3 ##source=Platypus_Version_0.1.5
4 ##INFO=<ID=func,Number=1,Type=String,Description="Functional category: exnoic, intergenic etc">
5 ##INFO=<ID=gene,Number=2,Type=String,Description="RefSeq gene name">
6 ##INFO=<ID=exon_func,Number=1,Type=String,Description="Exonic function of the variant">
7 ##INFO=<ID=AAchange,Number=1,Type=String,Description="Amino Acid change">
8 ##INFO=<ID=cons46,Number=1,Type=String,Description="UCSC 46 species conservation score">
9 ##INFO=<ID=segdup,Number=1,Type=Float,Description="UCSC segment duplication score">
10 ##INFO=<ID=1000g,Number=1,Type=Float,Description="1000 genomes allelic frequency">
11 ##INFO=<ID=dbsnp,Number=1,Type=String,Description="dbSNP ID">
12 ##INFO=<ID=sift,Number=1,Type=Float,Description="SIFT score">
13 ##INFO=<ID=pp2,Number=1,Type=Float,Description="PolyPhen2 score">
14 ##INFO=<ID=phylop,Number=1,Type=Float,Description="Phylop score">
15 ##INFO=<ID=mutT,Number=1,Type=Float,Description="Mutation Taster score">
16 ##INFO=<ID=LRT,Number=1,Type=Float,Description="LRT score">
17 ##INFO=<ID=FR,Number=0,Type=Float,Description="Estimated population frequency">
18 ##INFO=<ID=RPV,Number=0,Type=Float,Description="Median minimum base quality for bases around variant">
19 ##INFO=<ID=RPV,Number=0,Type=Float,Description="Reverse strand p-value">
20 ##INFO=<ID=TCR,Number=0,Type=Integer,Description="Total reverse strand coverage at this locus">
21 ##INFO=<ID=HP,Number=1,Type=Integer,Description="Homopolmer run length">
22 ##INFO=<ID=ABPV,Number=0,Type=Float,Description="Allele-bias p-value. Testing for low variant coverage">
23 ##INFO=<ID=TR,Number=0,Type=Integer,Description="Total number of reads containing this variant">
24 ##INFO=<ID=PP,Number=0,Type=Float,Description="Posterior probability (phred scaled) that this variant segregates">
25 ##INFO=<ID=NF,Number=0,Type=Integer,Description="Total number of forward reads containing this variant">
26 ##INFO=<ID=SC,Number=1,Type=String,Description="Genomic sequence 10 bases either side of variant position">
27 ##INFO=<ID=FPV,Number=0,Type=Float,Description="Forward strand p-value">
28 ##INFO=<ID=TCF,Number=0,Type=Integer,Description="Total forward strand coverage at this locus">
29 ##INFO=<ID=NR,Number=0,Type=Integer,Description="Total number of reverse reads containing this variant">
30 ##INFO=<ID=RMP,Number=0,Type=Float,Description="RMS Position in reads of Variant">
31 ##INFO=<ID=TC,Number=0,Type=Integer,Description="Total coverage at this locus">
32 ##FILTER=<ID=sb,Description="Variant fails strand-bias filter">
33 ##FILTER=<ID=ab,Description="Variant fails allele-bias filter">
34 ##FILTER=<ID=badReads,Description="Variant supported only by reads with low quality bases close to variant position, and not present on both strands.">
35 ##FILTER=<ID=hp10,Description="Flanking sequence contains homopolymer of length 10 or greater">
36 ##FORMAT=<ID=GL,Number=.,Type=Float,Description="Genotype log-likelihoods (log10) for AA,AB and BB genotypes, where A = ref and B = variant. Only applicable for bi-allelic sites">
37 ##FORMAT=<ID=GT,Number=1,Type=String,Description="Unphased genotypes">
38 ##FORMAT=<ID=NR,Number=1,Type=Integer,Description="Number of reads covering variant in this sample">
39 ##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype quality, as Phred score">
40 ##FORMAT=<ID=GT:GL:GQ:NR,Number=.,Type=String,Description="(Undefined tag)">
41 #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT WTCHG_27173_05.bam WTCHG_27173_04.bam
42 chr1 1451489 . T C 103 PASS ABPV=1.00e+00;FPV=7.56e-01;FR=0.2501;HP=7;MMLQ=30;NF=2;NR=18;PP=103;RMP=57.54;RPV=1.00e-00;SC=CCGGTGTGGGTGGGGAGGCCG;TC=42;TCF=7;TCR=35;TR=20;func=intronic;gene=ATAD3A;segdup=0.91;1000g=0.36;dbsnp=rs76717221 GT:GL:GQ:NR 0/0:-43.28,-51.0,-125.34:35:18 1/0:-135.58,-103.29,-138.87:100:24
43 chr1 1451490 . G A 73 PASS ABPV=1.00e+00;FPV=9.29e-01;FR=0.2501;HP=3;MMLQ=30;NF=3;NR=16;PP=73;RMP=58.79;RPV=9.98e-01;SC=CGGTGTGGGTGGGGAGGCCGG;TC=42;TCF=7;TCR=35;TR=19;func=intronic;gene=ATAD3A;segdup=0.91;1000g=0.33;dbsnp=rs9439460 GT:GL:GQ:NR 0/0:-43.28,-50.99,-127.79:35:18 0/1:-135.58,-110.35,-146.87:100:24
44 chr1 12939904 . A C 109 PASS ABPV=1.00e+00;FPV=7.66e-01;FR=0.2500;HP=1;MMLQ=37;NF=22;NR=1;PP=109;RMP=45.66;RPV=4.46e-06;SC=ATTGTGAGGAACTTTAACGAG;TC=132;TCF=79;TCR=53;TR=23 GT:GL:GQ:NR 0/0:-40.31,-50.48,-301.89:45:53 0/1:-121.0,-87.39,-396.61:100:79
45 chr1 16902943 . T C 50 PASS ABPV=1.00e+00;FPV=2.90e-01;FR=0.2506;HP=2;MMLQ=34;NF=30;NR=18;PP=50;RMP=46.42;RPV=8.84e-01;SC=GGGTCAGCTCTCGTTCCTGAG;TC=191;TCF=133;TCR=58;TR=48 GT:GL:GQ:NR 0/0:-337.26,-342.92,-618.53:26:93 0/1:-428.71,-408.75,-668.15:84:98
46 chr1 16902982 . G T 41 PASS ABPV=1.00e+00;FPV=5.26e-02;FR=0.2500;HP=1;MMLQ=36;NF=29;NR=10;PP=41;RMP=55.68;RPV=1.90e-02;SC=ATTGCCTAAGGTGAGACGGTA;TC=223;TCF=152;TCR=71;TR=39 GT:GL:GQ:NR 0/0:-282.16,-293.75,-760.18:52:108 0/1:-308.83,-290.99,-786.16:75:115
47 chr1 16918180 . C T 200 PASS ABPV=1.00e+00;FPV=7.60e-05;FR=0.2500;HP=1;MMLQ=37;NF=8;NR=11;PP=200;RMP=57.84;RPV=6.15e-01;SC=TACTTTGGTACCTCTGTCTTC;TC=134;TCF=91;TCR=43;TR=19 GT:GL:GQ:NR 0/0:-48.3,-68.7,-289.28:90:47 0/1:-194.28,-132.13,-452.09:100:87
48 chr1 17083652 . C T 200 PASS ABPV=3.06e-02;FPV=6.38e-13;FR=0.2500;HP=2;MMLQ=36;NF=29;NR=3;PP=200;RMP=38.16;RPV=2.05e-02;SC=AAATCTCAACCTTGAGTACAA;TC=350;TCF=317;TCR=33;TR=32;func=ncRNA;gene=MST1P9;cons46=632 Name=lod=492;segdup=0.99;1000g=0.37;dbsnp=rs113710576 GT:GL:GQ:NR 0/0:-547.14,-559.85,-1017.76:56:159 0/1:-723.35,-656.42,-1167.76:100:191
49 chr1 17083776 . C A 79 PASS ABPV=1.08e-01;FPV=7.38e-01;FR=0.2500;HP=1;MMLQ=35;NF=1;NR=22;PP=79;RMP=76.99;RPV=1.13e-09;SC=CACAGAGACACGCGTGAAGAC;TC=238;TCF=4;TCR=234;TR=23;func=ncRNA;gene=MST1P9;cons46=632 Name=lod=492;segdup=0.99;1000g=0.20;dbsnp=rs56318124 GT:GL:GQ:NR 0/0:-442.45,-455.85,-790.66:59:121 0/1:-451.84,-425.21,-717.41:100:117
50 chr1 17575714 . G A 59 PASS ABPV=2.52e-01;FPV=3.10e-02;FR=0.2500;HP=1;MMLQ=31;NF=1;NR=4;PP=59;RMP=43.35;RPV=1.94e-02;SC=GACCCTCGTGGACATTTATGG;TC=58;TCF=19;TCR=39;TR=5 GT:GL:GQ:NR 0/0:-14.49,-33.87,-234.95:85:32 0/1:-39.36,-17.32,-168.9:93:26
51 chr1 21751228 . T TCGCGCCCGGC 66 PASS ABPV=3.86e-06;FPV=8.03e-37;FR=0.2500;HP=4;NF=1;NR=1;PP=66;RMP=15.56;RPV=1.98e-06;SC=CTCAAATGAGTAAAAGGCACT;TC=133;TCF=77;TCR=56;TR=2 GT:GL:GQ:NR 0/0:-178.34,-190.57,-398.5:54:72 0/1:-308.3,-271.14,-540.05:100:98
52 chr1 21755539 . C A 27 PASS ABPV=1.00e+00;FPV=9.84e-01;FR=0.2503;HP=1;MMLQ=31;NF=2;NR=1;PP=27;RMP=65.83;RPV=4.98e-02;SC=GGCCAACAACCGCCAGGTGCG;TC=20;TCF=3;TCR=17;TR=3;func=intergenic;gene=ECE1(dist=83505) NBPF3(dist=11092);cons46=807 Name=lod=2532;segdup=0.99;1000g=0.80;dbsnp=rs3855556 GT:GL:GQ:NR 0/0:0.0,-6.22,-62.68:28:10 1/0:-21.51,-6.92,-52.98:61:10
53 chr1 40798730 . A AT 59 PASS ABPV=1.00e+00;FPV=6.06e-01;FR=0.2504;HP=10;NF=7;NR=1;PP=59;RMP=50.29;RPV=7.38e-01;SC=GAAGTCTTCTATTTTTTTTTA;TC=28;TCF=24;TCR=4;TR=8;func=intergenic;gene=COL9A2(dist=15791) SMAP2(dist=40648);dbsnp=rs34372767 GT:GL:GQ:NR 0/0:0.0,-6.13,-39.37:28:12 0/1:-35.97,-10.49,-31.53:98:16
54 chr1 142803580 . TA T 145 PASS ABPV=1.00e+00;FPV=6.35e-02;FR=0.2500;HP=6;NF=1;NR=11;PP=145;RMP=65.89;RPV=8.29e-02;SC=TTCATAGATTTAAAAAATTAT;TC=81;TCF=16;TCR=65;TR=12 GT:GL:GQ:NR 0/0:-39.18,-49.93,-242.54:48:33 1/0:-80.12,-35.74,-249.72:100:48
55 chr1 144854799 . C T 50 PASS ABPV=1.00e+00;FPV=9.37e-01;FR=0.2504;HP=1;MMLQ=34;NF=1;NR=19;PP=50;RMP=60.89;RPV=9.86e-01;SC=GCCTCGGATACCTCCAGCTGA;TC=52;TCF=2;TCR=50;TR=20;func=intronic;gene=PDE4DIP;segdup=0.96;dbsnp=rs5004097 GT:GL:GQ:NR 0/0:-89.24,-95.22,-205.12:27:25 0/1:-177.25,-157.18,-246.67:85:27
56 chr1 145116027 . T C 127 PASS ABPV=1.00e+00;FPV=1.00e+00;FR=0.2501;HP=2;MMLQ=34;NF=0;NR=7;PP=127;RMP=54.07;RPV=5.14e-01;SC=AAAAGAGATGTCCTGAAAATG;TC=30;TCF=0;TCR=30;TR=7;func=UTR3;gene=SEC22B;cons46=340 Name=lod=32;1000g=0.45;dbsnp=rs7550440 GT:GL:GQ:NR 0/0:0.0,-7.61,-92.94:34:11 0/1:-56.84,-19.14,-106.99:100:19
57 chr1 146554532 . C T 57 PASS ABPV=1.00e+00;FPV=5.18e-01;FR=0.2501;HP=12;MMLQ=31;NF=4;NR=5;PP=57;RMP=66.19;RPV=4.68e-01;SC=CTTCTTCTTTCTTTTTTTTTA;TC=41;TCF=18;TCR=23;TR=9;func=intergenic;gene=LOC728989(dist=39933) PRKAB2(dist=72153);segdup=0.93;dbsnp=rs9662613 GT:GL:GQ:NR 0/0:-13.82,-21.42,-95.53:34:13 0/1:-131.76,-110.18,-223.87:91:28
58 chr1 148344564 . T C 34 PASS ABPV=3.69e-01;FPV=1.16e-03;FR=0.2500;HP=2;MMLQ=36;NF=24;NR=1;PP=34;RMP=22.65;RPV=1.98e-06;SC=TTCGTTCTTATTTCTCCCCGC;TC=218;TCF=162;TCR=56;TR=25 GT:GL:GQ:NR 0/0:-210.1,-224.84,-651.44:65:104 0/1:-232.74,-216.41,-586.14:69:114
59 chr1 148853862 . G T 37 PASS ABPV=3.79e-01;FPV=1.94e-02;FR=0.2500;HP=3;MMLQ=31;NF=6;NR=2;PP=37;RMP=50.34;RPV=2.58e-02;SC=CGCTCCTGGAGCCCAGCCCGG;TC=76;TCF=50;TCR=26;TR=8 GT:GL:GQ:NR 0/0:-247.75,-257.0,-317.61:41:35 1/0:-179.5,-162.62,-280.47:71:41
60 chr1 148854004 . C T 32 PASS ABPV=1.83e-01;FPV=3.17e-02;FR=0.2500;HP=1;MMLQ=34;NF=0;NR=3;PP=32;RMP=93.74;RPV=2.52e-02;SC=GCCCGCACTGCTGCAGCGCCC;TC=44;TCF=12;TCR=32;TR=3 GT:GL:GQ:NR 0/0:-75.02,-87.66,-197.34:56:26 1/0:-55.07,-39.25,-94.0:66:18
61 chr1 152187606 . G A 200 PASS ABPV=3.64e-01;FPV=4.08e-07;FR=0.2500;HP=2;MMLQ=32;NF=7;NR=16;PP=200;RMP=30.4;RPV=4.89e-02;SC=GAAGACTGACGGGAGCCAGAC;TC=202;TCF=109;TCR=93;TR=23;func=exonic;gene=HRNR;exon_func=nonsynonymous SNV;AAchange=NM_001009931:c.C6499T:p.R2167C;segdup=0.98;1000g=0.05;sift=0.2;pp2=0.269490;phylop=0.009549;mutT=0.062064;LRT=0.589002 GT:GL:GQ:NR 0/0:-190.82,-206.2,-650.62:68:98 0/1:-306.73,-239.37,-605.74:100:104
62 chr1 152281007 . A G 38 PASS ABPV=1.00e+00;FPV=2.01e-01;FR=0.2500;HP=1;MMLQ=31;NF=37;NR=62;PP=38;RMP=56.83;RPV=9.75e-01;SC=GCCTGATCATAATGGGATCCT;TC=370;TCF=169;TCR=201;TR=99 GT:GL:GQ:NR 0/0:-830.31,-842.03,-1695.93:52:178 0/1:-1104.87,-1087.65,-1851.72:72:192
63 chr1 152281008 . A G 56 PASS ABPV=1.00e+00;FPV=2.26e-01;FR=0.2500;HP=1;MMLQ=31;NF=37;NR=62;PP=56;RMP=57.69;RPV=9.75e-01;SC=CCTGATCATAATGGGATCCTT;TC=368;TCF=167;TCR=201;TR=99 GT:GL:GQ:NR 0/0:-836.29,-850.28,-1704.3:62:178 1/0:-1097.96,-1076.67,-1811.19:90:190
64 chr1 152281466 . C T 200 PASS ABPV=1.00e+00;FPV=3.99e-04;FR=0.2500;HP=2;MMLQ=33;NF=26;NR=66;PP=200;RMP=66.62;RPV=7.23e-01;SC=TGCCCGTGACCGGCTCTGTCT;TC=430;TCF=180;TCR=250;TR=92 GT:GL:GQ:NR 0/0:-912.94,-966.99,-1954.85:100:223 1/0:-939.3,-872.22,-1720.42:100:207
65 chr1 168549565 . T C 28 PASS ABPV=1.00e+00;FPV=1.00e+00;FR=0.2504;HP=2;MMLQ=37;NF=0;NR=8;PP=28;RMP=72.28;RPV=1.34e-01;SC=TCCTTATCAATCATGTCTTTC;TC=47;TCF=0;TCR=47;TR=8 GT:GL:GQ:NR 0/0:-27.57,-33.72,-167.32:28:21 1/0:-34.62,-19.62,-182.0:63:26
66 chr1 236647542 . G T 46 PASS ABPV=1.00e+00;FPV=9.99e-01;FR=0.2500;HP=3;MMLQ=34;NF=16;NR=40;PP=46;RMP=62.31;RPV=1.00e-00;SC=GTGCAAGCTGGCCCAGGCCAA;TC=104;TCF=32;TCR=72;TR=56 GT:GL:GQ:NR 0/0:-318.17,-328.23,-521.3:45:54 1/0:-498.22,-479.17,-572.27:80:50
67 chr1 236647562 . T C 73 PASS ABPV=1.00e+00;FPV=9.95e-01;FR=0.2503;HP=2;MMLQ=37;NF=11;NR=36;PP=73;RMP=64.25;RPV=1.00e-00;SC=ATGGTTGGTGTGTCATGGTGC;TC=85;TCF=23;TCR=62;TR=47 GT:GL:GQ:NR 0/0:-240.39,-246.81,-405.51:29:42 0/1:-421.95,-396.59,-483.66:100:43
68 chr1 236700807 . T A 130 PASS ABPV=1.00e+00;FPV=5.12e-01;FR=0.2502;HP=2;MMLQ=33;NF=8;NR=7;PP=130;RMP=47.87;RPV=8.70e-01;SC=GTAATCCCGTTTGTTGGCACC;TC=55;TCF=34;TCR=21;TR=15;func=exonic;gene=LGALS8;exon_func=nonsynonymous SNV;AAchange=NM_201544:c.T56A:p.F19Y;cons46=463 Name=lod=102;1000g=0.62;dbsnp=rs2737713;pp2=0.0;phylop=0.983932;mutT=4.6E-5;LRT=0.999982 GT:GL:GQ:NR 0/0:-41.35,-48.14,-183.02:31:21 0/1:-204.57,-166.19,-295.14:100:34
69 chr1 236700823 . T C 200 PASS ABPV=1.00e+00;FPV=6.24e-01;FR=0.2504;HP=2;MMLQ=32;NF=9;NR=8;PP=200;RMP=58.62;RPV=8.49e-01;SC=GCACCATTCCTGATCAGCTGG;TC=60;TCF=35;TCR=25;TR=17;func=exonic;gene=LGALS8;exon_func=synonymous SNV;AAchange=NM_201544:c.T72C:p.P24P;cons46=463 Name=lod=102;1000g=0.61;dbsnp=rs1041934 GT:GL:GQ:NR 0/0:-41.35,-47.43,-173.43:28:22 1/0:-232.08,-183.12,-325.41:100:38
70 chr1 241663902 . TGA T 37 PASS ABPV=2.57e-03;FPV=3.07e-05;FR=0.2507;HP=2;NF=0;NR=3;PP=37;RMP=44.45;RPV=2.39e-06;SC=TTTGAGTGAGTGAGAGAGAGA;TC=90;TCF=18;TCR=72;TR=3;func=intronic;gene=FH GT:GL:GQ:NR 0/0:-115.58,-120.99,-206.17:25:29 1/0:-208.1,-188.38,-347.52:83:62
71 chr10 52420020 . G A 135 PASS ABPV=1.00e+00;FPV=2.24e-01;FR=0.2502;HP=2;MMLQ=35;NF=3;NR=3;PP=135;RMP=58.04;RPV=7.75e-01;SC=GAGAACTTCCGGCTGCAGTAC;TC=30;TCF=20;TCR=10;TR=6 GT:GL:GQ:NR 0/0:-65.01,-71.52,-138.01:30:16 0/1:-83.86,-44.38,-74.93:100:14
72 chr10 118380701 . G A 77 PASS ABPV=1.00e+00;FPV=5.15e-01;FR=0.2503;HP=3;MMLQ=32;NF=5;NR=0;PP=77;RMP=22.32;RPV=5.62e-01;SC=CCGGGTTGCGGGGCGTCTGTT;TC=24;TCF=22;TCR=2;TR=5 GT:GL:GQ:NR 0/0:-4.14,-10.38,-77.71:28:10 0/1:-51.41,-25.11,-83.53:100:14
73 chr11 1651169 . T C 84 PASS ABPV=1.00e+00;FPV=9.98e-01;FR=0.2502;HP=2;MMLQ=33;NF=8;NR=26;PP=84;RMP=71.99;RPV=1.00e-00;SC=GCTGTGGCTCTGGCTGTGGGG;TC=71;TCF=14;TCR=57;TR=34;func=exonic;gene=KRTAP5-5;exon_func=synonymous SNV;AAchange=NM_001001480:c.T99C:p.S33S;1000g=0.29;dbsnp=rs71454095 GT:GL:GQ:NR 0/0:-199.38,-206.33,-365.55:31:38 0/1:-226.68,-198.86,-282.14:100:33
74 chr11 3431576 . G A 33 PASS ABPV=4.46e-01;FPV=4.99e-05;FR=0.2500;HP=1;MMLQ=30;NF=13;NR=10;PP=33;RMP=62.67;RPV=1.90e-02;SC=TCGTGTGTGAGTCCTACAGTG;TC=194;TCF=123;TCR=71;TR=23 GT:GL:GQ:NR 0/0:-71.93,-106.62,-693.75:100:102 1/0:-110.6,-94.58,-543.82:67:92
75 chr11 43918703 . C CTTTTCATATTAT 36 PASS ABPV=4.61e-02;FPV=1.12e-04;FR=0.2500;HP=3;NF=2;NR=0;PP=36;RMP=5.0;RPV=1.00e+00;SC=CTGACAGTGGCTTTATATATA;TC=49;TCF=49;TCR=0;TR=2 GT:GL:GQ:NR 0/0:-14.5,-34.6,-394.96:89:42 1/0:-47.66,-15.24,-223.69:100:36
76 chr11 48366812 . A C 48 PASS ABPV=1.00e+00;FPV=9.80e-01;FR=0.2502;HP=1;MMLQ=35;NF=16;NR=2;PP=48;RMP=45.69;RPV=1.00e+00;SC=AGATAATTGAATGTCCCAAGT;TC=44;TCF=42;TCR=2;TR=18 GT:GL:GQ:NR 0/0:-92.79,-99.69,-183.18:31:18 0/1:-133.87,-114.4,-228.26:82:26
77 chr11 48387506 . A G 48 PASS ABPV=1.00e+00;FPV=6.15e-01;FR=0.2500;HP=3;MMLQ=34;NF=28;NR=52;PP=48;RMP=59.69;RPV=1.00e-00;SC=AAATCCCCCGACCCATGCCAT;TC=227;TCF=109;TCR=118;TR=80;func=intergenic;gene=OR4C45(dist=13507) OR4A47(dist=122839);dbsnp=rs72898882;sift=0.42 GT:GL:GQ:NR 0/0:-665.75,-691.04,-1124.95:100:117 0/1:-697.01,-677.56,-1037.3:82:110
78 chr11 56143357 . G A 91 PASS ABPV=1.00e+00;FPV=9.70e-04;FR=0.2500;HP=3;MMLQ=36;NF=7;NR=60;PP=91;RMP=66.63;RPV=1.00e-00;SC=GGAATTTCTTGTACAAACAAA;TC=221;TCF=72;TCR=149;TR=67;func=exonic;gene=OR8U1 OR8U8;exon_func=synonymous SNV;AAchange=NM_001005204:c.G258A:p.L86L;dbsnp=rs76949582 GT:GL:GQ:NR 0/0:-538.52,-560.54,-1080.28:97:104 1/0:-924.01,-894.57,-1497.61:100:131
79 chr11 56468493 . A G 86 PASS ABPV=1.00e+00;FPV=1.31e-03;FR=0.2500;HP=1;MMLQ=30;NF=23;NR=16;PP=86;RMP=49.16;RPV=3.74e-01;SC=TCTGCCCCGCAGTGCTCATCC;TC=227;TCF=156;TCR=71;TR=39 GT:GL:GQ:NR 0/0:-212.22,-234.78,-819.52:99:105 0/1:-472.13,-443.86,-1063.46:100:122
80 chr11 92592540 . T G 22 PASS ABPV=9.72e-03;FPV=5.62e-02;FR=0.2501;HP=3;MMLQ=35;NF=0;NR=3;PP=22;RMP=99.66;RPV=8.62e-06;SC=GTTAGTGTTTTGGCTCTTGGA;TC=77;TCF=10;TCR=67;TR=3 GT:GL:GQ:NR 0/0:-302.47,-309.64,-322.1:32:36 0/1:-338.7,-325.07,-335.6:52:41
81 chr11 123504959 . C G 200 PASS ABPV=1.00e+00;FPV=4.20e-01;FR=0.2508;HP=2;MMLQ=40;NF=0;NR=7;PP=200;RMP=63.62;RPV=9.72e-01;SC=CAGTGCCCAGCGTGGGAACAC;TC=19;TCF=3;TCR=16;TR=7;func=intronic;gene=SCN3B;1000g=0.72;dbsnp=rs1148110 GT:GL:GQ:NR 0/0:-1.61,-6.93,-61.43:24:8 1/0:-66.0,-7.62,-36.11:100:11
82 chr12 92675 . C T 152 PASS ABPV=1.00e+00;FPV=7.38e-01;FR=0.2500;HP=1;MMLQ=37;NF=1;NR=7;PP=152;RMP=66.0;RPV=3.57e-01;SC=GGACTGTTTCCTGCTTGTAGC;TC=38;TCF=4;TCR=34;TR=8 GT:GL:GQ:NR 0/0:-41.61,-49.75,-120.62:37:14 1/0:-68.65,-25.34,-113.9:100:24
83 chr12 11183642 . A G 154 PASS ABPV=1.00e+00;FPV=8.37e-01;FR=0.2500;HP=1;MMLQ=34;NF=47;NR=62;PP=154;RMP=57.25;RPV=1.00e-00;SC=GCTAGTAGCAAGCCAGTTGCT;TC=311;TCF=168;TCR=143;TR=109;func=exonic;gene=TAS2R31;exon_func=nonsynonymous SNV;AAchange=NM_176885:c.T293C:p.L98P;segdup=0.93;dbsnp=rs73049067 GT:GL:GQ:NR 0/0:-561.52,-579.71,-1246.3:80:152 0/1:-826.02,-782.04,-1401.37:100:159
84 chr12 29908580 . A ATTGTT 200 PASS ABPV=1.00e+00;FPV=9.78e-01;FR=0.2507;HP=3;NF=10;NR=0;PP=200;RMP=36.19;RPV=1.00e+00;SC=TTTGGAAACTATTAAGTAATT;TC=24;TCF=24;TCR=0;TR=10;func=intronic;gene=TMTC1;dbsnp=rs3830194 GT:GL:GQ:NR 0/0:0.0,-5.55,-96.69:25:9 1/0:-151.5,-15.23,-76.28:100:17
85 chr12 31282765 . A T 21 PASS ABPV=1.00e+00;FPV=8.68e-01;FR=0.2502;HP=2;MMLQ=35;NF=12;NR=5;PP=21;RMP=46.72;RPV=8.51e-01;SC=AATGAATACAAATTTTTTCAT;TC=53;TCF=38;TCR=15;TR=17 GT:GL:GQ:NR 0/0:-83.08,-89.72,-221.87:30:27 1/0:-63.64,-50.39,-170.59:55:26
86 chr12 52843779 . T C 52 PASS ABPV=1.00e+00;FPV=1.21e-05;FR=0.2500;HP=4;MMLQ=20;NF=8;NR=16;PP=52;RMP=64.54;RPV=6.52e-01;SC=TTTGAACCCCTGGCTTCATCT;TC=161;TCF=100;TCR=61;TR=24;func=intronic;gene=KRT6B;segdup=0.93;dbsnp=rs380379 GT:GL:GQ:NR 0/0:-109.82,-139.81,-567.08:100:82 0/1:-186.27,-165.75,-481.84:87:79
87 chr12 65471467 . A G 200 PASS ABPV=1.00e+00;FPV=6.42e-01;FR=0.2501;HP=2;MMLQ=36;NF=7;NR=0;PP=200;RMP=38.97;RPV=4.22e-01;SC=TGCATCTTAAATATTCTTATC;TC=30;TCF=27;TCR=3;TR=7;func=intronic;gene=WIF1;1000g=0.27;dbsnp=rs2289936 GT:GL:GQ:NR 0/0:0.0,-7.62,-98.02:34:12 1/0:-69.82,-23.48,-105.09:100:18
88 chr12 99175091 . AAC A 86 PASS ABPV=3.61e-01;FPV=7.09e-04;FR=0.2503;HP=1;NF=4;NR=0;PP=86;RMP=34.87;RPV=9.95e-03;SC=AAACAACAACAACACACACAC;TC=43;TCF=27;TCR=16;TR=4;func=intronic;gene=ANKS1B GT:GL:GQ:NR 0/0:-4.37,-10.61,-100.0:28:17 0/1:-72.08,-41.09,-136.47:100:27
89 chr12 104378526 . G GACACAGAAACT 200 PASS ABPV=2.37e-01;FPV=8.53e-03;FR=0.2500;HP=1;NF=5;NR=0;PP=200;RMP=8.25;RPV=5.63e-02;SC=TGTGATTCTAGCTCTGCTATG;TC=59;TCF=49;TCR=10;TR=5 GT:GL:GQ:NR 0/0:0.0,-15.25,-297.25:67:32 1/0:-137.95,-64.82,-429.82:100:44
90 chr13 25169091 . A G 41 PASS ABPV=1.00e+00;FPV=1.23e-02;FR=0.2501;HP=3;MMLQ=35;NF=18;NR=1;PP=41;RMP=17.52;RPV=3.10e-02;SC=AATAACCAAAACAGTTTTTTA;TC=133;TCF=114;TCR=19;TR=19 GT:GL:GQ:NR 0/0:-140.13,-147.81,-405.22:35:57 0/1:-204.4,-186.51,-512.07:75:76
91 chr13 37795039 . G T 20 PASS ABPV=5.69e-01;FPV=5.25e-01;FR=0.2502;HP=1;MMLQ=40;NF=2;NR=0;PP=20;RMP=33.0;RPV=7.49e-02;SC=TCCTTGGCCTGAGCTTCTTTG;TC=19;TCF=10;TCR=9;TR=2 GT:GL:GQ:NR 0/0:0.0,-6.93,-89.94:31:11 1/0:-22.03,-9.0,-57.23:54:8
92 chr13 100517209 . G A 21 PASS ABPV=2.00e-01;FPV=2.14e-03;FR=0.2500;HP=2;MMLQ=35;NF=6;NR=7;PP=21;RMP=94.07;RPV=9.71e-04;SC=GTGTGTGTGTGTATATGTGTG;TC=134;TCF=62;TCR=72;TR=13 GT:GL:GQ:NR 0/0:-265.23,-279.13,-623.6:62:70 1/0:-308.0,-294.6,-524.58:56:64
93 chr13 114540947 . C CTCTGCTCTT 45 PASS ABPV=1.42e-01;FPV=3.34e-03;FR=0.2500;HP=2;NF=2;NR=0;PP=45;RMP=1.0;RPV=5.62e-01;SC=CCACAGGAACCCAGCCAGCAG;TC=37;TCF=35;TCR=2;TR=2 GT:GL:GQ:NR 0/0:0.0,-11.09,-214.96:49:19 1/0:-74.37,-43.34,-288.0:100:27
94 chr14 19118192 . A G 200 PASS ABPV=1.00e+00;FPV=1.32e-05;FR=0.2507;HP=2;MMLQ=32;NF=68;NR=76;PP=200;RMP=53.85;RPV=5.74e-02;SC=TGCTTGCCATATGTCATGGAT;TC=771;TCF=415;TCR=356;TR=144;func=intergenic;gene=NONE(dist=NONE) OR11H12(dist=259402);segdup=0.96;dbsnp=rs77434589 GT:GL:GQ:NR 0/0:-730.61,-736.03,-2441.78:25:349 1/0:-997.51,-891.65,-2847.93:100:422
95 chr14 19500081 . A G 22 PASS ABPV=1.00e+00;FPV=1.61e-01;FR=0.2505;HP=3;MMLQ=22;NF=3;NR=0;PP=22;RMP=47.77;RPV=1.00e+00;SC=GGTGCACACCACTGTGGACGT;TC=22;TCF=22;TCR=0;TR=3 GT:GL:GQ:NR 0/0:-15.46,-21.36,-64.18:27:10 0/1:-27.84,-14.25,-57.82:57:12
96 chr14 20137380 . C T 33 PASS ABPV=1.24e-02;FPV=1.12e-09;FR=0.2500;HP=1;MMLQ=31;NF=8;NR=17;PP=33;RMP=61.98;RPV=3.46e-06;SC=TCACTGCCCTCGCCGCATGCA;TC=303;TCF=142;TCR=161;TR=25 GT:GL:GQ:NR 0/0:-373.48,-389.86,-1035.03:72:144 0/1:-475.48,-459.41,-1121.57:68:159
97 chr14 64496872 . G C 96 PASS ABPV=1.00e+00;FPV=1.00e+00;FR=0.2503;HP=1;MMLQ=37;NF=0;NR=4;PP=96;RMP=55.12;RPV=5.17e-01;SC=AGAAATTCCAGTGGTATTCAG;TC=18;TCF=0;TCR=18;TR=4;func=intronic;gene=SYNE2;1000g=0.90;dbsnp=rs3866737 GT:GL:GQ:NR 0/0:0.0,-6.24,-83.73:28:9 0/1:-36.8,-6.24,-45.77:100:9
98 chr14 106881425 . A G 71 PASS ABPV=1.00e+00;FPV=1.15e-01;FR=0.2500;HP=1;MMLQ=32;NF=4;NR=10;PP=71;RMP=49.71;RPV=2.88e-01;SC=CCATCCACTCAAGCCCTTGTC;TC=78;TCF=29;TCR=49;TR=14 GT:GL:GQ:NR 0/0:-39.35,-48.57,-258.02:41:30 1/0:-231.62,-206.72,-399.17:100:48
99 chr14 106881452 . T C 66 PASS ABPV=1.00e+00;FPV=3.03e-01;FR=0.2509;HP=1;MMLQ=27;NF=3;NR=10;PP=66;RMP=65.33;RPV=1.89e-01;SC=CTGGTCACACTGAATTCATAC;TC=71;TCF=18;TCR=53;TR=13 GT:GL:GQ:NR 0/0:-57.13,-62.37,-258.3:24:30 0/1:-168.08,-144.38,-338.93:100:41
100 chr14 107034967 . T C 105 PASS ABPV=1.00e+00;FPV=6.54e-01;FR=0.2500;HP=1;MMLQ=34;NF=6;NR=9;PP=105;RMP=58.51;RPV=6.64e-01;SC=ACAGGAGATCTTCAGAGACTC;TC=57;TCF=23;TCR=34;TR=15 GT:GL:GQ:NR 0/0:-163.23,-172.19,-255.57:40:20 1/0:-379.46,-346.84,-445.34:100:39
101 chr15 20083754 . G A 54 PASS ABPV=1.00e+00;FPV=5.67e-01;FR=0.2500;HP=2;MMLQ=36;NF=33;NR=5;PP=54;RMP=47.07;RPV=4.22e-01;SC=AAATCATTATGTGCTTTGAGA;TC=155;TCF=131;TCR=24;TR=38 GT:GL:GQ:NR 0/0:-122.79,-137.29,-483.11:64:64 1/0:-176.25,-155.43,-655.46:88:91
102 chr15 20446256 . G C 57 PASS ABPV=1.00e+00;FPV=1.00e+00;FR=0.2500;HP=2;MMLQ=34;NF=1;NR=7;PP=57;RMP=71.88;RPV=4.32e-01;SC=CATGCAAGAAGCTGGAAAGCC;TC=33;TCF=1;TCR=32;TR=8;func=intergenic;gene=NONE(dist=NONE) LOC646096(dist=41741);segdup=0.97;dbsnp=rs3907011 GT:GL:GQ:NR 0/0:-13.82,-23.14,-131.81:42:16 0/1:-45.04,-23.56,-104.26:91:17
103 chr15 20875055 . C G 154 PASS ABPV=1.00e+00;FPV=7.50e-01;FR=0.2504;HP=3;MMLQ=37;NF=0;NR=12;PP=154;RMP=60.19;RPV=1.71e-01;SC=AATTTAAACGCAAATTAGTAA;TC=64;TCF=1;TCR=63;TR=12;func=ncRNA;gene=NBEAP1;segdup=0.93;1000g=0.26;dbsnp=rs7496378 GT:GL:GQ:NR 0/0:-9.2,-15.25,-188.16:27:22 0/1:-137.96,-94.13,-342.43:100:42
104 chr15 20875100 . A G 21 PASS ABPV=1.00e+00;FPV=7.50e-01;FR=0.2502;HP=4;MMLQ=35;NF=0;NR=6;PP=21;RMP=81.39;RPV=2.77e-01;SC=AGAGGTTAAAAATAACTTTCT;TC=33;TCF=1;TCR=32;TR=6;func=ncRNA;gene=NBEAP1;cons46=243 Name=lod=13;segdup=0.93;1000g=0.28;dbsnp=rs7497715 GT:GL:GQ:NR 0/0:-7.83,-14.75,-92.12:31:10 1/0:-92.65,-79.35,-211.07:56:23
105 chr15 21140945 . C T 26 PASS ABPV=1.00e+00;FPV=1.00e-01;FR=0.2506;HP=2;MMLQ=33;NF=1;NR=3;PP=26;RMP=65.04;RPV=7.12e-01;SC=ACATGTACAGCGCCACACTTC;TC=25;TCF=14;TCR=11;TR=4;func=intergenic;gene=NF1P2(dist=6320) LOC348120(dist=4822);cons46=679 Name=lod=765;segdup=1.00;1000g=0.24;dbsnp=rs12324229 GT:GL:GQ:NR 0/0:-16.95,-22.6,-60.18:26:13 0/1:-36.66,-22.19,-44.85:61:12
106 chr15 28900400 . G T 133 PASS ABPV=1.00e+00;FPV=6.31e-01;FR=0.2502;HP=3;MMLQ=34;NF=14;NR=0;PP=133;RMP=36.99;RPV=4.21e-01;SC=GCTTGTCATTGTAAATTTTCT;TC=57;TCF=54;TCR=3;TR=14 GT:GL:GQ:NR 0/0:-26.38,-32.94,-192.24:30:27 1/0:-71.34,-32.36,-180.89:100:30
107 chr15 75656200 . G A 75 PASS ABPV=1.00e+00;FPV=6.28e-01;FR=0.2507;HP=6;MMLQ=37;NF=4;NR=0;PP=75;RMP=47.43;RPV=1.00e+00;SC=CCAGCCCCCCGGCCCCGTTTT;TC=16;TCF=16;TCR=0;TR=4 GT:GL:GQ:NR 0/0:-7.14,-12.68,-76.44:25:8 0/1:-34.75,-8.99,-31.71:100:8
108 chr15 76075732 . A C 29 PASS ABPV=1.00e+00;FPV=9.97e-01;FR=0.2501;HP=2;MMLQ=34;NF=11;NR=15;PP=29;RMP=61.41;RPV=9.58e-01;SC=ATCCCTATCTATCCAGGCCTT;TC=64;TCF=22;TCR=42;TR=26 GT:GL:GQ:NR 0/0:-89.15,-96.33,-237.9:32:31 1/0:-134.14,-119.09,-238.26:63:33
109 chr15 100340178 . C G 52 PASS ABPV=1.00e+00;FPV=1.76e-01;FR=0.2500;HP=1;MMLQ=31;NF=5;NR=5;PP=52;RMP=87.78;RPV=1.32e-01;SC=AGTGTCTTCTCGTTCCCACGC;TC=64;TCF=31;TCR=33;TR=10;func=ncRNA;gene=DNM1P46;cons46=699 Name=lod=923;segdup=0.97;sift=0.27 GT:GL:GQ:NR 0/0:-139.12,-149.96,-310.47:37:36 1/0:-206.67,-186.19,-317.68:87:38
110 chr15 102303399 . C T 65 PASS ABPV=1.00e+00;FPV=4.32e-02;FR=0.2500;HP=2;MMLQ=34;NF=5;NR=30;PP=65;RMP=65.58;RPV=1.00e-00;SC=AGAGCTGCTGCCCAACCTGCA;TC=90;TCF=40;TCR=50;TR=35;func=intergenic;gene=TARSL2(dist=38754) OR4F6(dist=42524);cons46=920 Name=lod=7327;segdup=0.98;1000g=0.50;dbsnp=rs71416239 GT:GL:GQ:NR 0/0:-129.26,-138.34,-250.21:41:46 0/1:-118.78,-95.27,-224.48:100:44
111 chr15 102506389 . C T 50 PASS ABPV=6.29e-01;FPV=1.27e-01;FR=0.2500;HP=1;MMLQ=34;NF=1;NR=3;PP=50;RMP=67.19;RPV=2.63e-01;SC=GGATGCCCTGCAGTACCTGCA;TC=32;TCF=13;TCR=19;TR=4 GT:GL:GQ:NR 0/0:-3.9,-15.65,-133.88:52:17 0/1:-31.25,-11.29,-72.06:84:15
112 chr16 9250260 . T G 22 PASS ABPV=1.00e+00;FPV=1.00e-02;FR=0.2500;HP=2;MMLQ=29;NF=0;NR=4;PP=22;RMP=37.36;RPV=8.85e-01;SC=CACCTATTATTCCATGAATTC;TC=27;TCF=16;TCR=11;TR=4;func=intergenic;gene=C16orf72(dist=36705) MIR548X(dist=78514);cons46=749 Name=lod=1471;1000g=0.73;dbsnp=rs12929693 GT:GL:GQ:NR 0/0:-1.84,-10.83,-100.69:40:14 0/1:-25.85,-12.37,-70.66:56:13
113 chr16 21747662 . G A 36 PASS ABPV=1.00e+00;FPV=2.01e-01;FR=0.2500;HP=1;MMLQ=34;NF=16;NR=6;PP=36;RMP=40.34;RPV=5.40e-05;SC=CTGTCTTTCAGTCTGTTCGGA;TC=159;TCF=79;TCR=80;TR=22 GT:GL:GQ:NR 0/0:-69.29,-88.69,-470.14:85:75 1/0:-171.53,-154.82,-534.35:70:84
114 chr16 28618446 . T C 36 PASS ABPV=1.00e+00;FPV=8.61e-01;FR=0.2500;HP=3;MMLQ=32;NF=6;NR=14;PP=36;RMP=63.74;RPV=5.40e-01;SC=ACACAGCCTGTCCCAGGCCAG;TC=75;TCF=18;TCR=57;TR=20 GT:GL:GQ:NR 0/0:-33.24,-41.67,-205.86:38:27 0/1:-113.92,-97.17,-312.83:70:48
115 chr16 33390329 . G C 24 PASS ABPV=6.16e-01;FPV=4.32e-02;FR=0.2500;HP=2;MMLQ=34;NF=5;NR=0;PP=24;RMP=54.47;RPV=1.00e+00;SC=TTAGAAACAGGTTCACAATTG;TC=40;TCF=40;TCR=0;TR=5;func=intergenic;gene=LOC390705(dist=91627) LINC00273(dist=570723);segdup=0.97;1000g=0.32;dbsnp=rs12232434 GT:GL:GQ:NR 0/0:-6.09,-14.55,-170.95:38:21 0/1:-47.14,-33.16,-147.34:58:19
116 chr16 33401967 . G A 116 PASS ABPV=1.00e+00;FPV=1.64e-02;FR=0.2500;HP=2;MMLQ=34;NF=16;NR=15;PP=116;RMP=51.2;RPV=2.96e-01;SC=GAGGTCTGCCGACAGCTGCAC;TC=172;TCF=102;TCR=70;TR=31;func=intergenic;gene=LOC390705(dist=103265) LINC00273(dist=559085);cons46=611 Name=lod=406;segdup=0.97;dbsnp=rs8047578 GT:GL:GQ:NR 0/0:-133.55,-144.14,-490.22:47:76 1/0:-209.17,-173.99,-648.51:100:96
117 chr16 33407954 . C G 34 PASS ABPV=1.00e+00;FPV=4.21e-01;FR=0.2507;HP=3;MMLQ=34;NF=0;NR=3;PP=34;RMP=61.08;RPV=5.19e-01;SC=GAAATTGTCTCGGGCCTGAAG;TC=17;TCF=3;TCR=14;TR=3 GT:GL:GQ:NR 0/0:-10.82,-16.36,-77.44:25:9 1/0:-63.55,-47.37,-59.15:58:8
118 chr16 46405120 . C G 37 PASS ABPV=3.94e-02;FPV=4.07e-03;FR=0.2510;HP=2;MMLQ=40;NF=2;NR=1;PP=37;RMP=51.27;RPV=3.18e-03;SC=CGATTCCATTCGATAATGATT;TC=62;TCF=34;TCR=28;TR=3 GT:GL:GQ:NR 0/0:-129.24,-134.38,-161.33:24:28 0/1:-205.7,-188.69,-196.8:42:34
119 chr16 58148083 . C CACACGCAGGTACA 31 PASS ABPV=1.69e-01;FPV=1.00e+00;FR=0.2500;HP=2;NF=0;NR=2;PP=31;RMP=88.0;RPV=3.34e-03;SC=CAGGGAAGCACCCACCCTTGT;TC=35;TCF=0;TCR=35;TR=2 GT:GL:GQ:NR 0/0:-11.28,-21.68,-223.8:46:16 0/1:-62.86,-30.44,-243.59:100:20
120 chr17 5036281 . G C 48 PASS ABPV=1.00e+00;FPV=8.00e-01;FR=0.2500;HP=1;MMLQ=32;NF=14;NR=49;PP=48;RMP=47.67;RPV=9.22e-01;SC=AAGCACAGTAGCAAAGTAATG;TC=214;TCF=48;TCR=166;TR=63 GT:GL:GQ:NR 0/0:-506.02,-514.23,-1090.2:37:117 0/1:-460.03,-440.62,-871.14:82:97
121 chr17 6328747 . T G 200 PASS ABPV=1.00e+00;FPV=8.77e-01;FR=0.2507;HP=4;MMLQ=32;NF=8;NR=5;PP=200;RMP=59.22;RPV=9.45e-01;SC=GGCCACTTGCTCCCTGCCTGG;TC=36;TCF=24;TCR=12;TR=13 GT:GL:GQ:NR 0/0:-4.84,-10.37,-69.24:25:8 0/1:-116.1,-23.7,-86.84:100:28
122 chr17 14140191 . G A 125 PASS ABPV=1.00e+00;FPV=3.98e-02;FR=0.2500;HP=1;MMLQ=34;NF=2;NR=11;PP=125;RMP=71.76;RPV=3.84e-02;SC=AGCTGTTTACGGCGCTGACTC;TC=95;TCF=24;TCR=71;TR=13;func=upstream;gene=CDRT15;segdup=0.99;1000g=0.17;dbsnp=rs28533558 GT:GL:GQ:NR 0/0:-146.51,-156.3,-338.05:44:40 0/1:-162.79,-125.58,-384.62:100:55
123 chr17 21904955 . G A 29 PASS ABPV=1.46e-01;FPV=3.00e-01;FR=0.2500;HP=2;MMLQ=33;NF=1;NR=7;PP=29;RMP=77.08;RPV=5.90e-05;SC=GTGGCACGGCGCTGTATCCTG;TC=95;TCF=9;TCR=86;TR=8 GT:GL:GQ:NR 0/0:-95.23,-110.26,-302.39:67:42 0/1:-104.15,-88.94,-334.7:64:53
124 chr17_gl000205_random 114392 . G GC 200 PASS ABPV=1.00e+00;FPV=1.00e+00;FR=0.2503;HP=1;NF=1;NR=9;PP=200;RMP=62.13;RPV=8.86e-01;SC=GAGCTTCTATGAGGCGTGGGG;TC=28;TCF=1;TCR=27;TR=10;func=intergenic;gene=NONE(dist=NONE) MGC70870(dist=2231) GT:GL:GQ:NR 0/0:0.0,-6.24,-93.01:28:9 0/1:-137.06,-63.68,-124.76:100:19
125 chr17_gl000205_random 118186 . TCGC T 157 PASS ABPV=1.00e+00;FPV=4.85e-02;FR=0.2506;HP=1;NF=4;NR=5;PP=157;RMP=51.77;RPV=1.51e-01;SC=CCATCATAAGTCGCATCCCGG;TC=55;TCF=23;TCR=32;TR=9;func=ncRNA;gene=MGC70870;cons46=824 Name=lod=2972;segdup=0.90 GT:GL:GQ:NR 0/0:-80.93,-86.51,-246.22:26:23 0/1:-151.92,-104.34,-309.99:100:34
126 chr17_gl000205_random 118289 . G A 30 PASS ABPV=1.00e+00;FPV=2.43e-02;FR=0.2500;HP=1;MMLQ=38;NF=1;NR=4;PP=30;RMP=51.3;RPV=5.18e-01;SC=TGAGCTCAGTGGTGCTACCTA;TC=38;TCF=20;TCR=18;TR=5 GT:GL:GQ:NR 0/0:-92.27,-100.53,-170.2:37:15 0/1:-193.59,-178.31,-262.43:64:23
127 chr17_gl000205_random 122791 . T C 124 PASS ABPV=1.00e+00;FPV=6.72e-01;FR=0.2504;HP=1;MMLQ=34;NF=8;NR=0;PP=124;RMP=54.5;RPV=1.00e+00;SC=GATATAAACTTCTAAAATTCA;TC=30;TCF=30;TCR=0;TR=8;func=intergenic;gene=MGC70870(dist=3059) NONE(dist=NONE) GT:GL:GQ:NR 0/0:-33.82,-39.98,-100.64:28:10 1/0:-177.82,-140.79,-190.46:100:20
128 chr18 14183747 . T C 115 PASS ABPV=1.00e+00;FPV=9.72e-01;FR=0.2500;HP=5;MMLQ=36;NF=49;NR=88;PP=115;RMP=54.47;RPV=9.86e-01;SC=ACAAAGAAAATAGAACGCCTT;TC=444;TCF=156;TCR=288;TR=137 GT:GL:GQ:NR 0/0:-919.95,-948.86,-1765.89:100:211 0/1:-1189.4,-1154.37,-1918.79:100:233
129 chr19 3611146 . A G 30 PASS ABPV=1.00e+00;FPV=5.15e-01;FR=0.2501;HP=1;MMLQ=24;NF=6;NR=1;PP=30;RMP=42.3;RPV=2.44e-01;SC=CCCTGTGCTCAGAGGTGGGGG;TC=36;TCF=26;TCR=10;TR=7;func=ncRNA;gene=C19orf29-AS1;1000g=0.56;dbsnp=rs2074786 GT:GL:GQ:NR 0/0:-27.63,-35.13,-121.04:34:15 0/1:-69.97,-54.53,-137.67:65:21
130 chr19 12543121 . C G 200 PASS ABPV=1.00e+00;FPV=7.14e-01;FR=0.2502;HP=7;MMLQ=40;NF=11;NR=0;PP=200;RMP=33.87;RPV=7.50e-01;SC=TTCTTTGCTTCTTTTTAAATT;TC=41;TCF=40;TCR=1;TR=11;func=intronic;gene=ZNF443;segdup=0.96;dbsnp=rs74181652 GT:GL:GQ:NR 0/0:-8.47,-15.46,-153.74:32:20 0/1:-71.21,-15.46,-97.4:100:21
131 chr19 15014189 . T C 90 PASS ABPV=1.00e+00;FPV=1.97e-01;FR=0.2500;HP=4;MMLQ=100;NF=2;NR=5;PP=90;RMP=90.56;RPV=4.68e-01;SC=GAGTGAGTTGTGGGTTGCAGC;TC=39;TCF=16;TCR=23;TR=7 GT:GL:GQ:NR 0/0:-190.71,-200.49,-255.11:44:24 1/0:-174.95,-145.84,-178.61:100:15
132 chr19 41515263 . A G 88 PASS ABPV=3.76e-01;FPV=1.82e-01;FR=0.2500;HP=2;MMLQ=33;NF=7;NR=3;PP=88;RMP=64.16;RPV=2.48e-04;SC=AGCGCCCCCAAGGACCTCATC;TC=93;TCF=40;TCR=53;TR=10;func=exonic;gene=CYP2B6;exon_func=nonsynonymous SNV;AAchange=NM_000767:c.A785G:p.K262R;segdup=0.92;1000g=0.20;dbsnp=rs2279343;pp2=0.0;phylop=0.086093;mutT=1.0E-6;LRT=0.999974 GT:GL:GQ:NR 0/0:-4.81,-28.32,-273.38:100:41 0/1:-65.82,-37.11,-263.4:100:52
133 chr19 42188037 . C T 114 PASS ABPV=1.00e+00;FPV=6.06e-02;FR=0.2500;HP=4;MMLQ=34;NF=2;NR=8;PP=114;RMP=98.9;RPV=1.54e-02;SC=GTGTGGCCCCCTTGGTTCCCC;TC=73;TCF=11;TCR=62;TR=10 GT:GL:GQ:NR 0/0:-205.49,-214.25,-251.15:29:29 0/1:-379.34,-343.91,-357.8:15:44
134 chr19 50474708 . T G 61 PASS ABPV=1.00e+00;FPV=7.17e-01;FR=0.2501;HP=2;MMLQ=30;NF=5;NR=1;PP=61;RMP=67.96;RPV=3.09e-02;SC=CTGGGCTCAGTGTCCCAGAGC;TC=37;TCF=18;TCR=19;TR=6 GT:GL:GQ:NR 0/0:-86.34,-93.74,-137.77:33:15 0/1:-129.81,-107.4,-147.05:95:22
135 chr19 52977823 . A G 102 PASS ABPV=1.00e+00;FPV=3.15e-01;FR=0.2507;HP=2;MMLQ=35;NF=0;NR=4;PP=102;RMP=41.58;RPV=8.84e-01;SC=GTTTCTCTCCAGTATGAATTC;TC=15;TCF=4;TCR=11;TR=4;func=intronic;gene=ZNF578;cons46=395 Name=lod=54;1000g=0.94;dbsnp=rs1673901 GT:GL:GQ:NR 0/0:0.0,-5.54,-65.87:25:9 1/0:-36.12,-4.16,-18.86:71:6
136 chr19 54726711 . G T 43 PASS ABPV=1.00e+00;FPV=1.00e-00;FR=0.2504;HP=3;MMLQ=31;NF=22;NR=2;PP=43;RMP=52.84;RPV=6.78e-01;SC=GTCCCCGCCCGGGTGCCTCCT;TC=53;TCF=45;TCR=8;TR=24 GT:GL:GQ:NR 0/0:-47.88,-54.03,-95.64:28:18 1/0:-164.89,-146.64,-206.88:77:35
137 chr2 905553 . G C 76 PASS ABPV=1.62e-02;FPV=5.75e-08;FR=0.2500;HP=2;MMLQ=31;NF=1;NR=7;PP=76;RMP=95.73;RPV=1.04e-02;SC=GCCTGCACTGGGTCTGGTGTT;TC=128;TCF=69;TCR=59;TR=8 GT:GL:GQ:NR 0/0:-314.19,-325.21,-450.94:49:57 0/1:-390.34,-364.48,-513.78:100:71
138 chr2 905595 . G C 24 PASS ABPV=1.21e-01;FPV=1.79e-02;FR=0.2500;HP=2;MMLQ=35;NF=5;NR=1;PP=24;RMP=13.0;RPV=6.96e-04;SC=GCCTGCACTGGGTCTGGTGTT;TC=79;TCF=45;TCR=34;TR=6 GT:GL:GQ:NR 0/0:-210.22,-219.58,-290.19:42:42 1/0:-197.49,-183.47,-250.46:59:38
139 chr2 91885842 . G A 37 PASS ABPV=1.00e+00;FPV=2.46e-01;FR=0.2502;HP=1;MMLQ=36;NF=4;NR=0;PP=37;RMP=71.85;RPV=4.22e-01;SC=CCAACATTACGGAATTTGGAT;TC=27;TCF=24;TCR=3;TR=4 GT:GL:GQ:NR 0/0:-11.45,-18.39,-83.47:31:11 0/1:-59.01,-41.99,-86.53:72:16
140 chr2 96525556 . C T 37 PASS ABPV=1.00e+00;FPV=1.00e-00;FR=0.2503;HP=1;MMLQ=37;NF=60;NR=2;PP=37;RMP=45.25;RPV=9.49e-01;SC=TCTCCTTATACGTCTTTAATA;TC=91;TCF=87;TCR=4;TR=62 GT:GL:GQ:NR 0/0:-304.4,-310.82,-406.42:29:43 0/1:-411.62,-394.62,-459.09:72:48
141 chr2 107042620 . C T 45 PASS ABPV=1.00e+00;FPV=7.50e-01;FR=0.2500;HP=4;MMLQ=33;NF=0;NR=10;PP=45;RMP=77.64;RPV=2.94e-02;SC=GCAAGAGCTACAAATACAAAA;TC=69;TCF=1;TCR=68;TR=10;func=intronic;gene=RGPD3;cons46=333 Name=lod=30;segdup=0.99;dbsnp=rs2433787 GT:GL:GQ:NR 0/0:-9.17,-23.45,-154.19:63:21 1/0:-107.84,-88.96,-294.09:80:48
142 chr2 132860931 . G A 113 PASS ABPV=1.00e+00;FPV=5.61e-01;FR=0.2507;HP=1;MMLQ=38;NF=0;NR=8;PP=113;RMP=69.43;RPV=9.58e-01;SC=GAAGAATGTGGTAAAGCCTTT;TC=22;TCF=2;TCR=20;TR=8 GT:GL:GQ:NR 0/0:-12.66,-18.1,-56.72:25:9 1/0:-57.64,-23.24,-50.67:100:13
143 chr2 133020074 . G A 33 PASS ABPV=1.00e+00;FPV=9.94e-01;FR=0.2501;HP=2;MMLQ=36;NF=45;NR=12;PP=33;RMP=47.59;RPV=9.08e-01;SC=ATTTCAGAAGGGAAAATATCC;TC=167;TCF=131;TCR=36;TR=57;func=intergenic;gene=ANKRD30BL(dist=4532) GPR39(dist=154073);cons46=762 Name=lod=1662;segdup=0.91;dbsnp=rs111959326 GT:GL:GQ:NR 0/0:-698.84,-706.52,-798.38:35:80 1/0:-786.87,-770.7,-903.5:68:87
144 chr2 133020186 . T C 66 PASS ABPV=1.00e+00;FPV=1.55e-01;FR=0.2500;HP=1;MMLQ=34;NF=52;NR=51;PP=66;RMP=46.69;RPV=9.65e-01;SC=TAGCTTTGTGTTCATACCACT;TC=402;TCF=237;TCR=165;TR=103;func=intergenic;gene=ANKRD30BL(dist=4644) GPR39(dist=153961);cons46=762 Name=lod=1662;segdup=0.91;dbsnp=rs112259198 GT:GL:GQ:NR 0/0:-1712.52,-1737.48,-1975.72:100:192 1/0:-1974.59,-1950.96,-2276.74:100:211
145 chr2 133020542 . G A 50 PASS ABPV=1.00e+00;FPV=1.14e-01;FR=0.2503;HP=1;MMLQ=32;NF=3;NR=6;PP=50;RMP=53.94;RPV=7.08e-02;SC=CTATCCAAGTGGATCCAAATT;TC=66;TCF=24;TCR=42;TR=9;func=intergenic;gene=ANKRD30BL(dist=5000) GPR39(dist=153605);cons46=762 Name=lod=1662;segdup=0.93;dbsnp=rs2257591 GT:GL:GQ:NR 0/0:-181.04,-187.42,-271.44:29:29 1/0:-243.98,-224.07,-313.1:84:37
146 chr2 166801924 . C G 78 PASS ABPV=1.00e+00;FPV=5.71e-01;FR=0.2507;HP=3;MMLQ=34;NF=4;NR=0;PP=78;RMP=67.75;RPV=7.49e-01;SC=TATTTACAAACTGGCAATAGA;TC=18;TCF=17;TCR=1;TR=4;func=ncRNA;gene=LOC100506134;1000g=0.64;dbsnp=rs6432853 GT:GL:GQ:NR 0/0:-34.05,-39.57,-91.24:25:8 1/0:-42.79,-16.34,-58.89:100:10
147 chr2 204055943 . T C 59 PASS ABPV=2.58e-01;FPV=8.29e-02;FR=0.2500;HP=2;MMLQ=33;NF=11;NR=2;PP=59;RMP=61.13;RPV=3.22e-06;SC=ATGGCCGCCATCCTCATGACA;TC=128;TCF=65;TCR=63;TR=13;func=intronic;gene=NBEAL1;cons46=702 Name=lod=950;dbsnp=rs4561645 GT:GL:GQ:NR 0/0:-41.52,-53.03,-440.53:51:70 1/0:-89.56,-67.55,-350.54:93:58
148 chr2 210594540 . A G 200 PASS ABPV=1.00e+00;FPV=9.70e-01;FR=0.2507;HP=1;MMLQ=30;NF=10;NR=1;PP=200;RMP=52.61;RPV=9.37e-01;SC=CGAATGCAAGATATAGTTAAA;TC=27;TCF=25;TCR=2;TR=11;func=intronic;gene=MAP2;1000g=0.88;dbsnp=rs4673486 GT:GL:GQ:NR 0/0:0.0,-5.54,-62.54:25:8 0/1:-93.19,-14.77,-63.29:100:19
149 chr2 211444533 . GGT G 32 PASS ABPV=1.78e-01;FPV=1.96e-01;FR=0.2503;HP=2;NF=1;NR=3;PP=32;RMP=50.82;RPV=2.40e-03;SC=TGTTTCTTCGGGTGTGTGTGT;TC=54;TCF=11;TCR=43;TR=4 GT:GL:GQ:NR 0/0:-4.14,-10.38,-103.02:28:17 1/0:-41.6,-23.06,-172.26:78:37
150 chr2 227659818 . T TCAAGTGAGGA 93 PASS ABPV=3.68e-02;FPV=2.37e-01;FR=0.2500;HP=1;NF=0;NR=3;PP=93;RMP=91.0;RPV=7.64e-05;SC=CTCTCACCGCTGCCCAGGGGT;TC=63;TCF=5;TCR=58;TR=3 GT:GL:GQ:NR 0/0:-17.96,-35.28,-330.9:77:30 0/1:-94.07,-50.73,-458.79:100:41
151 chr2 227954599 . G A 200 PASS ABPV=1.00e+00;FPV=9.19e-01;FR=0.2507;HP=2;MMLQ=31;NF=6;NR=4;PP=200;RMP=46.35;RPV=9.51e-01;SC=TCTCCTTTTGGGCCTCTTCCT;TC=25;TCF=16;TCR=9;TR=10;func=exonic;gene=COL4A4;exon_func=nonsynonymous SNV;AAchange=NM_000092:c.C1444T:p.P482S;1000g=0.55;dbsnp=rs2229814;sift=0.44;pp2=0.0;phylop=0.897442;mutT=9.0E-5;LRT=0.824593 GT:GL:GQ:NR 0/0:0.0,-5.54,-68.56:25:9 0/1:-80.77,-11.53,-34.97:100:16
152 chr2 233273018 . G A 32 PASS ABPV=1.00e+00;FPV=3.62e-01;FR=0.2500;HP=3;MMLQ=34;NF=13;NR=4;PP=32;RMP=56.47;RPV=8.89e-03;SC=TTCCCATGGGGACCCCAGACC;TC=102;TCF=59;TCR=43;TR=17 GT:GL:GQ:NR 0/0:-50.24,-59.48,-309.03:41:45 0/1:-159.89,-144.07,-409.74:66:57
153 chr20 29633938 . A G 28 PASS ABPV=1.00e+00;FPV=1.27e-01;FR=0.2500;HP=2;MMLQ=34;NF=16;NR=24;PP=28;RMP=56.91;RPV=2.94e-01;SC=AAATGACTGGAATTTTTGTTT;TC=192;TCF=84;TCR=108;TR=40;func=ncRNA;gene=FRG1B;cons46=514 Name=lod=163;segdup=0.96;dbsnp=rs4006818 GT:GL:GQ:NR 0/0:-963.63,-978.07,-1139.59:64:101 1/0:-1046.34,-1031.41,-1112.07:63:91
154 chr20 33356511 . C T 44 PASS ABPV=1.00e+00;FPV=7.49e-01;FR=0.2507;HP=1;MMLQ=37;NF=0;NR=4;PP=44;RMP=57.46;RPV=6.28e-01;SC=AGTTTACCACCAGAAAAATGG;TC=17;TCF=1;TCR=16;TR=4;func=intronic;gene=NCOA6;cons46=243 Name=lod=13;1000g=0.36;dbsnp=rs2295353 GT:GL:GQ:NR 0/0:0.0,-5.54,-70.65:25:8 0/1:-49.75,-31.07,-63.51:79:9
155 chr21 14424170 . C G 200 PASS ABPV=1.00e+00;FPV=7.37e-05;FR=0.2502;HP=1;MMLQ=31;NF=51;NR=68;PP=200;RMP=55.06;RPV=7.01e-02;SC=GGAAAGAACACCTGACACGGC;TC=637;TCF=318;TCR=319;TR=119 GT:GL:GQ:NR 0/0:-1068.97,-1075.78,-2090.04:31:272 1/0:-1608.82,-1559.51,-2814.14:100:365
156 chr22 16256578 . G T 200 PASS ABPV=2.18e-01;FPV=6.87e-08;FR=0.2502;HP=4;MMLQ=34;NF=19;NR=8;PP=200;RMP=40.16;RPV=2.46e-02;SC=TGGCTCTGATGTTTCATTATG;TC=253;TCF=194;TCR=59;TR=27 GT:GL:GQ:NR 0/0:-139.12,-145.98,-745.94:31:118 0/1:-324.53,-220.54,-788.14:100:135
157 chr22 24640438 . TCA T 58 PASS ABPV=5.57e-01;FPV=3.19e-02;FR=0.2503;HP=2;NF=2;NR=1;PP=58;RMP=48.68;RPV=9.37e-01;SC=ATACATTCACTCACACACACA;TC=27;TCF=25;TCR=2;TR=3 GT:GL:GQ:NR 0/0:-4.37,-10.61,-107.94:28:12 0/1:-47.48,-22.82,-120.6:100:15
158 chr22 42524924 . A G 32 PASS ABPV=1.00e+00;FPV=1.78e-02;FR=0.2500;HP=2;MMLQ=35;NF=0;NR=4;PP=32;RMP=71.83;RPV=5.74e-01;SC=TGTCCAAGAGACCGTTGGGGC;TC=31;TCF=14;TCR=17;TR=4 GT:GL:GQ:NR 0/0:-1.84,-12.87,-112.28:49:17 1/0:-35.2,-19.47,-73.62:66:14
159 chr3 6522043 . G A 62 PASS ABPV=1.00e+00;FPV=5.16e-01;FR=0.2507;HP=3;MMLQ=37;NF=4;NR=0;PP=62;RMP=44.82;RPV=7.49e-01;SC=TAACTGCAAAGTAGGAACACG;TC=19;TCF=18;TCR=1;TR=4 GT:GL:GQ:NR 0/0:0.0,-5.54,-65.36:25:9 1/0:-46.21,-23.49,-68.33:96:10
160 chr3 135742089 . GAAAATA G 56 PASS ABPV=2.53e-02;FPV=5.62e-01;FR=0.2500;HP=4;NF=0;NR=2;PP=56;RMP=97.0;RPV=4.10e-05;SC=GTTTTGTTTTGAAAATATTTT;TC=55;TCF=2;TCR=53;TR=2 GT:GL:GQ:NR 0/0:-171.19,-180.69,-401.53:43:27 1/0:-163.7,-138.73,-368.83:100:28
161 chr3 195453014 . G A 73 PASS ABPV=1.00e+00;FPV=9.99e-01;FR=0.2500;HP=3;MMLQ=31;NF=44;NR=44;PP=73;RMP=52.04;RPV=1.00e-00;SC=GACAGCACCCGGGGCCACGAC;TC=210;TCF=115;TCR=95;TR=88 GT:GL:GQ:NR 0/0:-596.82,-608.68,-929.74:53:99 0/1:-825.59,-800.41,-1040.36:100:111
162 chr3 195453412 . C T 21 PASS ABPV=1.00e+00;FPV=1.25e-02;FR=0.2502;HP=2;MMLQ=25;NF=13;NR=52;PP=21;RMP=62.2;RPV=1.00e-00;SC=CCACGACTGCCCGGACGAGGC;TC=219;TCF=89;TCR=130;TR=65 GT:GL:GQ:NR 0/0:-275.62,-282.43,-681.47:31:103 0/1:-362.65,-349.41,-719.87:55:117
163 chr3 195506775 . G A 87 PASS ABPV=1.00e+00;FPV=8.81e-01;FR=0.2500;HP=1;MMLQ=34;NF=11;NR=4;PP=87;RMP=30.23;RPV=4.10e-02;SC=AGGAAGTGTCGGTGACAGGAA;TC=69;TCF=34;TCR=35;TR=15;func=exonic;gene=MUC4;exon_func=synonymous SNV;AAchange=NM_018406:c.C11676T:p.H3892H;cons46=381 Name=lod=47;segdup=0.92;1000g=0.48;dbsnp=rs79609066 GT:GL:GQ:NR 0/0:-215.78,-225.62,-329.97:44:31 0/1:-253.55,-225.09,-324.19:100:38
164 chr3 195507372 . C A 72 PASS ABPV=1.00e+00;FPV=9.50e-01;FR=0.2510;HP=1;MMLQ=31;NF=12;NR=10;PP=72;RMP=82.02;RPV=4.71e-01;SC=GAGGGGTGGCCTGACCTGTGG;TC=76;TCF=33;TCR=43;TR=22 GT:GL:GQ:NR 0/0:-85.59,-90.71,-175.03:23:27 0/1:-302.0,-277.02,-435.24:100:49
165 chr3 195509974 . A G 107 PASS ABPV=1.00e+00;FPV=4.52e-02;FR=0.2501;HP=1;MMLQ=33;NF=7;NR=15;PP=107;RMP=66.83;RPV=1.62e-01;SC=ATGACCTGTGAACACTGAGGA;TC=127;TCF=50;TCR=77;TR=22 GT:GL:GQ:NR 0/0:-281.04,-289.1,-469.31:36:51 0/1:-474.46,-441.44,-679.46:100:76
166 chr4 3589510 . G A 82 PASS ABPV=1.00e+00;FPV=1.00e-00;FR=0.2500;HP=1;MMLQ=35;NF=28;NR=15;PP=82;RMP=39.79;RPV=1.00e-00;SC=ACTTCCAGATGAGACTTCCTG;TC=89;TCF=62;TCR=27;TR=43;func=ncRNA;gene=FLJ35424 GT:GL:GQ:NR 0/0:-202.17,-216.0,-372.38:61:36 0/1:-618.94,-591.66,-690.1:100:53
167 chr4 5747131 . C A 40 PASS ABPV=1.00e+00;FPV=6.32e-01;FR=0.2502;HP=2;MMLQ=33;NF=1;NR=19;PP=40;RMP=63.27;RPV=9.99e-01;SC=AAATTGGCTACATTAGAGAGA;TC=45;TCF=5;TCR=40;TR=20 GT:GL:GQ:NR 0/0:-175.23,-182.17,-227.63:31:19 1/0:-264.71,-246.95,-301.81:75:26
168 chr4 70261725 . G A 25 PASS ABPV=1.00e+00;FPV=8.43e-01;FR=0.2503;HP=3;MMLQ=36;NF=1;NR=5;PP=25;RMP=77.58;RPV=8.09e-01;SC=TGTGGCCCTGGGGTAGTTACT;TC=19;TCF=3;TCR=16;TR=6 GT:GL:GQ:NR 0/0:-25.09,-31.31,-100.1:28:11 1/0:-62.48,-48.33,-68.8:59:8
169 chr5 837488 . C A 84 PASS ABPV=3.03e-01;FPV=2.26e-02;FR=0.2502;HP=2;MMLQ=35;NF=22;NR=3;PP=84;RMP=67.65;RPV=4.45e-09;SC=ACCTGGAGAACTCCTTTGTCC;TC=225;TCF=128;TCR=97;TR=25 GT:GL:GQ:NR 0/0:-71.02,-77.56,-596.34:30:92 0/1:-157.13,-129.33,-794.35:100:133
170 chr5 34192944 . A G 136 PASS ABPV=3.53e-01;FPV=1.29e-04;FR=0.2500;HP=1;MMLQ=31;NF=17;NR=13;PP=136;RMP=51.73;RPV=7.15e-05;SC=GCAGTGGATGAAGGCCCCTCA;TC=261;TCF=140;TCR=121;TR=30 GT:GL:GQ:NR 0/0:-120.41,-138.2,-806.35:79:120 0/1:-199.6,-159.91,-913.41:100:141
171 chr5 36200413 . G A 33 PASS ABPV=1.25e-02;FPV=1.03e-02;FR=0.2511;HP=3;MMLQ=34;NF=2;NR=4;PP=33;RMP=98.68;RPV=2.69e-06;SC=GAAAATGTATGTTATAAATAT;TC=109;TCF=30;TCR=79;TR=6 GT:GL:GQ:NR 0/0:-295.77,-300.82,-490.03:23:53 1/0:-290.08,-274.08,-469.93:67:56
172 chr5 41909830 . C T 27 PASS ABPV=5.28e-01;FPV=2.35e-03;FR=0.2504;HP=18;MMLQ=0;NF=0;NR=3;PP=27;RMP=14.14;RPV=9.29e-01;SC=AGATATCTTTCTTTTTTTTTT;TC=28;TCF=21;TCR=7;TR=3 GT:GL:GQ:NR 0/0:-4.61,-10.58,-40.73:26:11 0/1:-41.44,-26.72,-53.62:62:17
173 chr5 54329850 . C CTGCTTTACTTA 68 PASS ABPV=5.01e-01;FPV=1.00e+00;FR=0.2503;HP=1;NF=0;NR=2;PP=68;RMP=90.0;RPV=7.41e-02;SC=CATATGGGGTCCATTTTTGCA;TC=21;TCF=0;TCR=21;TR=2 GT:GL:GQ:NR 0/0:0.0,-6.24,-122.94:28:9 1/0:-45.59,-6.93,-110.5:100:12
174 chr5 58121059 . G A 112 PASS ABPV=1.00e+00;FPV=4.22e-01;FR=0.2501;HP=2;MMLQ=35;NF=0;NR=5;PP=112;RMP=75.51;RPV=4.68e-01;SC=TACAGAGTCCGAGCTAATTGT;TC=26;TCF=3;TCR=23;TR=5 GT:GL:GQ:NR 0/0:-31.77,-39.38,-124.25:34:12 0/1:-43.94,-9.7,-79.61:100:15
175 chr5 169535734 . C A 20 PASS ABPV=1.00e+00;FPV=1.00e+00;FR=0.2507;HP=1;MMLQ=34;NF=0;NR=2;PP=20;RMP=68.72;RPV=3.31e-01;SC=CAGGAGCCTCCGAGGAATCCA;TC=13;TCF=0;TCR=13;TR=2;func=UTR3;gene=FOXI1;1000g=0.35;dbsnp=rs6873124 GT:GL:GQ:NR 0/0:-5.3,-10.84,-76.27:25:8 1/0:-15.88,-2.77,-16.56:54:5
176 chr5 175467765 . A C 34 PASS ABPV=1.00e+00;FPV=6.86e-01;FR=0.2503;HP=3;MMLQ=37;NF=4;NR=7;PP=34;RMP=58.23;RPV=9.60e-01;SC=AGGAAAGCAGATTTGTACATC;TC=32;TCF=15;TCR=17;TR=11 GT:GL:GQ:NR 0/0:-48.25,-54.62,-116.89:29:16 0/1:-64.43,-48.26,-102.15:68:18
177 chr5 180047739 . CGT C 40 PASS ABPV=3.01e-01;FPV=4.20e-02;FR=0.2503;HP=3;NF=0;NR=2;PP=40;RMP=66.37;RPV=1.63e-01;SC=AAGGGGCCGGCGTGTGTGTGT;TC=28;TCF=11;TCR=17;TR=2 GT:GL:GQ:NR 0/0:-15.43,-21.66,-115.16:28:17 0/1:-35.79,-15.44,-86.67:86:11
178 chr6 26370657 . A G 26 PASS ABPV=1.00e+00;FPV=9.98e-01;FR=0.2500;HP=1;MMLQ=34;NF=25;NR=18;PP=26;RMP=46.67;RPV=9.65e-01;SC=ACAGTGGAGCAACGCCAAGGG;TC=112;TCF=61;TCR=51;TR=43 GT:GL:GQ:NR 0/0:-408.78,-416.97,-671.27:37:70 1/0:-270.25,-255.76,-422.39:61:42
179 chr6 26370659 . C T 32 PASS ABPV=1.00e+00;FPV=9.98e-01;FR=0.2500;HP=2;MMLQ=34;NF=25;NR=17;PP=32;RMP=48.69;RPV=9.08e-01;SC=AGTGGAGCAACGCCAAGGGAG;TC=114;TCF=61;TCR=53;TR=42 GT:GL:GQ:NR 0/0:-408.78,-419.23,-664.68:47:70 1/0:-278.07,-262.18,-440.62:67:44
180 chr6 35838820 . A ATTCTTACTTGG 44 PASS ABPV=1.42e-01;FPV=7.50e-01;FR=0.2500;HP=1;NF=0;NR=2;PP=44;RMP=90.0;RPV=2.64e-03;SC=CTCTACCAGAATGAAAAGTCT;TC=37;TCF=1;TCR=36;TR=2 GT:GL:GQ:NR 0/0:-22.8,-33.89,-243.84:49:19 1/0:-50.19,-17.08,-221.97:100:21
181 chr6 58777098 . A T 42 PASS ABPV=1.00e+00;FPV=2.57e-03;FR=0.2500;HP=2;MMLQ=34;NF=14;NR=25;PP=42;RMP=50.5;RPV=1.85e-01;SC=GTAACTCTAGATTGAAGAATT;TC=224;TCF=105;TCR=119;TR=39;func=intergenic;gene=GUSBP4(dist=489374) NONE(dist=NONE);dbsnp=rs4330557 GT:GL:GQ:NR 0/0:-1161.42,-1180.18,-1411.53:83:106 0/1:-1283.78,-1265.72,-1460.11:76:119
182 chr6 116774635 . C G 38 PASS ABPV=1.00e+00;FPV=3.66e-01;FR=0.2504;HP=1;MMLQ=36;NF=4;NR=12;PP=38;RMP=76.7;RPV=4.76e-01;SC=CTTTTTCCACCACAAATTCTT;TC=72;TCF=21;TCR=51;TR=16 GT:GL:GQ:NR 0/0:-45.72,-51.81,-228.46:28:30 0/1:-179.58,-162.43,-353.98:72:42
183 chr6 136599000 . T TCATCTGTGA 73 PASS ABPV=2.21e-05;FPV=2.55e-09;FR=0.2505;HP=4;NF=2;NR=0;PP=73;RMP=1.41;RPV=3.11e-04;SC=TTTTAGTTTTTACCTTTTTAA;TC=118;TCF=90;TCR=28;TR=2;func=intronic;gene=BCLAF1;cons46=573 Name=lod=284;segdup=0.97 GT:GL:GQ:NR 0/0:-44.16,-49.89,-603.4:26:61 1/0:-105.25,-67.59,-750.95:100:79
184 chr6 155757781 . T A 106 PASS ABPV=1.00e+00;FPV=3.16e-01;FR=0.2504;HP=2;MMLQ=36;NF=0;NR=5;PP=106;RMP=66.42;RPV=6.16e-01;SC=TACAGTGAGCTCTGAAATATC;TC=24;TCF=4;TCR=20;TR=5;func=intronic;gene=NOX3;1000g=0.22;dbsnp=rs231961 GT:GL:GQ:NR 0/0:0.0,-6.09,-69.03:28:9 0/1:-48.54,-15.69,-84.63:100:15
185 chr7 65159983 . A G 128 PASS ABPV=1.00e+00;FPV=5.13e-01;FR=0.2500;HP=2;MMLQ=33;NF=9;NR=0;PP=128;RMP=42.05;RPV=1.33e-01;SC=TTGCTTAGTTACCAGGTAGAA;TC=45;TCF=38;TCR=7;TR=9;func=ncRNA;gene=INTS4L2 LOC441242;cons46=439 Name=lod=81;segdup=0.99;1000g=0.26;dbsnp=rs2949280 GT:GL:GQ:NR 0/0:0.0,-9.67,-99.87:43:16 0/1:-63.32,-25.43,-98.84:100:29
186 chr7 100552044 . T G 46 PASS ABPV=1.00e+00;FPV=1.00e-00;FR=0.2500;HP=1;MMLQ=33;NF=133;NR=185;PP=46;RMP=54.24;RPV=1.00e-00;SC=CTGTTCCTTCTTCACCATACA;TC=776;TCF=387;TCR=389;TR=318 GT:GL:GQ:NR 0/0:-2768.08,-2799.9,-3980.82:100:373 0/1:-3148.55,-3129.5,-4372.1:80:403
187 chr7 102319079 . G A 34 PASS ABPV=4.40e-01;FPV=1.00e+00;FR=0.2500;HP=1;MMLQ=38;NF=0;NR=6;PP=34;RMP=53.53;RPV=6.65e-03;SC=TGTGAGATGCGTGTGAAAATG;TC=56;TCF=0;TCR=56;TR=6;func=intergenic;gene=POLR2J2(dist=6903) FAM185A(dist=70320);segdup=1.00;1000g=0.17;dbsnp=rs62458736 GT:GL:GQ:NR 0/0:-9.39,-20.95,-166.2:51:26 0/1:-46.26,-30.07,-176.58:68:30
188 chr7 106272259 . C T 200 PASS ABPV=1.00e+00;FPV=1.51e-04;FR=0.2501;HP=2;MMLQ=31;NF=27;NR=25;PP=200;RMP=18.87;RPV=1.08e-05;SC=CTCATTCCAACCTCTGCTTCC;TC=391;TCF=192;TCR=199;TR=52 GT:GL:GQ:NR 0/0:-1599.11,-1606.25,-1841.06:32:195 0/1:-1703.84,-1621.18,-1787.33:100:196
189 chr7 128492558 . G A 32 PASS ABPV=1.00e+00;FPV=9.80e-01;FR=0.2501;HP=6;MMLQ=35;NF=15;NR=1;PP=32;RMP=45.11;RPV=5.34e-01;SC=TGAGTCCAGGGGGGGCTGCTC;TC=45;TCF=39;TCR=6;TR=16 GT:GL:GQ:NR 0/0:-82.82,-89.89,-214.44:32:24 0/1:-137.27,-121.35,-194.99:67:21
190 chr7 142223942 . A G 200 PASS ABPV=1.00e+00;FPV=1.00e-00;FR=0.2500;HP=1;MMLQ=33;NF=86;NR=42;PP=200;RMP=48.5;RPV=9.93e-01;SC=ACTGTGAATCATCTACTACAC;TC=282;TCF=160;TCR=122;TR=128 GT:GL:GQ:NR 0/0:-840.21,-856.54,-1228.56:72:124 1/0:-1069.18,-1023.08,-1489.98:100:158
191 chr7 142498735 . A C 51 PASS ABPV=1.00e+00;FPV=9.39e-01;FR=0.2500;HP=4;MMLQ=34;NF=23;NR=20;PP=51;RMP=54.1;RPV=9.74e-01;SC=AGGACCTGAAAAACGTGTTCC;TC=127;TCF=71;TCR=56;TR=43;func=intergenic;gene=TRY6(dist=16336) EPHB6(dist=54057);sift=0.35 GT:GL:GQ:NR 0/0:-407.53,-415.97,-666.18:38:67 0/1:-407.94,-387.73,-626.55:86:62
192 chr7 143295456 . A C 200 PASS ABPV=1.00e+00;FPV=7.75e-01;FR=0.2500;HP=1;MMLQ=26;NF=24;NR=7;PP=200;RMP=70.65;RPV=6.11e-02;SC=GCCTCCTCGCAGTGGGGGGCA;TC=135;TCF=87;TCR=48;TR=31 GT:GL:GQ:NR 0/0:-28.78,-39.63,-253.37:48:66 0/1:-158.76,-57.73,-187.94:100:69
193 chr7 143453710 . T A 66 PASS ABPV=1.00e+00;FPV=5.62e-01;FR=0.2501;HP=3;MMLQ=36;NF=0;NR=15;PP=66;RMP=54.55;RPV=5.68e-01;SC=TCTTCCTTTGTTTTGTCCACT;TC=62;TCF=2;TCR=60;TR=15 GT:GL:GQ:NR 0/0:-65.41,-73.41,-216.2:36:31 0/1:-102.8,-79.18,-187.97:100:31
194 chr7 143956461 . T C 37 PASS ABPV=1.00e+00;FPV=8.34e-02;FR=0.2500;HP=2;MMLQ=31;NF=5;NR=0;PP=37;RMP=48.38;RPV=1.00e+00;SC=TGGGCTTGGCTGGATGCAGGA;TC=36;TCF=36;TCR=0;TR=5 GT:GL:GQ:NR 0/0:-6.63,-15.42,-125.53:39:20 1/0:-33.93,-16.96,-77.4:71:16
195 chr7 157367205 . TGA T 52 PASS ABPV=3.26e-01;FPV=5.62e-01;FR=0.2503;HP=2;NF=0;NR=2;PP=52;RMP=55.44;RPV=3.19e-02;SC=AGAGTAATAATGAGAGAGAGA;TC=27;TCF=2;TCR=25;TR=2;func=intronic;gene=PTPRN2 GT:GL:GQ:NR 0/0:-10.36,-16.59,-113.87:28:16 1/0:-39.42,-16.12,-59.64:99:12
196 chr8 8095880 . C T 131 PASS ABPV=1.00e+00;FPV=2.37e-01;FR=0.2500;HP=3;MMLQ=37;NF=0;NR=10;PP=131;RMP=64.63;RPV=8.71e-01;SC=GCCACATGGCCCCAGGCCCAA;TC=36;TCF=5;TCR=31;TR=10;func=ncRNA;gene=FLJ10661;segdup=0.98 GT:GL:GQ:NR 0/0:-78.8,-87.2,-171.27:38:18 0/1:-81.81,-43.3,-81.08:100:18
197 chr8 12236123 . T G 111 PASS ABPV=1.00e+00;FPV=1.38e-39;FR=0.2500;HP=2;MMLQ=30;NF=16;NR=9;PP=111;RMP=18.14;RPV=9.45e-01;SC=GTATTTGTGTTTGTGTGTGTG;TC=103;TCF=79;TCR=24;TR=25 GT:GL:GQ:NR 0/0:-265.16,-270.76,-457.35:100:49 1/0:-317.4,-305.02,-585.97:25:76
198 chr8 12428634 . C T 69 PASS ABPV=1.00e+00;FPV=7.50e-01;FR=0.2500;HP=1;MMLQ=36;NF=0;NR=5;PP=69;RMP=63.98;RPV=2.03e-01;SC=TCTTAACAACCGCCATGGTGC;TC=31;TCF=1;TCR=30;TR=5 GT:GL:GQ:NR 0/0:-10.77,-21.63,-134.62:48:17 1/0:-41.03,-16.59,-80.89:100:14
199 chr8 35608374 . T C 24 PASS ABPV=1.00e+00;FPV=6.32e-01;FR=0.2502;HP=2;MMLQ=34;NF=1;NR=34;PP=24;RMP=69.53;RPV=1.00e-00;SC=TGAAAGTGTGTGTTTTCCAAA;TC=62;TCF=5;TCR=57;TR=35 GT:GL:GQ:NR 0/0:-248.65,-255.21,-376.27:30:35 1/0:-265.91,-251.92,-307.04:58:27
200 chr8 121500323 . A AGTGGGATTGC 40 PASS ABPV=2.19e-01;FPV=8.43e-03;FR=0.2500;HP=2;NF=2;NR=0;PP=40;RMP=1.0;RPV=7.50e-01;SC=ATTATATCCTATGGATCAAAT;TC=32;TCF=31;TCR=1;TR=2 GT:GL:GQ:NR 0/0:-2.07,-11.08,-162.96:40:13 1/0:-47.66,-16.63,-264.67:100:25
201 chr9 14510 . CTGT C 200 PASS ABPV=2.20e-01;FPV=4.66e-14;FR=0.2500;HP=1;NF=12;NR=0;PP=200;RMP=43.31;RPV=1.00e-02;SC=TAAAAGCACACTGTTGGTTTC;TC=123;TCF=107;TCR=16;TR=12 GT:GL:GQ:NR 0/0:-22.04,-38.67,-350.71:73:53 0/1:-133.83,-67.48,-425.73:100:75
202 chr9 34724786 . G A 54 PASS ABPV=1.00e+00;FPV=5.46e-01;FR=0.2503;HP=2;MMLQ=31;NF=10;NR=18;PP=54;RMP=64.11;RPV=9.71e-01;SC=GGATTTCCACGGGACTAGGCT;TC=91;TCF=41;TCR=50;TR=28 GT:GL:GQ:NR 0/0:-77.92,-84.2,-224.15:29:46 1/0:-101.32,-80.48,-207.58:88:45
203 chr9 44118498 . G C 200 PASS ABPV=1.00e+00;FPV=9.49e-01;FR=0.2503;HP=2;MMLQ=34;NF=2;NR=7;PP=200;RMP=65.44;RPV=6.41e-01;SC=GAGGGCAGCTGCCTGTCACCT;TC=31;TCF=4;TCR=27;TR=9;func=intergenic;gene=CNTNAP3B(dist=196025) FAM27C(dist=871738);segdup=0.98;1000g=0.77;dbsnp=rs28610048 GT:GL:GQ:NR 0/0:-11.97,-18.32,-91.33:29:13 0/1:-73.63,-27.61,-81.59:100:18
204 chr9 67281836 . T G 200 PASS ABPV=1.00e+00;FPV=3.12e-01;FR=0.2500;HP=2;MMLQ=34;NF=6;NR=21;PP=200;RMP=63.02;RPV=5.58e-01;SC=GTGGACCTGATACAGTGGCCC;TC=115;TCF=31;TCR=84;TR=27;func=ncRNA;gene=AQP7P1;segdup=0.99;1000g=0.26;dbsnp=rs75812522 GT:GL:GQ:NR 0/0:-227.43,-240.42,-365.47:58:50 0/1:-353.09,-303.78,-464.7:100:65
205 chr9 67293649 . T G 200 PASS ABPV=1.00e+00;FPV=2.40e-02;FR=0.2509;HP=2;MMLQ=32;NF=8;NR=20;PP=200;RMP=65.85;RPV=6.29e-01;SC=GTGTGCCAAGTGACTTCATCT;TC=136;TCF=59;TCR=77;TR=28 GT:GL:GQ:NR 0/0:-52.46,-57.7,-399.51:24:62 0/1:-141.44,-82.05,-400.07:100:74
206 chr9 68358140 . T C 101 PASS ABPV=1.00e+00;FPV=4.09e-01;FR=0.2501;HP=2;MMLQ=31;NF=10;NR=13;PP=101;RMP=52.55;RPV=9.14e-01;SC=CCGCTTCAGATAGTGAAGAAG;TC=84;TCF=45;TCR=39;TR=23;func=intergenic;gene=ANKRD20A3(dist=387847) LOC642236(dist=69643);cons46=780 Name=lod=1967;segdup=0.98;dbsnp=rs62544188 GT:GL:GQ:NR 0/0:-99.49,-107.4,-306.63:36:46 0/1:-122.69,-91.06,-221.21:100:38
207 chr9 92995102 . C T 25 PASS ABPV=1.74e-02;FPV=2.34e-06;FR=0.2500;HP=3;MMLQ=33;NF=11;NR=10;PP=25;RMP=36.17;RPV=2.75e-07;SC=ATAAAATTGTCCCCTCCATTC;TC=258;TCF=127;TCR=131;TR=21;func=intergenic;gene=LOC286370(dist=191321) LOC340515(dist=229612);segdup=0.96 GT:GL:GQ:NR 0/0:-127.8,-170.89,-839.43:100:127 1/0:-164.37,-150.07,-829.28:60:131
208 chr9 139572068 . C G 44 PASS ABPV=1.00e+00;FPV=4.21e-01;FR=0.2507;HP=2;MMLQ=29;NF=0;NR=3;PP=44;RMP=57.58;RPV=7.11e-01;SC=GGCTGGGGCGCGAAGGCCTGG;TC=14;TCF=3;TCR=11;TR=3;func=intronic;gene=AGPAT2;1000g=0.57;dbsnp=rs2236514 GT:GL:GQ:NR 0/0:0.0,-5.54,-62.14:25:9 1/0:-29.67,-11.06,-23.48:61:5
209 chr9 140777194 . A AGAGCGGCT 200 PASS ABPV=7.76e-05;FPV=4.77e-24;FR=0.2500;HP=2;NF=2;NR=1;PP=200;RMP=4.36;RPV=2.92e-05;SC=CGCTTCTCCTAGGACGACACG;TC=123;TCF=77;TCR=46;TR=3;func=splicing;gene=CACNA1B(NM_000718:c.390-2->CATGTCCGAGCGGCT NM_001243812:c.390-2->CATGTCCGAGCGGCT);cons46=573 Name=lod=285 GT:GL:GQ:NR 0/0:-260.4,-275.23,-819.04:71:85 0/1:-510.15,-408.95,-886.86:3:93
210 chrUn_gl000214 53458 . T A 82 PASS ABPV=4.34e-01;FPV=7.36e-06;FR=0.2500;HP=4;MMLQ=34;NF=22;NR=0;PP=82;RMP=47.4;RPV=5.62e-01;SC=AAACACTATATAAATATAATT;TC=187;TCF=185;TCR=2;TR=22;func=intergenic;gene=NONE(dist=NONE) NONE(dist=NONE);segdup=0.98 GT:GL:GQ:NR 0/0:-154.3,-180.61,-694.01:100:88 1/0:-304.62,-277.18,-752.95:100:99
211 chrUn_gl000214 61035 . A G 25 PASS ABPV=2.68e-01;FPV=1.27e-06;FR=0.2500;HP=2;MMLQ=34;NF=20;NR=0;PP=25;RMP=60.63;RPV=4.22e-01;SC=ATGTTTACCTATATAACAAAC;TC=187;TCF=184;TCR=3;TR=20 GT:GL:GQ:NR 0/0:-517.15,-538.58,-910.78:94:80 0/1:-812.82,-798.54,-1242.08:60:107
212 chrUn_gl000214 74804 . T C 45 PASS ABPV=5.69e-01;FPV=4.33e-02;FR=0.2500;HP=2;MMLQ=35;NF=5;NR=0;PP=45;RMP=36.66;RPV=5.62e-01;SC=ATCACTTGAATGCAGTAGGCA;TC=42;TCF=40;TCR=2;TR=5 GT:GL:GQ:NR 0/0:-65.35,-75.06,-177.61:43:16 0/1:-180.67,-161.94,-279.38:79:26
213 chrUn_gl000220 121703 . T C 75 PASS ABPV=9.31e-02;FPV=1.94e-05;FR=0.2500;HP=2;MMLQ=31;NF=5;NR=8;PP=75;RMP=52.13;RPV=2.81e-03;SC=GTGGGCACGGTACGCTCTGGT;TC=150;TCF=78;TCR=72;TR=13 GT:GL:GQ:NR 0/0:-64.92,-78.18,-505.13:59:80 1/0:-102.59,-76.78,-453.86:100:70
214 chrUn_gl000220 128026 . C T 73 PASS ABPV=1.00e+00;FPV=1.39e-05;FR=0.2500;HP=1;MMLQ=37;NF=12;NR=5;PP=73;RMP=48.23;RPV=2.65e-03;SC=TCTCTGTCTCCGTCTCTGTCT;TC=117;TCF=62;TCR=55;TR=17 GT:GL:GQ:NR 0/0:-175.58,-193.94,-521.81:81:62 1/0:-151.61,-126.36,-397.61:100:57
215 chrUn_gl000220 132074 . G A 200 PASS ABPV=1.00e+00;FPV=2.39e-03;FR=0.2500;HP=2;MMLQ=34;NF=10;NR=11;PP=200;RMP=61.51;RPV=6.72e-03;SC=CTCTCTGTCCGTCTCTGTCTT;TC=167;TCF=84;TCR=83;TR=21;func=intergenic;gene=LOC100507412(dist=5378) RN5-8S1(dist=23923);segdup=0.95 GT:GL:GQ:NR 0/0:-248.2,-257.69,-615.12:42:77 0/1:-290.71,-234.79,-658.31:100:90
216 chrUn_gl000220 145002 . C T 28 PASS ABPV=3.17e-02;FPV=7.56e-08;FR=0.2500;HP=4;MMLQ=31;NF=1;NR=3;PP=28;RMP=65.86;RPV=4.70e-03;SC=ACTAGCCGGGCGCGGTGGCAC;TC=76;TCF=36;TCR=40;TR=4 GT:GL:GQ:NR 0/0:-17.73,-43.17,-320.69:100:46 1/0:-67.96,-52.99,-236.43:63:37
217 chrUn_gl000220 145368 . T C 30 PASS ABPV=1.09e-01;FPV=1.31e-02;FR=0.2500;HP=1;MMLQ=29;NF=8;NR=2;PP=30;RMP=72.81;RPV=1.92e-05;SC=AGCCGGGCGCTGTGCTGTGCT;TC=119;TCF=63;TCR=56;TR=10;func=intergenic;gene=LOC100507412(dist=18672) RN5-8S1(dist=10629);dbsnp=rs3878955 GT:GL:GQ:NR 0/0:-48.56,-59.69,-409.13:50:53 0/1:-66.74,-51.46,-448.03:64:66
218 chrUn_gl000225 30398 . C T 29 PASS ABPV=1.13e-01;FPV=3.15e-04;FR=0.2502;HP=1;MMLQ=33;NF=1;NR=5;PP=29;RMP=58.12;RPV=2.55e-02;SC=CCTGCTCCTCCGAGCCTTTGA;TC=80;TCF=37;TCR=43;TR=6 GT:GL:GQ:NR 0/0:-195.73,-202.53,-342.72:31:35 1/0:-230.45,-215.31,-371.74:63:45
219 chrUn_gl000225 43193 . C T 46 PASS ABPV=1.00e+00;FPV=7.84e-02;FR=0.2507;HP=3;MMLQ=31;NF=8;NR=12;PP=46;RMP=44.42;RPV=4.19e-02;SC=GCCAGAGAGACGGGCCTCCCG;TC=126;TCF=51;TCR=75;TR=20 GT:GL:GQ:NR 0/0:-577.5,-583.01,-743.98:25:63 1/0:-604.31,-585.16,-703.98:81:63
220 chrX 106390898 . G A 65 PASS ABPV=4.78e-01;FPV=1.49e-02;FR=0.2500;HP=1;MMLQ=39;NF=5;NR=0;PP=65;RMP=43.16;RPV=1.00e+00;SC=GTTTGGTCATGGAGCATACAA;TC=46;TCF=46;TCR=0;TR=5 GT:GL:GQ:NR 0/0:0.0,-11.78,-148.84:52:17 1/0:-49.23,-25.85,-211.17:99:29
projects / pysam.git / blob