRankSum=-0.434;SB=-8959.66;TI=NM_153240;GI=NPHP3;FC=Missense_A150V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:520,559:1081:99:11805,0,10776:0.518:99 chr3 132441012 . C T 1871.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.326;DP=188;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1858;MQ=46.45;MQ0=0;MQRankSum=-1.887;QD=9.96;ReadPosRankSum=0.565;SB=-996.28;TI=NM_153240;GI=NPHP3;FC=Missense_G63E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:100,88:188:99:1902,0,2335:0.468:99 chr3 132441268 rs13099099 T C 1446.54 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.595;DP=147;Dels=0.00;FS=2.104;HRun=0;HaplotypeScore=14.7349;MQ=45.18;MQ0=0;MQRankSum=-0.177;QD=9.84;ReadPosRankSum=0.589;SB=-936.72;TI=NM_153240,NR_002811;GI=NPHP3,NCRNA00119;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:79,68:147:99:1477,0,1728:0.463:99 chr3 142168331 rs1802904 C T 21142.62 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.259;DP=810;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=26.6213;MQ=48.60;MQ0=0;MQRankSum=-0.685;QD=26.10;ReadPosRankSum=1.478;SB=-14529.89;TI=NM_001184;GI=ATR;FC=Synonymous_Q2625Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,808:810:99:21143,1455,0:0.998:99 chr3 142178144 rs2229032 C T 10091.47 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.250;DP=863;Dels=0.00;FS=7.802;HRun=1;HaplotypeScore=49.5338;MQ=50.41;MQ0=0;MQRankSum=1.846;QD=11.69;ReadPosRankSum=0.908;SB=-6003.75;TI=NM_001184;GI=ATR;FC=Missense_R2425Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:421,441:862:99:10091,0,9579:0.512:99 chr3 142277575 rs2227930 A T 10746.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.480;DP=896;Dels=0.00;FS=1.971;HRun=1;HaplotypeScore=39.9698;MQ=52.23;MQ0=0;MQRankSum=2.258;QD=11.99;ReadPosRankSum=1.810;SB=-6835.60;TI=NM_001184;GI=ATR;FC=Synonymous_G592G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:427,465:896:99:10746,0,9836:0.521:99 chr3 142281612 rs2227928 A G 6581.66 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.603;DP=607;Dels=0.00;FS=0.614;HRun=0;HaplotypeScore=40.1438;MQ=53.52;MQ0=0;MQRankSum=1.244;QD=10.84;ReadPosRankSum=-1.186;SB=-4305.69;TI=NM_001184;GI=ATR;FC=Missense_M211T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:327,277:605:99:6582,0,7755:0.459:99 chr3 150644247 rs3796239 C T 3917.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.386;DP=341;Dels=0.00;FS=0.840;HRun=0;HaplotypeScore=20.7803;MQ=48.83;MQ0=0;MQRankSum=1.579;QD=11.49;ReadPosRankSum=1.886;SB=-2068.31;TI=NM_052995;GI=CLRN1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:172,167:341:99:3917,0,4046:0.493:99 chr3 150644265 rs34818912 C CA 1642.87 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=4.803;DP=279;FS=0.000;HRun=12;HaplotypeScore=986.3605;MQ=51.17;MQ0=0;MQRankSum=0.494;QD=5.89;ReadPosRankSum=1.960;SB=-727.66;TI=NM_052995;GI=CLRN1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:142,91:279:99:1682,0,2995:0.391:99 chr3 150661842 rs11914988 T G 4141.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.741;DP=292;Dels=0.00;FS=0.931;HRun=3;HaplotypeScore=12.0960;MQ=50.80;MQ0=0;MQRankSum=0.705;QD=14.18;ReadPosRankSum=1.251;SB=-2400.61;TI=NM_052995,NM_174878,NM_001195794;GI=CLRN1,CLRN1,CLRN1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:119,173:292:99:4141,0,2585:0.592:99 chr3 150690439 rs3796242 T A 3113.86 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.160;DP=301;Dels=0.00;FS=1.381;HRun=1;HaplotypeScore=18.8419;MQ=51.27;MQ0=0;MQRankSum=1.140;QD=10.35;ReadPosRankSum=-1.176;SB=-2237.93;TI=NM_174878,NM_001195794;GI=CLRN1,CLRN1;FC=Synonymous_A19A,Synonymous_A19A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:158,141:301:99:3144,0,3531:0.472:99 chr3 150690566 rs3796240 T C 1703.54 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.289;DP=212;Dels=0.00;FS=1.791;HRun=2;HaplotypeScore=5.4346;MQ=53.59;MQ0=0;MQRankSum=1.927;QD=8.04;ReadPosRankSum=-0.308;SB=-994.12;TI=NM_174878,NM_001195794,NR_024066;GI=CLRN1,CLRN1,CLRN1OS;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:134,76:212:99:1734,0,3304:0.362:99 chr3 183960252 rs706584 A C 10160.88 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.356;DP=419;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=8.8312;MQ=49.25;MQ0=0;MQRankSum=-0.506;QD=24.25;ReadPosRankSum=-1.724;SB=-7419.56;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 1/1:2,417:419:99:10161,710,0:0.995:99 chr3 190030680 rs9869263 A G 9043.90 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.927;DP=367;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.2884;MQ=46.71;MQ0=0;MQRankSum=-0.044;QD=24.64;ReadPosRankSum=-0.573;SB=-6627.33;TI=NM_021101;GI=CLDN1;FC=Synonymous_G123G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,364:367:99:9044,605,0:0.995:99 chr3 190040207 rs12696600 C A 2218.86 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.375;DP=89;Dels=0.00;FS=2.431;HRun=0;HaplotypeScore=9.9659;MQ=50.23;MQ0=0;MQRankSum=1.466;QD=24.93;ReadPosRankSum=-0.489;SB=-1242.68;TI=NM_021101;GI=CLDN1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,86:89:92.80:2252,93,0:0.966:92 chr4 980971 rs10794537 T G 1065.76 PASS AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=43.38;MQ0=0;QD=25.99;SB=-580.50;TI=NM_134425,NM_000203;GI=SLC26A1,IDUA;FC=Silent,Missense_H33Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,41:41:78.26:1099,78,0:1.000:78 chr4 994414 rs3755955 G A 3462.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.205;DP=309;Dels=0.00;FS=1.913;HRun=0;HaplotypeScore=17.2462;MQ=49.15;MQ0=0;MQRankSum=-0.144;QD=11.20;ReadPosRankSum=0.462;SB=-2361.63;TI=NM_000203;GI=IDUA;FC=Missense_R105Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:155,149:309:99:3462,0,3495:0.490:99 chr4 995305 rs6815946 T C 1799.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.599;DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.8949;MQ=55.74;MQ0=0;MQRankSum=2.559;QD=10.84;ReadPosRankSum=1.489;SB=-1174.60;TI=NM_000203;GI=IDUA;FC=Synonymous_N181N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:85,81:166:99:1829,0,1886:0.488:99 chr4 995919 rs6830825 G C 891.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.792;DP=90;Dels=0.00;FS=0.827;HRun=1;HaplotypeScore=9.9225;MQ=55.95;MQ0=0;MQRankSum=-0.499;QD=9.90;ReadPosRankSum=0.985;SB=-531.83;TI=NM_000203;GI=IDUA;FC=Synonymous_A314A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,40:90:99:921,0,1111:0.455:99 chr4 996165 rs6831280 G A 2254.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.369;DP=207;Dels=0.00;FS=0.525;HRun=0;HaplotypeScore=23.9581;MQ=49.99;MQ0=0;MQRankSum=0.735;QD=10.89;ReadPosRankSum=-1.703;SB=-1364.26;TI=NM_000203;GI=IDUA;FC=Missense_A361T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:104,102:207:99:2284,0,2126:0.495:99 chr4 996248 rs6836258 G C 797.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.716;DP=62;Dels=0.00;FS=11.016;HRun=1;HaplotypeScore=3.8902;MQ=51.37;MQ0=0;MQRankSum=2.453;QD=12.87;ReadPosRankSum=-0.499;SB=-111.88;TI=NM_000203;GI=IDUA;FC=Synonymous_T388T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,28:62:99:828,0,764:0.459:99 chr4 996560 . C G 972.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.944;DP=90;Dels=0.00;FS=6.794;HRun=1;HaplotypeScore=20.7735;MQ=43.74;MQ0=0;MQRankSum=-0.279;QD=10.81;ReadPosRankSum=0.558;SB=-165.74;TI=NM_000203;GI=IDUA;FC=Synonymous_T410T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:53,37:90:99:1003,0,1255:0.411:99 chr4 996690 rs73066479 G A 259.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.011;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3882;MQ=44.82;MQ0=0;MQRankSum=0.000;QD=6.33;ReadPosRankSum=-1.704;SB=-167.37;TI=NM_000203;GI=IDUA;FC=Missense_V454I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,13:41:99:290,0,620:0.325:99 chr4 996888 . C T 1270.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.139;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.9177;MQ=47.49;MQ0=0;MQRankSum=-0.920;QD=10.08;ReadPosRankSum=-0.173;SB=-909.53;TI=NM_000203;GI=IDUA;FC=Synonymous_R489R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:62,64:126:99:1300,0,1252:0.508:99 chr4 3475252 rs4325970 T C 6738.02 PASS AC=2;AF=1.00;AN=2;DP=274;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.7954;MQ=51.54;MQ0=0;QD=24.59;SB=-5001.61;TI=NM_001164673,NM_173660;GI=DOK7,DOK7;FC=Synonymous_L74L,Synonymous_L74L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,273:274:99:6738,473,0:1.000:99 chr4 5564191 rs2287576 A T 8032.46 PASS AC=2;AF=1.00;AN=2;DP=323;Dels=0.00;FS=0.000;HRun=6;HaplotypeScore=10.8345;MQ=51.02;MQ0=0;QD=24.87;SB=-5687.82;TI=NM_147127,NM_001166136;GI=EVC2,EVC2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,323:323:99:8032,560,0:1.000:99 chr4 5570221 rs12511039 G A 9123.17 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.587;DP=346;Dels=0.00;FS=3.022;HRun=0;HaplotypeScore=22.0296;MQ=51.11;MQ0=0;MQRankSum=0.781;QD=26.37;ReadPosRankSum=-1.038;SB=-6319.94;TI=NM_147127,NM_001166136;GI=EVC2,EVC2;FC=Synonymous_H1169H,Synonymous_H1089H;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,342:346:99:9123,597,0:0.994:99 chr4 5710189 rs6820907 G A 1141.14 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.280;DP=96;Dels=0.00;FS=3.993;HRun=1;HaplotypeScore=5.4776;MQ=46.98;MQ0=0;MQRankSum=-0.664;QD=11.89;ReadPosRankSum=1.610;SB=-565.73;TI=NM_147127,NM_001166136;GI=EVC2,EVC2;FC=Missense_L18F,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,50:96:99:1171,0,931:0.521:99 chr4 5710647 rs2013183 A G 2536.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.607;DP=264;Dels=0.00;FS=0.948;HRun=1;HaplotypeScore=15.5403;MQ=51.84;MQ0=0;MQRankSum=1.908;QD=9.61;ReadPosRankSum=-0.642;SB=-1846.71;TI=NM_001166136;GI=EVC2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:145,119:264:99:2566,0,3229:0.451:99 chr4 5711095 rs10000314 G A 304.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.540;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=57.55;MQ0=0;MQRankSum=1.181;QD=9.81;ReadPosRankSum=-0.340;SB=-108.74;TI=NM_001166136;GI=EVC2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,13:31:99:334,0,412:0.419:99 chr4 5743509 rs6446393 C T 22932.77 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.723;DP=783;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=34.7541;MQ=54.49;MQ0=0;MQRankSum=1.634;QD=29.29;ReadPosRankSum=0.702;SB=-12138.30;TI=NM_153717;GI=EVC;FC=Synonymous_L257L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,779:783:99:22933,1688,0:0.999:99 chr4 5743512 rs6414624 T C 23220.22 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.959;DP=791;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=44.9054;MQ=54.14;MQ0=0;MQRankSum=0.156;QD=29.36;ReadPosRankSum=-0.564;SB=-12214.96;TI=NM_153717;GI=EVC;FC=Missense_Y258H;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,788:790:99:23220,1672,0:0.999:99 chr4 5749904 rs4688963 T C 21355.42 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.012;DP=811;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=32.8356;MQ=52.44;MQ0=0;MQRankSum=1.561;QD=26.33;ReadPosRankSum=0.117;SB=-14978.94;TI=NM_153717;GI=EVC;FC=Synonymous_N323N;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:5,803:811:99:21355,1448,0:0.994:99 chr4 5749961 rs4688962 G C 20531.29 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.704;DP=748;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=27.2304;MQ=52.01;MQ0=0;MQRankSum=0.068;QD=27.45;ReadPosRankSum=-0.515;SB=-13072.04;TI=NM_153717;GI=EVC;FC=Synonymous_L342L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,742:748:99:20531,1443,0:0.999:99 chr4 5755542 rs2302075 C A 9998.22 PASS AC=2;AF=1.00;AN=2;DP=398;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=13.5563;MQ=51.53;MQ0=0;QD=25.12;SB=-7262.04;TI=NM_153717;GI=EVC;FC=Missense_T449K;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,398:398:99:9998,704,0:1.000:99 chr4 5785442 rs1383180 G A 4928.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.228;DP=450;Dels=0.00;FS=1.515;HRun=0;HaplotypeScore=11.6463;MQ=49.68;MQ0=0;MQRankSum=0.525;QD=10.95;ReadPosRankSum=-0.674;SB=-3633.50;TI=NM_153717;GI=EVC;FC=Missense_R576Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:228,222:450:99:4929,0,5108:0.493:99 chr4 5795412 rs11737221 C T 2691.41 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.685;DP=253;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.1114;MQ=49.07;MQ0=0;MQRankSum=-1.389;QD=10.64;ReadPosRankSum=-3.307;SB=-1993.11;TI=NM_153717;GI=EVC;FC=Synonymous_G618G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:126,127:253:99:2721,0,2746:0.502:99 chr4 5812778 rs2291151 G A 1337.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.511;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6818;MQ=51.44;MQ0=0;MQRankSum=0.724;QD=8.26;ReadPosRankSum=0.629;SB=-1043.81;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:96,66:162:99:1368,0,2048:0.407:99 chr4 5813354 . T A 19.10 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.112;DP=105;Dels=0.00;FS=16.780;HRun=0;HaplotypeScore=43.8579;MQ=49.17;MQ0=0;MQRankSum=-4.148;QD=0.18;ReadPosRankSum=-1.531;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:92,8:105:49.04:49,0,2245:0.080:19 chr4 5813362 . C G 105.33 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.816;DP=130;Dels=0.00;FS=20.437;HRun=0;HaplotypeScore=45.2376;MQ=47.24;MQ0=0;MQRankSum=-5.094;QD=0.81;ReadPosRankSum=-1.377;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:115,15:130:99:135,0,2853:0.115:99 chr4 5813367 . A G 142.76 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.508;DP=130;Dels=0.00;FS=20.124;HRun=1;HaplotypeScore=33.4714;MQ=47.02;MQ0=0;MQRankSum=-5.554;QD=1.10;ReadPosRankSum=-1.401;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:114,14:130:99:173,0,2809:0.109:99 chr4 5813370 . A G 34.64 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.689;DP=129;Dels=0.00;FS=14.921;HRun=2;HaplotypeScore=32.7117;MQ=46.90;MQ0=0;MQRankSum=-5.660;QD=0.27;ReadPosRankSum=-1.504;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:113,15:129:64.63:65,0,2925:0.117:34 chr4 5813382 . T C 181.57 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.472;DP=153;Dels=0.00;FS=25.620;HRun=1;HaplotypeScore=37.2689;MQ=47.06;MQ0=0;MQRankSum=-5.737;QD=1.19;ReadPosRankSum=-0.428;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:132,20:153:99:212,0,3255:0.132:99 chr4 5813512 rs62297707 T C 34.83 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.024;DP=389;Dels=0.00;FS=68.475;HRun=0;HaplotypeScore=112.6608;MQ=45.42;MQ0=0;MQRankSum=-7.064;QD=0.09;ReadPosRankSum=-0.465;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:354,27:389:64.82:65,0,7757:0.071:34 chr4 5813560 . G T 173.25 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.439;DP=292;Dels=0.00;FS=55.547;HRun=0;HaplotypeScore=129.4212;MQ=45.53;MQ0=5;MQRankSum=-6.913;QD=0.59;ReadPosRankSum=1.528;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:262,29:291:99:203,0,5831:0.100:99 chr4 5813695 rs6840435 T C 3091.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.278;DP=304;Dels=0.00;FS=5.758;HRun=2;HaplotypeScore=60.0246;MQ=46.63;MQ0=4;MQRankSum=0.183;QD=10.17;ReadPosRankSum=1.286;SB=-2106.18;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:145,158:304:99:3122,0,2993:0.521:99 chr4 5813735 rs13121258 C G 370.36 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.794;DP=296;Dels=0.00;FS=13.482;HRun=0;HaplotypeScore=74.5470;MQ=44.51;MQ0=11;MQRankSum=-7.847;QD=1.25;ReadPosRankSum=-3.959;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:257,39:296:99:400,0,5356:0.132:99 chr4 5813759 rs71599846 T A 255.68 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.299;DP=305;Dels=0.00;FS=42.105;HRun=0;HaplotypeScore=98.0249;MQ=44.03;MQ0=12;MQRankSum=-5.966;QD=0.84;ReadPosRankSum=1.057;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:261,36:305:99:286,0,5158:0.121:99 chr4 5813783 rs13147919 A C 580.15 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.357;DP=281;Dels=0.00;FS=28.144;HRun=2;HaplotypeScore=143.6490;MQ=44.85;MQ0=3;MQRankSum=-7.471;QD=2.06;ReadPosRankSum=4.535;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:225,52:280:99:610,0,5076:0.188:99 chr4 5813798 rs62297708 G A 279.26 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-3.139;DP=284;Dels=0.01;FS=21.990;HRun=2;HaplotypeScore=159.7552;MQ=43.95;MQ0=5;MQRankSum=-6.979;QD=0.98;ReadPosRankSum=2.962;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:231,43:281:99:309,0,5045:0.157:99 chr4 5813900 rs71599852 T C 87.76 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-3.730;DP=364;Dels=0.00;FS=5.239;HRun=1;HaplotypeScore=142.0503;MQ=44.63;MQ0=3;MQRankSum=-4.625;QD=0.24;ReadPosRankSum=2.115;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:321,37:363:99:118,0,6832:0.103:87 chr4 5813940 rs13121710 C A 182.96 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.077;DP=376;Dels=0.00;FS=8.882;HRun=0;HaplotypeScore=131.8621;MQ=43.31;MQ0=14;MQRankSum=-9.523;QD=0.49;ReadPosRankSum=-2.895;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:316,53:376:99:213,0,6490:0.144:99 chr4 5813963 . G T 267.44 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.311;DP=342;Dels=0.00;FS=11.931;HRun=0;HaplotypeScore=170.5792;MQ=42.92;MQ0=14;MQRankSum=-9.879;QD=0.78;ReadPosRankSum=-1.117;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:277,62:342:99:297,0,6000:0.183:99 chr4 5813982 rs12501119 C T 2244.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.477;DP=344;Dels=0.00;FS=4.259;HRun=0;HaplotypeScore=163.7884;MQ=42.56;MQ0=17;MQRankSum=2.205;QD=6.53;ReadPosRankSum=-1.618;SB=-1239.39;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:218,122:344:99:2275,0,4025:0.359:99 chr4 5814021 . G T 308.04 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.137;DP=274;Dels=0.00;FS=12.725;HRun=0;HaplotypeScore=115.9029;MQ=45.62;MQ0=7;MQRankSum=-8.338;QD=1.12;ReadPosRankSum=-1.254;SB=-0.01;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:229,41:274:99:338,0,5577:0.152:99 chr4 5814607 rs68037492 CT C 4146.43 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.633;DP=258;FS=0.455;HRun=2;HaplotypeScore=115.3479;MQ=46.30;MQ0=0;MQRankSum=-1.517;QD=16.07;ReadPosRankSum=-0.660;SB=-1854.91;TI=NM_153717;GI=EVC;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:143,115:258:99:4146,0,5234:0.446:99 chr4 5815032 rs4261923 G A 671.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.070;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=54.87;MQ0=0;MQRankSum=-0.210;QD=13.70;ReadPosRankSum=-0.371;SB=-99.60;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:23,26:49:99:701,0,621:0.531:99 chr4 5815181 rs6848370 T C 475.52 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.997;DP=39;Dels=0.00;FS=3.005;HRun=2;HaplotypeScore=2.6548;MQ=52.52;MQ0=0;MQRankSum=-0.014;QD=12.19;ReadPosRankSum=-0.632;SB=-232.15;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,19:39:99:506,0,555:0.487:99 chr4 5815381 rs3733186 G A 3535.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.737;DP=283;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=21.0289;MQ=49.59;MQ0=0;MQRankSum=-1.949;QD=12.49;ReadPosRankSum=-0.252;SB=-2305.18;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:129,154:283:99:3535,0,2802:0.544:99 chr4 5815477 rs3733188 C T 3090.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.237;DP=273;Dels=0.00;FS=0.446;HRun=1;HaplotypeScore=9.8350;MQ=50.61;MQ0=0;MQRankSum=0.916;QD=11.32;ReadPosRankSum=-1.486;SB=-1909.66;TI=NM_153717;GI=EVC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:135,138:273:99:3121,0,3047:0.505:99 chr4 68603535 rs1038426 C A 9164.41 PASS AC=2;AF=1.00;AN=2;DP=343;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=18.1102;MQ=51.39;MQ0=0;QD=26.72;SB=-6172.86;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,340:343:99:9164,650,0:1.000:99 chr4 68603702 rs1038427 C T 4518.83 PASS AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6789;MQ=58.53;MQ0=0;QD=35.58;SB=-1644.03;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,127:127:99:4519,337,0:1.000:99 chr4 68604032 rs7666201 C T 7648.68 PASS AC=2;AF=1.00;AN=2;DP=279;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=14.3779;MQ=49.51;MQ0=0;QD=27.41;SB=-4841.77;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,278:278:99:7649,557,0:1.000:99 chr4 68604166 . TA T 408.68 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.706;DP=152;FS=0.000;HRun=12;HaplotypeScore=302.3758;MQ=53.83;MQ0=0;MQRankSum=-0.305;QD=2.69;ReadPosRankSum=-0.064;SB=-132.89;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:107,29:152:99:448,0,2417:0.213:99 chr4 68605369 rs17635850 A G 5647.97 PASS AC=2;AF=1.00;AN=2;DP=174;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4704;MQ=56.28;MQ0=0;QD=32.46;SB=-1885.87;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,174:174:99:5648,415,0:1.000:99 chr4 68620277 rs2627260 T C 5177.19 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.676;DP=186;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.8459;MQ=50.31;MQ0=1;MQRankSum=-0.159;QD=27.83;ReadPosRankSum=-1.451;SB=-3247.31;TI=NM_000406,NM_001012763;GI=GNRHR,GNRHR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,185:186:99:5177,376,0:0.995:99 chr4 79205699 rs12504081 T A 2557.65 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.669;DP=269;Dels=0.00;FS=2.091;HRun=0;HaplotypeScore=13.7231;MQ=46.02;MQ0=0;MQRankSum=0.849;QD=9.51;ReadPosRankSum=-2.909;SB=-1593.47;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Missense_L466I,Missense_L466I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:148,119:269:99:2588,0,3095:0.446:99 chr4 79238649 rs345514 T C 3949.01 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.319;DP=361;Dels=0.00;FS=1.243;HRun=0;HaplotypeScore=14.8988;MQ=46.38;MQ0=0;MQRankSum=0.468;QD=10.94;ReadPosRankSum=4.197;SB=-2847.22;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Synonymous_H649H,Synonymous_H649H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:180,181:361:99:3949,0,3721:0.501:99 chr4 79240063 rs345513 A G 3337.33 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.325;DP=302;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=15.8468;MQ=47.79;MQ0=0;MQRankSum=0.278;QD=11.05;ReadPosRankSum=-1.229;SB=-2498.21;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Missense_D687G,Missense_D687G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:148,153:302:99:3337,0,3032:0.508:99 chr4 79284694 rs6835769 C T 3715.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.358;DP=306;Dels=0.00;FS=0.418;HRun=0;HaplotypeScore=17.5725;MQ=47.09;MQ0=0;MQRankSum=-0.184;QD=12.14;ReadPosRankSum=-1.070;SB=-2809.98;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Missense_A817V,Missense_A817V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:134,172:306:99:3715,0,2798:0.562:99 chr4 79300993 rs12512164 G A 4618.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.223;DP=440;Dels=0.00;FS=3.037;HRun=2;HaplotypeScore=31.8180;MQ=49.40;MQ0=0;MQRankSum=0.885;QD=10.50;ReadPosRankSum=1.059;SB=-2927.37;TI=NM_001166133,NM_025074;GI=FRAS1,FRAS1;FC=Missense_E1136K,Missense_E1136K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:233,206:440:99:4619,0,5227:0.469:99 chr4 79372930 rs753752 C T 20689.34 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.650;DP=762;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=31.2920;MQ=50.63;MQ0=0;MQRankSum=-0.227;QD=27.15;ReadPosRankSum=-1.127;SB=-13619.03;TI=NM_025074;GI=FRAS1;FC=Synonymous_H2156H;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,761:762:99:20689,1487,0:0.999:99 chr4 79385719 rs6851427 G A 9927.67 PASS AC=2;AF=1.00;AN=2;DP=397;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2675;MQ=48.72;MQ0=0;QD=25.01;SB=-7096.39;TI=NM_025074;GI=FRAS1;FC=Synonymous_A2337A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,397:397:99:9928,692,0:1.000:99 chr4 79387464 rs7684722 A G 9265.18 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.704;DP=376;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=18.2914;MQ=48.48;MQ0=0;MQRankSum=0.571;QD=24.64;ReadPosRankSum=1.539;SB=-6897.28;TI=NM_025074;GI=FRAS1;FC=Missense_K2378E;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,375:376:99:9265,653,0:0.997:99 chr4 79400868 rs11098194 C T 1723.90 PASS AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.15;MQ0=0;QD=30.78;SB=-505.58;TI=NM_025074;GI=FRAS1;FC=Synonymous_D2813D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,56:56:99:1757,129,0:1.000:99 chr4 79432455 rs3749488 A C 1668.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.300;DP=163;Dels=0.00;FS=0.577;HRun=0;HaplotypeScore=11.5814;MQ=47.20;MQ0=0;MQRankSum=-1.691;QD=10.24;ReadPosRankSum=0.984;SB=-1201.83;TI=NM_025074;GI=FRAS1;FC=Synonymous_R3270R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:83,80:163:99:1699,0,1788:0.491:99 chr4 79443850 rs931606 G A 4985.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.968;DP=495;Dels=0.00;FS=1.042;HRun=0;HaplotypeScore=21.8144;MQ=49.60;MQ0=0;MQRankSum=0.098;QD=10.07;ReadPosRankSum=0.388;SB=-3860.76;TI=NM_025074;GI=FRAS1;FC=Missense_V3566I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:254,240:495:99:4985,0,5319:0.486:99 chr4 79455714 rs4975070 C G 5288.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.180;DP=495;Dels=0.00;FS=1.060;HRun=0;HaplotypeScore=11.8129;MQ=50.69;MQ0=0;MQRankSum=1.532;QD=10.68;ReadPosRankSum=-0.873;SB=-3584.98;TI=NM_025074;GI=FRAS1;FC=Synonymous_P3679P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:257,237:495:99:5288,0,5720:0.480:99 chr4 79455733 rs4975139 C T 5620.61 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.758;DP=595;Dels=0.00;FS=0.616;HRun=1;HaplotypeScore=14.3946;MQ=49.23;MQ0=0;MQRankSum=2.363;QD=9.45;ReadPosRankSum=1.663;SB=-4123.38;TI=NM_025074;GI=FRAS1;FC=Synonymous_L3686L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:330,262:595:99:5621,0,7198:0.443:99 chr4 79462560 rs3749485 A T 2119.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.349;DP=189;Dels=0.00;FS=2.525;HRun=1;HaplotypeScore=6.3643;MQ=47.22;MQ0=0;MQRankSum=2.787;QD=11.21;ReadPosRankSum=2.608;SB=-1278.28;TI=NM_025074;GI=FRAS1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:102,87:189:99:2149,0,2133:0.460:99 chr4 79464432 rs3811747 C T 3395.18 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.346;DP=346;Dels=0.00;FS=1.277;HRun=2;HaplotypeScore=24.9389;MQ=47.99;MQ0=0;MQRankSum=1.005;QD=9.81;ReadPosRankSum=1.904;SB=-2622.77;TI=NM_025074;GI=FRAS1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:183,163:346:99:3395,0,3970:0.471:99 chr4 79464767 rs11098227 T C 2646.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.570;DP=243;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1527;MQ=50.12;MQ0=0;MQRankSum=0.003;QD=10.89;ReadPosRankSum=1.198;SB=-1906.63;TI=NM_025074;GI=FRAS1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:122,121:243:99:2677,0,2788:0.498:99 chr4 79464978 rs11098228 G A 4645.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.694;DP=391;Dels=0.00;FS=1.650;HRun=0;HaplotypeScore=10.5412;MQ=49.59;MQ0=0;MQRankSum=0.723;QD=11.88;ReadPosRankSum=-0.469;SB=-3014.13;TI=NM_025074;GI=FRAS1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:190,201:391:99:4645,0,4221:0.514:99 chr4 79465100 . A ATTTT 3721.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.625;DP=128;FS=0.683;HRun=2;HaplotypeScore=123.0905;MQ=55.82;MQ0=0;MQRankSum=0.224;QD=29.07;ReadPosRankSum=1.283;SB=-1465.52;TI=NM_025074;GI=FRAS1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:64,56:128:99:3721,0,3856:0.467:99 chr4 80822981 rs4331719 G C 4486.95 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.201;DP=364;Dels=0.00;FS=5.434;HRun=0;HaplotypeScore=18.0093;MQ=46.35;MQ0=0;MQRankSum=-0.404;QD=12.33;ReadPosRankSum=1.451;SB=-3210.26;TI=NM_058172;GI=ANTXR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:156,207:364:99:4487,0,3302:0.570:99 chr4 80823880 rs71662883 A AT 2830.47 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.009;DP=209;FS=0.678;HRun=12;HaplotypeScore=339.2463;MQ=54.23;MQ0=0;MQRankSum=4.309;QD=13.54;ReadPosRankSum=-2.298;SB=-1210.26;TI=NM_058172;GI=ANTXR2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:54,124:209:99:2870,0,571:0.697:99 chr4 80824504 . TTCTC T 1680.44 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-3.901;DP=72;FS=2.440;HRun=0;HaplotypeScore=156.8096;MQ=58.06;MQ0=0;MQRankSum=2.484;QD=23.34;ReadPosRankSum=-1.641;SB=-627.33;TI=NM_058172;GI=ANTXR2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,28:72:99:1719,0,767:0.406:99 chr4 80824888 rs4611863 A G 9835.73 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.670;DP=391;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=39.4350;MQ=48.96;MQ0=0;MQRankSum=1.696;QD=25.16;ReadPosRankSum=-0.062;SB=-6994.01;TI=NM_058172;GI=ANTXR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,387:391:99:9836,698,0:0.997:99 chr4 80825270 rs11292255 TA T 3317.11 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-3.762;DP=167;FS=1.220;HRun=3;HaplotypeScore=161.8108;MQ=53.32;MQ0=0;MQRankSum=0.565;QD=19.86;ReadPosRankSum=-0.986;SB=-1507.91;TI=NM_058172;GI=ANTXR2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:74,93:167:99:3317,0,2393:0.557:99 chr4 80826912 rs2760 A C 2229.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.097;DP=183;Dels=0.00;FS=1.850;HRun=1;HaplotypeScore=4.4704;MQ=47.82;MQ0=0;MQRankSum=0.697;QD=12.18;ReadPosRankSum=0.884;SB=-1625.04;TI=NM_058172;GI=ANTXR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:83,100:183:99:2260,0,1886:0.546:99 chr4 80827062 rs7747 T C 3022.79 PASS AC=2;AF=1.00;AN=2;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=57.13;MQ0=0;QD=29.93;SB=-1790.04;TI=NM_058172;GI=ANTXR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,101:101:99:3056,223,0:1.000:99 chr4 80827798 rs63539261 A G 3339.75 PASS AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4599;MQ=56.45;MQ0=0;QD=31.51;SB=-1741.56;TI=NM_058172;GI=ANTXR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,106:106:99:3340,250,0:1.000:99 chr4 80827799 rs72653260 A C 3575.65 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.640;DP=114;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4599;MQ=56.01;MQ0=0;MQRankSum=1.701;QD=31.37;ReadPosRankSum=-1.518;SB=-1928.45;TI=NM_058172;GI=ANTXR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,112:114:99:3576,268,0:0.991:99 chr4 80828247 rs4690108 G A 2074.78 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.861;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7855;MQ=55.66;MQ0=0;MQRankSum=-1.176;QD=12.81;ReadPosRankSum=-0.918;SB=-968.52;TI=NM_058172;GI=ANTXR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:83,79:162:99:2105,0,2099:0.488:99 chr4 80905990 rs12647691 C G 13167.03 PASS AC=2;AF=1.00;AN=2;DP=510;Dels=0.05;FS=0.000;HRun=4;HaplotypeScore=86.0737;MQ=50.31;MQ0=0;QD=25.82;SB=-7284.05;TI=NM_058172,NM_001145794;GI=ANTXR2,ANTXR2;FC=Missense_A357P,Missense_A357P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,485:486:99:13167,978,0:1.000:99 chr4 84191031 rs6535454 A G 18070.09 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.349;DP=600;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=34.8066;MQ=52.41;MQ0=0;MQRankSum=1.074;QD=30.12;ReadPosRankSum=1.173;SB=-8407.09;TI=NM_015697;GI=COQ2;FC=Synonymous_D298D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,597:600:99:18070,1295,0:0.997:99 chr4 84205872 rs6818847 C A 2374.96 PASS AC=2;AF=1.00;AN=2;DP=88;Dels=0.02;FS=0.000;HRun=1;HaplotypeScore=32.9837;MQ=46.55;MQ0=0;QD=26.99;SB=-881.04;TI=NM_015697;GI=COQ2;FC=Missense_V66L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,86:86:99:2408,175,0:1.000:99 chr4 88584148 rs2615498 C T 6623.38 PASS AC=2;AF=1.00;AN=2;DP=264;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.5939;MQ=47.90;MQ0=0;QD=25.09;SB=-5070.82;TI=NM_001079911,NM_004407;GI=DMP1,DMP1;FC=Synonymous_S390S,Synonymous_S406S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,264:264:99:6623,467,0:1.000:99 chr4 88584160 rs2615497 G A 5818.03 PASS AC=2;AF=1.00;AN=2;DP=234;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=14.9078;MQ=49.06;MQ0=0;QD=24.86;SB=-4108.06;TI=NM_001079911,NM_004407;GI=DMP1,DMP1;FC=Synonymous_E394E,Synonymous_E410E;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,234:234:99:5818,412,0:1.000:99 chr4 88584507 rs2627724 G A 7258.15 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.676;DP=249;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=9.8076;MQ=54.86;MQ0=0;MQRankSum=1.649;QD=29.15;ReadPosRankSum=1.356;SB=-4008.60;TI=NM_001079911,NM_004407;GI=DMP1,DMP1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,248:249:99:7258,527,0:0.996:99 chr4 88585079 rs2627725 A G 9734.15 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.103;DP=379;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=24.6571;MQ=47.88;MQ0=0;MQRankSum=0.693;QD=25.68;ReadPosRankSum=-0.973;SB=-5761.13;TI=NM_001079911,NM_004407;GI=DMP1,DMP1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,375:379:99:9734,670,0:0.995:99 chr4 88585217 . ATTT AT,A 3351.37 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-1.966;DP=117;FS=0.000;HaplotypeScore=342.2087;MQ=54.91;MQ0=0;MQRankSum=1.153;QD=28.64;ReadPosRankSum=-1.988;SB=-1088.41;TI=NM_001079911,NM_004407;GI=DMP1,DMP1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:13,1,18:117:99:3351,484,222,1995,0,1946:0.594:99 chr4 108931039 rs4956145 T C 15747.38 PASS AC=2;AF=1.00;AN=2;DP=612;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=32.7782;MQ=48.24;MQ0=0;QD=25.73;SB=-11069.04;TI=NM_001184705,NM_005327;GI=HADH,HADH;FC=Missense_L86P,Missense_L86P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,612:612:99:15747,1147,0:1.000:99 chr4 119237348 rs2292597 T C 3159.86 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.792;DP=349;Dels=0.00;FS=2.873;HRun=0;HaplotypeScore=15.7227;MQ=50.14;MQ0=0;MQRankSum=-0.912;QD=9.05;ReadPosRankSum=0.803;SB=-2456.98;TI=NM_003619;GI=PRSS12;FC=Synonymous_Q427Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:188,161:349:99:3190,0,4069:0.461:99 chr4 119273712 rs13119545 C G 632.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.966;DP=60;Dels=0.00;FS=1.059;HRun=0;HaplotypeScore=2.6971;MQ=55.33;MQ0=0;MQRankSum=1.545;QD=10.54;ReadPosRankSum=1.308;SB=-256.70;TI=NM_003619;GI=PRSS12;FC=Missense_R55T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,27:60:99:663,0,768:0.450:99 chr4 128840270 rs74590222 A T 1813.84 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.317;DP=160;Dels=0.00;FS=4.685;HRun=1;HaplotypeScore=4.5737;MQ=57.36;MQ0=0;MQRankSum=-0.152;QD=11.34;ReadPosRankSum=1.963;SB=-1127.10;TI=NM_152778;GI=MFSD8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:84,76:160:99:1844,0,2073:0.475:99 chr4 146579194 rs7699187 T C 4577.31 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.638;DP=184;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4427;MQ=49.08;MQ0=0;MQRankSum=0.358;QD=24.88;ReadPosRankSum=-0.546;SB=-3131.49;TI=NM_172250;GI=MMAA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,183:184:99:4577,322,0:0.995:99 chr4 146579354 rs7699166 A T 6211.45 PASS AC=2;AF=1.00;AN=2;DP=253;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5726;MQ=46.70;MQ0=0;QD=24.55;SB=-4398.44;TI=NM_172250;GI=MMAA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,253:253:99:6211,433,0:1.000:99 chr4 146579452 rs17020500 A G 4076.11 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.619;DP=148;Dels=0.00;FS=9.239;HRun=0;HaplotypeScore=18.2533;MQ=55.54;MQ0=0;MQRankSum=2.517;QD=27.54;ReadPosRankSum=1.456;SB=-1818.51;TI=NM_172250;GI=MMAA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,145:148:99:4076,228,0:0.980:99 chr4 146579843 . CAA C 256.88 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.875;DP=63;FS=0.000;HRun=17;HaplotypeScore=245.6801;MQ=49.54;MQ0=0;MQRankSum=-0.508;QD=4.08;ReadPosRankSum=-0.940;SB=-146.75;TI=NM_172250;GI=MMAA;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,11:63:99:296,0,497:0.289:99 chr4 155507438 . A T 79.61 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.405;DP=148;Dels=0.00;FS=21.496;HRun=1;HaplotypeScore=12.7271;MQ=51.67;MQ0=0;MQRankSum=-6.326;QD=0.54;ReadPosRankSum=-1.078;SB=-0.01;TI=NM_000508,NM_021871;GI=FGA,FGA;FC=Synonymous_G381G,Synonymous_G381G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:132,15:148:99:110,0,3598:0.102:79 chr4 155507443 . A T 138.96 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-3.196;DP=142;Dels=0.00;FS=34.085;HRun=1;HaplotypeScore=14.5089;MQ=51.89;MQ0=0;MQRankSum=-6.182;QD=0.98;ReadPosRankSum=-0.274;SB=-0.01;TI=NM_000508,NM_021871;GI=FGA,FGA;FC=Missense_S380T,Missense_S380T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:123,17:142:99:169,0,3453:0.121:99 chr4 155507445 . A C 117.18 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.685;DP=138;Dels=0.00;FS=33.991;HRun=1;HaplotypeScore=18.2915;MQ=52.14;MQ0=0;MQRankSum=-5.470;QD=0.85;ReadPosRankSum=-0.024;SB=-0.01;TI=NM_000508,NM_021871;GI=FGA,FGA;FC=Missense_V379G,Missense_V379G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:122,15:138:99:147,0,3450:0.109:99 chr4 155507454 . T C 124.42 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.723;DP=140;Dels=0.00;FS=26.962;HRun=1;HaplotypeScore=16.3991;MQ=52.34;MQ0=0;MQRankSum=-6.033;QD=0.89;ReadPosRankSum=1.141;SB=-0.01;TI=NM_000508,NM_021871;GI=FGA,FGA;FC=Missense_E376G,Missense_E376G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:122,17:140:99:154,0,3364:0.122:99 chr4 155507460 . G T 72.03 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.427;DP=144;Dels=0.00;FS=24.661;HRun=1;HaplotypeScore=15.5011;MQ=52.20;MQ0=0;MQRankSum=-6.430;QD=0.50;ReadPosRankSum=0.620;SB=-0.01;TI=NM_000508,NM_021871;GI=FGA,FGA;FC=Missense_T374N,Missense_T374N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:128,16:144:99:102,0,3458:0.111:72 chr4 155507467 . G T 49.55 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.191;DP=152;Dels=0.00;FS=24.224;HRun=1;HaplotypeScore=20.4037;MQ=51.98;MQ0=0;MQRankSum=-6.111;QD=0.33;ReadPosRankSum=1.504;SB=-0.01;TI=NM_000508,NM_021871;GI=FGA,FGA;FC=Missense_H372N,Missense_H372N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:137,14:152:79.54:80,0,3626:0.093:49 chr4 155507468 . C T 57.75 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.271;DP=155;Dels=0.00;FS=14.962;HRun=0;HaplotypeScore=19.5097;MQ=51.69;MQ0=0;MQRankSum=-5.877;QD=0.37;ReadPosRankSum=1.306;SB=-0.01;TI=NM_000508,NM_021871;GI=FGA,FGA;FC=Synonymous_G371G,Synonymous_G371G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:138,16:155:87.75:88,0,3771:0.104:57 chr4 155507590 rs6050 T C 4211.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.276;DP=370;Dels=0.00;FS=2.346;HRun=0;HaplotypeScore=67.5008;MQ=47.37;MQ0=0;MQRankSum=-0.310;QD=11.38;ReadPosRankSum=-1.492;SB=-2585.70;TI=NM_000508,NM_021871;GI=FGA,FGA;FC=Missense_T331A,Missense_T331A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:167,200:370:99:4211,0,3582:0.545:99 chr4 155511824 rs2070025 T C 3166.80 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.321;DP=341;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=21.9865;MQ=51.27;MQ0=0;MQRankSum=0.990;QD=9.29;ReadPosRankSum=-0.867;SB=-2497.32;TI=NM_000508,NM_021871;GI=FGA,FGA;FC=Missense_I6V,Missense_I6V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:178,158:341:99:3197,0,3778:0.470:99 chr4 155511897 rs2070011 T C 4418.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.178;DP=440;Dels=0.00;FS=0.720;HRun=1;HaplotypeScore=25.8007;MQ=46.52;MQ0=0;MQRankSum=-2.204;QD=10.04;ReadPosRankSum=-0.771;SB=-3122.97;TI=NM_000508,NM_021871;GI=FGA,FGA;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:230,209:440:99:4419,0,4908:0.476:99 chr4 159601676 rs11559290 C T 22968.87 PASS AC=2;AF=1.00;AN=2;DP=851;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=33.5350;MQ=50.96;MQ0=0;QD=26.99;SB=-15635.47;TI=NM_004453;GI=ETFDH;FC=Missense_T31I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,849:851:99:22969,1640,0:1.000:99 chr4 187004074 rs3775291 C T 2411.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.787;DP=244;Dels=0.00;FS=2.193;HRun=1;HaplotypeScore=14.0149;MQ=48.90;MQ0=0;MQRankSum=-2.108;QD=9.88;ReadPosRankSum=0.701;SB=-1656.56;TI=NM_003265;GI=TLR3;FC=Missense_L412F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:134,110:244:99:2442,0,3396:0.451:99 chr4 187004135 . A G 2978.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.877;DP=269;Dels=0.00;FS=2.706;HRun=0;HaplotypeScore=17.8754;MQ=48.24;MQ0=0;MQRankSum=0.098;QD=11.07;ReadPosRankSum=1.453;SB=-1891.59;TI=NM_003265;GI=TLR3;FC=Missense_H432R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:135,133:269:99:3008,0,3208:0.496:99 chr5 6599940 rs3776448 C T 1014.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.696;DP=75;Dels=0.00;FS=0.913;HRun=0;HaplotypeScore=4.7584;MQ=56.50;MQ0=0;MQRankSum=0.186;QD=13.52;ReadPosRankSum=-0.186;SB=-498.60;TI=NM_017755,NM_001193455;GI=NSUN2,NSUN2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,40:75:99:1044,0,997:0.533:99 chr5 6600150 rs3822434 G A 1250.85 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.073;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2478;MQ=52.28;MQ0=0;MQRankSum=1.030;QD=10.78;ReadPosRankSum=0.182;SB=-647.89;TI=NM_017755,NM_001193455;GI=NSUN2,NSUN2;FC=Synonymous_D731D,Synonymous_D696D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:62,53:116:99:1281,0,1511:0.461:99 chr5 6633042 rs10062086 C T 3050.67 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.175;DP=234;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.4473;MQ=46.72;MQ0=0;MQRankSum=-0.561;QD=13.04;ReadPosRankSum=2.081;SB=-1988.56;TI=NM_017755,NM_001193455;GI=NSUN2,NSUN2;FC=Synonymous_E17E,Synonymous_E17E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:105,129:234:99:3081,0,2345:0.551:99 chr5 6633222 rs4702373 C T 6192.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.128;DP=481;Dels=0.00;FS=1.500;HRun=3;HaplotypeScore=35.9598;MQ=51.41;MQ0=0;MQRankSum=4.987;QD=12.87;ReadPosRankSum=0.966;SB=-3774.76;TI=NM_017755,NM_001193455;GI=NSUN2,NSUN2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:217,263:481:99:6192,0,4948:0.548:99 chr5 6633307 . TA T 10749.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.889;DP=613;FS=8.421;HRun=2;HaplotypeScore=785.8675;MQ=51.54;MQ0=0;MQRankSum=3.294;QD=17.54;ReadPosRankSum=1.832;SB=-4639.00;TI=NM_017755,NM_001193455;GI=NSUN2,NSUN2;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:306,306:613:99:10749,0,10760:0.500:99 chr5 33988535 rs15612 C T 3029.84 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.058;DP=278;Dels=0.00;FS=2.026;HRun=0;HaplotypeScore=17.5965;MQ=52.80;MQ0=0;MQRankSum=1.171;QD=10.90;ReadPosRankSum=-1.134;SB=-2004.93;TI=NM_014324,NM_001167595,NM_203382;GI=AMACR,AMACR,AMACR;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:148,129:278:99:3060,0,3497:0.466:99 chr5 33989518 rs2278008 C T 8946.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.731;DP=841;Dels=0.00;FS=2.031;HRun=1;HaplotypeScore=39.1794;MQ=51.50;MQ0=0;MQRankSum=3.120;QD=10.64;ReadPosRankSum=0.790;SB=-6352.54;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 0/1:440,400:841:99:8946,0,10025:0.476:99 chr5 33998768 rs34677 C A 4274.97 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.051;DP=363;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=20.1002;MQ=51.53;MQ0=0;MQRankSum=0.480;QD=11.78;ReadPosRankSum=2.633;SB=-2916.47;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 0/1:176,186:363:99:4275,0,4158:0.514:99 chr5 33998883 rs2287939 A G 6596.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.581;DP=510;Dels=0.00;FS=1.899;HRun=0;HaplotypeScore=40.1750;MQ=51.09;MQ0=0;MQRankSum=3.529;QD=12.93;ReadPosRankSum=-0.195;SB=-3224.30;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 0/1:248,261:509:99:6596,0,5600:0.513:99 chr5 38475507 rs1046224 G A 1530.55 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.608;DP=149;Dels=0.00;FS=2.095;HRun=1;HaplotypeScore=6.3643;MQ=54.13;MQ0=0;MQRankSum=0.751;QD=10.27;ReadPosRankSum=0.170;SB=-1024.21;TI=NM_001127671,NM_002310;GI=LIFR,LIFR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:83,66:149:99:1561,0,2106:0.443:99 chr5 38476027 rs3822425 T C 4344.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.472;DP=392;Dels=0.00;FS=3.833;HRun=0;HaplotypeScore=26.2225;MQ=50.11;MQ0=0;MQRankSum=2.996;QD=11.08;ReadPosRankSum=2.740;SB=-2875.30;TI=NM_001127671,NM_002310;GI=LIFR,LIFR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:199,192:392:99:4344,0,4356:0.491:99 chr5 38476624 rs34579169 C CT 541.49 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.169;DP=117;FS=0.000;HRun=12;HaplotypeScore=366.7677;MQ=52.14;MQ0=0;MQRankSum=1.906;QD=4.63;ReadPosRankSum=-0.080;SB=-233.91;TI=NM_001127671,NM_002310;GI=LIFR,LIFR;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:71,32:117:99:581,0,1424:0.311:99 chr5 38477863 rs34130318 G C 2782.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.509;DP=196;Dels=0.00;FS=4.277;HRun=0;HaplotypeScore=8.3570;MQ=54.75;MQ0=0;MQRankSum=2.055;QD=14.20;ReadPosRankSum=-0.994;SB=-1484.83;TI=NM_001127671,NM_002310;GI=LIFR,LIFR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:93,103:196:99:2812,0,2396:0.526:99 chr5 38480227 rs13156520 A C 2173.78 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.479;DP=142;Dels=0.00;FS=7.638;HRun=1;HaplotypeScore=16.4948;MQ=57.73;MQ0=0;MQRankSum=-0.184;QD=15.31;ReadPosRankSum=1.827;SB=-1059.31;TI=NM_001127671,NM_002310;GI=LIFR,LIFR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:67,75:142:99:2204,0,1788:0.528:99 chr5 38481335 rs1005017 C T 3636.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.122;DP=316;Dels=0.00;FS=6.879;HRun=0;HaplotypeScore=9.8350;MQ=49.68;MQ0=0;MQRankSum=2.421;QD=11.51;ReadPosRankSum=0.682;SB=-2253.93;TI=NM_001127671,NM_002310;GI=LIFR,LIFR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:165,151:316:99:3637,0,3902:0.478:99 chr5 52856504 rs2279516 G C 4061.97 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.994;DP=336;Dels=0.00;FS=0.402;HRun=0;HaplotypeScore=19.5031;MQ=52.27;MQ0=0;MQRankSum=2.874;QD=12.09;ReadPosRankSum=0.641;SB=-2267.98;TI=NM_002495;GI=NDUFS4;FC=Synonymous_V4V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:171,163:336:99:4062,0,4441:0.488:99 chr5 52942083 rs31304 A C 10135.44 PASS AC=2;AF=1.00;AN=2;DP=388;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=22.0536;MQ=50.25;MQ0=0;QD=26.12;SB=-6391.81;TI=NM_002495;GI=NDUFS4;FC=Synonymous_G66G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,386:388:99:10135,725,0:1.000:99 chr5 52942197 rs31303 A G 5240.18 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.157;DP=435;Dels=0.00;FS=2.512;HRun=1;HaplotypeScore=22.0060;MQ=51.82;MQ0=0;MQRankSum=4.122;QD=12.05;ReadPosRankSum=1.534;SB=-3478.39;TI=NM_002495;GI=NDUFS4;FC=Synonymous_R104R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:210,224:435:99:5240,0,4686:0.516:99 chr5 52979097 rs567 G A 7119.87 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.421;DP=631;Dels=0.00;FS=1.620;HRun=0;HaplotypeScore=32.0415;MQ=51.50;MQ0=0;MQRankSum=0.730;QD=11.28;ReadPosRankSum=0.551;SB=-4957.62;TI=NM_002495;GI=NDUFS4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:312,317:631:99:7120,0,7287:0.504:99 chr5 60240986 rs158922 A G 5531.77 PASS AC=2;AF=1.00;AN=2;DP=210;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=19.2560;MQ=51.28;MQ0=0;QD=26.34;SB=-3543.92;TI=NM_174889;GI=NDUFAF2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,209:210:99:5532,394,0:1.000:99 chr5 60241142 rs158921;rs79660491 G A 5685.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.491;DP=320;Dels=0.00;FS=4.698;HRun=2;HaplotypeScore=18.1261;MQ=42.49;MQ0=52;MQRankSum=7.764;QD=17.77;ReadPosRankSum=1.778;SB=-3343.85;TI=NM_174889;GI=NDUFAF2;FC=Synonymous_K20K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:65,255:320:99:5685,0,211:0.797:99 chr5 73981270 rs820878 T C 8719.10 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.702;DP=350;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=26.0884;MQ=49.83;MQ0=0;MQRankSum=1.672;QD=24.91;ReadPosRankSum=1.463;SB=-6651.00;TI=NM_000521;GI=HEXB;FC=Missense_L62S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,347:350:99:8719,614,0:0.997:99 chr5 73992881 rs10805890 A G 10513.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.278;DP=870;Dels=0.00;FS=0.780;HRun=1;HaplotypeScore=40.0446;MQ=53.40;MQ0=0;MQRankSum=3.034;QD=12.08;ReadPosRankSum=-0.304;SB=-6005.21;TI=NM_000521;GI=HEXB;FC=Missense_I207V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:428,440:870:99:10513,0,10170:0.507:99 chr5 77298619 rs11552314 A T 8669.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.676;DP=778;Dels=0.00;FS=2.869;HRun=1;HaplotypeScore=49.6600;MQ=50.26;MQ0=0;MQRankSum=-1.911;QD=11.14;ReadPosRankSum=1.623;SB=-6091.07;TI=NM_003664;GI=AP3B1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:391,386:778:99:8669,0,8835:0.497:99 chr5 77425028 rs6453373 A T 8626.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.547;DP=756;Dels=0.00;FS=3.325;HRun=3;HaplotypeScore=38.3453;MQ=49.52;MQ0=0;MQRankSum=1.400;QD=11.41;ReadPosRankSum=3.659;SB=-6284.97;TI=NM_003664;GI=AP3B1;FC=Missense_V585E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:373,383:756:99:8626,0,8319:0.507:99 chr5 78073245 rs3088247 C A 2402.12 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.954;DP=156;Dels=0.00;FS=2.889;HRun=0;HaplotypeScore=5.5410;MQ=54.32;MQ0=0;MQRankSum=1.704;QD=15.40;ReadPosRankSum=1.353;SB=-1184.27;TI=NM_000046;GI=ARSB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:67,89:156:99:2432,0,1604:0.571:99 chr5 78073674 . C CAA 158.11 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.085;DP=51;FS=0.000;HRun=20;HaplotypeScore=394.2183;MQ=38.74;MQ0=0;MQRankSum=-1.033;QD=3.10;ReadPosRankSum=-1.503;SB=-20.89;TI=NM_000046;GI=ARSB;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,6:51:99:197,0,423:0.188:99 chr5 78073702 rs78238742 G A 51.25 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-3.887;DP=47;Dels=0.00;FS=5.170;HRun=3;HaplotypeScore=50.3238;MQ=38.70;MQ0=0;MQRankSum=-1.337;QD=1.09;ReadPosRankSum=0.842;SB=-0.01;TI=NM_000046;GI=ARSB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,15:47:81.24:81,0,761:0.341:51 chr5 78181477 rs1065757 C T 4038.41 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.598;DP=386;Dels=0.00;FS=1.209;HRun=0;HaplotypeScore=30.4469;MQ=46.26;MQ0=0;MQRankSum=-3.338;QD=10.46;ReadPosRankSum=0.386;SB=-3027.94;TI=NM_000046,NM_198709;GI=ARSB,ARSB;FC=Missense_V358M,Missense_V358M;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:194,191:386:99:4038,0,4153:0.496:99 chr5 78281373 rs163127 T C 14721.64 PASS AC=2;AF=1.00;AN=2;DP=560;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=251.4130;MQ=54.79;MQ0=0;QD=26.29;SB=-9410.28;TI=NM_000046,NM_198709;GI=ARSB,ARSB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,560:560:99:14722,1056,0:1.000:99 chr5 89943571 rs2366777 G T 7829.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=5.417;DP=706;Dels=0.00;FS=3.078;HRun=2;HaplotypeScore=43.9215;MQ=50.50;MQ0=0;MQRankSum=2.500;QD=11.09;ReadPosRankSum=0.721;SB=-5406.34;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_L1093F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:361,345:706:99:7829,0,8174:0.489:99 chr5 89947434 rs80069610 A G 7924.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.613;DP=708;Dels=0.00;FS=3.606;HRun=0;HaplotypeScore=13.9199;MQ=52.82;MQ0=0;MQRankSum=5.709;QD=11.19;ReadPosRankSum=0.486;SB=-3741.36;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Synonymous_V1101V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:390,318:708:99:7924,0,9681:0.449:99 chr5 89979589 rs4916684 G A 4554.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.362;DP=373;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=32.0641;MQ=51.33;MQ0=0;MQRankSum=2.419;QD=12.21;ReadPosRankSum=0.085;SB=-2690.42;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_V1951I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:188,184:373:99:4554,0,4342:0.495:99 chr5 89979698 rs4916685 C T 7628.15 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.728;DP=638;Dels=0.00;FS=2.393;HRun=1;HaplotypeScore=29.3350;MQ=49.87;MQ0=0;MQRankSum=-0.782;QD=11.96;ReadPosRankSum=-0.048;SB=-5251.92;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_P1987L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:315,321:637:99:7628,0,7059:0.505:99 chr5 89985882 rs10037067 A G 3124.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.998;DP=271;Dels=0.00;FS=2.730;HRun=0;HaplotypeScore=16.5178;MQ=51.72;MQ0=0;MQRankSum=-0.649;QD=11.53;ReadPosRankSum=0.220;SB=-2047.31;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_Y2232C;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:130,141:271:99:3154,0,3027:0.520:99 chr5 89988504 rs2366926 A G 5409.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.259;DP=541;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=33.0273;MQ=50.45;MQ0=0;MQRankSum=2.440;QD=10.00;ReadPosRankSum=1.486;SB=-3319.37;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_N2345S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:308,233:541:99:5410,0,7175:0.431:99 chr5 89989779 rs16876822 G A 2418.16 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.598;DP=234;Dels=0.00;FS=2.945;HRun=1;HaplotypeScore=11.8797;MQ=50.98;MQ0=0;MQRankSum=0.005;QD=10.33;ReadPosRankSum=-1.083;SB=-1689.18;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Synonymous_E2402E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:121,112:234:99:2448,0,2677:0.481:99 chr5 89990324 rs1878878 A G 953.23 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.308;DP=67;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5188;MQ=57.60;MQ0=0;MQRankSum=0.358;QD=14.23;ReadPosRankSum=-0.308;SB=-461.63;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_N2584S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,36:67:99:983,0,870:0.537:99 chr5 90020923 rs16869042 T G 8940.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.280;DP=727;Dels=0.00;FS=0.267;HRun=0;HaplotypeScore=34.6490;MQ=52.99;MQ0=0;MQRankSum=3.626;QD=12.30;ReadPosRankSum=1.755;SB=-5267.23;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Synonymous_P3309P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:370,356:727:99:8940,0,9372:0.490:99 chr5 90024735 rs2366928 G A 2372.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.638;DP=276;Dels=0.00;FS=0.960;HRun=4;HaplotypeScore=16.4405;MQ=50.85;MQ0=0;MQRankSum=0.733;QD=8.60;ReadPosRankSum=1.670;SB=-1547.09;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_E3471K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:164,112:276:99:2403,0,3821:0.406:99 chr5 90052289 rs10062026 G A 3719.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.064;DP=328;Dels=0.00;FS=0.848;HRun=1;HaplotypeScore=15.2674;MQ=53.52;MQ0=0;MQRankSum=2.752;QD=11.34;ReadPosRankSum=1.058;SB=-2482.84;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_E3867K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:168,160:328:99:3720,0,3782:0.488:99 chr5 90052372 rs2438349 C T 4307.41 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.176;DP=415;Dels=0.00;FS=1.161;HRun=0;HaplotypeScore=19.3010;MQ=48.41;MQ0=0;MQRankSum=-1.737;QD=10.38;ReadPosRankSum=-1.298;SB=-2998.18;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Synonymous_P3894P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:215,198:415:99:4307,0,4489:0.479:99 chr5 90087161 rs79464236 C G 2294.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.404;DP=172;Dels=0.00;FS=4.716;HRun=0;HaplotypeScore=7.1527;MQ=52.95;MQ0=0;MQRankSum=0.614;QD=13.34;ReadPosRankSum=-0.794;SB=-1259.17;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_Q4839E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:76,95:172:99:2325,0,1986:0.556:99 chr5 90107108 rs2438374 A G 3556.50 PASS AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6823;MQ=49.89;MQ0=0;QD=25.59;SB=-2462.06;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_E5344G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,139:139:99:3556,253,0:1.000:99 chr5 90119293 rs3763073 C T 6435.47 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.543;DP=623;Dels=0.00;FS=0.290;HRun=1;HaplotypeScore=27.4097;MQ=50.76;MQ0=0;MQRankSum=0.127;QD=10.33;ReadPosRankSum=-2.067;SB=-4616.33;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Synonymous_V5416V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:325,297:623:99:6435,0,7559:0.477:99 chr5 90119324 rs2438378 G A 14741.17 PASS AC=2;AF=1.00;AN=2;DP=557;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=21.8366;MQ=51.60;MQ0=0;QD=26.47;SB=-10413.16;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_V5427M;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,557:557:99:14741,1053,0:1.000:99 chr5 90151589 rs2247870 G A 7132.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.744;DP=671;Dels=0.00;FS=3.667;HRun=0;HaplotypeScore=21.4786;MQ=50.60;MQ0=0;MQRankSum=3.439;QD=10.63;ReadPosRankSum=1.706;SB=-3916.12;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Missense_V5876I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:366,305:671:99:7133,0,8436:0.455:99 chr5 90449154 rs13158963 G A 2881.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.503;DP=290;Dels=0.00;FS=0.905;HRun=0;HaplotypeScore=14.3272;MQ=50.45;MQ0=0;MQRankSum=1.483;QD=9.94;ReadPosRankSum=2.050;SB=-2003.70;TI=NR_003149,NM_032119;GI=GPR98,GPR98;FC=Silent,Synonymous_G6247G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:162,128:290:99:2912,0,3548:0.441:99 chr5 125878954 rs5871218 CA C 4807.52 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=6.435;DP=352;FS=0.815;HRun=8;HaplotypeScore=968.3743;MQ=52.54;MQ0=0;MQRankSum=3.853;QD=13.66;ReadPosRankSum=0.130;SB=-2313.98;TI=NM_001182;GI=ALDH7A1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:179,173:352:99:4808,0,4467:0.491:99 chr5 125879549 rs1483780 C T 1251.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.987;DP=111;Dels=0.00;FS=11.537;HRun=0;HaplotypeScore=11.2262;MQ=51.14;MQ0=0;MQRankSum=1.084;QD=11.27;ReadPosRankSum=-0.168;SB=-358.46;TI=NM_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:59,52:111:99:1281,0,1230:0.468:99 chr5 125879656 . C CT 16.71 R8;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.174;DP=15;FS=0.000;HRun=20;HaplotypeScore=226.8047;MQ=43.79;MQ0=0;MQRankSum=-0.289;QD=1.11;ReadPosRankSum=-2.257;SB=-12.60;TI=NM_001182;GI=ALDH7A1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,5:15:55.64:56,0,64:0.455:16 chr5 125879839 rs1138005 C T 432.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.719;DP=31;Dels=0.00;FS=1.451;HRun=0;HaplotypeScore=8.5811;MQ=55.53;MQ0=0;MQRankSum=0.573;QD=13.95;ReadPosRankSum=1.048;SB=-148.61;TI=NM_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,16:31:99:462,0,345:0.516:99 chr5 125879850 rs1807 G C 440.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.491;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55.48;MQ0=0;MQRankSum=-0.347;QD=12.95;ReadPosRankSum=-2.150;SB=-201.77;TI=NM_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,19:34:99:470,0,420:0.559:99 chr5 125879931 rs1060857 G A 1821.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.845;DP=164;Dels=0.00;FS=1.238;HRun=0;HaplotypeScore=5.5758;MQ=48.95;MQ0=0;MQRankSum=-2.049;QD=11.11;ReadPosRankSum=1.908;SB=-1178.51;TI=NM_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:81,83:164:99:1851,0,1831:0.506:99 chr5 125879981 rs7447380 G A 4414.68 PASS AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=49.77;MQ0=0;QD=27.77;SB=-2422.86;TI=NM_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,159:159:99:4415,313,0:1.000:99 chr5 125880109 rs1060856 G A 2484.16 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.091;DP=253;Dels=0.00;FS=1.560;HRun=0;HaplotypeScore=10.9658;MQ=49.80;MQ0=0;MQRankSum=0.834;QD=9.82;ReadPosRankSum=-0.524;SB=-1533.84;TI=NM_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:143,110:253:99:2514,0,3144:0.435:99 chr5 125880589 rs2775 T C 3201.77 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.873;DP=255;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.0357;MQ=55.00;MQ0=0;MQRankSum=0.709;QD=12.56;ReadPosRankSum=1.311;SB=-2231.66;TI=NM_001182;GI=ALDH7A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:119,135:255:99:3232,0,2776:0.531:99 chr5 131705458 rs2631367 C G 1651.29 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.501;DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6756;MQ=39.25;MQ0=0;MQRankSum=1.686;QD=22.02;ReadPosRankSum=1.686;SB=-1377.96;TI=NM_003060;GI=SLC22A5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,74:75:92.73:1684,93,0:0.987:92 chr5 131705949 rs2631365;rs61742215 T C 4309.09 PASS AC=2;AF=1.00;AN=2;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.4530;MQ=52.13;MQ0=9;QD=24.48;SB=-2965.24;TI=NM_003060;GI=SLC22A5;FC=Synonymous_L95L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,176:176:99:4309,310,0:1.000:99 chr5 131721174 rs274558 A G 13837.26 PASS AC=2;AF=1.00;AN=2;DP=541;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=18.3203;MQ=48.17;MQ0=0;QD=25.58;SB=-9956.90;TI=NM_003060;GI=SLC22A5;FC=Synonymous_L269L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,540:541:99:13837,978,0:1.000:99 chr5 131730052 rs67581670 CA C 4586.35 PASS AC=2;AF=1.00;AN=2;DP=129;FS=0.000;HRun=4;HaplotypeScore=147.6420;MQ=59.21;MQ0=0;QD=35.55;SB=-2024.38;TI=NM_003060;GI=SLC22A5;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:7,117:129:99:4586,352,0:0.944:99 chr5 131730807 rs274548 T C 3917.86 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.490;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.4420;MQ=49.07;MQ0=0;MQRankSum=1.126;QD=27.21;ReadPosRankSum=1.369;SB=-2269.52;TI=NM_003060;GI=SLC22A5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,142:144:99:3918,277,0:0.993:99 chr5 131730920 rs72795171 T A 342.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.925;DP=103;Dels=0.01;FS=4.814;HRun=4;HaplotypeScore=114.4214;MQ=44.98;MQ0=0;MQRankSum=0.091;QD=3.33;ReadPosRankSum=-1.722;SB=-181.08;TI=NM_003060;GI=SLC22A5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:75,27:102:99:373,0,1871:0.265:99 chr5 131730923 rs9686866 A C 420.87 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.104;DP=103;Dels=0.00;FS=9.960;HRun=0;HaplotypeScore=124.4012;MQ=44.98;MQ0=0;MQRankSum=-1.096;QD=4.09;ReadPosRankSum=-1.294;SB=-152.81;TI=NM_003060;GI=SLC22A5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:74,29:103:99:451,0,1652:0.282:99 chr5 131730923 rs14701 A AC 4193.53 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.012;DP=103;FS=0.000;HRun=0;HaplotypeScore=744.4119;MQ=44.98;MQ0=0;MQRankSum=0.257;QD=40.71;ReadPosRankSum=1.629;SB=-1970.31;TI=NM_003060;GI=SLC22A5;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:39,64:102:99:4194,299,0:0.621:99 chr5 131731304 rs274547 A T 9921.15 PASS AC=2;AF=1.00;AN=2;DP=365;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=19.1841;MQ=55.18;MQ0=0;QD=27.18;SB=-5552.41;TI=NM_003060;GI=SLC22A5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,365:365:99:9921,716,0:1.000:99 chr5 132203997 rs17166297 A G 2365.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.935;DP=229;Dels=0.00;FS=2.962;HRun=0;HaplotypeScore=6.4401;MQ=46.44;MQ0=0;MQRankSum=-1.314;QD=10.33;ReadPosRankSum=-0.644;SB=-1687.80;TI=NM_014402;GI=UQCRQ;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:118,111:229:99:2395,0,2429:0.485:99 chr5 149360877 rs30832 T C 9836.08 PASS AC=2;AF=1.00;AN=2;DP=369;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.9950;MQ=47.41;MQ0=0;QD=26.66;SB=-6579.49;TI=NM_000112;GI=SLC26A2;FC=Missense_I574T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,369:369:99:9836,698,0:1.000:99 chr5 149361221 rs3776070 A T 1433.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.104;DP=112;Dels=0.00;FS=4.707;HRun=0;HaplotypeScore=9.1234;MQ=55.30;MQ0=0;MQRankSum=2.006;QD=12.80;ReadPosRankSum=1.520;SB=-792.69;TI=NM_000112;GI=SLC26A2;FC=Missense_T689S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:50,61:112:99:1463,0,1249:0.550:99 chr5 149362584 . T TA 236.36 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.464;DP=119;FS=7.499;HRun=13;HaplotypeScore=206.8362;MQ=57.38;MQ0=0;MQRankSum=0.618;QD=1.99;ReadPosRankSum=0.988;SB=-131.21;TI=NM_000112;GI=SLC26A2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:80,22:119:99:275,0,1320:0.216:99 chr5 149364780 rs30833 C T 3987.32 PASS AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.5701;MQ=50.27;MQ0=0;QD=29.32;SB=-2263.45;TI=NM_000112;GI=SLC26A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,136:136:99:3987,292,0:1.000:99 chr5 149365836 rs33921720 GT G 4040.17 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.952;DP=263;FS=2.826;HRun=9;HaplotypeScore=379.6074;MQ=57.36;MQ0=0;MQRankSum=-0.423;QD=15.36;ReadPosRankSum=-1.615;SB=-1994.65;TI=NM_000112;GI=SLC26A2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:121,136:263:99:4040,0,2385:0.529:99 chr5 149366714 rs17711997 T C 4261.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.717;DP=331;Dels=0.00;FS=0.407;HRun=1;HaplotypeScore=20.7614;MQ=52.89;MQ0=0;MQRankSum=0.737;QD=12.87;ReadPosRankSum=0.129;SB=-2709.54;TI=NM_000112;GI=SLC26A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:144,187:331:99:4262,0,3253:0.565:99 chr5 149366929 rs10476926 G A 4085.32 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.281;DP=434;Dels=0.00;FS=1.575;HRun=0;HaplotypeScore=10.6532;MQ=48.76;MQ0=0;MQRankSum=2.409;QD=9.41;ReadPosRankSum=0.820;SB=-2865.72;TI=NM_000112;GI=SLC26A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:240,193:434:99:4085,0,5271:0.446:99 chr5 158742014 rs1368439 G T 23391.36 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.052;DP=901;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=34.9306;MQ=51.86;MQ0=0;MQRankSum=0.552;QD=25.96;ReadPosRankSum=1.194;SB=-17417.73;TI=NM_002187;GI=IL12B;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,900:901:99:23391,1651,0:0.999:99 chr5 158742950 rs3212227 T G 8174.47 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.933;DP=645;Dels=0.00;FS=4.208;HRun=0;HaplotypeScore=34.4245;MQ=53.44;MQ0=0;MQRankSum=1.482;QD=12.67;ReadPosRankSum=-0.780;SB=-5050.99;TI=NM_002187;GI=IL12B;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:321,322:645:99:8174,0,8021:0.501:99 chr5 176721198 rs28580074 T C 16694.88 PASS AC=2;AF=1.00;AN=2;DP=628;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=20.0444;MQ=49.83;MQ0=0;QD=26.58;SB=-11685.93;TI=NM_172349,NM_022455;GI=NSD1,NSD1;FC=Synonymous_L2008L,Synonymous_L2277L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,628:628:99:16695,1183,0:1.000:99 chr5 177419291 . G A 196.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.031;DP=28;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5711;MQ=37.93;MQ0=0;MQRankSum=-0.887;QD=7.02;ReadPosRankSum=-2.949;SB=-111.19;TI=NM_006261;GI=PROP1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,10:28:99:226,0,449:0.357:99 chr5 177422876 rs7445271 T C 4893.09 PASS AC=2;AF=1.00;AN=2;DP=182;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3310;MQ=55.14;MQ0=0;QD=26.89;SB=-2666.49;TI=NM_006261;GI=PROP1;FC=Missense_N20S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,182:182:99:4893,349,0:1.000:99 chr5 177422908 rs1135320 A G 6874.14 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.719;DP=275;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.8290;MQ=52.24;MQ0=0;MQRankSum=0.372;QD=25.00;ReadPosRankSum=0.208;SB=-4914.28;TI=NM_006261;GI=PROP1;FC=Synonymous_A9A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,274:275:99:6874,485,0:0.996:99 chr5 177423144 rs13187293 T G 4242.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.544;DP=439;Dels=0.00;FS=0.730;HRun=0;HaplotypeScore=36.4100;MQ=48.42;MQ0=0;MQRankSum=-2.240;QD=9.66;ReadPosRankSum=0.482;SB=-2845.04;TI=NM_006261;GI=PROP1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:235,204:439:99:4243,0,5006:0.465:99 chr6 7563983 rs2806234 T G 21955.73 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.920;DP=839;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=52.4541;MQ=51.94;MQ0=0;MQRankSum=0.662;QD=26.17;ReadPosRankSum=1.163;SB=-15313.05;TI=NM_004415,NM_001008844;GI=DSP,DSP;FC=Synonymous_A247A,Synonymous_A247A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,836:839:99:21956,1559,0:0.996:99 chr6 7572262 rs2076304 A G 10204.25 PASS AC=2;AF=1.00;AN=2;DP=379;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=15.1904;MQ=49.35;MQ0=0;QD=26.92;SB=-6352.19;TI=NM_004415,NM_001008844;GI=DSP,DSP;FC=Synonymous_G697G,Synonymous_G697G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,378:379:99:10204,734,0:1.000:99 chr6 7576527 rs1016835 G A 16252.02 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.687;DP=614;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=32.7925;MQ=52.30;MQ0=0;MQRankSum=1.687;QD=26.47;ReadPosRankSum=-1.625;SB=-10864.95;TI=NM_004415,NM_001008844;GI=DSP,DSP;FC=Unknown_877,Unknown_877;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,612:614:99:16252,1159,0:0.998:99 chr6 7585967 rs2744380 G C 3839.15 PASS AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6546;MQ=55.01;MQ0=0;QD=29.31;SB=-2188.87;TI=NM_004415,NM_001008844;GI=DSP,DSP;FC=Synonymous_G2824G,Synonymous_G2225G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,131:131:99:3839,283,0:1.000:99 chr6 24534193 rs1054899 C A 2151.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.213;DP=192;Dels=0.00;FS=1.151;HRun=0;HaplotypeScore=16.4613;MQ=48.36;MQ0=0;MQRankSum=0.730;QD=11.21;ReadPosRankSum=-0.278;SB=-1298.71;TI=NM_001080,NM_170740;GI=ALDH5A1,ALDH5A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,97:192:99:2182,0,2107:0.505:99 chr6 24535780 rs2744602 G A 913.77 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.456;DP=68;Dels=0.00;FS=3.505;HRun=0;HaplotypeScore=10.9898;MQ=58.28;MQ0=0;MQRankSum=1.478;QD=13.44;ReadPosRankSum=-0.960;SB=-35.26;TI=NM_001080,NM_170740;GI=ALDH5A1,ALDH5A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:37,31:68:99:944,0,1209:0.456:99 chr6 39872354 . G GAAAT 5723.23 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.548;DP=286;FS=6.913;HRun=0;HaplotypeScore=233.2505;MQ=51.96;MQ0=0;MQRankSum=3.847;QD=20.01;ReadPosRankSum=0.951;SB=-2484.94;TI=NM_015345,NM_005943,NR_033233,NM_001075098;GI=DAAM2,MOCS1,MOCS1,MOCS1;FC=Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:183,98:286:99:5723,0,9578:0.349:99 chr6 39872504 rs3793137 C A 2016.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.354;DP=208;Dels=0.00;FS=3.184;HRun=1;HaplotypeScore=6.5507;MQ=50.81;MQ0=0;MQRankSum=-0.355;QD=9.70;ReadPosRankSum=0.604;SB=-1358.75;TI=NM_015345,NM_005943,NR_033233,NM_001075098;GI=DAAM2,MOCS1,MOCS1,MOCS1;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:117,91:208:99:2047,0,2576:0.438:99 chr6 39872799 rs3749999 T G 4195.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.022;DP=436;Dels=0.00;FS=2.490;HRun=0;HaplotypeScore=10.9170;MQ=48.95;MQ0=0;MQRankSum=-1.329;QD=9.62;ReadPosRankSum=-1.713;SB=-3198.06;TI=NM_005943,NR_033233,NM_001075098;GI=MOCS1,MOCS1,MOCS1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:236,200:436:99:4196,0,4936:0.459:99 chr6 39881120 rs35825585 G A 3160.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.189;DP=297;Dels=0.00;FS=3.852;HRun=0;HaplotypeScore=12.8425;MQ=48.84;MQ0=0;MQRankSum=-1.422;QD=10.64;ReadPosRankSum=1.128;SB=-2414.35;TI=NM_005943,NR_033233,NM_001075098;GI=MOCS1,MOCS1,MOCS1;FC=Missense_A233V,Silent,Missense_A233V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:144,152:297:99:3190,0,3082:0.514:99 chr6 39895410 rs3008822 T C 10239.61 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.205;DP=405;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=29.2211;MQ=50.56;MQ0=0;MQRankSum=0.908;QD=25.28;ReadPosRankSum=1.458;SB=-6735.61;TI=NM_005943,NR_033233,NM_001075098;GI=MOCS1,MOCS1,MOCS1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,402:405:99:10240,690,0:0.993:99 chr6 49398115 rs9381784 C T 8171.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.420;DP=698;Dels=0.00;FS=1.897;HRun=0;HaplotypeScore=25.0512;MQ=50.31;MQ0=0;MQRankSum=4.687;QD=11.71;ReadPosRankSum=0.396;SB=-5641.18;TI=NM_000255;GI=MUT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:328,369:698:99:8171,0,7141:0.529:99 chr6 49398333 rs76854879 G GT 7611.43 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.605;DP=395;FS=0.764;HRun=1;HaplotypeScore=277.6790;MQ=57.13;MQ0=0;MQRankSum=4.450;QD=19.27;ReadPosRankSum=0.583;SB=-3631.02;TI=NM_000255;GI=MUT;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:182,206:395:99:7611,0,6369:0.531:99 chr6 49399239 rs71809455 AT A 5370.06 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-3.324;DP=442;FS=0.000;HRun=10;HaplotypeScore=580.8732;MQ=50.29;MQ0=0;MQRankSum=3.310;QD=12.15;ReadPosRankSum=-0.891;SB=-2382.17;TI=NM_000255;GI=MUT;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:219,213:442:99:5370,0,4774:0.493:99 chr6 49403282 rs8589 T C 5240.55 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.323;DP=529;Dels=0.00;FS=4.764;HRun=0;HaplotypeScore=24.7690;MQ=49.17;MQ0=0;MQRankSum=-1.909;QD=9.91;ReadPosRankSum=-0.557;SB=-3863.55;TI=NM_000255;GI=MUT;FC=Missense_I671V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:285,244:529:99:5241,0,6769:0.461:99 chr6 49412433 rs1141321 C T 8088.01 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.875;DP=738;Dels=0.00;FS=1.485;HRun=0;HaplotypeScore=21.7271;MQ=50.76;MQ0=0;MQRankSum=2.452;QD=10.96;ReadPosRankSum=-2.057;SB=-5891.92;TI=NM_000255;GI=MUT;FC=Missense_R532H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:373,364:738:99:8088,0,8806:0.494:99 chr6 49425521 rs2229384 C T 7140.16 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.167;DP=630;Dels=0.00;FS=0.925;HRun=2;HaplotypeScore=31.7091;MQ=52.16;MQ0=0;MQRankSum=3.287;QD=11.33;ReadPosRankSum=2.050;SB=-4746.21;TI=NM_000255;GI=MUT;FC=Synonymous_K212K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:316,312:630:99:7140,0,6991:0.497:99 chr6 49430974 rs3729619 T A 5950.49 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.815;DP=576;Dels=0.00;FS=2.132;HRun=1;HaplotypeScore=35.0967;MQ=49.67;MQ0=0;MQRankSum=1.576;QD=10.33;ReadPosRankSum=2.142;SB=-4158.10;TI=NM_000255;GI=MUT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:297,275:576:99:5950,0,6681:0.481:99 chr6 51480486 rs2784198 G T 3026.97 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.056;DP=207;Dels=0.00;FS=2.037;HRun=0;HaplotypeScore=26.4490;MQ=56.21;MQ0=0;MQRankSum=1.838;QD=14.62;ReadPosRankSum=0.038;SB=-966.24;TI=NM_138694;GI=PKHD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,112:207:99:3057,0,2593:0.541:99 chr6 51480853 rs2784199 T C 2477.87 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.169;DP=212;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=24.8721;MQ=52.78;MQ0=0;MQRankSum=2.534;QD=11.69;ReadPosRankSum=-0.122;SB=-1464.35;TI=NM_138694;GI=PKHD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:106,106:212:99:2508,0,2429:0.500:99 chr6 51481315 rs1414504 T C 3445.14 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.332;DP=130;Dels=0.00;FS=4.321;HRun=3;HaplotypeScore=53.4446;MQ=51.06;MQ0=0;MQRankSum=1.386;QD=26.50;ReadPosRankSum=-0.640;SB=-1628.97;TI=NM_138694;GI=PKHD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,129:130:99:3445,230,0:0.992:99 chr6 51481325 . A AT 412.70 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.263;DP=121;FS=4.742;HRun=15;HaplotypeScore=704.5731;MQ=52.00;MQ0=0;MQRankSum=0.898;QD=3.41;ReadPosRankSum=-1.435;SB=-164.46;TI=NM_138694;GI=PKHD1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:56,35:121:99:452,0,1004:0.385:99 chr6 51481671 rs2784200 T C 3291.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.662;DP=321;Dels=0.00;FS=0.411;HRun=0;HaplotypeScore=13.9701;MQ=50.70;MQ0=0;MQRankSum=-0.412;QD=10.25;ReadPosRankSum=-0.464;SB=-2438.77;TI=NM_138694;GI=PKHD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:168,153:321:99:3292,0,3580:0.477:99 chr6 51483505 rs2784201 A G 3951.71 PASS AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.4955;MQ=50.18;MQ0=0;QD=27.44;SB=-2090.71;TI=NM_138694;GI=PKHD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,143:144:99:3952,289,0:1.000:99 chr6 51586771 rs9349593 G A 10993.95 PASS AC=2;AF=1.00;AN=2;DP=403;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=20.6942;MQ=48.27;MQ0=0;QD=27.28;SB=-7038.28;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,401:403:99:10994,792,0:1.000:99 chr6 51613177 rs765525 C T 7049.27 PASS AC=2;AF=1.00;AN=2;DP=277;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2478;MQ=45.41;MQ0=0;QD=25.45;SB=-5016.67;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Synonymous_A3079A,Synonymous_A3079A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,277:277:99:7049,497,0:1.000:99 chr6 51720838 rs9349603 T C 24347.41 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.706;DP=943;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=42.0549;MQ=52.06;MQ0=0;MQRankSum=1.706;QD=25.82;ReadPosRankSum=0.443;SB=-16341.15;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Synonymous_L2588L,Synonymous_L2588L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,934:943:99:24347,1731,0:0.999:99 chr6 51824680 rs1266923 G A 6377.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.179;DP=598;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=26.2938;MQ=48.68;MQ0=0;MQRankSum=0.349;QD=10.66;ReadPosRankSum=4.276;SB=-4292.54;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Synonymous_L1966L,Synonymous_L1966L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:313,282:598:99:6377,0,7175:0.474:99 chr6 51875250 rs2435322 A C 18217.85 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.938;DP=697;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=41.8320;MQ=49.77;MQ0=0;MQRankSum=1.568;QD=26.14;ReadPosRankSum=1.292;SB=-13117.05;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Missense_L1870V,Missense_L1870V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,693:697:99:18218,1297,0:0.996:99 chr6 51917968 rs4715271 T G 3438.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.077;DP=330;Dels=0.00;FS=4.293;HRun=4;HaplotypeScore=20.1732;MQ=50.80;MQ0=0;MQRankSum=-0.917;QD=10.42;ReadPosRankSum=1.654;SB=-2565.65;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Synonymous_P682P,Synonymous_P682P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:169,161:330:99:3438,0,3752:0.488:99 chr6 51924774 rs1896976 A G 14509.69 PASS AC=2;AF=1.00;AN=2;DP=574;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=30.0848;MQ=49.61;MQ0=0;QD=25.28;SB=-11025.54;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Synonymous_D395D,Synonymous_D395D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,574:574:99:14510,1017,0:1.000:99 chr6 51947257 rs6901799 G A 6983.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.463;DP=664;Dels=0.00;FS=2.344;HRun=1;HaplotypeScore=29.9894;MQ=49.61;MQ0=0;MQRankSum=4.453;QD=10.52;ReadPosRankSum=2.669;SB=-4982.69;TI=NM_138694,NM_170724;GI=PKHD1,PKHD1;FC=Synonymous_L72L,Synonymous_L72L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:347,317:664:99:6984,0,7824:0.477:99 chr6 74303746 . CT C 51.92 LowVariantFreq;R8;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.228;DP=57;FS=0.000;HRun=13;HaplotypeScore=162.6156;MQ=54.97;MQ0=0;MQRankSum=1.083;QD=0.91;ReadPosRankSum=1.026;SB=-1.45;TI=NM_012434;GI=SLC17A5;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,8:57:90.95:91,0,781:0.167:51 chr6 74303829 rs670248 C T 145.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.792;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=53.95;MQ0=0;MQRankSum=2.060;QD=7.26;ReadPosRankSum=-0.079;SB=-34.63;TI=NM_012434;GI=SLC17A5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,7:20:99:175,0,335:0.350:99 chr6 74354175 rs472294 C T 8480.29 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=5.198;DP=805;Dels=0.00;FS=2.159;HRun=0;HaplotypeScore=51.2364;MQ=51.92;MQ0=0;MQRankSum=2.194;QD=10.53;ReadPosRankSum=1.838;SB=-4489.76;TI=NM_012434;GI=SLC17A5;FC=Synonymous_A82A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:441,362:805:99:8480,0,10767:0.451:99 chr6 81053642 rs926733 G A 7921.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=8.878;DP=763;Dels=0.00;FS=11.166;HRun=0;HaplotypeScore=44.5174;MQ=54.28;MQ0=0;MQRankSum=4.108;QD=10.38;ReadPosRankSum=1.683;SB=-4752.45;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:411,350:763:99:7921,0,8877:0.460:99 chr6 81053716 . TTTG T 11149.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=14.483;DP=582;FS=2.480;HRun=0;HaplotypeScore=1468.0950;MQ=54.42;MQ0=0;MQRankSum=1.895;QD=19.16;ReadPosRankSum=-0.106;SB=-3533.46;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:372,208:582:99:11150,0,12539:0.359:99 chr6 81053814 rs926732 T C 1643.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.462;DP=115;Dels=0.00;FS=0.751;HRun=4;HaplotypeScore=9.3936;MQ=54.76;MQ0=0;MQRankSum=0.411;QD=14.29;ReadPosRankSum=-0.128;SB=-596.03;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:56,58:115:99:1673,0,1603:0.509:99 chr6 81053825 rs926731 G A 1508.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.043;DP=113;Dels=0.00;FS=1.615;HRun=1;HaplotypeScore=16.2930;MQ=54.43;MQ0=0;MQRankSum=0.187;QD=13.35;ReadPosRankSum=0.319;SB=-532.95;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:57,56:113:99:1538,0,1584:0.496:99 chr6 81053866 rs1811844 C T 1611.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.441;DP=145;Dels=0.00;FS=3.988;HRun=0;HaplotypeScore=19.5813;MQ=51.16;MQ0=0;MQRankSum=0.595;QD=11.11;ReadPosRankSum=-0.477;SB=-1117.39;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:73,72:145:99:1641,0,1786:0.497:99 chr6 81053916 rs4706116 G T 5148.88 PASS AC=2;AF=1.00;AN=2;DP=199;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.9753;MQ=47.64;MQ0=0;QD=25.87;SB=-3573.77;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,199:199:99:5149,370,0:1.000:99 chr6 81054065 . ATT A,ATTTT 1529.50 PASS AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-1.428;DP=115;FS=0.000;HaplotypeScore=260.2085;MQ=46.41;MQ0=0;MQRankSum=1.888;QD=13.30;ReadPosRankSum=-0.401;SB=-684.72;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:27,41,0:114:99:1608,227,780,1363,0,2683:0.603:99 chr6 81054148 rs4706838 T C 584.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.529;DP=46;Dels=0.00;FS=4.504;HRun=1;HaplotypeScore=4.6378;MQ=51.54;MQ0=0;MQRankSum=0.441;QD=12.72;ReadPosRankSum=-1.808;SB=-344.90;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,25:46:99:615,0,560:0.543:99 chr6 81054247 . A G 904.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.133;DP=71;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.4197;MQ=54.34;MQ0=0;MQRankSum=-0.374;QD=12.74;ReadPosRankSum=-0.960;SB=-423.44;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,36:71:99:934,0,834:0.507:99 chr6 81054252 rs4706117 C T 969.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.311;DP=77;Dels=0.00;FS=3.106;HRun=0;HaplotypeScore=10.4320;MQ=54.27;MQ0=0;MQRankSum=2.248;QD=12.59;ReadPosRankSum=-0.127;SB=-553.85;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:37,40:77:99:1000,0,910:0.519:99 chr6 81054310 rs4706118 C T 1614.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.141;DP=161;Dels=0.00;FS=1.263;HRun=0;HaplotypeScore=16.6778;MQ=51.08;MQ0=0;MQRankSum=3.472;QD=10.03;ReadPosRankSum=0.008;SB=-1144.01;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:86,75:161:99:1644,0,1943:0.466:99 chr6 81054326 rs4706839 T C 1645.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.105;DP=179;Dels=0.00;FS=0.554;HRun=0;HaplotypeScore=17.4877;MQ=50.63;MQ0=0;MQRankSum=2.616;QD=9.19;ReadPosRankSum=-0.351;SB=-1266.90;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:94,85:179:99:1676,0,2187:0.475:99 chr6 81054353 rs60566469 C T 3006.99 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.011;DP=272;Dels=0.00;FS=0.939;HRun=0;HaplotypeScore=50.1262;MQ=47.08;MQ0=0;MQRankSum=-1.613;QD=11.06;ReadPosRankSum=1.272;SB=-2086.50;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:133,139:272:99:3037,0,2800:0.511:99 chr6 81054515 rs4502885 G A 3540.94 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.446;DP=357;Dels=0.00;FS=2.331;HRun=1;HaplotypeScore=10.9323;MQ=53.82;MQ0=0;MQRankSum=3.649;QD=9.92;ReadPosRankSum=0.882;SB=-2066.98;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:207,149:357:99:3541,0,4931:0.419:99 chr6 81054663 rs1042367 C G 7383.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.118;DP=609;Dels=0.00;FS=2.530;HRun=1;HaplotypeScore=40.4976;MQ=55.38;MQ0=0;MQRankSum=1.135;QD=12.12;ReadPosRankSum=0.227;SB=-4273.68;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:302,304:609:99:7384,0,7407:0.502:99 chr6 81054762 rs1042368 A G 7772.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.439;DP=620;Dels=0.00;FS=1.284;HRun=0;HaplotypeScore=46.7407;MQ=53.62;MQ0=0;MQRankSum=3.229;QD=12.54;ReadPosRankSum=0.299;SB=-4454.80;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:308,310:620:99:7772,0,7833:0.502:99 chr6 81054965 rs3805848 T C 8337.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.221;DP=747;Dels=0.00;FS=7.493;HRun=0;HaplotypeScore=47.0999;MQ=52.54;MQ0=0;MQRankSum=5.538;QD=11.16;ReadPosRankSum=3.883;SB=-5198.09;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:389,354:747:99:8337,0,9647:0.476:99 chr6 81055299 rs7758761 A G 5060.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.137;DP=530;Dels=0.00;FS=1.409;HRun=0;HaplotypeScore=19.1866;MQ=49.24;MQ0=0;MQRankSum=0.593;QD=9.55;ReadPosRankSum=-0.511;SB=-3428.94;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:298,232:530:99:5061,0,6680:0.438:99 chr6 81055331 rs7740932 T C 6254.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.562;DP=636;Dels=0.00;FS=1.626;HRun=1;HaplotypeScore=31.3029;MQ=49.77;MQ0=0;MQRankSum=-2.580;QD=9.83;ReadPosRankSum=-0.570;SB=-4251.42;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:340,294:636:99:6254,0,7389:0.464:99 chr6 81055396 rs7759304 G A 6871.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.130;DP=696;Dels=0.00;FS=3.559;HRun=1;HaplotypeScore=20.6372;MQ=48.99;MQ0=0;MQRankSum=-1.240;QD=9.87;ReadPosRankSum=1.471;SB=-4560.99;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:385,309:696:99:6871,0,8677:0.445:99 chr6 81055413 rs7740958 T C 7111.55 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=5.354;DP=684;Dels=0.00;FS=0.572;HRun=2;HaplotypeScore=29.9912;MQ=49.40;MQ0=0;MQRankSum=-1.446;QD=10.40;ReadPosRankSum=-0.356;SB=-4865.43;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:363,321:684:99:7112,0,8413:0.469:99 chr6 81055792 rs15062 G A 8458.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=5.026;DP=712;Dels=0.00;FS=11.370;HRun=2;HaplotypeScore=40.9003;MQ=54.22;MQ0=0;MQRankSum=5.931;QD=11.88;ReadPosRankSum=1.770;SB=-3643.01;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:378,330:712:99:8458,0,9665:0.466:99 chr6 81055803 rs10864 C T 8783.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.516;DP=701;Dels=0.00;FS=10.087;HRun=0;HaplotypeScore=36.8356;MQ=54.61;MQ0=0;MQRankSum=5.294;QD=12.53;ReadPosRankSum=-1.876;SB=-3741.52;TI=NM_000056,NM_183050;GI=BCKDHB,BCKDHB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:362,339:701:99:8783,0,9097:0.484:99 chr6 88182704 rs9450704 G C 1012.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.526;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.1521;MQ=57.20;MQ0=0;MQRankSum=1.087;QD=10.33;ReadPosRankSum=1.304;SB=-552.86;TI=NM_006416,NM_001168398;GI=SLC35A1,SLC35A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:57,41:98:99:1042,0,1492:0.418:99 chr6 88221546 rs1051131 A G 2881.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.167;DP=295;Dels=0.00;FS=5.484;HRun=0;HaplotypeScore=20.2902;MQ=49.88;MQ0=0;MQRankSum=0.276;QD=9.77;ReadPosRankSum=-0.183;SB=-1596.69;TI=NM_006416,NM_001168398;GI=SLC35A1,SLC35A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:162,133:295:99:2911,0,3630:0.451:99 chr6 88221763 rs10681831 C CTGAA 9061.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.495;DP=316;FS=6.756;HRun=0;HaplotypeScore=230.1266;MQ=53.68;MQ0=0;MQRankSum=5.170;QD=28.68;ReadPosRankSum=3.087;SB=-3595.34;TI=NM_006416,NM_001168398;GI=SLC35A1,SLC35A1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:175,139:316:99:9061,0,10706:0.443:99 chr6 88221892 rs1051148 T G 1636.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.990;DP=133;Dels=0.00;FS=0.703;HRun=0;HaplotypeScore=19.1344;MQ=57.29;MQ0=0;MQRankSum=0.593;QD=12.31;ReadPosRankSum=-1.050;SB=-573.62;TI=NM_006416,NM_001168398;GI=SLC35A1,SLC35A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:71,61:133:99:1667,0,2006:0.462:99 chr6 97337537 rs7758762 C T 4072.80 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.446;DP=315;Dels=0.00;FS=1.401;HRun=0;HaplotypeScore=12.9400;MQ=53.63;MQ0=0;MQRankSum=1.253;QD=12.93;ReadPosRankSum=-0.822;SB=-1959.97;TI=NM_014165;GI=NDUFAF4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:155,159:315:99:4073,0,3909:0.506:99 chr6 97338598 rs1971475 A T 9297.91 PASS AC=2;AF=1.00;AN=2;DP=347;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.2738;MQ=51.88;MQ0=0;QD=26.80;SB=-6596.30;TI=NM_014165;GI=NDUFAF4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,344:347:99:9298,665,0:1.000:99 chr6 97338679 rs1854268 A T 3067.29 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.282;DP=197;Dels=0.00;FS=8.606;HRun=0;HaplotypeScore=4.6767;MQ=54.85;MQ0=0;MQRankSum=-0.347;QD=15.57;ReadPosRankSum=-0.964;SB=-1760.54;TI=NM_014165;GI=NDUFAF4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:84,113:197:99:3097,0,2380:0.574:99 chr6 97339078 rs6684 A G 9041.69 PASS AC=2;AF=1.00;AN=2;DP=325;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.9169;MQ=55.71;MQ0=0;QD=27.82;SB=-5715.56;TI=NM_014165;GI=NDUFAF4;FC=Synonymous_L144L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,324:325:99:9042,659,0:1.000:99 chr6 97339088 rs11402 C T 8137.74 PASS AC=2;AF=1.00;AN=2;DP=280;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.2262;MQ=57.42;MQ0=0;QD=29.06;SB=-5180.63;TI=NM_014165;GI=NDUFAF4;FC=Synonymous_Q140Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,280:280:99:8138,593,0:1.000:99 chr6 102517170 . AAAT AAATAAT,A 2594.00 PASS AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-1.391;DP=147;FS=1.798;HaplotypeScore=106.3834;MQ=53.12;MQ0=0;MQRankSum=0.844;QD=17.65;ReadPosRankSum=2.007;SB=-1197.77;TI=NM_175768,NM_001166247,NM_021956;GI=GRIK2,GRIK2,GRIK2;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:83,3,22:147:99:2672,933,1697,1721,0,2994:0.231:99 chr6 108363618 rs71962519 CT C 118.71 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.401;DP=50;FS=0.000;HRun=19;HaplotypeScore=205.2111;MQ=44.27;MQ0=0;MQRankSum=0.206;QD=2.37;ReadPosRankSum=-1.399;SB=-80.41;TI=NM_014028;GI=OSTM1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:23,7:50:99:158,0,245:0.233:99 chr6 108363792 . G T 60.88 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.131;DP=147;Dels=0.00;FS=41.604;HRun=5;HaplotypeScore=10.9946;MQ=50.21;MQ0=0;MQRankSum=-5.306;QD=0.41;ReadPosRankSum=-5.425;SB=-0.01;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:134,11:147:90.87:91,0,3193:0.076:60 chr6 108363794 . A T 54.87 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.344;DP=147;Dels=0.00;FS=42.302;HRun=6;HaplotypeScore=10.9946;MQ=50.21;MQ0=0;MQRankSum=-5.341;QD=0.37;ReadPosRankSum=-5.429;SB=-0.01;TI=NM_014028;GI=OSTM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:136,11:147:84.86:85,0,3233:0.075:54 chr6 116596247 rs6568924 C T 8565.01 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.889;DP=304;Dels=0.00;FS=1.694;HRun=0;HaplotypeScore=9.2853;MQ=53.44;MQ0=0;MQRankSum=2.094;QD=28.17;ReadPosRankSum=1.546;SB=-4205.69;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:6,298:304:99:8565,486,0:0.980:99 chr6 116596479 rs6568925 T A 7158.71 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.577;DP=242;Dels=0.00;FS=2.621;HRun=2;HaplotypeScore=25.4033;MQ=55.42;MQ0=0;MQRankSum=0.888;QD=29.58;ReadPosRankSum=1.145;SB=-2929.45;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,239:242:99:7159,488,0:0.988:99 chr6 116596543 rs6568926 A T 11248.87 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.460;DP=425;Dels=0.00;FS=2.127;HRun=2;HaplotypeScore=32.8667;MQ=53.24;MQ0=0;MQRankSum=1.436;QD=26.47;ReadPosRankSum=-1.559;SB=-7903.31;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,422:425:99:11249,731,0:0.993:99 chr6 116596798 . C A 31.55 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.543;DP=28;Dels=0.00;FS=9.748;HRun=1;HaplotypeScore=17.8265;MQ=44.03;MQ0=0;MQRankSum=-2.199;QD=1.13;ReadPosRankSum=-1.609;SB=-0.01;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,4:28:61.54:62,0,692:0.143:31 chr6 116596799 . T A 31.55 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.492;DP=28;Dels=0.00;FS=9.748;HRun=5;HaplotypeScore=17.8265;MQ=44.03;MQ0=0;MQRankSum=-2.396;QD=1.13;ReadPosRankSum=-1.609;SB=-0.01;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,4:28:61.54:62,0,687:0.143:31 chr6 116596800 . A C 53.22 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.300;DP=28;Dels=0.00;FS=9.748;HRun=0;HaplotypeScore=16.8318;MQ=44.03;MQ0=0;MQRankSum=-3.059;QD=1.90;ReadPosRankSum=-3.179;SB=-0.01;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:23,5:28:83.21:83,0,657:0.179:53 chr6 116596805 . T A 189.96 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.540;DP=27;Dels=0.00;FS=21.312;HRun=5;HaplotypeScore=15.9413;MQ=43.33;MQ0=0;MQRankSum=-3.626;QD=7.04;ReadPosRankSum=-4.192;SB=-0.01;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:18,9:27:99:220,0,487:0.333:99 chr6 116596807 . C A 152.78 SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.142;DP=27;Dels=0.00;FS=22.283;HRun=6;HaplotypeScore=11.9799;MQ=43.33;MQ0=0;MQRankSum=-3.266;QD=5.66;ReadPosRankSum=-3.637;SB=-0.01;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,8:27:99:183,0,498:0.296:99 chr6 116596961 . CA C 150.23 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.691;DP=123;FS=0.729;HRun=18;HaplotypeScore=544.9610;MQ=47.97;MQ0=1;MQRankSum=0.003;QD=1.22;ReadPosRankSum=-1.422;SB=-108.07;TI=NM_003309;GI=TSPYL1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:79,19:122:99:189,0,973:0.194:99 chr6 116597724 rs10484838 C G 8430.49 PASS AC=2;AF=1.00;AN=2;DP=298;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1523;MQ=55.30;MQ0=0;QD=28.29;SB=-4812.75;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,297:298:99:8430,608,0:1.000:99 chr6 116598475 rs1045182 T C 5099.33 PASS AC=2;AF=1.00;AN=2;DP=170;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.9058;MQ=54.89;MQ0=0;QD=30.00;SB=-2816.94;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,170:170:99:5099,376,0:1.000:99 chr6 116598793 rs10456904 G A 6381.30 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.673;DP=233;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4599;MQ=53.87;MQ0=0;MQRankSum=1.702;QD=27.39;ReadPosRankSum=1.063;SB=-3301.13;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,232:233:99:6381,460,0:0.996:99 chr6 116598853 rs1128261 A G 3928.86 PASS AC=2;AF=1.00;AN=2;DP=135;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=12.8339;MQ=52.95;MQ0=0;QD=29.10;SB=-1566.52;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,134:134:99:3929,289,0:1.000:99 chr6 116599098 . G A 70.08 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.115;DP=23;Dels=0.04;FS=24.362;HRun=26;HaplotypeScore=22.2328;MQ=29.22;MQ0=0;MQRankSum=-0.705;QD=3.05;ReadPosRankSum=-1.621;SB=-0.01;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,7:22:99:100,0,357:0.318:70 chr6 116599104 . C A 10.81 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.731;DP=21;Dels=0.05;FS=15.441;HRun=4;HaplotypeScore=16.0953;MQ=31.00;MQ0=0;MQRankSum=0.231;QD=0.51;ReadPosRankSum=-1.065;SB=-0.00;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,5:20:40.42:40,0,394:0.263:10 chr6 116599665 rs9400897 T C 887.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.559;DP=99;Dels=0.00;FS=0.806;HRun=3;HaplotypeScore=12.9919;MQ=54.38;MQ0=0;MQRankSum=2.447;QD=8.97;ReadPosRankSum=1.641;SB=-585.08;TI=NM_003309;GI=TSPYL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:57,39:99:99:918,0,1383:0.406:99 chr6 116600465 rs78371471 T TCAC 15551.34 PASS AC=2;AF=1.00;AN=2;DP=285;FS=0.000;HRun=0;HaplotypeScore=237.9129;MQ=57.15;MQ0=0;QD=54.57;SB=-7418.98;TI=NM_003309;GI=TSPYL1;FC=1AA_Insertion;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:12,270:285:99:15551,837,0:0.957:99 chr6 116600774 rs3749895 C G 3598.78 PASS AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.0321;MQ=48.52;MQ0=0;QD=27.06;SB=-2171.88;TI=NM_003309;GI=TSPYL1;FC=Missense_A74P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,133:133:99:3599,262,0:1.000:99 chr6 116600810 rs3828743 G A 1811.70 PASS AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.6376;MQ=51.02;MQ0=0;QD=27.04;SB=-1195.13;TI=NM_003309;GI=TSPYL1;FC=Missense_P62S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,65:67:99:1845,135,0:1.000:99 chr6 129381026 rs4404787 C A 25219.39 PASS AC=2;AF=1.00;AN=2;DP=952;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=38.0750;MQ=51.59;MQ0=0;QD=26.49;SB=-16677.51;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Synonymous_T127T,Synonymous_T127T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,949:952:99:25219,1794,0:1.000:99 chr6 129612808 rs1027199 A G 18056.14 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.536;DP=674;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=18.6161;MQ=49.27;MQ0=0;MQRankSum=0.100;QD=26.79;ReadPosRankSum=-0.758;SB=-12488.56;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Synonymous_Q933Q,Synonymous_Q933Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,672:674:99:18056,1220,0:0.997:99 chr6 129663497 . C A 4132.20 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.198;DP=387;Dels=0.00;FS=2.165;HRun=2;HaplotypeScore=15.6019;MQ=48.68;MQ0=0;MQRankSum=0.316;QD=10.68;ReadPosRankSum=1.759;SB=-3179.92;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Missense_H1441N,Missense_H1441N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:185,201:387:99:4132,0,4211:0.521:99 chr6 129722389 rs3749877 A G 6915.15 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.082;DP=559;Dels=0.00;FS=1.364;HRun=0;HaplotypeScore=23.8601;MQ=50.94;MQ0=0;MQRankSum=4.371;QD=12.37;ReadPosRankSum=0.225;SB=-4581.69;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Synonymous_E1822E,Synonymous_E1822E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:255,303:559:99:6915,0,5538:0.543:99 chr6 129722425 rs3749878 G A 7194.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.986;DP=571;Dels=0.00;FS=1.348;HRun=1;HaplotypeScore=34.0123;MQ=50.94;MQ0=0;MQRankSum=4.093;QD=12.60;ReadPosRankSum=-0.148;SB=-5164.73;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Synonymous_E1834E,Synonymous_E1834E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:254,316:571:99:7194,0,5346:0.554:99 chr6 129807629 rs6569605 C T 8724.76 PASS AC=2;AF=1.00;AN=2;DP=330;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.9740;MQ=47.85;MQ0=0;QD=26.44;SB=-6191.58;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Missense_A2583V,Missense_A2587V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,330:330:99:8725,626,0:1.000:99 chr6 129807699 rs6569606 G C 9561.97 PASS AC=2;AF=1.00;AN=2;DP=385;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.5683;MQ=49.74;MQ0=0;QD=24.84;SB=-7191.45;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Synonymous_V2606V,Synonymous_V2610V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,384:385:99:9562,674,0:1.000:99 chr6 129837680 . AAAT A 28596.93 PASS AC=2;AF=1.00;AN=2;DP=542;FS=0.000;HRun=0;HaplotypeScore=240.1459;MQ=53.55;MQ0=0;QD=52.76;SB=-13736.32;TI=NM_001079823,NM_000426;GI=LAMA2,LAMA2;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:42,495:542:99:28597,1490,0:0.922:99 chr6 132172368 rs1044498 A C 3871.94 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.330;DP=378;Dels=0.00;FS=0.377;HRun=1;HaplotypeScore=17.0144;MQ=49.09;MQ0=0;MQRankSum=-3.361;QD=10.24;ReadPosRankSum=-1.507;SB=-2520.07;TI=NM_006208;GI=ENPP1;FC=Missense_K173Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:201,176:378:99:3872,0,4399:0.467:99 chr6 132212694 rs7754561 A G 7291.17 PASS AC=2;AF=1.00;AN=2;DP=285;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.0172;MQ=47.78;MQ0=0;QD=25.58;SB=-4955.78;TI=NM_006208;GI=ENPP1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,284:285:99:7291,521,0:1.000:99 chr6 132212742 rs7754586 A C 6991.23 PASS AC=2;AF=1.00;AN=2;DP=266;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0194;MQ=46.14;MQ0=0;QD=26.28;SB=-4824.77;TI=NM_006208;GI=ENPP1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,266:266:99:6991,503,0:1.000:99 chr6 132212808 rs7754859 C T 2512.11 PASS AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.4219;MQ=45.05;MQ0=0;QD=29.55;SB=-1144.14;TI=NM_006208;GI=ENPP1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,85:85:99:2545,205,0:1.000:99 chr6 132213623 rs1931006 G C 4704.86 PASS AC=2;AF=1.00;AN=2;DP=174;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.9952;MQ=49.27;MQ0=0;QD=27.04;SB=-3270.28;TI=NM_006208;GI=ENPP1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,174:174:99:4705,337,0:1.000:99 chr6 132214668 rs1931009 C T 4365.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.057;DP=389;Dels=0.00;FS=1.663;HRun=0;HaplotypeScore=11.1139;MQ=51.17;MQ0=0;MQRankSum=-0.685;QD=11.22;ReadPosRankSum=-0.637;SB=-3306.67;TI=NM_006208;GI=ENPP1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:186,202:389:99:4366,0,4087:0.521:99 chr6 132214891 rs3035998 C CTTTCT 6066.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.274;DP=211;FS=1.126;HRun=0;HaplotypeScore=177.6752;MQ=52.08;MQ0=0;MQRankSum=1.852;QD=28.75;ReadPosRankSum=-0.717;SB=-2594.96;TI=NM_006208;GI=ENPP1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:122,89:209:99:6066,0,6592:0.422:99 chr6 132215162 rs9483350 T C 368.43 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.641;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.6057;MQ=38.42;MQ0=0;MQRankSum=-1.002;QD=11.16;ReadPosRankSum=0.455;SB=-0.01;TI=NM_006208;GI=ENPP1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,19:33:99:398,0,377:0.576:99 chr6 132215375 rs2327154 C T 41.51 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=33.24;MQ0=0;QD=20.75;SB=-0.01;TI=NM_006208;GI=ENPP1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.02:73,6,0:1.000:6 chr6 135818897 rs13197384 C A 1807.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.192;DP=142;Dels=0.00;FS=0.666;HRun=0;HaplotypeScore=13.0348;MQ=53.79;MQ0=0;MQRankSum=1.131;QD=12.73;ReadPosRankSum=0.368;SB=-957.36;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 0/1:60,80:142:99:1838,0,1321:0.571:99 chr6 137143709 rs1321471 T C 3283.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.293;DP=336;Dels=0.00;FS=2.383;HRun=2;HaplotypeScore=17.0201;MQ=49.20;MQ0=0;MQRankSum=0.924;QD=9.77;ReadPosRankSum=-1.544;SB=-2199.70;TI=NM_000288;GI=PEX7;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:177,158:336:99:3283,0,3698:0.472:99 chr6 137518966 . TA T 644.07 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.020;DP=177;FS=0.000;HRun=14;HaplotypeScore=515.4183;MQ=49.70;MQ0=0;MQRankSum=1.118;QD=3.64;ReadPosRankSum=-0.490;SB=-325.63;TI=NM_000416;GI=IFNGR1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:112,41:177:99:683,0,2132:0.268:99 chr6 137540520 rs2234711 A G 2222.78 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.875;DP=207;Dels=0.00;FS=0.510;HRun=0;HaplotypeScore=8.7921;MQ=48.01;MQ0=0;MQRankSum=0.182;QD=10.74;ReadPosRankSum=2.241;SB=-1585.22;TI=NM_000416;GI=IFNGR1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:101,106:207:99:2253,0,2202:0.512:99 chr6 144508698 rs3734228 G A 2453.31 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.533;DP=217;Dels=0.00;FS=3.873;HRun=0;HaplotypeScore=9.0403;MQ=48.20;MQ0=0;MQRankSum=0.867;QD=11.31;ReadPosRankSum=-1.371;SB=-1537.93;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:104,113:217:99:2483,0,2195:0.521:99 chr6 144509510 rs17073503 T C 2150.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.701;DP=163;Dels=0.00;FS=4.713;HRun=1;HaplotypeScore=11.1125;MQ=55.26;MQ0=0;MQRankSum=-0.032;QD=13.19;ReadPosRankSum=-1.340;SB=-1257.80;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:71,92:163:99:2181,0,1704:0.564:99 chr6 144509843 . G T 36.68 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.083;DP=37;Dels=0.00;FS=10.098;HRun=2;HaplotypeScore=55.3077;MQ=38.03;MQ0=0;MQRankSum=-1.052;QD=0.99;ReadPosRankSum=0.557;SB=-0.01;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:28,7:37:66.67:67,0,653:0.200:36 chr6 144509845 rs11453124 T TA 1056.17 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.998;DP=37;FS=0.000;HRun=4;HaplotypeScore=267.9291;MQ=38.03;MQ0=0;MQRankSum=-0.053;QD=28.55;ReadPosRankSum=-1.628;SB=-370.25;TI=NM_003764;GI=STX11;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:15,21:37:79.22:1098,79,0:0.583:79 chr6 144509850 rs12526485 T A 41.30 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.189;DP=39;Dels=0.00;FS=8.933;HRun=4;HaplotypeScore=54.5132;MQ=37.44;MQ0=0;MQRankSum=-1.575;QD=1.06;ReadPosRankSum=-1.365;SB=-0.01;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,5:39:71.30:71,0,872:0.128:41 chr6 144509855 . C T 131.14 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.883;DP=39;Dels=0.00;FS=1.885;HRun=5;HaplotypeScore=69.1909;MQ=37.44;MQ0=0;MQRankSum=-1.940;QD=3.36;ReadPosRankSum=-1.968;SB=-39.80;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,17:39:99:161,0,388:0.436:99 chr6 144509861 . C T 38.94 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.133;DP=38;Dels=0.03;FS=5.927;HRun=5;HaplotypeScore=46.5312;MQ=37.63;MQ0=0;MQRankSum=-0.950;QD=1.02;ReadPosRankSum=-0.256;SB=-0.01;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,9:37:68.94:69,0,463:0.250:38 chr6 144510056 . T A 33.17 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.6843;MQ=42.36;MQ0=0;MQRankSum=0.956;QD=4.15;ReadPosRankSum=1.221;SB=-31.62;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,3:8:63.16:63,0,108:0.375:33 chr6 144510421 rs4896705 A C 918.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.957;DP=73;Dels=0.00;FS=3.492;HRun=0;HaplotypeScore=14.2724;MQ=57.28;MQ0=0;MQRankSum=-1.388;QD=12.58;ReadPosRankSum=-1.510;SB=-409.64;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,34:73:99:948,0,988:0.466:99 chr6 144510926 rs3734227 C T 2048.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.478;DP=186;Dels=0.00;FS=1.897;HRun=1;HaplotypeScore=5.6805;MQ=56.77;MQ0=0;MQRankSum=1.387;QD=11.02;ReadPosRankSum=1.010;SB=-1167.98;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:99,87:186:99:2079,0,2511:0.468:99 chr6 144512671 . T TA 5842.77 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=2.337;DP=346;FS=1.097;HRun=11;HaplotypeScore=578.9806;MQ=56.35;MQ0=0;MQRankSum=2.062;QD=16.89;ReadPosRankSum=0.411;SB=-2585.20;TI=NM_003764;GI=STX11;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:70,239:346:99:5843,0,643:0.773:99 chr6 144512989 rs6912580 C T 3321.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.552;DP=271;Dels=0.00;FS=0.944;HRun=0;HaplotypeScore=5.4425;MQ=52.31;MQ0=0;MQRankSum=0.566;QD=12.25;ReadPosRankSum=1.741;SB=-1879.13;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:135,135:271:99:3321,0,3181:0.500:99 chr6 144513001 rs6935462 T A 3821.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.973;DP=323;Dels=0.00;FS=1.865;HRun=2;HaplotypeScore=7.3486;MQ=51.08;MQ0=0;MQRankSum=0.548;QD=11.83;ReadPosRankSum=1.960;SB=-2124.73;TI=NM_003764;GI=STX11;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:163,159:323:99:3821,0,3774:0.494:99 chr6 146056476 rs2235482 G C 1751.30 PASS AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.0755;MQ=45.40;MQ0=0;QD=25.75;SB=-988.54;TI=NM_001018041,NM_005670;GI=EPM2A,EPM2A;FC=Synonymous_A53A,Synonymous_A53A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,67:68:99:1784,126,0:1.000:99 chr6 146056681 . C T 949.63 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.452;DP=37;Dels=0.00;FS=4.649;HRun=0;HaplotypeScore=3.5916;MQ=48.64;MQ0=0;MQRankSum=1.639;QD=25.67;ReadPosRankSum=1.452;SB=-413.29;TI=NM_001018041,NM_005670;GI=EPM2A,EPM2A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,36:37:51.56:983,52,0:0.973:51 chr6 146056801 rs2072911 G A 5391.41 PASS AC=2;AF=1.00;AN=2;DP=197;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=13.2296;MQ=53.60;MQ0=0;QD=27.37;SB=-2674.53;TI=NM_001018041,NM_005670;GI=EPM2A,EPM2A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,197:197:99:5391,388,0:1.000:99 chr6 146056848 rs2235481 T C 8313.33 PASS AC=2;AF=1.00;AN=2;DP=303;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=14.3912;MQ=53.16;MQ0=0;QD=27.44;SB=-4601.42;TI=NM_001018041,NM_005670;GI=EPM2A,EPM2A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,301:303:99:8313,596,0:1.000:99 chr6 158613374 rs3841147 TA T 1974.73 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.747;DP=155;FS=0.000;HRun=13;HaplotypeScore=508.2280;MQ=54.94;MQ0=0;MQRankSum=2.717;QD=12.74;ReadPosRankSum=0.198;SB=-963.82;TI=NM_207118;GI=GTF2H5;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:56,77:154:99:2014,0,464:0.579:99 chr6 158613603 rs4425618 A C 1511.12 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.609;DP=141;Dels=0.00;FS=0.644;HRun=0;HaplotypeScore=6.3366;MQ=54.20;MQ0=0;MQRankSum=0.441;QD=10.72;ReadPosRankSum=0.909;SB=-843.67;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:73,66:141:99:1541,0,1810:0.475:99 chr6 158613910 rs9457163 G A 603.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.188;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=47.4846;MQ=42.66;MQ0=0;MQRankSum=-0.579;QD=9.43;ReadPosRankSum=0.216;SB=-231.73;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:37,26:64:99:634,0,1057:0.413:99 chr6 158613937 . CA CAAA,C 261.12 PASS AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=1.151;DP=76;FS=1.407;HaplotypeScore=561.3197;MQ=33.41;MQ0=0;MQRankSum=-0.890;QD=3.44;ReadPosRankSum=-0.083;SB=-121.99;TI=NM_207118;GI=GTF2H5;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:42,2,9:76:99:339,202,863,125,0,318:0.208:99 chr6 158614854 . T A 48.79 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.204;DP=76;Dels=0.00;FS=27.281;HRun=1;HaplotypeScore=12.5924;MQ=44.46;MQ0=0;MQRankSum=-3.952;QD=0.64;ReadPosRankSum=-3.575;SB=-0.01;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:69,7:76:78.78:79,0,1644:0.092:48 chr6 158614856 . T A 35.04 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.503;DP=76;Dels=0.00;FS=26.245;HRun=1;HaplotypeScore=13.4865;MQ=44.46;MQ0=0;MQRankSum=-3.718;QD=0.46;ReadPosRankSum=-3.467;SB=-0.01;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:69,7:76:65.03:65,0,1698:0.092:35 chr6 158614857 . T A 44.72 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.772;DP=76;Dels=0.00;FS=26.671;HRun=5;HaplotypeScore=11.5957;MQ=44.46;MQ0=0;MQRankSum=-4.185;QD=0.59;ReadPosRankSum=-3.467;SB=-0.01;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:69,7:76:74.71:75,0,1685:0.092:44 chr6 158614863 . T A 53.56 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.148;DP=75;Dels=0.00;FS=26.245;HRun=5;HaplotypeScore=8.9135;MQ=44.21;MQ0=0;MQRankSum=-3.916;QD=0.71;ReadPosRankSum=-3.953;SB=-0.01;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:67,7:75:83.56:84,0,1645:0.095:53 chr6 158614865 . C A 58.79 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.190;DP=73;Dels=0.00;FS=26.131;HRun=6;HaplotypeScore=8.9135;MQ=44.39;MQ0=0;MQRankSum=-3.935;QD=0.81;ReadPosRankSum=-4.201;SB=-0.01;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:65,7:73:88.78:89,0,1536:0.097:58 chr6 158615020 . C CA 211.10 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.138;DP=80;FS=2.407;HRun=21;HaplotypeScore=524.6042;MQ=41.38;MQ0=0;MQRankSum=1.866;QD=2.64;ReadPosRankSum=-1.606;SB=-113.35;TI=NM_207118;GI=GTF2H5;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,16:79:99:250,0,337:0.296:99 chr6 158615926 rs1019682 A T 2440.54 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.850;DP=225;Dels=0.00;FS=1.042;HRun=5;HaplotypeScore=17.3608;MQ=56.77;MQ0=0;MQRankSum=0.476;QD=10.85;ReadPosRankSum=1.613;SB=-1599.56;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:122,103:225:99:2471,0,2964:0.458:99 chr6 158616173 . CT C 352.00 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.480;DP=105;FS=0.000;HRun=15;HaplotypeScore=371.1502;MQ=53.23;MQ0=0;MQRankSum=2.197;QD=3.35;ReadPosRankSum=-0.033;SB=-194.03;TI=NM_207118;GI=GTF2H5;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:55,24:105:99:391,0,1003:0.304:99 chr6 158616335 rs10946159 A C 2047.94 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.918;DP=150;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=13.5119;MQ=57.28;MQ0=0;MQRankSum=1.575;QD=13.65;ReadPosRankSum=0.397;SB=-448.92;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:77,72:150:99:2078,0,2243:0.483:99 chr6 158616727 rs1047876 C T 2952.77 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.698;DP=308;Dels=0.00;FS=5.369;HRun=0;HaplotypeScore=14.7393;MQ=53.23;MQ0=0;MQRankSum=0.719;QD=9.59;ReadPosRankSum=-2.594;SB=-1692.35;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:182,126:308:99:2983,0,4205:0.409:99 chr6 158619039 rs1570219 A C 3524.94 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.142;DP=307;Dels=0.00;FS=3.770;HRun=0;HaplotypeScore=14.5993;MQ=53.51;MQ0=0;MQRankSum=-0.426;QD=11.48;ReadPosRankSum=0.163;SB=-2532.05;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:151,156:307:99:3525,0,3418:0.508:99 chr6 158619409 rs599345 G A 11194.88 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.732;DP=424;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=27.7165;MQ=50.72;MQ0=0;MQRankSum=2.581;QD=26.40;ReadPosRankSum=-0.912;SB=-6635.34;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,420:424:99:11195,784,0:0.993:99 chr6 158619713 rs615107 C G 1876.25 PASS AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=56.40;MQ0=0;QD=32.92;SB=-432.29;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,57:57:99:1909,144,0:1.000:99 chr6 158620285 rs1128568 A G 1658.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.479;DP=153;Dels=0.00;FS=2.037;HRun=1;HaplotypeScore=3.5764;MQ=49.53;MQ0=0;MQRankSum=1.048;QD=10.84;ReadPosRankSum=-0.518;SB=-1075.72;TI=NM_207118;GI=GTF2H5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:82,71:153:99:1688,0,2126:0.464:99 chr6 161132830 rs1830519 G A 3425.29 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.384;DP=256;Dels=0.00;FS=1.569;HRun=1;HaplotypeScore=15.3515;MQ=52.29;MQ0=0;MQRankSum=1.123;QD=13.38;ReadPosRankSum=-1.143;SB=-1656.33;TI=NM_001168338,NM_000301;GI=PLG,PLG;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:122,133:256:99:3425,0,3149:0.522:99 chr6 161137779 rs14224 T C 3865.61 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.750;DP=291;Dels=0.00;FS=1.482;HRun=0;HaplotypeScore=18.6845;MQ=54.75;MQ0=0;MQRankSum=1.294;QD=13.28;ReadPosRankSum=-1.301;SB=-1812.29;TI=NM_000301;GI=PLG;FC=Synonymous_C257C;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:133,157:291:99:3866,0,3362:0.541:99 chr6 161139480 rs1130656 C T 3403.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.811;DP=366;Dels=0.00;FS=6.995;HRun=2;HaplotypeScore=19.9154;MQ=47.57;MQ0=0;MQRankSum=0.014;QD=9.30;ReadPosRankSum=-0.019;SB=-2489.20;TI=NM_000301;GI=PLG;FC=Synonymous_F314F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:202,162:366:99:3404,0,4594:0.445:99 chr6 161162392 . A G 6473.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.427;DP=601;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=31.4627;MQ=51.00;MQ0=28;MQRankSum=1.672;QD=10.77;ReadPosRankSum=-3.047;SB=-4281.05;TI=NM_000301;GI=PLG;FC=Missense_N690D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:299,301:601:99:6474,0,6252:0.502:99 chr6 161162406 rs4252170 T C 6310.43 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.602;DP=571;Dels=0.00;FS=0.630;HRun=1;HaplotypeScore=18.2757;MQ=52.75;MQ0=1;MQRankSum=4.995;QD=11.05;ReadPosRankSum=2.335;SB=-4172.69;TI=NM_000301;GI=PLG;FC=Synonymous_A694A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:292,277:571:99:6310,0,6440:0.487:99 chr6 161173946 rs11060 T G 3164.31 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.676;DP=190;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=33.95;MQ0=66;MQRankSum=-0.112;QD=16.65;ReadPosRankSum=0.419;SB=-1848.14;TI=NM_000301;GI=PLG;FC=Synonymous_G762G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,189:190:99:3197,212,0:0.995:99 chr6 161174138 rs6690;rs57037765 A G 1260.82 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.954;DP=264;Dels=0.00;FS=6.990;HRun=2;HaplotypeScore=3.7676;MQ=12.13;MQ0=215;MQRankSum=2.100;QD=4.78;ReadPosRankSum=-2.428;SB=-219.85;TI=NM_000301;GI=PLG;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:115,149:264:86.87:1294,87,0:0.564:86 chr6 161174377 rs4252177 AT A 11280.26 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.503;DP=311;FS=0.000;HRun=5;HaplotypeScore=253.7661;MQ=49.72;MQ0=0;MQRankSum=1.264;QD=36.27;ReadPosRankSum=1.758;SB=-4635.71;TI=NM_000301;GI=PLG;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:8,296:310:99:11280,822,0:0.974:99 chr6 161174579 rs783169 T C 7893.67 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.561;DP=419;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=20.8522;MQ=41.00;MQ0=97;MQRankSum=0.642;QD=18.84;ReadPosRankSum=1.166;SB=-5169.60;TI=NM_000301;GI=PLG;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:63,355:419:99:7894,524,0:0.849:99 chr6 161174594 rs783168 A G 6632.87 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.278;DP=373;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.7604;MQ=39.97;MQ0=111;MQRankSum=-0.225;QD=17.78;ReadPosRankSum=-1.097;SB=-4394.44;TI=NM_000301;GI=PLG;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:70,303:373:99:6633,438,0:0.812:99 chr6 161174658 rs783167;rs80294183 G A 3804.42 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.705;DP=201;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.1832;MQ=37.48;MQ0=73;MQRankSum=1.678;QD=18.93;ReadPosRankSum=1.705;SB=-1872.60;TI=NM_000301;GI=PLG;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:54,147:201:99:3804,280,0:0.731:99 chr6 161174871 rs11902 C G 6412.22 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.410;DP=229;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.7891;MQ=51.23;MQ0=0;MQRankSum=1.656;QD=28.00;ReadPosRankSum=-1.003;SB=-3841.51;TI=NM_000301;GI=PLG;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,227:229:99:6412,439,0:0.996:99 chr7 192979 . C G 35.63 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=29.00;MQ0=0;QD=17.81;SB=-0.01;TI=NM_020223;GI=FAM20C;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.02:67,6,0:1.000:6 chr7 192982 . A G 35.63 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=29.00;MQ0=0;QD=17.81;SB=-0.01;TI=NM_020223;GI=FAM20C;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.02:67,6,0:1.000:6 chr7 192986 . G C 35.63 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=29.00;MQ0=0;QD=17.81;SB=-0.01;TI=NM_020223;GI=FAM20C;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:6.02:67,6,0:1.000:6 chr7 193057 . G A 21.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.572;DP=8;Dels=0.00;FS=3.332;HRun=0;HaplotypeScore=3.9933;MQ=35.17;MQ0=0;MQRankSum=-1.589;QD=2.73;ReadPosRankSum=-0.572;SB=-0.01;TI=NM_020223;GI=FAM20C;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,2:8:51.82:52,0,119:0.250:21 chr7 193348 . A C 67.89 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.670;DP=13;Dels=0.00;FS=10.925;HRun=1;HaplotypeScore=1.9956;MQ=37.00;MQ0=0;MQRankSum=-1.991;QD=5.22;ReadPosRankSum=-2.927;SB=-0.01;TI=NM_020223;GI=FAM20C;FC=Missense_Q50P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,5:13:97.88:98,0,204:0.385:67 chr7 193355 . C G 92.34 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.226;DP=14;Dels=0.00;FS=10.925;HRun=1;HaplotypeScore=1.9956;MQ=36.48;MQ0=0;MQRankSum=-1.872;QD=6.60;ReadPosRankSum=2.001;SB=-0.01;TI=NM_020223;GI=FAM20C;FC=Synonymous_A52A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,6:14:99:122,0,198:0.429:92 chr7 193362 . G C 129.03 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.248;DP=9;Dels=0.00;FS=9.700;HRun=0;HaplotypeScore=1.9663;MQ=34.69;MQ0=0;MQRankSum=-2.054;QD=14.34;ReadPosRankSum=2.054;SB=0.55;TI=NM_020223;GI=FAM20C;FC=Missense_V55L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,6:9:61.34:159,0,61:0.667:61 chr7 193363 . T C 131.10 LowGQ;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.742;DP=7;Dels=0.00;FS=7.782;HRun=0;HaplotypeScore=1.9330;MQ=34.00;MQ0=0;MQRankSum=-0.742;QD=18.73;ReadPosRankSum=0.742;SB=-2.93;TI=NM_020223;GI=FAM20C;FC=Missense_V55A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,6:7:16.77:161,0,17:0.857:16 chr7 193369 . C A 75.99 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=12.67;SB=-0.01;TI=NM_020223;GI=FAM20C;FC=Missense_A57E;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,6:6:12:108,12,0:1.000:12 chr7 193375 . G C 42.14 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.170;DP=17;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9330;MQ=39.29;MQ0=0;MQRankSum=-2.321;QD=2.48;ReadPosRankSum=2.095;SB=-0.01;TI=NM_020223;GI=FAM20C;FC=Missense_G59A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,4:17:72.13:72,0,320:0.235:42 chr7 286402 . A G 12173.16 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.993;DP=474;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=28.5588;MQ=47.45;MQ0=0;MQRankSum=0.521;QD=25.68;ReadPosRankSum=-0.687;SB=-8180.99;TI=NM_020223;GI=FAM20C;FC=Synonymous_T295T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,471:474:99:12173,846,0:0.996:99 chr7 297023 . G A 4968.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.450;DP=415;Dels=0.00;FS=2.088;HRun=0;HaplotypeScore=29.8848;MQ=52.16;MQ0=0;MQRankSum=1.942;QD=11.97;ReadPosRankSum=1.573;SB=-3431.95;TI=NM_020223;GI=FAM20C;FC=Synonymous_T472T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:189,224:415:99:4968,0,3991:0.542:99 chr7 299850 rs36170987 G T 337.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.190;DP=32;Dels=0.00;FS=11.812;HRun=1;HaplotypeScore=0.0000;MQ=54.86;MQ0=0;MQRankSum=-1.964;QD=10.54;ReadPosRankSum=-1.699;SB=-206.27;TI=NM_020223;GI=FAM20C;FC=Synonymous_V553V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,17:32:99:367,0,431:0.531:99 chr7 299872 . G A 267.86 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.421;DP=29;Dels=0.00;FS=1.536;HRun=0;HaplotypeScore=1.7262;MQ=56.22;MQ0=0;MQRankSum=-0.244;QD=9.24;ReadPosRankSum=0.066;SB=-157.31;TI=NM_020223;GI=FAM20C;FC=Missense_V561M;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:17,12:29:99:298,0,404:0.414:99 chr7 299881 rs36139924 A G 373.66 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.034;DP=34;Dels=0.00;FS=3.192;HRun=2;HaplotypeScore=1.6643;MQ=54.43;MQ0=0;MQRankSum=-1.274;QD=10.99;ReadPosRankSum=-0.413;SB=-191.46;TI=NM_020223;GI=FAM20C;FC=Missense_N564D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:17,17:34:99:404,0,416:0.500:99 chr7 299987 rs36138803 C G 1732.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-2.144;DP=157;Dels=0.00;FS=3.894;HRun=2;HaplotypeScore=7.2817;MQ=48.87;MQ0=0;MQRankSum=1.715;QD=11.03;ReadPosRankSum=-0.392;SB=-1020.40;TI=NM_020223;GI=FAM20C;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:80,77:157:99:1762,0,1898:0.490:99 chr7 300513 rs1134015 T C 1102.09 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.579;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6789;MQ=55.90;MQ0=0;MQRankSum=1.848;QD=16.21;ReadPosRankSum=-0.112;SB=-593.57;TI=NM_020223;GI=FAM20C;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,39:68:99:1132,0,670:0.574:99 chr7 22980929 rs35708583 A AAC 4257.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.017;DP=244;FS=9.457;HRun=0;HaplotypeScore=188.6808;MQ=53.97;MQ0=1;MQRankSum=3.702;QD=17.45;ReadPosRankSum=0.597;SB=-1744.76;TI=NM_032581;GI=FAM126A;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:147,95:242:99:4257,0,6826:0.393:99 chr7 22981404 rs34683819 T G 3852.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.089;DP=402;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=15.6173;MQ=49.64;MQ0=0;MQRankSum=-0.365;QD=9.58;ReadPosRankSum=1.832;SB=-2746.49;TI=NM_032581;GI=FAM126A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:227,174:402:99:3852,0,5107:0.434:99 chr7 22981528 rs3815348 T C 2800.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.400;DP=187;Dels=0.00;FS=2.624;HRun=1;HaplotypeScore=14.8321;MQ=56.24;MQ0=0;MQRankSum=3.314;QD=14.98;ReadPosRankSum=-0.165;SB=-1381.70;TI=NM_032581;GI=FAM126A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:81,106:187:99:2830,0,2079:0.567:99 chr7 22982547 rs13222017 G A 164.07 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.831;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8100;MQ=50.38;MQ0=0;MQRankSum=-0.380;QD=13.67;ReadPosRankSum=1.000;SB=-40.01;TI=NM_032581;GI=FAM126A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,7:12:99:194,0,157:0.583:99 chr7 22983600 rs10488277 T C 3089.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.057;DP=237;Dels=0.00;FS=1.686;HRun=0;HaplotypeScore=20.6821;MQ=56.44;MQ0=0;MQRankSum=1.593;QD=13.04;ReadPosRankSum=1.759;SB=-1285.11;TI=NM_032581;GI=FAM126A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:118,118:237:99:3120,0,2863:0.500:99 chr7 22983702 rs4607514 A T 8763.55 PASS AC=2;AF=1.00;AN=2;DP=329;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.3660;MQ=47.74;MQ0=0;QD=26.64;SB=-5405.23;TI=NM_032581;GI=FAM126A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,328:329:99:8764,626,0:1.000:99 chr7 22983890 rs1583511 T C 7065.27 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.485;DP=269;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.2573;MQ=46.08;MQ0=0;MQRankSum=-0.794;QD=26.26;ReadPosRankSum=0.365;SB=-4547.61;TI=NM_032581;GI=FAM126A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,265:269:99:7065,470,0:0.996:99 chr7 22984772 rs10085448 A C 2110.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.586;DP=178;Dels=0.00;FS=5.374;HRun=1;HaplotypeScore=13.9769;MQ=52.19;MQ0=0;MQRankSum=1.610;QD=11.86;ReadPosRankSum=0.227;SB=-1292.05;TI=NM_032581;GI=FAM126A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:98,80:178:99:2141,0,2449:0.449:99 chr7 22984773 rs60273851 G A 2083.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.429;DP=192;Dels=0.01;FS=4.290;HRun=1;HaplotypeScore=19.7528;MQ=51.75;MQ0=0;MQRankSum=2.806;QD=10.85;ReadPosRankSum=0.659;SB=-1255.95;TI=NM_032581;GI=FAM126A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:108,83:191:99:2113,0,2725:0.435:99 chr7 22984824 rs2286494 T C 9097.15 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.712;DP=341;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=22.6435;MQ=47.49;MQ0=0;MQRankSum=1.610;QD=26.68;ReadPosRankSum=1.610;SB=-5715.86;TI=NM_032581;GI=FAM126A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,339:341:99:9097,653,0:0.997:99 chr7 22984967 rs2286493 A G 3394.52 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.339;DP=302;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=35.5769;MQ=53.53;MQ0=0;MQRankSum=0.580;QD=11.24;ReadPosRankSum=-2.024;SB=-2123.94;TI=NM_032581;GI=FAM126A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:155,146:302:99:3395,0,4017:0.485:99 chr7 22985010 rs2286492 A C 4201.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.632;DP=384;Dels=0.00;FS=2.712;HRun=0;HaplotypeScore=21.7943;MQ=52.90;MQ0=0;MQRankSum=-1.084;QD=10.94;ReadPosRankSum=0.713;SB=-2993.28;TI=NM_032581;GI=FAM126A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:198,186:384:99:4201,0,4614:0.484:99 chr7 23015831 rs3735231 T C 10005.46 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.419;DP=862;Dels=0.00;FS=2.356;HRun=0;HaplotypeScore=38.5876;MQ=50.91;MQ0=0;MQRankSum=1.708;QD=11.61;ReadPosRankSum=2.882;SB=-6630.42;TI=NM_032581;GI=FAM126A;FC=Synonymous_S208S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:440,421:862:99:10005,0,10127:0.489:99 chr7 50526219 rs11575553 G A 8281.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=5.763;DP=686;Dels=0.00;FS=1.210;HRun=0;HaplotypeScore=42.5167;MQ=52.95;MQ0=0;MQRankSum=2.678;QD=12.07;ReadPosRankSum=1.699;SB=-5115.86;TI=NM_000790,NM_001082971;GI=DDC,DDC;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:333,353:686:99:8282,0,7624:0.515:99 chr7 50611735 rs6264 T C 7596.64 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.708;DP=289;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3645;MQ=49.29;MQ0=0;MQRankSum=0.689;QD=26.29;ReadPosRankSum=0.773;SB=-5164.87;TI=NM_000790,NM_001082971;GI=DDC,DDC;FC=Missense_M17V,Missense_M17V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,288:289:99:7597,536,0:0.997:99 chr7 50628739 rs3837091 CCTCT C 18834.57 PASS AC=2;AF=1.00;AN=2;DP=300;FS=0.000;HRun=0;HaplotypeScore=166.3596;MQ=50.75;MQ0=1;QD=62.78;SB=-8460.96;TI=NM_000790,NM_001082971;GI=DDC,DDC;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:10,288:299:99:18835,870,0:0.966:99 chr7 65425894 rs9530 A G 9421.96 PASS AC=2;AF=1.00;AN=2;DP=370;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=18.0980;MQ=48.84;MQ0=0;QD=25.46;SB=-6936.37;TI=NM_000181;GI=GUSB;FC=Missense_L649P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,370:370:99:9422,671,0:1.000:99 chr7 65429359 rs1061361;rs41406646 G A 7619.35 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=5.216;DP=743;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=23.8178;MQ=48.61;MQ0=13;MQRankSum=0.850;QD=10.25;ReadPosRankSum=-1.178;SB=-5347.26;TI=NM_000181;GI=GUSB;FC=Synonymous_Y580Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:399,344:743:99:7619,0,8795:0.463:99 chr7 65558164 rs465359 C T 1676.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.055;DP=158;Dels=0.00;FS=5.917;HRun=0;HaplotypeScore=12.5348;MQ=51.22;MQ0=0;MQRankSum=-0.248;QD=10.61;ReadPosRankSum=0.766;SB=-934.73;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 0/1:87,71:158:99:1706,0,1987:0.449:99 chr7 65558167 rs462853 G C 2039.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.373;DP=175;Dels=0.01;FS=5.448;HRun=0;HaplotypeScore=21.1214;MQ=50.55;MQ0=0;MQRankSum=-1.617;QD=11.65;ReadPosRankSum=-0.632;SB=-1191.72;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 0/1:89,85:174:99:2069,0,2041:0.489:99 chr7 65558186 rs160644 C T 3059.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.970;DP=268;Dels=0.00;FS=4.196;HRun=1;HaplotypeScore=17.7660;MQ=47.67;MQ0=0;MQRankSum=-0.732;QD=11.41;ReadPosRankSum=0.948;SB=-1514.17;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 0/1:139,129:268:99:3089,0,3276:0.481:99 chr7 65558222 rs160643 G A 4167.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.624;DP=353;Dels=0.00;FS=4.855;HRun=0;HaplotypeScore=19.1582;MQ=48.64;MQ0=0;MQRankSum=-0.684;QD=11.81;ReadPosRankSum=0.183;SB=-2112.94;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 0/1:180,173:353:99:4167,0,4140:0.490:99 chr7 75609677 rs1135612 A G 3938.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.885;DP=386;Dels=0.00;FS=2.163;HRun=1;HaplotypeScore=20.0921;MQ=49.18;MQ0=0;MQRankSum=-0.924;QD=10.20;ReadPosRankSum=-1.525;SB=-2814.30;TI=NM_000941;GI=POR;FC=Synonymous_P129P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:197,189:386:99:3938,0,4306:0.490:99 chr7 75614953 rs2228104 T C 9330.49 PASS AC=2;AF=1.00;AN=2;DP=353;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=28.6231;MQ=48.96;MQ0=0;QD=26.43;SB=-5669.29;TI=NM_000941;GI=POR;FC=Synonymous_A485A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,352:353:99:9330,668,0:1.000:99 chr7 75615006 rs1057868 C T 3650.09 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.550;DP=307;Dels=0.00;FS=1.911;HRun=0;HaplotypeScore=11.6859;MQ=51.90;MQ0=0;MQRankSum=2.126;QD=11.89;ReadPosRankSum=-0.874;SB=-2350.85;TI=NM_000941;GI=POR;FC=Missense_A503V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:149,158:307:99:3650,0,3295:0.515:99 chr7 75616105 rs17685 G A 3685.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.041;DP=329;Dels=0.00;FS=0.400;HRun=0;HaplotypeScore=13.4528;MQ=48.73;MQ0=0;MQRankSum=0.165;QD=11.20;ReadPosRankSum=1.214;SB=-2753.89;TI=NM_000941;GI=POR;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:156,173:329:99:3685,0,3449:0.526:99 chr7 92131289 rs10278857 G T 17944.80 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.348;DP=634;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=47.3129;MQ=52.18;MQ0=0;MQRankSum=1.334;QD=28.30;ReadPosRankSum=-0.476;SB=-9985.26;TI=NM_000466;GI=PEX1;FC=Synonymous_G777G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,629:634:99:17945,1309,0:0.997:99 chr7 92132493 rs35996821 T C 4676.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.199;DP=503;Dels=0.00;FS=1.448;HRun=0;HaplotypeScore=16.0936;MQ=49.84;MQ0=0;MQRankSum=1.034;QD=9.30;ReadPosRankSum=0.949;SB=-3192.97;TI=NM_000466;GI=PEX1;FC=Missense_I696M;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:281,221:503:99:4676,0,5979:0.440:99 chr7 94027699 rs1801182 T C 11685.16 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.806;DP=468;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=31.2920;MQ=52.06;MQ0=0;MQRankSum=0.134;QD=24.97;ReadPosRankSum=-0.465;SB=-8400.40;TI=NM_000089;GI=COL1A2;FC=Synonymous_T29T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,465:467:99:11685,759,0:0.996:99 chr7 94030899 rs1800222 T C 4223.79 PASS AC=2;AF=1.00;AN=2;DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.3054;MQ=49.17;MQ0=0;QD=25.44;SB=-2919.81;TI=NM_000089;GI=COL1A2;FC=Synonymous_D82D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,165:166:99:4224,307,0:1.000:99 chr7 94040397 . C T 43.53 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=27.03;MQ0=0;MQRankSum=-0.358;QD=8.71;ReadPosRankSum=-1.231;SB=-0.01;TI=NM_000089;GI=COL1A2;FC=Synonymous_G427G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,3:5:48.04:74,0,48:0.600:43 chr7 94040399 . C T 35.78 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DP=5;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9894;MQ=27.03;MQ0=0;MQRankSum=0.358;QD=7.16;ReadPosRankSum=-1.231;SB=-0.01;TI=NM_000089;GI=COL1A2;FC=Missense_P428L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,3:5:51.86:66,0,52:0.600:35 chr7 94040401 . G C 43.52 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.231;DP=5;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9894;MQ=27.03;MQ0=0;MQRankSum=-0.358;QD=8.70;ReadPosRankSum=-1.231;SB=-0.01;TI=NM_000089;GI=COL1A2;FC=Missense_A429P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,3:5:51.85:74,0,52:0.600:43 chr7 94043239 rs42524 C G 10858.64 PASS AC=2;AF=1.00;AN=2;DP=452;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.8152;MQ=45.52;MQ0=0;QD=24.02;SB=-8311.13;TI=NM_000089;GI=COL1A2;FC=Missense_P549A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,451:452:99:10859,752,0:1.000:99 chr7 94047050 rs1800238 G T 4909.41 PASS AC=2;AF=1.00;AN=2;DP=199;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4156;MQ=48.97;MQ0=0;QD=24.67;SB=-3350.30;TI=NM_000089;GI=COL1A2;FC=Synonymous_V626V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,199:199:99:4909,343,0:1.000:99 chr7 103112862 rs7811262 C T 4383.38 PASS AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4920;MQ=55.34;MQ0=0;QD=30.87;SB=-2371.70;TI=NM_005045,NM_173054;GI=RELN,RELN;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,142:142:99:4383,325,0:1.000:99 chr7 103155705 rs2229864 A G 862.14 PASS AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=50.05;MQ0=0;QD=26.94;SB=-401.99;TI=NM_005045,NM_173054;GI=RELN,RELN;FC=Synonymous_H2682H,Synonymous_H2682H;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,32:32:66.21:895,66,0:1.000:66 chr7 103155864 rs56345626 A G 2519.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.135;DP=246;Dels=0.00;FS=1.567;HRun=2;HaplotypeScore=10.8991;MQ=46.08;MQ0=0;MQRankSum=-0.551;QD=10.24;ReadPosRankSum=-0.084;SB=-1798.41;TI=NM_005045,NM_173054;GI=RELN,RELN;FC=Synonymous_P2629P,Synonymous_P2629P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:131,115:246:99:2549,0,2684:0.467:99 chr7 103180872 rs2075043 A G 2854.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.041;DP=325;Dels=0.00;FS=0.857;HRun=0;HaplotypeScore=20.7339;MQ=48.69;MQ0=0;MQRankSum=1.301;QD=8.78;ReadPosRankSum=-0.060;SB=-1870.80;TI=NM_005045,NM_173054;GI=RELN,RELN;FC=Synonymous_C2234C,Synonymous_C2234C;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:190,134:325:99:2885,0,4210:0.414:99 chr7 103236921 . G A 6235.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.187;DP=498;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=24.8668;MQ=50.14;MQ0=0;MQRankSum=1.981;QD=12.52;ReadPosRankSum=1.118;SB=-4136.77;TI=NM_005045,NM_173054;GI=RELN,RELN;FC=Missense_S1174L,Missense_S1174L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:226,271:498:99:6235,0,5117:0.545:99 chr7 103251161 rs362691 G C 9205.13 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.240;DP=751;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=31.9164;MQ=49.62;MQ0=0;MQRankSum=3.026;QD=12.26;ReadPosRankSum=1.496;SB=-6681.14;TI=NM_005045,NM_173054;GI=RELN,RELN;FC=Missense_L997V,Missense_L997V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:345,404:751:99:9205,0,7707:0.539:99 chr7 107559732 rs17154615 G T 9938.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.814;DP=848;Dels=0.00;FS=2.802;HRun=1;HaplotypeScore=57.0989;MQ=53.81;MQ0=0;MQRankSum=3.327;QD=11.72;ReadPosRankSum=-0.147;SB=-5367.27;TI=NM_000108;GI=DLD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:456,392:848:99:9939,0,11785:0.462:99 chr7 107559911 rs4564 G A 8788.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.518;DP=660;Dels=0.00;FS=0.580;HRun=0;HaplotypeScore=27.1511;MQ=52.82;MQ0=0;MQRankSum=4.206;QD=13.32;ReadPosRankSum=-0.993;SB=-5341.19;TI=NM_000108;GI=DLD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:319,340:660:99:8789,0,7902:0.516:99 chr7 107560191 rs4518 C T 9406.99 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=5.490;DP=749;Dels=0.00;FS=3.819;HRun=0;HaplotypeScore=32.1194;MQ=53.69;MQ0=0;MQRankSum=1.816;QD=12.56;ReadPosRankSum=1.330;SB=-6352.49;TI=NM_000108;GI=DLD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:351,397:749:99:9407,0,8206:0.531:99 chr7 107560682 rs2158835 T C 6138.61 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.918;DP=533;Dels=0.00;FS=1.795;HRun=0;HaplotypeScore=22.7323;MQ=52.06;MQ0=0;MQRankSum=2.440;QD=11.52;ReadPosRankSum=0.673;SB=-3854.85;TI=NM_000108;GI=DLD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:279,253:533:99:6139,0,6521:0.476:99 chr7 107561155 rs2108223 T C 6538.12 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.952;DP=548;Dels=0.00;FS=0.994;HRun=2;HaplotypeScore=37.3211;MQ=53.46;MQ0=0;MQRankSum=3.601;QD=11.93;ReadPosRankSum=-0.017;SB=-4226.98;TI=NM_000108;GI=DLD;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:269,278:548:99:6538,0,6618:0.508:99 chr7 117188736 rs4727853 C A 820.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.831;DP=544;Dels=0.00;FS=0.482;HRun=2;HaplotypeScore=26.2003;MQ=46.61;MQ0=43;MQRankSum=-12.041;QD=1.51;ReadPosRankSum=-1.696;SB=-378.29;TI=NM_000492;GI=CFTR;FC=Missense_N417K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:420,123:544:99:850,0,9487:0.227:99 chr7 117188750 . C T 134.61 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.587;DP=562;Dels=0.00;FS=1.276;HRun=2;HaplotypeScore=36.7678;MQ=46.16;MQ0=57;MQRankSum=-9.303;QD=0.24;ReadPosRankSum=4.059;SB=-0.01;TI=NM_000492;GI=CFTR;FC=Missense_S422F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:478,81:562:99:165,0,10325:0.145:99 chr7 117188797 rs74935724 A G 64.96 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.506;DP=655;Dels=0.00;FS=5.822;HRun=0;HaplotypeScore=24.4393;MQ=44.03;MQ0=136;MQRankSum=-9.982;QD=0.10;ReadPosRankSum=4.736;SB=-0.01;TI=NM_000492;GI=CFTR;FC=Missense_T438A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:552,101:654:94.95:95,0,11427:0.155:64 chr8 1711889 . A AG 336.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.806;DP=22;FS=1.837;HRun=6;HaplotypeScore=59.4379;MQ=57.20;MQ0=0;MQRankSum=1.803;QD=15.31;ReadPosRankSum=0.000;SB=-83.96;TI=NM_018941;GI=CLN8;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,13:22:99:376,0,251:0.591:99 chr8 1711918 rs71499040 G C 403.11 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.242;DP=36;Dels=0.00;FS=1.352;HRun=1;HaplotypeScore=3.3631;MQ=54.46;MQ0=0;MQRankSum=0.017;QD=11.20;ReadPosRankSum=0.381;SB=-220.85;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:16,19:36:99:433,0,316:0.543:99 chr8 1729217 rs11778824 C T 8575.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.979;DP=754;Dels=0.00;FS=1.140;HRun=2;HaplotypeScore=28.6784;MQ=50.72;MQ0=0;MQRankSum=3.239;QD=11.37;ReadPosRankSum=2.089;SB=-6450.64;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:360,394:754:99:8575,0,7621:0.523:99 chr8 1729514 rs1137514 A G 623.71 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.800;DP=89;Dels=0.00;FS=3.337;HRun=1;HaplotypeScore=31.0937;MQ=41.81;MQ0=0;MQRankSum=0.107;QD=7.01;ReadPosRankSum=0.141;SB=-209.17;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:57,32:89:99:654,0,1385:0.360:99 chr8 1729531 . CA C 261.41 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-2.324;DP=106;FS=5.686;HRun=21;HaplotypeScore=460.1021;MQ=43.21;MQ0=0;MQRankSum=-1.124;QD=2.47;ReadPosRankSum=1.618;SB=-136.55;TI=NM_018941;GI=CLN8;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:67,18:105:99:300,0,495:0.212:99 chr8 1729582 rs75602222 C CTGG 1679.35 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.659;DP=122;FS=1.643;HRun=0;HaplotypeScore=357.7736;MQ=43.63;MQ0=0;MQRankSum=-1.792;QD=13.77;ReadPosRankSum=-0.589;SB=-762.28;TI=NM_018941;GI=CLN8;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:90,30:121:99:1718,0,3650:0.250:99 chr8 1729701 . GT G 903.34 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.492;DP=399;FS=3.467;HRun=14;HaplotypeScore=719.9553;MQ=50.41;MQ0=0;MQRankSum=2.925;QD=2.26;ReadPosRankSum=-1.532;SB=-420.35;TI=NM_018941;GI=CLN8;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:251,70:399:99:942,0,5007:0.218:99 chr8 1731855 rs10089616 C T 6075.52 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.589;DP=444;Dels=0.00;FS=3.089;HRun=0;HaplotypeScore=25.6028;MQ=52.80;MQ0=0;MQRankSum=0.258;QD=13.68;ReadPosRankSum=-0.961;SB=-3431.45;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:194,250:444:99:6076,0,4656:0.563:99 chr8 1732224 rs10089222 G C 493.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.070;DP=49;Dels=0.00;FS=1.115;HRun=0;HaplotypeScore=8.2298;MQ=55.49;MQ0=0;MQRankSum=-0.955;QD=10.08;ReadPosRankSum=-1.759;SB=-280.93;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,22:49:99:524,0,763:0.449:99 chr8 1732450 . CA C 569.62 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.181;DP=175;FS=0.000;HRun=13;HaplotypeScore=448.2438;MQ=50.95;MQ0=0;MQRankSum=0.635;QD=3.25;ReadPosRankSum=0.073;SB=-265.73;TI=NM_018941;GI=CLN8;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:105,40:175:99:609,0,2219:0.276:99 chr8 1732580 rs7827009 C G 5267.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.388;DP=478;Dels=0.00;FS=2.363;HRun=0;HaplotypeScore=30.4407;MQ=49.96;MQ0=0;MQRankSum=0.303;QD=11.02;ReadPosRankSum=-0.274;SB=-3931.02;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:233,245:478:99:5267,0,5246:0.513:99 chr8 1732756 rs7827285 C A 5950.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.368;DP=664;Dels=0.00;FS=1.960;HRun=0;HaplotypeScore=34.3565;MQ=48.79;MQ0=0;MQRankSum=2.210;QD=8.96;ReadPosRankSum=1.198;SB=-4636.36;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:370,294:664:99:5951,0,8090:0.443:99 chr8 1733603 . G A 60.97 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.724;DP=451;Dels=0.00;FS=9.343;HRun=0;HaplotypeScore=88.2890;MQ=15.72;MQ0=273;MQRankSum=-0.243;QD=0.14;ReadPosRankSum=-0.945;SB=-0.01;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:411,34:450:90.97:91,0,1315:0.076:60 chr8 1733648 . G A 18.77 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.684;DP=313;Dels=0.00;FS=2.681;HRun=0;HaplotypeScore=57.3565;MQ=13.12;MQ0=198;MQRankSum=0.266;QD=0.06;ReadPosRankSum=2.280;SB=-0.01;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:279,30:313:48.71:49,0,831:0.097:18 chr8 1733701 rs11136425 A G 196.73 LowGQ;LowGQX AC=2;AF=1.00;AN=2;BaseQRankSum=4.297;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=83.9681;MQ=19.97;MQ0=18;MQRankSum=-3.663;QD=2.89;ReadPosRankSum=1.230;SB=-46.85;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:13,42:68:4.35:227,4,0:0.764:4 chr8 1734452 rs3812477 C G 6071.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.401;DP=490;Dels=0.00;FS=6.011;HRun=0;HaplotypeScore=29.7625;MQ=51.15;MQ0=0;MQRankSum=2.265;QD=12.39;ReadPosRankSum=1.976;SB=-3038.75;TI=NM_018941;GI=CLN8;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:243,247:490:99:6071,0,5915:0.504:99 chr8 15397820 rs12550009 C T 2068.43 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.064;DP=211;Dels=0.00;FS=1.726;HRun=0;HaplotypeScore=5.4153;MQ=50.86;MQ0=0;MQRankSum=3.295;QD=9.80;ReadPosRankSum=-0.074;SB=-1244.95;TI=NM_006765,NM_178234;GI=TUSC3,TUSC3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:114,97:211:99:2098,0,2456:0.460:99 chr8 27661030 . T TAATA 32428.36 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.689;DP=514;FS=3.511;HRun=0;HaplotypeScore=804.1820;MQ=55.40;MQ0=0;MQRankSum=1.398;QD=63.09;ReadPosRankSum=-0.331;SB=-14402.39;TI=NM_001017420;GI=ESCO2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:54,451:513:99:32428,1396,0:0.893:99 chr8 27661066 . T C 166.62 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.424;DP=390;Dels=0.00;FS=16.433;HRun=0;HaplotypeScore=52.9915;MQ=54.47;MQ0=0;MQRankSum=-4.660;QD=0.43;ReadPosRankSum=-4.471;SB=-0.01;TI=NM_001017420;GI=ESCO2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:355,35:390:99:197,0,9528:0.090:99 chr8 27661085 rs62498042 G A 7497.74 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=3.361;DP=245;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=19.7015;MQ=48.20;MQ0=0;MQRankSum=2.586;QD=30.60;ReadPosRankSum=0.544;SB=-3770.57;TI=NM_001017420;GI=ESCO2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:4,241:245:99:7498,590,0:0.984:99 chr8 27661318 rs72609983 C A 12761.73 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.506;DP=443;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.4182;MQ=51.94;MQ0=0;MQRankSum=0.685;QD=28.81;ReadPosRankSum=-1.467;SB=-8534.92;TI=NM_001017420;GI=ESCO2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,440:443:99:12762,874,0:0.995:99 chr8 27661380 rs72609984 G A 15654.18 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.382;DP=581;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=30.0694;MQ=50.30;MQ0=0;MQRankSum=0.053;QD=26.94;ReadPosRankSum=1.407;SB=-10458.98;TI=NM_001017420;GI=ESCO2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,579:581:99:15654,1123,0:0.997:99 chr8 27661421 . AT A 13974.09 R8 AC=2;AF=1.00;AN=2;BaseQRankSum=0.744;DP=539;FS=3.263;HRun=15;HaplotypeScore=4370.1070;MQ=51.55;MQ0=0;MQRankSum=1.492;QD=25.93;ReadPosRankSum=0.075;SB=-6138.65;TI=NM_001017420;GI=ESCO2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:43,468:539:99:13974,1396,0:0.916:99 chr8 27661426 . T A 11927.20 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.400;DP=534;Dels=0.00;FS=0.535;HRun=0;HaplotypeScore=535.7343;MQ=51.66;MQ0=0;MQRankSum=1.345;QD=22.34;ReadPosRankSum=1.125;SB=-7349.70;TI=NM_001017420;GI=ESCO2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:55,479:534:99:11927,0,398:0.897:99 chr8 38000267 rs3990403 T C 385.29 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.058;DP=45;Dels=0.00;FS=1.211;HRun=2;HaplotypeScore=0.0000;MQ=49.98;MQ0=0;MQRankSum=0.452;QD=8.56;ReadPosRankSum=-0.799;SB=-189.46;TI=NM_000349;GI=STAR;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,18:45:99:415,0,642:0.400:99 chr8 38000823 . ATTT A,ATT 315.10 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-2.804;DP=66;FS=0.000;HaplotypeScore=305.8866;MQ=46.00;MQ0=0;MQRankSum=0.200;QD=4.77;ReadPosRankSum=-0.599;SB=-116.10;TI=NM_000349;GI=STAR;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:25,6,3:65:47.48:393,131,718,47,0,127:0.265:47 chr8 38005835 rs2229620 T C 6906.34 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.719;DP=267;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=16.7304;MQ=48.15;MQ0=0;MQRankSum=-0.326;QD=25.87;ReadPosRankSum=-0.143;SB=-4897.14;TI=NM_000349;GI=STAR;FC=Synonymous_L63L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,265:266:99:6906,491,0:0.996:99 chr8 43052118 . G C 7200.23 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.294;DP=663;Dels=0.00;FS=0.904;HRun=1;HaplotypeScore=25.1875;MQ=50.79;MQ0=0;MQRankSum=2.829;QD=10.86;ReadPosRankSum=0.041;SB=-4583.65;TI=NM_152419;GI=HGSNAT;FC=Missense_A498P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:348,314:663:99:7200,0,7747:0.474:99 chr8 43054553 rs1126058 T C 13543.57 PASS AC=2;AF=1.00;AN=2;DP=526;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.4316;MQ=49.29;MQ0=0;QD=25.75;SB=-9578.95;TI=NM_152419;GI=HGSNAT;FC=Synonymous_Y583Y;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,526:526:99:13544,951,0:1.000:99 chr8 43056513 rs3739431 T C 2983.00 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.387;DP=118;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=17.1377;MQ=47.98;MQ0=0;MQRankSum=2.345;QD=25.28;ReadPosRankSum=0.198;SB=-2140.16;TI=NM_152419;GI=HGSNAT;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,116:118:99:3016,217,0:0.983:99 chr8 63972458 . C T 3330.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.253;DP=253;Dels=0.00;FS=5.995;HRun=0;HaplotypeScore=23.9532;MQ=53.14;MQ0=0;MQRankSum=0.130;QD=13.16;ReadPosRankSum=-1.231;SB=-1655.76;TI=NM_000370;GI=TTPA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:125,128:253:99:3330,0,3331:0.506:99 chr8 63972718 rs4587328 C T 16514.76 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.377;DP=533;Dels=0.00;FS=2.507;HRun=0;HaplotypeScore=23.7552;MQ=55.67;MQ0=0;MQRankSum=-0.395;QD=30.98;ReadPosRankSum=1.891;SB=-7912.63;TI=NM_000370;GI=TTPA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,529:533:99:16515,1174,0:0.994:99 chr8 63973232 . GAAA GA,G 17114.44 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-1.874;DP=431;FS=2.805;HaplotypeScore=870.7120;MQ=49.05;MQ0=0;MQRankSum=1.269;QD=39.71;ReadPosRankSum=-0.112;SB=-5280.87;TI=NM_000370;GI=TTPA;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:14,1,314:431:99:17114,9006,7795,1423,0,254:0.957:99 chr8 63998542 . C G 73.97 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.046;DP=36;Dels=0.00;FS=12.080;HRun=1;HaplotypeScore=0.0000;MQ=38.49;MQ0=0;MQRankSum=-3.568;QD=2.05;ReadPosRankSum=-1.967;SB=-0.01;TI=NM_000370;GI=TTPA;FC=Missense_Q13H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,5:36:99:104,0,646:0.139:73 chr8 63998549 . C A 83.00 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.671;DP=31;Dels=0.00;FS=11.826;HRun=0;HaplotypeScore=0.0000;MQ=37.79;MQ0=0;MQRankSum=-3.518;QD=2.68;ReadPosRankSum=-1.370;SB=-0.01;TI=NM_000370;GI=TTPA;FC=Missense_G11V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,5:31:99:113,0,518:0.161:83 chr8 63998551 . C T 83.00 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.671;DP=31;Dels=0.00;FS=12.366;HRun=0;HaplotypeScore=0.0000;MQ=37.79;MQ0=0;MQRankSum=-3.518;QD=2.68;ReadPosRankSum=-2.981;SB=-0.01;TI=NM_000370;GI=TTPA;FC=Synonymous_A10A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,5:31:99:113,0,527:0.161:83 chr8 63998558 . G C 48.77 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.477;DP=31;Dels=0.00;FS=9.717;HRun=0;HaplotypeScore=0.0000;MQ=37.79;MQ0=0;MQRankSum=-3.518;QD=1.57;ReadPosRankSum=-3.518;SB=-0.01;TI=NM_000370;GI=TTPA;FC=Missense_P8R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,5:31:78.76:79,0,526:0.161:48 chr8 75262798 rs7828201 G C 12616.16 PASS AC=2;AF=1.00;AN=2;DP=505;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=18.3614;MQ=49.56;MQ0=0;QD=24.98;SB=-9663.06;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Synonymous_S34S,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,505:505:99:12616,882,0:1.000:99 chr8 75274141 rs11554166 T G 8067.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.908;DP=789;Dels=0.00;FS=1.774;HRun=1;HaplotypeScore=47.2499;MQ=51.74;MQ0=0;MQRankSum=2.036;QD=10.23;ReadPosRankSum=0.810;SB=-5585.41;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Synonymous_S169S,Synonymous_S101S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:416,372:789:99:8068,0,9283:0.472:99 chr8 75277399 rs7007283 A G 15267.45 PASS AC=2;AF=1.00;AN=2;DP=569;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=21.0247;MQ=49.05;MQ0=0;QD=26.83;SB=-9503.97;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,569:569:99:15267,1087,0:1.000:99 chr8 75278457 rs6472842 A G 7042.14 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.537;DP=603;Dels=0.00;FS=1.323;HRun=0;HaplotypeScore=28.0470;MQ=53.25;MQ0=0;MQRankSum=1.696;QD=11.68;ReadPosRankSum=-1.180;SB=-3609.15;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:317,285:603:99:7042,0,8279:0.473:99 chr8 75278816 rs10504580 A G 8601.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.686;DP=729;Dels=0.00;FS=1.546;HRun=0;HaplotypeScore=46.3197;MQ=51.65;MQ0=0;MQRankSum=2.518;QD=11.80;ReadPosRankSum=-1.016;SB=-4475.83;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:365,364:729:99:8602,0,8601:0.499:99 chr8 75279333 rs71563287 C CAA,CA 3455.87 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-1.379;DP=267;FS=0.000;HaplotypeScore=813.7321;MQ=49.88;MQ0=0;MQRankSum=1.306;QD=12.94;ReadPosRankSum=-0.224;SB=-1139.08;TI=NM_018972,NM_001040875;GI=GDAP1,GDAP1;FC=Splicing,Splicing;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:77,94,54:265:99:3456,176,1100,1469,0,1734:0.658:99 chr8 90945833 rs14448 A G 4661.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.143;DP=337;Dels=0.00;FS=7.287;HRun=0;HaplotypeScore=35.0448;MQ=55.40;MQ0=0;MQRankSum=2.337;QD=13.83;ReadPosRankSum=0.195;SB=-2617.86;TI=NM_002485;GI=NBN;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:168,168:337:99:4662,0,4456:0.500:99 chr8 90946056 rs9995 A G 6484.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.179;DP=564;Dels=0.00;FS=3.128;HRun=0;HaplotypeScore=46.8256;MQ=51.64;MQ0=0;MQRankSum=-0.780;QD=11.50;ReadPosRankSum=0.434;SB=-3440.96;TI=NM_002485;GI=NBN;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:309,254:564:99:6485,0,8548:0.451:99 chr8 90946601 rs1063054 T G 9737.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=5.436;DP=813;Dels=0.00;FS=0.522;HRun=0;HaplotypeScore=39.6515;MQ=51.87;MQ0=0;MQRankSum=2.166;QD=11.98;ReadPosRankSum=-3.426;SB=-5744.94;TI=NM_002485;GI=NBN;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:416,395:813:99:9737,0,9784:0.487:99 chr8 90947269 rs2735383 C G 8735.65 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.173;DP=760;Dels=0.00;FS=0.263;HRun=0;HaplotypeScore=35.4132;MQ=50.93;MQ0=0;MQRankSum=-0.060;QD=11.49;ReadPosRankSum=-0.221;SB=-5967.19;TI=NM_002485;GI=NBN;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:368,390:760:99:8736,0,8590:0.515:99 chr8 90947537 rs1063053 C T 6927.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.131;DP=524;Dels=0.00;FS=1.413;HRun=0;HaplotypeScore=19.3657;MQ=53.65;MQ0=0;MQRankSum=4.341;QD=13.22;ReadPosRankSum=0.931;SB=-3581.10;TI=NM_002485;GI=NBN;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:261,263:524:99:6927,0,7176:0.502:99 chr8 90958422 rs1061302 T C 25549.74 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=3.768;DP=980;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=59.8420;MQ=52.41;MQ0=0;MQRankSum=1.784;QD=26.07;ReadPosRankSum=0.101;SB=-18393.49;TI=NM_002485;GI=NBN;FC=Synonymous_P672P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:5,972:980:99:25550,1821,0:0.995:99 chr8 90967711 rs709816 A G 15602.46 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.175;DP=552;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.3678;MQ=52.86;MQ0=0;MQRankSum=0.615;QD=28.27;ReadPosRankSum=-1.419;SB=-8559.27;TI=NM_002485;GI=NBN;FC=Synonymous_D399D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,550:552:99:15602,1100,0:0.996:99 chr8 90990479 rs1805794 C G 21438.27 PASS AC=2;AF=1.00;AN=2;DP=832;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=26.4981;MQ=51.52;MQ0=0;QD=25.77;SB=-15165.32;TI=NM_002485;GI=NBN;FC=Missense_E185Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,831:832:99:21438,1517,0:1.000:99 chr8 90995019 rs1063045 C T 21592.25 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.682;DP=829;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=39.1917;MQ=53.06;MQ0=0;MQRankSum=-0.113;QD=26.05;ReadPosRankSum=1.577;SB=-14570.80;TI=NM_002485;GI=NBN;FC=Synonymous_L34L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,824:829:99:21592,1456,0:0.996:99 chr8 94768006 . G T 65.09 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.975;DP=113;Dels=0.00;FS=42.740;HRun=0;HaplotypeScore=170.7718;MQ=34.97;MQ0=0;MQRankSum=-1.414;QD=0.58;ReadPosRankSum=-3.182;SB=-0.01;TI=NM_001142301,NM_153704,NR_024522;GI=TMEM67,TMEM67,TMEM67;FC=Silent,Unknown_75,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:84,22:113:95.08:95,0,1444:0.208:65 chr8 94808165 rs3134031 A G 15927.70 PASS AC=2;AF=1.00;AN=2;DP=552;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=31.1793;MQ=52.32;MQ0=0;QD=28.85;SB=-10482.65;TI=NM_001142301,NM_153704,NR_024522;GI=TMEM67,TMEM67,TMEM67;FC=Missense_I523V,Missense_I604V,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,552:552:99:15928,1165,0:1.000:99 chr8 94827660 rs16916221 A C 8130.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.003;DP=727;Dels=0.00;FS=0.265;HRun=1;HaplotypeScore=33.3772;MQ=52.71;MQ0=0;MQRankSum=1.876;QD=11.18;ReadPosRankSum=1.006;SB=-5622.20;TI=NM_001142301,NM_153704,NR_024522;GI=TMEM67,TMEM67,TMEM67;FC=Synonymous_T883T,Synonymous_T964T,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:380,346:727:99:8130,0,9070:0.477:99 chr8 94831346 rs3133973 G A 18264.13 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.597;DP=640;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=30.1073;MQ=54.73;MQ0=0;MQRankSum=0.585;QD=28.54;ReadPosRankSum=-1.014;SB=-8662.45;TI=NR_024522;GI=TMEM67;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,636:640:99:18264,1280,0:0.995:99 chr8 94935937 rs4735258 T C 7938.55 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.654;DP=311;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.1988;MQ=50.90;MQ0=0;MQRankSum=-0.295;QD=25.53;ReadPosRankSum=-0.072;SB=-5812.30;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 1/1:1,310:311:99:7939,563,0:0.997:99 chr8 94936532 rs911 G C 5279.40 PASS AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7824;MQ=57.66;MQ0=0;QD=35.20;SB=-2115.33;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 1/1:0,150:150:99:5279,391,0:1.000:99 chr8 97240747 . C T 8592.09 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.514;DP=714;Dels=0.00;FS=0.863;HRun=0;HaplotypeScore=42.2094;MQ=50.83;MQ0=0;MQRankSum=0.484;QD=12.03;ReadPosRankSum=-0.258;SB=-6274.46;TI=NM_001199975,NM_006294;GI=UQCRB,UQCRB;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:322,392:714:99:8592,0,7214:0.549:99 chr8 100733188 rs61753724 A G 4256.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.648;DP=392;Dels=0.00;FS=2.147;HRun=0;HaplotypeScore=15.9507;MQ=48.16;MQ0=0;MQRankSum=-2.171;QD=10.86;ReadPosRankSum=0.168;SB=-3195.14;TI=NM_017890,NM_152564;GI=VPS13B,VPS13B;FC=Synonymous_V2346V,Synonymous_V2321V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:187,205:392:99:4257,0,4140:0.523:99 chr8 100791156 rs7833870 T C 4979.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.446;DP=415;Dels=0.00;FS=1.618;HRun=0;HaplotypeScore=12.5388;MQ=49.39;MQ0=0;MQRankSum=-0.435;QD=12.00;ReadPosRankSum=0.615;SB=-3236.64;TI=NM_017890,NM_152564;GI=VPS13B,VPS13B;FC=Missense_V2584A,Missense_V2559A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:194,221:415:99:4980,0,4196:0.533:99 chr8 100865836 rs6468694 G A 4409.21 PASS AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1527;MQ=51.26;MQ0=0;QD=28.45;SB=-2852.09;TI=NM_017890,NM_152564;GI=VPS13B,VPS13B;FC=Missense_G3432R,Missense_G3407R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,155:155:99:4409,322,0:1.000:99 chr8 100888141 rs71572048 C CCAA 8642.45 PASS AC=2;AF=1.00;AN=2;DP=172;FS=0.000;HRun=0;HaplotypeScore=91.1640;MQ=53.16;MQ0=0;QD=50.25;SB=-4022.47;TI=NM_017890,NM_152564;GI=VPS13B,VPS13B;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:26,135:172:99:8642,452,0:0.839:99 chr8 100888322 rs10537000 CTAT C 12283.36 PASS AC=2;AF=1.00;AN=2;DP=215;FS=0.000;HRun=0;HaplotypeScore=173.8605;MQ=45.83;MQ0=0;QD=57.13;SB=-6055.46;TI=NM_017890,NM_152564;GI=VPS13B,VPS13B;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:4,211:215:99:12283,641,0:0.981:99 chr8 100888489 rs35963691 C CTT 6219.89 PASS AC=2;AF=1.00;AN=2;DP=135;FS=0.000;HRun=3;HaplotypeScore=224.4061;MQ=49.37;MQ0=0;QD=46.07;SB=-2377.10;TI=NM_017890,NM_152564;GI=VPS13B,VPS13B;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:13,121:135:99:6220,394,0:0.903:99 chr8 100888592 rs10542429 CTGA C 16675.12 PASS AC=2;AF=1.00;AN=2;DP=303;FS=0.000;HRun=0;HaplotypeScore=305.0481;MQ=46.33;MQ0=0;QD=55.03;SB=-8300.34;TI=NM_017890,NM_152564;GI=VPS13B,VPS13B;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:42,259:303:99:16675,888,0:0.860:99 chr8 100889677 rs7157 C T 5998.26 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.088;DP=200;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.4640;MQ=53.68;MQ0=0;MQRankSum=-1.227;QD=29.99;ReadPosRankSum=-0.131;SB=-3317.09;TI=NM_017890,NM_152564;GI=VPS13B,VPS13B;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,198:200:99:5998,411,0:0.995:99 chr8 103220351 rs59015244 A G 8366.14 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.695;DP=283;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=36.6355;MQ=52.39;MQ0=0;MQRankSum=1.523;QD=29.56;ReadPosRankSum=-0.123;SB=-5181.90;TI=NM_001172477,NM_001172478,NM_015713;GI=RRM2B,RRM2B,RRM2B;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,281:283:99:8366,614,0:0.996:99 chr8 119936330 . G GT 222.91 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.039;DP=237;FS=3.468;HRun=12;HaplotypeScore=450.8801;MQ=53.07;MQ0=0;MQRankSum=3.176;QD=0.94;ReadPosRankSum=-0.789;SB=-91.31;TI=NM_002546;GI=TNFRSF11B;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:172,33:237:99:262,0,3378:0.161:99 chr8 119964052 rs2073618 G C 2641.31 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.649;DP=273;Dels=0.00;FS=0.456;HRun=0;HaplotypeScore=18.9313;MQ=49.05;MQ0=0;MQRankSum=-0.101;QD=9.68;ReadPosRankSum=-0.668;SB=-1616.54;TI=NM_002546;GI=TNFRSF11B;FC=Missense_N3K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:148,124:273:99:2671,0,3280:0.456:99 chr8 141310644 rs12549048 G A 6769.33 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.507;DP=601;Dels=0.00;FS=0.293;HRun=0;HaplotypeScore=31.1411;MQ=51.77;MQ0=0;MQRankSum=1.316;QD=11.26;ReadPosRankSum=0.666;SB=-4771.09;TI=NM_001160372,NM_031466;GI=TRAPPC9,TRAPPC9;FC=Synonymous_N564N,Synonymous_N662N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:301,299:601:99:6769,0,6895:0.498:99 chr8 141461062 rs3735803 G A 2762.13 PASS AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.1058;MQ=55.73;MQ0=0;QD=28.48;SB=-1422.65;TI=NM_001160372,NM_031466;GI=TRAPPC9,TRAPPC9;FC=Synonymous_N137N,Synonymous_N235N;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,97:97:99:2795,205,0:1.000:99 chr8 141461185 rs63648764 A G 7106.69 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.605;DP=295;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.8805;MQ=45.94;MQ0=0;MQRankSum=1.591;QD=24.09;ReadPosRankSum=-0.992;SB=-5582.52;TI=NM_001160372,NM_031466;GI=TRAPPC9,TRAPPC9;FC=Synonymous_F96F,Synonymous_F194F;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,294:295:99:7107,460,0:0.997:99 chr8 141461266 rs3735801 A G 1935.77 PASS AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7041;MQ=55.52;MQ0=0;QD=27.26;SB=-1339.13;TI=NM_001160372,NM_031466;GI=TRAPPC9,TRAPPC9;FC=Synonymous_G69G,Synonymous_G167G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,70:71:99:1969,144,0:1.000:99 chr8 141467840 rs2948172 T G 2457.64 PASS AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.9969;MQ=48.80;MQ0=0;QD=25.08;SB=-1637.08;TI=NM_001160372,NM_031466;GI=TRAPPC9,TRAPPC9;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,98:98:99:2491,178,0:1.000:99 chr8 143953937 rs4736312 A C 5805.90 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.617;DP=181;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.5578;MQ=58.10;MQ0=0;MQRankSum=1.058;QD=32.08;ReadPosRankSum=1.251;SB=-3317.59;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,179:181:99:5806,408,0:0.994:99 chr8 143954223 rs1134096 C A 6549.86 PASS AC=2;AF=1.00;AN=2;DP=228;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=23.0896;MQ=52.17;MQ0=0;QD=28.73;SB=-4070.98;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,228:228:99:6550,481,0:1.000:99 chr8 143954290 rs1134095 G A 10174.92 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.677;DP=391;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=18.4057;MQ=47.13;MQ0=0;MQRankSum=1.225;QD=26.02;ReadPosRankSum=0.682;SB=-7246.09;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,385:390:99:10175,687,0:0.992:99 chr8 143954747 rs7003319 T C 6010.64 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.703;DP=235;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=13.1972;MQ=49.65;MQ0=0;MQRankSum=1.644;QD=25.58;ReadPosRankSum=-0.022;SB=-4290.71;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,234:235:99:6011,421,0:0.996:99 chr8 143954769 rs5017238 G A 3995.77 PASS AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5077;MQ=51.11;MQ0=0;QD=27.00;SB=-2445.01;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,148:148:99:3996,289,0:1.000:99 chr8 143955051 rs5304;rs72552270 C T 3727.30 PASS AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=14.8382;MQ=51.93;MQ0=10;QD=26.43;SB=-2214.51;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,138:141:99:3727,271,0:0.986:99 chr8 143955095 rs5303 A G 3084.05 PASS AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.6790;MQ=53.65;MQ0=0;QD=27.29;SB=-2137.46;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,113:113:99:3117,226,0:1.000:99 chr8 143955273 rs5301 T C 3472.19 PASS AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.8708;MQ=53.35;MQ0=0;QD=26.11;SB=-2247.22;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,133:133:99:3472,247,0:1.000:99 chr8 143955318 rs12543598 T G 1563.57 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.662;DP=50;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=12.7598;MQ=56.97;MQ0=0;MQRankSum=1.450;QD=31.27;ReadPosRankSum=0.106;SB=-420.42;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,48:50:99:1597,120,0:0.980:99 chr8 143955471 rs5299 T C 798.36 PASS AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8729;MQ=56.58;MQ0=0;QD=31.93;SB=-246.52;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,23:25:63.20:831,63,0:1.000:63 chr8 143960597 rs5283 G A 8699.03 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.294;DP=368;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=36.2085;MQ=45.76;MQ0=0;MQRankSum=0.382;QD=23.64;ReadPosRankSum=-0.159;SB=-6051.46;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Synonymous_D82D,Synonymous_D82D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,361:368:99:8699,588,0:0.994:99 chr8 143961005 rs6410 T C 4674.47 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.695;DP=186;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=8.9835;MQ=51.01;MQ0=0;MQRankSum=-0.428;QD=25.13;ReadPosRankSum=-0.093;SB=-3388.86;TI=NM_001026213,NM_000497;GI=CYP11B1,CYP11B1;FC=Synonymous_L75L,Synonymous_L75L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,185:186:99:4674,328,0:0.995:99 chr8 144996831 . G A 1026.10 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.900;DP=99;Dels=0.00;FS=0.793;HRun=1;HaplotypeScore=7.6486;MQ=55.35;MQ0=0;MQRankSum=1.458;QD=10.36;ReadPosRankSum=-0.201;SB=-554.75;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_L2422L,Synonymous_L2426L,Synonymous_L2422L,Synonymous_L2390L,Synonymous_L2559L,Synonymous_L2400L,Synonymous_L2408L,Synonymous_L2449L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:56,43:99:99:1056,0,1459:0.434:99 chr8 144998076 . C T 2928.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.580;DP=242;Dels=0.00;FS=2.908;HRun=0;HaplotypeScore=5.3097;MQ=45.59;MQ0=0;MQRankSum=0.931;QD=12.10;ReadPosRankSum=-1.150;SB=-2058.56;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_A2007A,Synonymous_A2011A,Synonymous_A2007A,Synonymous_A1975A,Synonymous_A2144A,Synonymous_A1985A,Synonymous_A1993A,Synonymous_A2034A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:102,140:242:99:2958,0,1987:0.579:99 chr8 144998444 . C T 1629.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.306;DP=110;Dels=0.00;FS=5.214;HRun=0;HaplotypeScore=9.8923;MQ=55.35;MQ0=0;MQRankSum=1.487;QD=14.82;ReadPosRankSum=-0.275;SB=-982.51;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_A1885T,Missense_A1889T,Missense_A1885T,Missense_A1853T,Missense_A2022T,Missense_A1863T,Missense_A1871T,Missense_A1912T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,71:110:99:1660,0,838:0.645:99 chr8 145007187 rs11136336 G A 2771.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.428;DP=246;Dels=0.00;FS=0.991;HRun=0;HaplotypeScore=10.8500;MQ=51.41;MQ0=0;MQRankSum=0.811;QD=11.27;ReadPosRankSum=0.394;SB=-1976.10;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 0/1:118,127:246:99:2802,0,2593:0.518:99 chr8 145008560 rs11783799 A G 2224.46 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.205;DP=234;Dels=0.00;FS=0.494;HRun=0;HaplotypeScore=13.6695;MQ=48.76;MQ0=0;MQRankSum=-0.062;QD=9.51;ReadPosRankSum=0.248;SB=-1301.27;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 0/1:130,103:234:99:2254,0,2751:0.442:99 chr8 145011204 rs6993938 A G 7247.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.167;DP=642;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=32.4896;MQ=48.41;MQ0=0;MQRankSum=-0.719;QD=11.29;ReadPosRankSum=1.565;SB=-4932.70;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 0/1:314,325:642:99:7247,0,7068:0.509:99 chr9 286593 rs529208 C A 4806.97 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.521;DP=460;Dels=0.00;FS=1.520;HRun=0;HaplotypeScore=35.4454;MQ=48.75;MQ0=0;MQRankSum=2.803;QD=10.45;ReadPosRankSum=2.483;SB=-3274.12;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Missense_P97T,Missense_P29T,Missense_P29T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:240,219:460:99:4807,0,5347:0.477:99 chr9 370244 rs913703 A G 3554.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.054;DP=375;Dels=0.00;FS=3.935;HRun=0;HaplotypeScore=16.6837;MQ=51.03;MQ0=0;MQRankSum=-0.413;QD=9.48;ReadPosRankSum=-2.455;SB=-2608.04;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 0/1:208,166:375:99:3554,0,4590:0.444:99 chr9 377111 rs10814431 G C 6441.60 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.196;DP=534;Dels=0.00;FS=0.316;HRun=0;HaplotypeScore=26.3495;MQ=48.91;MQ0=1;MQRankSum=0.241;QD=12.06;ReadPosRankSum=1.409;SB=-4851.44;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 0/1:234,299:534:99:6442,0,4763:0.561:99 chr9 390512 rs2297075 C T 6089.84 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.599;DP=518;Dels=0.00;FS=1.428;HRun=0;HaplotypeScore=28.9202;MQ=50.95;MQ0=0;MQRankSum=-0.870;QD=11.76;ReadPosRankSum=-3.780;SB=-3756.42;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 0/1:247,269:518:99:6090,0,5572:0.521:99 chr9 421032 rs2297079 C G 3591.35 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.894;DP=378;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=24.6916;MQ=50.76;MQ0=0;MQRankSum=2.270;QD=9.50;ReadPosRankSum=-2.011;SB=-2463.11;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 0/1:213,164:378:99:3591,0,4674:0.435:99 chr9 429719 rs7854035 T C 11387.92 PASS AC=2;AF=1.00;AN=2;DP=435;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.9666;MQ=49.95;MQ0=0;QD=26.18;SB=-7762.06;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 1/1:0,435:435:99:11388,804,0:1.000:99 chr9 441952 rs1887957 G A 16437.95 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.367;DP=638;Dels=0.00;FS=3.441;HRun=1;HaplotypeScore=24.4571;MQ=52.49;MQ0=0;MQRankSum=-0.359;QD=25.76;ReadPosRankSum=0.534;SB=-10984.97;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Synonymous_E1811E,Synonymous_E1743E,Synonymous_E1711E;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,635:638:99:16438,1161,0:0.998:99 chr9 464920 rs3780338 G A 13031.06 PASS AC=2;AF=1.00;AN=2;DP=471;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=34.4810;MQ=51.35;MQ0=0;QD=27.67;SB=-7897.45;TI=NM_203447,NM_001193536,NM_001190458;GI=DOCK8,DOCK8,DOCK8;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,469:471:99:13031,945,0:1.000:99 chr9 2622121 rs12379259 A G 1689.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.662;DP=166;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=16.0329;MQ=46.11;MQ0=0;MQRankSum=-1.762;QD=10.18;ReadPosRankSum=-0.772;SB=-871.54;TI=NR_015375,NM_003383,NM_001018056;GI=FLJ35024,VLDLR,VLDLR;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:84,79:166:99:1719,0,1796:0.485:99 chr9 2635545 rs6149 G A 8376.66 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.306;DP=717;Dels=0.00;FS=0.270;HRun=0;HaplotypeScore=27.3325;MQ=49.38;MQ0=0;MQRankSum=0.086;QD=11.68;ReadPosRankSum=-0.094;SB=-5039.57;TI=NM_003383,NM_001018056;GI=VLDLR,VLDLR;FC=Missense_V59I,Missense_V59I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:362,355:717:99:8377,0,8357:0.495:99 chr9 6532477 rs7848919 G A 6254.28 PASS AC=2;AF=1.00;AN=2;DP=212;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=18.1321;MQ=51.87;MQ0=0;QD=29.50;SB=-3165.49;TI=NM_000170;GI=GLDC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,212:212:99:6254,463,0:1.000:99 chr9 6532510 rs3215922 TA T 3484.46 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.854;DP=353;FS=0.845;HRun=13;HaplotypeScore=2313.2461;MQ=51.40;MQ0=0;MQRankSum=1.437;QD=9.87;ReadPosRankSum=0.982;SB=-1742.00;TI=NM_000170;GI=GLDC;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:169,141:352:99:3484,0,2535:0.455:99 chr9 6532544 rs1061407 G A 8920.94 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.210;DP=325;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=38.3633;MQ=50.36;MQ0=0;MQRankSum=1.721;QD=27.45;ReadPosRankSum=1.700;SB=-5368.51;TI=NM_000170;GI=GLDC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,324:325:99:8921,653,0:0.997:99 chr9 6533010 rs2228098 C G 3614.00 PASS AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3510;MQ=53.87;MQ0=0;QD=28.46;SB=-2387.45;TI=NM_000170;GI=GLDC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,127:127:99:3614,262,0:1.000:99 chr9 6554707 . G A 4139.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.695;DP=378;Dels=0.00;FS=0.788;HRun=0;HaplotypeScore=20.5086;MQ=50.39;MQ0=0;MQRankSum=0.440;QD=10.95;ReadPosRankSum=-1.447;SB=-2906.70;TI=NM_000170;GI=GLDC;FC=Synonymous_P759P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:179,199:378:99:4140,0,3807:0.526:99 chr9 6645438 . C T 24.85 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.231;DP=5;Dels=0.00;FS=3.979;HRun=0;HaplotypeScore=7.7957;MQ=32.44;MQ0=0;MQRankSum=-1.231;QD=4.97;ReadPosRankSum=0.358;SB=-0.00;TI=NM_000170;GI=GLDC;FC=Missense_R21H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,2:5:54.83:55,0,66:0.400:24 chr9 6645445 . C T 58.27 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DP=5;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8627;MQ=32.44;MQ0=0;MQRankSum=-1.231;QD=11.65;ReadPosRankSum=-1.231;SB=-27.42;TI=NM_000170;GI=GLDC;FC=Missense_G19S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,3:5:32.73:88,0,33:0.600:32 chr9 6645448 . C G 24.85 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DP=5;Dels=0.00;FS=4.771;HRun=0;HaplotypeScore=2.9632;MQ=32.44;MQ0=0;MQRankSum=-1.231;QD=4.97;ReadPosRankSum=-0.358;SB=-1.25;TI=NM_000170;GI=GLDC;FC=Missense_G18R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,2:5:54.83:55,0,61:0.400:24 chr9 6645453 . A G 27.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DP=4;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=33.24;MQ0=0;MQRankSum=-1.026;QD=6.96;ReadPosRankSum=-1.026;SB=-0.00;TI=NM_000170;GI=GLDC;FC=Missense_V16A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,2:4:35.74:58,0,36:0.500:27 chr9 33001449 rs1197774 C A 2815.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.588;DP=306;Dels=0.00;FS=0.422;HRun=1;HaplotypeScore=13.0151;MQ=50.76;MQ0=0;MQRankSum=1.465;QD=9.20;ReadPosRankSum=1.569;SB=-2074.72;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 0/1:170,134:306:99:2845,0,4005:0.441:99 chr9 33111348 rs16918997 A G 2084.54 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.058;DP=153;Dels=0.00;FS=2.071;HRun=1;HaplotypeScore=14.2271;MQ=47.03;MQ0=0;MQRankSum=-0.050;QD=13.62;ReadPosRankSum=0.377;SB=-1159.75;TI=NM_001497;GI=B4GALT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:67,86:153:99:2115,0,1586:0.562:99 chr9 33111411 rs78409522 C T 3568.18 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.735;DP=270;Dels=0.00;FS=2.688;HRun=2;HaplotypeScore=11.6232;MQ=46.46;MQ0=0;MQRankSum=-0.796;QD=13.22;ReadPosRankSum=1.803;SB=-2367.54;TI=NM_001497;GI=B4GALT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:118,152:270:99:3568,0,2786:0.563:99 chr9 33111561 rs3841451 GA G 6597.32 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.034;DP=471;FS=0.692;HRun=5;HaplotypeScore=267.8464;MQ=49.10;MQ0=0;MQRankSum=0.862;QD=14.01;ReadPosRankSum=1.251;SB=-3197.56;TI=NM_001497;GI=B4GALT1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:262,208:471:99:6597,0,8351:0.443:99 chr9 33111776 . G GA 999.08 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=6.519;DP=90;FS=0.836;HRun=1;HaplotypeScore=178.2587;MQ=52.70;MQ0=0;MQRankSum=3.940;QD=11.10;ReadPosRankSum=0.137;SB=-498.01;TI=NM_001497;GI=B4GALT1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:59,31:90:99:1038,0,2078:0.344:99 chr9 33111788 rs16918998 T C 578.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.836;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8827;MQ=52.23;MQ0=0;MQRankSum=4.619;QD=6.43;ReadPosRankSum=1.630;SB=-432.84;TI=NM_001497;GI=B4GALT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:59,31:90:99:608,0,1465:0.344:99 chr9 33112623 rs16918999 A C 2952.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.165;DP=228;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=36.0037;MQ=54.09;MQ0=0;MQRankSum=1.586;QD=12.95;ReadPosRankSum=-0.268;SB=-1616.82;TI=NM_001497;GI=B4GALT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:107,120:227:99:2983,0,2870:0.529:99 chr9 33113121 rs869 G A 3357.12 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.372;DP=314;Dels=0.00;FS=0.885;HRun=1;HaplotypeScore=18.0843;MQ=53.60;MQ0=0;MQRankSum=0.776;QD=10.69;ReadPosRankSum=-0.870;SB=-1700.82;TI=NM_001497;GI=B4GALT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:175,138:314:99:3357,0,4164:0.441:99 chr9 33113196 rs7019896 G T 4117.75 PASS AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=56.36;MQ0=0;QD=32.94;SB=-2040.58;TI=NM_001497;GI=B4GALT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,125:125:99:4118,307,0:1.000:99 chr9 35657838 rs7021642 G A 3051.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.858;DP=303;Dels=0.00;FS=1.378;HRun=0;HaplotypeScore=21.5779;MQ=47.75;MQ0=0;MQRankSum=-2.499;QD=10.07;ReadPosRankSum=-0.319;SB=-2448.08;TI=NR_003051;GI=RMRP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:153,150:303:99:3082,0,3250:0.495:99 chr9 35657859 rs7021463 C G 1955.09 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.607;DP=223;Dels=0.00;FS=2.316;HRun=1;HaplotypeScore=19.8708;MQ=49.90;MQ0=0;MQRankSum=-0.684;QD=8.77;ReadPosRankSum=-0.708;SB=-1579.31;TI=NR_003051;GI=RMRP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:122,99:223:99:1985,0,2677:0.448:99 chr9 97862118 rs4647558 C T 3412.36 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.431;DP=128;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.1745;MQ=56.14;MQ0=0;MQRankSum=1.143;QD=26.66;ReadPosRankSum=-0.183;SB=-1939.10;TI=NM_000136;GI=FANCC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,126:128:99:3412,211,0:0.984:99 chr9 97862701 rs4647554 A G 12081.03 PASS AC=2;AF=1.00;AN=2;DP=436;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.1489;MQ=51.03;MQ0=0;QD=27.71;SB=-8155.88;TI=NM_000136;GI=FANCC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,436:436:99:12081,870,0:1.000:99 chr9 99064425 rs2066474 T C 2150.67 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.840;DP=205;Dels=0.00;FS=3.346;HRun=1;HaplotypeScore=7.5586;MQ=47.26;MQ0=0;MQRankSum=-1.705;QD=10.49;ReadPosRankSum=2.424;SB=-1248.70;TI=NM_000197;GI=HSD17B3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:107,98:205:99:2181,0,2470:0.478:99 chr9 100459578 rs1800975 T C 6030.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.269;DP=614;Dels=0.00;FS=0.605;HRun=1;HaplotypeScore=34.2196;MQ=48.86;MQ0=0;MQRankSum=0.201;QD=9.82;ReadPosRankSum=0.881;SB=-4334.57;TI=NR_027302,NM_000380;GI=XPA,XPA;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:327,286:614:99:6030,0,7146:0.467:99 chr9 103054951 rs2787374 T C 2667.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.788;DP=260;Dels=0.00;FS=2.114;HRun=2;HaplotypeScore=22.3292;MQ=51.28;MQ0=0;MQRankSum=1.409;QD=10.26;ReadPosRankSum=0.166;SB=-1941.17;TI=NM_183245,NM_014425;GI=INVS,INVS;FC=Silent,Synonymous_S804S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:136,124:260:99:2697,0,3037:0.477:99 chr9 103063284 . G A 2424.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.914;DP=192;Dels=0.00;FS=1.809;HRun=0;HaplotypeScore=4.4430;MQ=56.03;MQ0=0;MQRankSum=2.171;QD=12.63;ReadPosRankSum=1.644;SB=-1633.53;TI=NM_183245,NM_014425;GI=INVS,INVS;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:87,105:192:99:2454,0,2060:0.547:99 chr9 104182940 rs491979 T C 1900.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.724;DP=139;Dels=0.00;FS=0.636;HRun=0;HaplotypeScore=6.5675;MQ=53.54;MQ0=0;MQRankSum=-2.111;QD=13.67;ReadPosRankSum=-3.685;SB=-1293.82;TI=NM_000035;GI=ALDOB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,79:139:99:1931,0,1416:0.568:99 chr9 104184022 rs4577 G A 1549.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.563;DP=116;Dels=0.00;FS=3.023;HRun=0;HaplotypeScore=4.5630;MQ=58.43;MQ0=0;MQRankSum=-1.229;QD=13.36;ReadPosRankSum=1.738;SB=-318.89;TI=NM_000035;GI=ALDOB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,55:116:99:1579,0,1585:0.478:99 chr9 108398331 rs10978177 T G 7668.40 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.527;DP=246;Dels=0.00;FS=3.085;HRun=0;HaplotypeScore=21.9592;MQ=55.56;MQ0=0;MQRankSum=1.918;QD=31.17;ReadPosRankSum=0.661;SB=-4464.97;TI=NM_001198963,NM_001079802,NM_006731;GI=FKTN,FKTN,FKTN;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,243:246:99:7668,543,0:0.988:99 chr9 108402835 . GA G 660.31 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.263;DP=244;FS=0.000;HRun=13;HaplotypeScore=425.3585;MQ=48.41;MQ0=0;MQRankSum=2.854;QD=2.71;ReadPosRankSum=2.378;SB=-325.37;TI=NM_001198963,NM_001079802,NM_006731;GI=FKTN,FKTN,FKTN;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:154,46:244:99:699,0,3293:0.230:99 chr9 108403163 rs1048215 T A 6531.27 PASS AC=2;AF=1.00;AN=2;DP=225;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5915;MQ=52.28;MQ0=0;QD=29.03;SB=-4091.63;TI=NM_001198963,NM_001079802,NM_006731;GI=FKTN,FKTN,FKTN;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,225:225:99:6531,473,0:1.000:99 chr9 111630044 rs4978371 G T 4506.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.153;DP=404;Dels=0.00;FS=0.754;HRun=1;HaplotypeScore=19.2938;MQ=52.81;MQ0=0;MQRankSum=2.301;QD=11.16;ReadPosRankSum=0.604;SB=-2985.34;TI=NM_003640;GI=IKBKAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:209,195:404:99:4507,0,4899:0.483:99 chr9 111641825 rs1538660 G A 4930.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.132;DP=544;Dels=0.00;FS=2.717;HRun=0;HaplotypeScore=38.9203;MQ=47.86;MQ0=1;MQRankSum=0.704;QD=9.06;ReadPosRankSum=0.585;SB=-3214.38;TI=NM_003640;GI=IKBKAP;FC=Missense_P1158L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:314,229:544:99:4931,0,6617:0.422:99 chr9 111651620 rs3204145 A T 3897.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.233;DP=389;Dels=0.00;FS=1.211;HRun=0;HaplotypeScore=24.7401;MQ=51.27;MQ0=0;MQRankSum=2.050;QD=10.02;ReadPosRankSum=1.963;SB=-2664.05;TI=NM_003640;GI=IKBKAP;FC=Missense_C1072S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:207,182:389:99:3897,0,4546:0.468:99 chr9 111653574 rs1063110 C G 3886.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.829;DP=435;Dels=0.00;FS=2.043;HRun=0;HaplotypeScore=22.1743;MQ=49.48;MQ0=0;MQRankSum=0.749;QD=8.93;ReadPosRankSum=1.081;SB=-2781.33;TI=NM_003640;GI=IKBKAP;FC=Synonymous_L1023L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:252,182:435:99:3886,0,5579:0.419:99 chr9 111659483 rs2230793 T G 4714.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.306;DP=418;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.5931;MQ=48.90;MQ0=0;MQRankSum=-0.610;QD=11.28;ReadPosRankSum=-1.763;SB=-3102.05;TI=NM_003640;GI=IKBKAP;FC=Missense_I816L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:202,215:418:99:4715,0,4512:0.516:99 chr9 111660851 rs2230792 C T 10558.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.274;DP=948;Dels=0.00;FS=1.908;HRun=3;HaplotypeScore=50.9965;MQ=53.44;MQ0=0;MQRankSum=3.049;QD=11.14;ReadPosRankSum=0.993;SB=-7108.75;TI=NM_003640;GI=IKBKAP;FC=Missense_G765E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:495,451:948:99:10558,0,11651:0.477:99 chr9 111696389 rs2275641 G C 2431.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.084;DP=242;Dels=0.00;FS=1.594;HRun=2;HaplotypeScore=10.1515;MQ=50.64;MQ0=0;MQRankSum=-1.535;QD=10.05;ReadPosRankSum=-3.433;SB=-1525.17;TI=NM_003640;GI=IKBKAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:132,110:242:99:2461,0,3183:0.455:99 chr9 127244848 . T C 165.25 SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.693;DP=32;Dels=0.03;FS=8.435;HRun=3;HaplotypeScore=15.2332;MQ=50.97;MQ0=0;MQRankSum=-3.860;QD=5.16;ReadPosRankSum=-3.092;SB=-0.01;TI=NM_004959;GI=NR5A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:23,8:31:99:195,0,587:0.258:99 chr9 127244855 . C G 58.94 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.350;DP=37;Dels=0.00;FS=5.354;HRun=1;HaplotypeScore=14.1928;MQ=51.12;MQ0=0;MQRankSum=-3.605;QD=1.59;ReadPosRankSum=-2.081;SB=-0.01;TI=NM_004959;GI=NR5A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,6:37:88.93:89,0,775:0.162:58 chr9 127244857 . T C 83.83 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.600;DP=37;Dels=0.00;FS=8.076;HRun=2;HaplotypeScore=15.0249;MQ=51.12;MQ0=0;MQRankSum=-3.877;QD=2.27;ReadPosRankSum=-2.158;SB=-0.01;TI=NM_004959;GI=NR5A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,7:37:99:114,0,701:0.194:83 chr9 127244859 . A C 134.00 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.624;DP=40;Dels=0.00;FS=11.421;HRun=3;HaplotypeScore=14.0584;MQ=50.75;MQ0=0;MQRankSum=-4.275;QD=3.35;ReadPosRankSum=-2.397;SB=-0.01;TI=NM_004959;GI=NR5A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:31,9:40:99:164,0,728:0.225:99 chr9 127244863 . A C 89.62 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.490;DP=39;Dels=0.00;FS=7.900;HRun=3;HaplotypeScore=13.0919;MQ=50.49;MQ0=0;MQRankSum=-4.224;QD=2.30;ReadPosRankSum=-4.114;SB=-0.01;TI=NM_004959;GI=NR5A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,8:39:99:120,0,696:0.216:89 chr9 127245010 . A C 11.07 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.333;DP=39;Dels=0.03;FS=37.989;HRun=5;HaplotypeScore=18.5542;MQ=38.58;MQ0=0;MQRankSum=-1.444;QD=0.28;ReadPosRankSum=-2.555;SB=-2.50;TI=NM_004959;GI=NR5A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,5:38:40.71:41,0,814:0.135:11 chr9 131303925 . G C 3098.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.697;DP=323;Dels=0.00;FS=5.132;HRun=1;HaplotypeScore=19.7742;MQ=48.45;MQ0=0;MQRankSum=0.979;QD=9.59;ReadPosRankSum=1.689;SB=-2158.04;TI=NM_001003722;GI=GLE1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:175,148:323:99:3128,0,3782:0.458:99 chr9 134378634 . C T 675.99 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.687;DP=67;Dels=0.00;FS=2.150;HRun=0;HaplotypeScore=7.0922;MQ=50.75;MQ0=0;MQRankSum=0.699;QD=10.09;ReadPosRankSum=0.545;SB=-346.30;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 0/1:34,32:67:99:706,0,807:0.485:99 chr9 134386744 rs10901065 T C 10959.74 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=3.320;DP=442;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=24.6979;MQ=47.61;MQ0=0;MQRankSum=0.893;QD=24.80;ReadPosRankSum=-1.322;SB=-8171.74;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 1/1:4,437:442:99:10960,771,0:0.991:99 chr9 134387488 rs3739494 T C 8236.44 PASS AC=2;AF=1.00;AN=2;DP=329;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1443;MQ=48.98;MQ0=0;QD=25.03;SB=-6309.16;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 1/1:0,329:329:99:8236,572,0:1.000:99 chr9 134398534 rs3739495 T C 2059.68 PASS AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=57.77;MQ0=0;QD=34.91;SB=-821.90;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 1/1:0,59:59:99:2093,160,0:1.000:99 chr9 134398719 rs3824395 T C 10560.54 PASS AC=2;AF=1.00;AN=2;DP=429;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.6441;MQ=47.60;MQ0=0;QD=24.62;SB=-8226.52;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 1/1:0,429:429:99:10561,734,0:1.000:99 chr9 134398771 rs10793885 T C 4637.88 PASS AC=2;AF=1.00;AN=2;DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0026;MQ=55.84;MQ0=0;QD=27.94;SB=-3014.60;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 1/1:0,166:166:99:4638,334,0:1.000:99 chr9 134398778 rs4740259 A G 4651.75 PASS AC=2;AF=1.00;AN=2;DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0811;MQ=55.96;MQ0=0;QD=28.02;SB=-2887.54;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 1/1:0,166:166:99:4652,334,0:1.000:99 chr9 134398841 rs7857419 C T 5947.35 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.702;DP=234;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.0807;MQ=48.49;MQ0=0;MQRankSum=-0.052;QD=25.42;ReadPosRankSum=-0.037;SB=-3886.23;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 1/1:1,232:234:99:5947,387,0:0.996:99 chr9 134398946 rs11005 T C 2163.94 PASS AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7333;MQ=51.77;MQ0=0;QD=26.07;SB=-1269.16;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 1/1:0,83:83:99:2197,157,0:1.000:99 chr9 136219448 rs72619327 C G 7712.54 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.553;DP=687;Dels=0.00;FS=1.208;HRun=0;HaplotypeScore=40.2235;MQ=49.57;MQ0=0;MQRankSum=-2.036;QD=11.23;ReadPosRankSum=0.352;SB=-5100.29;TI=NM_003172;GI=SURF1;FC=Missense_D202H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:347,338:687:99:7713,0,8099:0.493:99 chr9 136291063 rs3118667 C T 4587.31 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.412;DP=459;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=27.9180;MQ=46.84;MQ0=0;MQRankSum=-2.625;QD=9.99;ReadPosRankSum=-0.485;SB=-3246.22;TI=NR_024514,NM_139027,NM_139026,NM_139025;GI=ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13;FC=Silent,Synonymous_A140A,Synonymous_A140A,Synonymous_A140A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:237,221:459:99:4587,0,4994:0.483:99 chr9 136301982 rs2301612 C G 4581.05 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.032;DP=374;Dels=0.00;FS=4.075;HRun=1;HaplotypeScore=31.6588;MQ=41.70;MQ0=0;MQRankSum=0.766;QD=12.25;ReadPosRankSum=-0.096;SB=-2202.75;TI=NR_024514,NM_139027,NM_139026,NM_139025;GI=ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13;FC=Silent,Missense_Q448E,Missense_Q417E,Missense_Q448E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:180,194:374:99:4581,0,3997:0.519:99 chr9 136304497 rs3124768 A G 4453.10 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.651;DP=475;Dels=0.00;FS=2.870;HRun=0;HaplotypeScore=18.6874;MQ=49.01;MQ0=0;MQRankSum=-0.269;QD=9.37;ReadPosRankSum=1.072;SB=-3300.54;TI=NR_024514,NM_139027,NM_139026,NM_139025;GI=ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13;FC=Silent,Synonymous_T572T,Synonymous_T541T,Synonymous_T572T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:261,214:475:99:4453,0,5490:0.451:99 chr9 136308542 rs3124767 C T 2191.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.085;DP=185;Dels=0.00;FS=1.830;HRun=0;HaplotypeScore=9.0806;MQ=53.59;MQ0=0;MQRankSum=1.963;QD=11.85;ReadPosRankSum=-1.907;SB=-1383.73;TI=NR_024514,NM_139027,NM_139026,NM_139025;GI=ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13;FC=Silent,Synonymous_G760G,Synonymous_G729G,Synonymous_G760G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:91,93:185:99:2222,0,2072:0.505:99 chr9 136324239 rs1055432 C A 3128.85 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.288;DP=308;Dels=0.00;FS=0.894;HRun=0;HaplotypeScore=11.7218;MQ=48.10;MQ0=0;MQRankSum=2.669;QD=10.16;ReadPosRankSum=-0.332;SB=-1888.58;TI=NR_024514,NM_139027,NM_139026,NM_139025;GI=ADAMTS13,ADAMTS13,ADAMTS13,ADAMTS13;FC=Silent,Synonymous_T1351T,Synonymous_T1320T,Synonymous_T1407T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:165,141:308:99:3159,0,3908:0.461:99 chr9 136440271 rs3833705 GC G 1363.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.097;DP=80;FS=0.000;HRun=6;HaplotypeScore=57.0833;MQ=55.01;MQ0=0;MQRankSum=-0.126;QD=17.05;ReadPosRankSum=1.193;SB=-683.40;TI=NM_001145320,NM_014694;GI=ADAMTSL2,ADAMTSL2;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,45:80:99:1403,0,1006:0.563:99 chr9 139088986 . A T 1322.35 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.454;DP=116;Dels=0.00;FS=1.558;HRun=0;HaplotypeScore=8.3106;MQ=53.33;MQ0=0;MQRankSum=2.328;QD=11.40;ReadPosRankSum=1.053;SB=-708.46;TI=NM_014564,NM_178138;GI=LHX3,LHX3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:63,53:116:99:1352,0,1538:0.457:99 chr10 14949925 . A G 71.93 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=32.10;MQ0=0;MQRankSum=0.922;QD=10.28;ReadPosRankSum=-0.922;SB=-24.69;TI=NM_022487,NM_001033858,NM_001033855,NM_001033857;GI=DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,5:7:40.08:102,0,40:0.714:40 chr10 14976414 rs7076862;rs75553163 G A 2684.31 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.483;DP=318;Dels=0.00;FS=0.432;HRun=1;HaplotypeScore=29.0393;MQ=45.76;MQ0=4;MQRankSum=2.995;QD=8.44;ReadPosRankSum=2.417;SB=-1674.37;TI=NM_022487,NM_001033858,NM_001033855,NM_001033857;GI=DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C;FC=Synonymous_L100L,Synonymous_L95L,Synonymous_L215L,Synonymous_L95L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:197,121:318:99:2714,0,4295:0.381:99 chr10 50665031 rs11101137 A G 8748.05 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.625;DP=360;Dels=0.00;FS=6.466;HRun=1;HaplotypeScore=13.7161;MQ=45.56;MQ0=0;MQRankSum=1.869;QD=24.30;ReadPosRankSum=1.042;SB=-6386.95;TI=NM_000124;GI=ERCC6;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,357:360:99:8748,554,0:0.994:99 chr10 50666628 . CA C 246.40 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.782;DP=181;FS=6.495;HRun=13;HaplotypeScore=548.8694;MQ=55.19;MQ0=0;MQRankSum=1.771;QD=1.36;ReadPosRankSum=-0.093;SB=-31.66;TI=NM_000124;GI=ERCC6;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:133,26:181:99:285,0,2784:0.164:99 chr10 50732280 rs2228528 C T 4427.16 PASS AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.6307;MQ=52.81;MQ0=0;QD=30.74;SB=-1957.97;TI=NM_000124,NM_170753;GI=ERCC6,PGBD3;FC=Missense_G399D,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,143:144:99:4427,328,0:1.000:99 chr10 50740600 rs4253013 C T 1578.10 PASS AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.35;MQ0=0;QD=29.22;SB=-582.81;TI=NM_000124;GI=ERCC6;FC=Synonymous_L137L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,54:54:99:1611,120,0:1.000:99 chr10 50747080 rs4253004 G T 7016.85 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.262;DP=602;Dels=0.00;FS=0.947;HRun=0;HaplotypeScore=32.5380;MQ=50.94;MQ0=0;MQRankSum=0.949;QD=11.66;ReadPosRankSum=0.987;SB=-4889.74;TI=NM_000124;GI=ERCC6;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:293,307:601:99:7017,0,6443:0.512:99 chr10 64572037 rs11325764 AT A 12810.07 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.705;DP=400;FS=0.000;HRun=8;HaplotypeScore=654.5388;MQ=49.28;MQ0=0;MQRankSum=1.723;QD=32.03;ReadPosRankSum=-1.205;SB=-4815.15;TI=NM_001136177,NM_001136179,NM_000399,NM_001136178;GI=EGR2,EGR2,EGR2,EGR2;FC=Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:19,380:400:99:12810,1142,0:0.952:99 chr10 64572093 rs61865882 T C 2364.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.479;DP=226;Dels=0.00;FS=3.829;HRun=1;HaplotypeScore=17.6961;MQ=46.57;MQ0=0;MQRankSum=-1.115;QD=10.46;ReadPosRankSum=1.250;SB=-1267.26;TI=NM_001136177,NM_001136179,NM_000399,NM_001136178;GI=EGR2,EGR2,EGR2,EGR2;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:123,103:226:99:2394,0,2883:0.456:99 chr10 64572680 rs61865883 A T 1864.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.500;DP=140;Dels=0.00;FS=0.646;HRun=0;HaplotypeScore=10.8289;MQ=57.53;MQ0=0;MQRankSum=-1.463;QD=13.32;ReadPosRankSum=-0.121;SB=-856.77;TI=NM_001136177,NM_001136179,NM_000399,NM_001136178;GI=EGR2,EGR2,EGR2,EGR2;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:71,69:140:99:1895,0,1738:0.493:99 chr10 64573771 rs224083 C T 6647.23 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.406;DP=282;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.4693;MQ=47.44;MQ0=0;MQRankSum=-1.571;QD=23.57;ReadPosRankSum=-1.014;SB=-4685.02;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 1/1:2,280:282:99:6647,467,0:0.993:99 chr10 71332204 rs4536103 A G 1770.77 PASS AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4156;MQ=57.16;MQ0=0;QD=27.24;SB=-759.95;TI=NM_020999;GI=NEUROG3;FC=Missense_F199S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,65:65:99:1804,132,0:1.000:99 chr10 71333106 rs10998862 G C 8827.61 PASS AC=2;AF=1.00;AN=2;DP=339;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=36.5770;MQ=51.35;MQ0=0;QD=26.04;SB=-5373.39;TI=NM_020999;GI=NEUROG3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,337:339:99:8828,629,0:1.000:99 chr10 72357599 . TAA T 987.65 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-3.777;DP=193;FS=7.628;HRun=16;HaplotypeScore=515.2346;MQ=49.87;MQ0=0;MQRankSum=0.194;QD=5.12;ReadPosRankSum=-0.686;SB=-453.21;TI=NM_001083116,NM_005041;GI=PRF1,PRF1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:94,36:193:99:1027,0,2377:0.277:99 chr10 72357713 rs1889490 C T 1221.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.478;DP=118;Dels=0.00;FS=1.621;HRun=0;HaplotypeScore=12.3118;MQ=50.25;MQ0=0;MQRankSum=-0.032;QD=10.36;ReadPosRankSum=0.281;SB=-473.29;TI=NM_001083116,NM_005041;GI=PRF1,PRF1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:65,53:118:99:1252,0,1648:0.449:99 chr10 72358577 rs885822 G A 6780.49 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.316;DP=276;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=19.1339;MQ=50.69;MQ0=0;MQRankSum=1.298;QD=24.57;ReadPosRankSum=-1.004;SB=-4834.19;TI=NM_001083116,NM_005041;GI=PRF1,PRF1;FC=Synonymous_H300H,Synonymous_H300H;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,273:276:99:6780,482,0:0.993:99 chr10 72358655 rs885821 G A 4501.60 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.100;DP=406;Dels=0.00;FS=1.171;HRun=0;HaplotypeScore=9.0675;MQ=48.24;MQ0=0;MQRankSum=-1.523;QD=11.09;ReadPosRankSum=-0.320;SB=-3080.43;TI=NM_001083116,NM_005041;GI=PRF1,PRF1;FC=Synonymous_A274A,Synonymous_A274A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:196,210:406:99:4502,0,4188:0.517:99 chr10 73270906 rs3802720 T C 4276.31 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.699;DP=437;Dels=0.00;FS=0.728;HRun=0;HaplotypeScore=25.9265;MQ=50.06;MQ0=0;MQRankSum=1.474;QD=9.79;ReadPosRankSum=2.584;SB=-3130.49;TI=NM_001171932,NM_052836,NM_001171931,NM_001171930,NM_022124;GI=CDH23,CDH23,CDH23,CDH23,CDH23;FC=Synonymous_V122V,Synonymous_V122V,Synonymous_V122V,Synonymous_V122V,Synonymous_V122V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:235,202:437:99:4276,0,4994:0.462:99 chr10 73377330 rs6480536 T C 4005.12 PASS AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=4.7824;MQ=51.90;MQ0=0;QD=26.70;SB=-2396.15;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 1/1:0,150:150:99:4005,286,0:1.000:99 chr10 73434906 rs10999947 G A 10811.69 PASS AC=2;AF=1.00;AN=2;DP=432;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.2469;MQ=49.70;MQ0=0;QD=25.03;SB=-7675.72;TI=NM_001171931,NM_001171930,NM_022124;GI=CDH23,CDH23,CDH23;FC=Missense_S496N,Missense_S496N,Missense_S496N;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,432:432:99:10812,752,0:1.000:99 chr10 73455201 rs3752752 T C 3997.80 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.059;DP=397;Dels=0.00;FS=1.189;HRun=0;HaplotypeScore=18.9661;MQ=48.47;MQ0=0;MQRankSum=1.787;QD=10.07;ReadPosRankSum=2.435;SB=-2720.79;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 0/1:214,182:397:99:3998,0,4539:0.460:99 chr10 73455273 rs3752751 T C 4036.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.099;DP=419;Dels=0.00;FS=6.240;HRun=0;HaplotypeScore=16.2224;MQ=46.79;MQ0=0;MQRankSum=-0.148;QD=9.63;ReadPosRankSum=1.354;SB=-2715.08;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 0/1:228,191:419:99:4036,0,5011:0.456:99 chr10 73461805 rs76601590 G A 2676.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.438;DP=297;Dels=0.00;FS=1.406;HRun=0;HaplotypeScore=7.2279;MQ=45.21;MQ0=0;MQRankSum=-1.237;QD=9.01;ReadPosRankSum=0.073;SB=-1863.05;TI=NM_001171931,NM_001171930,NM_022124;GI=CDH23,CDH23,CDH23;FC=Synonymous_G808G,Synonymous_G808G,Synonymous_G808G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:164,133:297:99:2706,0,3668:0.448:99 chr10 73466709 rs10823829 T C 2650.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.023;DP=243;Dels=0.00;FS=2.175;HRun=1;HaplotypeScore=6.5442;MQ=47.96;MQ0=0;MQRankSum=-0.888;QD=10.91;ReadPosRankSum=-0.180;SB=-2053.99;TI=NM_001171931,NM_001171930,NM_022124;GI=CDH23,CDH23,CDH23;FC=Synonymous_S1003S,Synonymous_S1003S,Synonymous_S1003S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:118,125:243:99:2681,0,2544:0.514:99 chr10 73492079 rs1227065 A G 3464.51 PASS AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4430;MQ=49.73;MQ0=0;QD=25.66;SB=-2196.28;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 1/1:0,135:135:99:3465,247,0:1.000:99 chr10 73498344 rs12218559 T A 3593.79 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.494;DP=409;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=38.3753;MQ=50.14;MQ0=0;MQRankSum=1.060;QD=8.79;ReadPosRankSum=-1.596;SB=-2664.60;TI=NM_022124;GI=CDH23;FC=Synonymous_P1433P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:240,168:409:99:3594,0,5407:0.412:99 chr10 73498386 rs12218564 T C 2848.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.092;DP=355;Dels=0.00;FS=0.400;HRun=0;HaplotypeScore=21.3272;MQ=51.18;MQ0=0;MQRankSum=0.751;QD=8.02;ReadPosRankSum=0.072;SB=-1984.14;TI=NM_022124;GI=CDH23;FC=Synonymous_D1447D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:223,132:355:99:2878,0,5022:0.372:99 chr10 73500599 rs10999978 C T 4733.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.540;DP=440;Dels=0.00;FS=1.543;HRun=0;HaplotypeScore=20.0597;MQ=51.10;MQ0=0;MQRankSum=2.163;QD=10.76;ReadPosRankSum=0.824;SB=-3540.69;TI=NM_022124;GI=CDH23;FC=Synonymous_G1503G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:222,218:440:99:4734,0,4811:0.495:99 chr10 73501556 rs1227051 G A 9815.13 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.376;DP=404;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.5363;MQ=48.79;MQ0=0;MQRankSum=-0.386;QD=24.29;ReadPosRankSum=-0.995;SB=-7498.92;TI=NM_022124;GI=CDH23;FC=Missense_A1575T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,401:404:99:9815,689,0:0.995:99 chr10 73537978 rs10762480 C T 4906.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.086;DP=424;Dels=0.00;FS=0.355;HRun=0;HaplotypeScore=19.0330;MQ=47.38;MQ0=0;MQRankSum=-2.479;QD=11.57;ReadPosRankSum=1.548;SB=-3831.25;TI=NM_022124;GI=CDH23;FC=Synonymous_Y1700Y;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:191,232:424:99:4906,0,4022:0.548:99 chr10 73544086 rs3802711 G A 5565.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.254;DP=481;Dels=0.00;FS=0.686;HRun=0;HaplotypeScore=15.3918;MQ=50.64;MQ0=0;MQRankSum=1.242;QD=11.57;ReadPosRankSum=-0.592;SB=-4262.91;TI=NM_022124;GI=CDH23;FC=Missense_R1804Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:224,256:481:99:5566,0,4960:0.533:99 chr10 73544093 rs74145660 C G 4843.84 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.477;DP=478;Dels=0.00;FS=0.690;HRun=1;HaplotypeScore=13.2619;MQ=50.21;MQ0=0;MQRankSum=2.423;QD=10.13;ReadPosRankSum=0.040;SB=-3492.36;TI=NM_022124;GI=CDH23;FC=Missense_D1806E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:253,224:478:99:4844,0,5582:0.470:99 chr10 73550969 rs10466026 G A 4086.20 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.819;DP=355;Dels=0.00;FS=0.391;HRun=1;HaplotypeScore=18.5480;MQ=49.94;MQ0=0;MQRankSum=-0.985;QD=11.51;ReadPosRankSum=0.907;SB=-2958.71;TI=NM_022124;GI=CDH23;FC=Missense_E2044K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:162,193:355:99:4086,0,3368:0.544:99 chr10 73558886 rs4747194 G A 4358.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.963;DP=451;Dels=0.00;FS=0.715;HRun=0;HaplotypeScore=18.2779;MQ=48.43;MQ0=0;MQRankSum=0.232;QD=9.66;ReadPosRankSum=0.988;SB=-2848.10;TI=NM_022124,NM_001171934,NM_001171933;GI=CDH23,CDH23,CDH23;FC=Missense_R2358Q,Missense_R118Q,Missense_R118Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:250,200:451:99:4358,0,5610:0.444:99 chr10 73558952 rs4747195 C T 4868.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.947;DP=515;Dels=0.00;FS=0.664;HRun=0;HaplotypeScore=23.9115;MQ=49.29;MQ0=0;MQRankSum=1.659;QD=9.45;ReadPosRankSum=0.978;SB=-3740.23;TI=NM_022124,NM_001171934,NM_001171933;GI=CDH23,CDH23,CDH23;FC=Missense_P2380L,Missense_P140L,Missense_P140L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:278,235:515:99:4869,0,5959:0.458:99 chr10 73562744 rs10823849 G A 5413.66 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.405;DP=475;Dels=0.00;FS=0.333;HRun=0;HaplotypeScore=20.7036;MQ=50.65;MQ0=0;MQRankSum=0.869;QD=11.40;ReadPosRankSum=0.188;SB=-3951.43;TI=NM_022124,NM_001171934,NM_001171933;GI=CDH23,CDH23,CDH23;FC=Synonymous_A2524A,Synonymous_A284A,Synonymous_A284A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:228,247:475:99:5414,0,4743:0.520:99 chr10 73571883 rs11000015 C T 550.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.616;DP=43;Dels=0.00;FS=1.267;HRun=0;HaplotypeScore=1.8939;MQ=54.82;MQ0=0;MQRankSum=-0.425;QD=12.79;ReadPosRankSum=0.911;SB=-177.60;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 0/1:21,22:43:99:580,0,594:0.512:99 chr10 73575239 rs2290022 A G 4509.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.689;DP=466;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=19.0759;MQ=47.74;MQ0=0;MQRankSum=-2.975;QD=9.68;ReadPosRankSum=1.305;SB=-3353.86;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 0/1:252,214:466:99:4509,0,5446:0.459:99 chr10 73575384 rs1867978 A G 2522.46 PASS AC=2;AF=1.00;AN=2;DP=81;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=13.7034;MQ=54.80;MQ0=0;QD=31.14;SB=-931.89;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 1/1:0,80:80:99:2555,193,0:1.000:99 chr10 73575413 . G A 1199.65 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.149;DP=103;Dels=0.00;FS=2.628;HRun=0;HaplotypeScore=9.9406;MQ=51.68;MQ0=0;MQRankSum=2.869;QD=11.65;ReadPosRankSum=1.449;SB=-660.44;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 0/1:57,46:103:99:1230,0,1370:0.447:99 chr10 73576307 rs7869 C T 10844.23 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.401;DP=456;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=22.6276;MQ=45.36;MQ0=0;MQRankSum=-1.347;QD=23.78;ReadPosRankSum=-0.374;SB=-8448.99;TI=NM_002778,NM_001042465,NM_001042466;GI=PSAP,PSAP,PSAP;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,454:456:99:10844,752,0:0.996:99 chr10 73610982 rs2070188 G A 6791.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.881;DP=572;Dels=0.00;FS=2.144;HRun=0;HaplotypeScore=18.8816;MQ=48.29;MQ0=1;MQRankSum=2.266;QD=11.87;ReadPosRankSum=-2.825;SB=-4694.83;TI=NM_002778,NM_001042465,NM_001042466;GI=PSAP,PSAP,PSAP;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:270,301:572:99:6792,0,5701:0.527:99 chr10 75009801 . T A 22.21 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.670;DP=23;Dels=0.00;FS=6.767;HRun=5;HaplotypeScore=2.6823;MQ=44.79;MQ0=0;MQRankSum=-2.392;QD=0.97;ReadPosRankSum=-2.775;SB=-0.01;TI=NM_016065;GI=MRPS16;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,3:23:52.18:52,0,470:0.136:22 chr10 75009807 . T A 140.88 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.770;DP=27;Dels=0.00;FS=21.065;HRun=5;HaplotypeScore=3.5489;MQ=42.82;MQ0=0;MQRankSum=-2.894;QD=5.22;ReadPosRankSum=-3.797;SB=-0.01;TI=NM_016065;GI=MRPS16;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,8:27:99:171,0,480:0.296:99 chr10 75009809 . C A 110.45 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.304;DP=27;Dels=0.00;FS=18.266;HRun=7;HaplotypeScore=4.4156;MQ=42.82;MQ0=0;MQRankSum=-3.347;QD=4.09;ReadPosRankSum=-3.901;SB=-0.01;TI=NM_016065;GI=MRPS16;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,7:27:99:140,0,495:0.259:99 chr10 75009940 . T C 13.35 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.042;DP=27;Dels=0.00;FS=2.793;HRun=1;HaplotypeScore=4.5737;MQ=40.62;MQ0=0;MQRankSum=-2.353;QD=0.49;ReadPosRankSum=-0.424;SB=-0.01;TI=NM_016065;GI=MRPS16;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,3:27:43.14:43,0,528:0.111:13 chr10 75009947 . A C 51.22 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.155;DP=35;Dels=0.00;FS=8.766;HRun=1;HaplotypeScore=4.5737;MQ=40.65;MQ0=0;MQRankSum=-3.041;QD=1.46;ReadPosRankSum=-1.014;SB=-0.01;TI=NM_016065;GI=MRPS16;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:30,5:35:81.21:81,0,710:0.143:51 chr10 75009957 . G A 45.03 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.370;DP=44;Dels=0.00;FS=8.598;HRun=1;HaplotypeScore=8.1085;MQ=42.25;MQ0=0;MQRankSum=-3.032;QD=1.02;ReadPosRankSum=-0.037;SB=-0.01;TI=NM_016065;GI=MRPS16;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,5:44:75.02:75,0,886:0.114:45 chr10 75009963 . G A 56.60 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=3.385;DP=71;Dels=0.00;FS=14.277;HRun=1;HaplotypeScore=19.0037;MQ=42.45;MQ0=0;MQRankSum=-3.925;QD=0.80;ReadPosRankSum=0.858;SB=-0.01;TI=NM_016065;GI=MRPS16;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:64,7:71:86.59:87,0,1521:0.099:56 chr10 75009965 . G A 59.62 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=2.851;DP=72;Dels=0.00;FS=14.362;HRun=1;HaplotypeScore=19.8704;MQ=42.75;MQ0=0;MQRankSum=-3.345;QD=0.83;ReadPosRankSum=0.513;SB=-0.01;TI=NM_016065;GI=MRPS16;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:65,7:72:89.61:90,0,1475:0.097:59 chr10 75009976 . CA C 174.89 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.033;DP=75;FS=0.947;HRun=16;HaplotypeScore=358.4971;MQ=42.44;MQ0=0;MQRankSum=-0.328;QD=2.33;ReadPosRankSum=0.234;SB=-68.55;TI=NM_016065;GI=MRPS16;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,17:75:99:214,0,828:0.258:99 chr10 75010142 . CA C 186.91 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.234;DP=83;FS=6.349;HRun=17;HaplotypeScore=437.1417;MQ=48.43;MQ0=0;MQRankSum=1.363;QD=2.25;ReadPosRankSum=-1.070;SB=-86.44;TI=NM_016065;GI=MRPS16;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:50,11:83:99:225,0,571:0.180:99 chr10 90771829 rs2234978 T C 10275.75 PASS AC=2;AF=1.00;AN=2;DP=387;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=22.8158;MQ=50.31;MQ0=0;QD=26.55;SB=-7141.58;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 1/1:0,386:387:99:10276,731,0:1.000:99 chr10 95790669 rs10882386 G A 9131.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.115;DP=743;Dels=0.00;FS=3.434;HRun=2;HaplotypeScore=48.0100;MQ=53.55;MQ0=0;MQRankSum=3.782;QD=12.29;ReadPosRankSum=1.930;SB=-5070.37;TI=NM_016341;GI=PLCE1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:375,367:743:99:9131,0,9126:0.495:99 chr10 95791613 rs17109671 T C 6142.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.067;DP=583;Dels=0.00;FS=2.998;HRun=0;HaplotypeScore=27.6942;MQ=53.00;MQ0=0;MQRankSum=5.469;QD=10.54;ReadPosRankSum=0.168;SB=-3739.64;TI=NM_016341;GI=PLCE1;FC=Synonymous_C270C;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:321,262:583:99:6143,0,7937:0.449:99 chr10 95791763 rs17109674 G A 9190.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=6.648;DP=799;Dels=0.00;FS=0.255;HRun=1;HaplotypeScore=38.7432;MQ=53.30;MQ0=0;MQRankSum=0.970;QD=11.50;ReadPosRankSum=0.944;SB=-6334.94;TI=NM_016341;GI=PLCE1;FC=Synonymous_E320E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:397,401:799:99:9190,0,8981:0.503:99 chr10 95931087 rs17417407 G T 5042.41 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.277;DP=493;Dels=0.00;FS=1.876;HRun=0;HaplotypeScore=25.8096;MQ=49.59;MQ0=0;MQRankSum=0.931;QD=10.23;ReadPosRankSum=0.959;SB=-3718.54;TI=NM_016341,NM_001165979;GI=PLCE1,PLCE1;FC=Missense_R548L,Missense_R240L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:253,239:493:99:5042,0,5373:0.486:99 chr10 96039597 rs2274224 G C 5180.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.061;DP=391;Dels=0.00;FS=0.771;HRun=5;HaplotypeScore=22.3940;MQ=50.59;MQ0=0;MQRankSum=0.863;QD=13.25;ReadPosRankSum=0.221;SB=-3453.42;TI=NM_016341,NM_001165979,NR_033969;GI=PLCE1,PLCE1,LOC100128054;FC=Missense_R1575P,Missense_R1267P,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:171,219:391:99:5180,0,3772:0.562:99 chr10 101469605 rs2300983 G A 7926.29 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.492;DP=305;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.2476;MQ=50.47;MQ0=0;MQRankSum=-2.273;QD=25.99;ReadPosRankSum=-1.002;SB=-5630.94;TI=NM_020354,NM_004376,NM_078470;GI=ENTPD7,COX15,COX15;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,303:305:99:7926,521,0:0.993:99 chr10 101470085 rs1000984 C A 5124.01 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.078;DP=452;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=26.9303;MQ=48.90;MQ0=0;MQRankSum=3.866;QD=11.34;ReadPosRankSum=0.995;SB=-3949.21;TI=NM_020354,NM_004376,NM_078470;GI=ENTPD7,COX15,COX15;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:216,236:452:99:5124,0,4632:0.522:99 chr10 101470858 rs11405417 C CA 6362.95 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.330;DP=224;FS=0.000;HRun=8;HaplotypeScore=225.6163;MQ=59.04;MQ0=0;MQRankSum=2.255;QD=28.41;ReadPosRankSum=0.474;SB=-2980.23;TI=NM_020354,NM_004376,NM_078470;GI=ENTPD7,COX15,COX15;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:7,203:224:99:6363,580,0:0.967:99 chr10 101471695 rs1128642 C T 1065.41 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.085;DP=96;Dels=0.00;FS=3.906;HRun=0;HaplotypeScore=14.6558;MQ=56.47;MQ0=0;MQRankSum=2.380;QD=11.10;ReadPosRankSum=1.031;SB=-635.39;TI=NM_004376,NM_078470;GI=COX15,COX15;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:53,43:96:99:1095,0,1348:0.448:99 chr10 101473218 rs2231687 A G 7941.50 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.698;DP=306;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.1368;MQ=51.45;MQ0=0;MQRankSum=-0.906;QD=25.95;ReadPosRankSum=-0.747;SB=-5429.51;TI=NM_004376,NM_078470;GI=COX15,COX15;FC=Missense_F374L,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,305:306:99:7941,563,0:0.997:99 chr10 101473535 rs7073616 C T 869.96 PASS AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=52.99;MQ0=0;QD=26.36;SB=-503.27;TI=NM_004376,NM_078470;GI=COX15,COX15;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,33:33:66.21:903,66,0:1.000:66 chr10 101473728 . C CA 91.98 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.122;DP=28;FS=0.000;HRun=17;HaplotypeScore=210.9868;MQ=46.02;MQ0=0;MQRankSum=-0.171;QD=3.28;ReadPosRankSum=-1.781;SB=-36.37;TI=NM_004376,NM_078470;GI=COX15,COX15;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,9:28:99:131,0,170:0.409:91 chr10 101473872 . CT C 463.10 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=2.299;DP=178;FS=0.594;HRun=12;HaplotypeScore=311.9642;MQ=53.07;MQ0=0;MQRankSum=1.484;QD=2.60;ReadPosRankSum=1.500;SB=-241.50;TI=NM_004376,NM_078470;GI=COX15,COX15;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:118,32:178:99:502,0,2687:0.213:99 chr10 101492241 rs2231675 G A 445.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.073;DP=38;Dels=0.00;FS=1.463;HRun=0;HaplotypeScore=4.3537;MQ=57.77;MQ0=0;MQRankSum=1.535;QD=11.73;ReadPosRankSum=0.190;SB=-167.27;TI=NM_004376,NM_078470,NM_015960;GI=COX15,COX15,CUTC;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,18:38:99:476,0,538:0.474:99 chr10 101492403 rs2281636 T G 2232.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.737;DP=228;Dels=0.00;FS=2.271;HRun=0;HaplotypeScore=21.3398;MQ=48.62;MQ0=0;MQRankSum=-2.418;QD=9.79;ReadPosRankSum=-1.140;SB=-1740.22;TI=NM_004376,NM_078470,NM_015960;GI=COX15,COX15,CUTC;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:117,110:228:99:2262,0,2612:0.485:99 chr10 102747363 rs3740484 G T 5321.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.401;DP=492;Dels=0.00;FS=3.361;HRun=0;HaplotypeScore=58.5202;MQ=48.62;MQ0=0;MQRankSum=2.748;QD=10.82;ReadPosRankSum=-0.540;SB=-3497.16;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 0/1:242,248:492:99:5321,0,5162:0.506:99 chr10 102750783 rs3740487 C A 4958.33 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.454;DP=457;Dels=0.00;FS=0.717;HRun=0;HaplotypeScore=35.7021;MQ=48.36;MQ0=0;MQRankSum=-1.681;QD=10.85;ReadPosRankSum=-1.964;SB=-2868.65;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 0/1:236,220:457:99:4958,0,5179:0.482:99 chr10 102754033 rs3740488 A T 1292.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.410;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4704;MQ=55.17;MQ0=0;MQRankSum=2.073;QD=14.05;ReadPosRankSum=-0.964;SB=-577.52;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 0/1:46,46:92:99:1323,0,1356:0.500:99 chr10 104596924 rs6163 C A 1474.62 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.056;DP=162;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5383;MQ=50.75;MQ0=0;MQRankSum=-3.068;QD=9.10;ReadPosRankSum=-0.992;SB=-1039.64;TI=NM_000102;GI=CYP17A1;FC=Synonymous_S65S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:92,70:162:99:1505,0,2146:0.432:99 chr10 104596981 rs6162 G A 1243.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.178;DP=120;Dels=0.00;FS=3.306;HRun=0;HaplotypeScore=10.8962;MQ=55.07;MQ0=0;MQRankSum=-0.865;QD=10.36;ReadPosRankSum=-1.887;SB=-811.46;TI=NM_000102;GI=CYP17A1;FC=Synonymous_H46H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:63,56:120:99:1273,0,1784:0.471:99 chr10 104597152 rs743572 A G 4145.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.176;DP=374;Dels=0.00;FS=2.196;HRun=1;HaplotypeScore=9.9325;MQ=51.19;MQ0=0;MQRankSum=2.909;QD=11.08;ReadPosRankSum=-0.549;SB=-2944.79;TI=NM_000102;GI=CYP17A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:188,186:374:99:4145,0,4082:0.497:99 chr10 105791355 rs9425 C T 3401.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.060;DP=330;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.7891;MQ=48.87;MQ0=0;MQRankSum=1.819;QD=10.31;ReadPosRankSum=1.613;SB=-2228.51;TI=NM_000494;GI=COL17A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:181,149:330:99:3402,0,4115:0.452:99 chr10 105791629 . CA C 1668.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.405;DP=78;FS=4.530;HRun=1;HaplotypeScore=104.4627;MQ=58.11;MQ0=0;MQRankSum=1.972;QD=21.39;ReadPosRankSum=-1.780;SB=-652.48;TI=NM_000494;GI=COL17A1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,45:78:99:1708,0,1263:0.577:99 chr10 105791929 rs805687 C G 217.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.067;DP=31;Dels=0.00;FS=1.617;HRun=0;HaplotypeScore=0.8941;MQ=53.35;MQ0=0;MQRankSum=-1.110;QD=7.00;ReadPosRankSum=-1.240;SB=-53.58;TI=NM_000494;GI=COL17A1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,9:31:99:247,0,567:0.290:99 chr10 105796819 rs2476958 A G 9587.71 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.669;DP=383;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.9126;MQ=49.77;MQ0=0;MQRankSum=1.669;QD=25.03;ReadPosRankSum=-1.361;SB=-7192.69;TI=NM_000494;GI=COL17A1;FC=Synonymous_I1087I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,382:383:99:9588,674,0:0.997:99 chr10 105798872 rs2274100 T C 6355.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=5.736;DP=593;Dels=0.00;FS=0.614;HRun=2;HaplotypeScore=32.1607;MQ=50.21;MQ0=0;MQRankSum=0.975;QD=10.72;ReadPosRankSum=-0.414;SB=-4718.38;TI=NM_000494;GI=COL17A1;FC=Synonymous_P968P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:300,291:593:99:6355,0,6775:0.492:99 chr10 105799216 rs2296219 G T 4486.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.637;DP=489;Dels=0.00;FS=3.894;HRun=3;HaplotypeScore=25.6184;MQ=47.13;MQ0=0;MQRankSum=-2.497;QD=9.17;ReadPosRankSum=0.131;SB=-3397.84;TI=NM_000494;GI=COL17A1;FC=Synonymous_P961P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:264,225:489:99:4486,0,5581:0.460:99 chr10 105801253 rs4918079 G A 5797.72 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.764;DP=536;Dels=0.00;FS=1.383;HRun=0;HaplotypeScore=22.1681;MQ=50.95;MQ0=0;MQRankSum=0.320;QD=10.82;ReadPosRankSum=0.187;SB=-4268.17;TI=NM_000494;GI=COL17A1;FC=Synonymous_R865R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:270,265:536:99:5798,0,5926:0.495:99 chr10 105810400 rs805722 T C 4691.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.797;DP=409;Dels=0.00;FS=0.365;HRun=0;HaplotypeScore=24.1468;MQ=51.37;MQ0=0;MQRankSum=0.606;QD=11.47;ReadPosRankSum=0.502;SB=-2763.57;TI=NM_000494;GI=COL17A1;FC=Missense_M703V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:203,206:409:99:4692,0,4522:0.504:99 chr10 105816916 rs805698 C T 7934.33 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.747;DP=616;Dels=0.00;FS=0.937;HRun=0;HaplotypeScore=24.7416;MQ=50.77;MQ0=0;MQRankSum=3.524;QD=12.88;ReadPosRankSum=-1.214;SB=-5091.23;TI=NM_000494;GI=COL17A1;FC=Missense_G428S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:279,336:616:99:7934,0,6235:0.546:99 chr10 105819956 rs805701 G A 4255.72 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.049;DP=392;Dels=0.00;FS=3.224;HRun=0;HaplotypeScore=21.7136;MQ=50.70;MQ0=0;MQRankSum=-4.587;QD=10.86;ReadPosRankSum=-2.509;SB=-3202.17;TI=NM_000494;GI=COL17A1;FC=Synonymous_A354A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:189,202:392:99:4256,0,4060:0.517:99 chr10 105824333 rs805708 G A 3032.98 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.936;DP=253;Dels=0.00;FS=1.526;HRun=0;HaplotypeScore=13.0181;MQ=45.71;MQ0=0;MQRankSum=-1.641;QD=11.99;ReadPosRankSum=-0.791;SB=-2306.57;TI=NM_000494;GI=COL17A1;FC=Missense_T210M;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:113,140:253:99:3063,0,2289:0.553:99 chr10 127511756 rs4256900 C T 1815.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.502;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8405;MQ=48.15;MQ0=0;MQRankSum=1.419;QD=13.75;ReadPosRankSum=2.252;SB=-1241.65;TI=NM_000375;GI=UROS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:54,78:132:99:1845,0,1106:0.591:99 chr10 127511790 rs4385801 G T 1503.68 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.461;DP=104;Dels=0.00;FS=1.694;HRun=0;HaplotypeScore=2.7328;MQ=51.42;MQ0=0;MQRankSum=0.226;QD=14.46;ReadPosRankSum=1.390;SB=-962.91;TI=NM_000375;GI=UROS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,63:104:99:1534,0,836:0.606:99 chr11 790762 rs17156064 G A 359.57 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;BaseQRankSum=-0.810;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4667;MQ=44.66;MQ0=0;MQRankSum=0.579;QD=22.47;ReadPosRankSum=-0.579;SB=-112.21;TI=NM_024698,NM_001191060,NM_001191061;GI=SLC25A22,SLC25A22,SLC25A22;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,14:16:2.67:389,3,0:0.933:2 chr11 791135 . G A 502.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.504;DP=69;Dels=0.00;FS=0.939;HRun=0;HaplotypeScore=16.6131;MQ=54.95;MQ0=0;MQRankSum=-0.298;QD=7.29;ReadPosRankSum=-0.529;SB=-420.12;TI=NM_024698,NM_001191060,NM_001191061;GI=SLC25A22,SLC25A22,SLC25A22;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:40,29:69:99:533,0,969:0.420:99 chr11 798235 . C A 31.20 LowVariantFreq;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.503;DP=19;Dels=0.00;FS=2.823;HRun=0;HaplotypeScore=7.7126;MQ=40.13;MQ0=0;MQRankSum=-2.739;QD=1.64;ReadPosRankSum=-0.280;SB=-0.01;TI=NM_001191061;GI=SLC25A22;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:16,3:19:61.19:61,0,367:0.158:31 chr11 2190951 rs6356 C T 7383.42 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.696;DP=287;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=25.9026;MQ=50.23;MQ0=0;MQRankSum=-0.561;QD=25.73;ReadPosRankSum=-0.718;SB=-4944.08;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 1/1:1,286:287:99:7383,527,0:0.997:99 chr11 3877074 rs10835206 C T 5704.97 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.587;DP=544;Dels=0.00;FS=0.313;HRun=0;HaplotypeScore=48.6755;MQ=51.28;MQ0=0;MQRankSum=1.656;QD=10.49;ReadPosRankSum=1.787;SB=-3972.29;TI=NM_003156;GI=STIM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:279,264:544:99:5705,0,5913:0.486:99 chr11 4103524 rs2304891 A G 2880.18 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.542;DP=308;Dels=0.00;FS=1.922;HRun=0;HaplotypeScore=17.1863;MQ=49.35;MQ0=0;MQRankSum=2.318;QD=9.35;ReadPosRankSum=-0.046;SB=-1929.30;TI=NM_003156;GI=STIM1;FC=Synonymous_Q360Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:177,129:308:99:2910,0,3875:0.422:99 chr11 4113200 rs3750996 A G 888.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.163;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3371;MQ=47.46;MQ0=0;MQRankSum=0.608;QD=12.01;ReadPosRankSum=0.496;SB=-575.79;TI=NM_003156;GI=STIM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,37:74:99:919,0,704:0.514:99 chr11 4113395 rs1561876 G A 3321.87 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.648;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=55.78;MQ0=0;MQRankSum=1.620;QD=26.79;ReadPosRankSum=-1.257;SB=-2303.48;TI=NM_003156;GI=STIM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,123:124:99:3322,238,0:0.992:99 chr11 5248243 rs713040 A G 4236.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.482;DP=402;Dels=0.00;FS=0.758;HRun=1;HaplotypeScore=12.6228;MQ=50.54;MQ0=0;MQRankSum=-0.386;QD=10.54;ReadPosRankSum=-1.829;SB=-3135.60;TI=NM_000518;GI=HBB;FC=Synonymous_H3H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:201,201:402:99:4237,0,4279:0.500:99 chr11 6411930 . CCTGGTGCTGGCG C 3620.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-7.464;DP=105;FS=0.000;HRun=0;HaplotypeScore=237.3950;MQ=54.90;MQ0=0;MQRankSum=-2.690;QD=34.48;ReadPosRankSum=-4.884;SB=-1507.37;TI=NM_000543,NM_001007593;GI=SMPD1,SMPD1;FC=4AA_Deletion,4AA_Deletion;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,69:105:99:3621,0,3084:0.657:99 chr11 6634149 rs7488 C T 3994.83 PASS AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.7627;MQ=55.47;MQ0=0;QD=29.81;SB=-2544.07;TI=NM_000391;GI=TPP1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,134:134:99:3995,292,0:1.000:99 chr11 6634189 rs7487 G A 2211.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.476;DP=188;Dels=0.00;FS=10.074;HRun=1;HaplotypeScore=6.5479;MQ=53.54;MQ0=0;MQRankSum=2.005;QD=11.77;ReadPosRankSum=1.618;SB=-905.71;TI=NM_000391;GI=TPP1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:100,88:188:99:2242,0,2393:0.468:99 chr11 6634659 rs1045450 C G 2836.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.357;DP=245;Dels=0.00;FS=2.855;HRun=5;HaplotypeScore=12.6576;MQ=50.40;MQ0=0;MQRankSum=-0.416;QD=11.58;ReadPosRankSum=-1.361;SB=-1928.86;TI=NM_000391;GI=TPP1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:120,125:245:99:2867,0,2897:0.510:99 chr11 6636106 rs1128396 T A 3691.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.690;DP=397;Dels=0.00;FS=1.201;HRun=0;HaplotypeScore=27.6124;MQ=47.82;MQ0=0;MQRankSum=-1.228;QD=9.30;ReadPosRankSum=-0.234;SB=-2775.12;TI=NM_000391;GI=TPP1;FC=Synonymous_G514G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:213,183:397:99:3692,0,4530:0.462:99 chr11 17418477 rs757110 C A 6642.96 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.669;DP=275;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4192;MQ=47.16;MQ0=0;MQRankSum=-0.303;QD=24.16;ReadPosRankSum=-0.405;SB=-4932.46;TI=NM_000352;GI=ABCC8;FC=Missense_A1369S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,273:275:99:6643,473,0:0.996:99 chr11 17496516 rs1048099 A G 2968.35 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.051;DP=285;Dels=0.00;FS=3.234;HRun=3;HaplotypeScore=28.3409;MQ=49.49;MQ0=0;MQRankSum=-2.709;QD=10.42;ReadPosRankSum=0.048;SB=-2045.21;TI=NM_000352;GI=ABCC8;FC=Synonymous_P69P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:148,137:285:99:2998,0,3284:0.481:99 chr11 17515459 rs10649542 C CTGTT 12801.36 PASS AC=2;AF=1.00;AN=2;DP=177;FS=0.000;HRun=0;HaplotypeScore=88.0470;MQ=55.70;MQ0=0;QD=72.32;SB=-5779.33;TI=NM_153676,NM_005709;GI=USH1C,USH1C;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,177:177:99:12801,533,0:1.000:99 chr11 17531146 rs17776775 G A 1415.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.256;DP=114;Dels=0.00;FS=18.412;HRun=1;HaplotypeScore=14.6510;MQ=41.24;MQ0=0;MQRankSum=-2.024;QD=12.42;ReadPosRankSum=2.208;SB=-352.37;TI=NM_153676,NM_005709;GI=USH1C,USH1C;FC=Synonymous_A590A,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:57,56:114:99:1446,0,1407:0.496:99 chr11 17542439 rs2240487 T C 5941.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.949;DP=541;Dels=0.00;FS=1.001;HRun=1;HaplotypeScore=35.1186;MQ=49.24;MQ0=0;MQRankSum=2.158;QD=10.98;ReadPosRankSum=-0.013;SB=-4028.31;TI=NM_153676,NM_005709;GI=USH1C,USH1C;FC=Synonymous_P396P,Synonymous_P396P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:274,267:541:99:5942,0,6171:0.494:99 chr11 34937697 rs2016814 T C 4920.25 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.610;DP=199;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=25.4276;MQ=50.63;MQ0=0;MQRankSum=1.575;QD=24.72;ReadPosRankSum=0.332;SB=-3214.92;TI=NM_015957,NM_001135024,NM_003477,NM_001166158;GI=APIP,PDHX,PDHX,PDHX;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,197:199:99:4920,352,0:0.995:99 chr11 34937813 rs2956114 G A 10133.90 PASS AC=2;AF=1.00;AN=2;DP=409;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=13.1188;MQ=46.18;MQ0=0;QD=24.78;SB=-7139.35;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 1/1:0,409:409:99:10134,716,0:1.000:99 chr11 34937884 rs2956113 G A 2830.95 PASS AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4426;MQ=55.80;MQ0=0;QD=26.96;SB=-1496.16;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 1/1:0,105:105:99:2864,208,0:1.000:99 chr11 34937901 rs2956112;rs11549076 A G 2306.62 PASS AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8110;MQ=56.47;MQ0=0;QD=29.57;SB=-1235.08;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 1/1:0,78:78:99:2340,178,0:1.000:99 chr11 34937931 rs2956111 G A 2142.89 PASS AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.8430;MQ=55.45;MQ0=0;QD=34.01;SB=-695.58;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 1/1:0,62:63:99:2176,172,0:1.000:99 chr11 34938115 rs2956110 C A 5852.32 PASS AC=2;AF=1.00;AN=2;DP=199;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.3026;MQ=48.88;MQ0=0;QD=29.41;SB=-2790.38;TI=NM_001135024,NM_003477,NM_001166158;GI=PDHX,PDHX,PDHX;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,199:199:99:5852,445,0:1.000:99 chr11 34938265 rs2956109 C T 10571.43 PASS AC=2;AF=1.00;AN=2;DP=416;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.5325;MQ=48.28;MQ0=0;QD=25.41;SB=-7913.44;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 1/1:0,416:416:99:10571,746,0:1.000:99 chr11 34981990 rs61752925 G A 8776.01 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.372;DP=651;Dels=0.00;FS=1.623;HRun=0;HaplotypeScore=39.5494;MQ=51.48;MQ0=0;MQRankSum=3.485;QD=13.48;ReadPosRankSum=-0.522;SB=-4480.72;TI=NM_001135024,NM_003477,NM_001166158;GI=PDHX,PDHX,PDHX;FC=Missense_R174H,Missense_R189H,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:313,338:651:99:8776,0,7629:0.519:99 chr11 34991727 rs497582 T C 24945.89 PASS AC=2;AF=1.00;AN=2;DP=887;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=38.2084;MQ=51.38;MQ0=0;QD=28.12;SB=-13811.13;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 1/1:0,886:887:99:24946,1791,0:1.000:99 chr11 35017205 rs9326 G T 4958.31 PASS AC=2;AF=1.00;AN=2;DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2586;MQ=50.68;MQ0=0;QD=26.10;SB=-3189.54;TI=NM_001135024,NM_003477,NM_001166158;GI=PDHX,PDHX,PDHX;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,190:190:99:4958,349,0:1.000:99 chr11 35017363 rs7808 C A 8029.40 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.685;DP=294;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=24.5279;MQ=51.76;MQ0=0;MQRankSum=0.534;QD=27.31;ReadPosRankSum=0.605;SB=-4146.45;TI=NM_001135024,NM_003477,NM_001166158;GI=PDHX,PDHX,PDHX;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,291:294:99:8029,581,0:0.997:99 chr11 36595600 rs3740955 A G 10073.88 PASS AC=2;AF=1.00;AN=2;DP=400;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.5508;MQ=48.59;MQ0=0;QD=25.18;SB=-7682.24;TI=NM_000448;GI=RAG1;FC=Missense_H249R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,400:400:99:10074,710,0:1.000:99 chr11 36596487 . T C 66.09 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.414;DP=305;Dels=0.00;FS=2.695;HRun=1;HaplotypeScore=7.3434;MQ=45.58;MQ0=0;MQRankSum=-1.205;QD=0.22;ReadPosRankSum=-0.458;SB=-0.01;TI=NM_000448;GI=RAG1;FC=Missense_S545P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:278,26:305:96.08:96,0,6620:0.086:66 chr11 36597313 rs2227973 A G 5184.02 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.131;DP=177;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.1942;MQ=55.76;MQ0=0;MQRankSum=-0.035;QD=29.29;ReadPosRankSum=0.798;SB=-2672.36;TI=NM_000448;GI=RAG1;FC=Missense_K820R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,175:177:99:5184,340,0:0.989:99 chr11 36601096 . CT C 704.51 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.086;DP=199;FS=1.186;HRun=12;HaplotypeScore=826.5422;MQ=51.08;MQ0=0;MQRankSum=1.108;QD=3.54;ReadPosRankSum=-0.775;SB=-369.30;TI=NM_000448;GI=RAG1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:134,44:199:99:744,0,2852:0.247:99 chr11 36601170 rs1056403 G A 6110.94 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.047;DP=186;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=22.5621;MQ=53.96;MQ0=0;MQRankSum=1.676;QD=32.85;ReadPosRankSum=0.066;SB=-2996.94;TI=NM_000448;GI=RAG1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,184:186:99:6111,448,0:0.995:99 chr11 36613807 rs10836573 T C 6569.01 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.934;DP=224;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.6232;MQ=55.68;MQ0=0;MQRankSum=1.222;QD=29.33;ReadPosRankSum=-0.740;SB=-3961.95;TI=NM_000536;GI=RAG2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,222:224:99:6569,421,0:0.991:99 chr11 45826721 rs77254044 G A 879.84 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.922;DP=84;Dels=0.00;FS=2.952;HRun=0;HaplotypeScore=5.3165;MQ=47.20;MQ0=0;MQRankSum=-1.450;QD=10.47;ReadPosRankSum=-1.244;SB=-509.25;TI=NM_001145266,NM_001145265,NM_018389;GI=SLC35C1,SLC35C1,SLC35C1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:43,41:84:99:910,0,928:0.488:99 chr11 45832935 rs1139266 G A 559.60 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.405;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=54.20;MQ0=0;MQRankSum=0.139;QD=13.32;ReadPosRankSum=1.347;SB=-293.53;TI=NM_001145266,NM_001145265,NM_018389;GI=SLC35C1,SLC35C1,SLC35C1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,22:42:99:590,0,536:0.524:99 chr11 45834044 rs4756027 C T 2372.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.504;DP=219;Dels=0.00;FS=3.084;HRun=0;HaplotypeScore=20.1016;MQ=46.89;MQ0=0;MQRankSum=-1.423;QD=10.84;ReadPosRankSum=-0.421;SB=-1551.17;TI=NM_001145266,NM_001145265,NM_018389;GI=SLC35C1,SLC35C1,SLC35C1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:106,110:219:99:2403,0,2231:0.509:99 chr11 45834198 rs7943306 T C 104.17 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.876;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6168;MQ=52.65;MQ0=0;MQRankSum=0.876;QD=10.42;ReadPosRankSum=-0.876;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 0/1:5,4:10:99:134,0,157:0.444:99 chr11 47238522 rs326212 T C 9153.85 PASS AC=2;AF=1.00;AN=2;DP=357;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=13.7660;MQ=49.83;MQ0=1;QD=25.64;SB=-6921.52;TI=NM_000107;GI=DDB2;FC=Synonymous_T126T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,357:357:99:9154,644,0:1.000:99 chr11 47460306 rs7126210 A G 9725.61 PASS AC=2;AF=1.00;AN=2;DP=362;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=26.7951;MQ=48.40;MQ0=0;QD=26.87;SB=-6868.16;TI=NM_005055,NM_032645;GI=RAPSN,RAPSN;FC=Synonymous_P381P,Synonymous_P322P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,361:362:99:9726,704,0:1.000:99 chr11 47469439 rs7111873 A G 7572.93 PASS AC=2;AF=1.00;AN=2;DP=295;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.5510;MQ=47.53;MQ0=0;QD=25.67;SB=-4920.47;TI=NM_005055,NM_032645;GI=RAPSN,RAPSN;FC=Synonymous_Y152Y,Synonymous_Y152Y;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,294:295:99:7573,539,0:1.000:99 chr11 63988045 rs3802932 G A 10024.81 PASS AC=2;AF=1.00;AN=2;DP=374;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.6906;MQ=54.35;MQ0=0;QD=26.80;SB=-6517.78;TI=NM_178443,NM_031471;GI=FERMT3,FERMT3;FC=Synonymous_P487P,Synonymous_P483P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,373:374:99:10025,716,0:1.000:99 chr11 65485727 rs521678 T G 4849.05 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.423;DP=189;Dels=0.01;FS=0.000;HRun=2;HaplotypeScore=10.0688;MQ=53.29;MQ0=1;MQRankSum=-0.856;QD=25.66;ReadPosRankSum=-0.686;SB=-3312.58;TI=NM_182709,NM_006388,NM_182710,NM_032193;GI=KAT5,KAT5,KAT5,RNASEH2C;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,186:188:99:4849,346,0:0.989:99 chr11 65636053 rs601314 T C 7073.50 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.682;DP=279;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5757;MQ=49.24;MQ0=0;MQRankSum=1.645;QD=25.35;ReadPosRankSum=0.466;SB=-5020.75;TI=NM_016938;GI=EFEMP2;FC=Missense_I259V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,278:279:99:7073,497,0:0.996:99 chr11 65638719 rs633800 G A 1227.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.254;DP=105;Dels=0.00;FS=0.750;HRun=0;HaplotypeScore=6.6263;MQ=48.53;MQ0=0;MQRankSum=0.595;QD=11.69;ReadPosRankSum=0.646;SB=-717.75;TI=NM_016938;GI=EFEMP2;FC=Synonymous_H92H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,57:105:99:1258,0,1014:0.543:99 chr11 65640204 rs2303384 C T 2976.45 PASS AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.3631;MQ=45.96;MQ0=0;QD=22.21;SB=-2308.90;TI=NM_016938;GI=EFEMP2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,134:134:99:3009,208,0:1.000:99 chr11 67758771 rs10896285 G T 1071.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.009;DP=95;Dels=0.00;FS=1.703;HRun=0;HaplotypeScore=5.1584;MQ=55.72;MQ0=0;MQRankSum=-0.495;QD=11.28;ReadPosRankSum=-0.860;SB=-581.47;TI=NM_030930;GI=UNC93B1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,47:95:99:1101,0,1095:0.495:99 chr11 67763224 rs12660 G A 4214.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.413;DP=567;Dels=0.00;FS=0.665;HRun=0;HaplotypeScore=23.2528;MQ=50.27;MQ0=15;MQRankSum=2.374;QD=7.43;ReadPosRankSum=1.792;SB=-2759.70;TI=NM_030930;GI=UNC93B1;FC=Missense_P407L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:345,222:567:99:4214,0,7682:0.392:99 chr11 67765163 rs5792426 A AG 8360.90 PASS AC=2;AF=1.00;AN=2;DP=203;FS=0.000;HRun=1;HaplotypeScore=153.2607;MQ=58.46;MQ0=0;QD=41.19;SB=-3771.05;TI=NM_030930;GI=UNC93B1;FC=Frameshift;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,197:203:99:8361,596,0:1.000:99 chr11 67814979 rs2471829 G C 5904.19 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.643;DP=233;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.0142;MQ=49.35;MQ0=0;MQRankSum=-0.052;QD=25.34;ReadPosRankSum=1.316;SB=-4082.90;TI=NM_006019,NM_006053;GI=TCIRG1,TCIRG1;FC=Synonymous_L415L,Synonymous_L199L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,232:233:99:5904,424,0:0.996:99 chr11 68523187 . T G 20.16 LowGQ;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DP=3;Dels=0.00;FS=4.771;HRun=0;HaplotypeScore=0.8941;MQ=29.00;MQ0=0;MQRankSum=-0.736;QD=6.72;ReadPosRankSum=-0.736;SB=-1.26;TI=NM_001031847,NM_001876;GI=CPT1A,CPT1A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,2:3:24.42:50,0,24:0.667:20 chr11 68523208 . A G 68.27 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;BaseQRankSum=0.727;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7424;MQ=29.00;MQ0=0;MQRankSum=-0.727;QD=11.38;ReadPosRankSum=0.727;SB=-0.01;TI=NM_001031847,NM_001876;GI=CPT1A,CPT1A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,3:6:9.02:100,9,0:0.750:9 chr11 68523212 . T G 42.50 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.550;DP=7;Dels=0.00;FS=3.680;HRun=0;HaplotypeScore=8.4777;MQ=35.14;MQ0=0;MQRankSum=-0.937;QD=6.07;ReadPosRankSum=1.754;SB=-0.01;TI=NM_001031847,NM_001876;GI=CPT1A,CPT1A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,3:7:72.49:72,0,117:0.429:42 chr11 68523215 . C T 49.51 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.537;DP=6;Dels=0.00;FS=3.979;HRun=6;HaplotypeScore=0.9947;MQ=36.07;MQ0=0;MQRankSum=0.406;QD=8.25;ReadPosRankSum=1.537;SB=0.05;TI=NM_001031847,NM_001876;GI=CPT1A,CPT1A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,3:6:50.43:79,0,50:0.500:49 chr11 68523910 rs2278908 T C 3744.33 PASS AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2586;MQ=54.61;MQ0=0;QD=27.53;SB=-1949.08;TI=NM_001031847,NM_001876;GI=CPT1A,CPT1A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,134:136:99:3744,271,0:1.000:99 chr11 68524053 rs2278907 G A 2762.68 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.282;DP=100;Dels=0.00;FS=3.829;HRun=0;HaplotypeScore=11.8984;MQ=49.29;MQ0=0;MQRankSum=1.663;QD=27.63;ReadPosRankSum=1.697;SB=-1514.39;TI=NM_001031847,NM_001876;GI=CPT1A,CPT1A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,99:100:99:2796,174,0:0.990:99 chr11 68549340 rs2228502 A G 15676.06 PASS AC=2;AF=1.00;AN=2;DP=620;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=22.0609;MQ=50.84;MQ0=0;QD=25.28;SB=-11765.24;TI=NM_001031847,NM_001876;GI=CPT1A,CPT1A;FC=Synonymous_F417F,Synonymous_F417F;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,620:620:99:15676,1102,0:1.000:99 chr11 68671477 rs1249463 T C 11774.52 PASS AC=2;AF=1.00;AN=2;DP=462;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=32.2362;MQ=49.74;MQ0=0;QD=25.49;SB=-8499.33;TI=NM_002180;GI=IGHMBP2;FC=Synonymous_L19L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,462:462:99:11775,852,0:1.000:99 chr11 68678962 rs560096 T C 7963.61 PASS AC=2;AF=1.00;AN=2;DP=321;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.5567;MQ=49.40;MQ0=0;QD=24.81;SB=-5826.13;TI=NM_002180;GI=IGHMBP2;FC=Missense_L201S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,321:321:99:7964,557,0:1.000:99 chr11 68703959 rs622082 A G 1070.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.797;DP=82;Dels=0.00;FS=1.916;HRun=0;HaplotypeScore=2.6548;MQ=51.80;MQ0=0;MQRankSum=0.435;QD=13.06;ReadPosRankSum=-2.033;SB=-693.48;TI=NM_002180;GI=IGHMBP2;FC=Missense_T671A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,49:82:99:1101,0,733:0.598:99 chr11 68704264 rs546382 C T 1383.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.759;DP=120;Dels=0.00;FS=1.479;HRun=0;HaplotypeScore=10.2295;MQ=49.76;MQ0=0;MQRankSum=1.623;QD=11.53;ReadPosRankSum=1.061;SB=-920.65;TI=NM_002180;GI=IGHMBP2;FC=Synonymous_S772S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:54,64:120:99:1414,0,1102:0.542:99 chr11 68705674 rs17612126 C A 3539.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.852;DP=319;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=19.2416;MQ=49.71;MQ0=0;MQRankSum=-0.008;QD=11.09;ReadPosRankSum=2.844;SB=-2372.46;TI=NM_002180;GI=IGHMBP2;FC=Missense_T879K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:162,157:319:99:3539,0,3660:0.492:99 chr11 68707454 rs564244 T C 1969.21 PASS AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8552;MQ=53.23;MQ0=0;QD=28.13;SB=-994.25;TI=NM_002180;GI=IGHMBP2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,70:70:99:2002,147,0:1.000:99 chr11 68707626 rs3750980 C T 2258.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.248;DP=252;Dels=0.00;FS=1.538;HRun=0;HaplotypeScore=10.2850;MQ=48.15;MQ0=0;MQRankSum=0.242;QD=8.96;ReadPosRankSum=-2.421;SB=-1707.02;TI=NM_002180;GI=IGHMBP2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:144,108:252:99:2289,0,3147:0.429:99 chr11 71145687 rs7690 T C 6788.72 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.653;DP=264;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.0170;MQ=46.76;MQ0=0;MQRankSum=0.053;QD=25.71;ReadPosRankSum=-1.031;SB=-4472.85;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,261:264:99:6789,485,0:0.996:99 chr11 71145778 rs1044535 G A 2306.08 PASS AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.73;MQ0=0;QD=28.83;SB=-1488.34;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,80:80:99:2339,169,0:1.000:99 chr11 71145941 rs1790345 G A 1595.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.669;DP=192;Dels=0.00;FS=1.854;HRun=1;HaplotypeScore=13.1857;MQ=49.20;MQ0=0;MQRankSum=-1.489;QD=8.31;ReadPosRankSum=0.854;SB=-1061.36;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:116,76:192:99:1626,0,2438:0.396:99 chr11 71146577 rs909217 G A 525.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.134;DP=85;Dels=0.00;FS=0.855;HRun=0;HaplotypeScore=5.5207;MQ=50.76;MQ0=0;MQRankSum=-0.709;QD=6.18;ReadPosRankSum=-0.626;SB=-412.97;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Synonymous_G424G,Synonymous_G424G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:56,29:85:99:555,0,1307:0.341:99 chr11 71146691 rs760241 A G 1336.31 PASS AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=54.86;MQ0=0;QD=26.73;SB=-871.09;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Synonymous_D386D,Synonymous_D386D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,50:50:99:1369,99,0:1.000:99 chr11 71152461 rs949177 A G 7565.68 PASS AC=2;AF=1.00;AN=2;DP=293;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.7314;MQ=50.01;MQ0=0;QD=25.82;SB=-4854.17;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Synonymous_N146N,Synonymous_N146N;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,293:293:99:7566,533,0:1.000:99 chr11 71155153 rs1790334 A G 7825.25 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.901;DP=320;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=15.1130;MQ=49.08;MQ0=0;MQRankSum=1.315;QD=24.45;ReadPosRankSum=0.893;SB=-6073.38;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Synonymous_T69T,Synonymous_T69T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,318:320:99:7825,503,0:0.994:99 chr11 71155171 rs1044482 C T 3967.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.492;DP=392;Dels=0.00;FS=1.197;HRun=1;HaplotypeScore=15.4892;MQ=47.58;MQ0=0;MQRankSum=0.037;QD=10.12;ReadPosRankSum=0.701;SB=-2940.35;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Synonymous_Q63Q,Synonymous_Q63Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:205,186:392:99:3968,0,4308:0.476:99 chr11 71159429 rs4944946 G A 3815.43 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.136;DP=279;Dels=0.00;FS=4.262;HRun=1;HaplotypeScore=16.3331;MQ=51.73;MQ0=0;MQRankSum=0.118;QD=13.68;ReadPosRankSum=1.943;SB=-2660.11;TI=NM_001163817,NM_001360;GI=DHCR7,DHCR7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:104,173:279:99:3815,0,2114:0.625:99 chr11 71900964 rs2071010 G A 4662.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.666;DP=430;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.3096;MQ=51.57;MQ0=0;MQRankSum=1.355;QD=10.84;ReadPosRankSum=-0.153;SB=-3500.04;TI=NM_016724,NM_016725,NM_000802;GI=FOLR1,FOLR1,FOLR1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:208,222:430:99:4662,0,4468:0.516:99 chr11 76853783 rs1052030 T C 2691.43 PASS AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6476;MQ=52.01;MQ0=0;QD=26.13;SB=-1590.28;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 1/1:0,103:103:99:2724,193,0:1.000:99 chr11 77811990 rs1263505 T C 6444.96 PASS AC=2;AF=1.00;AN=2;DP=265;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.3627;MQ=49.92;MQ0=0;QD=24.32;SB=-4848.78;TI=NM_024079,NM_001007027;GI=ALG8,ALG8;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,263:265:99:6445,451,0:1.000:99 chr11 77813941 rs640016 T C 2508.07 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.521;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.1366;MQ=52.08;MQ0=0;MQRankSum=-1.233;QD=32.57;ReadPosRankSum=-2.130;SB=-209.79;TI=NM_024079,NM_001007027;GI=ALG8,ALG8;FC=Silent,Synonymous_X468X;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,75:77:99:2541,148,0:0.974:99 chr11 103029516 rs688906 A G 23516.96 PASS AC=2;AF=1.00;AN=2;DP=770;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=22.8565;MQ=54.59;MQ0=0;QD=30.54;SB=-9652.55;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Missense_K1413R,Missense_K1413R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,770:770:99:23517,1722,0:1.000:99 chr11 103047007 rs585692 C A 17981.37 PASS AC=2;AF=1.00;AN=2;DP=659;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=25.7301;MQ=53.10;MQ0=0;QD=27.29;SB=-12539.58;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Synonymous_T1906T,Synonymous_T1906T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,659:659:99:17981,1288,0:1.000:99 chr11 103052558 rs11225584 T C 9182.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=6.574;DP=803;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=52.1320;MQ=53.96;MQ0=0;MQRankSum=4.017;QD=11.43;ReadPosRankSum=-1.734;SB=-5241.60;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Synonymous_N2140N,Synonymous_N2140N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:432,369:803:99:9182,0,10912:0.461:99 chr11 103057048 rs658804 A G 5484.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.618;DP=549;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=19.0933;MQ=48.49;MQ0=0;MQRankSum=4.789;QD=9.99;ReadPosRankSum=-0.791;SB=-3718.02;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Synonymous_R2237R,Synonymous_R2237R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:295,253:549:99:5485,0,6363:0.462:99 chr11 103058126 rs586592 C T 3870.84 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.384;DP=378;Dels=0.00;FS=5.933;HRun=1;HaplotypeScore=7.2453;MQ=46.98;MQ0=0;MQRankSum=-1.238;QD=10.24;ReadPosRankSum=3.090;SB=-2838.10;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Synonymous_H2317H,Synonymous_H2317H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:200,178:378:99:3871,0,4604:0.471:99 chr11 103082590 rs589623 G A 18942.17 PASS AC=2;AF=1.00;AN=2;DP=661;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=26.3172;MQ=51.26;MQ0=0;QD=28.66;SB=-11741.01;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Missense_R2871Q,Missense_R2871Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,660:661:99:18942,1357,0:1.000:99 chr11 103229027 rs2566913 T C 20375.90 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.812;DP=747;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=45.8955;MQ=52.15;MQ0=0;MQRankSum=-0.412;QD=27.28;ReadPosRankSum=-1.966;SB=-14074.10;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Synonymous_D4039D,Synonymous_D4032D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,744:747:99:20376,1427,0:0.997:99 chr11 103350192 . A G 6615.78 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.440;DP=581;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=23.8380;MQ=55.09;MQ0=0;MQRankSum=3.588;QD=11.39;ReadPosRankSum=0.756;SB=-3309.52;TI=NM_001080463,NM_001377;GI=DYNC2H1,DYNC2H1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:313,267:581:99:6616,0,7685:0.460:99 chr11 108018716 rs2280332 A C 1188.28 PASS AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.0454;MQ=58.29;MQ0=0;QD=28.98;SB=-708.59;TI=NM_000019;GI=ACAT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,41:41:90.29:1221,90,0:1.000:90 chr11 108183167 rs659243 A G 28194.21 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.713;DP=1111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=44.2020;MQ=52.19;MQ0=1;MQRankSum=0.478;QD=25.38;ReadPosRankSum=-0.531;SB=-20398.08;TI=NM_000051;GI=ATM;FC=Missense_N1983S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,1108:1111:99:28194,1984,0:0.999:99 chr11 108236756 . C CAA,CA 587.24 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=0.010;DP=82;FS=0.000;HaplotypeScore=557.0186;MQ=40.58;MQ0=0;MQRankSum=-1.589;QD=7.16;ReadPosRankSum=-0.542;SB=-240.34;TI=NM_000051;GI=ATM;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:44,10,17:82:99:665,138,356,159,0,186:0.380:99 chr11 108236776 . C A 345.40 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.138;DP=81;Dels=0.01;FS=83.742;HRun=19;HaplotypeScore=59.5410;MQ=40.36;MQ0=0;MQRankSum=-3.998;QD=4.26;ReadPosRankSum=-2.442;SB=-0.01;TI=NM_000051;GI=ATM;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:52,25:80:99:375,0,1346:0.325:99 chr11 108239015 . CA C 1610.37 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-3.535;DP=464;FS=0.365;HRun=17;HaplotypeScore=1713.8446;MQ=48.85;MQ0=0;MQRankSum=2.125;QD=3.47;ReadPosRankSum=-1.895;SB=-714.16;TI=NM_000051;GI=ATM;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:279,79:464:99:1649,0,2889:0.221:99 chr11 111654648 rs2554994 T A 658.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.813;DP=79;Dels=0.00;FS=0.914;HRun=15;HaplotypeScore=52.0369;MQ=53.16;MQ0=0;MQRankSum=0.268;QD=8.34;ReadPosRankSum=-0.985;SB=-350.01;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 0/1:49,30:79:99:689,0,1125:0.380:99 chr11 111656150 . G A 625.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.582;DP=66;Dels=0.00;FS=1.155;HRun=0;HaplotypeScore=7.4630;MQ=56.45;MQ0=0;MQRankSum=0.371;QD=9.47;ReadPosRankSum=0.276;SB=-152.45;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 0/1:40,25:66:99:655,0,1095:0.385:99 chr11 111656464 . T C 3108.49 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.080;DP=287;Dels=0.00;FS=0.432;HRun=0;HaplotypeScore=20.8794;MQ=51.60;MQ0=0;MQRankSum=0.935;QD=10.83;ReadPosRankSum=0.745;SB=-2188.99;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 0/1:144,141:287:99:3138,0,3146:0.495:99 chr11 111724133 rs10502151 C T 4738.99 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.054;DP=400;Dels=0.00;FS=0.753;HRun=0;HaplotypeScore=13.5894;MQ=48.22;MQ0=0;MQRankSum=2.446;QD=11.85;ReadPosRankSum=0.876;SB=-3262.22;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 0/1:189,209:400:99:4739,0,4240:0.525:99 chr11 111742145 rs10708475 CG C 13744.25 PASS AC=2;AF=1.00;AN=2;DP=308;FS=0.000;HRun=4;HaplotypeScore=253.4828;MQ=52.19;MQ0=0;QD=44.62;SB=-5050.99;TI=NM_024740,NM_001077690;GI=ALG9,ALG9;FC=Frameshift,Frameshift;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,306:308:99:13744,921,0:1.000:99 chr11 118175439 rs2231440 G A 4499.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.417;DP=446;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.0266;MQ=47.99;MQ0=0;MQRankSum=-2.051;QD=10.09;ReadPosRankSum=1.161;SB=-2845.26;TI=NM_000733;GI=CD3E;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:244,202:446:99:4499,0,5440:0.453:99 chr11 118178007 rs4606515 C T 7162.61 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.627;DP=700;Dels=0.00;FS=7.216;HRun=0;HaplotypeScore=75.3999;MQ=52.74;MQ0=0;MQRankSum=4.872;QD=10.23;ReadPosRankSum=0.236;SB=-4992.47;TI=NM_000733;GI=CD3E;FC=Synonymous_G18G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:369,329:699:99:7163,0,8295:0.471:99 chr11 118186749 . A C 113.03 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-3.763;DP=101;Dels=0.02;FS=54.327;HRun=5;HaplotypeScore=96.9330;MQ=48.38;MQ0=0;MQRankSum=-4.490;QD=1.12;ReadPosRankSum=1.521;SB=-0.01;TI=NM_000733;GI=CD3E;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:82,14:99:99:143,0,2254:0.146:99 chr11 118215075 . AGGCT A 5929.77 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.599;DP=244;FS=2.306;HRun=0;HaplotypeScore=160.9863;MQ=49.12;MQ0=1;MQRankSum=-1.622;QD=24.30;ReadPosRankSum=3.254;SB=-2670.40;TI=NM_000073;GI=CD3G;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:138,106:243:99:5930,0,6739:0.434:99 chr11 118221349 rs3753059 T C 5424.99 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.474;DP=475;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=39.1806;MQ=49.23;MQ0=0;MQRankSum=-0.776;QD=11.42;ReadPosRankSum=0.289;SB=-3782.70;TI=NM_000073;GI=CD3G;FC=Synonymous_A130A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:225,250:475:99:5425,0,4726:0.526:99 chr11 118221350 rs3753058 G T 5506.61 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.026;DP=487;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=39.2080;MQ=48.96;MQ0=0;MQRankSum=0.157;QD=11.31;ReadPosRankSum=1.089;SB=-3836.55;TI=NM_000073;GI=CD3G;FC=Missense_V131F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:234,252:487:99:5507,0,4973:0.519:99 chr11 118224239 . CTT C 266.14 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DP=83;FS=0.000;HRun=26;HaplotypeScore=724.3283;MQ=31.65;MQ0=0;MQRankSum=0.876;QD=3.21;ReadPosRankSum=-0.179;SB=-84.56;TI=NM_000073;GI=CD3G;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:55,7:82:99:305,0,591:0.113:99 chr11 118224268 rs45477194 G T 1424.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.659;DP=106;Dels=0.02;FS=0.000;HRun=0;HaplotypeScore=90.1152;MQ=35.00;MQ0=0;MQRankSum=-1.666;QD=13.44;ReadPosRankSum=-0.828;SB=-314.04;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:42,58:104:99:1454,0,771:0.580:99 chr11 118224418 . G T 98.39 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.424;DP=33;Dels=0.00;FS=8.076;HRun=5;HaplotypeScore=2.7776;MQ=45.34;MQ0=0;MQRankSum=-2.824;QD=2.98;ReadPosRankSum=-3.244;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,6:33:99:128,0,643:0.182:98 chr11 118224420 . A T 98.40 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.330;DP=33;Dels=0.00;FS=8.076;HRun=5;HaplotypeScore=2.7776;MQ=45.34;MQ0=0;MQRankSum=-3.011;QD=2.98;ReadPosRankSum=-3.244;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,6:33:99:128,0,633:0.182:98 chr11 118224426 . A T 107.42 SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.346;DP=31;Dels=0.00;FS=5.402;HRun=5;HaplotypeScore=6.7250;MQ=44.23;MQ0=0;MQRankSum=-2.575;QD=3.47;ReadPosRankSum=-3.331;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,7:31:99:137,0,535:0.226:99 chr11 118224427 . G T 101.41 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=2.575;DP=31;Dels=0.00;FS=5.297;HRun=1;HaplotypeScore=6.7250;MQ=44.23;MQ0=0;MQRankSum=-2.775;QD=3.27;ReadPosRankSum=-2.925;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:25,6:31:99:131,0,588:0.194:99 chr11 118224429 . A T 101.40 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.225;DP=31;Dels=0.00;FS=5.374;HRun=1;HaplotypeScore=6.7250;MQ=44.23;MQ0=0;MQRankSum=-3.275;QD=3.27;ReadPosRankSum=-2.925;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:25,6:31:99:131,0,599:0.194:99 chr11 118224440 . T C 78.13 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.281;DP=27;Dels=0.00;FS=5.557;HRun=0;HaplotypeScore=1.8924;MQ=44.94;MQ0=0;MQRankSum=-2.590;QD=2.89;ReadPosRankSum=-2.840;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,5:27:99:108,0,496:0.185:78 chr11 118224442 . T G 69.26 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.468;DP=27;Dels=0.00;FS=5.477;HRun=1;HaplotypeScore=1.8924;MQ=44.94;MQ0=0;MQRankSum=-2.902;QD=2.57;ReadPosRankSum=-2.840;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,5:27:99:99,0,532:0.185:69 chr11 118224450 . T C 38.84 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.297;DP=25;Dels=0.00;FS=2.673;HRun=0;HaplotypeScore=0.8941;MQ=45.51;MQ0=0;MQRankSum=-2.780;QD=1.55;ReadPosRankSum=-2.854;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,4:25:68.83:69,0,520:0.160:38 chr11 118224451 . G A 38.83 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.111;DP=25;Dels=0.00;FS=2.673;HRun=0;HaplotypeScore=0.8941;MQ=45.51;MQ0=0;MQRankSum=-2.631;QD=1.55;ReadPosRankSum=-2.854;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,4:25:68.82:69,0,535:0.160:38 chr11 118224452 . G C 38.83 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.259;DP=25;Dels=0.00;FS=2.673;HRun=2;HaplotypeScore=0.8941;MQ=45.51;MQ0=0;MQRankSum=-2.706;QD=1.55;ReadPosRankSum=-2.854;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,4:25:68.82:69,0,533:0.160:38 chr11 118224456 . A G 49.58 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.259;DP=25;Dels=0.00;FS=2.682;HRun=1;HaplotypeScore=0.8941;MQ=45.51;MQ0=0;MQRankSum=-2.483;QD=1.98;ReadPosRankSum=-3.150;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,4:25:79.58:80,0,490:0.160:49 chr11 118224483 . T C 25.43 LowVariantFreq;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.303;DP=18;Dels=0.00;FS=2.667;HRun=0;HaplotypeScore=1.7608;MQ=45.72;MQ0=0;MQRankSum=-2.606;QD=1.41;ReadPosRankSum=-0.948;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,3:18:55.41:55,0,373:0.167:25 chr11 118224487 . C T 28.44 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.371;DP=15;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=42.28;MQ0=0;MQRankSum=-2.526;QD=1.90;ReadPosRankSum=-0.217;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,3:15:58.43:58,0,309:0.200:28 chr11 118224489 . G T 34.21 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.227;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=42.28;MQ0=0;MQRankSum=-2.670;QD=2.28;ReadPosRankSum=0.072;SB=-0.01;TI=NM_000073;GI=CD3G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,3:15:64.20:64,0,313:0.200:34 chr11 118895202 rs11006 A G 1051.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.098;DP=106;Dels=0.00;FS=0.738;HRun=0;HaplotypeScore=10.5378;MQ=54.04;MQ0=0;MQRankSum=-0.917;QD=9.92;ReadPosRankSum=0.714;SB=-693.14;TI=NM_001164280,NM_001467,NM_001164278,NM_001164279,NM_001164277;GI=SLC37A4,SLC37A4,SLC37A4,SLC37A4,SLC37A4;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:58,48:106:99:1081,0,1308:0.453:99 chr11 118895495 rs8301 C G 2938.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.265;DP=276;Dels=0.00;FS=0.452;HRun=0;HaplotypeScore=22.3534;MQ=49.04;MQ0=0;MQRankSum=1.865;QD=10.65;ReadPosRankSum=-1.089;SB=-1651.51;TI=NM_001164280,NM_001467,NM_001164278,NM_001164279,NM_001164277;GI=SLC37A4,SLC37A4,SLC37A4,SLC37A4,SLC37A4;FC=Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:146,130:276:99:2968,0,3408:0.471:99 chr11 118895686 rs8192696 C T 1805.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.553;DP=169;Dels=0.00;FS=0.572;HRun=0;HaplotypeScore=5.4832;MQ=51.67;MQ0=0;MQRankSum=2.527;QD=10.69;ReadPosRankSum=0.398;SB=-1347.09;TI=NM_001164280,NM_001467,NM_001164278,NM_001164279,NM_001164277;GI=SLC37A4,SLC37A4,SLC37A4,SLC37A4,SLC37A4;FC=Missense_G409S,Missense_G409S,Missense_G431S,Missense_G336S,Missense_G409S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:87,82:169:99:1836,0,1862:0.485:99 chr11 118898435 rs5795159 AC A 12029.09 PASS AC=2;AF=1.00;AN=2;DP=302;FS=0.000;HRun=2;HaplotypeScore=121.8037;MQ=48.26;MQ0=0;QD=39.83;SB=-5942.50;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 1/1:14,288:302:99:12029,867,0:0.954:99 chr11 118901166 rs2846281 C G 4736.68 PASS AC=2;AF=1.00;AN=2;DP=182;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.7471;MQ=50.67;MQ0=0;QD=26.03;SB=-3284.39;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 1/1:0,182:182:99:4737,337,0:1.000:99 chr11 118901262 rs3759012 C T 2024.79 PASS AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5055;MQ=54.64;MQ0=0;QD=28.93;SB=-1116.13;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 1/1:0,69:70:99:2058,153,0:1.000:99 chr11 118901614 rs1784559 A T 4124.97 PASS AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.9178;MQ=52.69;MQ0=0;QD=28.85;SB=-1907.32;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 1/1:0,143:143:99:4125,310,0:1.000:99 chr11 118967291 rs7759 A G 4731.63 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.643;DP=195;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1527;MQ=47.26;MQ0=0;MQRankSum=-0.400;QD=24.26;ReadPosRankSum=0.346;SB=-3590.05;TI=NM_001382;GI=DPAGT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,194:195:99:4732,331,0:0.995:99 chr11 118967524 rs8551 C T 8885.20 PASS AC=2;AF=1.00;AN=2;DP=353;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8907;MQ=47.23;MQ0=0;QD=25.17;SB=-6079.94;TI=NM_001382;GI=DPAGT1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,353:353:99:8885,623,0:1.000:99 chr11 118967758 rs643788 T C 12786.71 PASS AC=2;AF=1.00;AN=2;DP=486;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=28.2557;MQ=49.67;MQ0=0;QD=26.31;SB=-8620.83;TI=NM_001382;GI=DPAGT1;FC=Missense_I393V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,485:486:99:12787,909,0:1.000:99 chr11 121178302 rs1061332 A C 7614.21 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.720;DP=285;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.2946;MQ=52.21;MQ0=0;MQRankSum=1.611;QD=26.72;ReadPosRankSum=0.480;SB=-5240.24;TI=NM_006918,NM_001024956;GI=SC5DL,SC5DL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,284:285:99:7614,551,0:0.996:99 chr11 121179847 rs2060008 A T 4812.87 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.536;DP=141;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.3603;MQ=57.86;MQ0=0;MQRankSum=1.634;QD=34.13;ReadPosRankSum=0.897;SB=-1650.56;TI=NM_006918,NM_001024956;GI=SC5DL,SC5DL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,140:141:99:4813,336,0:0.993:99 chr11 121181164 . CTTT C,CTT 589.29 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-0.059;DP=67;FS=2.620;HaplotypeScore=325.5159;MQ=36.04;MQ0=0;MQRankSum=-0.059;QD=8.80;ReadPosRankSum=1.136;SB=-278.97;TI=NM_006918,NM_001024956;GI=SC5DL,SC5DL;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:27,8,0:67:99:667,232,839,166,0,223:0.229:99 chr11 121181343 . A T 280.61 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.460;DP=23;Dels=0.04;FS=17.559;HRun=6;HaplotypeScore=10.5860;MQ=39.15;MQ0=0;MQRankSum=-3.349;QD=12.20;ReadPosRankSum=-3.283;SB=-0.01;TI=NM_006918,NM_001024956;GI=SC5DL,SC5DL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,11:22:99:311,0,265:0.500:99 chr11 121181345 . A T 295.56 SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.769;DP=23;Dels=0.00;FS=18.623;HRun=5;HaplotypeScore=11.6249;MQ=39.15;MQ0=0;MQRankSum=-3.785;QD=12.85;ReadPosRankSum=-3.354;SB=-0.01;TI=NM_006918,NM_001024956;GI=SC5DL,SC5DL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,12:23:99:326,0,250:0.522:99 chr11 121181362 . G A 266.33 SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.460;DP=23;Dels=0.00;FS=20.901;HRun=0;HaplotypeScore=8.6216;MQ=39.15;MQ0=0;MQRankSum=-2.889;QD=11.58;ReadPosRankSum=-3.480;SB=-0.01;TI=NM_006918,NM_001024956;GI=SC5DL,SC5DL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,11:23:99:296,0,246:0.500:99 chr11 121183145 rs35288685 T C 10185.10 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.509;DP=343;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=25.9367;MQ=53.92;MQ0=0;MQRankSum=-0.304;QD=29.69;ReadPosRankSum=-0.375;SB=-6447.65;TI=NM_006918,NM_001024956;GI=SC5DL,SC5DL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,341:343:99:10185,727,0:0.997:99 chr11 128737188 rs2855790 A G 14534.86 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.095;DP=546;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=39.7852;MQ=51.20;MQ0=0;MQRankSum=-0.431;QD=26.62;ReadPosRankSum=0.400;SB=-9155.72;TI=NM_153765,NM_153764,NM_153766,NM_153767;GI=KCNJ1,KCNJ1,KCNJ1,KCNJ1;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,545:546:99:14535,1004,0:0.998:99 chr12 6457062 rs2228576 T C 228.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.304;DP=20;Dels=0.00;FS=3.468;HRun=0;HaplotypeScore=0.8941;MQ=57.66;MQ0=0;MQRankSum=0.684;QD=11.44;ReadPosRankSum=-0.152;SB=-40.01;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 0/1:11,9:20:99:259,0,358:0.450:99 chr12 6457161 . C A 20.21 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=8;Dels=0.00;FS=3.680;HRun=0;HaplotypeScore=0.0000;MQ=57.05;MQ0=0;MQRankSum=-1.589;QD=2.53;ReadPosRankSum=-1.589;SB=-0.01;TI=NM_001159576,NM_001038,NM_001159575;GI=SCNN1A,SCNN1A,SCNN1A;FC=Missense_G689C,Missense_G630C,Missense_G653C;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,2:8:50.17:50,0,167:0.250:20 chr12 6484709 rs10849447 T C 13056.96 PASS AC=2;AF=1.00;AN=2;DP=484;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=33.1217;MQ=48.96;MQ0=0;QD=26.98;SB=-7289.46;TI=NM_001038,NM_001159575;GI=SCNN1A,SCNN1A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,481:484:99:13057,963,0:1.000:99 chr12 32735236 rs904582 C T 1806.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.207;DP=180;Dels=0.00;FS=1.170;HRun=0;HaplotypeScore=4.4704;MQ=51.84;MQ0=0;MQRankSum=0.287;QD=10.04;ReadPosRankSum=-1.093;SB=-1221.19;TI=NM_139241;GI=FGD4;FC=Synonymous_D145D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:97,83:180:99:1837,0,2279:0.461:99 chr12 32797822 . CA C 745.71 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.393;DP=208;FS=1.786;HRun=14;HaplotypeScore=432.0147;MQ=55.21;MQ0=0;MQRankSum=0.645;QD=3.59;ReadPosRankSum=-0.103;SB=-386.58;TI=NM_139241;GI=FGD4;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:129,45:208:99:785,0,2193:0.259:99 chr12 32798458 rs1239830 A G 4860.11 PASS AC=2;AF=1.00;AN=2;DP=191;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.7551;MQ=48.31;MQ0=0;QD=25.45;SB=-3503.22;TI=NM_139241;GI=FGD4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,191:191:99:4860,346,0:1.000:99 chr12 48236386 rs2853562 T A 306.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.642;DP=23;Dels=0.00;FS=2.336;HRun=0;HaplotypeScore=25.6225;MQ=38.84;MQ0=0;MQRankSum=0.131;QD=13.32;ReadPosRankSum=1.248;SB=-59.06;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,11:23:99:336,0,213:0.500:99 chr12 48236404 . C T 19.61 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.571;DP=33;Dels=0.03;FS=10.620;HRun=1;HaplotypeScore=47.4821;MQ=38.17;MQ0=0;MQRankSum=0.934;QD=0.59;ReadPosRankSum=-2.335;SB=-0.01;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,5:32:49.55:50,0,503:0.156:19 chr12 48236406 . A T 197.91 SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.719;DP=33;Dels=0.03;FS=25.552;HRun=20;HaplotypeScore=49.2835;MQ=38.17;MQ0=0;MQRankSum=-0.413;QD=6.00;ReadPosRankSum=-2.415;SB=-0.01;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,9:32:99:228,0,504:0.290:99 chr12 48236550 rs2544043 G C 1577.86 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.080;DP=60;Dels=0.00;FS=3.655;HRun=2;HaplotypeScore=6.4397;MQ=53.99;MQ0=0;MQRankSum=2.162;QD=26.30;ReadPosRankSum=2.368;SB=-896.12;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,58:60:89.97:1611,90,0:0.967:89 chr12 48236623 rs9729 G T 3389.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.463;DP=333;Dels=0.00;FS=2.362;HRun=1;HaplotypeScore=17.5153;MQ=47.68;MQ0=0;MQRankSum=1.356;QD=10.18;ReadPosRankSum=-0.378;SB=-2184.91;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:177,155:333:99:3389,0,3734:0.467:99 chr12 48237303 rs11574129 A G 1931.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.118;DP=218;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=14.3162;MQ=49.20;MQ0=0;MQRankSum=-1.141;QD=8.86;ReadPosRankSum=-1.130;SB=-1449.71;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:120,98:218:99:1961,0,2797:0.450:99 chr12 48237307 . T G 2770.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.095;DP=224;Dels=0.00;FS=0.491;HRun=1;HaplotypeScore=12.3207;MQ=49.11;MQ0=0;MQRankSum=1.898;QD=12.37;ReadPosRankSum=1.131;SB=-1951.71;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:104,119:224:99:2801,0,2187:0.534:99 chr12 48237735 rs11574125;rs78783628 CA C 2977.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.722;DP=141;FS=0.000;HRun=1;HaplotypeScore=176.1355;MQ=51.24;MQ0=0;MQRankSum=1.735;QD=21.11;ReadPosRankSum=0.482;SB=-1504.08;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:65,76:141:99:3016,0,2481:0.539:99 chr12 48238068 rs3847987 C A 1088.97 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.313;DP=103;Dels=0.00;FS=2.655;HRun=0;HaplotypeScore=13.4244;MQ=48.41;MQ0=0;MQRankSum=1.698;QD=10.57;ReadPosRankSum=-0.518;SB=-764.68;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:51,52:103:99:1119,0,1103:0.505:99 chr12 48238221 rs739837 G T 1194.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.923;DP=97;Dels=0.00;FS=2.818;HRun=0;HaplotypeScore=5.4324;MQ=53.68;MQ0=0;MQRankSum=0.557;QD=12.31;ReadPosRankSum=-0.411;SB=-688.62;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:42,55:97:99:1224,0,946:0.567:99 chr12 48272895 rs2228570 A G 3885.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.106;DP=341;Dels=0.00;FS=0.403;HRun=0;HaplotypeScore=26.9635;MQ=46.79;MQ0=0;MQRankSum=-0.475;QD=11.39;ReadPosRankSum=0.585;SB=-2322.42;TI=NM_001017535,NM_000376;GI=VDR,VDR;FC=Missense_M1T,Missense_M1T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:169,171:341:99:3886,0,3781:0.503:99 chr12 49579696 rs697624;rs3175263 C G 2231.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.670;DP=214;Dels=0.00;FS=3.329;HRun=1;HaplotypeScore=6.4425;MQ=44.24;MQ0=17;MQRankSum=-0.247;QD=10.43;ReadPosRankSum=0.894;SB=-1587.41;TI=NM_006009;GI=TUBA1A;FC=Synonymous_S151S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:102,112:214:99:2262,0,1886:0.523:99 chr12 49580180 rs1056875 T C 2544.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.205;DP=253;Dels=0.00;FS=3.643;HRun=1;HaplotypeScore=24.1366;MQ=48.34;MQ0=1;MQRankSum=1.077;QD=10.06;ReadPosRankSum=0.161;SB=-1720.83;TI=NM_006009;GI=TUBA1A;FC=Synonymous_K96K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:131,120:253:99:2574,0,2982:0.478:99 chr12 53703021 rs1546808 G A 10279.89 PASS AC=2;AF=1.00;AN=2;DP=401;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=14.3000;MQ=50.04;MQ0=0;QD=25.64;SB=-6650.07;TI=NM_015665,NM_001173466;GI=AAAS,AAAS;FC=Synonymous_F285F,Synonymous_F252F;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,401:401:99:10280,728,0:1.000:99 chr12 56398454 rs773115 G C 8519.73 PASS AC=2;AF=1.00;AN=2;DP=338;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.8406;MQ=48.15;MQ0=0;QD=25.21;SB=-5923.86;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 1/1:0,334:338:99:8520,599,0:1.000:99 chr12 56494991 rs2271189 G A 2074.61 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.337;DP=224;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=16.8841;MQ=49.42;MQ0=0;MQRankSum=4.301;QD=9.26;ReadPosRankSum=3.492;SB=-1421.03;TI=NM_001982;GI=ERBB3;FC=Synonymous_R1116R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:121,103:224:99:2105,0,2602:0.460:99 chr12 56496590 . T A 12.71 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=2.150;DP=27;Dels=0.00;FS=7.465;HRun=28;HaplotypeScore=25.2459;MQ=38.28;MQ0=0;MQRankSum=0.648;QD=0.47;ReadPosRankSum=-1.331;SB=-16.93;TI=NM_001982;GI=ERBB3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:23,4:27:42.47:42,0,609:0.148:12 chr12 56496619 . C A 39.76 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.533;DP=30;Dels=0.03;FS=21.412;HRun=28;HaplotypeScore=23.6022;MQ=36.21;MQ0=0;MQRankSum=-2.239;QD=1.33;ReadPosRankSum=-2.523;SB=-0.01;TI=NM_001982;GI=ERBB3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,4:29:69.76:70,0,494:0.154:39 chr12 58176614 rs10747783 T C 3143.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.255;DP=306;Dels=0.00;FS=2.535;HRun=1;HaplotypeScore=17.5487;MQ=50.83;MQ0=0;MQRankSum=1.284;QD=10.27;ReadPosRankSum=-1.830;SB=-2048.57;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 0/1:154,151:306:99:3174,0,3302:0.495:99 chr12 58196447 rs10783847 G A 5108.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.308;DP=506;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=24.5631;MQ=47.91;MQ0=0;MQRankSum=1.589;QD=10.10;ReadPosRankSum=2.067;SB=-3662.06;TI=NM_001172697,NM_006576;GI=TSFM,AVIL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:270,234:506:99:5108,0,5699:0.464:99 chr12 58196528 rs10783848 G A 5733.32 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.566;DP=553;Dels=0.00;FS=1.752;HRun=2;HaplotypeScore=15.3049;MQ=47.71;MQ0=0;MQRankSum=-0.013;QD=10.37;ReadPosRankSum=4.203;SB=-4373.31;TI=NM_001172697,NM_006576;GI=TSFM,AVIL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:282,271:553:99:5733,0,5925:0.490:99 chr12 88505078 rs2468255 T C 17689.89 PASS AC=2;AF=1.00;AN=2;DP=655;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=35.0884;MQ=51.65;MQ0=0;QD=27.01;SB=-12234.54;TI=NM_025114;GI=CEP290;FC=Synonymous_S756S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,652:655:99:17690,1264,0:1.000:99 chr12 102139485 rs10219650 T C 1577.24 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.685;DP=120;Dels=0.00;FS=4.673;HRun=0;HaplotypeScore=3.9860;MQ=54.43;MQ0=0;MQRankSum=-0.063;QD=13.14;ReadPosRankSum=2.126;SB=-587.82;TI=NM_024312;GI=GNPTAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:61,59:120:99:1607,0,1488:0.492:99 chr12 102140050 . C CCT 4762.48 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.938;DP=270;FS=0.956;HRun=0;HaplotypeScore=251.0431;MQ=52.31;MQ0=0;MQRankSum=8.788;QD=17.64;ReadPosRankSum=4.953;SB=-1937.84;TI=NM_024312;GI=GNPTAB;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:155,110:270:99:4762,0,6223:0.415:99 chr12 102158763 rs10778148 T C 8103.77 PASS AC=2;AF=1.00;AN=2;DP=316;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.4076;MQ=51.02;MQ0=0;QD=25.64;SB=-5624.57;TI=NM_024312;GI=GNPTAB;FC=Synonymous_T644T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,315:316:99:8104,581,0:1.000:99 chr12 102224436 rs4764655 C T 4431.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.349;DP=407;Dels=0.00;FS=0.750;HRun=0;HaplotypeScore=25.4440;MQ=44.04;MQ0=0;MQRankSum=-0.460;QD=10.89;ReadPosRankSum=0.574;SB=-3372.47;TI=NM_024312;GI=GNPTAB;FC=Synonymous_L6L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:198,209:407:99:4432,0,4077:0.514:99 chr12 102224491 . AGCC A 6982.22 PASS AC=2;AF=1.00;AN=2;DP=176;FS=0.000;HRun=0;HaplotypeScore=410.4493;MQ=41.11;MQ0=0;QD=39.67;SB=-3284.53;TI=NM_024312;GI=GNPTAB;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:46,130:176:99:6982,409,0:0.739:99 chr12 102224627 . G C 27.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.358;DP=5;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9832;MQ=44.10;MQ0=0;MQRankSum=-1.231;QD=5.57;ReadPosRankSum=-1.231;SB=-0.01;TI=NM_024312;GI=GNPTAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,3:5:35.73:58,0,36:0.600:27 chr12 102224636 . T C 27.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DP=5;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=44.10;MQ0=0;MQRankSum=-1.231;QD=5.57;ReadPosRankSum=1.231;SB=-0.01;TI=NM_024312;GI=GNPTAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,3:5:35.74:58,0,36:0.600:27 chr12 102224639 . C A 21.13 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=44.10;MQ0=0;MQRankSum=-1.231;QD=4.23;ReadPosRankSum=1.231;SB=0.02;TI=NM_024312;GI=GNPTAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,3:5:34.71:51,0,35:0.600:21 chr12 102224641 . G C 58.27 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DP=5;Dels=0.00;FS=3.979;HRun=0;HaplotypeScore=0.0000;MQ=44.10;MQ0=0;MQRankSum=-1.231;QD=11.65;ReadPosRankSum=1.231;SB=-0.00;TI=NM_024312;GI=GNPTAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,3:5:32.73:88,0,33:0.600:32 chr12 103237468 rs772897 G C 10397.21 PASS AC=2;AF=1.00;AN=2;DP=413;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.1903;MQ=48.86;MQ0=0;QD=25.17;SB=-8037.67;TI=NM_000277;GI=PAH;FC=Synonymous_L385L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,413:413:99:10397,728,0:1.000:99 chr12 103246700 rs1042503 C T 11088.48 PASS AC=2;AF=1.00;AN=2;DP=459;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.3916;MQ=47.75;MQ0=0;QD=24.16;SB=-8741.48;TI=NM_000277;GI=PAH;FC=Synonymous_V245V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,458:459:99:11088,774,0:1.000:99 chr12 109993106 . G T 134.87 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.708;DP=41;Dels=0.05;FS=55.383;HRun=25;HaplotypeScore=34.8679;MQ=36.96;MQ0=0;MQRankSum=-0.772;QD=3.29;ReadPosRankSum=-3.412;SB=0.47;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,11:39:99:165,0,626:0.289:99 chr12 109993108 . G T 113.07 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.315;DP=40;Dels=0.00;FS=41.142;HRun=1;HaplotypeScore=34.8679;MQ=37.13;MQ0=0;MQRankSum=-0.580;QD=2.83;ReadPosRankSum=-3.232;SB=-0.01;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:28,10:40:99:143,0,646:0.263:99 chr12 109993110 . C T 14.09 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.879;DP=38;Dels=0.03;FS=22.253;HRun=0;HaplotypeScore=54.1471;MQ=36.53;MQ0=0;MQRankSum=-1.481;QD=0.37;ReadPosRankSum=-2.787;SB=-0.01;TI=NM_052845;GI=MMAB;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:28,5:37:43.91:44,0,700:0.152:14 chr12 109993254 . ATT A 122.93 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.644;DP=49;FS=3.584;HRun=24;HaplotypeScore=225.0300;MQ=41.71;MQ0=0;MQRankSum=-1.672;QD=2.51;ReadPosRankSum=0.969;SB=-29.22;TI=NM_052845;GI=MMAB;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,6:49:99:162,0,398:0.158:99 chr12 110011515 rs67606936 A G 5656.13 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.526;DP=506;Dels=0.00;FS=1.450;HRun=1;HaplotypeScore=27.8768;MQ=47.62;MQ0=0;MQRankSum=-0.503;QD=11.18;ReadPosRankSum=-1.458;SB=-3632.34;TI=NM_000431,NM_001114185;GI=MVK,MVK;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:249,255:506:99:5656,0,5387:0.506:99 chr12 122064773 . CCCGCCA C 4559.20 PASS AC=2;AF=1.00;AN=2;DP=62;FS=0.000;HRun=0;HaplotypeScore=19.7362;MQ=40.56;MQ0=0;QD=73.54;SB=-1820.17;TI=NM_032790;GI=ORAI1;FC=2AA_Deletion;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:4,58:62:99:4559,175,0:0.935:99 chr12 122079189 rs3741595 C T 2612.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.334;DP=230;Dels=0.00;FS=2.237;HRun=1;HaplotypeScore=14.6379;MQ=48.98;MQ0=1;MQRankSum=-0.288;QD=11.36;ReadPosRankSum=-1.161;SB=-1945.22;TI=NM_032790;GI=ORAI1;FC=Synonymous_I184I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:112,118:230:99:2642,0,2520:0.513:99 chr12 122079441 rs3825175 T C 3897.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.418;DP=314;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.6689;MQ=48.12;MQ0=0;MQRankSum=0.013;QD=12.41;ReadPosRankSum=-0.972;SB=-2787.20;TI=NM_032790;GI=ORAI1;FC=Synonymous_T268T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:138,175:314:99:3897,0,3112:0.559:99 chr12 122079682 rs35558190 A AT 5360.35 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.716;DP=362;FS=2.241;HRun=5;HaplotypeScore=368.3494;MQ=55.20;MQ0=0;MQRankSum=8.471;QD=14.81;ReadPosRankSum=1.214;SB=-2268.65;TI=NM_032790;GI=ORAI1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:183,176:362:99:5360,0,5502:0.490:99 chr12 122295335 rs1154510 T C 4356.86 PASS AC=2;AF=1.00;AN=2;DP=180;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4008;MQ=47.99;MQ0=0;QD=24.20;SB=-3293.93;TI=NM_002150,NM_001171993;GI=HPD,HPD;FC=Missense_T33A,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,180:180:99:4357,304,0:1.000:99 chr12 122296784 rs3741591 C T 491.00 LowDP AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=58.45;MQ0=0;QD=32.73;SB=-137.65;TI=NM_001171993;GI=HPD;FC=Silent GT:AD:DP:GQ:PL:VF:GQX 1/1:0,15:15:42.12:524,42,0:1.000:42 chr12 122307554 rs10840626 C G 14.92 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=7.46;SB=-37.80;TI=NM_001171993;GI=HPD;FC=Silent GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:3.01:45,3,0:1.000:3 chr12 122307580 rs10840627 A G 14.92 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=7.46;SB=-40.01;TI=NM_001171993;GI=HPD;FC=Silent GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:3.01:45,3,0:1.000:3 chr12 124209332 rs1139789 T C 16391.57 PASS AC=2;AF=1.00;AN=2;DP=619;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.9405;MQ=48.29;MQ0=0;QD=26.48;SB=-11273.34;TI=NM_012463;GI=ATP6V0A2;FC=Synonymous_N142N;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,618:619:99:16392,1165,0:1.000:99 chr12 124210782 rs1399961 T C 11597.39 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.032;DP=463;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=28.0902;MQ=51.16;MQ0=0;MQRankSum=0.760;QD=25.05;ReadPosRankSum=1.549;SB=-7927.50;TI=NM_012463;GI=ATP6V0A2;FC=Synonymous_S157S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,458:463:99:11597,777,0:0.996:99 chr12 124229429 rs7135542 T C 12924.57 PASS AC=2;AF=1.00;AN=2;DP=503;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=24.4214;MQ=50.47;MQ0=0;QD=25.69;SB=-8994.94;TI=NM_012463;GI=ATP6V0A2;FC=Unknown_505;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,502:503:99:12925,918,0:1.000:99 chr12 124243070 . CTT C 192.50 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.491;DP=179;FS=7.407;HRun=15;HaplotypeScore=781.3055;MQ=50.62;MQ0=0;MQRankSum=-0.403;QD=1.08;ReadPosRankSum=-0.379;SB=-123.67;TI=NM_012463;GI=ATP6V0A2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:119,13:179:99:230,0,3232:0.098:99 chr12 124243707 rs10744162 T C 8120.30 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.737;DP=311;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=20.0587;MQ=52.38;MQ0=0;MQRankSum=-0.068;QD=26.11;ReadPosRankSum=-2.328;SB=-5390.63;TI=NM_012463;GI=ATP6V0A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,306:311:99:8120,558,0:0.990:99 chr12 124244272 rs10846553 C G 5113.92 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.638;DP=185;Dels=0.00;FS=3.132;HRun=1;HaplotypeScore=16.8118;MQ=54.37;MQ0=0;MQRankSum=0.659;QD=27.64;ReadPosRankSum=-1.450;SB=-3413.87;TI=NM_012463;GI=ATP6V0A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,183:185:99:5114,342,0:0.995:99 chr12 124246004 rs2333834 G A 11781.76 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.717;DP=450;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=16.4579;MQ=50.21;MQ0=0;MQRankSum=-1.386;QD=26.18;ReadPosRankSum=-1.555;SB=-8208.64;TI=NM_012463;GI=ATP6V0A2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,449:450:99:11782,840,0:0.998:99 chr13 20761763 rs7988691 A G 5721.07 PASS AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5650;MQ=56.28;MQ0=0;QD=32.69;SB=-3071.24;TI=NM_004004;GI=GJB2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,175:175:99:5721,427,0:1.000:99 chr13 20761888 rs7623 C T 11330.46 PASS AC=2;AF=1.00;AN=2;DP=411;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=18.9692;MQ=50.61;MQ0=0;QD=27.57;SB=-6391.13;TI=NM_004004;GI=GJB2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,411:411:99:11330,819,0:1.000:99 chr13 20761973 rs9237 C A 7558.25 PASS AC=2;AF=1.00;AN=2;DP=262;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.3619;MQ=56.21;MQ0=0;QD=28.85;SB=-4881.03;TI=NM_004004;GI=GJB2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,262:262:99:7558,557,0:1.000:99 chr13 20762956 rs3751385 A G 1348.54 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.059;DP=128;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=14.8053;MQ=56.19;MQ0=0;MQRankSum=-0.572;QD=10.54;ReadPosRankSum=1.252;SB=-710.65;TI=NM_004004;GI=GJB2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:74,54:128:99:1379,0,1889:0.422:99 chr13 20763380 rs2274083 T C 1908.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.769;DP=175;Dels=0.00;FS=3.513;HRun=1;HaplotypeScore=13.7791;MQ=57.46;MQ0=0;MQRankSum=1.921;QD=10.90;ReadPosRankSum=0.652;SB=-1256.89;TI=NM_004004;GI=GJB2;FC=Missense_E114G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:90,85:175:99:1938,0,2193:0.486:99 chr13 20763642 rs2274084 C T 3818.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.374;DP=292;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=28.9832;MQ=51.07;MQ0=0;MQRankSum=0.043;QD=13.08;ReadPosRankSum=-1.350;SB=-2417.94;TI=NM_004004;GI=GJB2;FC=Missense_V27I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:124,166:292:99:3818,0,2688:0.572:99 chr13 23903791 rs4770433 A G 2862.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.015;DP=216;Dels=0.00;FS=3.153;HRun=1;HaplotypeScore=19.0667;MQ=53.53;MQ0=0;MQRankSum=2.385;QD=13.25;ReadPosRankSum=0.283;SB=-1469.49;TI=NM_014363;GI=SACS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:99,115:216:99:2892,0,2365:0.537:99 chr13 23905711 rs2737699 A G 2704.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.570;DP=199;Dels=0.00;FS=3.227;HRun=0;HaplotypeScore=6.3643;MQ=57.67;MQ0=0;MQRankSum=2.515;QD=13.59;ReadPosRankSum=1.107;SB=-1548.83;TI=NM_014363;GI=SACS;FC=Synonymous_L4102L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:101,98:199:99:2734,0,2526:0.492:99 chr13 23907677 rs2737701 C T 10053.99 PASS AC=2;AF=1.00;AN=2;DP=392;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.9155;MQ=48.23;MQ0=0;QD=25.65;SB=-7248.18;TI=NM_014363;GI=SACS;FC=Synonymous_Q3446Q;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,390:392:99:10054,710,0:1.000:99 chr13 23907909 rs17078605 A G 4323.77 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.534;DP=336;Dels=0.00;FS=0.865;HRun=2;HaplotypeScore=13.8558;MQ=50.46;MQ0=0;MQRankSum=0.179;QD=12.87;ReadPosRankSum=0.689;SB=-2125.41;TI=NM_014363;GI=SACS;FC=Missense_V3369A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:158,178:336:99:4324,0,3870:0.530:99 chr13 23908034 rs2737700 A G 2530.09 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.132;DP=236;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.8074;MQ=51.54;MQ0=0;MQRankSum=0.383;QD=10.72;ReadPosRankSum=1.344;SB=-1711.85;TI=NM_014363;GI=SACS;FC=Synonymous_A3327A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:122,114:236:99:2560,0,3042:0.483:99 chr13 23909162 rs9552929 A G 2664.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.725;DP=225;Dels=0.00;FS=0.490;HRun=0;HaplotypeScore=15.5944;MQ=56.93;MQ0=0;MQRankSum=2.512;QD=11.84;ReadPosRankSum=1.041;SB=-1555.15;TI=NM_014363;GI=SACS;FC=Synonymous_V2951V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:116,108:225:99:2694,0,2836:0.482:99 chr13 23911820 rs4143768 A G 5156.83 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.349;DP=367;Dels=0.00;FS=0.814;HRun=1;HaplotypeScore=27.2429;MQ=53.95;MQ0=0;MQRankSum=-0.372;QD=14.05;ReadPosRankSum=-1.570;SB=-3208.59;TI=NM_014363;GI=SACS;FC=Synonymous_I2065I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:150,216:367:99:5157,0,3575:0.590:99 chr13 23929842 rs41315020 T C 2613.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.104;DP=153;Dels=0.00;FS=5.033;HRun=1;HaplotypeScore=8.4642;MQ=56.47;MQ0=0;MQRankSum=0.410;QD=17.08;ReadPosRankSum=-1.467;SB=-1062.82;TI=NM_014363;GI=SACS;FC=Synonymous_A303A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:65,87:153:99:2644,0,1777:0.572:99 chr13 39262057 rs1868464 G A 1286.78 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.662;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56.69;MQ0=0;MQRankSum=0.813;QD=26.26;ReadPosRankSum=1.520;SB=-648.26;TI=NM_207361;GI=FREM2;FC=Synonymous_E192E;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,48:49:96.30:1320,96,0:0.980:96 chr13 39262435 rs9576597 C G 2625.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.852;DP=229;Dels=0.00;FS=1.034;HRun=0;HaplotypeScore=5.4638;MQ=48.08;MQ0=0;MQRankSum=-1.322;QD=11.46;ReadPosRankSum=-0.079;SB=-2040.89;TI=NM_207361;GI=FREM2;FC=Synonymous_P318P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:105,124:229:99:2655,0,2217:0.541:99 chr13 39263714 rs2496423 T C 2589.29 PASS AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=6.4291;MQ=54.93;MQ0=0;QD=30.46;SB=-1166.37;TI=NM_207361;GI=FREM2;FC=Missense_S745P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,85:85:99:2622,196,0:1.000:99 chr13 39264690 rs2496425 T C 1078.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.416;DP=92;Dels=0.00;FS=1.718;HRun=0;HaplotypeScore=8.9353;MQ=57.06;MQ0=0;MQRankSum=-0.524;QD=11.72;ReadPosRankSum=-0.665;SB=-661.48;TI=NM_207361;GI=FREM2;FC=Missense_F1070S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,43:92:99:1108,0,1223:0.467:99 chr13 39343822 rs9603422 C T 2655.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.111;DP=246;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=21.9355;MQ=47.68;MQ0=0;MQRankSum=-0.529;QD=10.79;ReadPosRankSum=-2.325;SB=-1808.38;TI=NM_207361;GI=FREM2;FC=Missense_R1840W;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:123,122:245:99:2685,0,2643:0.498:99 chr13 39430314 rs9548509 C T 10064.02 PASS AC=2;AF=1.00;AN=2;DP=394;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=18.5717;MQ=47.80;MQ0=0;QD=25.54;SB=-7213.62;TI=NM_207361;GI=FREM2;FC=Missense_T2326I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,394:394:99:10064,731,0:1.000:99 chr13 39433606 rs9532292 A G 3935.11 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.064;DP=428;Dels=0.00;FS=1.587;HRun=0;HaplotypeScore=18.7191;MQ=46.19;MQ0=0;MQRankSum=-4.179;QD=9.19;ReadPosRankSum=-0.268;SB=-2938.11;TI=NM_207361;GI=FREM2;FC=Synonymous_T2466T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:233,195:428:99:3935,0,5012:0.456:99 chr13 39455266 rs9603463 G A 1668.31 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.629;DP=152;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7829;MQ=52.71;MQ0=0;MQRankSum=-0.559;QD=10.98;ReadPosRankSum=0.618;SB=-832.73;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:80,72:152:99:1698,0,2049:0.474:99 chr13 39456352 rs9548522 A G 4032.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.721;DP=412;Dels=0.00;FS=1.608;HRun=0;HaplotypeScore=21.9888;MQ=54.79;MQ0=0;MQRankSum=1.094;QD=9.79;ReadPosRankSum=2.101;SB=-2883.58;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:229,183:412:99:4033,0,5396:0.444:99 chr13 39457064 rs7324632 C G 3637.29 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.051;DP=385;Dels=0.00;FS=1.218;HRun=2;HaplotypeScore=17.0961;MQ=48.01;MQ0=0;MQRankSum=1.612;QD=9.45;ReadPosRankSum=0.389;SB=-2551.92;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:218,167:385:99:3637,0,4589:0.434:99 chr13 39457850 rs1945508 G A 2267.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.985;DP=179;Dels=0.01;FS=4.406;HRun=0;HaplotypeScore=17.3743;MQ=55.99;MQ0=0;MQRankSum=1.545;QD=12.67;ReadPosRankSum=0.472;SB=-1433.13;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:83,94:178:99:2297,0,1940:0.531:99 chr13 39458116 rs7337135 T C 2159.33 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.974;DP=190;Dels=0.00;FS=3.300;HRun=0;HaplotypeScore=6.3579;MQ=53.29;MQ0=0;MQRankSum=0.518;QD=11.36;ReadPosRankSum=-2.072;SB=-1401.24;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:98,91:190:99:2189,0,2317:0.481:99 chr13 39458405 rs2184141 G A 3942.83 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.046;DP=358;Dels=0.00;FS=1.253;HRun=0;HaplotypeScore=18.8815;MQ=51.81;MQ0=0;MQRankSum=3.880;QD=11.01;ReadPosRankSum=2.901;SB=-2630.02;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:183,175:358:99:3943,0,4099:0.489:99 chr13 39459065 . T G 3340.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.229;DP=300;Dels=0.00;FS=3.151;HRun=0;HaplotypeScore=12.1515;MQ=50.61;MQ0=0;MQRankSum=-0.501;QD=11.13;ReadPosRankSum=-0.777;SB=-2291.83;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:149,151:300:99:3340,0,3359:0.503:99 chr13 39459389 rs2027770 C T 7956.99 PASS AC=2;AF=1.00;AN=2;DP=282;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2569;MQ=53.03;MQ0=0;QD=28.22;SB=-5217.12;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,280:282:99:7957,575,0:1.000:99 chr13 39459484 rs2225623 G A 3274.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.769;DP=237;Dels=0.00;FS=1.020;HRun=1;HaplotypeScore=18.3658;MQ=53.50;MQ0=0;MQRankSum=1.926;QD=13.81;ReadPosRankSum=2.878;SB=-1836.08;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:114,123:237:99:3274,0,2768:0.519:99 chr13 39459694 rs6563648 C T 2454.95 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.305;DP=196;Dels=0.00;FS=2.624;HRun=2;HaplotypeScore=19.3917;MQ=56.52;MQ0=0;MQRankSum=4.228;QD=12.53;ReadPosRankSum=2.033;SB=-1176.38;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:102,94:196:99:2485,0,2626:0.480:99 chr13 39460415 rs2226913 G A 10787.89 PASS AC=2;AF=1.00;AN=2;DP=390;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=22.9815;MQ=51.55;MQ0=0;QD=27.66;SB=-5488.41;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,390:390:99:10788,777,0:1.000:99 chr13 39460466 rs7327529 T A 4904.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.436;DP=387;Dels=0.00;FS=3.456;HRun=4;HaplotypeScore=17.6572;MQ=49.02;MQ0=0;MQRankSum=-2.418;QD=12.67;ReadPosRankSum=0.715;SB=-2523.06;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:179,208:387:99:4904,0,4320:0.537:99 chr13 39460486 rs1945507 C G 2727.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.432;DP=282;Dels=0.00;FS=0.971;HRun=0;HaplotypeScore=17.3037;MQ=49.11;MQ0=0;MQRankSum=1.863;QD=9.67;ReadPosRankSum=2.668;SB=-1244.93;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:160,119:282:99:2758,0,3954:0.427:99 chr13 39460522 rs1945506 T G 816.48 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.609;DP=60;Dels=0.00;FS=2.337;HRun=0;HaplotypeScore=12.7459;MQ=51.31;MQ0=0;MQRankSum=0.639;QD=13.61;ReadPosRankSum=-1.382;SB=-435.68;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,33:60:99:846,0,666:0.550:99 chr13 39460539 rs34843312 AT A 307.02 LowGQ;R8 AC=2;AF=1.00;AN=2;BaseQRankSum=0.510;DP=22;FS=0.000;HRun=12;HaplotypeScore=201.6154;MQ=53.35;MQ0=0;MQRankSum=1.531;QD=13.96;ReadPosRankSum=-1.327;SB=-153.27;TI=NM_207361;GI=FREM2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:7,12:22:22.96:349,23,0:0.632:22 chr13 39460657 rs1945505 C T 617.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.607;DP=39;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5747;MQ=47.52;MQ0=0;MQRankSum=0.671;QD=15.83;ReadPosRankSum=-0.733;SB=-443.62;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,28:39:99:648,0,263:0.718:99 chr13 39460823 rs1945504 C T 1257.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.588;DP=123;Dels=0.00;FS=5.118;HRun=0;HaplotypeScore=6.5560;MQ=53.16;MQ0=0;MQRankSum=1.347;QD=10.22;ReadPosRankSum=0.779;SB=-317.50;TI=NM_207361;GI=FREM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:75,47:123:99:1287,0,1764:0.385:99 chr13 41363595 rs7997189 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=37.00;MQ0=0;QD=7.46;SB=-35.26;TI=NM_014252;GI=SLC25A15;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:2:3.01:45,3,0:1.000:3 chr13 41363610 . G C 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=-77.81;TI=NM_014252;GI=SLC25A15;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,4:4:6.02:90,6,0:1.000:6 chr13 41382711 rs17849654 A T 6022.69 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.115;DP=577;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=27.6216;MQ=50.07;MQ0=10;MQRankSum=2.965;QD=10.44;ReadPosRankSum=3.247;SB=-4799.03;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Missense_I254L,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:286,291:577:99:6023,0,5962:0.504:99 chr13 41384156 rs9549293 A G 6216.06 PASS AC=2;AF=1.00;AN=2;DP=222;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6743;MQ=52.83;MQ0=0;QD=28.00;SB=-4052.70;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,222:222:99:6216,445,0:1.000:99 chr13 41384318 rs7322603 A G 4006.89 PASS AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4347;MQ=50.17;MQ0=0;QD=28.22;SB=-1929.05;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,141:142:99:4007,289,0:1.000:99 chr13 41384382 rs7321976 C T 1524.31 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.121;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6789;MQ=52.64;MQ0=0;MQRankSum=1.461;QD=29.89;ReadPosRankSum=1.597;SB=-660.22;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,50:51:86.95:1557,87,0:0.980:86 chr13 41384701 rs12585190 C T 3181.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.841;DP=360;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=19.2723;MQ=49.00;MQ0=4;MQRankSum=0.558;QD=8.84;ReadPosRankSum=0.190;SB=-2374.95;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:207,153:360:99:3211,0,4376:0.425:99 chr13 41385429 rs59670947 A G 493.98 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.990;DP=48;Dels=0.00;FS=1.095;HRun=1;HaplotypeScore=3.7396;MQ=47.75;MQ0=0;MQRankSum=-0.773;QD=10.29;ReadPosRankSum=0.670;SB=-334.61;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:24,24:48:99:524,0,550:0.500:99 chr13 41385631 . AAAAAG A 2112.99 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=6.313;DP=132;FS=0.703;HRun=0;HaplotypeScore=374.7884;MQ=47.44;MQ0=0;MQRankSum=0.366;QD=16.01;ReadPosRankSum=-2.956;SB=-1023.66;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:98,34:132:99:2152,0,5181:0.258:99 chr13 41385658 rs9566580;rs41515050 C A 1572.98 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.833;DP=191;Dels=0.00;FS=0.554;HRun=1;HaplotypeScore=8.9135;MQ=45.95;MQ0=0;MQRankSum=-1.697;QD=8.24;ReadPosRankSum=-1.290;SB=-1074.25;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:119,72:191:99:1603,0,2694:0.377:99 chr13 41385900 rs17592947 T A 3335.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.690;DP=338;Dels=0.00;FS=0.397;HRun=1;HaplotypeScore=8.1474;MQ=45.42;MQ0=0;MQRankSum=-1.997;QD=9.87;ReadPosRankSum=1.260;SB=-2329.32;TI=NM_014252,NR_003365;GI=SLC25A15,SUGT1P3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:182,156:338:99:3335,0,3996:0.462:99 chr13 48517289 rs4941618 A G 12172.02 PASS AC=2;AF=1.00;AN=2;DP=439;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.4004;MQ=51.72;MQ0=0;QD=27.73;SB=-7067.00;TI=NM_003850;GI=SUCLA2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,438:438:99:12172,864,0:1.000:99 chr13 48547467 rs7320366 A T 6216.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.528;DP=564;Dels=0.00;FS=5.106;HRun=0;HaplotypeScore=37.1936;MQ=51.74;MQ0=0;MQRankSum=3.583;QD=11.02;ReadPosRankSum=1.562;SB=-4553.73;TI=NM_003850;GI=SUCLA2;FC=Missense_S199T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:276,288:564:99:6217,0,6250:0.511:99 chr13 52548140 rs1801243 A C 2224.54 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.775;DP=213;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6806;MQ=48.60;MQ0=0;MQRankSum=-1.698;QD=10.44;ReadPosRankSum=-1.911;SB=-1689.78;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Missense_S406A,Missense_S406A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:108,105:213:99:2255,0,2193:0.493:99 chr13 52549134 . C G 24.85 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.026;DP=4;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5362;MQ=39.12;MQ0=0;MQRankSum=-1.026;QD=6.21;ReadPosRankSum=0.000;SB=-0.01;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Missense_K74N,Missense_K74N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,2:4:54.83:55,0,62:0.500:24 chr13 52549135 . T C 18.18 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=4;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4303;MQ=39.12;MQ0=0;MQRankSum=-1.026;QD=4.55;ReadPosRankSum=1.026;SB=-0.01;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Missense_K74R,Missense_K74R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,2:4:31.64:48,0,32:0.500:18 chr13 52549143 . T G 27.98 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8907;MQ=29.00;MQ0=0;QD=9.33;SB=-0.01;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Synonymous_S71S,Synonymous_S71S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,2:3:6.01:59,6,0:1.000:6 chr13 52549152 . A G 60.52 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8924;MQ=29.00;MQ0=0;QD=20.17;SB=-0.01;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Synonymous_T68T,Synonymous_T68T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,3:3:9.02:93,9,0:1.000:9 chr13 52585548 rs2277448 G T 5255.76 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.543;DP=459;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=22.7819;MQ=49.52;MQ0=0;MQRankSum=0.232;QD=11.45;ReadPosRankSum=-0.233;SB=-3325.84;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:234,224:459:99:5256,0,5334:0.489:99 chr13 52585591 . T TCGGCG 7574.32 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=8.805;DP=279;FS=5.796;HRun=0;HaplotypeScore=519.3713;MQ=52.32;MQ0=0;MQRankSum=0.496;QD=27.15;ReadPosRankSum=2.599;SB=-3305.91;TI=NM_001005918,NM_000053;GI=ATP7B,ATP7B;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:165,113:279:99:7574,0,10156:0.406:99 chr13 77574983 rs1800209 A G 2289.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.414;DP=189;Dels=0.00;FS=1.172;HRun=0;HaplotypeScore=12.6230;MQ=54.77;MQ0=0;MQRankSum=1.378;QD=12.11;ReadPosRankSum=-1.867;SB=-1123.12;TI=NM_006493;GI=CLN5;FC=Missense_K368R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:103,84:189:99:2319,0,2874:0.449:99 chr13 77575396 rs700363 G A 3925.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.093;DP=320;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=24.5703;MQ=52.57;MQ0=0;MQRankSum=3.615;QD=12.27;ReadPosRankSum=0.802;SB=-2095.25;TI=NM_006493;GI=CLN5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:152,167:320:99:3925,0,3672:0.524:99 chr13 78470350 rs4885491 A G 22121.92 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.055;DP=754;Dels=0.00;FS=3.232;HRun=2;HaplotypeScore=40.8738;MQ=54.49;MQ0=0;MQRankSum=1.732;QD=29.34;ReadPosRankSum=1.921;SB=-13499.91;TI=NM_003991,NM_001122659,NM_000115;GI=EDNRB,EDNRB,EDNRB;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,750:754:99:22122,1589,0:0.997:99 chr13 78475313 rs5351 T C 8775.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.098;DP=792;Dels=0.00;FS=1.763;HRun=0;HaplotypeScore=27.5232;MQ=53.30;MQ0=0;MQRankSum=1.094;QD=11.08;ReadPosRankSum=-0.267;SB=-5537.37;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 0/1:434,358:792:99:8775,0,11131:0.452:99 chr13 78477674 rs5348 A G 10862.70 PASS AC=2;AF=1.00;AN=2;DP=427;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=21.1132;MQ=50.37;MQ0=0;QD=25.44;SB=-7734.56;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 1/1:0,425:426:99:10863,768,0:1.000:99 chr13 103498198 rs751402 A G 7726.77 PASS AC=2;AF=1.00;AN=2;DP=308;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=18.9388;MQ=49.41;MQ0=0;QD=25.09;SB=-5895.78;TI=NM_000123;GI=ERCC5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,308:308:99:7727,542,0:1.000:99 chr13 103498375 rs2296147 T C 1379.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.885;DP=106;Dels=0.00;FS=1.567;HRun=2;HaplotypeScore=2.8765;MQ=54.22;MQ0=0;MQRankSum=1.182;QD=13.01;ReadPosRankSum=0.341;SB=-887.05;TI=NM_000123;GI=ERCC5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:51,55:106:99:1410,0,1361:0.519:99 chr13 103504517 rs1047768 T C 9823.61 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.644;DP=842;Dels=0.00;FS=3.532;HRun=0;HaplotypeScore=58.3354;MQ=51.57;MQ0=0;MQRankSum=3.300;QD=11.67;ReadPosRankSum=0.459;SB=-6583.47;TI=NM_000123;GI=ERCC5;FC=Synonymous_H46H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:419,420:841:99:9824,0,9758:0.501:99 chr13 103527849 rs9514066 G C 16315.76 PASS AC=2;AF=1.00;AN=2;DP=590;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=45.2285;MQ=52.48;MQ0=0;QD=27.65;SB=-11408.23;TI=NM_000123;GI=ERCC5;FC=Missense_G1053R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,589:590:99:16316,1183,0:1.000:99 chr13 103527930 rs9514067 G C 13026.93 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.683;DP=423;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=28.9199;MQ=55.31;MQ0=0;MQRankSum=0.460;QD=30.80;ReadPosRankSum=1.240;SB=-7671.42;TI=NM_000123;GI=ERCC5;FC=Missense_G1080R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,421:423:99:13027,966,0:0.998:99 chr13 103528002 rs17655 G C 7400.35 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.469;DP=637;Dels=0.00;FS=2.399;HRun=0;HaplotypeScore=27.9500;MQ=52.26;MQ0=0;MQRankSum=3.882;QD=11.62;ReadPosRankSum=-2.431;SB=-4910.04;TI=NM_000123;GI=ERCC5;FC=Missense_D1104H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:313,323:637:99:7400,0,7240:0.508:99 chr13 103528337 rs873601 G A 7119.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.884;DP=560;Dels=0.00;FS=0.317;HRun=0;HaplotypeScore=34.6770;MQ=52.47;MQ0=0;MQRankSum=2.184;QD=12.71;ReadPosRankSum=-1.624;SB=-3737.12;TI=NM_000123;GI=ERCC5;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:265,295:560:99:7120,0,6371:0.527:99 chr13 108863591 rs1805388 G A 3881.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.728;DP=311;Dels=0.00;FS=0.424;HRun=1;HaplotypeScore=26.3278;MQ=53.61;MQ0=0;MQRankSum=1.539;QD=12.48;ReadPosRankSum=3.543;SB=-2116.72;TI=NM_002312,NM_206937,NM_001098268;GI=LIG4,LIG4,LIG4;FC=Missense_T9I,Missense_T9I,Missense_T9I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:154,157:311:99:3882,0,3937:0.505:99 chr13 108863609 rs1805389 G A 4319.52 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.748;DP=327;Dels=0.00;FS=0.413;HRun=0;HaplotypeScore=16.1942;MQ=52.43;MQ0=0;MQRankSum=2.191;QD=13.21;ReadPosRankSum=0.751;SB=-2194.95;TI=NM_002312,NM_206937,NM_001098268;GI=LIG4,LIG4,LIG4;FC=Missense_A3V,Missense_A3V,Missense_A3V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:158,169:327:99:4320,0,3889:0.517:99 chr13 108870616 rs12868340 A C 6331.35 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.788;DP=601;Dels=0.00;FS=4.993;HRun=0;HaplotypeScore=44.9711;MQ=50.20;MQ0=0;MQRankSum=1.194;QD=10.53;ReadPosRankSum=1.706;SB=-4486.13;TI=NM_001098268;GI=LIG4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:311,284:601:99:6331,0,6876:0.477:99 chr14 24718379 rs41294726 TCTCCGGGAGCCCTGGACTCCCC T 3005.54 PASS AC=2;AF=1.00;AN=2;DP=60;FS=0.000;HRun=0;HaplotypeScore=62.5765;MQ=40.02;MQ0=0;QD=50.09;SB=-887.50;TI=NM_000359;GI=TGM1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:16,43:60:99:3048,129,0:0.729:99 chr14 24718515 rs2229463 G A 3826.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.402;DP=322;Dels=0.00;FS=4.314;HRun=0;HaplotypeScore=14.9057;MQ=48.01;MQ0=0;MQRankSum=0.315;QD=11.88;ReadPosRankSum=-2.852;SB=-2602.84;TI=NM_000359;GI=TGM1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:152,170:322:99:3827,0,3205:0.528:99 chr14 29236691 . C A 11.46 LowVariantFreq;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.556;DP=16;Dels=0.00;FS=3.010;HRun=0;HaplotypeScore=0.0000;MQ=45.09;MQ0=0;MQRankSum=-0.079;QD=0.72;ReadPosRankSum=-0.714;SB=-0.01;TI=NM_005249;GI=FOXG1;FC=Missense_P69Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,2:16:41.13:41,0,320:0.125:11 chr14 77741394 rs11547793 T C 7723.08 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.648;DP=290;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=32.8570;MQ=53.27;MQ0=0;MQRankSum=1.576;QD=26.63;ReadPosRankSum=1.061;SB=-5028.36;TI=NM_013382;GI=POMT2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,288:290:99:7723,563,0:0.997:99 chr14 77741977 rs12894594 C T 2469.12 PASS AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7541;MQ=56.41;MQ0=0;QD=25.72;SB=-1711.29;TI=NM_013382;GI=POMT2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,96:96:99:2502,178,0:1.000:99 chr14 77742218 rs4141640 C T 1907.85 PASS AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7855;MQ=56.68;MQ0=0;QD=28.91;SB=-945.09;TI=NM_013382;GI=POMT2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,66:66:99:1941,141,0:1.000:99 chr14 77743644 rs1055592 G A 2217.52 PASS AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=55.90;MQ0=0;QD=27.04;SB=-1526.08;TI=NM_013382;GI=POMT2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,82:82:99:2251,163,0:1.000:99 chr14 77745193 rs3209079 A C 10239.56 PASS AC=2;AF=1.00;AN=2;DP=392;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.2525;MQ=48.29;MQ0=0;QD=26.12;SB=-6877.24;TI=NM_013382;GI=POMT2;FC=Synonymous_L637L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,392:392:99:10240,728,0:1.000:99 chr14 77751925 rs2270419 C T 11755.52 PASS AC=2;AF=1.00;AN=2;DP=446;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=17.2110;MQ=53.22;MQ0=0;QD=26.36;SB=-8332.01;TI=NM_013382;GI=POMT2;FC=Synonymous_R461R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,445:446:99:11756,840,0:1.000:99 chr14 77786863 rs2270420 C A 6252.11 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.471;DP=252;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.6296;MQ=51.76;MQ0=0;MQRankSum=1.650;QD=24.81;ReadPosRankSum=-1.058;SB=-4526.66;TI=NM_013382;GI=POMT2;FC=Synonymous_A54A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,251:252:99:6252,410,0:0.996:99 chr14 77893276 rs4223 G A 7970.47 PASS AC=2;AF=1.00;AN=2;DP=287;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=18.4673;MQ=48.55;MQ0=0;QD=27.77;SB=-4602.24;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 1/1:0,287:287:99:7970,572,0:1.000:99 chr14 77893431 rs8009177 A G 2909.27 PASS AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=55.47;MQ0=0;QD=30.62;SB=-1770.38;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 1/1:0,95:95:99:2942,217,0:1.000:99 chr14 88399488 rs17198 A C 2161.80 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.964;DP=189;Dels=0.00;FS=1.800;HRun=1;HaplotypeScore=8.3433;MQ=49.30;MQ0=0;MQRankSum=-0.227;QD=11.44;ReadPosRankSum=-2.879;SB=-1336.30;TI=NM_000153;GI=GALC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,94:189:99:2192,0,2063:0.497:99 chr14 88399623 rs405567 T C 1911.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.530;DP=177;Dels=0.00;FS=2.623;HRun=0;HaplotypeScore=11.1517;MQ=52.47;MQ0=0;MQRankSum=2.343;QD=10.80;ReadPosRankSum=3.106;SB=-1346.24;TI=NM_000153;GI=GALC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:89,88:177:99:1942,0,1947:0.497:99 chr14 88399801 rs1042042 C T 4164.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.406;DP=260;Dels=0.00;FS=1.550;HRun=2;HaplotypeScore=6.4101;MQ=56.29;MQ0=0;MQRankSum=-1.207;QD=16.02;ReadPosRankSum=-1.715;SB=-2165.25;TI=NM_000153;GI=GALC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:102,158:260:99:4165,0,2416:0.608:99 chr14 88399887 . TATC T 11968.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=6.385;DP=393;FS=9.870;HRun=0;HaplotypeScore=586.7118;MQ=51.89;MQ0=0;MQRankSum=0.669;QD=30.45;ReadPosRankSum=1.781;SB=-4821.47;TI=NM_000153;GI=GALC;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:184,206:393:99:11968,0,10712:0.528:99 chr14 88400087 rs370559 C T 7671.64 PASS AC=2;AF=1.00;AN=2;DP=277;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.1598;MQ=49.71;MQ0=0;QD=27.70;SB=-5155.60;TI=NM_000153;GI=GALC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,276:277:99:7672,554,0:1.000:99 chr14 88400353 rs412915 C T 2301.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.109;DP=275;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2144;MQ=51.74;MQ0=0;MQRankSum=3.114;QD=8.37;ReadPosRankSum=1.570;SB=-1364.60;TI=NM_000153;GI=GALC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:167,108:275:99:2331,0,3998:0.393:99 chr14 88400449 rs413750 T C 8042.38 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.406;DP=286;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=30.0738;MQ=52.49;MQ0=0;MQRankSum=2.346;QD=28.12;ReadPosRankSum=-0.644;SB=-4920.23;TI=NM_000153;GI=GALC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,282:286:99:8042,584,0:0.993:99 chr14 88400450 rs432946 G A 2985.60 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.685;DP=284;Dels=0.00;FS=1.452;HRun=0;HaplotypeScore=30.9679;MQ=52.54;MQ0=0;MQRankSum=-0.374;QD=10.51;ReadPosRankSum=0.968;SB=-1743.73;TI=NM_000153;GI=GALC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:158,125:284:99:3016,0,3883:0.442:99 chr14 88400486 rs1042029 A G 3293.15 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.724;DP=248;Dels=0.00;FS=1.568;HRun=0;HaplotypeScore=16.4096;MQ=55.80;MQ0=0;MQRankSum=0.351;QD=13.28;ReadPosRankSum=0.783;SB=-1803.77;TI=NM_000153;GI=GALC;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:121,127:248:99:3293,0,3108:0.512:99 chr14 88401213 rs421262 T C 8888.55 PASS AC=2;AF=1.00;AN=2;DP=340;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=21.9942;MQ=53.63;MQ0=0;QD=26.14;SB=-5422.63;TI=NM_000153;GI=GALC;FC=Missense_T641A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,340:340:99:8889,635,0:1.000:99 chr14 88407875 rs421466 T A 7556.82 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.639;DP=288;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.9906;MQ=49.18;MQ0=0;MQRankSum=1.574;QD=26.24;ReadPosRankSum=1.566;SB=-3654.27;TI=NM_000153;GI=GALC;FC=Synonymous_V566V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,284:288:99:7557,518,0:0.993:99 chr14 88407888 rs398607 A G 2355.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.178;DP=190;Dels=0.00;FS=0.563;HRun=0;HaplotypeScore=4.4704;MQ=51.03;MQ0=0;MQRankSum=2.456;QD=12.40;ReadPosRankSum=0.225;SB=-1131.12;TI=NM_000153;GI=GALC;FC=Missense_I562T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:89,101:190:99:2385,0,2142:0.532:99 chr14 88411947 rs367327 T C 11215.35 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.682;DP=416;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=29.1658;MQ=49.26;MQ0=0;MQRankSum=0.054;QD=26.96;ReadPosRankSum=0.472;SB=-7047.56;TI=NM_000153;GI=GALC;FC=Synonymous_T540T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,414:416:99:11215,801,0:0.998:99 chr14 88414211 rs398076 G A 3097.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.291;DP=288;Dels=0.00;FS=3.194;HRun=0;HaplotypeScore=12.4898;MQ=44.02;MQ0=0;MQRankSum=-1.058;QD=10.76;ReadPosRankSum=0.305;SB=-2346.47;TI=NM_000153;GI=GALC;FC=Synonymous_S450S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:142,146:288:99:3127,0,3139:0.507:99 chr14 88431898 rs12888666 C T 2793.13 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.685;DP=294;Dels=0.00;FS=5.547;HRun=1;HaplotypeScore=11.8859;MQ=49.14;MQ0=0;MQRankSum=-0.917;QD=9.50;ReadPosRankSum=-1.108;SB=-1846.24;TI=NM_000153,NM_001037525;GI=GALC,GALC;FC=Synonymous_Q328Q,Synonymous_Q328Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:166,128:294:99:2823,0,4041:0.435:99 chr14 88431969 rs74887188 T C 4848.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.608;DP=502;Dels=0.00;FS=2.314;HRun=0;HaplotypeScore=16.2389;MQ=49.09;MQ0=0;MQRankSum=-2.019;QD=9.66;ReadPosRankSum=-1.024;SB=-3431.17;TI=NM_000153,NM_001037525;GI=GALC,GALC;FC=Missense_I305V,Missense_I305V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:274,227:502:99:4849,0,6065:0.453:99 chr14 92347680 rs2430347 A G 10418.77 PASS AC=2;AF=1.00;AN=2;DP=409;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=26.9248;MQ=50.28;MQ0=0;QD=25.47;SB=-7600.78;TI=NM_006329;GI=FBLN5;FC=Synonymous_I315I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,408:409:99:10419,740,0:1.000:99 chr15 34522679 rs4530104 C T 5020.28 PASS AC=2;AF=1.00;AN=2;DP=194;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3238;MQ=48.27;MQ0=0;QD=25.88;SB=-3307.70;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 1/1:0,193:194:99:5020,358,0:1.000:99 chr15 34522985 rs4238571 C G 4777.29 PASS AC=2;AF=1.00;AN=2;DP=170;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.0359;MQ=51.86;MQ0=0;QD=28.10;SB=-2737.31;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 1/1:0,170:170:99:4777,346,0:1.000:99 chr15 34523320 . A G 25.20 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.330;DP=40;Dels=0.00;FS=5.562;HRun=0;HaplotypeScore=2.9950;MQ=53.25;MQ0=0;MQRankSum=-0.789;QD=0.63;ReadPosRankSum=-1.195;SB=-0.01;TI=NM_005135,NM_133647,NM_001042497,NM_001042494,NM_001042496,NM_001042495;GI=SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:36,4:40:55.18:55,0,964:0.100:25 chr15 34523565 . GA G 27.64 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.656;DP=88;FS=4.557;HRun=14;HaplotypeScore=246.7726;MQ=49.24;MQ0=0;MQRankSum=0.335;QD=0.31;ReadPosRankSum=1.346;SB=-16.18;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 0/1:62,10:88:66.67:67,0,1200:0.139:27 chr15 34524590 rs6495640 A G 2030.44 PASS AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52.23;MQ0=0;QD=26.03;SB=-1320.35;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 1/1:0,78:78:99:2063,147,0:1.000:99 chr15 34524995 rs4779660 G T 8252.46 PASS AC=2;AF=1.00;AN=2;DP=321;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=17.6268;MQ=48.74;MQ0=0;QD=25.71;SB=-5751.44;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 1/1:0,321:321:99:8252,596,0:1.000:99 chr15 34525035 rs4780233 T C 9670.27 PASS AC=2;AF=1.00;AN=2;DP=376;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=16.7818;MQ=45.78;MQ0=0;QD=25.72;SB=-6607.97;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 1/1:0,375:376:99:9670,704,0:1.000:99 chr15 34525170 . T G 125.44 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-3.569;DP=103;Dels=0.00;FS=133.432;HRun=5;HaplotypeScore=55.8395;MQ=43.01;MQ0=0;MQRankSum=-2.456;QD=1.22;ReadPosRankSum=-4.473;SB=-0.01;TI=NM_005135,NM_133647,NM_001042497,NM_001042494,NM_001042496,NM_001042495;GI=SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6,SLC12A6;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:80,21:103:99:155,0,2331:0.208:99 chr15 34528948 rs4577050 G A 9850.78 PASS AC=2;AF=1.00;AN=2;DP=409;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=21.1969;MQ=47.42;MQ0=0;QD=24.09;SB=-7102.98;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 1/1:0,408:409:99:9851,689,0:1.000:99 chr15 40710723 rs2075624 G A 4546.38 PASS AC=2;AF=1.00;AN=2;DP=182;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=13.7548;MQ=49.48;MQ0=0;QD=24.98;SB=-3278.13;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,181:182:99:4546,319,0:1.000:99 chr15 40711270 rs2075625 C G 3910.60 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.082;DP=142;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=15.2382;MQ=55.53;MQ0=0;MQRankSum=0.355;QD=27.54;ReadPosRankSum=-0.511;SB=-2250.78;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,140:142:99:3911,251,0:0.986:99 chr15 40711696 . T C 56.14 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.893;DP=15;Dels=0.00;FS=9.859;HRun=0;HaplotypeScore=8.4359;MQ=42.28;MQ0=0;MQRankSum=-2.676;QD=3.74;ReadPosRankSum=-2.154;SB=-0.01;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,4:15:86.13:86,0,259:0.267:56 chr15 40711697 . G A 10.22 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-2.024;DP=15;Dels=0.00;FS=3.358;HRun=1;HaplotypeScore=8.4359;MQ=42.28;MQ0=0;MQRankSum=-2.938;QD=0.68;ReadPosRankSum=-1.893;SB=-0.01;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,4:15:39.78:40,0,267:0.267:10 chr15 40711699 . G A 35.48 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.775;DP=15;Dels=0.00;FS=7.160;HRun=1;HaplotypeScore=7.5418;MQ=42.28;MQ0=0;MQRankSum=-2.620;QD=2.37;ReadPosRankSum=-0.592;SB=-0.01;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,3:15:65.47:65,0,233:0.231:35 chr15 40711716 . G C 15.92 LowVariantFreq;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.296;DP=11;Dels=0.00;FS=3.522;HRun=0;HaplotypeScore=1.7882;MQ=45.13;MQ0=0;MQRankSum=-1.768;QD=1.45;ReadPosRankSum=-2.239;SB=-0.01;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,2:11:45.80:46,0,189:0.182:15 chr15 40711717 . G A 13.02 LowVariantFreq;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.118;DP=11;Dels=0.00;FS=3.424;HRun=3;HaplotypeScore=1.7882;MQ=45.13;MQ0=0;MQRankSum=-2.239;QD=1.18;ReadPosRankSum=-2.239;SB=-0.01;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,2:11:42.79:43,0,224:0.182:13 chr15 40711721 . G C 13.02 LowVariantFreq;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.061;DP=11;Dels=0.00;FS=3.424;HRun=0;HaplotypeScore=1.7882;MQ=45.13;MQ0=0;MQRankSum=-2.003;QD=1.18;ReadPosRankSum=-2.239;SB=-0.01;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:9,2:11:42.79:43,0,224:0.182:13 chr15 40711933 rs4923865 G A 82.69 LowGQ;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=50.46;MQ0=0;MQRankSum=1.380;QD=13.78;ReadPosRankSum=0.720;SB=-23.69;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,4:6:21.40:113,0,21:0.667:21 chr15 40711985 . A G 24.85 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=47.12;MQ0=0;MQRankSum=-1.026;QD=6.21;ReadPosRankSum=-1.026;SB=-0.01;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,2:4:54.83:55,0,69:0.500:24 chr15 40711994 . C 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=0.8941;MQ=49.96;MQ0=0;MQRankSum=-1.231;QD=4.37;ReadPosRankSum=-0.358;SB=-0.01;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,2:5:51.82:52,0,101:0.400:21 chr15 40712039 rs11630850 C G 86.41 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=60.00;MQ0=0;QD=28.80;SB=-0.01;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,3:3:9.03:118,9,0:1.000:9 chr15 40712065 . G T 15.92 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.762;DP=9;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=51.77;MQ0=0;MQRankSum=-1.666;QD=1.77;ReadPosRankSum=-1.179;SB=-0.01;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,2:9:45.80:46,0,179:0.222:15 chr15 40712072 rs11630878 C T 234.42 LowGQ;SB;LowDP AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=52.65;MQ0=0;QD=23.44;SB=-0.01;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,8:10:21.06:267,21,0:1.000:21 chr15 40712348 rs79545873 AG A 8234.56 PASS AC=2;AF=1.00;AN=2;DP=294;FS=0.000;HRun=7;HaplotypeScore=230.2035;MQ=45.89;MQ0=0;QD=28.01;SB=-3629.30;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:58,233:294:99:8235,704,0:0.801:99 chr15 40712737 rs11790 T C 6045.10 PASS AC=2;AF=1.00;AN=2;DP=211;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=11.7842;MQ=55.28;MQ0=0;QD=28.65;SB=-3892.80;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,210:211:99:6045,439,0:1.000:99 chr15 40713306 rs7207 T C 10557.69 PASS AC=2;AF=1.00;AN=2;DP=404;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.7126;MQ=46.50;MQ0=0;QD=26.13;SB=-7117.25;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,403:404:99:10558,746,0:1.000:99 chr15 40713490 rs35684830 CA C 14829.78 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.559;DP=448;FS=0.000;HRun=8;HaplotypeScore=314.4226;MQ=48.83;MQ0=0;MQRankSum=-0.387;QD=33.10;ReadPosRankSum=0.794;SB=-6829.50;TI=NM_001159508,NM_002225;GI=IVD,IVD;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:9,437:448:99:14830,1299,0:0.980:99 chr15 43236612 rs7178567 C T 7483.17 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.560;DP=282;Dels=0.00;FS=3.411;HRun=1;HaplotypeScore=21.4554;MQ=56.98;MQ0=0;MQRankSum=1.646;QD=26.54;ReadPosRankSum=-0.049;SB=-4756.98;TI=NM_174916;GI=UBR1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,281:282:99:7483,515,0:0.996:99 chr15 43237203 rs3803341 T C 9852.49 PASS AC=2;AF=1.00;AN=2;DP=353;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0435;MQ=51.94;MQ0=0;QD=27.91;SB=-6446.21;TI=NM_174916;GI=UBR1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,353:353:99:9852,707,0:1.000:99 chr15 45879522 rs2304898 C T 6424.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.645;DP=666;Dels=0.00;FS=2.794;HRun=0;HaplotypeScore=44.4721;MQ=50.47;MQ0=0;MQRankSum=-1.692;QD=9.65;ReadPosRankSum=0.763;SB=-4437.48;TI=NM_012388;GI=PLDN;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:355,310:666:99:6425,0,7419:0.466:99 chr15 45900418 rs7181436 G A 6449.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.967;DP=556;Dels=0.00;FS=0.637;HRun=4;HaplotypeScore=23.5522;MQ=50.78;MQ0=0;MQRankSum=1.497;QD=11.60;ReadPosRankSum=-0.714;SB=-4609.21;TI=NM_012388;GI=PLDN;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:272,283:556:99:6449,0,6222:0.510:99 chr15 48539587 rs6493311 T C 11395.21 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.953;DP=404;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=20.7841;MQ=51.94;MQ0=0;MQRankSum=2.052;QD=28.21;ReadPosRankSum=-0.067;SB=-7019.10;TI=NM_001184832,NM_000338;GI=SLC12A1,SLC12A1;FC=Synonymous_Y538Y,Synonymous_Y538Y;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,400:404:99:11395,828,0:0.993:99 chr15 48580713 rs1552311 T C 26157.21 PASS AC=2;AF=1.00;AN=2;DP=990;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=38.8609;MQ=52.75;MQ0=0;QD=26.42;SB=-16696.11;TI=NM_001184832,NM_000338;GI=SLC12A1,SLC12A1;FC=Unknown_958,Unknown_958;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,989:990:99:26157,1878,0:1.000:99 chr15 48595192 rs8025278 G T 3014.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.250;DP=232;Dels=0.00;FS=3.684;HRun=0;HaplotypeScore=13.0398;MQ=52.76;MQ0=0;MQRankSum=1.792;QD=12.99;ReadPosRankSum=0.201;SB=-1826.52;TI=NM_001184832,NM_000338;GI=SLC12A1,SLC12A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:110,122:232:99:3044,0,2863:0.526:99 chr15 48595382 rs78562329 T C 2041.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.242;DP=149;Dels=0.00;FS=2.194;HRun=0;HaplotypeScore=6.4568;MQ=58.14;MQ0=0;MQRankSum=1.952;QD=13.70;ReadPosRankSum=1.231;SB=-952.44;TI=NM_001184832,NM_000338;GI=SLC12A1,SLC12A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:73,75:149:99:2072,0,2030:0.507:99 chr15 48596166 rs12438818 A T 2699.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.864;DP=222;Dels=0.00;FS=0.500;HRun=4;HaplotypeScore=9.0202;MQ=53.10;MQ0=0;MQRankSum=0.781;QD=12.16;ReadPosRankSum=0.486;SB=-1659.10;TI=NM_001184832,NM_000338;GI=SLC12A1,SLC12A1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:110,112:222:99:2729,0,2569:0.505:99 chr15 52601033 rs36078972 T C 1964.77 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.141;DP=184;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=7.6158;MQ=50.54;MQ0=0;MQRankSum=1.144;QD=10.68;ReadPosRankSum=-0.778;SB=-1150.07;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,88:184:99:1995,0,2140:0.481:99 chr15 52601189 rs1045700 C T 1769.84 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.304;DP=210;Dels=0.00;FS=4.094;HRun=2;HaplotypeScore=6.3265;MQ=44.88;MQ0=0;MQRankSum=-2.389;QD=8.43;ReadPosRankSum=-0.989;SB=-1020.25;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:126,84:210:99:1800,0,2615:0.400:99 chr15 52601220 rs1045699 G A 3053.86 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.679;DP=329;Dels=0.00;FS=1.333;HRun=0;HaplotypeScore=11.9130;MQ=44.35;MQ0=0;MQRankSum=-1.400;QD=9.28;ReadPosRankSum=-1.287;SB=-2098.90;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:182,147:329:99:3084,0,3782:0.447:99 chr15 52601570 rs3751620 G T 2249.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.245;DP=215;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.6746;MQ=54.88;MQ0=0;MQRankSum=0.882;QD=10.46;ReadPosRankSum=0.906;SB=-1500.99;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:117,98:215:99:2280,0,2611:0.456:99 chr15 52601591 rs3751619 C A 2041.33 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.673;DP=194;Dels=0.00;FS=0.542;HRun=1;HaplotypeScore=19.6363;MQ=55.76;MQ0=0;MQRankSum=3.034;QD=10.52;ReadPosRankSum=0.514;SB=-1242.93;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:99,95:194:99:2071,0,2320:0.490:99 chr15 52601750 rs2414136 A G 4629.58 PASS AC=2;AF=1.00;AN=2;DP=183;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=16.5311;MQ=48.73;MQ0=0;QD=25.30;SB=-3324.39;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,182:183:99:4630,331,0:1.000:99 chr15 52602051 rs78174668 A G 22.88 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.148;DP=88;Dels=0.00;FS=6.214;HRun=0;HaplotypeScore=16.1120;MQ=52.45;MQ0=0;MQRankSum=0.819;QD=0.26;ReadPosRankSum=-2.052;SB=-0.01;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:80,7:88:52.85:53,0,2113:0.080:22 chr15 52602751 . GAAC G 2006.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.981;DP=104;FS=0.000;HRun=0;HaplotypeScore=77.2163;MQ=53.36;MQ0=0;MQRankSum=0.228;QD=19.30;ReadPosRankSum=1.339;SB=-868.35;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:63,39:104:99:2046,0,2261:0.382:99 chr15 52604136 rs11282676 A ATTTGTCATT 11127.88 PASS AC=2;AF=1.00;AN=2;DP=109;FS=0.000;HRun=0;HaplotypeScore=96.1869;MQ=28.60;MQ0=7;QD=102.09;SB=-3648.19;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:21,79:102:99:11128,286,0:0.790:99 chr15 52611451 rs2290332 A G 4615.23 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.647;DP=422;Dels=0.00;FS=2.056;HRun=0;HaplotypeScore=18.6421;MQ=46.94;MQ0=0;MQRankSum=-0.748;QD=10.94;ReadPosRankSum=0.279;SB=-3332.98;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Synonymous_D1628D,Synonymous_D1655D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:204,217:422:99:4615,0,4427:0.515:99 chr15 52643564 rs1058219 G A 4754.91 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.068;DP=444;Dels=0.00;FS=0.708;HRun=0;HaplotypeScore=8.3243;MQ=48.33;MQ0=0;MQRankSum=-1.647;QD=10.71;ReadPosRankSum=-0.454;SB=-3357.37;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Missense_R1246C,Missense_R1246C;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:234,210:444:99:4755,0,5189:0.473:99 chr15 52667552 rs2414145 G A 11461.67 PASS AC=2;AF=1.00;AN=2;DP=467;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.9001;MQ=49.26;MQ0=0;QD=24.54;SB=-8781.48;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Synonymous_I842I,Synonymous_I842I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,466:467:99:11462,807,0:1.000:99 chr15 52689526 rs2924130 T C 12140.15 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.690;DP=503;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=21.1395;MQ=48.55;MQ0=0;MQRankSum=0.423;QD=24.14;ReadPosRankSum=0.132;SB=-9284.84;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Synonymous_T397T,Synonymous_T397T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,499:503:99:12140,843,0:0.998:99 chr15 52689631 rs1724577 T G 7378.42 PASS AC=2;AF=1.00;AN=2;DP=280;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.5652;MQ=46.01;MQ0=0;QD=26.35;SB=-5016.80;TI=NM_001142495,NM_000259;GI=MYO5A,MYO5A;FC=Missense_E362D,Missense_E362D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,280:280:99:7378,524,0:1.000:99 chr15 68500317 . G GAC 2922.32 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-2.122;DP=182;FS=0.000;HRun=0;HaplotypeScore=176.5207;MQ=52.60;MQ0=0;MQRankSum=3.059;QD=16.06;ReadPosRankSum=0.795;SB=-1313.18;TI=NM_017882;GI=CLN6;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:101,72:182:99:2961,0,387:0.416:99 chr15 72635829 rs11629508 A C 8586.28 PASS AC=2;AF=1.00;AN=2;DP=348;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.1467;MQ=48.26;MQ0=0;QD=24.67;SB=-6330.48;TI=NM_000520;GI=HEXA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,348:348:99:8586,602,0:1.000:99 chr15 72635903 rs3087652 C T 6029.97 PASS AC=2;AF=1.00;AN=2;DP=229;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.4766;MQ=49.79;MQ0=0;QD=26.33;SB=-4281.80;TI=NM_000520;GI=HEXA;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,226:229:99:6030,430,0:1.000:99 chr15 72637795 rs4777502 T C 13212.82 PASS AC=2;AF=1.00;AN=2;DP=532;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.5841;MQ=49.60;MQ0=0;QD=24.84;SB=-9524.26;TI=NM_000520;GI=HEXA;FC=Synonymous_E506E;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,532:532:99:13213,921,0:1.000:99 chr15 72638892 rs1800431 T C 11026.18 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.693;DP=444;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=20.4444;MQ=47.35;MQ0=0;MQRankSum=1.630;QD=24.83;ReadPosRankSum=0.966;SB=-8496.76;TI=NM_000520;GI=HEXA;FC=Missense_I436V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,442:444:99:11026,771,0:0.998:99 chr15 72668305 rs1800428 G A 3354.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.701;DP=279;Dels=0.00;FS=4.105;HRun=1;HaplotypeScore=20.2719;MQ=53.84;MQ0=0;MQRankSum=2.638;QD=12.02;ReadPosRankSum=-0.081;SB=-2015.33;TI=NM_000520;GI=HEXA;FC=Synonymous_S3S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:131,147:279:99:3355,0,2820:0.529:99 chr15 74472199 rs10910 C T 1197.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.149;DP=103;Dels=0.00;FS=0.738;HRun=3;HaplotypeScore=8.3571;MQ=55.65;MQ0=0;MQRankSum=1.405;QD=11.63;ReadPosRankSum=1.359;SB=-819.50;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 0/1:48,55:103:99:1228,0,1254:0.534:99 chr15 74487036 rs351224 T A 12047.13 PASS AC=2;AF=1.00;AN=2;DP=486;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=30.5854;MQ=46.65;MQ0=0;QD=24.79;SB=-9410.97;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 1/1:0,483:486:99:12047,837,0:1.000:99 chr15 74658315 rs79534403 G GA 19403.82 PASS AC=2;AF=1.00;AN=2;DP=487;FS=0.000;HRun=1;HaplotypeScore=429.3410;MQ=57.33;MQ0=0;QD=39.84;SB=-9079.60;TI=NM_001099773,NM_000781;GI=CYP11A1,CYP11A1;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:16,464:487:99:19404,1405,0:0.967:99 chr15 75183789 . A C 5209.36 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.074;DP=522;Dels=0.00;FS=1.415;HRun=0;HaplotypeScore=29.4752;MQ=50.12;MQ0=0;MQRankSum=0.547;QD=9.98;ReadPosRankSum=-1.963;SB=-3892.98;TI=NM_002435;GI=MPI;FC=Missense_S72R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:279,243:522:99:5209,0,6021:0.466:99 chr15 75188584 rs12440159 C T 5828.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.823;DP=530;Dels=0.00;FS=0.315;HRun=1;HaplotypeScore=22.5168;MQ=50.68;MQ0=0;MQRankSum=2.400;QD=11.00;ReadPosRankSum=1.073;SB=-4423.77;TI=NM_002435;GI=MPI;FC=Synonymous_I254I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:254,276:530:99:5829,0,5377:0.521:99 chr15 75189930 rs1130741 A G 2527.33 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.997;DP=262;Dels=0.00;FS=1.495;HRun=0;HaplotypeScore=14.8167;MQ=47.50;MQ0=0;MQRankSum=-1.703;QD=9.65;ReadPosRankSum=0.973;SB=-1906.69;TI=NM_002435;GI=MPI;FC=Synonymous_V377V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:142,120:262:99:2557,0,3050:0.458:99 chr15 76508684 rs1803550 T A 20835.63 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.889;DP=729;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=34.0744;MQ=54.78;MQ0=0;MQRankSum=1.326;QD=28.58;ReadPosRankSum=0.988;SB=-14325.65;TI=NM_001127716,NM_000126;GI=ETFA,ETFA;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,725:729:99:20836,1461,0:0.996:99 chr15 89859932 rs3087377 A AC 4154.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.129;DP=264;FS=1.640;HRun=2;HaplotypeScore=308.9022;MQ=54.65;MQ0=0;MQRankSum=1.485;QD=15.74;ReadPosRankSum=-1.297;SB=-1741.75;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 0/1:146,118:264:99:4155,0,3446:0.447:99 chr15 91337479 rs2227933 G A 7678.11 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=5.464;DP=635;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=22.2368;MQ=53.60;MQ0=0;MQRankSum=4.819;QD=12.09;ReadPosRankSum=0.015;SB=-2908.71;TI=NM_000057;GI=BLM;FC=Synonymous_T1034T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:346,288:635:99:7678,0,9021:0.454:99 chr15 91346923 rs2227934 C A 5423.13 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.787;DP=509;Dels=0.00;FS=6.276;HRun=0;HaplotypeScore=45.1471;MQ=50.65;MQ0=0;MQRankSum=3.892;QD=10.65;ReadPosRankSum=0.688;SB=-3026.75;TI=NM_000057;GI=BLM;FC=Synonymous_A1177A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:268,241:509:99:5423,0,5860:0.473:99 chr15 91354505 rs1063147 C T 6036.71 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.048;DP=537;Dels=0.00;FS=0.660;HRun=1;HaplotypeScore=27.1459;MQ=51.05;MQ0=0;MQRankSum=0.761;QD=11.24;ReadPosRankSum=0.137;SB=-3614.13;TI=NM_000057;GI=BLM;FC=Synonymous_L1315L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:266,270:537:99:6037,0,6060:0.504:99 chr15 91543761 rs11073964 C T 8026.01 PASS AC=2;AF=1.00;AN=2;DP=323;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.7934;MQ=49.54;MQ0=0;QD=24.85;SB=-5962.24;TI=NM_018668;GI=VPS33B;FC=Missense_G514S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,320:323:99:8026,572,0:1.000:99 chr15 91565804 rs11073967 A G 989.01 PASS AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.8820;MQ=50.57;MQ0=0;QD=29.97;SB=-337.75;TI=NM_018668;GI=VPS33B;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,32:33:78.25:1022,78,0:1.000:78 chr16 1495006 rs8767 C G 7405.84 PASS AC=2;AF=1.00;AN=2;DP=285;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.0893;MQ=50.09;MQ0=0;QD=25.99;SB=-5164.03;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,284:285:99:7406,527,0:1.000:99 chr16 1495243 rs710900 T G 6298.73 PASS AC=2;AF=1.00;AN=2;DP=247;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.4137;MQ=47.60;MQ0=0;QD=25.50;SB=-4523.51;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,247:247:99:6299,445,0:1.000:99 chr16 1495300 rs941439 G A 1002.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.115;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4164;MQ=51.39;MQ0=0;MQRankSum=-0.639;QD=10.90;ReadPosRankSum=1.147;SB=-582.35;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,45:92:99:1033,0,1001:0.495:99 chr16 1495745 rs55801438 G A 1397.39 PASS AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=50.36;MQ0=0;QD=25.41;SB=-868.10;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,54:55:99:1430,102,0:1.000:99 chr16 1495746 rs1050834 G A 1491.01 PASS AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=50.73;MQ0=0;QD=26.16;SB=-900.70;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,57:57:99:1524,108,0:1.000:99 chr16 1495897 rs2294542 G A 3541.21 PASS AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6543;MQ=50.57;MQ0=0;QD=25.29;SB=-2491.78;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,140:140:99:3541,256,0:1.000:99 chr16 1503879 rs2235579 T A 11288.63 PASS AC=2;AF=1.00;AN=2;DP=445;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=32.1638;MQ=49.23;MQ0=0;QD=25.37;SB=-7978.43;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Synonymous_A390A,Synonymous_A366A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,444:445:99:11289,804,0:1.000:99 chr16 1524850 rs3751884 A G 186.32 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=35.98;MQ0=0;QD=18.63;SB=-157.91;TI=NM_001287,NM_001114331;GI=CLCN7,CLCN7;FC=Synonymous_P42P,Synonymous_P42P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,10:10:15.05:219,15,0:1.000:15 chr16 2331430 rs149532 A G 8508.67 PASS AC=2;AF=1.00;AN=2;DP=346;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=14.3891;MQ=47.34;MQ0=0;QD=24.59;SB=-6349.59;TI=NM_001089;GI=ABCA3;FC=Synonymous_S1372S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,346:346:99:8509,608,0:1.000:99 chr16 2367336 rs13332514 G A 2859.01 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.044;DP=273;Dels=0.00;FS=1.458;HRun=2;HaplotypeScore=17.2379;MQ=48.02;MQ0=0;MQRankSum=-0.797;QD=10.47;ReadPosRankSum=-1.130;SB=-2087.02;TI=NM_001089;GI=ABCA3;FC=Synonymous_F353F;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:133,140:273:99:2889,0,2645:0.513:99 chr16 3292085 rs450021 C A 3302.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.493;DP=319;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=25.0181;MQ=48.47;MQ0=0;MQRankSum=1.045;QD=10.35;ReadPosRankSum=0.089;SB=-2141.81;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:164,155:319:99:3302,0,3545:0.486:99 chr16 3292295 . C T 13.02 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=8;Dels=0.00;FS=14.472;HRun=0;HaplotypeScore=2.9976;MQ=50.65;MQ0=0;MQRankSum=-1.589;QD=1.63;ReadPosRankSum=-0.572;SB=-1.25;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,2:8:42.79:43,0,211:0.250:13 chr16 3292309 . C T 49.25 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.550;DP=7;Dels=0.00;FS=8.451;HRun=0;HaplotypeScore=4.9931;MQ=40.36;MQ0=0;MQRankSum=-1.754;QD=7.04;ReadPosRankSum=0.550;SB=0.01;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,3:7:79.24:79,0,127:0.429:49 chr16 3292310 . A G 79.68 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.421;DP=8;Dels=0.00;FS=15.441;HRun=0;HaplotypeScore=6.7813;MQ=39.12;MQ0=0;MQRankSum=-0.922;QD=9.96;ReadPosRankSum=0.421;SB=-2.50;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,4:8:99:110,0,117:0.500:79 chr16 3292315 . T C 79.67 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=9;Dels=0.00;FS=8.451;HRun=0;HaplotypeScore=6.6639;MQ=38.13;MQ0=0;MQRankSum=-1.368;QD=8.85;ReadPosRankSum=0.922;SB=0.02;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,4:9:99:110,0,121:0.500:79 chr16 3292317 . C T 46.24 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.322;DP=9;Dels=0.00;FS=7.068;HRun=0;HaplotypeScore=6.6639;MQ=38.13;MQ0=0;MQRankSum=-0.322;QD=5.14;ReadPosRankSum=1.221;SB=-0.01;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,3:9:76.23:76,0,155:0.375:46 chr16 3292318 . A G 76.66 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.729;DP=9;Dels=0.00;FS=13.222;HRun=0;HaplotypeScore=6.6639;MQ=38.13;MQ0=0;MQRankSum=-0.876;QD=8.52;ReadPosRankSum=1.881;SB=0.02;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,4:9:99:107,0,152:0.444:76 chr16 3292339 . T C 323.00 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;BaseQRankSum=-0.935;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6274;MQ=28.31;MQ0=0;MQRankSum=0.401;QD=23.07;ReadPosRankSum=-0.668;SB=-0.01;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,12:14:5.65:354,6,0:0.923:5 chr16 3292340 . G C 290.88 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;BaseQRankSum=0.274;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6274;MQ=28.31;MQ0=0;MQRankSum=-0.091;QD=20.78;ReadPosRankSum=-0.822;SB=-0.01;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,12:14:2.64:321,3,0:0.857:2 chr16 3292342 . CA C 427.12 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.369;DP=14;FS=8.129;HRun=2;HaplotypeScore=356.7458;MQ=28.31;MQ0=0;MQRankSum=1.187;QD=30.51;ReadPosRankSum=-0.456;SB=0.91;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,12:14:42.36:466,0,42:0.857:42 chr16 3292351 . A G 560.41 LowGQ;LowGQX;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.428;DP=22;Dels=0.00;FS=10.212;HRun=0;HaplotypeScore=12.2354;MQ=28.56;MQ0=0;MQRankSum=0.628;QD=25.47;ReadPosRankSum=-2.341;SB=-4.54;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,20:22:0.71:589,0,1:0.909:0 chr16 3292353 . C T 553.29 LowGQ;SB AC=2;AF=1.00;AN=2;BaseQRankSum=0.659;DP=22;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=13.1295;MQ=28.56;MQ0=0;MQRankSum=1.977;QD=25.15;ReadPosRankSum=-0.180;SB=-0.01;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,19:22:26.70:586,27,0:0.905:26 chr16 3292355 . T C 277.64 SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.484;DP=22;Dels=0.00;FS=3.757;HRun=0;HaplotypeScore=13.1295;MQ=28.56;MQ0=0;MQRankSum=1.352;QD=12.62;ReadPosRankSum=-1.550;SB=-0.01;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:10,12:22:99:308,0,226:0.545:99 chr16 3292356 . T C,G 374.97 SB AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-1.239;DP=22;Dels=0.00;FS=0.000;HaplotypeScore=11.3413;MQ=28.56;MQ0=0;MQRankSum=-0.248;QD=17.04;ReadPosRankSum=-1.569;SB=-0.01;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:1,12,8:22:99:435,139,139,269,0,281:0.952:99 chr16 3292392 . G C 24.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=6;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.7865;MQ=29.00;MQ0=0;MQRankSum=-1.026;QD=4.14;ReadPosRankSum=0.000;SB=-0.01;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,2:6:49.07:55,0,49:0.500:24 chr16 3292397 . C T 81.08 LowGQ;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9933;MQ=29.00;MQ0=0;MQRankSum=0.720;QD=13.51;ReadPosRankSum=1.380;SB=-0.01;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:2,4:6:18.40:111,0,18:0.667:18 chr16 3292398 rs80355217 A G 134.43 LowGQ;SB;LowDP AC=2;AF=1.00;AN=2;DP=6;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8907;MQ=29.00;MQ0=0;QD=22.40;SB=-0.01;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,6:6:15.04:167,15,0:1.000:15 chr16 3292666 rs11466052;rs67530870 T C 1958.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.328;DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=318.5583;MQ=45.07;MQ0=0;MQRankSum=-2.418;QD=12.80;ReadPosRankSum=0.469;SB=-1159.76;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,84:153:99:1989,0,1483:0.553:99 chr16 3292667 rs11466051 G C 1951.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.011;DP=154;Dels=0.00;FS=0.633;HRun=0;HaplotypeScore=321.5302;MQ=45.03;MQ0=0;MQRankSum=-2.677;QD=12.67;ReadPosRankSum=0.553;SB=-1187.51;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:66,85:154:99:1981,0,1352:0.563:99 chr16 3292672 . CAAA C 2418.89 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=3.653;DP=157;FS=0.000;HRun=18;HaplotypeScore=939.0303;MQ=44.75;MQ0=0;MQRankSum=0.120;QD=15.41;ReadPosRankSum=0.259;SB=-1221.64;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,47:157:99:2458,0,1054:0.534:99 chr16 3292874 rs2741918 C T 1585.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.291;DP=134;Dels=0.00;FS=8.072;HRun=0;HaplotypeScore=8.5708;MQ=51.63;MQ0=0;MQRankSum=-0.575;QD=11.84;ReadPosRankSum=-0.201;SB=-598.07;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:70,63:134:99:1616,0,1620:0.474:99 chr16 3292896 rs2741919 C T 1795.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.381;DP=169;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=48.66;MQ0=0;MQRankSum=-1.762;QD=10.63;ReadPosRankSum=0.453;SB=-1110.76;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:93,76:169:99:1826,0,2143:0.450:99 chr16 3293008 rs2075849 C T 3454.52 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.900;DP=286;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.8683;MQ=49.32;MQ0=0;MQRankSum=-1.668;QD=12.08;ReadPosRankSum=-1.924;SB=-2578.92;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:127,159:286:99:3455,0,2705:0.556:99 chr16 3293888 rs1231122 C T 4833.77 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.684;DP=500;Dels=0.00;FS=1.049;HRun=0;HaplotypeScore=27.1785;MQ=49.52;MQ0=0;MQRankSum=-2.279;QD=9.67;ReadPosRankSum=0.431;SB=-3711.51;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_P588P,Missense_G436R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:269,231:500:99:4834,0,5592:0.462:99 chr16 3297073 rs224206 A G 4603.99 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.108;DP=428;Dels=0.00;FS=0.730;HRun=0;HaplotypeScore=14.2955;MQ=48.09;MQ0=0;MQRankSum=-2.467;QD=10.76;ReadPosRankSum=1.716;SB=-3612.42;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_D510D,Synonymous_D299D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:205,222:428:99:4604,0,4524:0.520:99 chr16 3297175 rs224207 T C 2998.00 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.459;DP=365;Dels=0.00;FS=2.297;HRun=1;HaplotypeScore=16.0662;MQ=48.23;MQ0=0;MQRankSum=-0.095;QD=8.21;ReadPosRankSum=0.330;SB=-2054.62;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_Q476Q,Synonymous_Q265Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:218,146:365:99:3028,0,4662:0.401:99 chr16 3297181 rs224208 C T 3174.66 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.618;DP=377;Dels=0.00;FS=1.715;HRun=1;HaplotypeScore=14.3562;MQ=47.79;MQ0=0;MQRankSum=-1.737;QD=8.42;ReadPosRankSum=-0.236;SB=-2183.35;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_E474E,Synonymous_E263E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:224,153:377:99:3205,0,4793:0.406:99 chr16 3299749 rs224213 G A 1635.65 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.445;DP=228;Dels=0.00;FS=3.098;HRun=1;HaplotypeScore=9.8649;MQ=47.15;MQ0=0;MQRankSum=-0.633;QD=7.17;ReadPosRankSum=0.565;SB=-1236.05;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_R314R,Synonymous_R103R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:143,85:228:99:1666,0,3113:0.373:99 chr16 3304463 rs224222 C T 2002.32 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.588;DP=140;Dels=0.00;FS=0.653;HRun=0;HaplotypeScore=12.7546;MQ=50.69;MQ0=0;MQRankSum=2.849;QD=14.30;ReadPosRankSum=-0.374;SB=-1003.43;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Missense_R202Q,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:61,79:140:99:2032,0,1345:0.564:99 chr16 3304573 rs224223 G T 3457.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.070;DP=292;Dels=0.00;FS=6.533;HRun=0;HaplotypeScore=22.9768;MQ=51.14;MQ0=0;MQRankSum=-0.763;QD=11.84;ReadPosRankSum=-0.282;SB=-2163.87;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_A165A,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:139,153:292:99:3458,0,3210:0.524:99 chr16 3304654 rs224224 T C 3477.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=5.288;DP=361;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=30.3245;MQ=51.70;MQ0=1;MQRankSum=-2.159;QD=9.63;ReadPosRankSum=0.797;SB=-2447.61;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_G138G,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:195,162:360:99:3477,0,4340:0.454:99 chr16 3304762 rs224225 A G 4285.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.405;DP=445;Dels=0.00;FS=0.347;HRun=0;HaplotypeScore=11.5654;MQ=48.13;MQ0=1;MQRankSum=-3.320;QD=9.63;ReadPosRankSum=-1.019;SB=-3025.71;TI=NM_000243,NM_001198536;GI=MEFV,MEFV;FC=Synonymous_D102D,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:251,193:445:99:4285,0,5832:0.435:99 chr16 5128809 . T C 2130.41 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.509;DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=19.0301;MQ=50.77;MQ0=0;MQRankSum=1.578;QD=10.81;ReadPosRankSum=-0.453;SB=-1579.99;TI=NM_019109;GI=ALG1;FC=Synonymous_D264D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:94,101:197:99:2160,0,2045:0.518:99 chr16 5132636 rs1047732 C T 8934.41 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.675;DP=377;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=14.6286;MQ=45.54;MQ0=10;MQRankSum=-1.279;QD=23.70;ReadPosRankSum=0.967;SB=-6809.99;TI=NM_019109;GI=ALG1;FC=Synonymous_F383F;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:5,372:377:99:8934,603,0:0.987:99 chr16 5135380 rs6775;rs11554416 A G 3162.46 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.402;DP=139;Dels=0.00;FS=4.373;HRun=0;HaplotypeScore=7.2533;MQ=54.14;MQ0=1;MQRankSum=5.431;QD=22.75;ReadPosRankSum=0.792;SB=-1525.02;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,112:139:99:3192,0,388:0.806:99 chr16 5135947 rs4483845 C G 6865.06 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.062;DP=278;Dels=0.00;FS=6.043;HRun=2;HaplotypeScore=17.1150;MQ=46.20;MQ0=0;MQRankSum=2.359;QD=24.69;ReadPosRankSum=0.569;SB=-4819.18;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,274:278:99:6865,408,0:0.989:99 chr16 5135979 rs4238853 T C 4327.10 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.426;DP=170;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.5915;MQ=48.09;MQ0=0;MQRankSum=1.691;QD=25.45;ReadPosRankSum=0.978;SB=-3080.65;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,169:170:99:4327,285,0:0.994:99 chr16 5136266 . G C 43.56 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.604;DP=29;Dels=0.00;FS=14.800;HRun=0;HaplotypeScore=11.6847;MQ=46.13;MQ0=0;MQRankSum=-3.163;QD=1.50;ReadPosRankSum=-2.380;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 0/1:22,6:29:73.55:74,0,585:0.214:43 chr16 5136320 rs12922304 G A 346.23 LowDP AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=40.23;MQ0=0;QD=28.85;SB=-186.16;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,12:12:33.09:379,33,0:1.000:33 chr16 5136900 rs4786595 C A 1221.88 PASS AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=53.71;MQ0=0;QD=29.09;SB=-623.07;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,42:42:93.30:1255,93,0:1.000:93 chr16 5136901 rs4786596 C G 1226.49 PASS AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=53.71;MQ0=0;QD=29.20;SB=-655.45;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,42:42:93.29:1259,93,0:1.000:93 chr16 5137069 rs12928220 C G 2917.86 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.110;DP=303;Dels=0.00;FS=0.877;HRun=0;HaplotypeScore=9.9133;MQ=47.76;MQ0=0;MQRankSum=-0.075;QD=9.63;ReadPosRankSum=0.148;SB=-2328.16;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:158,144:303:99:2948,0,3324:0.477:99 chr16 5137285 rs4786597 A G 6346.18 PASS AC=2;AF=1.00;AN=2;DP=250;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.0765;MQ=49.01;MQ0=0;QD=25.38;SB=-4694.33;TI=NM_019109,NM_201598,NM_201400;GI=ALG1,FAM86A,FAM86A;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,248:250:99:6346,445,0:1.000:99 chr16 8941778 rs11554040 G C 1386.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.448;DP=121;Dels=0.00;FS=3.337;HRun=3;HaplotypeScore=11.9654;MQ=50.00;MQ0=0;MQRankSum=-0.687;QD=11.46;ReadPosRankSum=-0.526;SB=-779.51;TI=NM_000303;GI=PMM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,61:121:99:1417,0,1458:0.504:99 chr16 8941818 rs2075827 A C 3220.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.967;DP=304;Dels=0.00;FS=5.248;HRun=1;HaplotypeScore=25.1734;MQ=46.60;MQ0=0;MQRankSum=0.395;QD=10.59;ReadPosRankSum=-0.005;SB=-2262.24;TI=NM_000303;GI=PMM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:151,152:304:99:3251,0,3247:0.502:99 chr16 8941857 rs2072688 G A 3995.98 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.302;DP=366;Dels=0.00;FS=5.328;HRun=2;HaplotypeScore=18.2521;MQ=45.09;MQ0=0;MQRankSum=-2.157;QD=10.92;ReadPosRankSum=1.944;SB=-2416.92;TI=NM_000303;GI=PMM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:188,178:366:99:3996,0,4085:0.486:99 chr16 8942473 rs2437722 G C 5100.64 PASS AC=2;AF=1.00;AN=2;DP=189;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=7.0430;MQ=54.06;MQ0=0;QD=26.99;SB=-3571.70;TI=NM_000303;GI=PMM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,189:189:99:5101,367,0:1.000:99 chr16 8942679 rs1056898 A G 1703.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.200;DP=137;Dels=0.00;FS=3.118;HRun=0;HaplotypeScore=4.6493;MQ=54.34;MQ0=0;MQRankSum=1.459;QD=12.44;ReadPosRankSum=-1.489;SB=-851.19;TI=NM_000303;GI=PMM2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:72,65:137:99:1734,0,1945:0.474:99 chr16 14041958 rs1799801 T C 4325.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.242;DP=423;Dels=0.00;FS=4.873;HRun=1;HaplotypeScore=13.5431;MQ=49.14;MQ0=0;MQRankSum=-1.269;QD=10.23;ReadPosRankSum=0.929;SB=-3149.00;TI=NM_005236;GI=ERCC4;FC=Synonymous_S835S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:227,196:423:99:4325,0,5077:0.463:99 chr16 14042688 rs3743538 G T 4249.97 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.955;DP=401;Dels=0.00;FS=2.119;HRun=1;HaplotypeScore=14.7122;MQ=46.57;MQ0=0;MQRankSum=-1.676;QD=10.60;ReadPosRankSum=-0.465;SB=-3044.77;TI=NM_005236;GI=ERCC4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:202,199:401:99:4250,0,4292:0.496:99 chr16 14042930 rs2276464 G C 5023.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.273;DP=458;Dels=0.00;FS=1.508;HRun=0;HaplotypeScore=24.0044;MQ=47.68;MQ0=0;MQRankSum=-2.702;QD=10.97;ReadPosRankSum=-0.412;SB=-3690.40;TI=NM_005236;GI=ERCC4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:226,231:458:99:5024,0,5298:0.505:99 chr16 14043014 rs2276465 G A 2277.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.239;DP=198;Dels=0.00;FS=1.764;HRun=0;HaplotypeScore=6.4698;MQ=57.81;MQ0=0;MQRankSum=1.349;QD=11.50;ReadPosRankSum=0.204;SB=-1403.80;TI=NM_005236;GI=ERCC4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:107,91:198:99:2307,0,2662:0.460:99 chr16 14043175 rs2276466 C G 3233.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.901;DP=287;Dels=0.00;FS=0.913;HRun=0;HaplotypeScore=12.5390;MQ=47.82;MQ0=0;MQRankSum=-1.250;QD=11.27;ReadPosRankSum=1.620;SB=-2024.62;TI=NM_005236;GI=ERCC4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:147,140:287:99:3265,0,3276:0.488:99 chr16 14043393 . G A 6090.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.302;DP=545;Dels=0.00;FS=0.652;HRun=2;HaplotypeScore=33.4986;MQ=47.58;MQ0=0;MQRankSum=-2.311;QD=11.17;ReadPosRankSum=3.572;SB=-3627.21;TI=NM_005236;GI=ERCC4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:280,265:545:99:6090,0,6500:0.486:99 chr16 14044717 rs11075223 C A 3171.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.360;DP=275;Dels=0.00;FS=1.462;HRun=0;HaplotypeScore=10.0124;MQ=51.06;MQ0=0;MQRankSum=1.325;QD=11.53;ReadPosRankSum=-1.389;SB=-2122.07;TI=NM_005236;GI=ERCC4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:134,141:275:99:3201,0,3031:0.513:99 chr16 14044775 . GC G 5170.33 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=15.231;DP=377;FS=1.244;HRun=6;HaplotypeScore=1177.6869;MQ=48.27;MQ0=0;MQRankSum=-0.516;QD=13.71;ReadPosRankSum=0.554;SB=-2517.07;TI=NM_005236;GI=ERCC4;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:206,169:377:99:5170,0,5579:0.451:99 chr16 14044781 rs56012340 C A 3892.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.029;DP=363;Dels=0.00;FS=1.246;HRun=0;HaplotypeScore=25.8181;MQ=48.52;MQ0=0;MQRankSum=0.058;QD=10.72;ReadPosRankSum=-0.652;SB=-2805.76;TI=NM_005236;GI=ERCC4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:187,175:363:99:3892,0,4241:0.483:99 chr16 14045236 rs4781562 G T 1475.19 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.166;DP=104;Dels=0.00;FS=5.005;HRun=0;HaplotypeScore=11.1159;MQ=56.23;MQ0=0;MQRankSum=1.480;QD=14.18;ReadPosRankSum=0.407;SB=-734.66;TI=NM_005236;GI=ERCC4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:50,54:104:99:1505,0,1395:0.519:99 chr16 14045399 rs4781563 G A 2561.31 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.285;DP=288;Dels=0.00;FS=4.852;HRun=0;HaplotypeScore=13.6292;MQ=49.48;MQ0=0;MQRankSum=2.281;QD=8.89;ReadPosRankSum=2.977;SB=-1792.93;TI=NM_005236;GI=ERCC4;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:165,122:288:99:2591,0,3814:0.425:99 chr16 14046149 rs67426129 AT A 5975.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.103;DP=413;FS=0.355;HRun=8;HaplotypeScore=284.6887;MQ=50.00;MQ0=0;MQRankSum=0.610;QD=14.47;ReadPosRankSum=1.147;SB=-2820.38;TI=NM_005236;GI=ERCC4;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:212,200:413:99:5975,0,5150:0.485:99 chr16 23360199 rs238547 T C 4154.39 PASS AC=2;AF=1.00;AN=2;DP=163;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=4.6378;MQ=49.61;MQ0=0;QD=25.49;SB=-2720.72;TI=NM_000336;GI=SCNN1B;FC=Synonymous_P93P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,162:163:99:4154,295,0:1.000:99 chr16 23399945 . CT C 398.24 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.490;DP=130;FS=0.000;HRun=18;HaplotypeScore=558.5676;MQ=47.53;MQ0=0;MQRankSum=1.234;QD=3.06;ReadPosRankSum=0.311;SB=-177.47;TI=NM_153603;GI=COG7;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:87,18:130:99:437,0,613:0.171:99 chr16 28853996 rs3088215 A C 4881.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.241;DP=447;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=19.8332;MQ=45.55;MQ0=0;MQRankSum=-2.844;QD=10.92;ReadPosRankSum=0.136;SB=-3714.33;TI=NM_003321;GI=TUFM;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:220,227:447:99:4881,0,4707:0.508:99 chr16 28857645 rs7187776 A G 4387.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.481;DP=391;Dels=0.00;FS=0.768;HRun=1;HaplotypeScore=29.3869;MQ=50.68;MQ0=0;MQRankSum=-0.521;QD=11.22;ReadPosRankSum=-1.756;SB=-3042.37;TI=NM_003321;GI=TUFM;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:200,191:391:99:4388,0,4345:0.488:99 chr16 28944396 rs2904880 C G 8754.16 PASS AC=2;AF=1.00;AN=2;DP=343;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.4080;MQ=47.31;MQ0=0;QD=25.52;SB=-6508.15;TI=NM_001770,NM_001178098;GI=CD19,CD19;FC=Missense_L174V,Missense_L174V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,343:343:99:8754,614,0:1.000:99 chr16 28950574 rs10633752 A AGT 1856.51 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.710;DP=270;FS=0.000;HRun=0;HaplotypeScore=265.5939;MQ=48.99;MQ0=1;MQRankSum=2.533;QD=6.88;ReadPosRankSum=0.590;SB=-864.81;TI=NM_001770,NM_001178098;GI=CD19,CD19;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:187,54:269:99:1896,0,2481:0.224:99 chr16 53634295 rs1946155 C T 5707.00 PASS AC=2;AF=1.00;AN=2;DP=212;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.1320;MQ=49.72;MQ0=0;QD=26.92;SB=-3949.93;TI=NM_015272,NM_001127897;GI=RPGRIP1L,RPGRIP1L;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,212:212:99:5707,412,0:1.000:99 chr16 53634955 . C T 3302.46 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.822;DP=260;Dels=0.00;FS=2.129;HRun=1;HaplotypeScore=9.1522;MQ=53.78;MQ0=0;MQRankSum=2.368;QD=12.70;ReadPosRankSum=0.191;SB=-1994.26;TI=NM_015272,NM_001127897;GI=RPGRIP1L,RPGRIP1L;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:123,134:260:99:3302,0,2766:0.521:99 chr16 53635251 rs3760008 A C 4631.31 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.664;DP=136;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.3513;MQ=57.24;MQ0=0;MQRankSum=2.276;QD=34.05;ReadPosRankSum=2.082;SB=-2048.03;TI=NM_015272,NM_001127897;GI=RPGRIP1L,RPGRIP1L;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,132:136:99:4631,310,0:0.978:99 chr16 53635933 rs4784319 A T 4255.05 PASS AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=56.70;MQ0=0;QD=26.93;SB=-2612.53;TI=NM_015272,NM_001127897;GI=RPGRIP1L,RPGRIP1L;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,157:158:99:4255,304,0:1.000:99 chr16 53639438 rs3213758 C T 5074.07 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.569;DP=466;Dels=0.00;FS=0.700;HRun=1;HaplotypeScore=28.4611;MQ=47.90;MQ0=0;MQRankSum=-2.698;QD=10.89;ReadPosRankSum=-0.437;SB=-3691.45;TI=NM_015272,NM_001127897;GI=RPGRIP1L,RPGRIP1L;FC=Missense_D1264N,Missense_D1184N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:230,236:466:99:5074,0,4940:0.506:99 chr16 53656135 rs73607968 G C 1880.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.519;DP=181;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.0439;MQ=50.00;MQ0=0;MQRankSum=-1.213;QD=10.39;ReadPosRankSum=2.283;SB=-1225.27;TI=NM_015272,NM_001127897;GI=RPGRIP1L,RPGRIP1L;FC=Missense_T1143S,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:89,91:181:99:1910,0,2036:0.506:99 chr16 53671754 rs2111119 C T 9532.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.359;DP=886;Dels=0.00;FS=1.994;HRun=2;HaplotypeScore=31.4227;MQ=51.19;MQ0=0;MQRankSum=1.492;QD=10.76;ReadPosRankSum=0.158;SB=-6122.24;TI=NM_015272,NM_001127897;GI=RPGRIP1L,RPGRIP1L;FC=Missense_G1025S,Missense_G991S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:461,421:886:99:9532,0,10224:0.477:99 chr16 57495026 rs223870 T C 1601.22 PASS AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6823;MQ=54.15;MQ0=0;QD=29.11;SB=-737.48;TI=NM_020312;GI=COQ9;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,55:55:99:1634,120,0:1.000:99 chr16 66544113 . CAAAAA C,CAAAA 1484.04 LowVariantFreq;R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-1.299;DP=96;FS=7.869;HaplotypeScore=402.8687;MQ=43.47;MQ0=0;MQRankSum=-0.172;QD=15.46;ReadPosRankSum=-0.729;SB=-342.97;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 1/2:37,7,0:95:99:1562,323,1631,911,0,872:0.159:99 chr16 66584125 . G C 4928.23 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.852;DP=424;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=23.6197;MQ=49.22;MQ0=0;MQRankSum=0.139;QD=11.62;ReadPosRankSum=0.545;SB=-3178.88;TI=NM_001172643,NM_001172645,NM_001172644,NM_004614;GI=TK2,TK2,TK2,TK2;FC=Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:207,217:424:99:4928,0,4744:0.512:99 chr16 81129822 rs8052579;rs11551818 G A 82.75 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DP=12;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6988;MQ=28.26;MQ0=5;MQRankSum=0.198;QD=6.90;ReadPosRankSum=1.495;SB=-31.80;TI=NM_004483,NR_033249,NR_033247;GI=GCSH,GCSH,LOC100329108;FC=Missense_S21L,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,7:12:32.69:113,0,33:0.583:32 chr16 88494947 rs11648572 T C 7767.98 PASS AC=2;AF=1.00;AN=2;DP=286;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=18.4379;MQ=51.20;MQ0=0;QD=27.16;SB=-5015.34;TI=NM_001127464;GI=ZNF469;FC=Missense_S357P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,285:286:99:7768,557,0:1.000:99 chr16 88494976 rs11640794 A C 10431.30 PASS AC=2;AF=1.00;AN=2;DP=415;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=17.2395;MQ=48.99;MQ0=0;QD=25.14;SB=-7853.64;TI=NM_001127464;GI=ZNF469;FC=Missense_R366S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,415:415:99:10431,737,0:1.000:99 chr16 88495407 rs7199961 G C 4131.52 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.057;DP=152;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=10.9640;MQ=54.45;MQ0=0;MQRankSum=0.057;QD=27.18;ReadPosRankSum=0.287;SB=-2466.88;TI=NM_001127464;GI=ZNF469;FC=Missense_G510A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,150:152:99:4132,266,0:0.993:99 chr16 88495654 rs12927001 A G 2431.80 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.198;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.0714;MQ=54.03;MQ0=0;MQRankSum=2.198;QD=27.02;ReadPosRankSum=1.918;SB=-1520.69;TI=NM_001127464;GI=ZNF469;FC=Synonymous_P592P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,86:90:99:2465,158,0:0.977:99 chr16 88496008 rs12918876 T C 6123.02 PASS AC=2;AF=1.00;AN=2;DP=236;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.1518;MQ=49.92;MQ0=0;QD=25.94;SB=-3994.74;TI=NM_001127464;GI=ZNF469;FC=Synonymous_P710P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,235:236:99:6123,439,0:1.000:99 chr16 88497031 rs9924504 T C 2204.92 PASS AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=47.75;MQ0=0;QD=22.50;SB=-1808.76;TI=NM_001127464;GI=ZNF469;FC=Synonymous_I1051I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,98:98:99:2238,154,0:1.000:99 chr16 88497400 rs9938800 G A 1656.82 PASS AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7212;MQ=50.43;MQ0=0;QD=28.08;SB=-1109.29;TI=NM_001127464;GI=ZNF469;FC=Synonymous_P1146P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,59:59:99:1690,123,0:1.000:99 chr16 88497446 rs7197071 A G 1582.09 PASS AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=51.19;MQ0=0;QD=29.85;SB=-950.05;TI=NM_001127464;GI=ZNF469;FC=Missense_K1162E;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,53:53:99:1615,120,0:1.000:99 chr16 88498221 rs4782300 C T 3516.22 PASS AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7874;MQ=54.43;MQ0=0;QD=28.36;SB=-2267.59;TI=NM_001127464;GI=ZNF469;FC=Missense_P1420L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,124:124:99:3516,256,0:1.000:99 chr16 88498297 rs12445417 T G 4843.04 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.714;DP=189;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.0387;MQ=51.09;MQ0=0;MQRankSum=0.645;QD=25.62;ReadPosRankSum=0.534;SB=-3539.97;TI=NM_001127464;GI=ZNF469;FC=Synonymous_S1445S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,187:189:99:4843,346,0:0.995:99 chr16 88499539 rs9931465 C G 3988.50 PASS AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.9224;MQ=47.18;MQ0=0;QD=25.24;SB=-2851.73;TI=NM_001127464;GI=ZNF469;FC=Synonymous_T1859T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,158:158:99:3988,283,0:1.000:99 chr16 88501034 rs12598474 G C 663.09 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.572;DP=61;Dels=0.00;FS=2.130;HRun=2;HaplotypeScore=4.8768;MQ=54.67;MQ0=0;MQRankSum=1.483;QD=10.87;ReadPosRankSum=-0.369;SB=-460.44;TI=NM_001127464;GI=ZNF469;FC=Missense_G2358R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,28:61:99:693,0,912:0.459:99 chr16 88501971 rs3812956 T A 453.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.020;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=54.68;MQ0=0;MQRankSum=-1.330;QD=14.64;ReadPosRankSum=-0.179;SB=-197.22;TI=NM_001127464;GI=ZNF469;FC=Missense_L2670Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:14,17:31:99:484,0,416:0.548:99 chr16 88502482 rs3812953 C T 2428.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.429;DP=318;Dels=0.00;FS=4.633;HRun=2;HaplotypeScore=17.6887;MQ=50.70;MQ0=0;MQRankSum=3.891;QD=7.64;ReadPosRankSum=0.275;SB=-1617.94;TI=NM_001127464;GI=ZNF469;FC=Synonymous_R2840R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:193,123:318:99:2458,0,4206:0.389:99 chr16 88502505 rs1983014 A G 8871.19 PASS AC=2;AF=1.00;AN=2;DP=354;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=18.6142;MQ=49.34;MQ0=0;QD=25.06;SB=-6495.35;TI=NM_001127464;GI=ZNF469;FC=Missense_H2848R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,354:354:99:8871,623,0:1.000:99 chr16 88504850 rs1105066 G C 3007.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.242;DP=296;Dels=0.00;FS=1.401;HRun=0;HaplotypeScore=20.5488;MQ=47.09;MQ0=0;MQRankSum=0.181;QD=10.16;ReadPosRankSum=0.973;SB=-2050.44;TI=NM_001127464;GI=ZNF469;FC=Missense_E3630Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:157,139:296:99:3038,0,3508:0.470:99 chr16 88504868 rs904783 A G 5025.47 PASS AC=2;AF=1.00;AN=2;DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.9423;MQ=49.38;MQ0=0;QD=26.45;SB=-3481.47;TI=NM_001127464;GI=ZNF469;FC=Missense_T3636A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,190:190:99:5025,361,0:1.000:99 chr16 88505635 rs4782301 A G 1372.10 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.439;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.4083;MQ=55.64;MQ0=0;MQRankSum=1.297;QD=13.19;ReadPosRankSum=0.874;SB=-515.43;TI=NM_001127464;GI=ZNF469;FC=Synonymous_P3891P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:52,52:104:99:1402,0,1307:0.500:99 chr16 88505734 rs4782362 C T 9455.26 PASS AC=2;AF=1.00;AN=2;DP=392;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.4898;MQ=50.18;MQ0=0;QD=24.12;SB=-7226.37;TI=NM_001127464;GI=ZNF469;FC=Synonymous_S3924S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,390:392:99:9455,653,0:1.000:99 chr16 88505748 rs45504291 G A 4363.29 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.182;DP=377;Dels=0.00;FS=4.592;HRun=1;HaplotypeScore=15.4888;MQ=50.29;MQ0=0;MQRankSum=0.003;QD=11.57;ReadPosRankSum=1.852;SB=-3366.96;TI=NM_001127464;GI=ZNF469;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:168,209:377:99:4363,0,3560:0.554:99 chr16 88506358 rs3859020 T G 3281.29 PASS AC=2;AF=1.00;AN=2;DP=132;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5939;MQ=51.07;MQ0=0;QD=24.86;SB=-2224.32;TI=NM_001127464;GI=ZNF469;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,131:132:99:3281,235,0:1.000:99 chr16 88506528 rs3894713 G A 2326.56 PASS AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.1880;MQ=55.63;MQ0=0;QD=26.74;SB=-1402.82;TI=NM_001127464;GI=ZNF469;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,87:87:99:2360,175,0:1.000:99 chr16 88506599 rs67897677 AT A 836.00 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=2.609;DP=94;FS=0.000;HRun=11;HaplotypeScore=289.3391;MQ=54.32;MQ0=0;MQRankSum=1.937;QD=8.89;ReadPosRankSum=1.570;SB=-356.67;TI=NM_001127464;GI=ZNF469;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,38:94:99:875,0,1040:0.447:99 chr16 88506741 rs3848234 A G 1183.09 PASS AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52.71;MQ0=0;QD=31.13;SB=-630.14;TI=NM_001127464;GI=ZNF469;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,38:38:90.29:1216,90,0:1.000:90 chr17 3402521 rs1552830 C A 17646.62 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.590;DP=688;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=18.2854;MQ=51.06;MQ0=0;MQRankSum=-0.547;QD=25.65;ReadPosRankSum=-1.722;SB=-11759.57;TI=NM_001128085,NM_000049;GI=ASPA,ASPA;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,683:688:99:17647,1227,0:0.999:99 chr17 3561396 rs161400 C T 17385.99 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.888;DP=709;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=31.9617;MQ=51.11;MQ0=0;MQRankSum=-0.600;QD=24.52;ReadPosRankSum=0.320;SB=-13148.93;TI=NM_004937,NM_001031681;GI=CTNS,CTNS;FC=Missense_T260I,Missense_T260I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,705:709:99:17386,1225,0:0.996:99 chr17 3563963 rs2873624 C G 6894.99 PASS AC=2;AF=1.00;AN=2;DP=261;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2310;MQ=52.13;MQ0=0;QD=26.42;SB=-4214.27;TI=NM_004937,NM_001031681;GI=CTNS,CTNS;FC=Silent,Missense_P380A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,261:261:99:6895,494,0:1.000:99 chr17 3564400 rs222754 T A 8819.00 PASS AC=2;AF=1.00;AN=2;DP=360;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.0468;MQ=46.75;MQ0=0;QD=24.50;SB=-6528.91;TI=NM_004937,NM_001031681;GI=CTNS,CTNS;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,359:360:99:8819,617,0:1.000:99 chr17 3564401 rs224562 T G 9165.34 PASS AC=2;AF=1.00;AN=2;DP=366;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0468;MQ=46.61;MQ0=0;QD=25.04;SB=-6761.03;TI=NM_004937,NM_001031681;GI=CTNS,CTNS;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,366:366:99:9165,644,0:1.000:99 chr17 3565103 rs161398 A G 3817.69 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.466;DP=145;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=9.0026;MQ=53.64;MQ0=0;MQRankSum=-0.687;QD=26.33;ReadPosRankSum=-0.873;SB=-2268.77;TI=NM_004937,NM_001031681;GI=CTNS,CTNS;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,143:145:99:3818,238,0:0.986:99 chr17 3565605 . CAA C,CA 3004.98 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-0.978;DP=216;FS=1.442;HaplotypeScore=350.5787;MQ=47.55;MQ0=0;MQRankSum=-0.569;QD=13.91;ReadPosRankSum=-0.605;SB=-1487.03;TI=NM_004937,NM_001031681;GI=CTNS,CTNS;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:42,33,3:216:94.85:3083,2031,2973,95,0,284:0.462:94 chr17 3565969 rs161397 T C 2216.59 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.919;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.7339;MQ=53.37;MQ0=0;MQRankSum=2.850;QD=25.48;ReadPosRankSum=1.454;SB=-1569.55;TI=NM_004937,NM_001031681;GI=CTNS,CTNS;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,84:87:99:2250,160,0:0.966:99 chr17 3566045 rs71379528 T TC 7334.49 PASS AC=2;AF=1.00;AN=2;DP=176;FS=0.000;HRun=1;HaplotypeScore=271.4858;MQ=58.69;MQ0=0;QD=41.67;SB=-3393.61;TI=NM_004937,NM_001031681;GI=CTNS,CTNS;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,174:176:99:7334,529,0:0.989:99 chr17 3566232 rs7093 C T 3735.40 PASS AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0883;MQ=57.10;MQ0=0;QD=34.59;SB=-1475.73;TI=NM_004937,NM_001031681,NM_014604;GI=CTNS,CTNS,TAX1BP3;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,108:108:99:3735,283,0:1.000:99 chr17 7123240 . T TGGGCGTGCAGGACGC 12378.02 PASS AC=2;AF=1.00;AN=2;DP=112;FS=0.000;HRun=0;HaplotypeScore=89.2948;MQ=38.41;MQ0=0;QD=110.52;SB=-5137.43;TI=NM_001365,NM_000018,NM_001033859;GI=DLG4,ACADVL,ACADVL;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:56,51:112:99:12378,241,0:0.477:99 chr17 7487108 rs2075230 A G 7608.72 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.969;DP=693;Dels=0.00;FS=3.153;HRun=2;HaplotypeScore=35.2883;MQ=51.76;MQ0=0;MQRankSum=3.339;QD=10.98;ReadPosRankSum=2.134;SB=-4325.03;TI=NM_004870,NR_024603;GI=MPDU1,MPDU1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:367,325:693:99:7609,0,8726:0.470:99 chr17 7490810 rs10852891 G A 2395.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.141;DP=218;Dels=0.00;FS=3.104;HRun=0;HaplotypeScore=11.7275;MQ=50.17;MQ0=0;MQRankSum=0.219;QD=10.99;ReadPosRankSum=-1.374;SB=-1759.08;TI=NM_004870,NR_024603;GI=MPDU1,MPDU1;FC=Missense_A229T,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:108,109:218:99:2425,0,2447:0.502:99 chr17 7491177 rs4227 G T 5692.01 PASS AC=2;AF=1.00;AN=2;DP=223;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4704;MQ=50.18;MQ0=0;QD=25.52;SB=-3724.88;TI=NM_004870,NR_024603;GI=MPDU1,MPDU1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,223:223:99:5692,403,0:1.000:99 chr17 10584116 rs2040570 C T 4960.79 PASS AC=2;AF=1.00;AN=2;DP=171;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.1821;MQ=53.55;MQ0=0;QD=29.01;SB=-2877.40;TI=NM_004589;GI=SCO1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,171:171:99:4961,367,0:1.000:99 chr17 13972811 rs6502330 G A 5794.25 PASS AC=2;AF=1.00;AN=2;DP=232;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1693;MQ=50.75;MQ0=0;QD=24.98;SB=-4155.34;TI=NM_001303;GI=COX10;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,232:232:99:5794,412,0:1.000:99 chr17 13980350 rs8077302 G A 6764.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=5.840;DP=657;Dels=0.00;FS=5.697;HRun=1;HaplotypeScore=41.0238;MQ=52.21;MQ0=0;MQRankSum=3.744;QD=10.30;ReadPosRankSum=1.020;SB=-4377.21;TI=NM_001303;GI=COX10;FC=Missense_R159Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:364,292:657:99:6764,0,8522:0.445:99 chr17 14005439 rs2159132 G A 3464.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.851;DP=308;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3619;MQ=47.81;MQ0=0;MQRankSum=0.129;QD=11.25;ReadPosRankSum=0.350;SB=-2368.95;TI=NM_001303;GI=COX10;FC=Synonymous_L168L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:152,155:308:99:3465,0,3308:0.505:99 chr17 14095309 rs2230354 A G 1031.81 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.479;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9987;MQ=45.34;MQ0=8;MQRankSum=-0.042;QD=21.06;ReadPosRankSum=-0.972;SB=-468.51;TI=NM_001303;GI=COX10;FC=Synonymous_P233P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,48:49:49.01:1065,49,0:0.980:49 chr17 14110668 . GTT G,GT 5181.24 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-1.733;DP=199;FS=1.394;HaplotypeScore=425.9880;MQ=53.13;MQ0=0;MQRankSum=-0.151;QD=26.04;ReadPosRankSum=0.092;SB=-2381.26;TI=NM_001303;GI=COX10;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:28,145,0:199:51.37:5181,245,51,3684,0,3386:0.838:51 chr17 14110852 rs11078233 T C 6422.62 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.467;DP=263;Dels=0.00;FS=2.160;HRun=0;HaplotypeScore=16.4017;MQ=45.27;MQ0=0;MQRankSum=-0.480;QD=24.42;ReadPosRankSum=-1.302;SB=-4702.37;TI=NM_001303;GI=COX10;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:4,259:263:99:6423,382,0:0.985:99 chr17 14110901 rs11078234 A G 2902.26 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.082;DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.0292;MQ=51.26;MQ0=0;MQRankSum=0.856;QD=27.12;ReadPosRankSum=1.278;SB=-1668.91;TI=NM_001303;GI=COX10;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,103:107:99:2935,175,0:0.981:99 chr17 14111176 rs7214082 C A 3667.81 PASS AC=2;AF=1.00;AN=2;DP=139;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4413;MQ=52.41;MQ0=0;QD=26.39;SB=-2492.18;TI=NM_001303;GI=COX10;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,138:139:99:3668,262,0:1.000:99 chr17 14111287 rs1802618 T C 6866.17 PASS AC=2;AF=1.00;AN=2;DP=279;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3645;MQ=43.35;MQ0=4;QD=24.61;SB=-4904.59;TI=NM_001303;GI=COX10;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,279:279:99:6866,482,0:1.000:99 chr17 14111360 rs10603407 CCT C 3584.60 PASS AC=2;AF=1.00;AN=2;DP=78;FS=0.000;HRun=0;HaplotypeScore=192.1869;MQ=51.16;MQ0=4;QD=45.96;SB=-1694.08;TI=NM_001303;GI=COX10;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,76:73:99:3585,217,0:0.974:99 chr17 14111606 rs1050216 T C 5468.31 PASS AC=2;AF=1.00;AN=2;DP=198;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2312;MQ=55.35;MQ0=0;QD=27.62;SB=-3166.28;TI=NM_001303;GI=COX10;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,198:198:99:5468,394,0:1.000:99 chr17 19552131 . G A 4767.86 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.341;DP=518;Dels=0.00;FS=2.288;HRun=1;HaplotypeScore=30.3441;MQ=49.36;MQ0=0;MQRankSum=-1.500;QD=9.20;ReadPosRankSum=0.324;SB=-3274.66;TI=NM_001031806,NM_000382;GI=ALDH3A2,ALDH3A2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:286,232:518:99:4768,0,6114:0.448:99 chr17 19578873 rs7216 A T 9282.85 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.727;DP=353;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=23.2830;MQ=50.55;MQ0=0;MQRankSum=-1.067;QD=26.30;ReadPosRankSum=-0.177;SB=-5441.77;TI=NM_001031806,NM_000382;GI=ALDH3A2,ALDH3A2;FC=Silent,Synonymous_A482A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,351:353:99:9283,623,0:0.994:99 chr17 19580494 rs7215 A G 3519.82 PASS AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=55.26;MQ0=0;QD=31.15;SB=-1513.02;TI=NM_001031806,NM_000382;GI=ALDH3A2,ALDH3A2;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,113:113:99:3520,259,0:1.000:99 chr17 19580760 rs16420 TAC T 9552.11 PASS AC=2;AF=1.00;AN=2;DP=229;FS=0.000;HRun=0;HaplotypeScore=222.0817;MQ=58.24;MQ0=1;QD=41.71;SB=-4116.99;TI=NM_001031806,NM_000382;GI=ALDH3A2,ALDH3A2;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:21,199:228:99:9552,602,0:0.905:99 chr17 26861833 . C A 1552.64 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.368;DP=118;Dels=0.00;FS=4.663;HRun=0;HaplotypeScore=7.2921;MQ=51.49;MQ0=0;MQRankSum=-0.781;QD=13.16;ReadPosRankSum=-1.517;SB=-903.71;TI=NM_003593;GI=FOXN1;FC=Missense_P415H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:47,71:118:99:1583,0,1011:0.602:99 chr17 26864171 . C T 3029.09 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.535;DP=257;Dels=0.00;FS=2.792;HRun=0;HaplotypeScore=8.2957;MQ=47.22;MQ0=0;MQRankSum=0.054;QD=11.79;ReadPosRankSum=1.296;SB=-2230.11;TI=NM_003593;GI=FOXN1;FC=Missense_A555V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:115,141:257:99:3059,0,2303:0.551:99 chr17 33901917 rs35050283 TTAAG T 8692.83 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-6.650;DP=249;FS=2.157;HRun=0;HaplotypeScore=372.1309;MQ=54.98;MQ0=0;MQRankSum=-1.003;QD=34.91;ReadPosRankSum=1.489;SB=-4247.67;TI=NM_000286;GI=PEX12;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:117,132:249:99:8693,0,7410:0.530:99 chr17 33901965 rs10068 C G 3005.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.628;DP=264;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=19.1986;MQ=56.44;MQ0=0;MQRankSum=1.523;QD=11.38;ReadPosRankSum=-0.150;SB=-1626.18;TI=NM_000286;GI=PEX12;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:142,120:264:99:3035,0,3583:0.458:99 chr17 33902248 . TAAC T 4553.78 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-6.795;DP=153;FS=1.290;HRun=0;HaplotypeScore=316.0804;MQ=52.01;MQ0=0;MQRankSum=-0.533;QD=29.76;ReadPosRankSum=1.397;SB=-1990.42;TI=NM_000286;GI=PEX12;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:70,82:153:99:4554,0,3687:0.539:99 chr17 33902284 rs1046321 T C 3371.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.949;DP=327;Dels=0.00;FS=2.991;HRun=7;HaplotypeScore=32.9908;MQ=50.59;MQ0=0;MQRankSum=2.370;QD=10.31;ReadPosRankSum=-0.547;SB=-2117.37;TI=NM_000286;GI=PEX12;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:173,152:327:99:3372,0,4217:0.468:99 chr17 33902635 rs1037590 G T 836.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.624;DP=92;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=57.68;MQ0=0;MQRankSum=1.185;QD=9.09;ReadPosRankSum=0.490;SB=-616.43;TI=NM_000286;GI=PEX12;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:53,39:92:99:866,0,1351:0.424:99 chr17 33905468 rs321600 A G 2652.44 PASS AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1584;MQ=55.05;MQ0=0;QD=32.35;SB=-760.18;TI=NM_000286;GI=PEX12;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,82:82:99:2685,202,0:1.000:99 chr17 40689455 rs659497 T C 4219.32 PASS AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6274;MQ=45.47;MQ0=0;QD=23.84;SB=-3042.61;TI=NM_000263;GI=NAGLU;FC=Synonymous_S141S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,176:177:99:4219,292,0:1.000:99 chr17 40696233 rs86312 C G 11726.77 PASS AC=2;AF=1.00;AN=2;DP=455;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=28.0300;MQ=49.35;MQ0=0;QD=25.77;SB=-7395.06;TI=NM_000263;GI=NAGLU;FC=Missense_R737G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,454:455:99:11727,834,0:1.000:99 chr17 42086180 rs640631 C T 4727.70 PASS AC=2;AF=1.00;AN=2;DP=195;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.4632;MQ=47.79;MQ0=0;QD=24.24;SB=-3539.62;TI=NM_153006;GI=NAGS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,193:195:99:4728,334,0:1.000:99 chr17 42152103 rs3815076 G A 15734.20 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.639;DP=615;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=25.4756;MQ=49.72;MQ0=0;MQRankSum=1.296;QD=25.58;ReadPosRankSum=-1.511;SB=-11233.47;TI=NR_028581,NM_138387,NR_028582;GI=G6PC3,G6PC3,G6PC3;FC=Silent,Synonymous_T127T,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,612:615:99:15734,1080,0:0.997:99 chr17 46024660 rs7220104 A C 1114.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.173;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.6781;MQ=55.30;MQ0=0;MQRankSum=1.041;QD=12.95;ReadPosRankSum=-2.472;SB=-462.72;TI=NM_018129;GI=PNPO;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:39,47:86:99:1144,0,1029:0.547:99 chr17 46024791 . CT C 189.16 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.185;DP=90;FS=6.158;HRun=14;HaplotypeScore=353.7164;MQ=45.47;MQ0=0;MQRankSum=1.160;QD=2.10;ReadPosRankSum=0.475;SB=-100.88;TI=NM_018129;GI=PNPO;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,14:89:99:228,0,919:0.233:99 chr17 46024900 . C CT 266.27 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.582;DP=53;FS=2.163;HRun=12;HaplotypeScore=285.0199;MQ=43.96;MQ0=0;MQRankSum=-0.857;QD=5.02;ReadPosRankSum=-2.746;SB=-55.81;TI=NM_018129;GI=PNPO;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,12:52:99:305,0,457:0.267:99 chr17 46025052 rs1962201 A G 56.46 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.550;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9916;MQ=49.17;MQ0=0;MQRankSum=-0.937;QD=8.07;ReadPosRankSum=-1.300;SB=-27.42;TI=NM_018129;GI=PNPO;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,3:7:86.46:86,0,118:0.429:56 chr17 46026031 rs1986694 G C 1812.43 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.917;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.0061;MQ=54.25;MQ0=0;MQRankSum=1.559;QD=14.62;ReadPosRankSum=1.595;SB=-1256.69;TI=NM_018129;GI=PNPO;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,75:124:99:1842,0,1113:0.605:99 chr17 46026156 rs1986693 A G 7638.31 PASS AC=2;AF=1.00;AN=2;DP=308;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.2188;MQ=48.20;MQ0=0;QD=24.80;SB=-5899.09;TI=NM_018129;GI=PNPO;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,308:308:99:7638,536,0:1.000:99 chr17 48265495 rs1800215 T C 1617.23 PASS AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.7592;MQ=50.97;MQ0=0;QD=26.08;SB=-844.92;TI=NM_000088;GI=COL1A1;FC=Missense_T1075A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,61:62:99:1650,120,0:1.000:99 chr17 48268223 rs2734272 A G 4534.79 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.487;DP=192;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.9920;MQ=46.71;MQ0=0;MQRankSum=1.822;QD=23.62;ReadPosRankSum=1.204;SB=-3386.29;TI=NM_000088;GI=COL1A1;FC=Synonymous_T766T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,189:192:99:4535,277,0:0.984:99 chr17 71189182 rs3764359 A G 2269.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.015;DP=223;Dels=0.00;FS=1.095;HRun=1;HaplotypeScore=32.9620;MQ=49.92;MQ0=2;MQRankSum=0.851;QD=10.18;ReadPosRankSum=1.457;SB=-1171.61;TI=NM_018714;GI=COG1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:123,97:223:99:2299,0,2836:0.441:99 chr17 71192663 rs1052706 G A 1904.52 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.271;DP=225;Dels=0.00;FS=2.335;HRun=1;HaplotypeScore=9.0362;MQ=49.72;MQ0=0;MQRankSum=1.808;QD=8.46;ReadPosRankSum=1.218;SB=-1240.39;TI=NM_018714;GI=COG1;FC=Synonymous_Q111Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:132,93:225:99:1935,0,2970:0.413:99 chr17 71192873 rs11544800 A G 3475.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.166;DP=282;Dels=0.00;FS=2.025;HRun=1;HaplotypeScore=25.0478;MQ=49.11;MQ0=0;MQRankSum=-0.834;QD=12.32;ReadPosRankSum=0.154;SB=-2410.46;TI=NM_018714;GI=COG1;FC=Synonymous_A181A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:125,156:282:99:3475,0,2819:0.555:99 chr17 71196809 rs1026128 A G 4978.48 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.256;DP=493;Dels=0.00;FS=1.446;HRun=0;HaplotypeScore=32.5548;MQ=51.16;MQ0=0;MQRankSum=1.064;QD=10.10;ReadPosRankSum=-1.156;SB=-3707.22;TI=NM_018714;GI=COG1;FC=Missense_N392S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:254,238:493:99:4978,0,5635:0.484:99 chr17 71197748 rs1037256 G A 3233.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.829;DP=291;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.2582;MQ=44.81;MQ0=0;MQRankSum=1.079;QD=11.11;ReadPosRankSum=1.741;SB=-2423.08;TI=NM_018714;GI=COG1;FC=Synonymous_E594E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:138,151:291:99:3264,0,2974:0.522:99 chr17 72912265 rs1568448 C G 838.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.011;DP=89;Dels=0.00;FS=1.755;HRun=0;HaplotypeScore=0.8941;MQ=48.59;MQ0=0;MQRankSum=1.688;QD=9.42;ReadPosRankSum=3.123;SB=-470.68;TI=NM_173477;GI=USH1G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:51,38:89:99:868,0,1178:0.427:99 chr17 72913072 rs690566 T C 1427.54 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.533;DP=140;Dels=0.00;FS=1.388;HRun=0;HaplotypeScore=14.5915;MQ=43.52;MQ0=0;MQRankSum=-0.672;QD=10.20;ReadPosRankSum=-1.013;SB=-881.61;TI=NM_173477;GI=USH1G;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:71,68:140:99:1458,0,1411:0.489:99 chr17 72913796 rs55654382 CT C 3541.74 PASS AC=2;AF=1.00;AN=2;DP=82;FS=0.000;HRun=1;HaplotypeScore=143.0807;MQ=55.25;MQ0=0;QD=43.19;SB=-1408.11;TI=NM_173477;GI=USH1G;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,79:82:99:3542,241,0:0.988:99 chr17 73512653 rs7216673 G T 44.47 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=35.72;MQ0=0;MQRankSum=-0.922;QD=5.56;ReadPosRankSum=0.000;SB=-52.67;TI=NM_207346;GI=TSEN54;FC=Missense_E4D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,4:8:74.47:74,0,99:0.500:44 chr17 73518203 rs9911502 G C 432.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.050;DP=23;Dels=0.00;FS=10.704;HRun=1;HaplotypeScore=5.5656;MQ=57.97;MQ0=0;MQRankSum=-1.340;QD=18.81;ReadPosRankSum=-0.109;SB=-203.36;TI=NM_207346;GI=TSEN54;FC=Missense_K347N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,13:23:99:463,0,252:0.619:99 chr17 73518284 rs6501820 G C 865.95 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.476;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3191;MQ=51.70;MQ0=0;MQRankSum=0.141;QD=11.70;ReadPosRankSum=1.115;SB=-621.85;TI=NM_207346;GI=TSEN54;FC=Synonymous_R374R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,39:74:99:896,0,789:0.527:99 chr17 73519413 rs8064529 C T 5116.08 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.042;DP=492;Dels=0.00;FS=2.855;HRun=0;HaplotypeScore=28.2833;MQ=46.93;MQ0=0;MQRankSum=-2.665;QD=10.40;ReadPosRankSum=-1.175;SB=-3901.20;TI=NM_207346;GI=TSEN54;FC=Missense_A437V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:244,247:492:99:5116,0,5142:0.503:99 chr17 73732428 rs2290460 G A 7368.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.006;DP=665;Dels=0.00;FS=9.238;HRun=0;HaplotypeScore=21.7753;MQ=47.14;MQ0=0;MQRankSum=2.043;QD=11.08;ReadPosRankSum=-1.048;SB=-4834.79;TI=NM_000213,NM_001005731,NM_001005619;GI=ITGB4,ITGB4,ITGB4;FC=Synonymous_S607S,Synonymous_S607S,Synonymous_S607S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:333,331:665:99:7368,0,7051:0.498:99 chr17 73736065 . C T 3130.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.316;DP=285;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.0421;MQ=50.64;MQ0=0;MQRankSum=0.352;QD=10.98;ReadPosRankSum=0.761;SB=-2365.28;TI=NM_000213,NM_001005731,NM_001005619;GI=ITGB4,ITGB4,ITGB4;FC=Missense_R787C,Missense_R787C,Missense_R787C;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:135,150:285:99:3160,0,2997:0.526:99 chr17 73750859 rs8669 C G 7325.57 PASS AC=2;AF=1.00;AN=2;DP=300;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.6278;MQ=47.89;MQ0=0;QD=24.42;SB=-5409.32;TI=NM_000213,NM_001005731,NM_001005619;GI=ITGB4,ITGB4,ITGB4;FC=Synonymous_P1507P,Synonymous_P1437P,Synonymous_P1437P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,299:300:99:7326,518,0:1.000:99 chr17 73753503 rs871443 T C 1531.29 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.924;DP=118;Dels=0.00;FS=0.690;HRun=1;HaplotypeScore=2.7291;MQ=55.88;MQ0=0;MQRankSum=4.226;QD=12.98;ReadPosRankSum=1.043;SB=-1077.60;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 0/1:51,67:118:99:1561,0,1256:0.568:99 chr17 73824121 rs7210574 T C 2610.41 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.756;DP=249;Dels=0.00;FS=1.558;HRun=1;HaplotypeScore=17.6898;MQ=47.45;MQ0=0;MQRankSum=-1.120;QD=10.48;ReadPosRankSum=0.142;SB=-1945.60;TI=NM_199242;GI=UNC13D;FC=Synonymous_E1066E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:124,125:249:99:2640,0,2641:0.502:99 chr17 73827205 rs1135688 T C 4647.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.304;DP=423;Dels=0.00;FS=1.140;HRun=0;HaplotypeScore=27.3573;MQ=49.99;MQ0=0;MQRankSum=-1.000;QD=10.99;ReadPosRankSum=2.667;SB=-3367.97;TI=NM_199242;GI=UNC13D;FC=Missense_K867E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:214,209:423:99:4648,0,4617:0.494:99 chr17 73831016 rs2290770 G A 2893.77 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.797;DP=274;Dels=0.00;FS=0.924;HRun=0;HaplotypeScore=12.7151;MQ=46.84;MQ0=0;MQRankSum=-1.006;QD=10.56;ReadPosRankSum=-0.923;SB=-2152.38;TI=NM_199242;GI=UNC13D;FC=Synonymous_T659T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:140,134:274:99:2924,0,2998:0.489:99 chr17 73836162 rs7223416 C G 3089.09 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.861;DP=270;Dels=0.00;FS=1.459;HRun=2;HaplotypeScore=19.0775;MQ=50.69;MQ0=0;MQRankSum=-0.154;QD=11.44;ReadPosRankSum=0.687;SB=-2254.04;TI=NM_199242;GI=UNC13D;FC=Synonymous_P296P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:129,141:270:99:3119,0,3000:0.522:99 chr17 73839137 rs3744007 G A 1395.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.327;DP=108;Dels=0.00;FS=4.797;HRun=0;HaplotypeScore=9.2806;MQ=51.94;MQ0=0;MQRankSum=0.412;QD=12.92;ReadPosRankSum=0.430;SB=-762.53;TI=NM_199242;GI=UNC13D;FC=Synonymous_P93P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:53,55:108:99:1425,0,1327:0.509:99 chr17 73840668 rs57161046 G A 322.90 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.734;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3537;MQ=53.02;MQ0=0;MQRankSum=-0.027;QD=12.42;ReadPosRankSum=-0.462;SB=-49.66;TI=NM_199242;GI=UNC13D;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,13:26:99:353,0,294:0.520:99 chr17 73938957 rs2608880 C T 1994.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.731;DP=193;Dels=0.00;FS=1.147;HRun=1;HaplotypeScore=15.7832;MQ=56.73;MQ0=0;MQRankSum=1.960;QD=10.33;ReadPosRankSum=0.674;SB=-1181.17;TI=NM_004035,NM_007292,NM_001185039;GI=ACOX1,ACOX1,ACOX1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:103,88:193:99:2025,0,2333:0.461:99 chr17 73941955 rs12430 G A 3749.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.296;DP=306;Dels=0.00;FS=1.381;HRun=0;HaplotypeScore=22.8766;MQ=47.71;MQ0=0;MQRankSum=-0.435;QD=12.25;ReadPosRankSum=1.885;SB=-2485.28;TI=NM_004035,NM_007292,NM_001185039;GI=ACOX1,ACOX1,ACOX1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:140,165:305:99:3749,0,3053:0.541:99 chr17 73942150 rs3682 A G 2170.25 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.185;DP=150;Dels=0.00;FS=4.041;HRun=0;HaplotypeScore=4.6817;MQ=53.11;MQ0=0;MQRankSum=0.571;QD=14.47;ReadPosRankSum=0.013;SB=-1232.50;TI=NM_004035,NM_007292,NM_001185039;GI=ACOX1,ACOX1,ACOX1;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:62,88:150:99:2200,0,1685:0.587:99 chr17 73949540 rs1135640 G C 3848.10 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.048;DP=349;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=27.6136;MQ=44.71;MQ0=0;MQRankSum=-1.034;QD=11.03;ReadPosRankSum=0.094;SB=-2766.62;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 0/1:169,179:349:99:3848,0,3494:0.514:99 chr17 78078709 rs1800300 T C 3820.86 PASS AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.1596;MQ=47.61;MQ0=0;QD=25.99;SB=-2754.74;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 1/1:0,147:147:99:3821,274,0:1.000:99 chr17 78079597 rs1042393 A G 6927.66 PASS AC=2;AF=1.00;AN=2;DP=276;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.8307;MQ=48.98;MQ0=0;QD=25.10;SB=-5021.95;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 1/1:0,276:276:99:6928,491,0:1.000:99 chr17 78079669 rs1042395 G A 6505.42 PASS AC=2;AF=1.00;AN=2;DP=257;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1104;MQ=48.12;MQ0=0;QD=25.31;SB=-4647.16;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 1/1:0,257:257:99:6505,461,0:1.000:99 chr17 78082504 rs1800304 G A 8500.32 PASS AC=2;AF=1.00;AN=2;DP=344;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=16.3263;MQ=48.16;MQ0=0;QD=24.71;SB=-6552.67;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 1/1:0,344:344:99:8500,593,0:1.000:99 chr17 78085871 rs1800307 G A 3931.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.109;DP=315;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.7359;MQ=45.93;MQ0=0;MQRankSum=-0.448;QD=12.48;ReadPosRankSum=-0.887;SB=-2970.50;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Missense_G576S,Missense_G576S,Missense_G576S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:131,182:315:99:3932,0,2640:0.581:99 chr17 78087041 rs1800309 G A 11386.08 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.700;DP=436;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=18.6252;MQ=50.06;MQ0=0;MQRankSum=1.700;QD=26.11;ReadPosRankSum=1.350;SB=-7179.37;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Missense_E689K,Missense_E689K,Missense_E689K;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,434:436:99:11386,810,0:0.998:99 chr17 78087109 rs1800310 A G 7188.78 PASS AC=2;AF=1.00;AN=2;DP=268;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.5350;MQ=47.93;MQ0=0;QD=26.82;SB=-4411.73;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Synonymous_T711T,Synonymous_T711T,Synonymous_T711T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,267:268:99:7189,515,0:1.000:99 chr17 78091405 rs1126690 G A 14721.19 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.295;DP=558;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=29.3219;MQ=49.74;MQ0=0;MQRankSum=0.068;QD=26.38;ReadPosRankSum=0.412;SB=-9591.49;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 1/1:2,554:558:99:14721,1043,0:0.996:99 chr17 78093268 rs3833862 C CG 1059.00 PASS AC=2;AF=1.00;AN=2;DP=26;FS=0.000;HRun=1;HaplotypeScore=42.1708;MQ=59.95;MQ0=0;QD=40.73;SB=-381.94;TI=NM_001079803,NM_000152,NM_001079804;GI=GAA,GAA,GAA;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,26:26:78.26:1101,78,0:1.000:78 chr17 78183321 . G A 34.13 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=4.404;DP=397;Dels=0.00;FS=44.152;HRun=1;HaplotypeScore=22.8401;MQ=48.29;MQ0=0;MQRankSum=-7.369;QD=0.09;ReadPosRankSum=-6.641;SB=-0.01;TI=NM_000199;GI=SGSH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:368,28:397:64.13:64,0,9349:0.071:34 chr17 78183322 . A G 37.14 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=3.654;DP=403;Dels=0.00;FS=47.123;HRun=1;HaplotypeScore=21.9460;MQ=48.37;MQ0=0;MQRankSum=-7.425;QD=0.09;ReadPosRankSum=-6.440;SB=-0.01;TI=NM_000199;GI=SGSH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:372,29:403:67.14:67,0,9343:0.072:37 chr17 78183323 . C T 22.09 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=2.835;DP=404;Dels=0.00;FS=44.242;HRun=0;HaplotypeScore=32.2568;MQ=48.40;MQ0=0;MQRankSum=-7.586;QD=0.05;ReadPosRankSum=-6.288;SB=-0.01;TI=NM_000199;GI=SGSH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:375,28:403:52.06:52,0,9560:0.069:22 chr17 78183328 . T C 143.73 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=2.684;DP=432;Dels=0.00;FS=54.918;HRun=2;HaplotypeScore=30.6192;MQ=47.80;MQ0=0;MQRankSum=-8.399;QD=0.33;ReadPosRankSum=-5.785;SB=-0.01;TI=NM_000199;GI=SGSH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:393,37:432:99:174,0,9613:0.086:99 chr17 78183330 . C G 89.01 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=2.520;DP=436;Dels=0.00;FS=55.403;HRun=0;HaplotypeScore=41.3424;MQ=47.87;MQ0=0;MQRankSum=-8.417;QD=0.20;ReadPosRankSum=-6.270;SB=-0.01;TI=NM_000199;GI=SGSH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:399,36:436:99:119,0,9968:0.083:89 chr17 78183396 rs1046832 A G 10966.16 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.523;DP=533;Dels=0.00;FS=48.481;HRun=0;HaplotypeScore=70.5012;MQ=47.72;MQ0=4;MQRankSum=7.052;QD=20.57;ReadPosRankSum=4.412;SB=-7679.05;TI=NM_000199;GI=SGSH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:53,475:533:99:10966,0,103:0.900:99 chr17 78183403 rs709677 G C 14484.53 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=3.478;DP=578;Dels=0.00;FS=7.131;HRun=1;HaplotypeScore=69.3376;MQ=47.72;MQ0=6;MQRankSum=1.437;QD=25.06;ReadPosRankSum=2.719;SB=-8525.94;TI=NM_000199;GI=SGSH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:5,571:578:99:14485,1063,0:0.991:99 chr17 78183411 rs709678 T C 14646.47 PASS AC=2;AF=1.00;AN=2;DP=571;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=84.7541;MQ=48.13;MQ0=4;QD=25.65;SB=-9074.98;TI=NM_000199;GI=SGSH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,569:571:99:14646,1110,0:1.000:99 chr17 78183936 rs2071148 G A 2675.53 PASS AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.7159;MQ=55.42;MQ0=0;QD=27.30;SB=-1442.15;TI=NM_000199;GI=SGSH;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,98:98:99:2709,196,0:1.000:99 chr18 21112206 rs1805084 C T 4939.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.222;DP=485;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=18.8408;MQ=46.15;MQ0=0;MQRankSum=-2.980;QD=10.18;ReadPosRankSum=1.505;SB=-3792.47;TI=NM_000271;GI=NPC1;FC=Missense_R1266Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:247,238:485:99:4939,0,5425:0.491:99 chr18 21119777 rs1140458 G A 3892.12 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.882;DP=342;Dels=0.00;FS=1.788;HRun=1;HaplotypeScore=9.3361;MQ=47.71;MQ0=0;MQRankSum=0.836;QD=11.38;ReadPosRankSum=1.633;SB=-2647.22;TI=NM_000271;GI=NPC1;FC=Synonymous_N931N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:174,168:342:99:3892,0,3754:0.491:99 chr18 21120444 rs1805082 T C 6512.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.536;DP=520;Dels=0.00;FS=1.060;HRun=0;HaplotypeScore=91.4544;MQ=48.50;MQ0=0;MQRankSum=-0.047;QD=12.52;ReadPosRankSum=1.157;SB=-3324.34;TI=NM_000271;GI=NPC1;FC=Missense_I858V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:250,264:520:99:6512,0,6053:0.514:99 chr18 21124945 rs1788799 C G 13837.36 PASS AC=2;AF=1.00;AN=2;DP=516;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=65.5890;MQ=49.61;MQ0=0;QD=26.82;SB=-9340.39;TI=NM_000271;GI=NPC1;FC=Missense_M642I;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,510:516:99:13837,1002,0:1.000:99 chr18 21166329 rs2303880 T G 4375.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.942;DP=373;Dels=0.00;FS=1.230;HRun=1;HaplotypeScore=8.9527;MQ=48.53;MQ0=0;MQRankSum=0.592;QD=11.73;ReadPosRankSum=-0.345;SB=-3072.45;TI=NM_000271;GI=NPC1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:170,203:373:99:4376,0,3606:0.544:99 chr18 21413869 rs9962023 T C 9670.89 PASS AC=2;AF=1.00;AN=2;DP=392;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=26.5846;MQ=48.35;MQ0=0;QD=24.67;SB=-6788.07;TI=NM_001127717,NM_198129;GI=LAMA3,LAMA3;FC=Synonymous_A967A,Synonymous_A967A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,392:392:99:9671,680,0:1.000:99 chr18 21511089 rs1154233 A G 17007.07 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.374;DP=652;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=33.6216;MQ=49.55;MQ0=0;MQRankSum=0.043;QD=26.08;ReadPosRankSum=-0.315;SB=-12019.01;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 1/1:2,647:652:99:17007,1207,0:0.997:99 chr18 52890912 . C CT 393.04 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.279;DP=105;FS=5.949;HRun=15;HaplotypeScore=737.3904;MQ=44.25;MQ0=0;MQRankSum=-0.169;QD=3.74;ReadPosRankSum=-0.169;SB=-125.98;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:53,21:105:99:432,0,689:0.284:99 chr18 52891395 rs66807288 CT C 220.36 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.554;DP=140;FS=5.308;HRun=15;HaplotypeScore=753.5388;MQ=46.76;MQ0=0;MQRankSum=0.882;QD=1.57;ReadPosRankSum=0.646;SB=-89.63;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:91,21:140:99:259,0,1653:0.188:99 chr18 52894479 . CA C 488.88 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.585;DP=252;FS=1.046;HRun=13;HaplotypeScore=717.3153;MQ=51.76;MQ0=0;MQRankSum=3.105;QD=1.94;ReadPosRankSum=-0.130;SB=-176.56;TI=NM_001083962,NM_003199;GI=TCF4,TCF4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:179,43:252:99:528,0,3686:0.194:99 chr18 53303101 rs611326 C G 12343.22 PASS AC=2;AF=1.00;AN=2;DP=484;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=31.8546;MQ=51.33;MQ0=0;QD=25.50;SB=-8586.28 GT:AD:DP:GQ:PL:VF:GQX 1/1:0,483:484:99:12343,870,0:1.000:99 chr18 55313704 rs35833803 AT A 6314.01 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.190;DP=488;FS=1.102;HRun=7;HaplotypeScore=408.9474;MQ=56.19;MQ0=0;MQRankSum=1.114;QD=12.94;ReadPosRankSum=0.542;SB=-2552.18;TI=NM_005603;GI=ATP8B1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:269,219:488:99:6314,0,6880:0.449:99 chr18 55314211 rs1968274 T C 9368.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=6.034;DP=850;Dels=0.00;FS=0.249;HRun=0;HaplotypeScore=49.1675;MQ=54.02;MQ0=0;MQRankSum=5.112;QD=11.02;ReadPosRankSum=-1.069;SB=-6145.25;TI=NM_005603;GI=ATP8B1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:439,406:850:99:9368,0,9896:0.480:99 chr18 55314820 rs4940950 C A 19453.17 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.297;DP=709;Dels=0.00;FS=2.362;HRun=0;HaplotypeScore=35.1331;MQ=53.48;MQ0=0;MQRankSum=-0.540;QD=27.44;ReadPosRankSum=1.163;SB=-11804.77;TI=NM_005603;GI=ATP8B1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,705:708:99:19453,1315,0:0.996:99 chr18 55315437 rs11152024 C T 1895.02 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.572;DP=172;Dels=0.01;FS=2.757;HRun=1;HaplotypeScore=22.6911;MQ=55.73;MQ0=0;MQRankSum=1.326;QD=11.02;ReadPosRankSum=-0.367;SB=-893.94;TI=NM_005603;GI=ATP8B1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:98,72:170:99:1925,0,2637:0.424:99 chr18 55315732 rs2271771 G T 4321.03 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.764;DP=425;Dels=0.00;FS=2.664;HRun=0;HaplotypeScore=20.3844;MQ=49.78;MQ0=0;MQRankSum=2.250;QD=10.17;ReadPosRankSum=-0.242;SB=-2358.21;TI=NM_005603;GI=ATP8B1;FC=Synonymous_T1248T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:241,184:425:99:4321,0,5726:0.433:99 chr18 55317653 . G A 4148.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.917;DP=409;Dels=0.00;FS=1.621;HRun=0;HaplotypeScore=13.5524;MQ=48.73;MQ0=0;MQRankSum=-1.213;QD=10.14;ReadPosRankSum=0.195;SB=-3052.21;TI=NM_005603;GI=ATP8B1;FC=Synonymous_P1159P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:216,192:409:99:4149,0,4987:0.471:99 chr18 55317676 rs222581 C T 10284.51 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.088;DP=416;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=29.4949;MQ=49.70;MQ0=0;MQRankSum=1.715;QD=24.72;ReadPosRankSum=0.326;SB=-7439.53;TI=NM_005603;GI=ATP8B1;FC=Missense_A1152T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,413:416:99:10285,695,0:0.998:99 chr18 55336626 rs35470719 A G 9273.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.964;DP=740;Dels=0.00;FS=3.893;HRun=0;HaplotypeScore=36.2940;MQ=52.63;MQ0=0;MQRankSum=4.087;QD=12.53;ReadPosRankSum=-0.719;SB=-4544.00;TI=NM_005603;GI=ATP8B1;FC=Missense_M674T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:385,354:740:99:9274,0,10123:0.479:99 chr18 55342156 rs3745078 T C 4651.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.228;DP=430;Dels=0.00;FS=3.606;HRun=0;HaplotypeScore=6.4425;MQ=50.68;MQ0=0;MQRankSum=1.571;QD=10.82;ReadPosRankSum=-0.832;SB=-3045.37;TI=NM_005603;GI=ATP8B1;FC=Missense_I577V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:218,212:430:99:4652,0,4965:0.493:99 chr18 55362532 rs319443 T G 21700.99 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.557;DP=752;Dels=0.00;FS=3.446;HRun=1;HaplotypeScore=35.7962;MQ=53.47;MQ0=0;MQRankSum=0.416;QD=28.86;ReadPosRankSum=-0.346;SB=-12815.66;TI=NM_005603;GI=ATP8B1;FC=Synonymous_R271R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,749:752:99:21701,1600,0:0.999:99 chr18 55364852 rs319438 A G 11272.58 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.684;DP=435;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=30.3835;MQ=50.06;MQ0=0;MQRankSum=1.596;QD=25.91;ReadPosRankSum=1.724;SB=-7884.47;TI=NM_005603;GI=ATP8B1;FC=Synonymous_D232D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,433:435:99:11273,804,0:0.998:99 chr18 55373767 rs3745079 G C 11040.92 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.891;DP=945;Dels=0.00;FS=0.236;HRun=0;HaplotypeScore=50.0536;MQ=53.18;MQ0=0;MQRankSum=3.747;QD=11.68;ReadPosRankSum=0.974;SB=-6582.05;TI=NM_005603;GI=ATP8B1;FC=Missense_H78Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:476,468:945:99:11041,0,11347:0.496:99 chr18 55470310 rs1848701 G A 89.51 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=22.38;SB=-40.01;TI=NM_005603;GI=ATP8B1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,4:4:9.03:122,9,0:1.000:9 chr19 7112593 rs1052371 G A 5057.45 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.897;DP=500;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=20.8302;MQ=47.25;MQ0=0;MQRankSum=-0.213;QD=10.11;ReadPosRankSum=-1.850;SB=-3526.40;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:267,233:500:99:5057,0,6042:0.466:99 chr19 7112872 rs1366601 A G 3876.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.260;DP=351;Dels=0.01;FS=4.211;HRun=2;HaplotypeScore=39.8534;MQ=53.01;MQ0=0;MQRankSum=0.450;QD=11.04;ReadPosRankSum=0.980;SB=-2776.63;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:167,178:346:99:3876,0,3629:0.516:99 chr19 7112881 rs1366600 A G 3492.62 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.721;DP=318;Dels=0.00;FS=5.901;HRun=1;HaplotypeScore=36.9253;MQ=53.89;MQ0=0;MQRankSum=0.097;QD=10.98;ReadPosRankSum=0.031;SB=-2492.55;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:156,161:318:99:3493,0,3544:0.508:99 chr19 7114288 rs3745551 C T 3877.72 PASS AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.9286;MQ=55.46;MQ0=0;QD=27.31;SB=-2664.40;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,142:142:99:3878,283,0:1.000:99 chr19 7114920 . G GT 4653.32 LowGQ;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.735;DP=232;FS=10.523;HRun=10;HaplotypeScore=392.5077;MQ=55.39;MQ0=0;MQRankSum=1.071;QD=20.06;ReadPosRankSum=-0.563;SB=-2353.55;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,176:232:19.85:4653,0,20:0.834:19 chr19 7116136 . C CT 1019.40 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.591;DP=121;FS=5.387;HRun=13;HaplotypeScore=536.4892;MQ=44.62;MQ0=0;MQRankSum=-1.124;QD=8.42;ReadPosRankSum=-0.200;SB=-421.84;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:57,38:120:99:1058,0,316:0.400:99 chr19 7116710 . G A 223.05 SB AC=1;AF=0.50;AN=2;BaseQRankSum=2.928;DP=62;Dels=0.02;FS=72.927;HRun=1;HaplotypeScore=75.3065;MQ=31.16;MQ0=0;MQRankSum=-1.949;QD=3.60;ReadPosRankSum=3.959;SB=-0.01;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:46,14:61:99:253,0,1074:0.233:99 chr19 7116711 . C A 263.28 SB AC=1;AF=0.50;AN=2;BaseQRankSum=3.875;DP=59;Dels=0.00;FS=79.088;HRun=21;HaplotypeScore=56.1492;MQ=30.83;MQ0=0;MQRankSum=-0.704;QD=4.46;ReadPosRankSum=3.840;SB=-0.01;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,14:59:99:293,0,1016:0.237:99 chr19 7116733 . G A 342.90 SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.477;DP=58;Dels=0.00;FS=95.470;HRun=21;HaplotypeScore=29.9354;MQ=31.04;MQ0=0;MQRankSum=0.360;QD=5.91;ReadPosRankSum=-4.306;SB=1.25;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:37,20:58:99:373,0,821:0.351:99 chr19 7116778 rs41416247 TG T 1549.19 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.732;DP=53;FS=0.000;HRun=6;HaplotypeScore=484.1310;MQ=43.24;MQ0=0;MQRankSum=1.069;QD=29.23;ReadPosRankSum=-0.995;SB=-765.99;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:23,29:52:99:1591,136,0:0.558:99 chr19 7116963 rs1051690 T C 7212.80 PASS AC=2;AF=1.00;AN=2;DP=280;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.0881;MQ=46.79;MQ0=0;QD=25.76;SB=-5218.60;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,280:280:99:7213,524,0:1.000:99 chr19 7166388 rs2229429 G A 2738.56 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.936;DP=247;Dels=0.00;FS=0.981;HRun=0;HaplotypeScore=11.1244;MQ=48.35;MQ0=0;MQRankSum=2.034;QD=11.09;ReadPosRankSum=-0.614;SB=-1860.43;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Synonymous_D546D,Synonymous_D546D;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:121,126:247:99:2769,0,2590:0.510:99 chr19 7293898 rs7508518 G C 97.51 LowGQ;LowGQX;LowDP AC=2;AF=1.00;AN=2;DP=6;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=37.00;MQ0=0;QD=16.25;SB=-79.33;TI=NM_001079817,NM_000208;GI=INSR,INSR;FC=Missense_A2G,Missense_A2G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,6:6:9.03:130,9,0:1.000:9 chr19 7707369 rs34450592 G A 3786.97 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.106;DP=323;Dels=0.00;FS=1.341;HRun=1;HaplotypeScore=22.1451;MQ=48.90;MQ0=0;MQRankSum=0.276;QD=11.72;ReadPosRankSum=0.620;SB=-2368.67;TI=NM_006949,NM_001127396;GI=STXBP2,STXBP2;FC=Synonymous_E283E,Synonymous_E280E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:151,171:322:99:3787,0,3374:0.531:99 chr19 7712277 rs6791 A G 3040.88 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.742;DP=310;Dels=0.00;FS=2.465;HRun=0;HaplotypeScore=17.1518;MQ=47.32;MQ0=0;MQRankSum=-0.683;QD=9.81;ReadPosRankSum=0.209;SB=-2178.35;TI=NM_006949,NM_001127396;GI=STXBP2,STXBP2;FC=Missense_I526V,Missense_I523V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:169,141:310:99:3071,0,3572:0.455:99 chr19 7712364 rs61736586 A G 3185.67 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.844;DP=315;Dels=0.00;FS=0.411;HRun=3;HaplotypeScore=14.7267;MQ=47.72;MQ0=0;MQRankSum=-1.338;QD=10.11;ReadPosRankSum=1.461;SB=-2403.61;TI=NM_006949,NM_001127396;GI=STXBP2,STXBP2;FC=Missense_R555G,Missense_R552G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:165,150:315:99:3216,0,3545:0.476:99 chr19 12774561 rs11554970 C T 3621.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.367;DP=304;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=20.0973;MQ=52.28;MQ0=0;MQRankSum=1.450;QD=11.91;ReadPosRankSum=-3.632;SB=-2462.46;TI=NM_001173498,NM_000528;GI=MAN2B1,MAN2B1;FC=Missense_R240Q,Missense_R240Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:139,165:304:99:3621,0,2956:0.543:99 chr19 13008607 rs1060218 G T 2918.74 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.976;DP=279;Dels=0.00;FS=0.443;HRun=0;HaplotypeScore=16.3877;MQ=49.73;MQ0=0;MQRankSum=0.660;QD=10.46;ReadPosRankSum=0.794;SB=-2075.31;TI=NM_000159,NM_013976;GI=GCDH,GCDH;FC=Synonymous_G391G,Synonymous_G391G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:143,135:279:99:2949,0,2884:0.486:99 chr19 13010520 rs8012 A G 5652.31 PASS AC=2;AF=1.00;AN=2;DP=215;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.6415;MQ=51.94;MQ0=0;QD=26.29;SB=-3852.97;TI=NM_000159,NM_013976,NM_001105578;GI=GCDH,GCDH,SYCE2;FC=Silent,Missense_Q417R,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,215:215:99:5652,406,0:1.000:99 chr19 13010643 rs9384 G T 2343.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.222;DP=217;Dels=0.00;FS=1.071;HRun=1;HaplotypeScore=12.5131;MQ=50.05;MQ0=0;MQRankSum=1.575;QD=10.80;ReadPosRankSum=1.279;SB=-1375.48;TI=NM_000159,NM_013976,NM_001105578;GI=GCDH,GCDH,SYCE2;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:114,103:217:99:2373,0,2445:0.475:99 chr19 17936532 . A G 64.62 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.637;DP=16;Dels=0.00;FS=14.150;HRun=0;HaplotypeScore=0.9832;MQ=47.82;MQ0=0;MQRankSum=-2.607;QD=4.04;ReadPosRankSum=-2.971;SB=-0.01;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,4:16:94.62:95,0,323:0.250:64 chr19 17936535 . C T 32.32 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.273;DP=16;Dels=0.00;FS=11.139;HRun=0;HaplotypeScore=1.9497;MQ=47.82;MQ0=0;MQRankSum=-2.365;QD=2.02;ReadPosRankSum=-2.971;SB=-0.01;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,4:16:62.31:62,0,320:0.250:32 chr19 17936543 . T A 64.62 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.303;DP=16;Dels=0.00;FS=14.150;HRun=1;HaplotypeScore=2.9162;MQ=47.82;MQ0=0;MQRankSum=-2.729;QD=4.04;ReadPosRankSum=-2.971;SB=-0.01;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,4:16:94.62:95,0,323:0.250:64 chr19 17936552 . T A 60.82 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.667;DP=16;Dels=0.00;FS=14.150;HRun=5;HaplotypeScore=1.9330;MQ=47.82;MQ0=0;MQRankSum=-2.850;QD=3.80;ReadPosRankSum=-2.971;SB=-0.01;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,4:16:90.81:91,0,316:0.250:60 chr19 17936554 . C A 64.62 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.395;DP=16;Dels=0.00;FS=14.150;HRun=6;HaplotypeScore=1.9330;MQ=47.82;MQ0=0;MQRankSum=-2.243;QD=4.04;ReadPosRankSum=-2.971;SB=-0.01;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,4:16:94.62:95,0,322:0.250:64 chr19 17936600 . C T 57.87 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-2.122;DP=16;Dels=0.00;FS=6.368;HRun=2;HaplotypeScore=6.5574;MQ=45.26;MQ0=0;MQRankSum=-2.486;QD=3.62;ReadPosRankSum=-0.788;SB=-0.01;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:12,4:16:87.87:88,0,303:0.250:57 chr19 17936603 . G A 56.88 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.240;DP=16;Dels=0.00;FS=6.368;HRun=0;HaplotypeScore=6.3160;MQ=45.26;MQ0=0;MQRankSum=-1.632;QD=3.56;ReadPosRankSum=-1.110;SB=-0.01;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:11,4:16:86.88:87,0,298:0.267:56 chr19 17936709 . CAA C 523.55 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-2.332;DP=69;FS=2.854;HRun=21;HaplotypeScore=310.1857;MQ=34.11;MQ0=0;MQRankSum=2.248;QD=7.59;ReadPosRankSum=0.343;SB=-221.19;TI=NM_000215;GI=JAK3;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:33,11:69:99:563,0,285:0.250:99 chr19 17936867 . T C 12.71 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.763;DP=30;Dels=0.00;FS=4.601;HRun=2;HaplotypeScore=29.5384;MQ=47.67;MQ0=0;MQRankSum=0.092;QD=0.42;ReadPosRankSum=0.946;SB=-0.01;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,4:30:42.46:42,0,667:0.133:12 chr19 17936886 . T A 72.21 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.274;DP=27;Dels=0.04;FS=7.520;HRun=2;HaplotypeScore=14.2585;MQ=48.51;MQ0=0;MQRankSum=-2.952;QD=2.67;ReadPosRankSum=-2.404;SB=-0.01;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:20,6:26:99:102,0,523:0.231:72 chr19 17937429 rs3008 A G 4885.18 PASS AC=2;AF=1.00;AN=2;DP=193;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1915;MQ=47.93;MQ0=0;QD=25.31;SB=-3672.80;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,193:193:99:4885,343,0:1.000:99 chr19 17958777 rs7254346 T C 4480.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.379;DP=451;Dels=0.00;FS=3.572;HRun=1;HaplotypeScore=29.2336;MQ=51.51;MQ0=0;MQRankSum=1.135;QD=9.93;ReadPosRankSum=-1.245;SB=-3104.38;TI=NM_000215;GI=JAK3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:252,198:451:99:4480,0,5564:0.440:99 chr19 18181569 rs845380 A G 2758.18 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.983;DP=243;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=24.7583;MQ=49.89;MQ0=0;MQRankSum=-2.534;QD=11.35;ReadPosRankSum=-1.625;SB=-1960.17;TI=NM_005535,NM_153701;GI=IL12RB1,IL12RB1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:114,128:243:99:2788,0,2496:0.529:99 chr19 18191780 . C T 2996.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.346;DP=290;Dels=0.00;FS=3.208;HRun=0;HaplotypeScore=8.9814;MQ=50.73;MQ0=0;MQRankSum=-3.005;QD=10.33;ReadPosRankSum=-1.101;SB=-2197.56;TI=NM_005535,NM_153701;GI=IL12RB1,IL12RB1;FC=Missense_A91T,Missense_A91T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:150,140:290:99:3027,0,3488:0.483:99 chr19 36342212 rs3814995 C T 8005.42 PASS AC=2;AF=1.00;AN=2;DP=305;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=19.5503;MQ=49.90;MQ0=0;QD=26.25;SB=-5044.43;TI=NM_004646;GI=NPHS1;FC=Missense_E117K;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,303:305:99:8005,575,0:1.000:99 chr19 39994711 rs1110627 T C 8991.02 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.429;DP=356;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.1917;MQ=49.70;MQ0=0;MQRankSum=-0.029;QD=25.26;ReadPosRankSum=0.049;SB=-6771.24;TI=NM_203486,NM_016941;GI=DLL3,DLL3;FC=Unknown_218,Unknown_218;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,353:356:99:8991,597,0:0.997:99 chr19 40900865 rs268674 C T 5360.48 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.012;DP=213;Dels=0.00;FS=3.094;HRun=0;HaplotypeScore=16.4823;MQ=48.01;MQ0=0;MQRankSum=0.986;QD=25.17;ReadPosRankSum=0.271;SB=-3991.28;TI=NM_181882,NM_020956;GI=PRX,PRX;FC=Missense_G1132R,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,211:213:99:5360,349,0:0.991:99 chr19 45868309 rs238406 T G 2233.28 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.611;DP=205;Dels=0.00;FS=1.107;HRun=0;HaplotypeScore=11.3076;MQ=50.04;MQ0=0;MQRankSum=1.395;QD=10.89;ReadPosRankSum=0.069;SB=-1319.74;TI=NM_000400,NM_001130867;GI=ERCC2,ERCC2;FC=Synonymous_R156R,Synonymous_R132R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:102,103:205:99:2263,0,2276:0.502:99 chr19 46031606 rs7259834 T C 10148.04 PASS AC=2;AF=1.00;AN=2;DP=401;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=28.6449;MQ=49.29;MQ0=0;QD=25.31;SB=-7363.28;TI=NM_001017989;GI=OPA3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,398:401:99:10148,722,0:1.000:99 chr19 46050760 rs11083772 T C 4019.74 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.350;DP=123;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.8747;MQ=55.35;MQ0=0;MQRankSum=2.110;QD=32.68;ReadPosRankSum=2.010;SB=-1192.63;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,121:123:99:4020,301,0:0.984:99 chr19 46051915 rs4803833 T A 863.20 LowGQ AC=1;AF=0.50;AN=2;BaseQRankSum=1.631;DP=42;Dels=0.00;FS=4.627;HRun=0;HaplotypeScore=84.9609;MQ=51.38;MQ0=0;MQRankSum=-0.194;QD=20.55;ReadPosRankSum=-0.311;SB=-411.11;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,37:42:24.72:893,0,25:0.881:24 chr19 46051919 . ATTT A 1512.50 R8 AC=2;AF=1.00;AN=2;DP=40;FS=0.000;HRun=14;HaplotypeScore=221.8295;MQ=49.67;MQ0=0;QD=37.81;SB=-722.12;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:12,27:40:99:1555,110,0:0.692:99 chr19 46052048 . C CTTATTTAT,CTTAT 7517.84 PASS AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=0.286;DP=167;FS=3.330;HaplotypeScore=164.1413;MQ=53.67;MQ0=0;MQRankSum=-0.286;QD=45.02;ReadPosRankSum=0.996;SB=-3401.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:42,6,110:167:99:7518,6264,6361,661,0,339:0.734:99 chr19 46052454 rs4802261 A G 715.07 PASS AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=48.75;MQ0=0;QD=23.07;SB=-592.84;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,31:31:51.17:748,51,0:1.000:51 chr19 46052620 rs71704464 TCAGGG T 2729.79 PASS AC=2;AF=1.00;AN=2;DP=41;FS=0.000;HRun=0;HaplotypeScore=18.6918;MQ=53.28;MQ0=0;QD=66.58;SB=-1243.27;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,38:41:99:2772,114,0:0.927:99 chr19 46052898 rs62109650 C T 723.59 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.480;DP=81;Dels=0.00;FS=3.046;HRun=0;HaplotypeScore=8.2396;MQ=47.81;MQ0=0;MQRankSum=0.675;QD=8.93;ReadPosRankSum=1.592;SB=-523.71;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:43,37:81:99:754,0,926:0.463:99 chr19 46053385 rs3760844 C T 159.79 LowGQ;SB;LowDP AC=2;AF=1.00;AN=2;DP=6;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=52.61;MQ0=0;QD=26.63;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,6:6:15.05:193,15,0:1.000:15 chr19 46053655 rs78205570 G GGCT 5974.71 PASS AC=2;AF=1.00;AN=2;DP=106;FS=0.000;HRun=0;HaplotypeScore=162.9330;MQ=54.98;MQ0=0;QD=56.37;SB=-2613.33;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,102:106:99:5975,316,0:0.981:99 chr19 46054422 . A C 23.70 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.531;DP=12;Dels=0.00;FS=3.010;HRun=0;HaplotypeScore=2.6823;MQ=51.33;MQ0=0;MQRankSum=-2.262;QD=1.98;ReadPosRankSum=-0.566;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,3:12:53.68:54,0,250:0.273:23 chr19 46054427 . G A 28.48 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.296;DP=10;Dels=0.00;FS=3.522;HRun=0;HaplotypeScore=13.4795;MQ=52.13;MQ0=0;MQRankSum=-2.166;QD=2.85;ReadPosRankSum=-1.580;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,3:10:58.46:58,0,249:0.300:28 chr19 46054428 . C T 25.64 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.386;DP=10;Dels=0.00;FS=3.522;HRun=0;HaplotypeScore=12.5854;MQ=52.13;MQ0=0;MQRankSum=-2.166;QD=2.56;ReadPosRankSum=-1.580;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,3:10:55.62:56,0,248:0.300:25 chr19 46054822 rs4404183 C T 6386.32 PASS AC=2;AF=1.00;AN=2;DP=241;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=14.8003;MQ=49.61;MQ0=0;QD=26.50;SB=-4390.56;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,241:241:99:6386,454,0:1.000:99 chr19 46055477 rs80059629 G GT 292.22 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.886;DP=40;FS=2.835;HRun=7;HaplotypeScore=59.8431;MQ=52.06;MQ0=0;MQRankSum=1.007;QD=7.31;ReadPosRankSum=0.581;SB=-157.64;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,12:40:99:331,0,756:0.308:99 chr19 46055785 . ATT A,AT 1816.62 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-1.159;DP=101;FS=1.553;HaplotypeScore=296.4577;MQ=42.78;MQ0=0;MQRankSum=0.428;QD=17.99;ReadPosRankSum=0.524;SB=-795.32;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:22,21,0:100:99:1895,1061,1172,492,0,360:0.488:99 chr19 46055946 . G T 32.74 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.807;DP=115;Dels=0.00;FS=23.822;HRun=4;HaplotypeScore=9.8569;MQ=46.94;MQ0=0;MQRankSum=-4.473;QD=0.28;ReadPosRankSum=-4.858;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:106,9:115:62.73:63,0,2462:0.078:32 chr19 46055952 . A G 84.65 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.023;DP=117;Dels=0.00;FS=27.927;HRun=0;HaplotypeScore=9.0177;MQ=46.95;MQ0=0;MQRankSum=-5.029;QD=0.72;ReadPosRankSum=-4.861;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:106,11:117:99:115,0,2410:0.094:84 chr19 46055957 . G A 109.23 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.695;DP=116;Dels=0.00;FS=29.448;HRun=0;HaplotypeScore=10.7510;MQ=46.82;MQ0=0;MQRankSum=-4.947;QD=0.94;ReadPosRankSum=-4.683;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:105,11:116:99:139,0,2426:0.095:99 chr19 46055958 . G C 59.12 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-3.270;DP=116;Dels=0.00;FS=27.152;HRun=0;HaplotypeScore=10.7510;MQ=46.82;MQ0=0;MQRankSum=-5.060;QD=0.51;ReadPosRankSum=-4.674;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:105,11:116:89.11:89,0,2525:0.095:59 chr19 46055959 . T A 27.16 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.990;DP=115;Dels=0.00;FS=24.516;HRun=0;HaplotypeScore=9.8569;MQ=46.94;MQ0=0;MQRankSum=-4.883;QD=0.24;ReadPosRankSum=-4.503;SB=-0.01;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:104,10:115:57.14:57,0,2451:0.088:27 chr19 46056134 . A T 321.83 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.080;DP=49;Dels=0.00;FS=1.253;HRun=1;HaplotypeScore=16.7372;MQ=54.15;MQ0=0;MQRankSum=0.468;QD=6.57;ReadPosRankSum=-0.833;SB=-162.67;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,15:49:99:352,0,772:0.319:99 chr19 46056620 rs3826861 C T 6051.44 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.453;DP=239;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0401;MQ=48.14;MQ0=0;MQRankSum=0.971;QD=25.32;ReadPosRankSum=1.669;SB=-4576.31;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,237:239:99:6051,392,0:0.992:99 chr19 46057081 rs3826860 A G 4727.38 PASS AC=2;AF=1.00;AN=2;DP=196;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.3882;MQ=50.55;MQ0=0;QD=24.12;SB=-3676.63;TI=NM_001017989,NM_025136;GI=OPA3,OPA3;FC=Silent,Synonymous_A77A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,194:196:99:4727,328,0:1.000:99 chr19 50410416 rs45577034 A C 993.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.063;DP=111;Dels=0.00;FS=0.736;HRun=1;HaplotypeScore=3.6689;MQ=51.83;MQ0=0;MQRankSum=-0.464;QD=8.95;ReadPosRankSum=-1.757;SB=-581.23;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 0/1:65,46:111:99:1023,0,1445:0.414:99 chr19 50410550 rs8429 G A 24.39 LowVariantFreq;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.118;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7714;MQ=56.52;MQ0=0;MQRankSum=-0.354;QD=2.22;ReadPosRankSum=-1.061;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 0/1:9,2:11:54.36:54,0,231:0.182:24 chr19 50410667 . T C 43.23 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.248;DP=9;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=45.47;MQ0=0;MQRankSum=-1.422;QD=4.80;ReadPosRankSum=-2.054;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 0/1:6,3:9:73.22:73,0,202:0.333:43 chr19 50410671 . T G 43.23 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.248;DP=9;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=45.47;MQ0=0;MQRankSum=-1.422;QD=4.80;ReadPosRankSum=-2.054;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 0/1:6,3:9:73.22:73,0,202:0.333:43 chr19 50410674 . A G 43.23 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.248;DP=9;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=45.47;MQ0=0;MQRankSum=-1.422;QD=4.80;ReadPosRankSum=-2.054;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 0/1:6,3:9:73.22:73,0,200:0.333:43 chr19 50410675 . A T 35.49 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.573;DP=9;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=45.47;MQ0=0;MQRankSum=-1.422;QD=3.94;ReadPosRankSum=-2.054;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 0/1:6,3:9:65.48:65,0,202:0.333:35 chr19 50410794 . CTTT C 442.50 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.739;DP=36;FS=0.000;HRun=21;HaplotypeScore=116.4941;MQ=39.26;MQ0=0;MQRankSum=-1.758;QD=12.29;ReadPosRankSum=-0.637;SB=-201.06;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 0/1:15,8:36:99:480,0,121:0.348:99 chr19 50410965 . G T 113.11 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DP=8;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=39.12;MQ0=0;MQRankSum=-1.920;QD=14.14;ReadPosRankSum=-1.920;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 0/1:3,5:8:90.66:143,0,91:0.625:90 chr19 50410967 . A T 109.30 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DP=8;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=39.12;MQ0=0;MQRankSum=-1.920;QD=13.66;ReadPosRankSum=-1.920;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 0/1:3,5:8:90.02:139,0,90:0.625:90 chr19 50410973 . A T 113.11 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=1.221;DP=8;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=39.12;MQ0=0;MQRankSum=-1.920;QD=14.14;ReadPosRankSum=-1.920;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 0/1:3,5:8:89.38:143,0,89:0.625:89 chr19 50410974 . G T 113.11 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DP=8;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=39.12;MQ0=0;MQRankSum=-1.920;QD=14.14;ReadPosRankSum=-1.920;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 0/1:3,5:8:90.02:143,0,90:0.625:90 chr19 50410976 . A T 111.22 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.322;DP=8;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=39.12;MQ0=0;MQRankSum=-1.517;QD=13.90;ReadPosRankSum=-0.956;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 0/1:3,5:8:89.38:141,0,89:0.625:89 chr19 50410982 . G A 79.67 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.421;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=43.31;MQ0=0;MQRankSum=-2.017;QD=9.96;ReadPosRankSum=0.922;SB=-0.01;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,4:8:99:110,0,124:0.500:79 chr19 50410984 . G A 79.67 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.421;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=43.31;MQ0=0;MQRankSum=-0.922;QD=9.96;ReadPosRankSum=0.922;SB=-0.01;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,4:8:99:110,0,131:0.500:79 chr19 50410987 . T C 79.67 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.000;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=43.31;MQ0=0;MQRankSum=-2.017;QD=9.96;ReadPosRankSum=0.922;SB=-0.01;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:4,4:8:99:110,0,128:0.500:79 chr19 50410999 . G C 82.68 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.550;DP=7;Dels=0.00;FS=3.680;HRun=2;HaplotypeScore=0.0000;MQ=40.36;MQ0=0;MQRankSum=-1.754;QD=11.81;ReadPosRankSum=-0.550;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 0/1:3,4:7:90.82:113,0,91:0.571:82 chr19 50411001 . C T 82.68 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.550;DP=7;Dels=0.00;FS=3.680;HRun=0;HaplotypeScore=0.0000;MQ=40.36;MQ0=0;MQRankSum=-0.550;QD=11.81;ReadPosRankSum=-0.550;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 0/1:3,4:7:90.82:113,0,91:0.571:82 chr19 50411132 rs9523 T C 355.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.113;DP=39;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.6548;MQ=53.98;MQ0=0;MQRankSum=1.535;QD=9.12;ReadPosRankSum=0.408;SB=-232.27;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 0/1:21,18:39:99:386,0,477:0.462:99 chr19 50411742 rs892028 A G 3991.78 PASS AC=2;AF=1.00;AN=2;DP=152;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.9257;MQ=49.00;MQ0=0;QD=26.26;SB=-2801.99;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 1/1:0,152:152:99:3992,286,0:1.000:99 chr19 50412217 rs79747934 C G 3360.95 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.111;DP=286;Dels=0.00;FS=1.434;HRun=1;HaplotypeScore=22.6481;MQ=48.77;MQ0=0;MQRankSum=-0.943;QD=11.75;ReadPosRankSum=-1.789;SB=-2531.04;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 0/1:132,154:286:99:3361,0,2846:0.538:99 chr19 50412309 rs1290749 C G 1211.53 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.826;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3198;MQ=53.93;MQ0=0;MQRankSum=2.381;QD=11.76;ReadPosRankSum=1.866;SB=-601.31;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62;FC=Silent,Synonymous_G252G,Synonymous_G252G,Synonymous_G252G,Synonymous_G252G,Synonymous_G252G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:54,49:103:99:1242,0,1427:0.476:99 chr19 50412417 rs999583 G A 5793.16 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.416;DP=241;Dels=0.00;FS=15.303;HRun=0;HaplotypeScore=13.0285;MQ=43.61;MQ0=0;MQRankSum=4.650;QD=24.04;ReadPosRankSum=3.654;SB=-4322.66;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 1/1:8,233:241:99:5793,249,0:0.967:99 chr19 50412650 rs3745489 C T 2330.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.381;DP=228;Dels=0.00;FS=1.623;HRun=0;HaplotypeScore=7.1932;MQ=46.62;MQ0=0;MQRankSum=-1.024;QD=10.22;ReadPosRankSum=3.127;SB=-1682.34;TI=NM_172374,NM_012346,NM_153718,NM_153719,NM_001193357,NM_016553;GI=IL4I1,NUP62,NUP62,NUP62,NUP62,NUP62;FC=Silent,Missense_G139S,Missense_G139S,Missense_G139S,Missense_G139S,Missense_G139S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:118,110:228:99:2360,0,2509:0.482:99 chr20 3209012 rs58757394 C T 4432.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.171;DP=429;Dels=0.00;FS=1.134;HRun=0;HaplotypeScore=14.2506;MQ=47.64;MQ0=1;MQRankSum=-1.370;QD=10.33;ReadPosRankSum=0.233;SB=-3193.82;TI=NM_032034,NM_001174090,NM_001174089;GI=SLC4A11,SLC4A11,SLC4A11;FC=Synonymous_T833T,Synonymous_T860T,Synonymous_T817T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:223,206:429:99:4433,0,4781:0.480:99 chr20 3214819 rs3827075 T G 9408.65 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.696;DP=382;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=22.1728;MQ=48.46;MQ0=0;MQRankSum=1.705;QD=24.63;ReadPosRankSum=-1.023;SB=-7269.51;TI=NM_032034,NM_001174090,NM_001174089;GI=SLC4A11,SLC4A11,SLC4A11;FC=Synonymous_R161R,Synonymous_R188R,Synonymous_R145R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,380:381:99:9409,656,0:0.997:99 chr20 3218355 rs3827076 C G 6864.99 PASS AC=2;AF=1.00;AN=2;DP=250;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.2296;MQ=49.85;MQ0=0;QD=27.46;SB=-3818.31;TI=NM_032034,NM_001174090,NM_001174089;GI=SLC4A11,SLC4A11,SLC4A11;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,249:250:99:6865,497,0:1.000:99 chr20 3218634 rs3810562 G C 10537.38 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.664;DP=410;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=25.0982;MQ=50.94;MQ0=0;MQRankSum=0.189;QD=25.70;ReadPosRankSum=2.309;SB=-7728.47;TI=NM_001174090,NM_001174089;GI=SLC4A11,SLC4A11;FC=Missense_P26R,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:4,406:410:99:10537,675,0:0.990:99 chr20 3870079 rs71647828 T A 1132.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-1.248;DP=98;Dels=0.00;FS=2.775;HRun=0;HaplotypeScore=11.6971;MQ=52.59;MQ0=0;MQRankSum=-0.335;QD=11.56;ReadPosRankSum=-0.399;SB=-631.98;TI=NM_024960,NM_153638;GI=PANK2,PANK2;FC=Silent,Missense_L111Q;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:45,53:98:99:1163,0,1095:0.541:99 chr20 3870124 rs3737084 G C 1286.63 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.578;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4332;MQ=52.53;MQ0=0;MQRankSum=1.655;QD=28.59;ReadPosRankSum=0.962;SB=-404.91;TI=NM_024960,NM_153638;GI=PANK2,PANK2;FC=Silent,Missense_G126A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,44:45:99:1320,99,0:0.978:99 chr20 31386347 rs6058891 T C 5404.22 PASS AC=2;AF=1.00;AN=2;DP=215;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=21.7024;MQ=48.84;MQ0=0;QD=25.14;SB=-3714.04;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 1/1:0,214:215:99:5404,382,0:1.000:99 chr20 31386449 rs2424922 T C 5273.60 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.194;DP=221;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.9802;MQ=47.76;MQ0=0;MQRankSum=1.405;QD=23.86;ReadPosRankSum=1.516;SB=-4061.14;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 1/1:2,219:221:99:5274,328,0:0.991:99 chr20 31395997 . CT C 335.01 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.742;DP=80;FS=6.483;HRun=11;HaplotypeScore=299.2529;MQ=51.38;MQ0=0;MQRankSum=0.349;QD=4.19;ReadPosRankSum=-2.086;SB=-164.86;TI=NM_175849,NM_006892,NM_175848,NM_175850;GI=DNMT3B,DNMT3B,DNMT3B,DNMT3B;FC=Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:53,20:80:99:374,0,1229:0.274:99 chr20 31396536 rs2424932 A G 4717.43 PASS AC=2;AF=1.00;AN=2;DP=174;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.0466;MQ=50.32;MQ0=0;QD=27.11;SB=-3112.11;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 1/1:0,174:174:99:4717,337,0:1.000:99 chr20 31397019 rs73622008 AT A 6327.30 PASS AC=2;AF=1.00;AN=2;DP=194;FS=0.000;HRun=8;HaplotypeScore=326.5356;MQ=59.03;MQ0=0;QD=32.61;SB=-2491.64;TI=NM_175849,NM_006892,NM_175848,NM_175850;GI=DNMT3B,DNMT3B,DNMT3B,DNMT3B;FC=Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:7,183:194:99:6327,573,0:0.963:99 chr20 43252915 rs244076 T C 4381.18 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.135;DP=367;Dels=0.00;FS=0.382;HRun=1;HaplotypeScore=13.8848;MQ=47.61;MQ0=0;MQRankSum=0.078;QD=11.94;ReadPosRankSum=-1.451;SB=-3262.43;TI=NM_000022;GI=ADA;FC=Synonymous_V178V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:167,198:367:99:4381,0,3507:0.542:99 chr20 43264927 rs394105 C T 8534.20 PASS AC=2;AF=1.00;AN=2;DP=344;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.1412;MQ=47.80;MQ0=0;QD=24.81;SB=-6341.15;TI=NM_000022;GI=ADA;FC=Synonymous_V12V;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,342:344:99:8534,599,0:1.000:99 chr20 43280227 rs73598374 C T 1476.89 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.281;DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.0786;MQ=44.81;MQ0=0;MQRankSum=-1.424;QD=10.55;ReadPosRankSum=2.625;SB=-992.25;TI=NM_000022;GI=ADA;FC=Missense_D8N;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:68,72:140:99:1507,0,1443:0.514:99 chr20 49551726 . T C 5945.17 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.462;DP=628;Dels=0.00;FS=11.345;HRun=3;HaplotypeScore=57.8522;MQ=51.53;MQ0=0;MQRankSum=3.059;QD=9.47;ReadPosRankSum=-0.101;SB=-2657.85;TI=NM_003859;GI=DPM1;FC=Synonymous_G242G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:368,259:628:99:5945,0,8653:0.413:99 chr21 34775413 . A G 218.14 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-3.898;DP=157;Dels=0.00;FS=63.772;HRun=4;HaplotypeScore=144.8583;MQ=34.27;MQ0=0;MQRankSum=-5.403;QD=1.39;ReadPosRankSum=2.218;SB=-0.01;TI=NM_005534;GI=IFNGR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:126,29:157:99:248,0,2986:0.187:99 chr21 34775418 . T G 202.89 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-3.219;DP=106;Dels=0.00;FS=82.747;HRun=5;HaplotypeScore=163.4536;MQ=33.61;MQ0=0;MQRankSum=-1.443;QD=1.91;ReadPosRankSum=-1.587;SB=-0.01;TI=NM_005534;GI=IFNGR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:77,22:106:99:233,0,1748:0.222:99 chr21 34775434 rs8134145 A C 770.44 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.254;DP=100;Dels=0.00;FS=10.304;HRun=0;HaplotypeScore=76.6357;MQ=35.84;MQ0=0;MQRankSum=-1.607;QD=7.70;ReadPosRankSum=-0.415;SB=-423.35;TI=NM_005534;GI=IFNGR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:52,44:100:99:800,0,1141:0.458:99 chr21 34775444 rs8126756 T C 888.41 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.153;DP=97;Dels=0.00;FS=16.017;HRun=1;HaplotypeScore=40.3998;MQ=36.26;MQ0=0;MQRankSum=-1.319;QD=9.16;ReadPosRankSum=1.011;SB=-339.62;TI=NM_005534;GI=IFNGR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:54,41:97:99:918,0,1187:0.432:99 chr21 34775676 . C G 25.74 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.289;DP=12;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=9.3637;MQ=30.45;MQ0=0;MQRankSum=-0.825;QD=2.15;ReadPosRankSum=1.835;SB=-0.01;TI=NM_005534;GI=IFNGR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,4:12:55.73:56,0,175:0.333:25 chr21 34775678 . C G 21.86 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.517;DP=8;Dels=0.00;FS=3.310;HRun=3;HaplotypeScore=5.4340;MQ=31.14;MQ0=0;MQRankSum=-1.517;QD=2.73;ReadPosRankSum=1.221;SB=-0.01;TI=NM_005534;GI=IFNGR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,3:8:51.82:52,0,103:0.375:21 chr21 34775682 . C G 43.52 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.988;DP=6;Dels=0.00;FS=3.979;HRun=3;HaplotypeScore=0.0000;MQ=31.83;MQ0=0;MQRankSum=-1.537;QD=7.25;ReadPosRankSum=-1.537;SB=-0.00;TI=NM_005534;GI=IFNGR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,3:6:69.76:74,0,70:0.500:43 chr21 34787312 rs9808753 A G 5656.67 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.154;DP=545;Dels=0.00;FS=1.765;HRun=0;HaplotypeScore=23.7072;MQ=44.14;MQ0=0;MQRankSum=-0.426;QD=10.38;ReadPosRankSum=-2.453;SB=-4232.25;TI=NM_005534;GI=IFNGR2;FC=Missense_Q64R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:274,271:545:99:5657,0,5830:0.497:99 chr21 34809433 . CT C 433.85 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.690;DP=293;FS=3.155;HRun=13;HaplotypeScore=732.1424;MQ=53.88;MQ0=0;MQRankSum=1.531;QD=1.48;ReadPosRankSum=-0.743;SB=-179.52;TI=NM_005534;GI=IFNGR2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:210,38:293:99:473,0,4215:0.153:99 chr21 34809693 rs1059293 C T 5019.12 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.391;DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=25.2104;MQ=54.52;MQ0=0;MQRankSum=2.333;QD=29.35;ReadPosRankSum=-0.632;SB=-3130.77;TI=NM_005534;GI=IFNGR2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,167:171:99:5019,370,0:0.988:99 chr21 38123320 . CA C 10.56 LowVariantFreq;R8;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.807;DP=115;FS=5.637;HRun=11;HaplotypeScore=289.1961;MQ=55.03;MQ0=0;MQRankSum=1.072;QD=0.09;ReadPosRankSum=1.052;SB=-0.39;TI=NM_000411;GI=HLCS;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:85,12:115:48.77:49,0,2147:0.124:10 chr21 38362470 . A G 2167.61 PASS AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=36.89;MQ0=0;QD=22.82;SB=-1579.53;TI=NM_000411;GI=HLCS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,95:95:99:2201,162,0:1.000:99 chr21 38362498 . G A 1805.21 PASS AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=34.95;MQ0=0;QD=22.85;SB=-1324.38;TI=NM_000411;GI=HLCS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,79:79:99:1838,138,0:1.000:99 chr21 38362531 . T C 1017.62 PASS AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=32.64;MQ0=0;QD=23.13;SB=-681.88;TI=NM_000411;GI=HLCS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,44:44:84.14:1051,84,0:1.000:84 chr21 38362536 . T C 939.45 PASS AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=33.42;MQ0=0;QD=22.37;SB=-652.78;TI=NM_000411;GI=HLCS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,42:42:78.12:972,78,0:1.000:78 chr21 44473425 rs706209 G A 7918.31 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.292;DP=279;Dels=0.00;FS=3.326;HRun=0;HaplotypeScore=10.9519;MQ=51.28;MQ0=0;MQRankSum=0.217;QD=28.38;ReadPosRankSum=-1.409;SB=-4847.19;TI=NM_000071,NM_001178009,NM_001178008;GI=CBS,CBS,CBS;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,278:279:99:7918,549,0:0.996:99 chr21 44473446 rs706208 A G 6971.32 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.146;DP=239;Dels=0.00;FS=3.550;HRun=1;HaplotypeScore=14.3739;MQ=54.35;MQ0=0;MQRankSum=0.611;QD=29.17;ReadPosRankSum=-1.135;SB=-3944.43;TI=NM_000071,NM_001178009,NM_001178008;GI=CBS,CBS,CBS;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,237:238:99:6971,483,0:0.996:99 chr21 44480616 rs1801181 G A 8053.73 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.361;DP=334;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=20.7822;MQ=50.77;MQ0=0;MQRankSum=0.892;QD=24.11;ReadPosRankSum=-0.922;SB=-6223.34;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 1/1:2,332:334:99:8054,559,0:0.994:99 chr21 45705988 rs3746964 T C 3985.13 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.934;DP=354;Dels=0.00;FS=0.393;HRun=1;HaplotypeScore=10.7420;MQ=45.08;MQ0=0;MQRankSum=-0.498;QD=11.26;ReadPosRankSum=1.125;SB=-2661.23;TI=NM_000383;GI=AIRE;FC=Synonymous_A33A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:175,178:354:99:3985,0,3862:0.504:99 chr21 45709906 rs1800520 C G 2583.39 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.531;DP=267;Dels=0.00;FS=1.488;HRun=1;HaplotypeScore=13.3136;MQ=49.72;MQ0=0;MQRankSum=-0.745;QD=9.68;ReadPosRankSum=0.665;SB=-1893.26;TI=NM_000383;GI=AIRE;FC=Missense_S278R;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:147,120:267:99:2613,0,3244:0.449:99 chr21 45710410 rs941405 C G 4339.26 PASS AC=2;AF=1.00;AN=2;DP=166;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4018;MQ=49.49;MQ0=0;QD=26.14;SB=-3066.88;TI=NM_000383,NM_000658;GI=AIRE,AIRE;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,166:166:99:4339,313,0:1.000:99 chr21 45710528 rs2073610 G C 2215.40 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.136;DP=256;Dels=0.00;FS=0.971;HRun=0;HaplotypeScore=13.6357;MQ=46.94;MQ0=0;MQRankSum=-4.663;QD=8.65;ReadPosRankSum=0.070;SB=-1791.50;TI=NM_000383,NM_000658;GI=AIRE,AIRE;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:141,113:256:99:2245,0,2948:0.445:99 chr21 45710681 rs2073611 G A 64.86 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=2.054;DP=9;Dels=0.00;FS=4.771;HRun=2;HaplotypeScore=0.8941;MQ=57.39;MQ0=0;MQRankSum=0.573;QD=7.21;ReadPosRankSum=1.001;SB=-40.65;TI=NM_000383,NM_000658;GI=AIRE,AIRE;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,3:9:94.85:95,0,199:0.333:64 chr21 45712977 rs1800521 T C 3883.49 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.995;DP=381;Dels=0.00;FS=3.388;HRun=2;HaplotypeScore=8.0697;MQ=50.97;MQ0=0;MQRankSum=0.962;QD=10.19;ReadPosRankSum=0.864;SB=-2218.12;TI=NM_000383,NM_000658;GI=AIRE,AIRE;FC=Synonymous_A399A,Synonymous_A202A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:208,172:381:99:3883,0,4523:0.453:99 chr21 45717550 rs1133779 T C 2989.51 PASS AC=2;AF=1.00;AN=2;DP=121;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.8801;MQ=44.65;MQ0=0;QD=24.71;SB=-2270.82;TI=NM_000383,NM_000658;GI=AIRE,AIRE;FC=Synonymous_D526D,Synonymous_D329D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,120:121:99:3023,211,0:1.000:99 chr21 47411948 . G A 1015.35 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.733;DP=106;Dels=0.00;FS=5.013;HRun=0;HaplotypeScore=3.5489;MQ=46.01;MQ0=0;MQRankSum=1.075;QD=9.58;ReadPosRankSum=0.174;SB=-414.39;TI=NM_001848;GI=COL6A1;FC=Missense_A382T;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:63,43:106:99:1045,0,1297:0.406:99 chr21 47423509 rs13051496 C T 2540.38 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.032;DP=206;Dels=0.00;FS=2.502;HRun=1;HaplotypeScore=17.8940;MQ=50.89;MQ0=0;MQRankSum=0.398;QD=12.33;ReadPosRankSum=0.417;SB=-1611.95;TI=NM_001848;GI=COL6A1;FC=Missense_S890L;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:94,112:206:99:2570,0,2286:0.544:99 chr21 47538960 rs2839110 G A 6148.21 PASS AC=2;AF=1.00;AN=2;DP=251;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3705;MQ=48.06;MQ0=0;QD=24.49;SB=-4521.30;TI=NM_058174,NM_058175,NM_001849;GI=COL6A2,COL6A2,COL6A2;FC=Missense_S399N,Missense_S399N,Missense_S399N;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,251:251:99:6148,430,0:1.000:99 chr21 47545768 rs1042917 G A 4404.51 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.907;DP=378;Dels=0.00;FS=1.234;HRun=0;HaplotypeScore=23.1391;MQ=48.36;MQ0=0;MQRankSum=-1.475;QD=11.65;ReadPosRankSum=1.179;SB=-2656.05;TI=NM_058174,NM_058175,NM_001849;GI=COL6A2,COL6A2,COL6A2;FC=Missense_R680H,Missense_R680H,Missense_R680H;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:183,195:378:99:4405,0,4127:0.516:99 chr21 47545823 rs13052956 G A 4601.01 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.724;DP=381;Dels=0.00;FS=0.376;HRun=0;HaplotypeScore=25.2316;MQ=50.92;MQ0=0;MQRankSum=0.147;QD=12.08;ReadPosRankSum=-2.982;SB=-3111.31;TI=NM_058174,NM_058175,NM_001849;GI=COL6A2,COL6A2,COL6A2;FC=Synonymous_A698A,Synonymous_A698A,Synonymous_A698A;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:181,199:381:99:4601,0,3776:0.524:99 chr21 47545826 rs13046639 C T 4395.84 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.687;DP=380;Dels=0.00;FS=0.375;HRun=0;HaplotypeScore=21.4810;MQ=51.13;MQ0=0;MQRankSum=-0.359;QD=11.57;ReadPosRankSum=-1.742;SB=-2940.06;TI=NM_058174,NM_058175,NM_001849;GI=COL6A2,COL6A2,COL6A2;FC=Synonymous_G699G,Synonymous_G699G,Synonymous_G699G;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:186,192:380:99:4396,0,3952:0.508:99 chr21 47545913 rs2839114 G A 4222.11 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.825;DP=383;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=18.3721;MQ=50.98;MQ0=0;MQRankSum=1.025;QD=11.02;ReadPosRankSum=0.963;SB=-2931.33;TI=NM_058174,NM_058175,NM_001849;GI=COL6A2,COL6A2,COL6A2;FC=Synonymous_V728V,Synonymous_V728V,Synonymous_V728V;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:199,183:383:99:4222,0,4656:0.479:99 chr21 47551909 . G A 3368.91 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.662;DP=278;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=20.4501;MQ=48.28;MQ0=0;MQRankSum=1.380;QD=12.12;ReadPosRankSum=1.403;SB=-2025.93;TI=NM_001849;GI=COL6A2;FC=Missense_V835I;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:126,150:278:99:3369,0,2770:0.543:99 chr22 18571008 rs464385 G A 2018.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.373;DP=245;Dels=0.00;FS=1.003;HRun=0;HaplotypeScore=11.0959;MQ=46.34;MQ0=0;MQRankSum=1.201;QD=8.24;ReadPosRankSum=0.825;SB=-1466.40;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:142,103:245:99:2048,0,3165:0.420:99 chr22 18571670 rs362057 A G 3899.80 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.707;DP=139;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=8.2549;MQ=52.09;MQ0=0;MQRankSum=0.685;QD=28.06;ReadPosRankSum=0.262;SB=-1991.08;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,138:139:99:3900,283,0:0.993:99 chr22 18571828 rs361807 T C 6097.06 PASS AC=2;AF=1.00;AN=2;DP=228;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.0256;MQ=52.52;MQ0=0;QD=26.74;SB=-4052.29;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,224:228:99:6097,436,0:1.000:99 chr22 18572106 rs456551 T A 1878.27 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.496;DP=166;Dels=0.00;FS=2.038;HRun=0;HaplotypeScore=32.4909;MQ=54.96;MQ0=0;MQRankSum=1.852;QD=11.31;ReadPosRankSum=-0.528;SB=-1058.16;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:93,71:166:99:1908,0,2379:0.433:99 chr22 18572371 rs5844350 C CTTGG 8055.33 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.732;DP=133;FS=3.495;HRun=0;HaplotypeScore=356.1372;MQ=46.50;MQ0=0;MQRankSum=1.169;QD=60.57;ReadPosRankSum=-1.535;SB=-3609.74;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:18,115:131:99:8055,361,0:0.865:99 chr22 18572476 rs361703 G C 2612.09 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.515;DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4702;MQ=45.07;MQ0=0;MQRankSum=-0.402;QD=13.26;ReadPosRankSum=1.070;SB=-1506.15;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:94,103:197:99:2642,0,2466:0.523:99 chr22 18572499 rs10629935 T TCTCA 11203.50 PASS AC=2;AF=1.00;AN=2;DP=176;FS=0.000;HRun=0;HaplotypeScore=640.7556;MQ=44.76;MQ0=0;QD=63.66;SB=-5199.11;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:39,134:174:99:11203,497,0:0.775:99 chr22 18572503 . T A 333.01 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=-4.465;DP=162;Dels=0.01;FS=1.786;HRun=0;HaplotypeScore=152.6815;MQ=45.28;MQ0=0;MQRankSum=-0.152;QD=2.06;ReadPosRankSum=-7.839;SB=-139.45;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:136,25:161:99:363,0,3975:0.155:99 chr22 18572504 . G C 325.67 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=-2.896;DP=162;Dels=0.01;FS=2.829;HRun=0;HaplotypeScore=150.7877;MQ=45.28;MQ0=0;MQRankSum=0.455;QD=2.01;ReadPosRankSum=-7.858;SB=-149.87;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:136,25:161:99:356,0,3983:0.155:99 chr22 18572892 rs361946 A G 5408.10 PASS AC=2;AF=1.00;AN=2;DP=186;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2586;MQ=52.97;MQ0=0;QD=29.08;SB=-3259.03;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,186:186:99:5408,394,0:1.000:99 chr22 18573122 rs362209 T C 4492.40 PASS AC=2;AF=1.00;AN=2;DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=50.39;MQ0=0;QD=27.23;SB=-2966.63;TI=NM_001199319,NM_017929,NM_001127649;GI=PEX26,PEX26,PEX26;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,165:165:99:4492,322,0:1.000:99 chr22 21213380 rs1061063 C T 4112.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.706;DP=377;Dels=0.00;FS=9.698;HRun=0;HaplotypeScore=30.4252;MQ=48.14;MQ0=0;MQRankSum=-0.402;QD=10.91;ReadPosRankSum=-0.616;SB=-1853.42;TI=NM_004782;GI=SNAP29;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:200,175:377:99:4112,0,4410:0.467:99 chr22 21213416 rs1061064 A G 6393.93 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.349;DP=595;Dels=0.00;FS=0.971;HRun=0;HaplotypeScore=20.0279;MQ=49.42;MQ0=0;MQRankSum=-1.215;QD=10.75;ReadPosRankSum=-1.961;SB=-3949.47;TI=NM_004782;GI=SNAP29;FC=Synonymous_K6K;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:301,294:595:99:6394,0,6348:0.494:99 chr22 21242544 rs178077 A G 1422.37 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.880;DP=161;Dels=0.00;FS=2.171;HRun=0;HaplotypeScore=7.3537;MQ=50.64;MQ0=0;MQRankSum=2.824;QD=8.83;ReadPosRankSum=1.141;SB=-546.15;TI=NM_004782;GI=SNAP29;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:100,61:161:99:1452,0,2475:0.379:99 chr22 21242635 . ACACACACACT A 3184.73 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.429;DP=167;FS=0.585;HRun=0;HaplotypeScore=182.6406;MQ=47.36;MQ0=0;MQRankSum=4.702;QD=19.07;ReadPosRankSum=0.264;SB=-1326.64;TI=NM_004782;GI=SNAP29;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:75,91:167:99:3224,0,2357:0.548:99 chr22 21243253 rs165801 T C 3483.99 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.289;DP=273;Dels=0.00;FS=2.256;HRun=0;HaplotypeScore=22.3904;MQ=55.88;MQ0=0;MQRankSum=0.406;QD=12.76;ReadPosRankSum=0.408;SB=-1355.11;TI=NM_004782;GI=SNAP29;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:143,130:273:99:3484,0,3890:0.476:99 chr22 21243643 rs165861 T C 3983.13 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.169;DP=444;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=13.6181;MQ=47.17;MQ0=0;MQRankSum=-0.801;QD=8.97;ReadPosRankSum=1.445;SB=-2962.18;TI=NM_004782;GI=SNAP29;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:253,191:444:99:3983,0,5424:0.430:99 chr22 21243687 rs11577 T G 2558.60 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.435;DP=252;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=18.1974;MQ=49.74;MQ0=0;MQRankSum=2.280;QD=10.15;ReadPosRankSum=-0.175;SB=-1782.53;TI=NM_004782;GI=SNAP29;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:137,115:252:99:2589,0,3237:0.456:99 chr22 21244385 rs165744 G T 2052.30 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.164;DP=185;Dels=0.00;FS=1.839;HRun=1;HaplotypeScore=5.5381;MQ=48.77;MQ0=0;MQRankSum=-1.024;QD=11.09;ReadPosRankSum=-0.458;SB=-1399.48;TI=NM_004782;GI=SNAP29;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:96,89:185:99:2082,0,2127:0.481:99 chr22 21244940 rs165739 A G 33.40 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.358;DP=5;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8914;MQ=55.21;MQ0=0;MQRankSum=1.231;QD=6.68;ReadPosRankSum=-0.358;SB=-0.01;TI=NM_004782;GI=SNAP29;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:3,2:5:63.39:63,0,97:0.400:33 chr22 21245101 . C T 22.11 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.727;DP=4;Dels=0.00;FS=4.771;HRun=0;HaplotypeScore=0.0000;MQ=39.12;MQ0=0;MQRankSum=-0.727;QD=5.53;ReadPosRankSum=0.727;SB=-1.25;TI=NM_004782;GI=SNAP29;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,3:4:31.62:52,0,32:0.750:22 chr22 21245112 . T C 27.86 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=41.96;MQ0=0;MQRankSum=-0.736;QD=9.29;ReadPosRankSum=0.736;SB=-1.26;TI=NM_004782;GI=SNAP29;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,2:3:31.62:58,0,32:0.667:27 chr22 21245116 . C T 21.22 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DP=3;Dels=0.00;FS=4.771;HRun=0;HaplotypeScore=2.6823;MQ=41.96;MQ0=0;MQRankSum=-0.736;QD=7.07;ReadPosRankSum=0.736;SB=-1.25;TI=NM_004782;GI=SNAP29;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,2:3:31.62:51,0,32:0.667:21 chr22 21245117 . A G 24.06 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DP=3;Dels=0.00;FS=4.771;HRun=0;HaplotypeScore=3.5764;MQ=41.96;MQ0=0;MQRankSum=-0.736;QD=8.02;ReadPosRankSum=0.736;SB=-1.26;TI=NM_004782;GI=SNAP29;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,2:3:31.62:54,0,32:0.667:24 chr22 34022284 rs86487 G A 9202.78 PASS AC=2;AF=1.00;AN=2;DP=359;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.8244;MQ=46.68;MQ0=0;QD=25.63;SB=-6450.29;TI=NM_133642,NM_004737;GI=LARGE,LARGE;FC=Synonymous_A145A,Synonymous_A145A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,359:359:99:9203,650,0:1.000:99 chr22 34157526 rs16992986 G A 4617.66 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.781;DP=394;Dels=0.00;FS=2.721;HRun=0;HaplotypeScore=21.8193;MQ=49.25;MQ0=0;MQRankSum=-1.406;QD=11.72;ReadPosRankSum=-0.327;SB=-2881.73;TI=NM_133642,NM_004737;GI=LARGE,LARGE;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:188,205:394:99:4618,0,4347:0.522:99 chr22 38507818 rs11570770 G T 30.24 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.922;DP=7;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9894;MQ=56.62;MQ0=0;MQRankSum=0.198;QD=4.32;ReadPosRankSum=0.198;SB=-0.01;TI=NM_003560,NM_001004426,NM_001199562;GI=PLA2G6,PLA2G6,PLA2G6;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:5,2:7:60.23:60,0,167:0.286:30 chr22 50498389 rs35730155 C A 3185.97 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.349;DP=304;Dels=0.00;FS=0.887;HRun=1;HaplotypeScore=16.6259;MQ=47.49;MQ0=0;MQRankSum=1.943;QD=10.48;ReadPosRankSum=1.284;SB=-2225.11;TI=NM_139202,NM_015166;GI=MLC1,MLC1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:153,151:304:99:3216,0,3241:0.497:99 chr22 50499239 rs4838880 C T 628.11 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.372;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6548;MQ=51.69;MQ0=0;MQRankSum=-1.218;QD=10.30;ReadPosRankSum=-0.416;SB=-333.42;TI=NM_139202,NM_015166;GI=MLC1,MLC1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,26:61:99:658,0,966:0.426:99 chr22 50499967 rs2072873 T C 847.34 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.771;DP=59;Dels=0.00;FS=2.435;HRun=1;HaplotypeScore=3.6106;MQ=57.92;MQ0=0;MQRankSum=-1.229;QD=14.36;ReadPosRankSum=1.061;SB=-295.42;TI=NM_139202,NM_015166;GI=MLC1,MLC1;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,33:59:99:877,0,558:0.559:99 chr22 50524250 rs11447701 G GC 2107.58 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=6.653;DP=161;FS=2.071;HRun=2;HaplotypeScore=320.1139;MQ=54.60;MQ0=0;MQRankSum=3.693;QD=13.09;ReadPosRankSum=0.722;SB=-816.28;TI=NM_015166;GI=MLC1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:95,63:161:99:2147,0,3039:0.399:99 chr22 50524285 rs4838883 C T 1736.04 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.788;DP=156;Dels=0.00;FS=2.079;HRun=0;HaplotypeScore=13.6630;MQ=53.29;MQ0=0;MQRankSum=4.040;QD=11.13;ReadPosRankSum=0.667;SB=-788.01;TI=NM_015166;GI=MLC1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:88,68:156:99:1766,0,2094:0.436:99 chr22 50962208 rs12148 T G 5415.53 PASS AC=2;AF=1.00;AN=2;DP=214;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.1677;MQ=49.41;MQ0=0;QD=25.31;SB=-4091.33;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 1/1:0,213:214:99:5416,379,0:1.000:99 chr22 50962782 rs140523 C G 4405.22 PASS AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.3237;MQ=48.29;MQ0=0;QD=24.89;SB=-3444.83;TI=NM_152299,NM_001185011,NM_001169111,NM_005138,NM_001169110,NM_001169109;GI=NCAPH2,NCAPH2,SCO2,SCO2,SCO2,SCO2;FC=Silent,Silent,Missense_R20P,Missense_R20P,Missense_R20P,Missense_R20P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,177:177:99:4405,307,0:1.000:99 chr22 50963965 rs131806 C G 12398.21 PASS AC=2;AF=1.00;AN=2;DP=484;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=17.8774;MQ=49.21;MQ0=0;QD=25.62;SB=-7924.91;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 1/1:0,484:484:99:12398,885,0:1.000:99 chr22 50964862 rs131804 G A 1911.47 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.199;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4043;MQ=45.06;MQ0=0;MQRankSum=-0.444;QD=24.20;ReadPosRankSum=1.332;SB=-1304.31;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 1/1:1,77:79:99:1944,141,0:0.987:99 chr22 51062051 rs6009939 G T 773.43 PASS AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52.60;MQ0=0;QD=29.75;SB=-489.34;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 1/1:0,26:26:60.19:806,60,0:1.000:60 chr22 51062326 rs131716 CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA C 3976.38 R8 AC=2;AF=1.00;AN=2;DP=22;FS=0.000;HRun=40;HaplotypeScore=28.8576;MQ=37.78;MQ0=0;QD=180.74;SB=-1742.45;TI=NM_001085428,NM_001085427,NM_000487,NM_001085426,NM_001085425;GI=ARSA,ARSA,ARSA,ARSA,ARSA;FC=Noncoding,Noncoding,Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,22:22:66.22:3976,66,0:1.000:66 chr22 51062654 rs5770805 T C 932.63 PASS AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=53.49;MQ0=0;QD=34.54;SB=-113.45;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 1/1:0,27:27:75.22:966,75,0:1.000:75 chr22 51062832 rs8142033 G A 3838.66 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.423;DP=425;Dels=0.00;FS=0.353;HRun=0;HaplotypeScore=14.0346;MQ=46.37;MQ0=0;MQRankSum=0.120;QD=9.03;ReadPosRankSum=0.791;SB=-3048.09;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 0/1:231,193:425:99:3839,0,4909:0.455:99 chr22 51062938 rs5770953 C T 2986.62 PASS AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=16.2066;MQ=52.09;MQ0=0;QD=29.00;SB=-1599.80;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 1/1:0,102:103:99:3020,223,0:1.000:99 chr22 51064039 rs743616 G C 4189.75 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.210;DP=465;Dels=0.00;FS=3.490;HRun=0;HaplotypeScore=33.5363;MQ=44.95;MQ0=0;MQRankSum=-0.314;QD=9.01;ReadPosRankSum=-2.326;SB=-2686.68;TI=NM_001085428,NM_001085427,NM_000487,NM_001085426,NM_001085425;GI=ARSA,ARSA,ARSA,ARSA,ARSA;FC=Missense_T307S,Missense_T393S,Missense_T393S,Missense_T393S,Missense_T393S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:261,202:465:99:4190,0,5623:0.436:99 chr22 51064416 rs2071421 T C 1130.66 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.837;DP=117;Dels=0.00;FS=0.748;HRun=0;HaplotypeScore=15.8782;MQ=54.56;MQ0=0;MQRankSum=1.532;QD=9.66;ReadPosRankSum=-2.799;SB=-457.06;TI=NM_001085428,NM_001085427,NM_000487,NM_001085426,NM_001085425;GI=ARSA,ARSA,ARSA,ARSA,ARSA;FC=Missense_N266S,Missense_N352S,Missense_N352S,Missense_N352S,Missense_N352S;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:70,47:117:99:1161,0,1776:0.402:99 chr22 51066552 rs6151406 C G 1605.98 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.314;DP=119;Dels=0.00;FS=1.598;HRun=2;HaplotypeScore=4.4939;MQ=52.69;MQ0=0;MQRankSum=0.003;QD=13.50;ReadPosRankSum=-1.271;SB=-644.82;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 0/1:55,64:119:99:1636,0,1358:0.538:99 chrX 2852951 rs11222;rs74787451 G A 1912.47 PASS AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4994;MQ=49.27;MQ0=0;QD=28.98;SB=-831.48;TI=NM_000047;GI=ARSE;FC=Synonymous_N564N;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,66:66:99:1945,147,0:1.000:99 chrX 2856155 rs35143646 C T 4727.53 PASS AC=2;AF=1.00;AN=2;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.7076;MQ=47.43;MQ0=2;QD=25.55;SB=-3108.62;TI=NM_000047;GI=ARSE;FC=Missense_G424S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,184:185:99:4728,340,0:1.000:99 chrX 5808861 rs1882260 G A 4053.45 PASS AC=2;AF=1.00;AN=2;DP=150;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7876;MQ=48.72;MQ0=0;QD=27.02;SB=-2908.70;TI=NM_020742,NM_181332;GI=NLGN4X,NLGN4X;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,150:150:99:4053,286,0:1.000:99 chrX 5810090 rs3810685 A G 1600.42 LowGQ;LowGQX AC=2;AF=1.00;AN=2;BaseQRankSum=1.453;DP=70;Dels=0.03;FS=0.000;HRun=0;HaplotypeScore=7.8649;MQ=53.17;MQ0=0;MQRankSum=0.323;QD=22.86;ReadPosRankSum=1.857;SB=-960.73;TI=NM_020742,NM_181332;GI=NLGN4X,NLGN4X;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:7,61:68:4.14:1631,4,0:0.897:4 chrX 5810574 rs3810686 C T 2111.78 PASS AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6689;MQ=56.62;MQ0=0;QD=28.16;SB=-1169.25;TI=NM_020742,NM_181332;GI=NLGN4X,NLGN4X;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,75:75:99:2145,157,0:1.000:99 chrX 10416147 . AT A 196.29 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.428;DP=66;FS=0.000;HRun=18;HaplotypeScore=190.9351;MQ=48.47;MQ0=0;MQRankSum=-0.638;QD=2.97;ReadPosRankSum=0.683;SB=-86.25;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 0/1:31,13:66:99:235,0,363:0.295:99 chrX 13752895 rs2285635 G T 2171.85 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.244;DP=78;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52.91;MQ0=0;MQRankSum=-1.510;QD=27.84;ReadPosRankSum=-0.222;SB=-1050.39;TI=NM_003611;GI=OFD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,77:78:99:2205,125,0:0.987:99 chrX 15844898 . TAA T,TA 1344.14 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-1.126;DP=94;FS=2.639;HaplotypeScore=346.8107;MQ=45.62;MQ0=0;MQRankSum=-1.446;QD=14.30;ReadPosRankSum=-0.572;SB=-681.35;TI=NM_003916;GI=AP1S2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:24,24,1:94:99:1422,582,864,399,0,400:0.510:99 chrX 15845009 . CTT C 288.31 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.699;DP=70;FS=2.252;HRun=15;HaplotypeScore=388.3426;MQ=42.16;MQ0=0;MQRankSum=0.197;QD=4.12;ReadPosRankSum=0.997;SB=-71.49;TI=NM_003916;GI=AP1S2;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:43,9:70:99:327,0,1028:0.173:99 chrX 17753436 rs5909331 A T 4780.40 PASS AC=2;AF=1.00;AN=2;DP=190;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=19.0134;MQ=45.46;MQ0=0;QD=25.16;SB=-3134.89;TI=NM_198270,NM_001136024;GI=NHS,NHS;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,190:190:99:4780,340,0:1.000:99 chrX 19375782 rs2229137 A C 4747.76 PASS AC=2;AF=1.00;AN=2;DP=189;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.1706;MQ=48.21;MQ0=0;QD=25.12;SB=-3468.38;TI=NM_000284,NM_001173455,NM_001173454,NM_001173456;GI=PDHA1,PDHA1,PDHA1,PDHA1;FC=Missense_M282L,Missense_M289L,Missense_M320L,Missense_M251L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,189:189:99:4748,334,0:1.000:99 chrX 20171734 . CT C 198.14 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-2.670;DP=79;FS=2.402;HRun=14;HaplotypeScore=212.3459;MQ=50.42;MQ0=1;MQRankSum=-0.422;QD=2.51;ReadPosRankSum=-1.150;SB=-108.68;TI=NM_004586;GI=RPS6KA3;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:52,17:78:99:237,0,973:0.246:99 chrX 21958768 rs35504508 A AG 763.80 LowDP AC=2;AF=1.00;AN=2;DP=19;FS=0.000;HRun=2;HaplotypeScore=20.7006;MQ=56.74;MQ0=0;QD=40.20;SB=-381.40;TI=NM_004595;GI=SMS;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,19:19:57.19:806,57,0:1.000:57 chrX 25022103 . CT C 230.47 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.686;DP=74;FS=0.909;HRun=16;HaplotypeScore=230.0401;MQ=49.70;MQ0=0;MQRankSum=-0.394;QD=3.11;ReadPosRankSum=0.476;SB=-79.73;TI=NM_139058;GI=ARX;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:41,20:74:99:270,0,700:0.328:99 chrX 25025540 . C A 11.01 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=1;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=11.01;SB=-0.01;TI=NM_139058;GI=ARX;FC=Missense_R379L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,1:1:3.01:41,3,0:1.000:3 chrX 28605876 rs5901895 GT G 4808.15 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-1.905;DP=237;FS=0.687;HRun=11;HaplotypeScore=421.0502;MQ=50.64;MQ0=0;MQRankSum=1.162;QD=20.29;ReadPosRankSum=0.004;SB=-2241.03;TI=NM_014271;GI=IL1RAPL1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:48,181:237:99:4808,0,223:0.790:99 chrX 28807442 rs6526806 G A 9569.49 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.786;DP=337;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=15.6043;MQ=53.45;MQ0=0;MQRankSum=1.496;QD=28.40;ReadPosRankSum=-0.766;SB=-6441.40;TI=NM_014271;GI=IL1RAPL1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,336:337:99:9569,655,0:0.997:99 chrX 31196549 . GTT G,GT 1541.24 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-1.112;DP=129;FS=2.553;HaplotypeScore=213.0027;MQ=51.68;MQ0=0;MQRankSum=-0.004;QD=11.95;ReadPosRankSum=1.631;SB=-411.89;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 1/2:33,19,2:128:99:1619,1006,1527,106,0,195:0.389:99 chrX 31496350 rs1800280 C T 5363.23 PASS AC=2;AF=1.00;AN=2;DP=218;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.8287;MQ=50.34;MQ0=0;QD=24.60;SB=-4194.31;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 1/1:0,217:218:99:5363,373,0:1.000:99 chrX 32380996 rs1801187 C T 4956.56 PASS AC=2;AF=1.00;AN=2;DP=198;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.8111;MQ=50.41;MQ0=0;QD=25.03;SB=-3698.30;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 1/1:0,197:198:99:4957,352,0:1.000:99 chrX 32503194 rs228406 T C 6437.71 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.160;DP=238;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=11.1288;MQ=51.42;MQ0=0;MQRankSum=-0.640;QD=27.05;ReadPosRankSum=-1.628;SB=-3688.43;TI=NM_004007,NM_004010,NM_004009,NM_004006,NM_000109;GI=DMD,DMD,DMD,DMD,DMD;FC=Missense_D759G,Missense_D759G,Missense_D878G,Missense_D882G,Missense_D874G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,234:238:99:6438,422,0:0.992:99 chrX 39932907 rs6520618 T C 706.57 PASS AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=4.5198;MQ=59.03;MQ0=0;QD=29.44;SB=-284.53;TI=NM_017745,NM_001123385,NM_001123383,NM_001123384;GI=BCOR,BCOR,BCOR,BCOR;FC=Synonymous_A564A,Synonymous_A564A,Synonymous_A564A,Synonymous_A564A;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,24:24:54.18:740,54,0:1.000:54 chrX 39933339 rs5917933 A G 2350.69 PASS AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7776;MQ=53.91;MQ0=0;QD=27.33;SB=-1666.86;TI=NM_017745,NM_001123385,NM_001123383,NM_001123384;GI=BCOR,BCOR,BCOR,BCOR;FC=Synonymous_D420D,Synonymous_D420D,Synonymous_D420D,Synonymous_D420D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,86:86:99:2384,172,0:1.000:99 chrX 41377809 . G GA 88.83 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.187;DP=51;FS=1.380;HRun=11;HaplotypeScore=106.8564;MQ=50.98;MQ0=0;MQRankSum=0.258;QD=1.74;ReadPosRankSum=0.351;SB=-13.26;TI=NM_001126055,NM_001126054,NM_003688;GI=CASK,CASK,CASK;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:38,10:51:99:128,0,902:0.208:88 chrX 41379131 . TA T 217.39 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.555;DP=80;FS=0.971;HRun=13;HaplotypeScore=375.5019;MQ=48.94;MQ0=0;MQRankSum=-1.437;QD=2.72;ReadPosRankSum=0.888;SB=-78.73;TI=NM_001126055,NM_001126054,NM_003688;GI=CASK,CASK,CASK;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:59,15:80:99:256,0,1028:0.203:99 chrX 46357342 . TAC T 11489.05 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.335;DP=330;FS=0.000;HRun=0;HaplotypeScore=221.3938;MQ=54.77;MQ0=1;MQRankSum=1.861;QD=34.82;ReadPosRankSum=1.687;SB=-5024.01;TI=NM_001039891,NM_001190417,NM_001146291;GI=ZNF674,ZNF674,ZNF674;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:66,263:329:99:11489,712,0:0.799:99 chrX 46357994 rs55646680 G A 9746.91 PASS AC=2;AF=1.00;AN=2;DP=374;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.9002;MQ=51.04;MQ0=0;QD=26.06;SB=-6379.16;TI=NM_001039891,NM_001190417,NM_001146291;GI=ZNF674,ZNF674,ZNF674;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,374:374:99:9747,695,0:1.000:99 chrX 46358117 rs55678135 C T 1480.98 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.596;DP=56;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=23.2982;MQ=43.47;MQ0=0;MQRankSum=2.181;QD=26.45;ReadPosRankSum=1.731;SB=-828.33;TI=NM_001039891,NM_001190417,NM_001146291;GI=ZNF674,ZNF674,ZNF674;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,53:56:98.83:1514,99,0:0.964:98 chrX 46358156 . CTA C 824.48 LowVariantFreq AC=2;AF=1.00;AN=2;BaseQRankSum=-0.168;DP=32;FS=0.000;HRun=0;HaplotypeScore=325.5562;MQ=41.46;MQ0=0;MQRankSum=-0.950;QD=25.77;ReadPosRankSum=1.398;SB=-348.29;TI=NM_001039891,NM_001190417,NM_001146291;GI=ZNF674,ZNF674,ZNF674;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:19,4:32:80.94:867,81,0:0.174:80 chrX 46358589 rs10156987 A C 6803.54 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.111;DP=271;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.7238;MQ=49.93;MQ0=0;MQRankSum=-0.072;QD=25.11;ReadPosRankSum=2.238;SB=-5006.91;TI=NM_001039891,NM_001190417,NM_001146291;GI=ZNF674,ZNF674,ZNF674;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:5,266:271:99:6804,405,0:0.982:99 chrX 47327111 rs5905607 T C 1329.11 PASS AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=50.69;MQ0=0;QD=25.08;SB=-869.56;TI=NM_007130,NM_153380;GI=ZNF41,ZNF41;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,53:53:96.32:1362,96,0:1.000:96 chrX 48549661 . A C 53.07 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-3.618;DP=50;Dels=0.00;FS=20.338;HRun=6;HaplotypeScore=35.5184;MQ=42.47;MQ0=0;MQRankSum=-4.083;QD=1.06;ReadPosRankSum=1.140;SB=-0.01;TI=NM_000377;GI=WAS;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:35,14:50:83.06:83,0,955:0.286:53 chrX 49107570 . T G 45.04 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-2.760;DP=19;Dels=0.00;FS=25.611;HRun=4;HaplotypeScore=19.1215;MQ=38.80;MQ0=0;MQRankSum=-1.873;QD=2.37;ReadPosRankSum=-2.169;SB=0.01;TI=NM_001114377,NM_014009;GI=FOXP3,FOXP3;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:13,5:19:75.03:75,0,397:0.278:45 chrX 50334694 . TTTTCTTTC T 5381.23 R8 AC=2;AF=1.00;AN=2;DP=82;FS=0.000;HRun=0;HaplotypeScore=163.7687;MQ=34.43;MQ0=0;QD=65.62;SB=-686.92;TI=NM_020717,NR_027121;GI=SHROOM4,SHROOM4;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:25,53:81:99:5381,178,0:0.679:99 chrX 50334780 rs5915276 T C 1252.58 PASS AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9142;MQ=38.54;MQ0=0;QD=32.12;SB=-147.53;TI=NM_020717,NR_027121;GI=SHROOM4,SHROOM4;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,38:39:99:1286,111,0:1.000:99 chrX 50335008 rs2873098 T C 3020.98 PASS AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6274;MQ=53.25;MQ0=0;QD=27.46;SB=-1348.47;TI=NM_020717,NR_027121;GI=SHROOM4,SHROOM4;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,110:110:99:3054,220,0:1.000:99 chrX 50350408 rs12689863 G A 6900.94 PASS AC=2;AF=1.00;AN=2;DP=264;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=13.5595;MQ=48.11;MQ0=0;QD=26.14;SB=-4542.21;TI=NM_020717,NR_027121;GI=SHROOM4,SHROOM4;FC=Missense_S1245L,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,264:264:99:6901,491,0:1.000:99 chrX 50350674 rs3747282 T C 620.61 LowGQ AC=2;AF=1.00;AN=2;BaseQRankSum=0.052;DP=25;Dels=0.04;FS=0.000;HRun=1;HaplotypeScore=3.7936;MQ=53.13;MQ0=0;MQRankSum=1.306;QD=24.82;ReadPosRankSum=-0.052;SB=-332.55;TI=NM_020717,NR_027121;GI=SHROOM4,SHROOM4;FC=Synonymous_E1156E,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,22:24:12.40:653,12,0:0.917:12 chrX 50350728 rs6614552 T C 99.68 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.596;DP=21;Dels=0.00;FS=12.155;HRun=1;HaplotypeScore=9.8892;MQ=40.36;MQ0=0;MQRankSum=-2.063;QD=4.75;ReadPosRankSum=-2.141;SB=-0.01;TI=NM_020717,NR_027121;GI=SHROOM4,SHROOM4;FC=Synonymous_E1138E,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:15,6:21:99:130,0,480:0.286:99 chrX 50350728 . T TTCC 547.71 LowGQ AC=2;AF=1.00;AN=2;BaseQRankSum=-0.116;DP=21;FS=0.000;HRun=0;HaplotypeScore=142.5246;MQ=40.36;MQ0=0;MQRankSum=-0.116;QD=26.08;ReadPosRankSum=-0.579;SB=-154.03;TI=NM_020717,NR_027121;GI=SHROOM4,SHROOM4;FC=1AA_Insertion,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:13,6:21:15.12:589,15,0:0.316:15 chrX 53220836 rs1886889 G T 3589.24 PASS AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=49.37;MQ0=0;QD=25.46;SB=-2564.01;TI=NM_001146702,NM_004187;GI=KDM5C,KDM5C;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,141:141:99:3589,253,0:1.000:99 chrX 53221259 rs75167298 T TG 1951.86 PASS AC=2;AF=1.00;AN=2;DP=47;FS=0.000;HRun=1;HaplotypeScore=35.8080;MQ=58.01;MQ0=0;QD=41.53;SB=-466.89;TI=NM_001146702,NM_004187;GI=KDM5C,KDM5C;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,47:47:99:1994,141,0:1.000:99 chrX 53222043 . A AC 1613.20 PASS AC=2;AF=1.00;AN=2;DP=55;FS=0.000;HRun=6;HaplotypeScore=145.9385;MQ=49.46;MQ0=0;QD=29.33;SB=-601.82;TI=NM_001146702,NM_004187;GI=KDM5C,KDM5C;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:5,48:55:99:1655,147,0:0.906:99 chrX 53559518 . TA T 37.55 LowVariantFreq;R8;SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.726;DP=123;FS=3.895;HRun=12;HaplotypeScore=436.9627;MQ=48.50;MQ0=0;MQRankSum=1.328;QD=0.31;ReadPosRankSum=-0.447;SB=-0.00;TI=NM_031407;GI=HUWE1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:84,20:123:76.58:77,0,1991:0.192:37 chrX 53563589 rs426298 A G 2311.94 PASS AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=51.42;MQ0=0;QD=24.34;SB=-1764.58;TI=NM_031407;GI=HUWE1;FC=Synonymous_G4059G;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,95:95:99:2345,166,0:1.000:99 chrX 53641647 rs6638360 T C 4385.01 PASS AC=2;AF=1.00;AN=2;DP=168;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5764;MQ=48.46;MQ0=0;QD=26.10;SB=-2949.54;TI=NM_031407;GI=HUWE1;FC=Synonymous_S703S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,168:168:99:4385,313,0:1.000:99 chrX 53713601 rs5978184 C T 1489.13 PASS AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.0409;MQ=49.56;MQ0=0;QD=26.59;SB=-948.01;TI=NM_031407;GI=HUWE1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,55:56:99:1522,114,0:1.000:99 chrX 53713640 rs2333864 G C 3540.64 PASS AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=9.2166;MQ=46.81;MQ0=0;QD=25.11;SB=-2596.72;TI=NM_031407;GI=HUWE1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,141:141:99:3541,250,0:1.000:99 chrX 54471920 . TA T 264.72 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.493;DP=91;FS=2.742;HRun=13;HaplotypeScore=215.1106;MQ=51.17;MQ0=0;MQRankSum=2.079;QD=2.91;ReadPosRankSum=-0.109;SB=-151.33;TI=NM_004463;GI=FGD1;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:50,18:91:99:304,0,1065:0.265:99 chrX 54472506 rs2230265 G A 529.51 LowGQ AC=2;AF=1.00;AN=2;BaseQRankSum=1.004;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.6754;MQ=57.66;MQ0=0;MQRankSum=1.552;QD=26.48;ReadPosRankSum=-1.369;SB=-24.69;TI=NM_004463;GI=FGD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,18:20:18.53:562,19,0:0.947:18 chrX 54497126 . T G 53.51 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.047;DP=31;Dels=0.00;FS=1.938;HRun=2;HaplotypeScore=25.9637;MQ=48.48;MQ0=0;MQRankSum=-2.390;QD=1.73;ReadPosRankSum=-0.403;SB=-7.74;TI=NM_004463;GI=FGD1;FC=Synonymous_P183P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:26,5:31:83.50:83,0,752:0.161:53 chrX 62857760 . G C 23.75 SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.898;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.6635;MQ=51.01;MQ0=0;MQRankSum=0.898;QD=2.38;ReadPosRankSum=-0.480;SB=-0.01;TI=NM_001173480,NM_015185,NM_001173479;GI=ARHGEF9,ARHGEF9,ARHGEF9;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:8,2:10:53.73:54,0,212:0.200:23 chrX 62857762 . C G 89.53 LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-0.633;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5344;MQ=51.01;MQ0=0;MQRankSum=0.633;QD=8.95;ReadPosRankSum=0.365;SB=-31.62;TI=NM_001173480,NM_015185,NM_001173479;GI=ARHGEF9,ARHGEF9,ARHGEF9;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:6,4:10:99:120,0,109:0.400:89 chrX 66764191 . G C 119.70 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.912;DP=130;Dels=0.02;FS=89.260;HRun=4;HaplotypeScore=104.5054;MQ=41.31;MQ0=0;MQRankSum=-4.074;QD=0.92;ReadPosRankSum=-1.042;SB=-0.01;TI=NM_000044;GI=AR;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:106,19:127:99:150,0,2679:0.152:99 chrX 66764194 . T C 116.68 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.487;DP=132;Dels=0.04;FS=76.652;HRun=6;HaplotypeScore=82.9449;MQ=40.95;MQ0=0;MQRankSum=-5.017;QD=0.88;ReadPosRankSum=0.207;SB=-0.01;TI=NM_000044;GI=AR;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:107,18:127:99:147,0,2912:0.144:99 chrX 66764201 . A C 246.41 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.855;DP=113;Dels=0.01;FS=126.023;HRun=6;HaplotypeScore=137.6619;MQ=40.54;MQ0=0;MQRankSum=-3.641;QD=2.18;ReadPosRankSum=-0.390;SB=-0.01;TI=NM_000044;GI=AR;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:84,26:112:99:276,0,2005:0.236:99 chrX 66944119 . CAA C,CA 1678.36 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-0.125;DP=81;FS=0.000;HaplotypeScore=248.5251;MQ=54.37;MQ0=0;MQRankSum=-0.722;QD=20.72;ReadPosRankSum=0.780;SB=-856.22;TI=NM_000044,NM_001011645;GI=AR,AR;FC=Splicing,Splicing;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:16,9,2:81:45.94:1756,1451,1669,141,0,46:0.407:45 chrX 68061229 rs16990748 A C 3477.41 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.455;DP=168;Dels=0.01;FS=0.000;HRun=0;HaplotypeScore=54.8548;MQ=43.85;MQ0=0;MQRankSum=-4.777;QD=20.70;ReadPosRankSum=-6.102;SB=-2215.60;TI=NM_004429;GI=EFNB1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,145:167:99:3477,0,303:0.868:99 chrX 68061231 rs688969 A C 4375.87 PASS AC=2;AF=1.00;AN=2;DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=55.8545;MQ=44.18;MQ0=0;QD=25.59;SB=-2711.05;TI=NM_004429;GI=EFNB1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,171:171:99:4376,316,0:1.000:99 chrX 69080840 rs1203003 G A 6025.14 PASS AC=2;AF=1.00;AN=2;DP=223;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=18.0475;MQ=51.08;MQ0=0;QD=27.02;SB=-3919.12;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 1/1:0,222:223:99:6025,433,0:1.000:99 chrX 69258515 rs3795170 T G 3007.21 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.997;DP=127;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5764;MQ=48.64;MQ0=0;MQRankSum=0.068;QD=23.68;ReadPosRankSum=-1.404;SB=-2240.88;TI=NM_001005609,NM_001399,NM_001005612;GI=EDA,EDA,EDA;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,125:127:99:3040,179,0:0.984:99 chrX 69722274 . CT C 87.19 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.596;DP=81;FS=0.000;HRun=13;HaplotypeScore=221.4732;MQ=51.10;MQ0=0;MQRankSum=-0.979;QD=1.08;ReadPosRankSum=-0.869;SB=-38.01;TI=NM_021120,NM_020730,NM_001166278;GI=DLG3,DLG3,DLG3;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:60,12:81:99:126,0,1269:0.167:87 chrX 69723447 . G GT 28.81 LowVariantFreq;R8 AC=1;AF=0.50;AN=2;BaseQRankSum=2.267;DP=81;FS=0.000;HRun=13;HaplotypeScore=233.8306;MQ=47.74;MQ0=0;MQRankSum=0.776;QD=0.36;ReadPosRankSum=-0.255;SB=-23.28;TI=NM_021120,NM_020730,NM_001166278;GI=DLG3,DLG3,DLG3;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:53,10:81:65.56:66,0,1122:0.159:28 chrX 73641569 rs6647476 T C 2420.60 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.268;DP=87;Dels=0.00;FS=10.839;HRun=1;HaplotypeScore=6.4988;MQ=53.33;MQ0=0;MQRankSum=2.617;QD=27.82;ReadPosRankSum=1.756;SB=-1226.72;TI=NM_006517;GI=SLC16A2;FC=Missense_S107P;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,84:87:88.72:2454,89,0:0.966:88 chrX 76762370 . G T 114.61 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.886;DP=68;Dels=0.04;FS=115.671;HRun=4;HaplotypeScore=60.0836;MQ=37.80;MQ0=0;MQRankSum=-0.876;QD=1.69;ReadPosRankSum=-3.754;SB=-2.46;TI=NM_000489,NM_138270;GI=ATRX,ATRX;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,16:65:99:145,0,1360:0.246:99 chrX 76762375 . C T 451.17 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-4.389;DP=74;Dels=0.01;FS=120.641;HRun=26;HaplotypeScore=59.0388;MQ=37.16;MQ0=0;MQRankSum=-0.073;QD=6.10;ReadPosRankSum=-3.537;SB=-2.06;TI=NM_000489,NM_138270;GI=ATRX,ATRX;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:43,30:73:99:481,0,1081:0.411:99 chrX 76763679 . TA T 399.68 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.076;DP=163;FS=1.401;HRun=13;HaplotypeScore=466.3143;MQ=51.57;MQ0=0;MQRankSum=1.831;QD=2.45;ReadPosRankSum=-0.181;SB=-158.78;TI=NM_000489,NM_138270;GI=ATRX,ATRX;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:108,30:163:99:439,0,2190:0.217:99 chrX 76937963 rs3088074 G C 10345.98 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.986;DP=371;Dels=0.00;FS=7.539;HRun=1;HaplotypeScore=30.5045;MQ=53.20;MQ0=0;MQRankSum=-1.204;QD=27.89;ReadPosRankSum=-1.008;SB=-5790.64;TI=NM_000489,NM_138270;GI=ATRX,ATRX;FC=Missense_Q929E,Missense_Q891E;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,366:371:99:10346,686,0:0.992:99 chrX 77268502 rs2227291 G C 5953.09 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.581;DP=241;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.3633;MQ=49.48;MQ0=0;MQRankSum=-1.089;QD=24.70;ReadPosRankSum=-0.691;SB=-4278.37;TI=NM_000052;GI=ATP7A;FC=Missense_V767L;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,234:241:99:5953,349,0:0.987:99 chrX 77298857 rs4826245 G A 8373.49 PASS AC=2;AF=1.00;AN=2;DP=336;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.1520;MQ=52.67;MQ0=0;QD=24.92;SB=-6044.95;TI=NM_000052;GI=ATP7A;FC=Missense_E1350K;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,336:336:99:8373,584,0:1.000:99 chrX 77302385 . C CAA,CA 862.63 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-1.895;DP=57;FS=3.457;HaplotypeScore=224.0139;MQ=49.00;MQ0=0;MQRankSum=0.678;QD=15.13;ReadPosRankSum=-0.373;SB=-277.10;TI=NM_000052;GI=ATP7A;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:18,28,11:56:42.32:939,42,229,482,0,568:0.684:42 chrX 77303547 . C T 3382.52 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.677;DP=134;Dels=0.00;FS=3.038;HRun=1;HaplotypeScore=6.5375;MQ=53.83;MQ0=0;MQRankSum=1.745;QD=25.24;ReadPosRankSum=-0.346;SB=-2448.13;TI=NM_000052;GI=ATP7A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,131:134:99:3383,190,0:0.978:99 chrX 77304027 rs1062472 T C 2325.68 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.170;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7879;MQ=55.37;MQ0=0;MQRankSum=1.404;QD=31.43;ReadPosRankSum=-1.358;SB=-1178.87;TI=NM_000052;GI=ATP7A;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,73:74:99:2359,141,0:0.986:99 chrX 79925246 rs2063579 A G 2991.64 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.663;DP=101;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.2437;MQ=57.80;MQ0=0;MQRankSum=1.697;QD=29.62;ReadPosRankSum=0.242;SB=-1669.82;TI=NM_153252;GI=BRWD3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,99:101:99:3025,220,0:0.990:99 chrX 79929277 rs3810676 G A 2982.16 PASS AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8924;MQ=50.86;MQ0=0;QD=28.67;SB=-1641.90;TI=NM_153252;GI=BRWD3;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,104:104:99:3015,220,0:1.000:99 chrX 79931831 rs67400945 CGTGT C 2152.76 PASS AC=2;AF=1.00;AN=2;DP=34;FS=0.000;HRun=0;HaplotypeScore=38.9265;MQ=49.29;MQ0=0;QD=63.32;SB=-956.40;TI=NM_153252;GI=BRWD3;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,34:34:99:2195,102,0:1.000:99 chrX 79943569 rs3122407 T C 11191.59 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.688;DP=397;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=19.8679;MQ=50.71;MQ0=0;MQRankSum=0.145;QD=28.19;ReadPosRankSum=-0.241;SB=-6488.18;TI=NM_153252;GI=BRWD3;FC=Missense_K1288R;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,394:397:99:11192,807,0:0.997:99 chrX 80065199 . G GGA 2487.17 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-1.331;DP=111;FS=0.000;HRun=0;HaplotypeScore=254.3079;MQ=53.20;MQ0=0;MQRankSum=0.521;QD=22.41;ReadPosRankSum=0.019;SB=-692.07;TI=NM_153252;GI=BRWD3;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:45,64:108:99:2529,141,0:0.587:99 chrX 99664018 . G A 133.37 LowGQ;LowDP AC=2;AF=1.00;AN=2;DP=8;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=37.00;MQ0=0;QD=16.67;SB=-120.02;TI=NM_020766,NM_001184880,NM_001105243;GI=PCDH19,PCDH19,PCDH19;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,8:8:12.04:166,12,0:1.000:12 chrX 103042882 rs1126707 T C 4259.81 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.806;DP=172;Dels=0.00;FS=3.274;HRun=0;HaplotypeScore=4.6638;MQ=49.08;MQ0=0;MQRankSum=1.672;QD=24.77;ReadPosRankSum=0.222;SB=-3119.94;TI=NM_001128834,NM_199478,NM_000533;GI=PLP1,PLP1,PLP1;FC=Synonymous_D203D,Synonymous_D168D,Synonymous_D203D;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,171:172:99:4260,268,0:0.994:99 chrX 103046526 rs71719797 TG T 12738.55 PASS AC=2;AF=1.00;AN=2;DP=359;FS=0.000;HRun=5;HaplotypeScore=319.4358;MQ=49.05;MQ0=0;QD=35.48;SB=-5538.69;TI=NM_001128834,NM_199478,NM_000533;GI=PLP1,PLP1,PLP1;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:34,323:359:99:12739,999,0:0.905:99 chrX 103047048 . TA T 859.48 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.687;DP=275;FS=2.219;HRun=13;HaplotypeScore=699.1387;MQ=54.38;MQ0=0;MQRankSum=2.644;QD=3.13;ReadPosRankSum=-0.099;SB=-406.61;TI=NM_001128834,NM_199478,NM_000533;GI=PLP1,PLP1,PLP1;FC=Noncoding,Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:179,46:275:99:899,0,3061:0.204:99 chrX 110464173 . CAA C,CA 694.84 LowVariantFreq;R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-1.849;DP=94;FS=12.837;HaplotypeScore=450.5006;MQ=41.52;MQ0=0;MQRankSum=0.991;QD=7.39;ReadPosRankSum=2.026;SB=-129.97;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 1/2:50,9,3:94:99:772,319,561,146,0,167:0.194:99 chrX 110543844 . CTT C 250.11 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=-0.221;DP=65;FS=1.296;HRun=16;HaplotypeScore=322.9960;MQ=48.11;MQ0=0;MQRankSum=1.022;QD=3.85;ReadPosRankSum=0.139;SB=-94.34;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 0/1:31,9:65:99:289,0,760:0.225:99 chrX 123041043 rs28382740 A G 10604.16 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=-0.111;DP=392;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=21.0128;MQ=48.50;MQ0=15;MQRankSum=-0.221;QD=27.05;ReadPosRankSum=-1.677;SB=-6139.43;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:14,377:392:99:10604,730,0:0.964:99 chrX 123041834 rs28382742 G T 8749.47 PASS AC=2;AF=1.00;AN=2;DP=293;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=53.2196;MQ=51.78;MQ0=0;QD=29.86;SB=-2889.18;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,290:293:99:8749,665,0:1.000:99 chrX 123042424 rs28382744;rs56193972 G A 10249.87 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.172;DP=387;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=17.4719;MQ=50.68;MQ0=2;MQRankSum=-0.680;QD=26.49;ReadPosRankSum=-0.795;SB=-7314.89;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:4,382:387:99:10250,700,0:0.990:99 chrX 123042707 rs17334746 T C 9706.62 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.649;DP=335;Dels=0.00;FS=3.715;HRun=2;HaplotypeScore=14.8314;MQ=53.29;MQ0=2;MQRankSum=1.503;QD=28.97;ReadPosRankSum=0.762;SB=-5334.77;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:3,331:335:99:9707,707,0:0.991:99 chrX 123043324 rs28382745 TGTATA T 19297.23 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.588;DP=256;FS=2.200;HRun=0;HaplotypeScore=128.6500;MQ=52.77;MQ0=0;MQRankSum=-1.710;QD=75.38;ReadPosRankSum=-0.620;SB=-9136.09;TI=NM_001167;GI=XIAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:74,181:256:99:19297,529,0:0.710:99 chrX 123043331 . T A 1072.89 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=-5.515;DP=323;Dels=0.00;FS=58.682;HRun=0;HaplotypeScore=929.8155;MQ=51.76;MQ0=0;MQRankSum=0.699;QD=3.32;ReadPosRankSum=-6.423;SB=-54.01;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:263,60:323:99:1103,0,6920:0.186:99 chrX 123043705 rs17330637 A C 12920.08 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.872;DP=485;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=20.8536;MQ=54.36;MQ0=0;MQRankSum=0.058;QD=26.64;ReadPosRankSum=-1.543;SB=-8869.06;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:2,482:485:99:12920,887,0:0.996:99 chrX 123043876 rs17330644 C T 14686.47 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.669;DP=496;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=25.4407;MQ=53.51;MQ0=0;MQRankSum=-0.512;QD=29.61;ReadPosRankSum=-0.912;SB=-7149.91;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,493:496:99:14686,1071,0:0.998:99 chrX 123044414 rs17330651 T C 4857.92 PASS AC=2;AF=1.00;AN=2;DP=200;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.9265;MQ=48.40;MQ0=0;QD=24.29;SB=-3789.53;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,200:200:99:4858,337,0:1.000:99 chrX 123044673 rs28382747 T G 1040.11 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.529;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.7886;MQ=42.73;MQ0=0;MQRankSum=1.427;QD=28.89;ReadPosRankSum=-1.121;SB=-32.51;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,33:36:93.23:1073,93,0:0.971:93 chrX 123044717 . C CA 989.54 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=0.326;DP=132;FS=6.375;HRun=16;HaplotypeScore=540.0173;MQ=51.46;MQ0=0;MQRankSum=-1.351;QD=7.50;ReadPosRankSum=1.544;SB=-402.48;TI=NM_001167;GI=XIAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:49,48:131:99:1029,0,359:0.495:99 chrX 123045046 rs28382749 A G 6849.04 PASS AC=2;AF=1.00;AN=2;DP=261;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=8.7764;MQ=49.76;MQ0=0;QD=26.24;SB=-3996.67;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,261:261:99:6849,488,0:1.000:99 chrX 123045109 rs28382751 C A 2058.97 PASS AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=51.76;MQ0=0;QD=30.73;SB=-686.00;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,67:67:99:2092,156,0:1.000:99 chrX 123045177 . A G 52.13 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.528;DP=27;Dels=0.00;FS=25.056;HRun=0;HaplotypeScore=4.4924;MQ=48.72;MQ0=0;MQRankSum=-2.091;QD=1.93;ReadPosRankSum=-2.840;SB=-0.01;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:22,5:27:82.12:82,0,745:0.185:52 chrX 123045183 . T C 55.45 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.279;DP=26;Dels=0.00;FS=22.270;HRun=1;HaplotypeScore=8.2157;MQ=48.24;MQ0=0;MQRankSum=-2.559;QD=2.13;ReadPosRankSum=-2.701;SB=-0.01;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:19,5:26:85.44:85,0,616:0.208:55 chrX 123045184 . G A 24.72 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.733;DP=26;Dels=0.00;FS=20.017;HRun=0;HaplotypeScore=8.2157;MQ=48.24;MQ0=0;MQRankSum=-2.667;QD=0.95;ReadPosRankSum=-2.798;SB=-0.01;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:21,5:26:54.70:55,0,709:0.192:24 chrX 123045196 . T A 32.70 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.980;DP=29;Dels=0.00;FS=10.887;HRun=0;HaplotypeScore=7.2722;MQ=49.31;MQ0=0;MQRankSum=-2.579;QD=1.13;ReadPosRankSum=-1.320;SB=-0.01;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:23,5:29:62.69:63,0,719:0.179:32 chrX 123045219 rs28382752 T C 848.51 PASS AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3097;MQ=49.43;MQ0=0;QD=32.63;SB=-395.20;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,26:26:72.21:882,72,0:1.000:72 chrX 123045327 . C CAA,CAAA 1432.86 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-1.267;DP=69;FS=3.490;HaplotypeScore=188.9301;MQ=54.29;MQ0=0;MQRankSum=1.525;QD=20.77;ReadPosRankSum=1.577;SB=-654.63;TI=NM_001167;GI=XIAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:8,17,26:69:99:1511,418,428,249,0,407:0.843:99 chrX 123045641 rs9856 C T 9780.67 PASS AC=2;AF=1.00;AN=2;DP=372;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=18.0492;MQ=53.80;MQ0=0;QD=26.29;SB=-6344.52;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,371:372:99:9781,698,0:1.000:99 chrX 123045915 rs8371 C T 8456.74 PASS AC=2;AF=1.00;AN=2;DP=335;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=13.8627;MQ=50.69;MQ0=0;QD=25.24;SB=-5620.72;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,335:335:99:8457,602,0:1.000:99 chrX 123046066 . G GAAA 1051.88 R8 AC=2;AF=1.00;AN=2;DP=42;FS=0.000;HRun=12;HaplotypeScore=393.7331;MQ=30.10;MQ0=0;QD=25.04;SB=-94.60;TI=NM_001167;GI=XIAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:18,16:42:91.98:1094,92,0:0.471:91 chrX 123046081 . C A 110.84 SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.290;DP=39;Dels=0.00;FS=11.957;HRun=1;HaplotypeScore=48.1933;MQ=29.96;MQ0=0;MQRankSum=1.191;QD=2.84;ReadPosRankSum=-0.740;SB=-0.01;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:27,11:39:99:141,0,668:0.289:99 chrX 123046089 . T A 43.58 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.055;DP=41;Dels=0.00;FS=5.226;HRun=12;HaplotypeScore=70.9986;MQ=29.91;MQ0=0;MQRankSum=-0.128;QD=1.06;ReadPosRankSum=-0.567;SB=-0.01;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:32,7:41:73.58:74,0,563:0.179:43 chrX 123046099 rs28382754 A T 105.52 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.521;DP=42;Dels=0.00;FS=16.885;HRun=0;HaplotypeScore=56.7327;MQ=29.89;MQ0=0;MQRankSum=0.208;QD=2.51;ReadPosRankSum=-1.682;SB=-0.01;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:34,8:42:99:136,0,984:0.190:99 chrX 123046099 rs58114044 A AT 1159.68 LowGQ AC=2;AF=1.00;AN=2;BaseQRankSum=-2.160;DP=42;FS=3.899;HRun=0;HaplotypeScore=357.9775;MQ=29.89;MQ0=0;MQRankSum=-0.270;QD=27.61;ReadPosRankSum=0.844;SB=-493.45;TI=NM_001167;GI=XIAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:16,21:42:11.90:1201,12,0:0.568:11 chrX 123046198 . CAA C,CA 1161.27 R8 AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=1.821;DP=65;FS=1.724;HaplotypeScore=212.1223;MQ=40.78;MQ0=0;MQRankSum=0.250;QD=17.87;ReadPosRankSum=0.202;SB=-595.16;TI=NM_001167;GI=XIAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:11,11,0:65:99:1239,772,918,214,0,187:0.500:99 chrX 123046272 rs5958343 A T 1997.39 PASS AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.3645;MQ=44.39;MQ0=0;QD=25.61;SB=-1188.55;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,78:78:99:2030,156,0:1.000:99 chrX 123046535 . TGT T,TT 1830.32 LowVariantFreq AC=1,1;AF=0.50,0.50;AN=2;BaseQRankSum=-1.910;DP=94;FS=0.000;HaplotypeScore=473.5640;MQ=51.29;MQ0=0;MQRankSum=-1.358;QD=19.47;ReadPosRankSum=-0.403;SB=-810.85;TI=NM_001167;GI=XIAP;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/2:37,0,0:94:99:1908,456,335,460,0,282:0.000:99 chrX 123046537 . T A 1291.57 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.562;DP=92;Dels=0.04;FS=8.047;HRun=0;HaplotypeScore=88.4183;MQ=51.08;MQ0=0;MQRankSum=-0.160;QD=14.04;ReadPosRankSum=0.453;SB=-1000.30;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:29,59:88:99:1322,0,657:0.670:99 chrX 123046538 . T A 255.17 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=-0.273;DP=92;Dels=0.00;FS=2.397;HRun=0;HaplotypeScore=89.4181;MQ=51.08;MQ0=0;MQRankSum=-0.036;QD=2.77;ReadPosRankSum=0.850;SB=-67.04;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:76,16:92:99:285,0,1829:0.174:99 chrX 123046923 rs6648556 T G 5986.02 PASS AC=2;AF=1.00;AN=2;DP=233;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=12.1156;MQ=50.99;MQ0=0;QD=25.69;SB=-4261.47;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,232:233:99:5986,430,0:1.000:99 chrX 123047282 rs28382755 C T 5148.37 PASS AC=2;AF=1.00;AN=2;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4651;MQ=54.09;MQ0=0;QD=29.25;SB=-2485.01;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,176:176:99:5148,370,0:1.000:99 chrX 123047668 . G C 2434.67 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.364;DP=507;Dels=0.00;FS=12.263;HRun=0;HaplotypeScore=11.8230;MQ=50.98;MQ0=10;MQRankSum=-4.960;QD=4.80;ReadPosRankSum=1.230;SB=-2032.50;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:345,162:507:99:2465,0,9232:0.320:99 chrX 123047709 rs72610614 G A 2321.81 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.293;DP=559;Dels=0.00;FS=4.772;HRun=0;HaplotypeScore=17.9824;MQ=51.18;MQ0=15;MQRankSum=-3.285;QD=4.15;ReadPosRankSum=3.444;SB=-1945.20;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:402,157:559:99:2352,0,10180:0.281:99 chrX 123047728 . T C 2181.70 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=5.108;DP=529;Dels=0.00;FS=7.955;HRun=0;HaplotypeScore=17.4003;MQ=51.63;MQ0=15;MQRankSum=-3.735;QD=4.12;ReadPosRankSum=-1.190;SB=-1821.83;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:378,150:529:99:2212,0,9462:0.284:99 chrX 123047770 . C T 426.96 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=2.009;DP=429;Dels=0.00;FS=9.324;HRun=2;HaplotypeScore=25.3284;MQ=52.81;MQ0=7;MQRankSum=3.177;QD=1.00;ReadPosRankSum=0.578;SB=-63.80;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:374,52:429:99:457,0,9030:0.122:99 chrX 123047802 . A C 247.54 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=1.043;DP=393;Dels=0.00;FS=12.336;HRun=0;HaplotypeScore=19.9417;MQ=53.41;MQ0=3;MQRankSum=0.183;QD=0.63;ReadPosRankSum=-6.819;SB=-0.01;TI=NM_001167;GI=XIAP;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:353,35:393:99:278,0,8618:0.090:99 chrX 123505439 rs67202578 GA G 15649.04 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.726;DP=422;FS=0.000;HRun=5;HaplotypeScore=282.2065;MQ=52.86;MQ0=0;MQRankSum=-0.373;QD=37.08;ReadPosRankSum=-0.857;SB=-4961.91;TI=NM_002351,NM_001114937;GI=SH2D1A,SH2D1A;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:9,410:422:99:15649,1134,0:0.979:99 chrX 123506562 rs6649207 A G 6359.80 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.551;DP=250;Dels=0.00;FS=3.028;HRun=2;HaplotypeScore=13.7345;MQ=50.52;MQ0=0;MQRankSum=1.676;QD=25.44;ReadPosRankSum=0.007;SB=-4732.53;TI=NM_002351,NM_001114937;GI=SH2D1A,SH2D1A;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,248:250:99:6360,426,0:0.996:99 chrX 128725857 rs6529391 A G 2006.72 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.637;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7829;MQ=54.47;MQ0=0;MQRankSum=-1.542;QD=27.49;ReadPosRankSum=-1.258;SB=-1232.92;TI=NM_000276,NM_001587;GI=OCRL,OCRL;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,72:73:99:2040,150,0:0.986:99 chrX 128938958 rs1053486 T C 1488.56 PASS AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=50.54;MQ0=0;QD=28.09;SB=-890.02;TI=NM_001008222,NM_016032;GI=ZDHHC9,ZDHHC9;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,53:53:99:1522,117,0:1.000:99 chrX 128939304 . AT A 392.67 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=1.893;DP=164;FS=0.000;HRun=13;HaplotypeScore=240.1628;MQ=47.84;MQ0=0;MQRankSum=1.624;QD=2.39;ReadPosRankSum=-1.750;SB=-189.34;TI=NM_001008222,NM_016032;GI=ZDHHC9,ZDHHC9;FC=Noncoding,Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:111,31:164:99:432,0,2334:0.218:99 chrX 132670054 . C CA 1653.17 R8 AC=1;AF=0.50;AN=2;BaseQRankSum=2.924;DP=186;FS=2.220;HRun=13;HaplotypeScore=530.8656;MQ=51.12;MQ0=0;MQRankSum=1.952;QD=8.89;ReadPosRankSum=1.180;SB=-790.86;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 0/1:68,82:186:99:1692,0,803:0.547:99 chrX 138645057 . AGT A 515.60 LowGQ;LowGQX;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=-1.240;DP=19;FS=4.472;HRun=0;HaplotypeScore=23.3735;MQ=55.80;MQ0=0;MQRankSum=-1.240;QD=27.14;ReadPosRankSum=0.992;SB=-172.41;TI=NM_000133;GI=F9;FC=Noncoding;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:7,12:19:3.77:554,0,4:0.632:3 chrX 147582251 . C G 35.63 LowGQ;LowGQX;SB;LowDP AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;QD=17.81;SB=-0.01;TI=NM_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 1/1:0,2:2:6.02:67,6,0:1.000:6 chrX 147582260 . C T 27.86 LowGQ;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DP=3;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;MQRankSum=0.736;QD=9.29;ReadPosRankSum=0.736;SB=-0.01;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 0/1:1,2:3:24.41:58,0,24:0.667:24 chrX 147582268 . C A 27.86 LowGQ;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DP=3;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;MQRankSum=0.736;QD=9.29;ReadPosRankSum=-0.736;SB=-0.01;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 0/1:1,2:3:24.41:58,0,24:0.667:24 chrX 147582269 . C T 27.86 LowGQ;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.736;DP=3;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=29.00;MQ0=0;MQRankSum=0.736;QD=9.29;ReadPosRankSum=0.736;SB=-0.01;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 0/1:1,2:3:24.41:58,0,24:0.667:24 chrX 148077008 . T G 136.87 SB AC=1;AF=0.50;AN=2;BaseQRankSum=0.762;DP=24;Dels=0.00;FS=29.863;HRun=5;HaplotypeScore=10.9616;MQ=42.15;MQ0=0;MQRankSum=-2.604;QD=5.70;ReadPosRankSum=-0.826;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 0/1:17,7:24:99:167,0,439:0.292:99 chrX 148077014 . T G 88.20 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-0.539;DP=27;Dels=0.00;FS=40.277;HRun=5;HaplotypeScore=14.3161;MQ=43.33;MQ0=0;MQRankSum=-1.994;QD=3.27;ReadPosRankSum=0.108;SB=0.04;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 0/1:17,9:27:99:118,0,468:0.346:88 chrX 148077020 rs77735141 C G,T 832.00 PASS AC=1,1;AF=0.50,0.50;AN=2;DP=32;Dels=0.00;FS=0.000;HaplotypeScore=16.3801;MQ=44.80;MQ0=0;QD=26.00;SB=-246.67;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 1/2:0,9,21:32:99:892,644,620,218,0,158:1.000:99 chrX 148077028 . T G 63.98 SB AC=1;AF=0.50;AN=2;BaseQRankSum=-2.238;DP=38;Dels=0.00;FS=28.288;HRun=7;HaplotypeScore=27.6270;MQ=45.78;MQ0=0;MQRankSum=-2.847;QD=1.68;ReadPosRankSum=0.841;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 0/1:30,8:38:93.97:94,0,771:0.211:63 chrX 148079639 rs16994920 A C 5905.07 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.644;DP=235;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4651;MQ=49.22;MQ0=0;MQRankSum=-1.039;QD=25.13;ReadPosRankSum=0.892;SB=-4223.44;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 1/1:1,234:235:99:5905,412,0:0.996:99 chrX 148079740 rs58901446 A C 2761.68 PASS AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.2285;MQ=53.82;MQ0=0;QD=28.18;SB=-1853.67;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 1/1:0,98:98:99:2795,202,0:1.000:99 chrX 148079877 rs16994922 T C 5699.43 PASS AC=2;AF=1.00;AN=2;DP=223;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.0013;MQ=51.12;MQ0=0;QD=25.56;SB=-4136.96;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 1/1:0,223:223:99:5699,403,0:1.000:99 chrX 148081140 . A G 1029.40 PASS AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=54.59;MQ0=0;QD=28.59;SB=-660.40;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 1/1:0,36:36:78.25:1062,78,0:1.000:78 chrX 148081451 . A G 3224.61 PASS AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7838;MQ=51.36;MQ0=0;QD=27.56;SB=-1808.94;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 1/1:0,117:117:99:3258,238,0:1.000:99 chrX 148081662 rs5980619 G C 2346.36 PASS AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=52.40;MQ0=0;QD=25.50;SB=-1636.60;TI=NM_001169125,NM_002025,NM_001169122,NM_001169124,NM_001169123,NM_001170628;GI=AFF2,AFF2,AFF2,AFF2,AFF2,AFF2;FC=Silent,Silent,Silent,Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,92:92:99:2379,166,0:1.000:99 chrX 152954025 rs384573 A G 716.32 PASS AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=43.89;MQ0=0;QD=22.39;SB=-592.03;TI=NM_005629,NM_001142805;GI=SLC6A8,SLC6A8;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,32:32:51.17:749,51,0:1.000:51 chrX 153006141 rs79383557 T A 55.82 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=0.198;DP=193;Dels=0.00;FS=1.027;HRun=0;HaplotypeScore=12.2977;MQ=43.20;MQ0=21;MQRankSum=-6.245;QD=0.29;ReadPosRankSum=0.238;SB=-11.64;TI=NM_000033;GI=ABCD1;FC=Missense_V583E;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:155,38:193:85.81:86,0,3457:0.197:55 chrX 153009197 rs2229539 G C 5136.83 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.695;DP=185;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=24.7299;MQ=48.99;MQ0=0;MQRankSum=1.339;QD=27.77;ReadPosRankSum=-1.058;SB=-3137.35;TI=NM_000033;GI=ABCD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,184:185:99:5137,388,0:0.995:99 chrX 153009670 . G T 317.79 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=0.056;DP=295;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=11.8202;MQ=46.68;MQ0=0;MQRankSum=-8.306;QD=1.08;ReadPosRankSum=-5.264;SB=-128.02;TI=NM_000033;GI=ABCD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:257,38:295:99:348,0,6120:0.129:99 chrX 153009719 rs67211405 G A 425.37 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=1.919;DP=301;Dels=0.00;FS=4.992;HRun=1;HaplotypeScore=17.0065;MQ=48.80;MQ0=0;MQRankSum=-7.510;QD=1.41;ReadPosRankSum=-5.595;SB=-320.86;TI=NM_000033;GI=ABCD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:256,45:301:99:455,0,6510:0.150:99 chrX 153010059 rs72616452 G T 516.49 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=2.367;DP=217;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=13.6195;MQ=48.76;MQ0=4;MQRankSum=-7.071;QD=2.38;ReadPosRankSum=-3.960;SB=-391.79;TI=NM_000033;GI=ABCD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:172,45:217:99:546,0,4086:0.207:99 chrX 153010066 rs11803 C T 4386.42 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.372;DP=239;Dels=0.00;FS=0.589;HRun=0;HaplotypeScore=20.9692;MQ=47.58;MQ0=4;MQRankSum=7.261;QD=18.35;ReadPosRankSum=2.163;SB=-2889.94;TI=NM_000033;GI=ABCD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:56,181:239:99:4386,0,711:0.764:99 chrX 153010083 rs1055847 G A 4683.12 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.680;DP=288;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=22.1668;MQ=45.18;MQ0=4;MQRankSum=9.931;QD=16.26;ReadPosRankSum=0.233;SB=-3335.48;TI=NM_000033;GI=ABCD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:78,208:288:99:4683,0,1271:0.727:99 chrX 153010090 rs75637470 G A 1305.50 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.197;DP=291;Dels=0.00;FS=1.017;HRun=1;HaplotypeScore=15.5591;MQ=43.95;MQ0=8;MQRankSum=-9.828;QD=4.49;ReadPosRankSum=0.600;SB=-806.73;TI=NM_000033;GI=ABCD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:202,89:291:99:1335,0,4669:0.306:99 chrX 153010092 rs78155328 G A 1297.35 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=1.672;DP=288;Dels=0.00;FS=1.019;HRun=0;HaplotypeScore=16.3638;MQ=43.75;MQ0=8;MQRankSum=-10.285;QD=4.50;ReadPosRankSum=0.962;SB=-841.91;TI=NM_000033;GI=ABCD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:199,89:288:99:1327,0,4663:0.309:99 chrX 153010137 . C T 416.28 LowVariantFreq AC=1;AF=0.50;AN=2;BaseQRankSum=-0.886;DP=268;Dels=0.00;FS=0.638;HRun=0;HaplotypeScore=29.3054;MQ=44.86;MQ0=3;MQRankSum=-7.313;QD=1.55;ReadPosRankSum=-7.326;SB=-242.48;TI=NM_000033;GI=ABCD1;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:222,44:268:99:446,0,5122:0.165:99 chrX 153127529 . G T 22.83 LowVariantFreq;SB AC=1;AF=0.50;AN=2;BaseQRankSum=-1.483;DP=59;Dels=0.00;FS=11.792;HRun=0;HaplotypeScore=12.3467;MQ=48.24;MQ0=0;MQRankSum=-3.579;QD=0.39;ReadPosRankSum=-3.198;SB=-0.01;TI=NM_001143963,NM_000425,NM_024003;GI=L1CAM,L1CAM,L1CAM;FC=Silent,Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:54,5:59:52.80:53,0,1290:0.085:22 chrX 153292180 rs2734647 T C 2583.45 PASS AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7882;MQ=50.82;MQ0=0;QD=26.63;SB=-1645.68;TI=NM_004992;GI=MECP2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,97:97:99:2616,187,0:1.000:99 chrX 153293953 . T C 3828.87 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.709;DP=153;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=7.2228;MQ=43.77;MQ0=0;MQRankSum=0.034;QD=25.03;ReadPosRankSum=0.894;SB=-2788.97;TI=NM_004992;GI=MECP2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,152:153:99:3829,271,0:0.993:99 chrX 153294542 rs2853337 T C 3548.14 PASS AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7661;MQ=55.80;MQ0=0;QD=27.94;SB=-1744.43;TI=NM_004992;GI=MECP2;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,127:127:99:3548,259,0:1.000:99 chrX 153296112 . A G 21.17 LowGQ;SB;LowDP AC=1;AF=0.50;AN=2;BaseQRankSum=0.727;DP=4;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.4973;MQ=29.00;MQ0=0;MQRankSum=0.727;QD=5.29;ReadPosRankSum=0.727;SB=-0.01;TI=NM_004992,NM_001110792;GI=MECP2,MECP2;FC=Synonymous_P389P,Synonymous_P401P;EXON GT:AD:DP:GQ:PL:VF:GQX 0/1:1,3:4:18.65:51,0,19:0.750:18 chrX 153629155 rs4909;rs12012747;rs17091345 A G 2681.41 PASS AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9995;MQ=37.23;MQ0=46;QD=19.15;SB=-1392.20;TI=NM_006013,NR_026898;GI=RPL10,RPL10;FC=Missense_N202S,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:28,112:140:99:2714,202,0:0.800:99 chrX 153630255 rs12877 G C 1717.37 PASS AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.4701;MQ=56.43;MQ0=0;QD=29.61;SB=-980.64;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 1/1:0,58:58:99:1750,132,0:1.000:99 chrX 153630293 rs12559 C T 2716.03 PASS AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7602;MQ=51.51;MQ0=0;QD=29.52;SB=-1745.31;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 1/1:0,92:92:99:2749,202,0:1.000:99 chrX 153640060 rs11388353 CT C 2691.24 PASS AC=2;AF=1.00;AN=2;DP=62;FS=0.000;HRun=1;HaplotypeScore=42.6609;MQ=47.05;MQ0=0;QD=43.41;SB=-1277.75;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 1/1:0,62:62:99:2733,187,0:1.000:99 chrX 153649813 rs743547 G C 4073.20 PASS AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=6;HaplotypeScore=0.0000;MQ=48.91;MQ0=0;QD=26.11;SB=-2540.37;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 1/1:0,156:156:99:4073,292,0:1.000:99 chrX 153994596 rs2728532 G T 5872.19 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=1.703;DP=242;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.8976;MQ=47.50;MQ0=0;MQRankSum=-0.855;QD=24.27;ReadPosRankSum=-1.100;SB=-4420.50;TI=NM_001363,NM_001142463;GI=DKC1,DKC1;FC=Synonymous_T123T,Synonymous_T123T;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,240:242:99:5872,415,0:0.996:99 chrX 154064580 rs1396947 T C 2825.72 PASS AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2586;MQ=48.10;MQ0=0;QD=25.46;SB=-2017.91;TI=NM_019863,NM_000132;GI=F8,F8;FC=Silent,Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:0,110:111:99:2859,202,0:1.000:99 chrX 154158201 rs1800292 T G 3575.76 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=2.239;DP=145;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=10.9380;MQ=54.43;MQ0=0;MQRankSum=0.308;QD=24.66;ReadPosRankSum=0.296;SB=-2672.31;TI=NM_000132;GI=F8;FC=Synonymous_S1288S;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:4,141:145:99:3576,217,0:0.972:99 chrX 154488432 rs3105275 G A 2472.58 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=0.886;DP=86;Dels=0.00;FS=3.750;HRun=1;HaplotypeScore=5.4699;MQ=54.69;MQ0=0;MQRankSum=0.846;QD=28.75;ReadPosRankSum=1.571;SB=-1285.75;TI=NM_171998;GI=RAB39B;FC=Silent;EXON GT:AD:DP:GQ:PL:VF:GQX 1/1:1,85:86:99:2506,152,0:0.988:99