Chr Start End Ref Alt Func_refGene Gene_refGene GeneDetail_refGene ExonicFunc_refGene AAChange_refGene Func_ensGene Gene_ensGene GeneDetail_ensGene ExonicFunc_ensGene AAChange_ensGene phastConsElements46way gwasCatalog cytoband tfbsConsSites wgEncodeRegTfbsClustered wgEncodeRegDnaseClustered evofold snp138 1000g2012feb_all 1000g2012apr_all 1000g2010nov_all 1000g2014sep_all 1000g2014sep_eur 1000g2014sep_eas 1000g2014sep_amr 1000g2014sep_afr 1000g2014sep_sas 1000g2012apr_eur 1000g2012apr_asn 1000g2012apr_amr 1000g2012apr_afr exac03 popfreq_max SIFT_score SIFT_pred Polyphen2_HDIV_score Polyphen2_HDIV_pred Polyphen2_HVAR_score Polyphen2_HVAR_pred LRT_score LRT_pred MutationTaster_score MutationTaster_pred MutationAssessor_score MutationAssessor_pred FATHMM_score FATHMM_pred RadialSVM_score RadialSVM_pred LR_score LR_pred VEST3_score CADD_raw CADD_phred GERP_RS phyloP46way_placental phyloP100way_vertebrate SiPhy_29way_logOdds cadd caddgt10 avsift esp6500_ea esp6500_aa cosmic67 cg69 clinvar_20140929 rank_score model model_rare model_exonic 3 111795803 111795803 G T exonic TMPRSS7 NA nonsynonymous SNV TMPRSS7:NM_001042575:exon14:c.G1658T:p.R553I exonic ENSG00000176040 NA nonsynonymous SNV ENSG00000176040:ENST00000419127:exon14:c.G1658T:p.R553I,ENSG00000176040:ENST00000452346:exon16:c.G2036T:p.R679I Score=525;Name=lod=181 NA 3q13.2 Score=844;Name=V$FOXJ2_02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 D 1.0 D 0.999 D 0.000 D 1.000 D 2.235 M -2.48 D 0.750 D 0.819 D 0.884 5.143 32 6.11 2.906 8.810 17.651 5.142991 5.142991 0 NA NA NA NA NA 22.3333334 5 1 1 10 123256215 123256215 T G exonic FGFR2 NA nonsynonymous SNV FGFR2:NM_001144914:exon10:c.A1358C:p.E453A,FGFR2:NM_001144916:exon10:c.A1349C:p.E450A,FGFR2:NM_001144917:exon11:c.A1346C:p.E449A,FGFR2:NM_001144918:exon11:c.A1343C:p.E448A,FGFR2:NM_023029:exon11:c.A1427C:p.E476A,FGFR2:NM_001144913:exon12:c.A1697C:p.E566A,FGFR2:NM_001144915:exon12:c.A1427C:p.E476A,FGFR2:NM_001144919:exon12:c.A1430C:p.E477A,FGFR2:NM_000141:exon13:c.A1694C:p.E565A,FGFR2:NM_022970:exon13:c.A1697C:p.E566A exonic ENSG00000066468 NA nonsynonymous SNV ENSG00000066468:ENST00000429361:exon5:c.A470C:p.E157A,ENSG00000066468:ENST00000369061:exon10:c.A1358C:p.E453A,ENSG00000066468:ENST00000356226:exon11:c.A1343C:p.E448A,ENSG00000066468:ENST00000369059:exon11:c.A1352C:p.E451A,ENSG00000066468:ENST00000369060:exon11:c.A1346C:p.E449A,ENSG00000066468:ENST00000336553:exon12:c.A1421C:p.E474A,ENSG00000066468:ENST00000346997:exon12:c.A1688C:p.E563A,ENSG00000066468:ENST00000357555:exon12:c.A1427C:p.E476A,ENSG00000066468:ENST00000360144:exon12:c.A1430C:p.E477A,ENSG00000066468:ENST00000369056:exon12:c.A1697C:p.E566A,ENSG00000066468:ENST00000478859:exon12:c.A1010C:p.E337A,ENSG00000066468:ENST00000351936:exon13:c.A1688C:p.E563A,ENSG00000066468:ENST00000358487:exon13:c.A1694C:p.E565A,ENSG00000066468:ENST00000369058:exon13:c.A1697C:p.E566A,ENSG00000066468:ENST00000457416:exon13:c.A1697C:p.E566A Score=355;Name=lod=37 NA 10q26.13 Score=857;Name=V$OCT1_02 NA NA NA rs121918506 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 D 1.0 D 0.998 D 0.000 D 1.000 A 3.77 H -3.85 D 1.102 D 0.949 D 0.997 4.453 23.7 5.28 1.994 7.910 15.258 4.452675 4.452675 0.02 NA NA NA NA CLINSIG=pathogenic;CLNDBN=Pfeiffer_syndrome;CLNREVSTAT=single;CLNACC=RCV000014219.24;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1455:C1863356:101600:ORPHA710 22.3333334 2 1 1 14 75472653 75472653 A G exonic EIF2B2 NA nonsynonymous SNV EIF2B2:NM_014239:exon5:c.A682G:p.R228G exonic ENSG00000119718 NA nonsynonymous SNV ENSG00000119718:ENST00000554748:exon1:c.A46G:p.R16G,ENSG00000119718:ENST00000266126:exon5:c.A682G:p.R228G Score=626;Name=lod=466 NA 14q24.3 Score=827;Name=V$FOXO3_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008236 NA 0 D 1.0 D 0.999 D 0.000 D 1.000 D 3.08 M -3.96 D 1.064 D 0.940 D 0.955 3.76 19.09 4.36 1.065 2.543 12.131 3.760111 3.760111 0 NA NA NA NA NA 22.3333252 1 1 1 1 205744020 205744020 G A exonic RAB7L1 NA nonsynonymous SNV RAB7L1:NM_001135663:exon1:c.C65T:p.S22L,RAB7L1:NM_001135662:exon2:c.C65T:p.S22L,RAB7L1:NM_003929:exon2:c.C65T:p.S22L exonic ENSG00000117280 NA nonsynonymous SNV ENSG00000117280:ENST00000414729:exon1:c.C65T:p.S22L,ENSG00000117280:ENST00000446390:exon1:c.C65T:p.S22L,ENSG00000117280:ENST00000235932:exon2:c.C65T:p.S22L,ENSG00000117280:ENST00000367139:exon2:c.C65T:p.S22L,ENSG00000117280:ENST00000528078:exon2:c.C65T:p.S22L Score=472;Name=lod=111 NA 1q32.1 NA Name=ZBTB7A_(SC-34508) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0000663 NA 0.03 D 0.999 D 0.96 D 0.000 D 1.000 D 4.085 H -1.71 D 0.898 D 0.825 D 0.885 5.579 35 5.71 2.692 5.399 17.613 5.5793 5.5793 0 NA NA NA NA NA 22.3332671 2 1 1 12 121416797 121416797 G A exonic HNF1A NA nonsynonymous SNV HNF1A:NM_000545:exon1:c.G226A:p.D76N exonic ENSG00000135100 NA nonsynonymous SNV ENSG00000135100:ENST00000257555:exon1:c.G226A:p.D76N,ENSG00000135100:ENST00000400024:exon1:c.G226A:p.D76N,ENSG00000135100:ENST00000402929:exon1:c.G226A:p.D76N,ENSG00000135100:ENST00000538646:exon1:c.G226A:p.D76N,ENSG00000135100:ENST00000540108:exon1:c.G226A:p.D76N,ENSG00000135100:ENST00000541395:exon1:c.G226A:p.D76N,ENSG00000135100:ENST00000541924:exon1:c.G226A:p.D76N,ENSG00000135100:ENST00000544413:exon1:c.G226A:p.D76N Score=456;Name=lod=95 NA 12q24.31 Score=950;Name=V$GATA1_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.03 D 0.999 D 0.994 D 0.000 D 1.000 D 1.7 L -4.98 D 1.099 D 0.947 D 0.163 4.842 27.6 4.34 1.954 6.435 15.836 4.84233 4.84233 0.01 NA NA NA NA NA 21.3333334 10 1 1 19 2415775 2415775 C A exonic TMPRSS9 NA nonsynonymous SNV TMPRSS9:NM_182973:exon10:c.C1579A:p.H527N exonic ENSG00000178297 NA nonsynonymous SNV ENSG00000178297:ENST00000332578:exon10:c.C1579A:p.H527N Score=343;Name=lod=33 NA 19p13.3 NA Name=Pol2(phosphoS2),CCNT2 Name=3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004201 NA 0 D 0.993 D 0.936 D 0.000 D 1.000 D 3.42 M 0.12 T 0.164 D 0.457 T 0.486 3.381 17.4 3.8 1.976 5.665 14.415 3.38052 3.38052 0 NA NA NA NA NA 21.3332914 8 1 1 13 110855918 110855918 C G exonic COL4A1 NA nonsynonymous SNV COL4A1:NM_001845:exon18:c.G994C:p.G332R exonic ENSG00000187498 NA nonsynonymous SNV ENSG00000187498:ENST00000375820:exon18:c.G994C:p.G332R,ENSG00000187498:ENST00000543140:exon18:c.G994C:p.G332R Score=410;Name=lod=62 NA 13q34 NA Name=ZNF263 NA NA rs150182714 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.00004942 0.0013 0.04 D 1.0 D 1.0 D 0.000 D 1.000 D 3.515 H -4.63 D 1.032 D 0.985 D 0.991 2.269 13.54 4.79 2.376 5.196 17.816 2.269008 2.269008 0.09 0.000233 0 NA NA NA 21.332051 15 1 1 11 77553595 77553595 G C exonic AAMDC NA nonsynonymous SNV AAMDC:NM_024684:exon2:c.G53C:p.G18A exonic ENSG00000087884 NA nonsynonymous SNV ENSG00000087884:ENST00000393427:exon2:c.G53C:p.G18A,ENSG00000087884:ENST00000525034:exon2:c.G110C:p.G37A,ENSG00000087884:ENST00000526164:exon2:c.G53C:p.G18A,ENSG00000087884:ENST00000532481:exon2:c.G53C:p.G18A,ENSG00000087884:ENST00000533193:exon2:c.G53C:p.G18A,ENSG00000087884:ENST00000304716:exon3:c.G53C:p.G18A,ENSG00000087884:ENST00000525409:exon3:c.G53C:p.G18A,ENSG00000087884:ENST00000526415:exon3:c.G53C:p.G18A,ENSG00000087884:ENST00000527134:exon3:c.G53C:p.G18A Score=633;Name=lod=500 NA 11q14.1 NA Name=c-Jun,c-Fos Name=47 NA rs138381967 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0002 0.0013 0.04 D 0.999 D 0.912 D 0.000 D 1.000 D 2.005 M 0.7 T 0.109 D 0.558 D 0.695 4.276 22.3 4.67 2.941 6.477 14.855 4.276383 4.276383 0.04 0.000466 0.000227 NA NA NA 21.3316674 3 1 1 7 47331594 47331594 G A exonic TNS3 NA nonsynonymous SNV TNS3:NM_022748:exon27:c.C3887T:p.T1296M exonic ENSG00000136205 NA nonsynonymous SNV ENSG00000136205:ENST00000355730:exon24:c.C3167T:p.T1056M,ENSG00000136205:ENST00000311160:exon27:c.C3887T:p.T1296M,ENSG00000136205:ENST00000398879:exon27:c.C3887T:p.T1296M Score=243;Name=lod=13 NA 7p12.3 Score=728;Name=V$PAX4_04 Name=Pol2 Name=124 NA rs41280696 0.0023 0.0023 0.001 0.00179712 0.006 NA 0.0043 NA NA 0.004 NA 0.01 NA 0.0046 0.01 0.02 D 1.0 D 0.964 D 0.020 N 1.000 D 1.795 L -3.05 D 0.782 D 0.844 D 0.364 3.88 19.72 5.86 2.775 6.828 17.680 3.880412 3.880412 0.01 0.008402 0.00161 NA NA NA 21.3143314 6 1 1 12 7280850 7280850 C T exonic RBP5 NA nonsynonymous SNV RBP5:NM_031491:exon2:c.G238A:p.G80R exonic ENSG00000139194 NA nonsynonymous SNV ENSG00000139194:ENST00000266560:exon2:c.G238A:p.G80R,ENSG00000139194:ENST00000542370:exon2:c.G238A:p.G80R Score=391;Name=lod=52 NA 12p13.31 NA Name=GABP,TAF1,Pol2 Name=7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.01 D 0.999 D 0.981 D 0.000 D 1.000 D 2.29 M 1.49 T -0.663 T 0.190 T 0.307 2.962 15.87 3.55 2.270 3.664 16.422 2.961973 2.961973 0.01 NA NA NA NA NA 20.3333334 2 1 1 20 44579206 44579206 C T exonic ZNF335 NA nonsynonymous SNV ZNF335:NM_022095:exon21:c.G3218A:p.R1073Q exonic ENSG00000198026 NA nonsynonymous SNV ENSG00000198026:ENST00000426788:exon18:c.G2753A:p.R918Q,ENSG00000198026:ENST00000322927:exon21:c.G3218A:p.R1073Q Score=644;Name=lod=551 NA 20q13.12 NA Name=Pol2 Name=8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008252 NA 0.01 D 1.0 D 0.998 D 0.000 D 1.000 D 2.475 M 2.31 T -0.902 T 0.137 T 0.803 4.953 28.8 4.82 2.681 7.239 17.438 4.952853 4.952853 0 NA NA NA NA NA 20.3333251 3 1 1 6 35259091 35259091 G T exonic ZNF76 NA nonsynonymous SNV ZNF76:NM_003427:exon8:c.G662T:p.G221V exonic ENSG00000065029 NA nonsynonymous SNV ENSG00000065029:ENST00000440666:exon7:c.G584T:p.G195V,ENSG00000065029:ENST00000339411:exon8:c.G662T:p.G221V,ENSG00000065029:ENST00000373953:exon8:c.G662T:p.G221V,ENSG00000065029:ENST00000469195:exon8:c.G662T:p.G221V Score=637;Name=lod=517 NA 6p21.31 Score=878;Name=V$AREB6_01 NA Name=5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0000286 NA 0 D 1.0 D 0.992 D 0.001 D 1.000 D 2.51 M 1.9 T -0.866 T 0.151 T 0.751 5.209 33 5.11 2.816 9.601 18.069 5.208544 5.208544 0 NA NA NA NA NA 20.3333048 5 2 2 2 204053267 204053267 G C exonic NBEAL1 NA nonsynonymous SNV NBEAL1:NM_001114132:exon44:c.G6691C:p.A2231P exonic ENSG00000144426 NA nonsynonymous SNV ENSG00000144426:ENST00000414576:exon7:c.G736C:p.A246P,ENSG00000144426:ENST00000449802:exon44:c.G6691C:p.A2231P Score=592;Name=lod=338 NA 2q33.2 Score=932;Name=V$LMO2COM_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000058 NA 0.16 T 0.997 D 0.95 D 0.000 D 1.000 D 2.08 M -1.44 T 0.198 D 0.649 D 0.578 5.15 32 5.85 2.773 9.751 19.761 5.150183 5.150183 0.04 NA NA NA NA NA 20.3332754 2 2 1 6 38256069 38256069 G A exonic BTBD9 NA nonsynonymous SNV BTBD9:NM_152733:exon7:c.C1229T:p.P410L,BTBD9:NM_001099272:exon8:c.C1433T:p.P478L,BTBD9:NM_001172418:exon8:c.C1343T:p.P448L,BTBD9:NM_052893:exon9:c.C1433T:p.P478L exonic ENSG00000183826 NA nonsynonymous SNV ENSG00000183826:ENST00000408958:exon6:c.C1229T:p.P410L,ENSG00000183826:ENST00000314100:exon7:c.C1229T:p.P410L,ENSG00000183826:ENST00000403056:exon7:c.C1433T:p.P478L,ENSG00000183826:ENST00000419706:exon8:c.C1343T:p.P448L,ENSG00000183826:ENST00000481247:exon8:c.C1433T:p.P478L Score=505;Name=lod=150 NA 6p21.2 NA NA NA NA rs375379024 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 0.0001 0 D 1.0 D 1.0 D 0.000 D 1.000 D 2.68 M -4.91 D 1.105 D 0.960 D 0.636 3.745 19.01 5.31 1.636 9.323 15.660 3.744885 3.744885 0 0.000118 0 NA NA NA 20.3331154 1 1 1 7 33061694 33061694 T G exonic NT5C3A NA nonsynonymous SNV NT5C3A:NM_001002010:exon4:c.A340C:p.K114Q,NT5C3A:NM_001002009:exon5:c.A223C:p.K75Q,NT5C3A:NM_016489:exon5:c.A223C:p.K75Q,NT5C3A:NM_001166118:exon6:c.A187C:p.K63Q exonic ENSG00000122643 NA nonsynonymous SNV ENSG00000122643:ENST00000242210:exon4:c.A340C:p.K114Q,ENSG00000122643:ENST00000405342:exon4:c.A223C:p.K75Q,ENSG00000122643:ENST00000409787:exon4:c.A223C:p.K75Q,ENSG00000122643:ENST00000396152:exon5:c.A223C:p.K75Q,ENSG00000122643:ENST00000381626:exon6:c.A187C:p.K63Q,ENSG00000122643:ENST00000409467:exon6:c.A187C:p.K63Q Score=575;Name=lod=289 NA 7p14.3 Score=798;Name=V$COMP1_01 NA NA NA rs144452782 0.0005 0.0005 NA 0.000599042 0.003 NA NA NA NA 0.0013 NA NA NA 0.001 0.0019 0.16 T 0.999 D 0.989 D 0.000 D 1.000 D 2.14 M -1.9 D 0.474 D 0.725 D 0.225 4.197 21.8 5.4 2.058 4.731 15.418 4.196983 4.196983 0.09 0.001862 0.000683 NA NA NA 20.3274714 4 2 2 1 32674927 32674927 T C exonic DCDC2B NA nonsynonymous SNV DCDC2B:NM_001099434:exon1:c.T233C:p.V78A exonic ENSG00000222046 NA nonsynonymous SNV ENSG00000222046:ENST00000409358:exon1:c.T233C:p.V78A Score=489;Name=lod=130 NA 1p35.1 NA Name=Pol2 NA NA rs144804850 0.0032 0.0032 0.01 0.00139776 0.005 NA 0.0029 NA NA 0.01 NA 0.0028 NA 0.0053 0.01 0 D 1.0 D 1.0 D . . 1.000 D 3.045 M -4.22 D 0.919 D 0.936 D 0.861 4.771 26.8 5.16 2.078 7.399 14.958 4.770833 4.770833 0 0.008095 0.001212 NA NA NA 20.3149384 2 1 1 19 40421270 40421270 C T exonic FCGBP NA nonsynonymous SNV FCGBP:NM_003890:exon5:c.G2651A:p.G884D exonic ENSG00000090920 NA nonsynonymous SNV ENSG00000090920:ENST00000221347:exon5:c.G2651A:p.G884D Score=449;Name=lod=89 NA 19q13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000009676 NA 0 D 1.0 D 1.0 D 0.000 D 1.000 D 2.91 M -0.15 T 0.129 D 0.496 T 0.699 5.266 33 4.94 2.449 7.747 17.284 5.265948 5.265948 NA NA NA NA NA NA 19.3333237 10 1 1 9 35733406 35733406 T C exonic CREB3 NA nonsynonymous SNV CREB3:NM_006368:exon4:c.T359C:p.L120P exonic ENSG00000107175 NA nonsynonymous SNV ENSG00000107175:ENST00000353704:exon4:c.T359C:p.L120P NA NA 9p13.3 NA Name=PU.1,CTCF,CTCF_(C-20),Pol2,Sin3Ak-20 Name=130 NA rs138981526 0 0 NA 0 NA NA NA NA NA NA NA NA NA 0.0004 0.0002 0 D 1.0 D 0.998 D 0.001 N 0.950 D 2.295 M -1.86 D 0.443 D 0.700 D 0.532 3.212 16.76 3.62 0.768 3.688 8.684 3.212464 3.212464 0 0.000233 0 NA NA NA 19.3327004 1 1 1 1 37947235 37947235 A T exonic ZC3H12A NA nonsynonymous SNV ZC3H12A:NM_025079:exon4:c.A617T:p.K206M exonic ENSG00000163874 NA nonsynonymous SNV ENSG00000163874:ENST00000373087:exon4:c.A617T:p.K206M Score=534;Name=lod=198 NA 1p34.3 NA Name=Egr-1 Name=29 NA rs201388317 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.00007415 0.0001 0.03 D 1.0 D 0.994 D 0.000 D 1.000 D 1.935 M 0.89 T -0.630 T 0.240 T 0.665 4.957 28.9 5.42 2.054 5.267 15.466 4.957246 4.957246 0 0.000116 0 NA NA NA 19.3321433 2 1 1 11 117979606 117979606 G C exonic TMPRSS4 NA nonsynonymous SNV TMPRSS4:NM_001173552:exon6:c.G458C:p.C153S,TMPRSS4:NM_001083947:exon7:c.G563C:p.C188S,TMPRSS4:NM_001173551:exon7:c.G572C:p.C191S,TMPRSS4:NM_019894:exon7:c.G578C:p.C193S exonic ENSG00000137648 NA nonsynonymous SNV ENSG00000137648:ENST00000522151:exon6:c.G419C:p.C140S,ENSG00000137648:ENST00000523251:exon6:c.G458C:p.C153S,ENSG00000137648:ENST00000437212:exon7:c.G578C:p.C193S,ENSG00000137648:ENST00000519236:exon7:c.G572C:p.C191S,ENSG00000137648:ENST00000522307:exon7:c.G137C:p.C46S,ENSG00000137648:ENST00000522824:exon7:c.G563C:p.C188S,ENSG00000137648:ENST00000534111:exon7:c.G572C:p.C191S Score=391;Name=lod=52 NA 11q23.3 NA NA NA NA rs45441097 0.0032 0.0032 0.001 0.00259585 0.006 NA 0.0086 NA 0.001 0.01 NA 0.01 NA 0.0042 0.01 0 D 1.0 D 0.999 D 0.000 D 1.000 D 2.97 M 0.26 T 0.898 D 0.961 D 0.893 4.036 20.7 4.93 2.564 5.377 15.172 4.036391 4.036391 0 0.005121 0.000909 NA 0.051 NA 19.3180124 3 1 1 13 45589616 45589616 C G exonic KIAA1704 NA nonsynonymous SNV KIAA1704:NM_018559:exon6:c.C590G:p.P197R exonic ENSG00000133114 NA nonsynonymous SNV ENSG00000133114:ENST00000357537:exon5:c.C80G:p.P27R,ENSG00000133114:ENST00000361121:exon6:c.C590G:p.P197R,ENSG00000133114:ENST00000379151:exon6:c.C590G:p.P197R,ENSG00000133114:ENST00000497558:exon6:c.C590G:p.P197R Score=599;Name=lod=361 NA 13q14.12 NA Name=c-Fos,GATA-2 Name=27 NA rs151309735 0.0018 0.0018 0.002 0.00199681 0.006 NA NA NA 0.0041 0.004 NA 0.0028 NA 0.004 0.0077 0.05 D 0.999 D 0.984 D 0.000 D 1.000 D 2.42 M . . -0.205 T 0.374 T 0.592 4.548 24.6 5.51 2.746 7.192 18.782 4.548355 4.548355 0.01 0.007674 0.001589 NA NA NA 19.3156594 2 1 1 6 33281504 33281504 C A exonic TAPBP NA nonsynonymous SNV TAPBP:NM_003190:exon2:c.G175T:p.D59Y,TAPBP:NM_172208:exon2:c.G175T:p.D59Y,TAPBP:NM_172209:exon2:c.G175T:p.D59Y exonic ENSG00000231925 NA nonsynonymous SNV ENSG00000231925:ENST00000426633:exon2:c.G175T:p.D59Y,ENSG00000231925:ENST00000434618:exon2:c.G175T:p.D59Y,ENSG00000231925:ENST00000456592:exon2:c.G175T:p.D59Y,ENSG00000231925:ENST00000475304:exon2:c.G175T:p.D59Y,ENSG00000231925:ENST00000489157:exon2:c.G175T:p.D59Y Score=321;Name=lod=27 NA 6p21.32 NA Name=EBF,BAF155,EBF1_(C-8),CEBPB,Pol2,TBP Name=111 NA rs45583737 0.0014 0.0014 0.003 0.00339457 0.0089 NA 0.0029 0.0008 0.0051 0.004 NA NA NA 0.0051 0.0076 0 D 1.0 D 0.996 D 0.000 D 0.996 D 2.28 M 1.14 T -0.631 T 0.222 T 0.777 1.795 11.96 4.15 2.300 1.961 12.127 1.795345 1.795345 0 0.007572 0.001365 NA NA NA 19.3117614 2 2 2 4 82369284 82369284 T G exonic RASGEF1B NA nonsynonymous SNV RASGEF1B:NM_152545:exon5:c.A593C:p.D198A exonic ENSG00000138670 NA nonsynonymous SNV ENSG00000138670:ENST00000504863:exon2:c.A128C:p.D43A,ENSG00000138670:ENST00000335927:exon4:c.A467C:p.D156A,ENSG00000138670:ENST00000264400:exon5:c.A593C:p.D198A,ENSG00000138670:ENST00000509081:exon5:c.A590C:p.D197A Score=558;Name=lod=248 NA 4q21.21 NA Name=FOSL1_(SC-183) Name=7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00006589 NA 0.06 T 0.972 D 0.844 P 0.000 D 1.000 D 2.085 M 1.58 T -0.886 T 0.156 T 0.912 4.644 25.5 5.31 2.243 5.820 15.100 4.643658 4.643658 0.01 NA NA NA NA NA 18.8332675 4 1 1 3 154886383 154886383 A G exonic MME NA nonsynonymous SNV MME:NM_000902:exon19:c.A1883G:p.N628S,MME:NM_007287:exon19:c.A1883G:p.N628S,MME:NM_007288:exon19:c.A1883G:p.N628S,MME:NM_007289:exon19:c.A1883G:p.N628S exonic ENSG00000196549 NA nonsynonymous SNV ENSG00000196549:ENST00000360490:exon19:c.A1883G:p.N628S,ENSG00000196549:ENST00000460393:exon19:c.A1883G:p.N628S,ENSG00000196549:ENST00000462745:exon19:c.A1883G:p.N628S,ENSG00000196549:ENST00000492661:exon19:c.A1883G:p.N628S,ENSG00000196549:ENST00000493237:exon19:c.A1883G:p.N628S Score=496;Name=lod=138 NA 3q25.2 Score=862;Name=V$OCT1_07 NA NA NA rs181745819 0.0005 0.0005 NA 0.000399361 0.001 NA 0.0014 NA NA NA NA 0.0028 NA 0.00003301 0.0028 0.12 T 0.976 D 0.739 P 0.000 D 1.000 D 1 L -1.64 D 0.011 D 0.512 D 0.258 3.865 19.64 5.25 1.988 7.082 15.182 3.865446 3.865446 0.07 NA NA NA NA NA 18.8323004 2 1 1 11 18047154 18047154 C T exonic TPH1 NA nonsynonymous SNV TPH1:NM_004179:exon7:c.G898A:p.A300T exonic ENSG00000129167 NA nonsynonymous SNV ENSG00000129167:ENST00000250018:exon7:c.G898A:p.A300T,ENSG00000129167:ENST00000341556:exon7:c.G898A:p.A300T Score=659;Name=lod=635 NA 11p15.1 NA NA NA NA rs145855109 NA NA NA 0.000399361 NA NA NA NA 0.002 NA NA NA NA 0.0007 0.0007 0.02 D 0.808 P 0.298 B 0.000 D 1.000 D 3.28 M -6.41 D 1.111 D 0.981 D 0.979 4.904 28.3 5.71 2.692 7.773 19.834 4.904046 4.904046 0.03 0.000699 0 NA NA NA 18.8319344 3 1 1 18 19153835 19153835 C T exonic ESCO1 NA nonsynonymous SNV ESCO1:NM_052911:exon4:c.G970A:p.E324K exonic ENSG00000141446 NA nonsynonymous SNV ENSG00000141446:ENST00000269214:exon4:c.G970A:p.E324K,ENSG00000141446:ENST00000383276:exon4:c.G970A:p.E324K Score=586;Name=lod=322 NA 18q11.2 Score=824;Name=V$FOXO3_01 Name=MafK_(ab50322) NA NA rs148536942 0.0023 0.0023 0.001 0.00119808 0.003 NA 0.0029 0.0008 NA 0.0026 NA 0.01 0.002 0.0012 0.01 0.03 D 0.996 D 0.837 P 0.000 D 0.998 D 1.935 M 1.44 T -0.398 T 0.296 T 0.561 4.078 21 5.74 2.715 5.038 18.116 4.078169 4.078169 NA 0.001628 0.000227 NA NA NA 18.8275054 1 1 1 16 2287649 2287649 A C exonic DNASE1L2 NA nonsynonymous SNV DNASE1L2:NM_001374:exon5:c.A590C:p.D197A exonic ENSG00000167968 NA nonsynonymous SNV ENSG00000167968:ENST00000564065:exon4:c.A590C:p.D197A,ENSG00000167968:ENST00000569184:exon4:c.A581C:p.D194A,ENSG00000167968:ENST00000320700:exon5:c.A590C:p.D197A,ENSG00000167968:ENST00000382437:exon5:c.A527C:p.D176A,ENSG00000167968:ENST00000567494:exon5:c.A590C:p.D197A Score=403;Name=lod=58 NA 16p13.3 NA Name=Pol2 Name=10 NA rs62621282 0.0041 0.0041 NA 0.00259585 0.005 NA 0.0115 NA NA 0.01 NA 0.01 NA 0.0026 0.01 0.14 T 0.984 D 0.831 P 0.000 D 0.528 N 2.56 M -1.28 T 0.199 D 0.502 D 0.388 2.54 14.45 4.37 1.833 4.650 9.904 2.539914 2.539914 0.02 0.002908 0.000761 NA NA NA 18.8228254 2 1 1 21 33975515 33975515 C T exonic C21orf59 NA nonsynonymous SNV C21orf59:NM_021254:exon5:c.G622A:p.V208M exonic ENSG00000159079,ENSG00000265590 NA nonsynonymous SNV ENSG00000159079:ENST00000540881:exon4:c.G454A:p.V152M,ENSG00000159079:ENST00000290155:exon5:c.G622A:p.V208M,ENSG00000159079:ENST00000382549:exon5:c.G622A:p.V208M,ENSG00000159079:ENST00000440966:exon5:c.G622A:p.V208M,ENSG00000265590:ENST00000553001:exon5:c.G622A:p.V208M Score=554;Name=lod=239 NA 21q22.11 Score=959;Name=V$MZF1_01 NA NA NA rs61735781 0.0041 0.0041 0.007 0.00379393 0.0099 NA 0.0014 NA 0.0082 0.01 NA NA NA 0.0045 0.011 0.02 D 0.999 D 0.907 P 0.000 D 0.999 D 2.77 M . . 0.014 D 0.434 T 0.604 4.317 22.6 5.38 2.677 2.548 19.501 4.316671 4.316671 0.01 0.007209 0.001362 NA 0.065 NA 18.8117244 2 1 1 9 37711382 37711382 G C exonic FRMPD1 NA nonsynonymous SNV FRMPD1:NM_014907:exon5:c.G398C:p.R133P exonic ENSG00000070601 NA nonsynonymous SNV ENSG00000070601:ENST00000377765:exon5:c.G398C:p.R133P,ENSG00000070601:ENST00000539465:exon5:c.G398C:p.R133P Score=472;Name=lod=111 NA 9p13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 D 1.0 D 0.984 D 0.000 D 1.000 D 2.53 M 0.63 T -0.384 T 0.311 T 0.948 4.135 21.3 5.31 2.486 5.331 14.482 4.135137 4.135137 0 NA NA NA NA NA 18.3333334 5 1 1 11 45891977 45891977 T G exonic CRY2 NA nonsynonymous SNV CRY2:NM_001127457:exon9:c.T1260G:p.I420M,CRY2:NM_021117:exon9:c.T1506G:p.I502M exonic ENSG00000121671 NA nonsynonymous SNV ENSG00000121671:ENST00000417225:exon9:c.T1260G:p.I420M,ENSG00000121671:ENST00000443527:exon9:c.T1506G:p.I502M Score=538;Name=lod=204 NA 11p11.2 Score=764;Name=V$HOX13_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 D 0.923 P 0.85 P 0.000 D 0.997 D 3.075 M . . 0.057 D 0.461 T 0.487 3.783 19.2 -2.88 -0.421 -1.309 15.300 3.78254 3.78254 0 NA NA NA NA NA 18.3333334 2 1 1 16 23456431 23456431 G C exonic COG7 NA nonsynonymous SNV COG7:NM_153603:exon3:c.C373G:p.L125V exonic ENSG00000168434 NA nonsynonymous SNV ENSG00000168434:ENST00000307149:exon3:c.C373G:p.L125V Score=533;Name=lod=195 NA 16p12.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.04 D 0.999 D 0.964 D 0.000 D 1.000 D 2.22 M 0.01 T -0.175 T 0.430 T 0.925 4.863 27.8 5.55 2.601 6.753 18.498 4.863331 4.863331 0 NA NA NA NA NA 18.3333334 2 1 1 5 140209597 140209597 G T exonic PCDHA6 NA nonsynonymous SNV PCDHA6:NM_018909:exon1:c.G1921T:p.D641Y,PCDHA6:NM_031848:exon1:c.G1921T:p.D641Y exonic ENSG00000081842 NA nonsynonymous SNV ENSG00000081842:ENST00000529310:exon1:c.G1921T:p.D641Y Score=259;Name=lod=15 NA 5q31.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002487 NA 0 D 1.0 D 0.99 D 0.002 U 1.000 D 3.355 M 0.69 T 0.010 D 0.385 T 0.531 1.802 11.98 3.98 2.216 5.619 16.652 1.801839 1.801839 0 NA NA NA NA NA 18.3333085 3 3 3 18 21494777 21494777 C A exonic LAMA3 NA nonsynonymous SNV LAMA3:NM_001127718:exon20:c.C2602A:p.P868T,LAMA3:NM_000227:exon21:c.C2770A:p.P924T,LAMA3:NM_001127717:exon57:c.C7429A:p.P2477T,LAMA3:NM_198129:exon58:c.C7597A:p.P2533T exonic ENSG00000053747 NA nonsynonymous SNV ENSG00000053747:ENST00000587184:exon20:c.C2602A:p.P868T,ENSG00000053747:ENST00000269217:exon21:c.C2770A:p.P924T,ENSG00000053747:ENST00000399516:exon57:c.C7429A:p.P2477T,ENSG00000053747:ENST00000313654:exon58:c.C7597A:p.P2533T Score=361;Name=lod=39 NA 18q11.2 NA NA NA NA rs201547061 0.0009 0.0009 NA 0.000399361 NA NA 0.0029 NA NA 0.0013 NA 0.0028 NA 0.00004956 0.0028 0.01 D 1.0 D 1.0 D . . 1.000 D 2.52 M -0.81 T 0.325 D 0.608 D 0.742 3.39 17.44 4.87 2.513 4.889 18.201 3.39001 3.39001 0 NA NA NA NA NA 18.3332838 14 3 1 12 21028181 21028181 T A exonic SLCO1B3 NA nonsynonymous SNV SLCO1B3:NM_019844:exon9:c.T740A:p.I247K exonic ENSG00000111700,ENSG00000257046 NA nonsynonymous SNV ENSG00000111700:ENST00000544370:exon3:c.T212A:p.I71K,ENSG00000257046:ENST00000540229:exon7:c.T740A:p.I247K,ENSG00000111700:ENST00000553473:exon7:c.T740A:p.I247K,ENSG00000111700:ENST00000261196:exon8:c.T740A:p.I247K,ENSG00000111700:ENST00000540853:exon8:c.T740A:p.I247K,ENSG00000111700:ENST00000381545:exon9:c.T740A:p.I247K Score=355;Name=lod=37 NA 12p12.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 NA 0 D 1.0 D 0.998 D 0.000 D 1.000 D 3.42 M 0.87 T -0.245 T 0.323 T 0.823 2.492 14.29 3.92 1.653 6.000 11.126 2.492348 2.492348 0 NA NA NA NA NA 18.3332334 1 1 1 17 39620376 39620376 C T exonic KRT32 NA nonsynonymous SNV KRT32:NM_002278:exon5:c.G950A:p.R317H exonic ENSG00000108759 NA nonsynonymous SNV ENSG00000108759:ENST00000225899:exon5:c.G950A:p.R317H Score=399;Name=lod=56 NA 17q21.2 NA NA NA NA rs144111267 0.0005 0.0005 NA 0.00179712 NA NA NA 0.0068 NA NA NA NA 0.002 0.001 0.0089 0.01 D 1.0 D 0.997 D 0.005 N 0.812 D 1.8 L -2.68 D 0.706 D 0.728 D 0.542 3.85 19.56 5.04 2.492 3.649 11.270 3.849917 3.849917 0.03 0 0.008852 NA NA NA 18.3323334 6 1 1 1 211836799 211836799 A G exonic NEK2 NA nonsynonymous SNV NEK2:NM_002497:exon8:c.T1307C:p.L436P exonic ENSG00000117650 NA nonsynonymous SNV ENSG00000117650:ENST00000366999:exon8:c.T1307C:p.L436P,ENSG00000117650:ENST00000540251:exon9:c.T1178C:p.L393P Score=374;Name=lod=44 NA 1q32.3 NA NA NA NA rs202099146 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.00008719 0.0013 0.29 T 1.0 D 0.977 D 0.001 D 1.000 D 1.43 L -2.4 D 0.438 D 0.742 D 0.867 3.989 20.4 5.46 2.195 7.714 15.834 3.988833 3.988833 0.09 0.000349 0 NA NA NA 18.3318972 4 1 1 5 76029285 76029285 C A exonic F2R NA nonsynonymous SNV F2R:NM_001992:exon2:c.C1235A:p.S412Y exonic ENSG00000181104 NA nonsynonymous SNV ENSG00000181104:ENST00000319211:exon2:c.C1235A:p.S412Y NA NA 5q13.3 Score=719;Name=V$SEF1_C NA NA NA rs2227799 0.0005 0.0005 NA 0.00119808 0.003 NA 0.0014 0.0015 NA NA NA NA 0.002 0.0003 0.011 0.04 D 1.0 D 0.972 D 0.342 N 0.872 D 1.995 M -1.06 T 0.314 D 0.605 D 0.234 3.121 16.43 4.79 2.641 5.039 18.378 3.121071 3.121071 0 0.000233 0.000227 NA 0.007 NA 18.3298004 1 1 1 16 16208928 16208928 G A exonic ABCC1 NA nonsynonymous SNV ABCC1:NM_004996:exon23:c.G3385A:p.V1129I exonic ENSG00000103222 NA nonsynonymous SNV ENSG00000103222:ENST00000349029:exon21:c.G3040A:p.V1014I,ENSG00000103222:ENST00000346370:exon22:c.G3217A:p.V1073I,ENSG00000103222:ENST00000351154:exon22:c.G3208A:p.V1070I,ENSG00000103222:ENST00000345148:exon23:c.G3385A:p.V1129I,ENSG00000103222:ENST00000399410:exon23:c.G3385A:p.V1129I,ENSG00000103222:ENST00000399408:exon24:c.G3415A:p.V1139I Score=497;Name=lod=139 NA 16p13.11 NA NA NA NA rs74985930 0.0009 0.0009 NA 0.000399361 0.001 NA NA NA 0.001 0.0013 0.0017 NA NA 0.0015 0.0017 0.35 T 1.0 D 0.997 D 0.000 D 1.000 D 0.105 N -2.67 D 0.355 D 0.686 D 0.473 3.406 17.5 5.18 2.417 7.992 17.686 3.40567 3.40567 0.12 0.001299 0 ID=COSM702670;OCCURENCE=1(lung) NA NA 18.3295344 9 2 2 7 103969537 103969537 G T exonic LHFPL3 NA nonsynonymous SNV LHFPL3:NM_199000:exon1:c.G310T:p.A104S exonic ENSG00000187416 NA nonsynonymous SNV ENSG00000187416:ENST00000401970:exon1:c.G268T:p.A90S,ENSG00000187416:ENST00000424859:exon1:c.G268T:p.A90S,ENSG00000187416:ENST00000535008:exon1:c.G310T:p.A104S,ENSG00000187416:ENST00000543266:exon1:c.G310T:p.A104S Score=831;Name=lod=3182 NA 7q22.2 NA NA Name=3 NA rs190167677 0.0014 0.0014 NA 0.000599042 0.002 NA 0.0014 NA NA 0.0026 NA 0.0028 NA 0.0009 0.0028 0.46 T 0.991 D 0.962 D 0.020 N 1.000 D 2.62 M -0.69 T 0.125 D 0.629 D 0.562 4.5 24.2 5.06 2.339 9.490 18.455 4.499961 4.499961 0.21 0.000949 0 NA NA NA 18.3294844 2 2 2 15 44856827 44856827 G A exonic SPG11 NA nonsynonymous SNV SPG11:NM_001160227:exon37:c.C6730T:p.L2244F,SPG11:NM_025137:exon39:c.C7069T:p.L2357F exonic ENSG00000104133 NA nonsynonymous SNV ENSG00000104133:ENST00000535302:exon37:c.C6730T:p.L2244F,ENSG00000104133:ENST00000261866:exon39:c.C7069T:p.L2357F Score=569;Name=lod=274 NA 15q21.1 Score=768;Name=V$MEF2_01 NA NA NA rs139334167 0.0027 0.0027 0.003 0.00179712 0.004 NA 0.0072 NA NA 0.004 NA 0.01 NA 0.0013 0.011 0.07 T 0.999 D 0.967 D 0.028 N 1.000 D 2.125 M -1.12 T 0.215 D 0.560 D 0.452 3.749 19.04 5.26 1.611 1.327 15.147 3.749209 3.749209 0.05 0.00221 0.000682 NA 0.007 NA 18.3258234 2 1 1 17 10354727 10354727 T G exonic MYH4 NA nonsynonymous SNV MYH4:NM_017533:exon28:c.A3781C:p.S1261R exonic ENSG00000264424 NA nonsynonymous SNV ENSG00000264424:ENST00000255381:exon28:c.A3781C:p.S1261R Score=401;Name=lod=57 NA 17p13.1 NA NA NA NA rs34610503 0.0005 0.0005 0.001 0.00239617 0.002 NA 0.0029 NA 0.0082 NA NA 0.0028 NA 0.0032 0.0033 0.01 D 0.849 P 0.649 P 0.001 U 0.979 D 2.865 M -1.65 D 0.444 D 0.646 D 0.629 4.172 21.6 5.62 2.263 2.043 11.245 4.17248 4.17248 NA 0.003256 0.000681 NA NA NA 18.3248774 12 1 1 12 58018668 58018668 T G exonic SLC26A10 NA nonsynonymous SNV SLC26A10:NM_133489:exon10:c.T1247G:p.L416R exonic ENSG00000135502 NA nonsynonymous SNV ENSG00000135502:ENST00000320442:exon10:c.T1247G:p.L416R,ENSG00000135502:ENST00000379218:exon11:c.T1354G:p.S452A Score=340;Name=lod=32 NA 12q13.3 NA NA NA NA rs111924104 0.0032 0.0032 0.001 0.00359425 0.003 NA 0.0058 0.0053 0.0041 0.01 NA 0.01 0.002 0.0054 0.01 0.03 D 0.997 D 0.952 D . . 1.000 D 1.735 L -2.4 D 0.394 D 0.697 D 0.659 2.246 13.47 3.65 2.029 4.422 7.261 2.246357 2.246357 0.02 0.00686 0.004085 NA NA NA 18.3180734 4 1 1 16 89986091 89986091 G A exonic MC1R NA nonsynonymous SNV MC1R:NM_002386:exon1:c.G425A:p.R142H exonic ENSG00000198211,ENSG00000258839 NA nonsynonymous SNV ENSG00000258839:ENST00000555147:exon1:c.G425A:p.R142H,ENSG00000198211:ENST00000556922:exon1:c.G425A:p.R142H,ENSG00000258839:ENST00000555427:exon3:c.G425A:p.R142H Score=538;Name=lod=204 NA 16q24.3 NA NA NA NA rs11547464 0.0037 0.0037 0.003 0.00279553 0.0089 NA 0.0058 0.0008 NA 0.01 NA 0.01 NA 0.005 0.01 . . 1.0 D 1.0 D 0.001 U 1.000 D 4.11 H -4.27 D 0.907 D 0.957 D 0.884 5.507 35 4.81 2.234 6.453 16.852 5.507412 5.507412 0 0.007442 0.000682 NA NA NA 18.3119914 1 1 1 2 179643775 179643775 C T exonic TTN NA nonsynonymous SNV TTN:NM_003319:exon23:c.G3896A:p.G1299D,TTN:NM_133432:exon23:c.G3896A:p.G1299D,TTN:NM_133437:exon23:c.G3896A:p.G1299D,TTN:NM_001256850:exon24:c.G4034A:p.G1345D,TTN:NM_001267550:exon24:c.G4034A:p.G1345D,TTN:NM_133378:exon24:c.G4034A:p.G1345D,TTN:NM_133379:exon24:c.G4034A:p.G1345D exonic ENSG00000155657 NA nonsynonymous SNV ENSG00000155657:ENST00000342175:exon23:c.G3896A:p.G1299D,ENSG00000155657:ENST00000359218:exon23:c.G3896A:p.G1299D,ENSG00000155657:ENST00000460472:exon23:c.G3896A:p.G1299D,ENSG00000155657:ENST00000342992:exon24:c.G4034A:p.G1345D,ENSG00000155657:ENST00000360870:exon24:c.G4034A:p.G1345D,ENSG00000155657:ENST00000589042:exon24:c.G4034A:p.G1345D,ENSG00000155657:ENST00000591111:exon24:c.G4034A:p.G1345D Score=638;Name=lod=524 NA 2q31.2 Score=855;Name=V$ZID_01 NA NA NA rs36021856 0.01 0.01 0.004 0.00379393 0.0159 NA 0.0043 NA NA 0.02 NA 0.01 NA 0.0099 0.02 0 D 1.0 D 1.0 D . . 1.000 D 2.38 M -0.24 T -0.120 T 0.356 T 0.783 3.312 17.13 5.72 2.711 7.781 19.895 3.311645 3.311645 0.03 0.007326 0.000681 NA NA CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000040288.1|RCV000126011.1;CLNDSDB=.|.;CLNDSDBID=.|. 18.3002074 11 4 4 14 75416073 75416073 T C exonic PGF NA nonsynonymous SNV PGF:NM_001207012:exon3:c.A302G:p.N101S,PGF:NM_002632:exon3:c.A302G:p.N101S exonic ENSG00000119630 NA nonsynonymous SNV ENSG00000119630:ENST00000238607:exon3:c.A299G:p.N100S,ENSG00000119630:ENST00000405431:exon3:c.A302G:p.N101S,ENSG00000119630:ENST00000553716:exon3:c.A302G:p.N101S,ENSG00000119630:ENST00000555567:exon3:c.A302G:p.N101S Score=483;Name=lod=123 NA 14q24.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001789 NA 0 D 0.999 D 0.888 P 0.000 D 0.976 D 1.965 M . . -0.440 T 0.292 T 0.257 3.616 18.4 4.16 1.753 4.210 10.189 3.615925 3.615925 0 NA NA NA NA NA 17.8333155 3 2 1 9 109692959 109692959 G C exonic ZNF462 NA nonsynonymous SNV ZNF462:NM_021224:exon4:c.G6001C:p.A2001P exonic ENSG00000148143 NA nonsynonymous SNV ENSG00000148143:ENST00000374686:exon2:c.G2650C:p.A884P,ENSG00000148143:ENST00000441147:exon2:c.G2536C:p.A846P,ENSG00000148143:ENST00000277225:exon4:c.G6001C:p.A2001P,ENSG00000148143:ENST00000457913:exon4:c.G6001C:p.A2001P Score=419;Name=lod=67 NA 9q31.2 Score=758;Name=V$HEN1_02 NA Name=7 NA NA NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.00002474 NA 0.1 T 0.991 D 0.766 P 0.000 D 1.000 D 0.55 N 3.9 T -1.035 T 0.024 T 0.8 3.262 16.95 5.09 2.359 2.745 13.474 3.262111 3.262111 0.01 NA NA NA NA NA 17.8323087 5 1 1 5 39311336 39311336 A T exonic C9 NA nonsynonymous SNV C9:NM_001737:exon7:c.T1014A:p.F338L exonic ENSG00000113600 NA nonsynonymous SNV ENSG00000113600:ENST00000263408:exon7:c.T1014A:p.F338L Score=533;Name=lod=195 NA 5p13.1 Score=741;Name=V$MEF2_04 NA NA NA rs141600725 0.0005 0.0005 NA 0.000399361 NA NA 0.0014 NA 0.001 NA NA 0.0028 NA 0.0008 0.0028 0.48 T 0.957 D 0.67 P 0.000 D 0.981 D 1.75 L -2.07 D -0.125 T 0.536 D 0.679 4.201 21.8 4.31 2.082 1.646 9.879 4.201417 4.201417 0.04 0.002093 0.000681 NA NA NA 17.8304404 1 1 1 11 16824599 16824599 C T exonic PLEKHA7 NA nonsynonymous SNV PLEKHA7:NM_175058:exon15:c.G2077A:p.V693I exonic ENSG00000166689 NA nonsynonymous SNV ENSG00000166689:ENST00000525581:exon3:c.G70A:p.V24I,ENSG00000166689:ENST00000355661:exon15:c.G2077A:p.V693I,ENSG00000166689:ENST00000448080:exon15:c.G2077A:p.V693I,ENSG00000166689:ENST00000531066:exon15:c.G2077A:p.V693I Score=595;Name=lod=349 NA 11p15.1 Score=795;Name=V$ER_Q6 NA NA NA rs34556458 0.01 0.01 0.005 0.0061901 0.0119 NA 0.0202 0.0008 0.0041 0.01 NA 0.03 0.002 0.0068 0.03 0.04 D 0.995 D 0.867 P 0.000 D 1.000 D 2.215 M 1.41 T -0.980 T 0.075 T 0.497 5.112 32 5.84 2.768 7.272 19.738 5.112012 5.112012 0.18 0.007802 0.001591 NA NA NA 17.8068314 8 1 1 7 27856536 27856536 A G exonic TAX1BP1 NA nonsynonymous SNV TAX1BP1:NM_001206902:exon14:c.A1367G:p.D456G,TAX1BP1:NM_001079864:exon15:c.A1838G:p.D613G,TAX1BP1:NM_001206901:exon15:c.A1838G:p.D613G,TAX1BP1:NM_006024:exon15:c.A1964G:p.D655G exonic ENSG00000106052 NA nonsynonymous SNV ENSG00000106052:ENST00000457186:exon7:c.A575G:p.D192G,ENSG00000106052:ENST00000433216:exon14:c.A1367G:p.D456G,ENSG00000106052:ENST00000265393:exon15:c.A1838G:p.D613G,ENSG00000106052:ENST00000396319:exon15:c.A1964G:p.D655G,ENSG00000106052:ENST00000543117:exon15:c.A1838G:p.D613G,ENSG00000106052:ENST00000409980:exon16:c.A2036G:p.D679G Score=573;Name=lod=283 NA 7p15.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.08 T 0.999 D 0.985 D 0.000 D 1.000 D 2.085 M 2.55 T -0.649 T 0.246 T 0.811 4.056 20.8 5.67 2.178 7.141 15.915 4.055665 4.055665 0 NA NA NA NA NA 17.3333334 2 1 1 2 73746975 73746975 A G exonic ALMS1 NA nonsynonymous SNV ALMS1:NM_015120:exon11:c.A9610G:p.T3204A exonic ENSG00000116127 NA nonsynonymous SNV ENSG00000116127:ENST00000409009:exon10:c.A9484G:p.T3162A,ENSG00000116127:ENST00000264448:exon11:c.A9610G:p.T3204A Score=459;Name=lod=98 NA 2p13.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008286 NA 0.01 D 0.999 D 0.996 D 0.000 D 1.000 D 1.525 L 2.69 T -1.141 T 0.075 T 0.775 4.154 21.5 5.62 2.277 4.868 12.513 4.153814 4.153814 0 NA NA NA NA NA 17.3333251 18 1 1 11 73809278 73809278 G C exonic C2CD3 NA nonsynonymous SNV C2CD3:NM_015531:exon16:c.C2755G:p.L919V exonic ENSG00000168014 NA nonsynonymous SNV ENSG00000168014:ENST00000313663:exon16:c.C2755G:p.L919V,ENSG00000168014:ENST00000334126:exon16:c.C2755G:p.L919V Score=652;Name=lod=593 NA 11q13.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008256 NA 0.13 T 0.998 D 0.996 D 0.000 D 1.000 D 2.26 M 0.23 T -0.331 T 0.408 T 0.756 4.852 27.7 5.62 2.794 5.570 19.625 4.852433 4.852433 0 NA NA NA NA NA 17.3333251 1 1 1 3 100605051 100605051 C A exonic ABI3BP NA nonsynonymous SNV ABI3BP:NM_015429:exon5:c.G599T:p.G200V exonic ENSG00000154175 NA nonsynonymous SNV ENSG00000154175:ENST00000527258:exon4:c.G356T:p.G119V,ENSG00000154175:ENST00000530539:exon4:c.G419T:p.G140V,ENSG00000154175:ENST00000284322:exon5:c.G599T:p.G200V,ENSG00000154175:ENST00000471714:exon5:c.G599T:p.G200V,ENSG00000154175:ENST00000495063:exon5:c.G599T:p.G200V Score=502;Name=lod=146 NA 3q12.2 NA NA NA NA rs199740093 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001666 NA 0.01 D 1.0 D 1.0 D 0.000 D 1.000 D 1.905 M 1.14 T -0.713 T 0.230 T 0.97 4.713 26.2 5.71 2.695 6.753 19.853 4.713332 4.713332 0 NA NA NA NA NA 17.3333167 4 1 1 14 45400737 45400737 G A exonic KLHL28 NA nonsynonymous SNV KLHL28:NM_017658:exon4:c.C1351T:p.R451C exonic ENSG00000179454 NA nonsynonymous SNV ENSG00000179454:ENST00000355081:exon4:c.C1393T:p.R465C,ENSG00000179454:ENST00000396128:exon4:c.C1351T:p.R451C Score=733;Name=lod=1274 NA 14q21.2 Score=834;Name=V$PAX3_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001687 NA 0.18 T 1.0 D 0.999 D 0.000 D 1.000 D 0.33 N -1.33 T -0.016 T 0.489 T 0.954 2.337 13.77 4.72 2.321 5.164 17.631 2.33746 2.33746 0.19 NA NA NA NA NA 17.3333165 1 1 1 17 33457364 33457364 C T exonic FNDC8 NA nonsynonymous SNV FNDC8:NM_017559:exon4:c.C886T:p.R296W exonic ENSG00000073598 NA nonsynonymous SNV ENSG00000073598:ENST00000158009:exon4:c.C886T:p.R296W Score=426;Name=lod=72 NA 17q12 Score=694;Name=V$PPARG_02 Name=Pol2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002472 NA 0 D 0.993 D 0.353 B 0.111 N 1.000 D 0.345 N 1.38 T -1.087 T 0.053 T 0.28 2.499 14.32 3.92 1.399 2.161 10.565 2.498818 2.498818 NA NA NA NA NA NA 17.3333087 3 1 1 19 13869786 13869786 G A exonic CCDC130 NA nonsynonymous SNV CCDC130:NM_030818:exon7:c.G362A:p.R121H exonic ENSG00000104957 NA nonsynonymous SNV ENSG00000104957:ENST00000589096:exon1:c.G65A:p.R22H,ENSG00000104957:ENST00000586666:exon6:c.G215A:p.R72H,ENSG00000104957:ENST00000221554:exon7:c.G362A:p.R121H,ENSG00000104957:ENST00000586600:exon8:c.G362A:p.R121H Score=529;Name=lod=188 NA 19p13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0000254 NA 0.12 T 1.0 D 0.996 D 0.000 D 1.000 D 2.295 M 1.46 T -0.822 T 0.194 T 0.761 5.029 29.7 5.06 2.645 8.591 15.954 5.028667 5.028667 0 NA NA ID=COSM991728;OCCURENCE=1(endometrium) NA NA 17.333308 2 1 1 1 26161677 26161677 C T exonic AUNIP NA nonsynonymous SNV AUNIP:NM_024037:exon3:c.G881A:p.G294D exonic ENSG00000127423 NA nonsynonymous SNV ENSG00000127423:ENST00000374298:exon3:c.G881A:p.G294D,ENSG00000127423:ENST00000538789:exon3:c.G881A:p.G294D Score=494;Name=lod=136 NA 1p36.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004123 NA 0 D 1.0 D 1.0 D 0.000 D 0.997 D 1.1 L -0.43 T -0.311 T 0.372 T 0.853 4.158 21.5 5.39 2.826 3.943 14.588 4.158297 4.158297 NA NA NA NA NA NA 17.3332922 1 1 1 5 172341813 172341813 G A exonic ERGIC1 NA nonsynonymous SNV ERGIC1:NM_001031711:exon5:c.G347A:p.R116H exonic ENSG00000113719 NA nonsynonymous SNV ENSG00000113719:ENST00000326654:exon3:c.G212A:p.R71H,ENSG00000113719:ENST00000518247:exon3:c.G212A:p.R71H,ENSG00000113719:ENST00000393784:exon5:c.G347A:p.R116H,ENSG00000113719:ENST00000520326:exon5:c.G347A:p.R116H,ENSG00000113719:ENST00000523291:exon5:c.G347A:p.R116H Score=567;Name=lod=269 NA 5q35.1 NA NA NA NA rs369010301 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008286 0.0001 0.02 D 1.0 D 0.999 D 0.000 D 1.000 D 2.375 M . . -0.042 T 0.465 T 0.942 5.204 33 5.37 2.505 9.356 18.749 5.204417 5.204417 0.01 0.000116 0 NA NA NA 17.3332091 2 1 1 1 161681057 161681057 C T exonic FCRLA NA nonsynonymous SNV FCRLA:NM_032738:exon3:c.C343T:p.R115C,FCRLA:NM_001184866:exon4:c.C361T:p.R121C exonic ENSG00000132185 NA nonsynonymous SNV ENSG00000132185:ENST00000236938:exon3:c.C343T:p.R115C,ENSG00000132185:ENST00000349527:exon3:c.C292T:p.R98C,ENSG00000132185:ENST00000367953:exon4:c.C310T:p.R104C,ENSG00000132185:ENST00000367959:exon4:c.C361T:p.R121C,ENSG00000132185:ENST00000540926:exon4:c.C310T:p.R104C Score=295;Name=lod=21 NA 1q23.3 Score=798;Name=V$PAX5_02 NA NA NA rs147592382 NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA 0.00009095 0.0002 0 D 1.0 D 0.949 D 0.541 N 1.000 D 3.42 M 2.6 T -0.952 T 0.087 T 0.495 3.694 18.77 4.07 1.312 1.376 9.271 3.694062 3.694062 0 0.000233 0 NA NA NA 17.3330094 1 1 1 6 128303989 128303989 T A exonic PTPRK NA nonsynonymous SNV PTPRK:NM_002844:exon24:c.A3524T:p.K1175M,PTPRK:NM_001135648:exon25:c.A3542T:p.K1181M exonic ENSG00000152894 NA nonsynonymous SNV ENSG00000152894:ENST00000368215:exon24:c.A3521T:p.K1174M,ENSG00000152894:ENST00000368226:exon24:c.A3524T:p.K1175M,ENSG00000152894:ENST00000368213:exon25:c.A3542T:p.K1181M,ENSG00000152894:ENST00000368227:exon25:c.A3575T:p.K1192M,ENSG00000152894:ENST00000368210:exon26:c.A3578T:p.K1193M,ENSG00000152894:ENST00000532331:exon27:c.A3590T:p.K1197M,ENSG00000152894:ENST00000368207:exon28:c.A3620T:p.K1207M Score=583;Name=lod=312 NA 6q22.33 NA NA NA NA rs144386522 NA NA NA 0.000599042 NA NA NA NA 0.0031 NA NA NA NA 0.0004 0.0003 0 D 0.999 D 0.984 D 0.000 D 1.000 D 1.935 M 1.54 T -0.906 T 0.137 T 0.833 4.502 24.2 5.98 2.289 8.040 16.456 4.502096 4.502096 0 0.000349 0 NA NA NA 17.3325844 4 1 1 4 79432453 79432453 G A exonic FRAS1 NA nonsynonymous SNV FRAS1:NM_025074:exon64:c.G9806A:p.R3269Q exonic ENSG00000138759 NA nonsynonymous SNV ENSG00000138759:ENST00000264895:exon64:c.G9806A:p.R3269Q Score=627;Name=lod=469 NA 4q21.21 NA NA NA NA rs61729366 0.0037 0.0037 0.004 0.00139776 0.006 NA NA 0.0008 NA 0.01 NA NA 0.002 0.0057 0.011 0.04 D 1.0 D 0.999 D 0.000 D 1.000 D 2.175 M 2.46 T -1.046 T 0.097 T 0.758 5.455 35 5.7 2.698 9.657 19.831 5.454638 5.454638 0 0.009813 0.00119 NA 0.007 NA 17.3118204 12 1 1 16 16295863 16295863 T C exonic ABCC6 NA nonsynonymous SNV ABCC6:NM_001171:exon9:c.A1171G:p.R391G exonic ENSG00000091262 NA nonsynonymous SNV ENSG00000091262:ENST00000205557:exon9:c.A1171G:p.R391G,ENSG00000091262:ENST00000456970:exon9:c.A1171G:p.R391G Score=537;Name=lod=203 NA 16p13.11 NA Name=PU.1 NA NA rs72653762 0.0032 0.0032 NA 0.00279553 0.0099 NA 0.0029 NA 0.002 0.01 NA 0.0028 NA 0.0061 0.01 0 D 1.0 D 1.0 D 0.000 U 1.000 D 2.68 M -2.8 D 0.533 D 0.760 D 0.972 2.833 15.44 1.8 0.510 0.549 9.238 2.832967 2.832967 0 0.009186 0.001821 NA NA NA 17.3081474 7 1 1 4 154279631 154279631 A G exonic MND1 NA nonsynonymous SNV MND1:NM_001253861:exon4:c.A133G:p.M45V,MND1:NM_032117:exon4:c.A133G:p.M45V exonic ENSG00000121211 NA nonsynonymous SNV ENSG00000121211:ENST00000504860:exon3:c.A88G:p.M30V,ENSG00000121211:ENST00000240488:exon4:c.A133G:p.M45V,ENSG00000121211:ENST00000508731:exon4:c.A88G:p.M30V,ENSG00000121211:ENST00000509752:exon4:c.A133G:p.M45V Score=603;Name=lod=377 NA 4q31.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.06 T 0.973 D 0.848 P 0.000 D 1.000 D 2.34 M . . -0.224 T 0.395 T 0.896 2.993 15.98 5.7 2.165 7.047 15.959 2.992863 2.992863 0.03 NA NA NA NA NA 16.8333334 1 1 1 11 92531088 92531088 T A exonic FAT3 NA nonsynonymous SNV FAT3:NM_001008781:exon9:c.T4909A:p.F1637I exonic ENSG00000165323 NA nonsynonymous SNV ENSG00000165323:ENST00000298047:exon9:c.T4909A:p.F1637I,ENSG00000165323:ENST00000409404:exon9:c.T4909A:p.F1637I,ENSG00000165323:ENST00000525166:exon9:c.T4459A:p.F1487I Score=435;Name=lod=78 NA 11q14.3 Score=836;Name=V$ER_Q6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.01 D 0.962 D 0.604 P . . 1.000 D 1.54 L 0.64 T -0.787 T 0.177 T 0.605 3.834 19.47 5.81 2.224 7.975 16.167 3.83398 3.83398 0.01 NA NA NA NA NA 16.8333334 7 1 1 16 24834847 24834847 C A exonic TNRC6A NA nonsynonymous SNV TNRC6A:NM_014494:exon25:c.C5608A:p.P1870T exonic ENSG00000090905 NA nonsynonymous SNV ENSG00000090905:ENST00000432286:exon8:c.C1042A:p.P348T,ENSG00000090905:ENST00000450465:exon18:c.C2440A:p.P814T,ENSG00000090905:ENST00000315183:exon24:c.C5461A:p.P1821T,ENSG00000090905:ENST00000395799:exon25:c.C5608A:p.P1870T Score=695;Name=lod=890 NA 16p12.1 Score=745;Name=V$MYOGNF1_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.17 T 0.976 D 0.761 P 0.000 D 1.000 D 0.415 N 2.76 T -0.681 T 0.204 T 0.468 1.806 12 5.64 2.638 3.601 19.710 1.806007 1.806007 0.47 NA NA NA NA NA 16.8333334 2 1 1 2 209010521 209010521 G A exonic CRYGB NA nonsynonymous SNV CRYGB:NM_005210:exon2:c.C229T:p.R77C exonic ENSG00000182187 NA nonsynonymous SNV ENSG00000182187:ENST00000260988:exon2:c.C229T:p.R77C Score=464;Name=lod=103 NA 2q34 Score=801;Name=V$TCF11MAFG_01 NA NA NA rs201502749 0.0005 0.0005 NA 0.000199681 NA 0.001 NA NA NA NA 0.0017 NA NA 0.00004222 0.0017 0.04 D 0.777 P 0.343 B 0.000 D 1.000 D 2.71 M -1.05 T -0.125 T 0.427 T 0.413 2.277 13.57 2.74 1.314 1.516 10.103 2.276697 2.276697 0.05 NA NA ID=COSM573104;OCCURENCE=1(lung) NA NA 16.8332912 2 1 1 3 54933874 54933874 C T exonic CACNA2D3 NA nonsynonymous SNV CACNA2D3:NM_018398:exon27:c.C2428T:p.R810W exonic ENSG00000157445 NA nonsynonymous SNV ENSG00000157445:ENST00000490478:exon26:c.C2146T:p.R716W,ENSG00000157445:ENST00000288197:exon27:c.C2428T:p.R810W,ENSG00000157445:ENST00000474759:exon27:c.C2428T:p.R810W,ENSG00000157445:ENST00000415676:exon28:c.C2428T:p.R810W Score=537;Name=lod=203 NA 3p14.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00009301 NA 0.03 D 0.998 D 0.644 P 0.000 D 1.000 D 1.245 L -0.53 T -0.497 T 0.291 T 0.837 4.382 23.2 4.63 2.624 3.589 10.541 4.381507 4.381507 0.02 NA NA NA NA NA 16.8332404 9 2 1 1 202126900 202126900 C T exonic PTPN7 NA nonsynonymous SNV PTPN7:NM_080588:exon3:c.G475A:p.A159T,PTPN7:NM_001199797:exon4:c.G580A:p.A194T,PTPN7:NM_002832:exon4:c.G673A:p.A225T exonic ENSG00000143851 NA nonsynonymous SNV ENSG00000143851:ENST00000367279:exon3:c.G475A:p.A159T,ENSG00000143851:ENST00000308986:exon4:c.G358A:p.A120T,ENSG00000143851:ENST00000309017:exon4:c.G673A:p.A225T,ENSG00000143851:ENST00000435759:exon4:c.G377A:p.R126H,ENSG00000143851:ENST00000464870:exon4:c.G358A:p.A120T,ENSG00000143851:ENST00000467283:exon4:c.G355A:p.A119T,ENSG00000143851:ENST00000476061:exon4:c.G355A:p.A119T,ENSG00000143851:ENST00000477554:exon4:c.G601A:p.A201T,ENSG00000143851:ENST00000486116:exon4:c.G358A:p.A120T,ENSG00000143851:ENST00000495688:exon4:c.G358A:p.A120T,ENSG00000143851:ENST00000496197:exon4:c.G305A:p.R102H Score=516;Name=lod=167 NA 1q32.1 Score=761;Name=V$P53_01 NA Name=3 NA rs149783764 0.0005 0.0005 NA 0.000399361 0.002 NA NA NA NA 0.0013 NA NA NA 0.0004 0.0013 0.11 T 0.983 D 0.713 P 0.000 D 1.000 D 0.945 L 2.76 T -0.603 T 0.237 T 0.549 2.399 13.98 5.18 2.400 1.862 18.677 2.399048 2.399048 0.08 0.000349 0.000227 NA NA NA 16.8305844 4 2 1 2 179597590 179597590 T C exonic TTN NA nonsynonymous SNV TTN:NM_133378:exon52:c.A12581G:p.K4194R,TTN:NM_001256850:exon53:c.A15362G:p.K5121R,TTN:NM_001267550:exon55:c.A16313G:p.K5438R exonic ENSG00000155657 NA nonsynonymous SNV ENSG00000155657:ENST00000342992:exon52:c.A12581G:p.K4194R,ENSG00000155657:ENST00000591111:exon53:c.A15362G:p.K5121R,ENSG00000155657:ENST00000589042:exon55:c.A16313G:p.K5438R Score=463;Name=lod=102 NA 2q31.2 Score=777;Name=V$HEN1_01 NA NA NA rs190636272 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0008 0.0013 0 D 0.98 D 0.819 P . . 1.000 D 0.3 N -0.26 T -0.428 T 0.279 T 0.468 2.052 12.82 6.17 2.371 6.036 16.822 2.051998 2.051998 NA 0.000964 0.000254 NA NA CLINSIG=unknown;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039885.1;CLNDSDB=.;CLNDSDBID=. 16.8305694 11 4 4 4 57829669 57829669 G A exonic NOA1 NA nonsynonymous SNV NOA1:NM_032313:exon7:c.C2044T:p.P682S exonic ENSG00000084092 NA nonsynonymous SNV ENSG00000084092:ENST00000264230:exon7:c.C2044T:p.P682S Score=439;Name=lod=81 NA 4q12 NA NA NA NA rs61747375 0.0027 0.0027 NA 0.00379393 0.004 NA 0.0043 NA 0.0123 0.01 NA 0.01 NA 0.0031 0.011 0.01 D 0.997 D 0.861 P 0.000 D 1.000 D 2.585 M 1.1 T -0.540 T 0.211 T 0.246 3.875 19.69 5.41 2.681 5.124 19.159 3.875361 3.875361 0 0.002326 0.001135 NA 0.007 NA 16.8239074 2 1 1 17 17697404 17697404 C T exonic RAI1 NA nonsynonymous SNV RAI1:NM_030665:exon3:c.C1142T:p.A381V exonic ENSG00000108557 NA nonsynonymous SNV ENSG00000108557:ENST00000261641:exon1:c.C1142T:p.A381V,ENSG00000108557:ENST00000395774:exon2:c.C1142T:p.A381V,ENSG00000108557:ENST00000353383:exon3:c.C1142T:p.A381V Score=422;Name=lod=69 NA 17p11.2 NA NA NA NA rs113208290 0.01 0.01 NA 0.00299521 0.0109 NA 0.0043 NA 0.001 0.01 NA 0.01 NA 0.0036 0.011 0.04 D 0.976 D 0.696 P 0.005 N 1.000 D 1.935 M 1.44 T -0.975 T 0.106 T 0.67 3.01 16.04 5.55 2.621 3.141 19.494 3.010211 3.010211 0.01 0.004651 0.001589 NA 0.007 CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000082255.3;CLNDSDB=.;CLNDSDBID=. 16.8141824 1 1 1 2 170029657 170029657 C T exonic LRP2 NA nonsynonymous SNV LRP2:NM_004525:exon57:c.G11092A:p.V3698M exonic ENSG00000081479 NA nonsynonymous SNV ENSG00000081479:ENST00000263816:exon57:c.G11092A:p.V3698M Score=429;Name=lod=74 NA 2q31.1 Score=830;Name=V$CHOP_01 NA NA NA rs34355135 0.0041 0.0041 0.005 0.00379393 0.006 NA 0.0115 NA 0.0051 0.01 NA 0.01 0.0041 0.0055 0.01 0.23 T 0.607 P 0.145 B 0.000 N 1.000 D 3.27 M -3.93 D 0.063 D 0.724 D 0.149 1.279 10.18 -0.879 -0.167 1.262 3.473 1.279458 1.279458 0.04 0.007791 0.001589 NA NA CLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000117500.1;CLNDSDB=.;CLNDSDBID=. 16.8140424 19 2 1 9 8465666 8465666 C G exonic PTPRD NA nonsynonymous SNV PTPRD:NM_001171025:exon14:c.G2251C:p.E751Q,PTPRD:NM_001040712:exon15:c.G2272C:p.E758Q,PTPRD:NM_130393:exon15:c.G2266C:p.E756Q,PTPRD:NM_130391:exon16:c.G2281C:p.E761Q,PTPRD:NM_130392:exon16:c.G2281C:p.E761Q,PTPRD:NM_002839:exon32:c.G3514C:p.E1172Q exonic ENSG00000153707 NA nonsynonymous SNV ENSG00000153707:ENST00000397606:exon14:c.G2251C:p.E751Q,ENSG00000153707:ENST00000397617:exon14:c.G2251C:p.E751Q,ENSG00000153707:ENST00000537002:exon14:c.G2272C:p.E758Q,ENSG00000153707:ENST00000397611:exon15:c.G2272C:p.E758Q,ENSG00000153707:ENST00000355233:exon16:c.G2281C:p.E761Q,ENSG00000153707:ENST00000486161:exon16:c.G2281C:p.E761Q,ENSG00000153707:ENST00000358503:exon17:c.G3448C:p.E1150Q,ENSG00000153707:ENST00000360074:exon18:c.G3475C:p.E1159Q,ENSG00000153707:ENST00000356435:exon21:c.G3514C:p.E1172Q,ENSG00000153707:ENST00000540109:exon21:c.G3514C:p.E1172Q,ENSG00000153707:ENST00000381196:exon29:c.G3514C:p.E1172Q Score=616;Name=lod=425 NA 9p24.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA . . 0.981 D 0.932 D 0.000 D 1.000 D 1.78 L 0.91 T -0.619 T 0.306 T 0.782 4.144 21.4 5.5 2.746 7.445 19.757 4.144176 4.144176 0.25 NA NA NA NA NA 16.3333334 7 2 1 19 9296702 9296702 T C exonic OR7D2 NA nonsynonymous SNV OR7D2:NM_175883:exon1:c.T245C:p.L82P exonic ENSG00000188000 NA nonsynonymous SNV ENSG00000188000:ENST00000344248:exon1:c.T245C:p.L82P NA NA 19p13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 D 0.999 D 0.967 D 0.007 U 0.992 D 4.13 H 7.41 T -1.048 T 0.006 T 0.809 2.851 15.5 2.21 1.296 6.633 9.517 2.85105 2.85105 0 NA NA NA NA NA 16.3333334 2 1 1 6 35258481 35258481 G T exonic ZNF76 NA nonsynonymous SNV ZNF76:NM_003427:exon7:c.G613T:p.A205S exonic ENSG00000065029 NA nonsynonymous SNV ENSG00000065029:ENST00000440666:exon6:c.G535T:p.A179S,ENSG00000065029:ENST00000339411:exon7:c.G613T:p.A205S,ENSG00000065029:ENST00000373953:exon7:c.G613T:p.A205S,ENSG00000065029:ENST00000469195:exon7:c.G613T:p.A205S Score=589;Name=lod=329 NA 6p21.31 Score=960;Name=V$CEBP_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008238 NA 0.4 T 0.956 P 0.622 P 0.000 D 0.962 D 1.01 L 1.28 T -1.145 T 0.056 T 0.309 3.213 16.76 5.36 2.797 5.944 13.575 3.212611 3.212611 0.18 NA NA NA NA NA 16.3333252 5 2 2 5 140209598 140209598 A T exonic PCDHA6 NA nonsynonymous SNV PCDHA6:NM_018909:exon1:c.A1922T:p.D641V,PCDHA6:NM_031848:exon1:c.A1922T:p.D641V exonic ENSG00000081842 NA nonsynonymous SNV ENSG00000081842:ENST00000529310:exon1:c.A1922T:p.D641V Score=259;Name=lod=15 NA 5q31.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002487 NA 0 D 0.998 D 0.96 D 0.002 U 1.000 D 2.035 M 0.74 T -0.681 T 0.236 T 0.612 1.748 11.8 2.8 0.692 8.187 9.474 1.747703 1.747703 0 NA NA NA NA NA 16.3333085 3 3 3 14 39868794 39868794 C T exonic FBXO33 NA nonsynonymous SNV FBXO33:NM_203301:exon4:c.G1594A:p.E532K exonic ENSG00000165355 NA nonsynonymous SNV ENSG00000165355:ENST00000298097:exon4:c.G1594A:p.E532K Score=654;Name=lod=609 NA 14q21.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003489 NA . . 0.999 D 0.972 D 0.000 D 1.000 D 0.345 N 0.89 T -0.935 T 0.153 T 0.653 2.384 13.93 5.85 2.767 4.383 20.154 2.384205 2.384205 0 NA NA NA NA NA 16.3332985 3 1 1 6 155606327 155606327 T C exonic TFB1M NA nonsynonymous SNV TFB1M:NM_016020:exon5:c.A631G:p.T211A exonic ENSG00000029639 NA nonsynonymous SNV ENSG00000029639:ENST00000367166:exon5:c.A631G:p.T211A Score=336;Name=lod=31 NA 6q25.3 Score=752;Name=V$STAT3_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00009887 NA 0.74 T 0.372 B 0.216 B 0.001 D 0.999 D 2.045 M 1.58 T -1.100 T 0.042 T 0.431 1.667 11.53 5.9 2.254 2.609 12.174 1.666688 1.666688 0.94 NA NA NA NA NA 16.3332345 2 1 1 18 21104425 21104425 A G exonic C18orf8 NA nonsynonymous SNV C18orf8:NM_001276342:exon10:c.A895G:p.I299V,C18orf8:NM_013326:exon12:c.A1039G:p.I347V exonic ENSG00000141452 NA nonsynonymous SNV ENSG00000141452:ENST00000590868:exon10:c.A895G:p.I299V,ENSG00000141452:ENST00000269221:exon12:c.A1039G:p.I347V Score=525;Name=lod=182 NA 18q11.2 NA NA NA NA rs147982431 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 0.001 0.22 T 0.994 D 0.978 D 0.000 D 1.000 D 2.14 M . . -0.304 T 0.408 T 0.526 4.538 24.5 5.4 2.032 8.857 15.412 4.538377 4.538377 0 0.001047 0 NA NA NA 16.3320864 3 1 1 3 57303603 57303603 C G exonic APPL1 NA nonsynonymous SNV APPL1:NM_012096:exon22:c.C2018G:p.S673C exonic ENSG00000157500 NA nonsynonymous SNV ENSG00000157500:ENST00000288266:exon22:c.C2018G:p.S673C Score=689;Name=lod=844 NA 3p14.3 NA NA NA NA rs138485817 0.0005 0.0005 NA 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA 0.0006 0.0028 0.02 D 0.999 D 0.99 D 0.000 D 1.000 D 0.975 L 2.74 T -1.150 T 0.076 T 0.587 2.898 15.66 5.65 2.817 7.436 20.078 2.897885 2.897885 0.01 0.001977 0 NA NA NA 16.3307564 1 1 1 13 46538118 46538118 G T exonic ZC3H13 NA nonsynonymous SNV ZC3H13:NM_015070:exon17:c.C4534A:p.P1512T exonic ENSG00000123200 NA nonsynonymous SNV ENSG00000123200:ENST00000378921:exon4:c.C1399A:p.P467T,ENSG00000123200:ENST00000242848:exon17:c.C4531A:p.P1511T,ENSG00000123200:ENST00000282007:exon17:c.C4534A:p.P1512T Score=635;Name=lod=507 NA 13q14.13 NA NA NA NA rs143461574 0.0009 0.0009 NA 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA 0.0007 0.0026 0 D 1.0 D 0.999 D 0.000 D 1.000 D 1.7 L 2.3 T -0.557 T 0.286 T 0.695 3.7 18.8 5.73 2.713 5.284 19.898 3.70006 3.70006 0 0.000465 0 NA NA NA 16.3301684 1 1 1 2 101643904 101643904 C G exonic TBC1D8 NA nonsynonymous SNV TBC1D8:NM_001102426:exon15:c.G2416C:p.V806L exonic ENSG00000204634 NA nonsynonymous SNV ENSG00000204634:ENST00000376840:exon15:c.G2416C:p.V806L,ENSG00000204634:ENST00000409318:exon15:c.G2461C:p.V821L Score=295;Name=lod=21 NA 2q11.2 Score=759;Name=V$STAT3_01 NA NA NA rs201720097 0.0009 0.0009 NA 0.000599042 0.002 NA NA NA 0.001 0.0026 NA NA NA 0.0007 0.0026 0.81 T 1.0 D 0.998 D 0.000 D 0.945 D 1.78 L 0.82 T -0.787 T 0.238 T 0.511 3.891 19.78 5.18 2.554 3.810 17.238 3.891088 3.891088 0.01 0.000484 0 NA NA NA 16.3301494 7 1 1 4 70361182 70361182 T C exonic UGT2B4 NA nonsynonymous SNV UGT2B4:NM_021139:exon1:c.A398G:p.N133S exonic ENSG00000156096 NA nonsynonymous SNV ENSG00000156096:ENST00000305107:exon1:c.A398G:p.N133S,ENSG00000156096:ENST00000512583:exon1:c.A398G:p.N133S Score=272;Name=lod=17 NA 4q13.2 NA NA NA NA rs181603790 0.0014 0.0014 NA 0.000998403 NA NA 0.0058 0.0008 NA NA NA 0.01 NA 0.0016 0.01 0.05 D 1.0 D 0.999 D 0.003 U 0.999 D 2.305 M -0.06 T -0.445 T 0.293 T 0.038 1.7 11.64 2.4 1.101 3.264 8.360 1.699937 1.699937 0.03 0.002234 0.00048 NA NA NA 16.3294994 1 1 1 13 53049198 53049198 G C exonic CKAP2 NA nonsynonymous SNV CKAP2:NM_001098525:exon9:c.G1974C:p.L658F,CKAP2:NM_018204:exon9:c.G1971C:p.L657F exonic ENSG00000136108 NA nonsynonymous SNV ENSG00000136108:ENST00000258607:exon9:c.G1971C:p.L657F,ENSG00000136108:ENST00000378037:exon9:c.G1974C:p.L658F,ENSG00000136108:ENST00000490903:exon9:c.G1827C:p.L609F Score=340;Name=lod=32 NA 13q14.3 Score=947;Name=V$LYF1_01 NA NA NA rs34624748 0 0 NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.002 0.002 0.01 D 1.0 D 0.996 D 0.000 D 1.000 D 2.485 M 1.69 T -0.804 T 0.159 T 0.574 3.047 16.17 3.86 0.607 0.748 9.738 3.047053 3.047053 0 0.001977 0 NA NA NA 16.3283564 3 1 1 9 94486381 94486381 G A exonic ROR2 NA nonsynonymous SNV ROR2:NM_004560:exon9:c.C2395T:p.P799S exonic ENSG00000169071 NA nonsynonymous SNV ENSG00000169071:ENST00000375708:exon9:c.C2395T:p.P799S Score=563;Name=lod=260 NA 9q22.31 Score=824;Name=V$CEBP_C NA NA NA rs141235720 NA NA NA 0.000399361 0.001 NA NA 0.0008 NA NA NA NA NA 0.0021 0.0034 0.33 T 1.0 D 0.996 D 0.001 D 1.000 D 0.805 L -1.13 T -0.210 T 0.474 T 0.467 2.77 15.22 4.65 2.415 4.347 17.751 2.770186 2.770186 0.19 0.003372 0.000908 ID=COSM48755;OCCURENCE=1(lung),1(large_intestine) NA NA 16.3268614 6 2 2 9 134308126 134308126 G A exonic PRRC2B NA nonsynonymous SNV PRRC2B:NM_013318:exon2:c.G238A:p.V80I exonic ENSG00000130723 NA nonsynonymous SNV ENSG00000130723:ENST00000357304:exon2:c.G238A:p.V80I,ENSG00000130723:ENST00000458550:exon2:c.G238A:p.V80I,ENSG00000130723:ENST00000405995:exon3:c.G238A:p.V80I Score=720;Name=lod=1122 NA 9q34.13 NA NA NA NA rs41302675 0.0018 0.0018 0 0.00139776 0.003 NA 0.0043 NA 0.001 0.004 NA 0.0028 NA 0.0038 0.004 0.02 D 0.997 D 0.992 D 0.002 U 1.000 D 2.7 M 1.08 T -0.418 T 0.323 T 0.589 5.537 35 6.03 2.861 9.476 19.545 5.537088 5.537088 0 0.002959 0.001207 NA NA NA 16.3235744 6 2 2 5 140362125 140362125 C G exonic PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2 NA nonsynonymous SNV PCDHAC1:NM_018898:exon3:c.C2558G:p.P853R,PCDHAC2:NM_018899:exon3:c.C2690G:p.P897R,PCDHA1:NM_018900:exon3:c.C2519G:p.P840R,PCDHA10:NM_018901:exon3:c.C2513G:p.P838R,PCDHA11:NM_018902:exon3:c.C2516G:p.P839R,PCDHA12:NM_018903:exon3:c.C2492G:p.P831R,PCDHA13:NM_018904:exon3:c.C2519G:p.P840R,PCDHA2:NM_018905:exon3:c.C2513G:p.P838R,PCDHA3:NM_018906:exon3:c.C2519G:p.P840R,PCDHA4:NM_018907:exon3:c.C2510G:p.P837R,PCDHA5:NM_018908:exon3:c.C2477G:p.P826R,PCDHA6:NM_018909:exon3:c.C2519G:p.P840R,PCDHA7:NM_018910:exon3:c.C2480G:p.P827R,PCDHA8:NM_018911:exon3:c.C2519G:p.P840R,PCDHA1:NM_031411:exon3:c.C1727G:p.P576R,PCDHA6:NM_031849:exon3:c.C1727G:p.P576R,PCDHA9:NM_031857:exon3:c.C2519G:p.P840R,PCDHA10:NM_031860:exon3:c.C1724G:p.P575R exonic ENSG00000081842,ENSG00000204961,ENSG00000204962,ENSG00000204963,ENSG00000204965,ENSG00000204967,ENSG00000204969,ENSG00000204970,ENSG00000239389,ENSG00000243232,ENSG00000248383,ENSG00000249158,ENSG00000250120,ENSG00000251664,ENSG00000255408 NA nonsynonymous SNV ENSG00000248383:ENST00000253807:exon3:c.C2558G:p.P853R,ENSG00000243232:ENST00000289269:exon3:c.C2690G:p.P897R,ENSG00000239389:ENST00000289272:exon3:c.C2519G:p.P840R,ENSG00000250120:ENST00000307360:exon3:c.C2513G:p.P838R,ENSG00000204970:ENST00000394633:exon3:c.C1727G:p.P576R,ENSG00000251664:ENST00000398631:exon3:c.C2492G:p.P831R,ENSG00000249158:ENST00000398640:exon3:c.C2516G:p.P839R,ENSG00000239389:ENST00000409494:exon3:c.C2519G:p.P840R,ENSG00000204970:ENST00000504120:exon3:c.C2519G:p.P840R,ENSG00000250120:ENST00000506939:exon3:c.C1724G:p.P575R,ENSG00000204967:ENST00000512229:exon3:c.C2510G:p.P837R,ENSG00000255408:ENST00000522353:exon3:c.C2519G:p.P840R,ENSG00000204963:ENST00000525929:exon3:c.C2480G:p.P827R,ENSG00000204969:ENST00000526136:exon3:c.C2513G:p.P838R,ENSG00000081842:ENST00000527624:exon3:c.C1727G:p.P576R,ENSG00000081842:ENST00000529310:exon3:c.C2519G:p.P840R,ENSG00000204965:ENST00000529619:exon3:c.C2477G:p.P826R,ENSG00000204965:ENST00000529859:exon3:c.C2477G:p.P826R,ENSG00000204967:ENST00000530339:exon3:c.C2510G:p.P837R,ENSG00000204962:ENST00000531613:exon3:c.C2519G:p.P840R,ENSG00000204961:ENST00000532602:exon3:c.C2519G:p.P840R Score=608;Name=lod=396 NA 5q31.3 NA Name=POU2F2,Oct-2,PU.1,Pbx3 NA NA rs79247475 0.0023 0.0023 NA 0.00159744 0.005 NA NA NA 0.0031 0.01 NA NA NA 0.0055 0.011 0.08 T 1.0 D 0.998 D 0.001 D 1.000 D 1.845 L 0.78 T -0.605 T 0.247 T 0.913 4.546 24.6 5.9 2.802 4.950 17.179 4.545576 4.545576 0 0.004302 0.000454 NA 0.007 NA 16.3185314 3 3 3 2 242742842 242742842 A G exonic GAL3ST2 NA nonsynonymous SNV GAL3ST2:NM_022134:exon4:c.A458G:p.Y153C exonic ENSG00000154252 NA nonsynonymous SNV ENSG00000154252:ENST00000192314:exon4:c.A458G:p.Y153C Score=340;Name=lod=32 NA 2q37.3 NA Name=Egr-1 NA NA rs139344622 0.0005 0.0005 NA 0.00119808 0.003 NA 0.0029 NA 0.001 NA NA 0.0028 NA 0.0051 0.008 0 D 1.0 D 0.988 D 0.011 N 0.877 N 3.46 M 1.7 T -0.689 T 0.166 T 0.872 3.283 17.02 3.83 1.737 5.339 13.089 3.28302 3.28302 0 0.008025 0.001589 NA 0.007 NA 16.3172084 2 1 1 20 51871502 51871502 G A exonic TSHZ2 NA nonsynonymous SNV TSHZ2:NM_001193421:exon2:c.G1496A:p.R499K,TSHZ2:NM_173485:exon2:c.G1505A:p.R502K exonic ENSG00000182463 NA nonsynonymous SNV ENSG00000182463:ENST00000329613:exon2:c.G1496A:p.R499K,ENSG00000182463:ENST00000371497:exon2:c.G1505A:p.R502K,ENSG00000182463:ENST00000603338:exon2:c.G1496A:p.R499K Score=488;Name=lod=128 NA 20q13.2 NA NA NA NA rs45479792 0.0041 0.0041 NA 0.00299521 0.008 NA 0.0072 0.0008 0.001 0.01 NA 0.01 0.002 0.0066 0.01 0.11 T 0.994 D 0.97 D 0.000 D 1.000 D 2.31 M 1.6 T -0.800 T 0.148 T 0.581 3.908 19.87 4.98 1.482 7.604 17.083 3.907598 3.907598 0.02 0.007558 0.002043 NA NA NA 16.3111754 5 2 2 10 101591737 101591737 T C exonic ABCC2 NA nonsynonymous SNV ABCC2:NM_000392:exon23:c.T3107C:p.I1036T exonic ENSG00000023839 NA nonsynonymous SNV ENSG00000023839:ENST00000370449:exon23:c.T3107C:p.I1036T NA NA 10q24.2 NA NA NA NA rs45441199 0.0027 0.0027 0.002 0.00219649 0.0099 NA 0.0014 NA NA 0.01 NA 0.0028 NA 0.0053 0.01 0.03 D 0.316 B 0.232 B 0.510 N 1.000 D 1.985 M -3.61 D 0.452 D 0.762 D 0.316 2.093 12.96 5.64 2.149 2.195 15.833 2.093462 2.093462 0.04 0.008721 0.001362 NA 0.014 NA 16.3094124 4 1 1 10 82363337 82363337 C T exonic SH2D4B NA nonsynonymous SNV SH2D4B:NM_001145719:exon5:c.C499T:p.R167C,SH2D4B:NM_207372:exon5:c.C646T:p.R216C exonic ENSG00000178217 NA nonsynonymous SNV ENSG00000178217:ENST00000313455:exon5:c.C499T:p.R167C,ENSG00000178217:ENST00000339284:exon5:c.C646T:p.R216C,ENSG00000178217:ENST00000470604:exon5:c.C643T:p.R215C Score=361;Name=lod=39 NA 10q23.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 NA 0.05 D 0.581 P 0.123 B 0.000 N 1.000 D 2.24 M 1.97 T -1.087 T 0.059 T 0.554 3.44 17.64 5.12 1.567 3.181 12.934 3.43968 3.43968 0.08 NA NA NA NA NA 15.8333334 4 1 1 1 36755247 36755247 G A exonic THRAP3 NA nonsynonymous SNV THRAP3:NM_005119:exon5:c.G1627A:p.E543K exonic ENSG00000054118 NA nonsynonymous SNV ENSG00000054118:ENST00000354618:exon5:c.G1627A:p.E543K,ENSG00000054118:ENST00000469141:exon6:c.G1627A:p.E543K Score=512;Name=lod=160 NA 1p34.3 Score=739;Name=V$SEF1_C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0000083 NA 0.08 T 0.486 P 0.356 B 0.000 D 1.000 D 1.525 L 2.55 T -1.178 T 0.052 T 0.491 3.876 19.69 6.06 2.882 7.827 19.609 3.875563 3.875563 0.01 NA NA NA NA NA 15.8333251 1 1 1 14 105413326 105413326 G A exonic AHNAK2 NA nonsynonymous SNV AHNAK2:NM_138420:exon7:c.C8462T:p.P2821L exonic ENSG00000185567 NA nonsynonymous SNV ENSG00000185567:ENST00000333244:exon7:c.C8462T:p.P2821L Score=431;Name=lod=75 NA 14q32.33 NA NA NA NA rs369899617 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004142 0.0003 0.01 D 0.998 D 0.827 P . . 1.000 D 3.64 H 4.6 T -0.969 T 0.038 T 0.287 2.279 13.58 3.64 1.581 4.333 14.976 2.278753 2.278753 0 0 0.000254 ID=COSM953891;OCCURENCE=1(endometrium) NA NA 15.833292 3 2 1 10 5011081 5011081 A T exonic AKR1C1 NA nonsynonymous SNV AKR1C1:NM_001353:exon5:c.A515T:p.Q172L exonic ENSG00000187134 NA nonsynonymous SNV ENSG00000187134:ENST00000380859:exon5:c.A521T:p.Q174L,ENSG00000187134:ENST00000380872:exon5:c.A515T:p.Q172L,ENSG00000187134:ENST00000434459:exon10:c.A515T:p.Q172L Score=487;Name=lod=127 NA 10p15.1 Score=959;Name=V$MYOD_Q6 Name=Pol2 NA NA rs11474 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00006589 NA 0.05 D 0.111 B 0.448 P 0.006 N 0.999 D 1.405 L 1.79 T -0.913 T 0.178 T 0.699 1.79 11.95 2.1 1.209 4.413 8.103 1.79043 1.79043 0.04 NA NA NA NA NA 15.8332675 2 1 1 12 56629033 56629033 C T exonic SLC39A5 NA nonsynonymous SNV SLC39A5:NM_001135195:exon5:c.C727T:p.R243W,SLC39A5:NM_173596:exon7:c.C727T:p.R243W exonic ENSG00000139540 NA nonsynonymous SNV ENSG00000139540:ENST00000266980:exon5:c.C727T:p.R243W,ENSG00000139540:ENST00000436633:exon7:c.C640T:p.R214W,ENSG00000139540:ENST00000454355:exon7:c.C727T:p.R243W Score=615;Name=lod=421 NA 12q13.3 NA NA NA NA rs147133811 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00008886 0.0007 0 D 0.998 D 0.88 P 0.008 N 0.994 D 2.18 M 0.74 T -0.148 T 0.388 T 0.478 3.387 17.43 4.44 2.420 3.808 16.703 3.38651 3.38651 0 0 0.000681 NA NA NA 15.8332445 3 2 1 1 232942679 232942679 T C exonic MAP10 NA nonsynonymous SNV MAP10:NM_019090:exon1:c.T1910C:p.L637P exonic ENSG00000212916 NA nonsynonymous SNV ENSG00000212916:ENST00000418460:exon1:c.T1910C:p.L637P Score=265;Name=lod=16 NA 1q42.2 NA NA NA NA rs202096626 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0005 0.0006 0 D 0.998 D 0.9 P 0.008 U 1.000 D 2.175 M . . -0.370 T 0.324 T 0.948 3.052 16.19 4.87 2.291 4.898 11.556 3.051735 3.051735 0 0.000613 0 NA NA NA 15.8322204 1 1 1 1 36553609 36553609 G A exonic TEKT2 NA nonsynonymous SNV TEKT2:NM_014466:exon10:c.G1115A:p.R372Q exonic ENSG00000092850 NA nonsynonymous SNV ENSG00000092850:ENST00000207457:exon10:c.G1115A:p.R372Q Score=539;Name=lod=207 NA 1p34.3 NA Name=Max Name=5 NA rs141119805 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0007 0.0007 0.39 T 0.997 D 0.728 P 0.003 N 0.987 D 1.305 L 4.31 T -0.823 T 0.017 T 0.348 4.411 23.4 4.95 2.266 2.984 17.793 4.411327 4.411327 0.59 0.000698 0 NA NA NA 15.8319354 1 1 1 14 91357007 91357007 C T exonic RPS6KA5 NA nonsynonymous SNV RPS6KA5:NM_004755:exon14:c.G1660A:p.D554N exonic ENSG00000100784 NA nonsynonymous SNV ENSG00000100784:ENST00000261991:exon14:c.G1660A:p.D554N,ENSG00000100784:ENST00000536315:exon14:c.G1423A:p.D475N Score=563;Name=lod=258 NA 14q32.11 NA NA NA NA rs55911249 0.0005 0.0005 0.001 0.000998403 0.002 NA 0.0043 NA NA NA NA 0.0028 NA 0.0021 0.0028 0.04 D 0.994 D 0.831 P 0.000 D 1.000 D 1.005 L -0.08 T -0.481 T 0.300 T 0.135 5 29.4 5.45 2.535 7.780 19.284 4.999614 4.999614 0.08 0.001977 0.000681 NA NA NA 15.8272564 1 1 1 11 58170712 58170712 C T exonic OR5B3 NA nonsynonymous SNV OR5B3:NM_001005469:exon1:c.G171A:p.M57I exonic ENSG00000172769 NA nonsynonymous SNV ENSG00000172769:ENST00000309403:exon1:c.G171A:p.M57I Score=468;Name=lod=106 NA 11q12.1 NA NA NA NA rs138976101 0.0027 0.0027 0.003 0.000998403 0.005 NA NA NA NA 0.01 NA NA NA 0.0029 0.01 0 D 0.98 D 0.782 P 0.016 N 0.998 D 3.945 H 2.99 T -0.705 T 0.084 T 0.412 3.179 16.64 4.19 2.338 4.651 15.583 3.17872 3.17872 0 0.005122 0.001817 NA NA NA 15.8203114 1 1 1 10 73055607 73055607 G A exonic UNC5B NA nonsynonymous SNV UNC5B:NM_001244889:exon13:c.G2182A:p.V728M,UNC5B:NM_170744:exon14:c.G2215A:p.V739M exonic ENSG00000107731 NA nonsynonymous SNV ENSG00000107731:ENST00000373192:exon13:c.G2182A:p.V728M,ENSG00000107731:ENST00000335350:exon14:c.G2215A:p.V739M Score=613;Name=lod=412 NA 10q22.1 Score=885;Name=V$ZID_01 NA NA NA rs61749231 0.0037 0.0037 NA 0.00319489 0.006 NA 0.0086 NA 0.0041 0.004 NA 0.01 NA 0.0044 0.01 0.04 D 0.934 P 0.208 B 0.000 D 0.989 D 0.55 N 0.85 T -1.066 T 0.048 T 0.207 2.069 12.87 3.76 2.437 1.640 9.707 2.068509 2.068509 0.05 0.008605 0.001589 NA 0.007 NA 15.8143284 1 1 1 1 216108128 216108128 T C exonic USH2A NA nonsynonymous SNV USH2A:NM_206933:exon38:c.A7130G:p.N2377S exonic ENSG00000042781 NA nonsynonymous SNV ENSG00000042781:ENST00000307340:exon38:c.A7130G:p.N2377S,ENSG00000042781:ENST00000366943:exon38:c.A7130G:p.N2377S Score=374;Name=lod=44 NA 1q41 NA NA NA NA rs111033394 0.0041 0.0041 NA 0.00299521 0.0119 NA 0.0043 NA NA 0.01 NA 0.0028 NA 0.0038 0.01 0.3 T 0.919 P 0.375 B 0.000 D 1.000 D 2.125 M 2.71 T -0.994 T 0.031 T 0.111 3.126 16.45 5.81 2.210 3.793 12.071 3.125586 3.125586 0.09 0.004537 0.00227 NA NA CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041903.1;CLNDSDB=.;CLNDSDBID=. 15.8130964 9 1 1 19 55693469 55693469 C T exonic PTPRH NA nonsynonymous SNV PTPRH:NM_001161440:exon17:c.G2579A:p.R860Q,PTPRH:NM_002842:exon19:c.G3113A:p.R1038Q exonic ENSG00000080031 NA nonsynonymous SNV ENSG00000080031:ENST00000263434:exon17:c.G2579A:p.R860Q,ENSG00000080031:ENST00000376350:exon19:c.G3113A:p.R1038Q Score=500;Name=lod=143 NA 19q13.42 Score=959;Name=V$MYOD_Q6 NA NA NA rs45541434 0.01 0.01 0.004 0.00519169 0.0119 NA 0.013 0.0008 0.0041 0.01 NA 0.02 0.002 0.0075 0.02 0.99 T 0.975 D 0.655 P 0.004 N 0.521 D -0.45 N -1.59 D -0.594 T 0.154 T 0.114 3.685 18.72 3.82 1.196 1.793 8.962 3.684827 3.684827 0.21 0.009186 0.003404 NA 0.007 NA 15.8047474 13 1 1 1 27686399 27686399 G T exonic MAP3K6 NA nonsynonymous SNV MAP3K6:NM_004672:exon17:c.C2269A:p.Q757K exonic ENSG00000142733 NA nonsynonymous SNV ENSG00000142733:ENST00000374040:exon16:c.C2245A:p.Q749K,ENSG00000142733:ENST00000357582:exon17:c.C2269A:p.Q757K,ENSG00000142733:ENST00000493901:exon18:c.C2269A:p.Q757K Score=620;Name=lod=442 NA 1p36.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.03 D 0.906 P 0.542 P . . 0.991 D 0.565 N -0.08 T -0.769 T 0.177 T 0.714 3.813 19.36 5.03 2.610 5.201 12.037 3.812996 3.812996 NA NA NA NA NA NA 15.3333334 3 1 1 6 38810663 38810663 A C exonic DNAH8 NA nonsynonymous SNV DNAH8:NM_001206927:exon35:c.A4829C:p.H1610P exonic ENSG00000124721 NA nonsynonymous SNV ENSG00000124721:ENST00000441566:exon31:c.A4178C:p.H1393P,ENSG00000124721:ENST00000359357:exon33:c.A4178C:p.H1393P,ENSG00000124721:ENST00000327475:exon34:c.A4793C:p.H1598P,ENSG00000124721:ENST00000449981:exon35:c.A4829C:p.H1610P Score=593;Name=lod=343 NA 6p21.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.04 D 0.1 B 0.279 B 0.001 D 0.995 N 3.18 M 0.05 T -0.656 T 0.242 T 0.434 1.998 12.64 5.12 2.047 6.176 9.721 1.998387 1.998387 0.02 NA NA NA NA NA 15.3333334 30 2 2 17 38560731 38560731 C T exonic TOP2A NA nonsynonymous SNV TOP2A:NM_001067:exon18:c.G2059A:p.G687R exonic ENSG00000131747 NA nonsynonymous SNV ENSG00000131747:ENST00000423485:exon18:c.G2059A:p.G687R Score=459;Name=lod=98 NA 17q21.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004198 NA 0.01 D 0.273 B 0.23 B 0.000 D 1.000 D 1.745 L 1.93 T -1.046 T 0.090 T 0.948 4.064 20.9 5.5 2.592 7.760 19.383 4.064383 4.064383 0.03 NA NA NA NA NA 15.3332914 2 1 1 2 160706630 160706630 G A exonic LY75,LY75-CD302 NA nonsynonymous SNV LY75-CD302:NM_001198759:exon23:c.C3011T:p.P1004L,LY75-CD302:NM_001198760:exon23:c.C3011T:p.P1004L,LY75:NM_002349:exon23:c.C3011T:p.P1004L exonic ENSG00000054219,ENSG00000248672 NA nonsynonymous SNV ENSG00000054219:ENST00000263636:exon23:c.C3011T:p.P1004L,ENSG00000248672:ENST00000504764:exon23:c.C3011T:p.P1004L,ENSG00000248672:ENST00000505052:exon23:c.C3011T:p.P1004L,ENSG00000054219:ENST00000553424:exon23:c.C3011T:p.P1004L,ENSG00000054219:ENST00000554112:exon23:c.C3011T:p.P1004L Score=431;Name=lod=75 NA 2q24.2 Score=949;Name=V$CETS1P54_01 NA NA NA rs145262865 0.0005 0.0005 NA 0.000199681 NA 0.001 NA NA NA NA 0.0017 NA NA 0.00002491 0.0017 0.1 T 1.0 D 0.999 D 0.005 U 1.000 D 1.825 L 2.21 T -1.107 T 0.107 T 0.694 3.637 18.5 5.54 2.609 4.305 16.373 3.636931 3.636931 0.01 0.000116 0.000227 ID=COSM1008195;OCCURENCE=1(endometrium) NA NA 15.3331925 12 1 1 18 77659045 77659045 G C exonic KCNG2 NA nonsynonymous SNV KCNG2:NM_012283:exon2:c.G630C:p.E210D exonic ENSG00000178342 NA nonsynonymous SNV ENSG00000178342:ENST00000316249:exon2:c.G630C:p.E210D Score=679;Name=lod=765 NA 18q23 NA NA NA NA rs200870939 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 0.0001 0.34 T 0.793 P 0.459 P 0.120 U 1.000 D 2.045 M -4.42 D 0.434 D 0.834 D 0.169 1.849 12.14 1.31 0.638 1.858 4.322 1.849026 1.849026 0.09 0.000116 0 NA NA NA 15.3330174 1 1 1 3 49147760 49147760 C T exonic USP19 NA nonsynonymous SNV USP19:NM_006677:exon25:c.G3586A:p.V1196I,USP19:NM_001199160:exon26:c.G3889A:p.V1297I,USP19:NM_001199161:exon26:c.G3895A:p.V1299I,USP19:NM_001199162:exon26:c.G3859A:p.V1287I exonic ENSG00000172046 NA nonsynonymous SNV ENSG00000172046:ENST00000398896:exon23:c.G3010A:p.V1004I,ENSG00000172046:ENST00000398888:exon25:c.G3586A:p.V1196I,ENSG00000172046:ENST00000398898:exon25:c.G3706A:p.V1236I,ENSG00000172046:ENST00000398892:exon26:c.G3706A:p.V1236I,ENSG00000172046:ENST00000417901:exon26:c.G3895A:p.V1299I,ENSG00000172046:ENST00000434032:exon26:c.G3889A:p.V1297I,ENSG00000172046:ENST00000453664:exon26:c.G3859A:p.V1287I Score=602;Name=lod=374 NA 3p21.31 NA NA NA NA rs185755099 0.0009 0.0009 NA 0 NA NA NA NA NA NA NA 0.01 NA 0.0003 0.01 0.17 T 0.999 D 0.997 D 0.000 D 1.000 D 1.24 L 1.4 T -0.967 T 0.136 T 0.483 4.869 27.9 5.67 2.666 7.476 19.763 4.86895 4.86895 0.03 0.000236 0 NA NA NA 15.3327974 1 1 1 3 38049774 38049774 C A exonic PLCD1 NA nonsynonymous SNV PLCD1:NM_001130964:exon13:c.G2050T:p.V684L,PLCD1:NM_006225:exon13:c.G1987T:p.V663L exonic ENSG00000187091 NA nonsynonymous SNV ENSG00000187091:ENST00000334661:exon13:c.G1987T:p.V663L,ENSG00000187091:ENST00000463876:exon13:c.G2050T:p.V684L Score=340;Name=lod=32 NA 3p22.2 NA NA NA NA rs78426951 0.0009 0.0009 NA 0.000399361 0.001 NA 0.0014 NA NA 0.0013 NA 0.0028 NA 0.0009 0.0028 0.51 T 0.998 D 0.955 D 0.000 D 1.000 D 1.335 L -0.36 T -0.642 T 0.328 T 0.666 3.975 20.3 4.05 2.477 1.717 12.705 3.974526 3.974526 0.01 0.001395 0.000454 NA NA NA 15.3300384 1 1 1 12 4870233 4870233 A G exonic GALNT8 NA nonsynonymous SNV GALNT8:NM_017417:exon7:c.A1283G:p.N428S exonic ENSG00000130035 NA nonsynonymous SNV ENSG00000130035:ENST00000252318:exon7:c.A1283G:p.N428S Score=505;Name=lod=150 NA 12p13.32 NA NA NA NA rs143807268 0.0009 0.0009 0 0.000798722 0.002 0.001 NA NA 0.001 0.0013 0.0017 NA NA 0.0009 0.0017 0 D 0.943 P 0.543 P 0.044 N 0.882 D 3.235 M 0.2 T -0.194 T 0.296 T 0.274 3.82 19.4 3.27 1.389 8.531 9.672 3.819813 3.819813 0 0.001744 0.001135 NA NA NA 15.3286894 8 1 1 7 38574539 38574539 G A exonic AMPH NA nonsynonymous SNV AMPH:NM_001635:exon2:c.C142T:p.R48W,AMPH:NM_139316:exon2:c.C142T:p.R48W exonic ENSG00000078053 NA nonsynonymous SNV ENSG00000078053:ENST00000325590:exon2:c.C142T:p.R48W,ENSG00000078053:ENST00000356264:exon2:c.C142T:p.R48W,ENSG00000078053:ENST00000428293:exon2:c.C142T:p.R48W Score=608;Name=lod=394 NA 7p14.1 NA NA NA NA rs147234401 0.0009 0.0009 NA 0.000399361 0.001 NA NA 0.0008 NA 0.0013 NA NA 0.002 0.0012 0.0028 0 D 1.0 D 0.997 D 0.000 D 1.000 D 2.135 M -0.02 T -0.224 T 0.386 T 0.774 3.654 18.58 -0.747 -0.037 1.238 15.376 3.653729 3.653729 0 0.002791 0.000227 ID=COSM1450618;OCCURENCE=1(large_intestine) NA NA 15.3283424 4 1 1 7 143701389 143701389 A T exonic OR6B1 NA nonsynonymous SNV OR6B1:NM_001005281:exon1:c.A300T:p.Q100H exonic ENSG00000221813 NA nonsynonymous SNV ENSG00000221813:ENST00000408922:exon1:c.A300T:p.Q100H Score=295;Name=lod=21 NA 7q35 NA NA NA NA rs182442940 0.0023 0.0023 NA 0.00259585 0.004 NA 0.0086 0.0015 0.001 0.0013 NA 0.01 NA 0.0018 0.01 0 D 1.0 D 1.0 D 0.003 U 0.599 D 3.865 H 4.44 T -0.976 T 0.030 T 0.811 3.587 18.27 -3.13 -0.425 -1.271 13.911 3.587495 3.587495 0 0.002107 0.001631 NA 0.007 NA 15.3254264 2 1 1 6 144184227 144184227 A C exonic LTV1 NA nonsynonymous SNV LTV1:NM_032860:exon10:c.A1121C:p.K374T exonic ENSG00000135521 NA nonsynonymous SNV ENSG00000135521:ENST00000367576:exon10:c.A1121C:p.K374T Score=432;Name=lod=76 NA 6q24.2 NA NA NA NA rs41285031 0.0023 0.0023 NA 0.00179712 0.0089 NA NA NA NA 0.01 NA NA NA 0.0042 0.01 0.18 T 0.899 P 0.826 P 0.000 D 1.000 D 2.85 M . . -0.452 T 0.310 T 0.514 3.653 18.57 4.45 0.965 5.846 11.336 3.653331 3.653331 0.01 0.005698 0.000454 NA NA NA 15.3145354 4 1 1 16 23702246 23702246 G C exonic ERN2 NA nonsynonymous SNV ERN2:NM_033266:exon22:c.C2831G:p.A944G exonic ENSG00000134398 NA nonsynonymous SNV ENSG00000134398:ENST00000457008:exon21:c.C2531G:p.A844G,ENSG00000134398:ENST00000256797:exon22:c.C2831G:p.A944G Score=401;Name=lod=57 NA 16p12.2 NA NA NA NA rs56129167 0.0023 0.0023 NA 0.00379393 0.007 NA 0.0072 NA 0.0072 0.004 NA 0.01 NA 0.0061 0.01 0 D 0.955 P 0.871 P 0.000 D 1.000 D 3.165 M 1.46 T -0.652 T 0.163 T 0.268 2.281 13.58 3.25 0.306 6.648 12.983 2.281059 2.281059 0.01 0.008605 0.001138 NA NA NA 15.3116284 4 2 1 1 29527028 29527028 G A exonic MECR NA nonsynonymous SNV MECR:NM_001024732:exon7:c.C602T:p.A201V,MECR:NM_016011:exon7:c.C830T:p.A277V exonic ENSG00000116353 NA nonsynonymous SNV ENSG00000116353:ENST00000463412:exon5:c.C449T:p.A150V,ENSG00000116353:ENST00000263702:exon7:c.C830T:p.A277V,ENSG00000116353:ENST00000373791:exon7:c.C602T:p.A201V Score=531;Name=lod=191 NA 1p35.3 Score=808;Name=V$TCF11MAFG_01 NA NA NA rs148978800 0.0018 0.0018 0.002 0.00179712 0.008 NA NA 0.0008 NA 0.01 NA NA NA 0.005 0.01 0.08 T 0.965 D 0.335 B 0.022 N 0.951 D 2.22 M 3.44 T -1.063 T 0.016 T 0.271 3.225 16.81 4.75 2.696 4.282 10.263 3.224512 3.224512 0.19 0.008721 0.000681 ID=COSM908048;OCCURENCE=1(endometrium) NA NA 15.3116124 4 1 1 9 15874585 15874585 T G exonic CCDC171 NA nonsynonymous SNV CCDC171:NM_173550:exon24:c.T3524G:p.L1175R exonic ENSG00000164989 NA nonsynonymous SNV ENSG00000164989:ENST00000297641:exon24:c.T3524G:p.L1175R,ENSG00000164989:ENST00000380701:exon24:c.T3524G:p.L1175R Score=812;Name=lod=2661 NA 9p22.3 NA NA NA NA rs149814894 0.01 0.01 0.004 0.00678914 0.0109 NA 0.0058 NA 0.0194 0.01 NA 0.01 NA 0.0095 0.01 0.12 T 1.0 D 0.999 D 0.000 D 1.000 D 0.805 L 2.14 T -0.907 T 0.142 T 0.897 3.602 18.34 5.74 2.205 5.172 16.105 3.602189 3.602189 0 0.007093 0.001135 ID=COSM1235977,COSM1235976;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) NA NA 15.3058404 5 2 1 16 341206 341206 C G exonic AXIN1 NA nonsynonymous SNV AXIN1:NM_003502:exon9:c.G2278C:p.E760Q exonic ENSG00000103126 NA nonsynonymous SNV ENSG00000103126:ENST00000262320:exon9:c.G2278C:p.E760Q Score=567;Name=lod=270 NA 16p13.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.39 T 0.501 P 0.086 B 0.000 D 1.000 D 1.39 L 0.19 T -0.948 T 0.131 T 0.092 1.519 11.03 3.57 1.836 3.574 14.066 1.519165 1.519165 0.43 NA NA NA NA NA 14.8333334 2 1 1 20 17600316 17600316 T C exonic RRBP1 NA nonsynonymous SNV RRBP1:NM_004587:exon19:c.A2338G:p.S780G,RRBP1:NM_001042576:exon20:c.A2338G:p.S780G exonic ENSG00000125844 NA nonsynonymous SNV ENSG00000125844:ENST00000246043:exon17:c.A3637G:p.S1213G,ENSG00000125844:ENST00000455029:exon18:c.A1660G:p.S554G,ENSG00000125844:ENST00000360807:exon19:c.A2338G:p.S780G,ENSG00000125844:ENST00000377813:exon19:c.A3637G:p.S1213G,ENSG00000125844:ENST00000377807:exon20:c.A2338G:p.S780G NA NA 20p12.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.11 T 0.989 D 0.889 P 0.000 D 0.999 N 2.19 M 2.04 T -0.946 T 0.152 T 0.219 2.496 14.31 4.75 1.048 2.772 10.79 2.495797 2.495797 0.01 NA NA NA NA NA 14.8333334 2 1 1 11 119243493 119243493 C T exonic USP2 NA nonsynonymous SNV USP2:NM_004205:exon2:c.G698A:p.R233H exonic ENSG00000036672 NA nonsynonymous SNV ENSG00000036672:ENST00000260187:exon2:c.G698A:p.R233H Score=309;Name=lod=24 NA 11q23.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002701 NA 0.07 T 0.998 D 0.743 P 0.049 N 1.000 D 0.345 N 2.14 T -1.102 T 0.057 T 0.447 2.721 15.06 5.37 2.501 1.679 16.265 2.720804 2.720804 0 NA NA NA NA NA 14.8333064 2 1 1 4 110618781 110618781 C T exonic CASP6 NA nonsynonymous SNV CASP6:NM_001226:exon3:c.G227A:p.R76H exonic ENSG00000138794 NA nonsynonymous SNV ENSG00000138794:ENST00000265164:exon3:c.G227A:p.R76H,ENSG00000138794:ENST00000503684:exon3:c.G173A:p.R58H,ENSG00000138794:ENST00000505486:exon3:c.G227A:p.R76H Score=358;Name=lod=38 NA 4q25 NA NA NA NA rs377499378 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003395 0.0001 0.01 D 0.72 P 0.234 B 0.000 D 1.000 D 1.8 L 1.89 T -1.063 T 0.068 T 0.547 2.587 14.61 4.3 1.561 1.325 8.445 2.587369 2.587369 0.06 0.000116 0 NA NA NA 14.8331835 1 1 1 14 64610629 64610629 G A exonic SYNE2 NA nonsynonymous SNV SYNE2:NM_015180:exon83:c.G15446A:p.R5149H,SYNE2:NM_182914:exon83:c.G15446A:p.R5149H exonic ENSG00000054654 NA nonsynonymous SNV ENSG00000054654:ENST00000555612:exon3:c.G332A:p.R111H,ENSG00000054654:ENST00000394768:exon31:c.G4601A:p.R1534H,ENSG00000054654:ENST00000555002:exon34:c.G5348A:p.R1783H,ENSG00000054654:ENST00000554584:exon81:c.G15197A:p.R5066H,ENSG00000054654:ENST00000344113:exon83:c.G15446A:p.R5149H,ENSG00000054654:ENST00000358025:exon83:c.G15446A:p.R5149H,ENSG00000054654:ENST00000357395:exon84:c.G4601A:p.R1534H Score=561;Name=lod=253 NA 14q23.2 NA NA NA NA rs142206385 0.0009 0.0009 NA 0.000399361 NA 0.001 NA 0.0008 NA NA 0.0017 NA 0.002 0.0002 0.002 0.03 D 0.763 P 0.143 B 0.013 N 1.000 D 2.395 M 1.31 T -0.906 T 0.120 T 0.383 2.792 15.3 4.44 1.240 3.926 7.484 2.791982 2.791982 0 0.000349 0 NA NA NA 14.8327844 20 3 2 1 235324212 235324212 G A exonic RBM34 NA nonsynonymous SNV RBM34:NM_001161533:exon2:c.C224T:p.P75L,RBM34:NM_015014:exon2:c.C224T:p.P75L exonic ENSG00000188739 NA nonsynonymous SNV ENSG00000188739:ENST00000366606:exon2:c.C209T:p.P70L,ENSG00000188739:ENST00000408888:exon2:c.C224T:p.P75L,ENSG00000188739:ENST00000429912:exon2:c.C224T:p.P75L,ENSG00000188739:ENST00000447801:exon2:c.C218T:p.P73L NA NA 1q42.3 NA Name=Pol2,Sin3Ak-20,CHD2_(N-1250) Name=115 NA rs184349413 0.0009 0.0009 NA 0.00179712 0.001 NA 0.0086 0.0015 NA NA NA 0.01 NA 0.0004 0.01 0.2 T 0.969 D 0.691 P 0.001 N 0.687 N 2.215 M 2.35 T -1.091 T 0.057 T 0.267 3.959 20.3 3.17 1.287 2.429 8.907 3.959016 3.959016 0.01 0.000364 0.000785 NA NA NA 14.8315694 2 2 2 13 39262826 39262826 C G exonic FREM2 NA nonsynonymous SNV FREM2:NM_207361:exon1:c.C1345G:p.L449V exonic ENSG00000150893 NA nonsynonymous SNV ENSG00000150893:ENST00000280481:exon1:c.C1345G:p.L449V Score=496;Name=lod=138 NA 13q13.3 NA NA NA NA rs190063725 0.0005 0.0005 NA 0.000399361 0.002 NA NA NA NA 0.0013 NA NA NA 0.0001 0.0013 0.25 T 0.988 D 0.751 P 0.000 D 1.000 D 0.93 L 1.71 T -1.141 T 0.087 T 0.77 2.633 14.77 5.6 2.648 2.597 19.623 2.633404 2.633404 0.13 NA NA NA NA NA 14.8312334 12 1 1 7 23383339 23383339 T C exonic IGF2BP3 NA nonsynonymous SNV IGF2BP3:NM_006547:exon9:c.A1075G:p.N359D exonic ENSG00000136231 NA nonsynonymous SNV ENSG00000136231:ENST00000258729:exon9:c.A1075G:p.N359D Score=630;Name=lod=484 NA 7p15.3 NA NA NA NA rs150697725 0.0018 0.0018 NA 0.00139776 0.003 0.001 NA NA 0.0031 0.004 0.0017 NA NA 0.0016 0.004 0.4 T 0.57 P 0.196 B 0.000 D 1.000 D 2.085 M 2.47 T -1.107 T 0.051 T 0.36 3.433 17.61 5.64 2.145 6.155 15.862 3.432779 3.432779 0.2 0.001977 0.000227 NA NA NA 14.8267564 3 1 1 7 76903907 76903907 C T exonic CCDC146 NA nonsynonymous SNV CCDC146:NM_020879:exon11:c.C1378T:p.R460C exonic ENSG00000135205 NA nonsynonymous SNV ENSG00000135205:ENST00000431197:exon10:c.C520T:p.R174C,ENSG00000135205:ENST00000285871:exon11:c.C1378T:p.R460C NA NA 7q11.23 Score=824;Name=V$BACH1_01 NA NA NA rs148164233 0.0014 0.0014 0.002 0.00419329 0.003 0.001 NA NA 0.0174 0.004 NA NA NA 0.0037 0.004 0.03 D 0.99 D 0.727 P 0.001 D 0.997 N 1.39 L 1.04 T -0.903 T 0.169 T 0.553 1.23 9.989 5.71 2.698 4.057 19.430 1.230341 NA 0 0.002558 0.000681 NA NA NA 14.8240754 4 1 1 6 161491684 161491684 G T exonic MAP3K4 NA nonsynonymous SNV MAP3K4:NM_005922:exon4:c.G1752T:p.Q584H,MAP3K4:NM_006724:exon4:c.G1752T:p.Q584H exonic ENSG00000085511 NA nonsynonymous SNV ENSG00000085511:ENST00000542952:exon2:c.G197T:p.S66I,ENSG00000085511:ENST00000348824:exon4:c.G1752T:p.Q584H,ENSG00000085511:ENST00000366919:exon4:c.G1752T:p.Q584H,ENSG00000085511:ENST00000366920:exon4:c.G1752T:p.Q584H,ENSG00000085511:ENST00000392142:exon4:c.G1752T:p.Q584H,ENSG00000085511:ENST00000544041:exon4:c.G1752T:p.Q584H,ENSG00000085511:ENST00000490904:exon5:c.G1850T:p.S617I NA NA 6q26 NA NA Name=2 NA rs34018542 0.0005 0.0005 NA 0.000798722 0.001 NA 0.0029 0.0008 NA NA NA 0.0028 NA 0.0029 0.0056 0.04 D 0.974 D 0.646 P 0.000 D 0.749 N 1.59 L 2.22 T -1.105 T 0.030 T 0.548 1.105 9.51 4.69 1.363 3.268 9.976 1.105499 NA 0.01 0.005581 0.000908 NA NA NA 14.8238524 1 1 1 9 79323853 79323853 C T exonic PRUNE2 NA nonsynonymous SNV PRUNE2:NM_015225:exon8:c.G3337A:p.D1113N exonic ENSG00000106772 NA nonsynonymous SNV ENSG00000106772:ENST00000376718:exon8:c.G3337A:p.D1113N,ENSG00000106772:ENST00000428286:exon8:c.G2260A:p.D754N NA NA 9q21.2 NA NA NA NA rs200875180 0.0009 0.0009 NA 0.000998403 0.005 NA NA NA NA 0.0026 NA NA NA 0.0038 0.0038 0 D 1.0 D 0.829 P 0.000 D 1.000 D 0.975 L 0.31 T -0.885 T 0.201 T 0.202 2.621 14.72 5.94 2.826 4.165 14.954 2.620639 2.620639 0 0.003769 0.000319 NA NA NA 14.8207644 16 1 1 19 35790493 35790493 C T exonic MAG NA nonsynonymous SNV MAG:NM_001199216:exon5:c.C377T:p.A126V,MAG:NM_002361:exon5:c.C452T:p.A151V,MAG:NM_080600:exon5:c.C452T:p.A151V exonic ENSG00000105695 NA nonsynonymous SNV ENSG00000105695:ENST00000600291:exon4:c.C377T:p.A126V,ENSG00000105695:ENST00000361922:exon5:c.C452T:p.A151V,ENSG00000105695:ENST00000392213:exon5:c.C452T:p.A151V,ENSG00000105695:ENST00000537831:exon5:c.C377T:p.A126V,ENSG00000105695:ENST00000595791:exon5:c.C452T:p.A151V Score=501;Name=lod=145 NA 19q13.12 NA NA NA NA rs144553163 0.0027 0.0027 NA 0.00239617 0.005 NA 0.0014 0.0008 0.0051 0.01 NA NA 0.002 0.0044 0.01 1 T 0.98 D 0.79 P 0.000 D 0.919 D 1.245 L -1.0 T -0.510 T 0.274 T 0.433 3.859 19.6 4.57 2.361 1.742 14.866 3.858571 3.858571 0.03 0.004302 0.002497 NA NA NA 14.8196314 4 2 2 12 49498284 49498284 T G exonic LMBR1L NA nonsynonymous SNV LMBR1L:NM_018113:exon5:c.A382C:p.M128L exonic ENSG00000139636 NA nonsynonymous SNV ENSG00000139636:ENST00000550137:exon3:c.A208C:p.M70L,ENSG00000139636:ENST00000395141:exon4:c.A367C:p.M123L,ENSG00000139636:ENST00000267102:exon5:c.A382C:p.M128L,ENSG00000139636:ENST00000547382:exon5:c.A382C:p.M128L,ENSG00000139636:ENST00000551854:exon5:c.A397C:p.M133L Score=622;Name=lod=449 NA 12q13.12 NA NA NA NA rs35343771 0.0018 0.0018 0 0.00159744 0.005 0.001 0.0029 NA NA 0.004 0.0017 NA NA 0.0044 0.0048 1 T 0.91 P 0.909 D 0.000 D 1.000 D 0.8 N 2.07 T -1.118 T 0.068 T 0.789 3.026 16.1 6.07 2.326 8.005 15.611 3.025943 3.025943 0.55 0.004767 0.001589 NA NA NA 14.8191664 3 1 1 6 35285719 35285719 A C exonic DEF6 NA nonsynonymous SNV DEF6:NM_022047:exon6:c.A859C:p.N287H exonic ENSG00000023892 NA nonsynonymous SNV ENSG00000023892:ENST00000542066:exon5:c.A94C:p.N32H,ENSG00000023892:ENST00000316637:exon6:c.A859C:p.N287H Score=371;Name=lod=43 NA 6p21.31 NA Name=CTCF,HA-E2F1,c-Myc Name=127 NA rs61734579 0.01 0.01 0.004 0.00479233 0.0189 NA 0.0072 NA NA 0.02 NA 0.01 NA 0.0088 0.02 0.06 T 0.985 D 0.67 P 0.001 D 1.000 N 0.64 N 2.64 T -1.102 T 0.033 T 0.078 4.619 25.3 2.83 0.869 1.349 8.701 4.618935 4.618935 0.05 0.00907 0.001816 NA NA NA 14.7965634 2 1 1 6 42977092 42977092 T C exonic PPP2R5D NA synonymous SNV PPP2R5D:NM_180977:exon10:c.T966C:p.N322N,PPP2R5D:NM_001270476:exon12:c.T831C:p.N277N,PPP2R5D:NM_006245:exon12:c.T1284C:p.N428N,PPP2R5D:NM_180976:exon12:c.T1188C:p.N396N exonic ENSG00000112640 NA synonymous SNV ENSG00000112640:ENST00000461010:exon10:c.T966C:p.N322N,ENSG00000112640:ENST00000394110:exon12:c.T1188C:p.N396N,ENSG00000112640:ENST00000472118:exon12:c.T1260C:p.N420N,ENSG00000112640:ENST00000485511:exon12:c.T1284C:p.N428N Score=606;Name=lod=386 NA 6p21.1 Score=909;Name=V$SOX9_B1 Name=CTCF,CTCF_(C-20),ZNF263,CTCFL_(SC-98982),CTCF_(SC-5916),SMC3_(ab9263),Rad21 Name=87 NA rs114970216 0.0023 0.0023 0 0.00119808 0.005 NA 0.0014 NA NA 0.01 NA 0.0028 NA 0.0048 0.011 . . . . . . . . 1.000 D . . . . . . . . . 0.714 7.805 -6.84 -1.363 -1.143 18.214 0.714379 NA NA 0.007209 0.002724 NA 0.014 NA 14.6496576 1 1 1 17 49072486 49072486 C T exonic SPAG9 NA nonsynonymous SNV SPAG9:NM_001251971:exon14:c.G1687A:p.D563N,SPAG9:NM_003971:exon17:c.G2116A:p.D706N,SPAG9:NM_001130527:exon18:c.G2128A:p.D710N,SPAG9:NM_001130528:exon18:c.G2158A:p.D720N exonic ENSG00000008294 NA nonsynonymous SNV ENSG00000008294:ENST00000510283:exon14:c.G1687A:p.D563N,ENSG00000008294:ENST00000357122:exon17:c.G2116A:p.D706N,ENSG00000008294:ENST00000262013:exon18:c.G2158A:p.D720N,ENSG00000008294:ENST00000505279:exon18:c.G2128A:p.D710N Score=325;Name=lod=28 NA 17q21.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.03 D 0.449 B 0.265 B 0.001 N 1.000 D 1.75 L 1.88 T -1.067 T 0.087 T 0.055 4.233 22 5.59 2.621 7.135 19.596 4.2328 4.2328 0.01 NA NA NA NA NA 14.3333334 6 1 1 4 126373317 126373317 C T exonic FAT4 NA nonsynonymous SNV FAT4:NM_024582:exon9:c.C11146T:p.R3716C exonic ENSG00000196159 NA nonsynonymous SNV ENSG00000196159:ENST00000335110:exon9:c.C6040T:p.R2014C,ENSG00000196159:ENST00000394329:exon9:c.C11146T:p.R3716C Score=343;Name=lod=33 NA 4q28.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001647 NA 0.01 D 0.219 B 0.034 B 0.003 U 1.000 D 1.845 L 0.53 T -0.862 T 0.156 T 0.941 2.938 15.79 4.92 1.445 4.651 14.756 2.937846 2.937846 0 NA NA ID=COSM232313,COSM232312;OCCURENCE=2(skin) NA NA 14.3333169 4 1 1 8 22267473 22267473 T G exonic SLC39A14 NA nonsynonymous SNV SLC39A14:NM_015359:exon4:c.T472G:p.F158V exonic ENSG00000104635 NA nonsynonymous SNV ENSG00000104635:ENST00000359741:exon4:c.T472G:p.F158V Score=568;Name=lod=272 NA 8p21.3 Score=836;Name=V$RREB1_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001648 NA 0.28 T 0.007 B 0.039 B . . 1.000 D . . 0.9 T -1.077 T 0.073 T 0.165 2.572 14.56 4.08 0.995 3.230 6.333 2.571512 2.571512 0.3 NA NA NA NA NA 14.3333169 3 2 1 9 95263039 95263039 T C exonic ECM2 NA nonsynonymous SNV ECM2:NM_001197295:exon9:c.A1835G:p.H612R,ECM2:NM_001197296:exon9:c.A1835G:p.H612R,ECM2:NM_001393:exon9:c.A1901G:p.H634R exonic ENSG00000106823 NA nonsynonymous SNV ENSG00000106823:ENST00000344604:exon9:c.A1901G:p.H634R,ENSG00000106823:ENST00000444490:exon9:c.A1835G:p.H612R Score=568;Name=lod=272 NA 9q22.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001655 NA 0.46 T 0.158 B 0.065 B 0.000 D 1.000 D -0.93 N 0.72 T -1.061 T 0.043 T 0.195 1.868 12.2 3.96 2.058 3.539 9.821 1.867649 1.867649 0.51 NA NA NA NA NA 14.3333168 1 1 1 7 26224829 26224829 C G exonic NFE2L3 NA nonsynonymous SNV NFE2L3:NM_004289:exon4:c.C1511G:p.P504R exonic ENSG00000050344 NA nonsynonymous SNV ENSG00000050344:ENST00000056233:exon4:c.C1511G:p.P504R NA NA 7p15.2 NA Name=Pol2,Pol2-4H8,RXRA Name=52 NA rs143155770 0.0005 0.0005 NA NA NA NA NA NA NA 0.0013 NA NA NA 0.00004942 0.0013 0.02 D 0.083 B 0.024 B 0.095 N 1.000 N 2.165 M 1.39 T -0.952 T 0.123 T 0.244 2.739 15.12 5.13 2.564 1.796 18.960 2.73945 2.73945 0.01 0.000233 0 NA NA NA 14.333051 1 1 1 14 105353232 105353232 A G exonic CEP170B NA nonsynonymous SNV CEP170B:NM_015005:exon11:c.A2446G:p.I816V,CEP170B:NM_001112726:exon12:c.A2656G:p.I886V exonic ENSG00000099814 NA nonsynonymous SNV ENSG00000099814:ENST00000418279:exon11:c.A2446G:p.I816V,ENSG00000099814:ENST00000556508:exon11:c.A2446G:p.I816V,ENSG00000099814:ENST00000414716:exon12:c.A2656G:p.I886V,ENSG00000099814:ENST00000453495:exon12:c.A2659G:p.I887V Score=278;Name=lod=18 NA 14q32.33 NA NA NA NA rs373327078 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004316 0.0002 0.02 D 0.985 D 0.952 D 0.000 N 1.000 D 1.655 L 0.4 T -0.652 T 0.262 T 0.177 1.781 11.92 2.15 0.592 3.784 7.858 1.781197 1.781197 0 0.000243 0 NA NA NA 14.3330472 1 1 1 1 159410402 159410402 C T exonic OR10J1 NA nonsynonymous SNV OR10J1:NM_012351:exon1:c.C854T:p.S285L exonic ENSG00000196184 NA nonsynonymous SNV ENSG00000196184:ENST00000423932:exon1:c.C854T:p.S285L NA NA 1q23.2 NA NA NA NA rs144480627 NA NA NA 0.000399361 NA NA NA 0.0015 NA NA NA NA NA 0.0003 0.0018 0 D 1.0 D 0.99 D 0.004 N 1.000 N 2.925 M 8.39 T -1.040 T 0.001 T 0.325 3.114 16.41 3.51 1.189 3.629 10.227 3.114426 3.114426 0 0 0.001816 NA NA NA 14.3330334 2 1 1 17 44248783 44248783 G T exonic KANSL1 NA nonsynonymous SNV KANSL1:NM_001193466:exon2:c.C727A:p.Q243K,KANSL1:NM_015443:exon2:c.C727A:p.Q243K,KANSL1:NM_001193465:exon3:c.C727A:p.Q243K exonic ENSG00000120071 NA nonsynonymous SNV ENSG00000120071:ENST00000432791:exon1:c.C727A:p.Q243K,ENSG00000120071:ENST00000575318:exon1:c.C727A:p.Q243K,ENSG00000120071:ENST00000262419:exon2:c.C727A:p.Q243K,ENSG00000120071:ENST00000572904:exon2:c.C727A:p.Q243K,ENSG00000120071:ENST00000574590:exon2:c.C727A:p.Q243K Score=472;Name=lod=110 NA 17q21.31 Score=767;Name=V$STAT3_01 NA NA NA rs142096969 NA NA NA 0.000798722 0.001 NA 0.0043 NA NA NA NA NA NA 0.0018 0.0024 0.5 T 0.103 B 0.058 B 0.000 D 1.000 D 0.345 N 2.72 T -0.977 T 0.022 T 0.492 1.556 11.16 6.04 2.873 2.286 13.678 1.556207 1.556207 0.47 0.002442 0.000227 NA NA NA 14.3280914 4 1 1 8 110131553 110131553 G A exonic TRHR NA nonsynonymous SNV TRHR:NM_003301:exon2:c.G1066A:p.V356I exonic ENSG00000174417 NA nonsynonymous SNV ENSG00000174417:ENST00000311762:exon2:c.G1066A:p.V356I,ENSG00000174417:ENST00000518632:exon3:c.G1066A:p.V356I Score=426;Name=lod=72 NA 8q23.1 Score=912;Name=V$TCF11_01 NA NA NA rs147019235 0.0014 0.0014 0 0.000798722 0.003 NA NA 0.0008 NA 0.004 NA NA NA 0.0021 0.004 0.28 T 0.448 B 0.091 B 0.000 N 1.000 D 2.22 M -0.23 T -0.689 T 0.247 T 0.064 3.02 16.07 4.93 1.471 4.569 14.268 3.02009 3.02009 0.03 0.001861 0.002497 NA NA NA 14.3263724 1 1 1 14 96730313 96730313 G A exonic BDKRB1 NA stopgain BDKRB1:NM_000710:exon3:c.G294A:p.W98X exonic ENSG00000100739 NA stopgain ENSG00000100739:ENST00000216629:exon3:c.G294A:p.W98X,ENSG00000100739:ENST00000553356:exon3:c.G294A:p.W98X NA NA 14q32.2 Score=837;Name=V$GRE_C Name=HA-E2F1,c-Myc Name=4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1 T . . . . 0.784 U 1.000 A . . . . . . . . . 4.949 28.8 3.49 0.616 -0.154 6.591 4.948566 4.948566 0.57 NA NA NA NA NA 14 2 1 1 1 145606274 145606274 C T splicing POLR3C NM_006468:exon6:c.678+1G>A NA NA splicing ENSG00000186141 ENST00000334163:exon6:c.678+1G>A,ENST00000369294:exon6:c.678+1G>A NA NA Score=355;Name=lod=37 NA 1q21.1 NA Name=GATA-1 Name=3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00005772 NA . . . . . . . . 1.000 D . . . . . . . . . 3.79 19.24 4.96 1.485 4.254 10.815 3.79044 3.79044 NA NA NA NA NA NA 13.9999423 2 1 1 19 55677895 55677895 A C exonic DNAAF3 NA nonsynonymous SNV DNAAF3:NM_001256714:exon1:c.T122G:p.I41R,DNAAF3:NM_178837:exon1:c.T122G:p.I41R exonic ENSG00000167646 NA nonsynonymous SNV ENSG00000167646:ENST00000391720:exon1:c.T122G:p.I41R,ENSG00000167646:ENST00000527223:exon1:c.T122G:p.I41R Score=336;Name=lod=31 NA 19q13.42 NA Name=Pol2,STAT3,NF-YB,E2F6_(H-50),NF-YA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008294 NA 0.04 D 0.729 P 0.354 B 0.890 N 1.000 D 0.69 N 2.05 T -1.092 T 0.040 T 0.189 1.47 10.86 2.91 0.864 0.427 5.976 1.469847 1.469847 0 NA NA NA NA NA 13.8333251 3 1 1 16 2150254 2150254 G A exonic PKD1 NA nonsynonymous SNV PKD1:NM_000296:exon28:c.C9625T:p.R3209C,PKD1:NM_001009944:exon28:c.C9625T:p.R3209C exonic ENSG00000008710 NA nonsynonymous SNV ENSG00000008710:ENST00000262304:exon28:c.C9625T:p.R3209C,ENSG00000008710:ENST00000423118:exon28:c.C9625T:p.R3209C Score=544;Name=lod=217 NA 16p13.3 NA NA NA NA rs147967021 0.0005 0.0005 0.001 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA 0.00009404 0.0028 0 D 0.891 P 0.283 B 0.002 N 0.998 D 1.265 L -0.24 T -0.685 T 0.188 T 0.589 2.133 13.09 4.69 2.424 2.193 10.831 2.133364 2.133364 0 NA NA NA NA NA 13.8332394 10 1 1 6 109954427 109954427 C T exonic AK9 NA nonsynonymous SNV AK9:NM_001145128:exon11:c.G1033A:p.D345N,AK9:NM_145025:exon11:c.G1033A:p.D345N exonic ENSG00000155085 NA nonsynonymous SNV ENSG00000155085:ENST00000285397:exon11:c.G1033A:p.D345N,ENSG00000155085:ENST00000368948:exon11:c.G1033A:p.D345N,ENSG00000155085:ENST00000424296:exon11:c.G1033A:p.D345N Score=414;Name=lod=64 NA 6q21 NA NA NA NA rs200088189 NA NA NA 0.000399361 NA NA NA NA 0.002 NA NA NA NA 0.0001 NA . . 0.536 P 0.246 B 0.000 D 1.000 D 1.15 L -0.04 T -1.005 T 0.099 T 0.044 2.271 13.55 4.8 1.389 2.106 12.515 2.271427 2.271427 0.02 NA NA NA NA NA 13.8332334 8 2 1 15 70949424 70949424 T C exonic UACA NA nonsynonymous SNV UACA:NM_001008224:exon19:c.A4183G:p.I1395V,UACA:NM_018003:exon19:c.A4222G:p.I1408V exonic ENSG00000137831 NA nonsynonymous SNV ENSG00000137831:ENST00000539319:exon16:c.A3895G:p.I1299V,ENSG00000137831:ENST00000322954:exon19:c.A4222G:p.I1408V,ENSG00000137831:ENST00000379983:exon19:c.A4183G:p.I1395V,ENSG00000137831:ENST00000560441:exon19:c.A4177G:p.I1393V Score=595;Name=lod=350 NA 15q23 NA NA NA NA rs143220817 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00008257 0.0002 0.04 D 0.783 P 0.205 B 0.043 N 1.000 D 1.61 L 1.58 T -0.963 T 0.103 T 0.695 3.457 17.71 5.5 2.216 5.765 15.914 3.456784 3.456784 0 0.000116 0.000227 NA NA NA 13.8331348 1 1 1 14 93649713 93649713 T C exonic MOAP1 NA nonsynonymous SNV MOAP1:NM_022151:exon3:c.A875G:p.Q292R exonic ENSG00000165943 NA nonsynonymous SNV ENSG00000165943:ENST00000556883:exon2:c.A875G:p.Q292R,ENSG00000165943:ENST00000298894:exon3:c.A875G:p.Q292R Score=329;Name=lod=29 NA 14q32.12 Score=926;Name=V$AP1_C NA Name=4 NA rs74075220 0.01 0.01 0.006 0.00758786 0.001 NA 0.0043 0.0257 NA NA NA 0.01 0.03 0.0026 0.03 0.2 T 0.784 P 0.391 B . . 0.964 N 1.445 L 2.88 T -1.065 T 0.011 T 0.146 1.711 11.68 3.45 1.816 2.514 8.672 1.710811 1.710811 0.15 0.001163 0.015433 NA 0.022 NA 13.8285704 1 1 1 15 78295765 78295765 T C exonic TBC1D2B NA nonsynonymous SNV TBC1D2B:NM_015079:exon11:c.A2456G:p.Q819R,TBC1D2B:NM_144572:exon11:c.A2456G:p.Q819R exonic ENSG00000167202 NA nonsynonymous SNV ENSG00000167202:ENST00000300584:exon11:c.A2456G:p.Q819R,ENSG00000167202:ENST00000409931:exon11:c.A2456G:p.Q819R Score=461;Name=lod=100 NA 15q24.3 NA NA NA NA rs138988358 0.0023 0.0023 NA 0.00359425 0.005 NA 0.0029 0.0083 NA 0.0026 NA 0.01 0.002 0.0018 0.01 0.11 T 0.642 P 0.412 B 0.000 D 1.000 D 1.005 L 2.0 T -0.892 T 0.147 T 0.579 2.462 14.19 5.29 1.988 6.116 14.405 2.462446 2.462446 0.01 0.001514 0.004326 NA NA NA 13.8250194 1 1 1 10 3141542 3141542 G A exonic PFKP NA nonsynonymous SNV PFKP:NM_002627:exon3:c.G262A:p.V88M,PFKP:NM_001242339:exon4:c.G158A:p.S53N exonic ENSG00000067057 NA nonsynonymous SNV ENSG00000067057:ENST00000381125:exon3:c.G262A:p.V88M,ENSG00000067057:ENST00000407806:exon3:c.G148A:p.V50M,ENSG00000067057:ENST00000421751:exon3:c.G148A:p.V50M,ENSG00000067057:ENST00000381075:exon4:c.G158A:p.S53N Score=476;Name=lod=115 NA 10p15.2 NA Name=STAT3,CEBPB Name=93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.07 T 0.063 B 0.069 B 0.010 N 1.000 D -0.255 N -1.35 T -0.879 T 0.222 T 0.279 3.061 16.22 0.519 0.060 2.311 10.329 3.061138 3.061138 0.42 NA NA NA NA NA 13.3333334 18 1 1 12 57863479 57863479 C G exonic GLI1 NA nonsynonymous SNV GLI1:NM_001160045:exon9:c.C1190G:p.T397S,GLI1:NM_001167609:exon10:c.C1451G:p.T484S,GLI1:NM_005269:exon11:c.C1574G:p.T525S exonic ENSG00000111087 NA nonsynonymous SNV ENSG00000111087:ENST00000528467:exon9:c.C1451G:p.T484S,ENSG00000111087:ENST00000543426:exon9:c.C1190G:p.T397S,ENSG00000111087:ENST00000546141:exon10:c.C1451G:p.T484S,ENSG00000111087:ENST00000228682:exon11:c.C1574G:p.T525S Score=461;Name=lod=100 NA 12q13.3 Score=688;Name=V$BRACH_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1 T 0.005 B 0.031 B 0.039 N 0.995 N -0.235 N 2.79 T -0.942 T 0.013 T 0.278 1.048 9.281 3.73 1.296 1.427 6.867 1.048264 NA 0.23 NA NA NA NA NA 13.3333334 1 1 1 13 75900394 75900394 C T exonic TBC1D4 NA nonsynonymous SNV TBC1D4:NM_014832:exon10:c.G1972A:p.D658N exonic ENSG00000136111 NA nonsynonymous SNV ENSG00000136111:ENST00000413735:exon5:c.G508A:p.D170N,ENSG00000136111:ENST00000377625:exon10:c.G1972A:p.D658N,ENSG00000136111:ENST00000377636:exon10:c.G1972A:p.D658N,ENSG00000136111:ENST00000431480:exon10:c.G1972A:p.D658N Score=300;Name=lod=22 NA 13q22.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.55 T 0.015 B 0.009 B 0.089 N 1.000 D 1.175 L 0.91 T -1.077 T 0.079 T 0.033 2.431 14.09 4.64 1.446 2.833 11.345 2.431135 2.431135 0.4 NA NA NA NA NA 13.3333334 5 2 1 17 77078115 77078115 C A exonic ENGASE NA nonsynonymous SNV ENGASE:NM_001042573:exon7:c.C1008A:p.N336K exonic ENSG00000167280 NA nonsynonymous SNV ENSG00000167280:ENST00000539857:exon6:c.C450A:p.N150K,ENSG00000167280:ENST00000579016:exon7:c.C1008A:p.N336K NA NA 17q25.3 Score=851;Name=V$ARNT_01 Name=Egr-1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA . . 0.068 B 0.038 B 0.046 N 0.999 N 1.155 L . . -1.057 T 0.046 T 0.187 -0.085 3.584 -7.57 -1.356 -3.209 1.142 -0.085074 NA 0.23 NA NA NA NA NA 13.3333334 4 2 1 6 32036743 32036743 C T exonic TNXB NA nonsynonymous SNV TNXB:NM_019105:exon16:c.G5758A:p.G1920R exonic ENSG00000168477 NA nonsynonymous SNV ENSG00000168477:ENST00000375244:exon16:c.G5758A:p.G1920R,ENSG00000168477:ENST00000375247:exon16:c.G5758A:p.G1920R NA NA 6p21.33 Score=793;Name=V$CDPCR3_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008655 NA 0.14 T 0.926 P 0.638 P 0.007 N 0.999 N 1.65 L 3.64 T -0.979 T 0.010 T 0.261 2.557 14.51 4.07 1.226 1.769 8.106 2.557304 2.557304 0 NA NA NA NA NA 13.3333247 7 1 1 12 129293353 129293353 A G exonic SLC15A4 NA nonsynonymous SNV SLC15A4:NM_145648:exon5:c.T1238C:p.M413T exonic ENSG00000139370 NA nonsynonymous SNV ENSG00000139370:ENST00000544112:exon2:c.T227C:p.M76T,ENSG00000139370:ENST00000266771:exon5:c.T1238C:p.M413T,ENSG00000139370:ENST00000376740:exon5:c.T338C:p.M113T Score=498;Name=lod=141 NA 12q24.32 Score=796;Name=V$PAX2_01 NA NA NA rs189625027 0.0005 0.0005 NA 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA 0.0000165 0.0028 0.31 T 0.001 B 0.004 B 0.000 N 1.000 D 1.35 L 3.85 T -1.020 T 0.124 T 0.629 2.907 15.69 4.32 0.983 6.555 11.840 2.906903 2.906903 0.27 NA NA NA NA NA 13.3333169 1 1 1 17 6483131 6483131 T C exonic KIAA0753 NA nonsynonymous SNV KIAA0753:NM_014804:exon19:c.A2840G:p.Q947R exonic ENSG00000198920 NA nonsynonymous SNV ENSG00000198920:ENST00000589033:exon12:c.A1208G:p.Q403R,ENSG00000198920:ENST00000542606:exon17:c.A1943G:p.Q648R,ENSG00000198920:ENST00000572370:exon18:c.A1943G:p.Q648R,ENSG00000198920:ENST00000361413:exon19:c.A2840G:p.Q947R Score=313;Name=lod=25 NA 17p13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001657 NA 0.31 T 0.008 B 0.009 B 0.001 N 0.592 D 1.5 L 0.97 T -0.983 T 0.082 T 0.271 3.359 17.32 3.22 1.008 2.671 7.931 3.35874 3.35874 0.15 NA NA NA NA NA 13.3333168 10 1 1 20 51870120 51870120 A T exonic TSHZ2 NA nonsynonymous SNV TSHZ2:NM_001193421:exon2:c.A114T:p.Q38H,TSHZ2:NM_173485:exon2:c.A123T:p.Q41H exonic ENSG00000182463 NA nonsynonymous SNV ENSG00000182463:ENST00000329613:exon2:c.A114T:p.Q38H,ENSG00000182463:ENST00000371497:exon2:c.A123T:p.Q41H,ENSG00000182463:ENST00000603338:exon2:c.A114T:p.Q38H NA NA 20q13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001662 NA 0.04 D 0.001 B 0.001 B 0.000 D 0.998 N 1.61 L 2.49 T -1.088 T 0.026 T 0.202 0.315 5.706 -6.08 -1.856 -1.194 11.778 0.314831 NA 0.02 NA NA NA NA NA 13.3333168 5 2 2 17 10547753 10547753 G A exonic MYH3 NA nonsynonymous SNV MYH3:NM_002470:exon14:c.C1325T:p.T442I exonic ENSG00000109063 NA nonsynonymous SNV ENSG00000109063:ENST00000226209:exon13:c.C1325T:p.T442I,ENSG00000109063:ENST00000583535:exon14:c.C1325T:p.T442I Score=521;Name=lod=174 NA 17p13.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003295 NA 0.27 T 0.003 B 0.008 B . . 0.646 N 0.91 L -2.28 D -0.326 T 0.453 T 0.18 1.496 10.95 4.5 2.496 3.328 11.758 1.495821 1.495821 NA NA NA NA NA NA 13.3333004 25 4 2 X 2833643 2833643 C A exonic ARSD NA nonsynonymous SNV ARSD:NM_001669:exon6:c.G954T:p.Q318H exonic ENSG00000006756 NA nonsynonymous SNV ENSG00000006756:ENST00000381154:exon6:c.G954T:p.Q318H NA NA Xp22.33 NA NA Name=4 NA rs115332247 NA NA 0.06598 NA NA NA NA NA NA NA NA NA NA 0.0001 NA 0.06 T 0.005 B 0.02 B 0.914 N 1.000 P 1.39 L -3.26 D -0.434 T 0.591 D 0.062 0.787 8.15 -6.79 -1.408 -2.691 2.444 0.787191 NA 0.06 NA NA ID=COSM1467377;OCCURENCE=1(large_intestine) NA NA 13.3332334 11 8 2 6 17794837 17794837 T C exonic KIF13A NA nonsynonymous SNV KIF13A:NM_001105566:exon24:c.A3041G:p.D1014G,KIF13A:NM_001105567:exon24:c.A3041G:p.D1014G,KIF13A:NM_001105568:exon24:c.A3041G:p.D1014G,KIF13A:NM_022113:exon24:c.A3041G:p.D1014G exonic ENSG00000137177 NA nonsynonymous SNV ENSG00000137177:ENST00000502297:exon1:c.A92G:p.D31G,ENSG00000137177:ENST00000506044:exon2:c.A221G:p.D74G,ENSG00000137177:ENST00000259711:exon24:c.A3041G:p.D1014G,ENSG00000137177:ENST00000378814:exon24:c.A3041G:p.D1014G,ENSG00000137177:ENST00000378816:exon24:c.A3041G:p.D1014G,ENSG00000137177:ENST00000378826:exon24:c.A3041G:p.D1014G,ENSG00000137177:ENST00000378843:exon24:c.A3041G:p.D1014G Score=456;Name=lod=95 NA 6p22.3 NA NA NA NA rs201793412 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 0.0002 0.13 T 0.14 B 0.247 B 0.000 D 1.000 D 1.895 L 1.21 T -0.649 T 0.257 T 0.94 3.336 17.23 5.55 2.233 5.030 15.984 3.336158 3.336158 0.07 0.000242 0 NA NA NA 13.3329914 14 3 1 12 2907914 2907914 G A exonic FKBP4 NA nonsynonymous SNV FKBP4:NM_002014:exon4:c.G436A:p.E146K exonic ENSG00000004478 NA nonsynonymous SNV ENSG00000004478:ENST00000001008:exon4:c.G436A:p.E146K Score=389;Name=lod=51 NA 12p13.33 NA NA NA NA rs191293085 0.0009 0.0009 NA 0.000599042 0.002 NA 0.0014 NA NA 0.0013 NA 0.0028 NA 0.0000906 0.0028 0.32 T 0.307 B 0.065 B 0.000 D 1.000 D 0.68 N 0.56 T -1.024 T 0.105 T 0.666 3.726 18.92 4.87 2.242 9.383 16.577 3.725768 3.725768 0.54 NA NA NA NA NA 13.3312428 2 1 1 14 64604650 64604650 A G exonic SYNE2 NA nonsynonymous SNV SYNE2:NM_015180:exon79:c.A14792G:p.K4931R,SYNE2:NM_182914:exon79:c.A14792G:p.K4931R exonic ENSG00000054654 NA nonsynonymous SNV ENSG00000054654:ENST00000394768:exon27:c.A3947G:p.K1316R,ENSG00000054654:ENST00000555002:exon30:c.A4694G:p.K1565R,ENSG00000054654:ENST00000554584:exon77:c.A14543G:p.K4848R,ENSG00000054654:ENST00000344113:exon79:c.A14792G:p.K4931R,ENSG00000054654:ENST00000358025:exon79:c.A14792G:p.K4931R,ENSG00000054654:ENST00000357395:exon80:c.A3947G:p.K1316R Score=444;Name=lod=85 NA 14q23.2 NA Name=Rad21,SMC3_(ab9263),CTCF,CTCF_(C-20),CTCF_(SC-5916) Name=50 NA rs147640636 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0007 0.0014 0.41 T 0.282 B 0.159 B 0.006 N 1.000 D 1.295 L 1.36 T -1.101 T 0.068 T 0.143 2.214 13.36 2.12 0.117 2.659 9.838 2.214493 2.214493 0.12 0.001395 0.000227 NA NA NA 13.3312384 20 3 2 7 29966229 29966229 T C exonic SCRN1 NA nonsynonymous SNV SCRN1:NM_001145515:exon6:c.A721G:p.I241V,SCRN1:NM_001145513:exon7:c.A925G:p.I309V,SCRN1:NM_001145514:exon7:c.A985G:p.I329V,SCRN1:NM_014766:exon7:c.A925G:p.I309V exonic ENSG00000136193 NA nonsynonymous SNV ENSG00000136193:ENST00000416113:exon4:c.A403G:p.I135V,ENSG00000136193:ENST00000409497:exon6:c.A925G:p.I309V,ENSG00000136193:ENST00000425819:exon6:c.A721G:p.I241V,ENSG00000136193:ENST00000242059:exon7:c.A925G:p.I309V,ENSG00000136193:ENST00000426154:exon7:c.A925G:p.I309V,ENSG00000136193:ENST00000434476:exon7:c.A985G:p.I329V Score=545;Name=lod=218 NA 7p14.3 NA NA NA NA rs151249549 0.0009 0.0009 NA 0.000399361 0.001 NA NA 0.0008 NA 0.0013 NA NA 0.002 0.0012 0.002 . . 0.103 B 0.031 B 0.000 D 1.000 D 1.63 L 3.18 T -1.086 T 0.036 T 0.142 1.872 12.22 5.68 2.185 3.404 14.796 1.872421 1.872421 0.08 0.001395 0.000908 NA NA NA 13.3297384 1 1 1 18 215504 215504 G A exonic THOC1 NA nonsynonymous SNV THOC1:NM_005131:exon20:c.C1603T:p.P535S exonic ENSG00000079134 NA nonsynonymous SNV ENSG00000079134:ENST00000261600:exon20:c.C1603T:p.P535S Score=645;Name=lod=556 NA 18p11.32 NA NA NA NA rs138671246 0.0009 0.0009 0.001 0.000399361 0.001 NA 0.0014 NA NA 0.0013 NA 0.0028 NA 0.0014 0.0028 0.59 T 0.029 B 0.022 B 0.000 D 1.000 D 0.665 N . . -0.940 T 0.157 T 0.489 1.903 12.32 5.44 2.560 6.757 19.261 1.902522 1.902522 NA 0.001954 0.00027 NA NA NA 13.3289794 2 1 1 5 110096992 110096992 A G exonic SLC25A46 NA nonsynonymous SNV SLC25A46:NM_138773:exon8:c.A767G:p.K256R exonic ENSG00000164209 NA nonsynonymous SNV ENSG00000164209:ENST00000509432:exon4:c.A128G:p.K43R,ENSG00000164209:ENST00000504098:exon7:c.A329G:p.K110R,ENSG00000164209:ENST00000355943:exon8:c.A767G:p.K256R,ENSG00000164209:ENST00000509442:exon8:c.A494G:p.K165R,ENSG00000164209:ENST00000513807:exon8:c.A281G:p.K94R Score=502;Name=lod=146 NA 5q22.1 NA NA NA NA rs141213807 0.0005 0.0005 NA 0.000399361 0.001 NA NA 0.0008 NA 0.0013 NA NA NA 0.002 0.003 0.38 T 0.008 B 0.009 B 0.000 D 1.000 D 1.32 L -1.15 T -0.343 T 0.471 T 0.191 1.528 11.06 5.96 2.284 5.902 16.445 1.528277 1.528277 0.67 0.003024 0.001135 NA NA NA 13.3273094 1 1 1 16 1308156 1308156 G A exonic TPSD1 NA nonsynonymous SNV TPSD1:NM_012217:exon4:c.G617A:p.G206D exonic ENSG00000095917 NA nonsynonymous SNV ENSG00000095917:ENST00000211076:exon4:c.G617A:p.G206D,ENSG00000095917:ENST00000397534:exon5:c.G596A:p.G199D NA NA 16p13.3 NA NA NA NA rs139855296 0.0014 0.0014 0.003 0.000998403 0.005 NA NA NA NA 0.004 NA NA NA 0.0014 0.004 0.55 T 0.607 P 0.505 P 0.000 D 1.000 N 1.41 L -2.42 D -0.420 T 0.562 D 0.558 1.422 10.69 2.09 1.537 -0.018 8.856 1.422312 1.422312 0.35 0.002094 0.000456 NA NA NA 13.3248394 4 1 1 14 92253952 92253952 T G exonic TC2N NA nonsynonymous SNV TC2N:NM_001128595:exon10:c.A1067C:p.E356A,TC2N:NM_001128596:exon10:c.A1067C:p.E356A,TC2N:NM_152332:exon10:c.A1067C:p.E356A exonic ENSG00000165929 NA nonsynonymous SNV ENSG00000165929:ENST00000556590:exon4:c.A323C:p.E108A,ENSG00000165929:ENST00000556018:exon9:c.A875C:p.E292A,ENSG00000165929:ENST00000340892:exon10:c.A1067C:p.E356A,ENSG00000165929:ENST00000360594:exon10:c.A1067C:p.E356A,ENSG00000165929:ENST00000435962:exon10:c.A1067C:p.E356A Score=474;Name=lod=113 NA 14q32.12 NA NA NA NA rs144110131 0.0009 0.0009 0.001 0.000599042 0.002 NA NA 0.0008 NA 0.0026 NA NA NA 0.0023 0.0055 0.21 T 0.874 P 0.641 P 0.000 D 0.923 N 0.345 N 3.42 T -1.099 T 0.026 T 0.475 2.582 14.59 5.73 2.308 6.602 16.312 2.581856 2.581856 0.2 0.005465 0 NA NA NA 13.3235684 4 1 1 16 10775932 10775932 A G exonic TEKT5 NA nonsynonymous SNV TEKT5:NM_144674:exon4:c.T781C:p.C261R exonic ENSG00000153060 NA nonsynonymous SNV ENSG00000153060:ENST00000576638:exon3:c.T100C:p.C34R,ENSG00000153060:ENST00000283025:exon4:c.T781C:p.C261R Score=300;Name=lod=22 NA 16p13.13 NA Name=HNF4A_(H-171),HNF4G_(SC-6558) NA NA rs138988373 0.0018 0.0018 0.002 0.00219649 0.006 NA 0.0058 NA 0.001 0.004 NA 0.0028 NA 0.0025 0.004 0.53 T 0.0 B 0.0 B 0.038 N 0.931 D -1.28 N 4.43 T -0.868 T 0.003 T 0.387 -0.58 1.395 3.88 1.889 1.120 5.513 -0.579606 NA 0.41 0.003372 0.000683 NA NA NA 13.3214614 9 3 2 16 10788200 10788200 C G exonic TEKT5 NA nonsynonymous SNV TEKT5:NM_144674:exon1:c.G531C:p.E177D exonic ENSG00000153060 NA nonsynonymous SNV ENSG00000153060:ENST00000283025:exon1:c.G531C:p.E177D Score=429;Name=lod=74 NA 16p13.13 NA NA NA NA rs148185751 0.0023 0.0023 0 0.00259585 0.006 NA 0.0058 0.0015 0.001 0.004 NA 0.0028 0.002 0.0027 0.004 0.02 D 0.319 B 0.364 B 0.003 N 0.997 D 2.81 M 3.97 T -1.173 T 0.028 T 0.49 1.905 12.33 4.68 1.368 0.283 8.029 1.905042 1.905042 0.01 0.003372 0.001138 NA NA NA 13.3212614 9 3 2 16 2296927 2296927 G A exonic ECI1 NA nonsynonymous SNV ECI1:NM_001178029:exon3:c.C227T:p.T76M,ECI1:NM_001919:exon3:c.C227T:p.T76M exonic ENSG00000167969 NA nonsynonymous SNV ENSG00000167969:ENST00000566379:exon2:c.C50T:p.T17M,ENSG00000167969:ENST00000301729:exon3:c.C227T:p.T76M,ENSG00000167969:ENST00000562238:exon3:c.C227T:p.T76M,ENSG00000167969:ENST00000570258:exon3:c.C50T:p.T17M Score=304;Name=lod=23 NA 16p13.3 NA NA NA NA rs112729404 0.0005 0.0005 NA 0.00658946 0.002 0.001 NA NA 0.0307 0.0013 NA NA NA 0.0083 0.0042 0.1 T 0.962 D 0.344 B 0.000 N 1.000 D 2.01 M -0.37 T -0.712 T 0.228 T 0.795 1.171 9.763 3.22 0.761 6.033 9.082 1.17056 NA 0.01 0.004186 0.000227 NA NA NA 13.3188474 1 1 1 2 136620315 136620315 T C exonic MCM6 NA nonsynonymous SNV MCM6:NM_005915:exon8:c.A1082G:p.N361S exonic ENSG00000076003 NA nonsynonymous SNV ENSG00000076003:ENST00000264156:exon8:c.A1082G:p.N361S Score=698;Name=lod=919 NA 2q21.3 NA NA NA NA rs141448886 0.0027 0.0027 0.001 0.00239617 0.008 0.001 0.0014 NA 0.002 0.01 0.0017 NA NA 0.004 0.01 0.24 T 0.399 B 0.34 B 0.000 D 1.000 D 1.32 L 2.8 T -1.082 T 0.026 T 0.235 4.198 21.8 5.27 1.973 7.589 15.208 4.19751 4.19751 0.05 0.004535 0.000908 NA NA NA 13.3167984 3 1 1 11 65314277 65314277 G C exonic LTBP3 NA nonsynonymous SNV LTBP3:NM_001130144:exon15:c.C2222G:p.A741G,LTBP3:NM_001164266:exon15:c.C1871G:p.A624G,LTBP3:NM_021070:exon15:c.C2222G:p.A741G exonic ENSG00000168056 NA nonsynonymous SNV ENSG00000168056:ENST00000527339:exon2:c.C242G:p.A81G,ENSG00000168056:ENST00000532932:exon4:c.C512G:p.A171G,ENSG00000168056:ENST00000536982:exon10:c.C1100G:p.A367G,ENSG00000168056:ENST00000301873:exon15:c.C2222G:p.A741G,ENSG00000168056:ENST00000322147:exon15:c.C2222G:p.A741G,ENSG00000168056:ENST00000530866:exon16:c.C1955G:p.A652G Score=439;Name=lod=81 NA 11q13.1 Score=987;Name=V$SP1_Q6 Name=Pbx3,IRF1,E2F6_(H-50),TAF1,USF-1,SP1 Name=71 NA rs148780991 0.01 0.01 NA 0.00878594 0.0109 0.002 0.0101 0.0182 NA 0.01 NA 0.01 0.01 0.0074 0.015 0.36 T 0.234 B 0.11 B 0.001 N 1.000 N -0.39 N 1.95 T -1.000 T 0.011 T 0.172 1.888 12.27 4.08 1.109 0.698 9.287 1.887566 1.887566 0.21 0.007009 0.015539 NA NA NA 13.3080244 3 1 1 2 179393691 179393691 G A exonic TTN NA nonsynonymous SNV TTN:NM_003319:exon188:c.C79592T:p.T26531I,TTN:NM_133432:exon189:c.C79967T:p.T26656I,TTN:NM_133437:exon189:c.C80168T:p.T26723I,TTN:NM_133378:exon309:c.C99083T:p.T33028I,TTN:NM_001256850:exon310:c.C101864T:p.T33955I,TTN:NM_001267550:exon360:c.C106787T:p.T35596I exonic ENSG00000155657 NA nonsynonymous SNV ENSG00000155657:ENST00000460472:exon188:c.C79592T:p.T26531I,ENSG00000155657:ENST00000342175:exon189:c.C80168T:p.T26723I,ENSG00000155657:ENST00000359218:exon189:c.C79967T:p.T26656I,ENSG00000155657:ENST00000342992:exon309:c.C99083T:p.T33028I,ENSG00000155657:ENST00000591111:exon310:c.C101864T:p.T33955I,ENSG00000155657:ENST00000589042:exon360:c.C106787T:p.T35596I Score=510;Name=lod=157 NA 2q31.2 NA NA NA NA rs55842557 0.01 0.01 0.004 0.00379393 0.0159 NA 0.0043 NA NA 0.02 NA 0.01 NA 0.0098 0.02 0 D 0.257 B 0.068 B . . 1.000 N 0.695 N 0.25 T -0.944 T 0.084 T 0.158 2.625 14.74 4.74 2.677 3.452 13.248 2.624609 2.624609 NA 0.006818 0.000793 NA NA CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000040981.1|RCV000126004.1;CLNDSDB=.|.;CLNDSDBID=.|. 13.3008154 11 4 4 11 57947223 57947223 C A exonic OR9Q1 NA nonsynonymous SNV OR9Q1:NM_001005212:exon3:c.C307A:p.L103M exonic ENSG00000186509 NA nonsynonymous SNV ENSG00000186509:ENST00000335397:exon3:c.C307A:p.L103M Score=378;Name=lod=46 NA 11q12.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.01 D 0.552 P 0.12 B 0.218 N 0.840 N 1.815 L 7.54 T -0.971 T 0.001 T 0.214 2.148 13.14 2.91 1.436 0.205 1.371 2.147802 2.147802 0.04 NA NA NA NA NA 12.8333334 2 1 1 22 50898827 50898827 G A exonic SBF1 NA nonsynonymous SNV SBF1:NM_002972:exon25:c.C3157T:p.R1053W exonic ENSG00000100241 NA nonsynonymous SNV ENSG00000100241:ENST00000348911:exon25:c.C3160T:p.R1054W,ENSG00000100241:ENST00000380817:exon25:c.C3157T:p.R1053W,ENSG00000100241:ENST00000390679:exon25:c.C3157T:p.R1053W Score=591;Name=lod=336 NA 22q13.33 NA NA NA NA rs202156491 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0007 0.0009 0 D 0.998 D 0.9 P 0.004 N 0.961 D 0.895 L 2.85 T -1.134 T 0.041 T 0.521 3.261 16.94 1.58 0.251 2.910 11.43 3.261272 3.261272 0 0.000936 0 NA NA NA 12.8316974 3 1 1 1 235324219 235324219 G A exonic RBM34 NA nonsynonymous SNV RBM34:NM_001161533:exon2:c.C217T:p.P73S,RBM34:NM_015014:exon2:c.C217T:p.P73S exonic ENSG00000188739 NA nonsynonymous SNV ENSG00000188739:ENST00000366606:exon2:c.C202T:p.P68S,ENSG00000188739:ENST00000408888:exon2:c.C217T:p.P73S,ENSG00000188739:ENST00000429912:exon2:c.C217T:p.P73S,ENSG00000188739:ENST00000447801:exon2:c.C211T:p.P71S NA NA 1q42.3 NA Name=Sin3Ak-20,CHD2_(N-1250),Pol2 Name=115 NA rs181926176 0.0009 0.0009 NA 0.00179712 0.001 NA 0.0086 0.0015 NA NA NA 0.01 NA 0.0004 0.01 0.38 T 0.64 P 0.146 B 0.001 N 0.988 D 2.255 M 2.08 T -1.084 T 0.030 T 0.148 3.302 17.1 0.896 0.273 1.087 6.016 3.301935 3.301935 0.02 0.000364 0.000779 NA NA NA 12.8315694 2 2 2 22 46932032 46932032 T A exonic CELSR1 NA nonsynonymous SNV CELSR1:NM_014246:exon1:c.A1036T:p.T346S exonic ENSG00000075275 NA nonsynonymous SNV ENSG00000075275:ENST00000262738:exon1:c.A1036T:p.T346S,ENSG00000075275:ENST00000395964:exon1:c.A1036T:p.T346S Score=498;Name=lod=141 NA 22q13.31 NA NA NA NA rs142090496 0.0014 0.0014 0.001 0.000798722 0.002 NA 0.0014 NA 0.001 0.0026 NA 0.0028 NA 0.0011 0.0028 0.06 T 0.972 D 0.694 P 0.000 U 0.868 N 1.785 L 4.66 T -1.100 T 0.013 T 0.512 3.017 16.06 4.21 1.553 4.777 12.956 3.016895 3.016895 0.12 0.002674 0.000454 NA NA NA 12.8275594 12 2 2 4 37591783 37591783 G A exonic C4orf19 NA nonsynonymous SNV C4orf19:NM_018302:exon3:c.G106A:p.D36N,C4orf19:NM_001104629:exon4:c.G106A:p.D36N exonic ENSG00000154274 NA nonsynonymous SNV ENSG00000154274:ENST00000284437:exon3:c.G106A:p.D36N,ENSG00000154274:ENST00000381980:exon4:c.G106A:p.D36N Score=278;Name=lod=18 NA 4p14 NA NA NA NA rs75469859 0.0014 0.0014 NA 0.00119808 0.003 NA 0.0014 NA 0.002 0.004 NA NA NA 0.0014 0.004 0.08 T 0.977 D 0.787 P 0.462 N 1.000 N 1.59 L 1.49 T -0.973 T 0.129 T 0.104 4.191 21.7 5.54 2.884 3.783 13.080 4.191373 4.191373 0.01 0.001744 0 NA NA NA 12.8271894 4 1 1 11 124756982 124756982 G A exonic ROBO4 NA nonsynonymous SNV ROBO4:NM_019055:exon15:c.C2326T:p.R776C exonic ENSG00000154133 NA nonsynonymous SNV ENSG00000154133:ENST00000306534:exon15:c.C2326T:p.R776C,ENSG00000154133:ENST00000533054:exon15:c.C1891T:p.R631C Score=358;Name=lod=38 NA 11q24.2 NA NA NA NA rs138481093 0.0037 0.0037 0.005 0.00199681 0.006 0.001 0.0029 0.0008 NA 0.01 0.0017 0.0028 0.0041 0.005 0.01 0.1 T 0.986 D 0.534 P 0.303 N 0.997 N 1.78 L 0.18 T -0.922 T 0.206 T 0.267 2.484 14.26 3.83 0.955 1.196 7.800 2.483817 2.483817 0.04 0.007444 0.002499 NA NA NA 12.8148894 2 1 1 21 43708422 43708422 G A exonic ABCG1 NA synonymous SNV ABCG1:NM_004915:exon10:c.G1260A:p.S420S,ABCG1:NM_016818:exon10:c.G1224A:p.S408S,ABCG1:NM_207174:exon10:c.G1257A:p.S419S,ABCG1:NM_207629:exon10:c.G1215A:p.S405S,ABCG1:NM_207627:exon11:c.G1230A:p.S410S,ABCG1:NM_207628:exon12:c.G1158A:p.S386S exonic ENSG00000160179 NA synonymous SNV ENSG00000160179:ENST00000343687:exon10:c.G1257A:p.S419S,ENSG00000160179:ENST00000347800:exon10:c.G1215A:p.S405S,ENSG00000160179:ENST00000361802:exon10:c.G1260A:p.S420S,ENSG00000160179:ENST00000398449:exon10:c.G1224A:p.S408S,ENSG00000160179:ENST00000340588:exon11:c.G1584A:p.S528S,ENSG00000160179:ENST00000398437:exon11:c.G1698A:p.S566S,ENSG00000160179:ENST00000398457:exon11:c.G1230A:p.S410S Score=596;Name=lod=353 NA 21q22.3 Score=819;Name=V$PAX2_01 NA Name=33 NA rs141061143 0.0009 0.0009 NA 0.00139776 NA NA 0.0014 0.0045 NA NA NA NA 0.0041 0.0002 0.0041 . . . . . . . . 1.000 D . . . . -0.818 T 0.217 T . 1.669 11.54 2.3 0.883 3.009 9.973 1.669497 1.669497 NA 0 0.000681 NA NA NA 12.6664666 5 1 1 3 48669454 48669454 G C exonic SLC26A6 NA nonsynonymous SNV SLC26A6:NM_001040454:exon5:c.C546G:p.F182L,SLC26A6:NM_022911:exon6:c.C609G:p.F203L,SLC26A6:NM_134263:exon6:c.C609G:p.F203L,SLC26A6:NM_134426:exon6:c.C609G:p.F203L exonic ENSG00000225697 NA nonsynonymous SNV ENSG00000225697:ENST00000421649:exon2:c.C147G:p.F49L,ENSG00000225697:ENST00000444531:exon2:c.C117G:p.F39L,ENSG00000225697:ENST00000358747:exon5:c.C546G:p.F182L,ENSG00000225697:ENST00000426599:exon5:c.C505G:p.R169G,ENSG00000225697:ENST00000431739:exon5:c.C457G:p.R153G,ENSG00000225697:ENST00000455886:exon5:c.C505G:p.R169G,ENSG00000225697:ENST00000383733:exon6:c.C609G:p.F203L,ENSG00000225697:ENST00000395550:exon6:c.C609G:p.F203L,ENSG00000225697:ENST00000420764:exon6:c.C609G:p.F203L Score=534;Name=lod=197 NA 3p21.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.1 T 0.36 B 0.119 B . . 1.000 D 0.395 N -2.71 D -0.432 T 0.508 D 0.203 2.937 15.79 -1.36 -0.230 -0.296 9.944 2.937282 2.937282 0.08 NA NA NA NA NA 12.3333334 1 1 1 5 79739010 79739010 A G exonic ZFYVE16 NA nonsynonymous SNV ZFYVE16:NM_014733:exon5:c.A2488G:p.T830A,ZFYVE16:NM_001105251:exon6:c.A2488G:p.T830A exonic ENSG00000039319 NA nonsynonymous SNV ENSG00000039319:ENST00000509558:exon1:c.A40G:p.T14A,ENSG00000039319:ENST00000338008:exon5:c.A2488G:p.T830A,ENSG00000039319:ENST00000505560:exon6:c.A2488G:p.T830A,ENSG00000039319:ENST00000510158:exon6:c.A2488G:p.T830A Score=422;Name=lod=69 NA 5q14.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.22 T 0.0 B 0.0 B 0.101 N 0.993 N -1.01 N 1.23 T -1.047 T 0.029 T 0.052 -0.917 0.403 3.54 1.322 2.711 6.840 -0.917387 NA 0.45 NA NA NA NA NA 12.3333334 1 1 1 19 48343000 48343000 G A exonic CRX NA nonsynonymous SNV CRX:NM_000554:exon4:c.G676A:p.V226M exonic ENSG00000105392 NA nonsynonymous SNV ENSG00000105392:ENST00000221996:exon4:c.G676A:p.V226M,ENSG00000105392:ENST00000539067:exon4:c.G676A:p.V226M Score=450;Name=lod=90 NA 19q13.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.16 T 0.026 B 0.017 B 0.050 N 1.000 N 0.69 N -2.03 D -0.769 T 0.328 T 0.135 2.765 15.21 2.04 0.415 3.937 4.446 2.765373 2.765373 0.13 NA NA ID=COSM439884;OCCURENCE=1(breast) NA NA 12.3333334 2 1 1 19 37619496 37619496 G C exonic ZNF420 NA nonsynonymous SNV ZNF420:NM_144689:exon5:c.G1603C:p.E535Q exonic ENSG00000197050 NA nonsynonymous SNV ENSG00000197050:ENST00000337995:exon5:c.G1603C:p.E535Q NA NA 19q13.12 NA Name=SETDB1,ZNF274,KAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008241 NA . . 0.821 P 0.57 P . . 1.000 N 1.275 L 3.19 T -1.027 T 0.027 T 0.114 -0.695 0.987 2.01 0.980 0.447 9.288 -0.695326 NA 0.24 NA NA NA NA NA 12.3333252 1 1 1 10 131965213 131965213 A G exonic GLRX3 NA nonsynonymous SNV GLRX3:NM_001199868:exon6:c.A682G:p.I228V,GLRX3:NM_006541:exon6:c.A682G:p.I228V exonic ENSG00000108010 NA nonsynonymous SNV ENSG00000108010:ENST00000331244:exon6:c.A682G:p.I228V,ENSG00000108010:ENST00000368644:exon6:c.A682G:p.I228V,ENSG00000108010:ENST00000481034:exon6:c.A682G:p.I228V Score=549;Name=lod=227 NA 10q26.3 Score=827;Name=V$GR_Q6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008284 NA 0.5 T 0.002 B 0.002 B 0.002 N 0.742 N 0.015 N 3.2 T -0.975 T 0.011 T 0.111 -0.79 0.704 2.65 0.259 2.013 8.717 -0.789589 NA 0.74 NA NA NA NA NA 12.3333251 2 1 1 12 32490627 32490627 T C exonic BICD1 NA nonsynonymous SNV BICD1:NM_001003398:exon7:c.T2447C:p.I816T,BICD1:NM_001714:exon7:c.T2447C:p.I816T exonic ENSG00000151746 NA nonsynonymous SNV ENSG00000151746:ENST00000281474:exon7:c.T2447C:p.I816T,ENSG00000151746:ENST00000395758:exon7:c.T2447C:p.I816T,ENSG00000151746:ENST00000548411:exon7:c.T2447C:p.I816T Score=780;Name=lod=1975 NA 12p11.21 NA NA NA NA rs200867915 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004119 NA 0.48 T 0.008 B 0.007 B 0.001 N 1.000 D 0 N 1.01 T -1.071 T 0.052 T 0.462 -0.171 3.168 4.66 1.968 2.694 10.447 -0.170539 NA 0.83 NA NA NA NA NA 12.3332922 2 1 1 15 75131031 75131031 T C exonic ULK3 NA nonsynonymous SNV ULK3:NM_001099436:exon10:c.A1055G:p.N352S exonic ENSG00000140474 NA nonsynonymous SNV ENSG00000140474:ENST00000440863:exon10:c.A1055G:p.N352S,ENSG00000140474:ENST00000568667:exon10:c.A1088G:p.N363S,ENSG00000140474:ENST00000569437:exon10:c.A1055G:p.N352S Score=446;Name=lod=87 NA 15q24.1 Score=920;Name=V$HOXA3_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00005975 NA 0.39 T 0.017 B 0.007 B . . 0.815 D 1.085 L 2.06 T -1.034 T 0.033 T 0.073 2.008 12.67 1.63 0.022 2.325 5.607 2.008193 2.008193 0.23 NA NA ID=COSM1478352;OCCURENCE=1(breast) NA NA 12.3332736 2 1 1 20 33584521 33584521 G A exonic MYH7B NA nonsynonymous SNV MYH7B:NM_020884:exon30:c.G3352A:p.A1118T exonic ENSG00000078814 NA nonsynonymous SNV ENSG00000078814:ENST00000262873:exon28:c.G3352A:p.A1118T NA NA 20q11.22 NA NA Name=3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0003 NA 0.01 D 0.425 B 0.237 B 0.438 N 1.000 N 0.69 N -1.66 D -0.690 T 0.310 T 0.062 1.258 10.1 2.09 0.375 0.109 1.085 1.258267 1.258267 0.02 NA NA NA NA NA 12.3330334 8 1 1 10 105104826 105104826 C T exonic PCGF6 NA nonsynonymous SNV PCGF6:NM_001011663:exon6:c.G737A:p.R246H exonic ENSG00000156374 NA nonsynonymous SNV ENSG00000156374:ENST00000369847:exon6:c.G737A:p.R246H Score=629;Name=lod=480 NA 10q24.33 Score=842;Name=V$IRF7_01 NA NA NA rs137910892 NA NA NA 0.000199681 NA NA NA NA 0.001 NA NA NA NA 0.0002 0.0006 0.47 T 0.002 B 0.001 B 0.001 N 1.000 D 0.59 N 1.38 T -1.098 T 0.054 T 0.234 2.458 14.18 3.84 0.763 4.684 11.892 2.457667 2.457667 0.32 0.000581 0 NA NA NA 12.3325524 1 1 1 10 102738626 102738626 G A exonic SEMA4G NA nonsynonymous SNV SEMA4G:NM_001203244:exon7:c.G664A:p.V222I,SEMA4G:NM_017893:exon7:c.G664A:p.V222I exonic ENSG00000095539 NA nonsynonymous SNV ENSG00000095539:ENST00000210633:exon7:c.G664A:p.V222I,ENSG00000095539:ENST00000370250:exon7:c.G664A:p.V222I,ENSG00000095539:ENST00000517724:exon7:c.G664A:p.V222I,ENSG00000095539:ENST00000519649:exon8:c.G664A:p.V222I,ENSG00000095539:ENST00000521006:exon8:c.G664A:p.V222I Score=440;Name=lod=82 NA 10q24.31 NA NA NA NA rs138710515 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0003 0.0006 0.38 T 0.208 B 0.052 B 0.000 N 1.000 D 1.015 L 2.83 T -1.021 T 0.021 T 0.171 2.339 13.78 4.73 1.380 4.521 11.636 2.339296 2.339296 0.13 0.000581 0 NA NA NA 12.3324524 1 1 1 8 8749895 8749895 G A exonic MFHAS1 NA nonsynonymous SNV MFHAS1:NM_004225:exon1:c.C674T:p.A225V exonic ENSG00000147324 NA nonsynonymous SNV ENSG00000147324:ENST00000276282:exon1:c.C674T:p.A225V Score=452;Name=lod=92 NA 8p23.1 NA Name=Pol2 Name=113 NA rs140544252 0 0 NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0003 0.0007 0.37 T 0.146 B 0.038 B 0.004 N 0.926 N 1.58 L 1.81 T -1.046 T 0.050 T 0.187 0.541 6.931 3.45 0.573 3.018 9.058 0.541412 NA 0.79 0.000698 0 NA NA NA 12.3313354 1 1 1 12 108686280 108686280 G A exonic CMKLR1 NA nonsynonymous SNV CMKLR1:NM_001142344:exon3:c.C460T:p.R154C,CMKLR1:NM_001142345:exon3:c.C460T:p.R154C,CMKLR1:NM_004072:exon3:c.C454T:p.R152C,CMKLR1:NM_001142343:exon4:c.C460T:p.R154C exonic ENSG00000174600 NA nonsynonymous SNV ENSG00000174600:ENST00000312143:exon3:c.C460T:p.R154C,ENSG00000174600:ENST00000397688:exon3:c.C454T:p.R152C,ENSG00000174600:ENST00000412676:exon3:c.C460T:p.R154C,ENSG00000174600:ENST00000552995:exon3:c.C454T:p.R152C,ENSG00000174600:ENST00000550402:exon4:c.C460T:p.R154C NA NA 12q23.3 NA NA NA NA rs146650378 0.0005 0.0005 0.001 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0005 0.0013 0.01 D 0.947 P 0.567 P 0.007 N 0.998 N 1.91 M 0.95 T -0.900 T 0.147 T 0.675 0.755 8 2.29 0.163 1.409 14.505 0.755197 NA 0.02 0.000588 0 NA NA NA 12.3312454 1 1 1 1 110882499 110882499 T G exonic RBM15 NA nonsynonymous SNV RBM15:NM_001201545:exon1:c.T472G:p.S158A,RBM15:NM_022768:exon1:c.T472G:p.S158A exonic ENSG00000162775 NA nonsynonymous SNV ENSG00000162775:ENST00000369784:exon1:c.T472G:p.S158A,ENSG00000162775:ENST00000487146:exon1:c.T472G:p.S158A,ENSG00000162775:ENST00000602849:exon1:c.T472G:p.S158A Score=435;Name=lod=78 NA 1p13.3 NA Name=ELK4,Egr-1,Pol2,USF1_(SC-8983),E2F6_(H-50),Sin3Ak-20 Name=72 NA rs200933258 0.0014 0.0014 NA 0.000599042 0.002 NA 0.0014 NA NA 0.0026 NA 0.0028 NA 0.0002 0.0028 0.59 T 0.039 B 0.013 B 0.001 N 0.969 N -0.345 N 0.9 T -0.959 T 0.014 T 0.17 0.918 8.735 2.79 0.954 0.908 6.709 0.917509 NA 0.78 NA NA NA NA NA 12.3311334 1 1 1 12 52962157 52962157 G A exonic KRT74 NA nonsynonymous SNV KRT74:NM_175053:exon7:c.C1151T:p.T384M exonic ENSG00000170484 NA nonsynonymous SNV ENSG00000170484:ENST00000305620:exon7:c.C1151T:p.T384M,ENSG00000170484:ENST00000549343:exon8:c.C1193T:p.T398M Score=371;Name=lod=43 NA 12q13.13 NA NA NA NA NA NA NA NA 0.000599042 0.002 0.001 NA NA NA NA NA NA NA 0.0003 NA 0.05 D 0.926 P 0.507 P 0.004 N 1.000 N 1.415 L -0.97 T -0.249 T 0.563 D 0.108 2.385 13.93 1.3 0.137 0.560 10.230 2.385147 2.385147 0.1 NA NA ID=COSM124031;OCCURENCE=1(upper_aerodigestive_tract) NA NA 12.3310334 3 1 1 18 47463727 47463727 G A exonic MYO5B NA nonsynonymous SNV MYO5B:NM_001080467:exon15:c.C1793T:p.P598L exonic ENSG00000167306 NA nonsynonymous SNV ENSG00000167306:ENST00000285039:exon15:c.C1793T:p.P598L NA NA 18q21.1 NA NA NA NA rs75107667 0.01 0.01 0.008 0.0091853 NA 0.001 0.0029 0.0325 NA NA 0.0035 0.0028 0.03 0.0023 0.03 0.08 T 0.002 B 0.014 B 0.531 N 0.824 D 0.435 N -3.62 D -0.408 T 0.460 T 0.031 1.509 11 4.39 1.229 3.859 12.897 1.509013 1.509013 0.14 0.00012 0.021378 NA 0.022 NA 12.3309134 14 3 1 16 72831132 72831132 C A exonic ZFHX3 NA nonsynonymous SNV ZFHX3:NM_001164766:exon8:c.G2707T:p.V903L,ZFHX3:NM_006885:exon9:c.G5449T:p.V1817L exonic ENSG00000140836 NA nonsynonymous SNV ENSG00000140836:ENST00000397992:exon8:c.G2707T:p.V903L,ENSG00000140836:ENST00000268489:exon9:c.G5449T:p.V1817L Score=343;Name=lod=33 NA 16q22.2 NA NA NA NA rs148334947 0.0009 0.0009 0.002 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA 0.0009 0.0026 0.71 T 0.002 B 0.002 B 0.000 D 0.798 N 0.345 N -0.7 T -0.966 T 0.172 T 0.167 0.787 8.149 6.03 2.854 2.503 15.258 0.786921 NA NA 0.001512 0.000227 NA NA NA 12.3289214 2 1 1 12 39724052 39724052 A G exonic KIF21A NA nonsynonymous SNV KIF21A:NM_001173465:exon22:c.T3224C:p.V1075A,KIF21A:NM_017641:exon23:c.T3293C:p.V1098A,KIF21A:NM_001173464:exon24:c.T3332C:p.V1111A exonic ENSG00000139116 NA nonsynonymous SNV ENSG00000139116:ENST00000551066:exon4:c.T395C:p.V132A,ENSG00000139116:ENST00000541463:exon22:c.T3224C:p.V1075A,ENSG00000139116:ENST00000361961:exon23:c.T3293C:p.V1098A,ENSG00000139116:ENST00000361418:exon24:c.T3332C:p.V1111A Score=623;Name=lod=454 NA 12q12 NA NA NA NA rs150294289 0.0027 0.0027 NA 0.00139776 0.004 NA 0.0043 NA NA 0.01 NA 0.01 NA 0.0011 0.01 0.78 T 0.0 B 0.002 B . . 1.000 D 0 N -0.38 T -1.059 T 0.067 T 0.2 1.483 10.91 4.82 1.089 4.647 11.237 1.482908 1.482908 0.36 0.001628 0.000681 NA NA NA 12.3266054 6 1 1 10 95931011 95931011 A G exonic PLCE1 NA nonsynonymous SNV PLCE1:NM_001165979:exon3:c.A643G:p.I215V,PLCE1:NM_016341:exon4:c.A1567G:p.I523V exonic ENSG00000138193 NA nonsynonymous SNV ENSG00000138193:ENST00000371375:exon3:c.A643G:p.I215V,ENSG00000138193:ENST00000371380:exon3:c.A1567G:p.I523V,ENSG00000138193:ENST00000371385:exon3:c.A643G:p.I215V,ENSG00000138193:ENST00000260766:exon4:c.A1567G:p.I523V Score=497;Name=lod=140 NA 10q23.33 Score=949;Name=V$CDPCR3HD_01 NA NA NA rs61751494 NA NA NA 0.000798722 0.003 NA 0.0014 NA NA NA NA NA NA 0.0016 0.0035 0.44 T 0.006 B 0.004 B 0.001 D 0.930 N 0.46 N 1.45 T -1.047 T 0.038 T 0.089 0.552 6.986 5.71 2.172 0.905 5.729 0.55195 NA 0.15 0.003481 0.000249 NA NA NA 12.3252524 10 1 1 4 5620263 5620263 G A exonic EVC2 NA nonsynonymous SNV EVC2:NM_001166136:exon15:c.C2408T:p.A803V,EVC2:NM_147127:exon15:c.C2648T:p.A883V exonic ENSG00000173040 NA nonsynonymous SNV ENSG00000173040:ENST00000310917:exon15:c.C2408T:p.A803V,ENSG00000173040:ENST00000344408:exon15:c.C2648T:p.A883V,ENSG00000173040:ENST00000344938:exon15:c.C2648T:p.A883V,ENSG00000173040:ENST00000475313:exon15:c.C2408T:p.A803V NA NA 4p16.2 NA NA NA NA rs140951974 0.0027 0.0027 NA 0.00179712 0.006 NA 0.0029 NA 0.001 0.01 NA 0.01 NA 0.004 0.01 0.21 T 0.97 D 0.265 B 0.000 D 1.000 N 0.695 N -1.04 T -0.822 T 0.168 T 0.311 2.833 15.44 4.37 2.488 1.943 9.876 2.832975 2.832975 0.05 0.003953 0.000227 NA NA NA 12.3193804 4 1 1 17 5085637 5085637 G A exonic ZNF594 NA nonsynonymous SNV ZNF594:NM_032530:exon2:c.C1915T:p.L639F exonic ENSG00000180626 NA nonsynonymous SNV ENSG00000180626:ENST00000399604:exon1:c.C1915T:p.L639F,ENSG00000180626:ENST00000575779:exon2:c.C1915T:p.L639F NA NA 17p13.2 NA Name=SETDB1,KAP1 NA NA rs189770499 0.0023 0.0023 NA 0.00239617 0.004 NA 0.0029 NA 0.0061 0.004 NA 0.01 NA 0.0048 0.01 0.05 D 1.0 D 0.996 D . . 1.000 N 2.325 M 0.68 T -0.924 T 0.180 T 0.123 1.264 10.12 -0.665 0.034 0.296 5.464 1.26438 1.26438 0.04 0.006534 0.001159 NA NA NA 12.3179994 4 1 1 10 119043458 119043458 T G exonic PDZD8 NA nonsynonymous SNV PDZD8:NM_173791:exon5:c.A2786C:p.N929T exonic ENSG00000165650 NA nonsynonymous SNV ENSG00000165650:ENST00000334464:exon5:c.A2786C:p.N929T NA NA 10q25.3 Score=810;Name=V$PBX1_02 NA NA NA rs140922572 0.0014 0.0014 0.001 0.000798722 0.004 NA NA NA NA 0.004 NA NA NA 0.0052 0.0067 0.37 T 0.132 B 0.051 B 0.001 N 0.975 N 0.805 L -2.03 D -0.798 T 0.278 T 0.065 -0.23 2.889 3.17 1.011 2.484 8.570 -0.230091 NA 0.36 0.006744 0.00227 NA NA NA 12.3173894 1 1 1 19 15760883 15760883 G A exonic CYP4F3 NA nonsynonymous SNV CYP4F3:NM_000896:exon7:c.G808A:p.V270I,CYP4F3:NM_001199208:exon7:c.G808A:p.V270I,CYP4F3:NM_001199209:exon7:c.G808A:p.V270I exonic ENSG00000186529 NA nonsynonymous SNV ENSG00000186529:ENST00000585846:exon6:c.G808A:p.V270I,ENSG00000186529:ENST00000221307:exon7:c.G808A:p.V270I,ENSG00000186529:ENST00000586182:exon7:c.G808A:p.V270I,ENSG00000186529:ENST00000591058:exon7:c.G808A:p.V270I Score=295;Name=lod=21 NA 19p13.12 Score=933;Name=V$TCF11_01 NA NA NA rs28371536 0.0032 0.0032 0.003 0.00299521 0.0099 NA 0.0043 NA 0.002 0.01 NA NA NA 0.0063 0.01 0.07 T 0.05 B 0.19 B 0.004 U 0.971 D 0.395 N -0.34 T -0.899 T 0.131 T 0.126 1.854 12.16 2.94 0.667 4.257 9.454 1.853745 1.853745 0.07 0.009302 0.001135 NA NA NA 12.3078314 9 1 1 6 132203615 132203615 G A splicing ENPP1 NM_006208:exon21:c.2230+1G>A NA NA splicing ENSG00000197594 ENST00000360971:exon21:c.2230+1G>A,ENST00000513998:exon21:c.2204+1G>A NA NA Score=387;Name=lod=50 NA 6q23.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008239 NA . . . . . . . . 1.000 D . . . . . . . . . 4.254 22.2 6.16 2.937 6.338 18.633 4.253761 4.253761 NA NA NA NA NA NA 11.9999918 7 1 1 4 165878621 165878621 G A exonic FAM218A NA stopgain FAM218A:NM_153027:exon1:c.G447A:p.W149X exonic ENSG00000250486 NA stopgain ENSG00000250486:ENST00000513876:exon1:c.G447A:p.W149X NA NA 4q32.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001662 NA 0 D . . . . . . 1.000 N . . . . . . . . . 1.594 11.29 -2.48 -1.270 -0.507 0.078 1.593966 1.593966 0 NA NA NA NA NA 11.9999834 1 1 1 3 40085760 40085760 G A exonic MYRIP NA synonymous SNV MYRIP:NM_015460:exon3:c.G330A:p.A110A exonic ENSG00000170011 NA nonsynonymous SNV ENSG00000170011:ENST00000396217:exon3:c.G200A:p.R67Q Score=489;Name=lod=129 NA 3p22.1 Score=797;Name=V$COMP1_01 Name=FOXA1_(C-20) NA NA rs56248790 0.0027 0.0027 NA 0.00219649 0.006 NA 0.0029 NA 0.0031 0.01 NA 0.0028 NA 0.0022 0.01 . . 0.017 B 0.002 B . . 1.000 D . . 2.0 T -1.012 T 0.018 T . 2.746 15.14 -10.9 -2.763 0.008 12.247 2.745583 2.745583 0.02 0.002209 0.001135 NA NA NA 11.989591 1 1 1 2 167273315 167273315 G A exonic SCN7A NA nonsynonymous SNV SCN7A:NM_002976:exon20:c.C3316T:p.R1106W exonic ENSG00000136546 NA nonsynonymous SNV ENSG00000136546:ENST00000409855:exon20:c.C3316T:p.R1106W NA NA 2q24.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002591 NA 0 D 0.669 P 0.04 B 0.736 N 1.000 N -0.625 N -4.09 D -0.293 T 0.632 D 0.15 0.416 6.26 0.442 0.172 0.805 16.370 0.416089 NA 0 NA NA NA NA NA 11.8333075 1 1 1 1 75702736 75702736 C A exonic SLC44A5 NA nonsynonymous SNV SLC44A5:NM_001130058:exon11:c.G676T:p.D226Y,SLC44A5:NM_152697:exon11:c.G676T:p.D226Y exonic ENSG00000137968 NA nonsynonymous SNV ENSG00000137968:ENST00000535611:exon8:c.G286T:p.D96Y,ENSG00000137968:ENST00000370855:exon11:c.G676T:p.D226Y,ENSG00000137968:ENST00000370859:exon11:c.G676T:p.D226Y NA NA 1p31.1 NA NA NA NA rs143251034 0.0009 0.0009 0.002 0.000399361 0.001 NA 0.0014 NA NA 0.0013 NA 0.0028 NA 0.0004 0.0028 0 D 0.982 D 0.891 P 0.202 N 0.998 D 2.175 M 2.84 T -1.038 T 0.045 T 0.374 1.643 11.45 -1.47 0.010 0.671 6.567 1.643121 1.643121 0.02 0.000116 0 NA NA NA 11.8318174 3 1 1 12 14976375 14976375 C T exonic C12orf60 NA nonsynonymous SNV C12orf60:NM_175874:exon2:c.C506T:p.T169I exonic ENSG00000182993 NA nonsynonymous SNV ENSG00000182993:ENST00000330828:exon2:c.C506T:p.T169I NA NA 12p12.3 Score=1000;Name=V$AML1_01 NA NA NA rs149459242 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0006 0.001 0.01 D 0.893 P 0.432 B 0.061 N 1.000 N 1.1 L 2.24 T -1.060 T 0.032 T 0.186 1.469 10.86 2.37 1.185 0.673 4.778 1.468777 1.468777 0.04 0.001047 0.000681 NA NA NA 11.8306864 1 1 1 17 80543972 80543972 C T exonic FOXK2 NA nonsynonymous SNV FOXK2:NM_004514:exon7:c.C1472T:p.A491V exonic ENSG00000141568 NA nonsynonymous SNV ENSG00000141568:ENST00000335255:exon7:c.C1472T:p.A491V,ENSG00000141568:ENST00000473637:exon7:c.C1472T:p.A491V NA NA 17q25.3 NA NA NA NA rs12150682 0.0041 0.0041 0.008 0.00379393 0.0159 NA 0.0014 0.0015 NA 0.01 NA 0.0028 NA 0.0055 0.011 0.05 D 0.83 P 0.221 B 0.005 N 1.000 N 0.69 N -3.34 D -0.295 T 0.481 T 0.665 2.139 13.11 3.37 0.824 2.432 9.069 2.138568 2.138568 0.06 0.008394 0.001137 NA 0.007 NA 11.8035394 6 2 1 1 227921376 227921376 C T exonic JMJD4 NA synonymous SNV JMJD4:NM_001161465:exon4:c.G699A:p.P233P,JMJD4:NM_023007:exon4:c.G699A:p.P233P exonic ENSG00000081692 NA synonymous SNV ENSG00000081692:ENST00000366758:exon4:c.G699A:p.P233P,ENSG00000081692:ENST00000438896:exon4:c.G699A:p.P233P NA NA 1q42.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002534 NA . . . . . . . . 1.000 D . . . . -0.853 T 0.140 T . -0.045 3.784 -8.45 -1.873 -3.526 7.639 -0.045005 NA NA NA NA NA NA NA 11.6666413 2 1 1 3 124438188 124438188 C T exonic KALRN NA synonymous SNV KALRN:NM_007064:exon27:c.C3741T:p.S1247S,KALRN:NM_001024660:exon60:c.C8832T:p.S2944S exonic ENSG00000160145 NA synonymous SNV ENSG00000160145:ENST00000428018:exon26:c.C3645T:p.S1215S,ENSG00000160145:ENST00000291478:exon27:c.C3741T:p.S1247S,ENSG00000160145:ENST00000360013:exon60:c.C8832T:p.S2944S Score=573;Name=lod=285 NA 3q21.2 NA NA NA NA rs56410073 0.0005 0.0005 NA 0.00159744 0.005 0.001 0.0029 NA NA 0.0013 NA NA NA 0.0028 0.0044 . . . . . . . . 1.000 D . . . . -0.772 T 0.223 T . 0.525 6.844 4.42 1.445 1.953 9.625 0.524926 NA NA 0.004419 0.001816 NA NA NA 11.6544476 16 1 1 9 140611555 140611555 A G exonic EHMT1 NA nonsynonymous SNV EHMT1:NM_001145527:exon3:c.A563G:p.D188G,EHMT1:NM_024757:exon3:c.A563G:p.D188G exonic ENSG00000181090 NA nonsynonymous SNV ENSG00000181090:ENST00000334856:exon3:c.A470G:p.D157G,ENSG00000181090:ENST00000460843:exon3:c.A563G:p.D188G,ENSG00000181090:ENST00000462484:exon3:c.A563G:p.D188G NA NA 9q34.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.39 T 0.005 B 0.003 B 0.137 N 1.000 N 1.39 L 1.69 T -0.991 T 0.180 T 0.135 2.146 13.13 4.62 2.236 1.808 7.636 2.145627 2.145627 0.04 NA NA NA NA NA 11.3333334 16 2 1 3 49841903 49841903 G A exonic FAM212A NA nonsynonymous SNV FAM212A:NM_203370:exon2:c.G347A:p.R116H exonic ENSG00000185614 NA nonsynonymous SNV ENSG00000185614:ENST00000333323:exon2:c.G347A:p.R116H Score=278;Name=lod=18 NA 3p21.31 NA Name=Max,ZNF263 Name=30 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008259 NA 0.34 T 0.007 B 0.006 B 0.630 N 0.953 N -0.115 N . . -1.005 T 0.039 T 0.149 0.458 6.489 1.95 0.156 0.528 5.073 0.458382 NA 0.24 NA NA NA NA NA 11.3333251 1 1 1 1 44595144 44595144 G T exonic KLF17 NA nonsynonymous SNV KLF17:NM_173484:exon2:c.G201T:p.M67I exonic ENSG00000171872 NA nonsynonymous SNV ENSG00000171872:ENST00000372299:exon2:c.G201T:p.M67I NA NA 1p34.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008433 NA 0.09 T 0.16 B 0.027 B 0.233 N 1.000 N 0.55 N 3.2 T -0.999 T 0.015 T 0.038 1.891 12.28 3.66 1.520 1.800 10.296 1.89087 1.89087 0.05 NA NA NA NA NA 11.333325 5 1 1 17 48435851 48435851 G A exonic XYLT2 NA nonsynonymous SNV XYLT2:NM_022167:exon10:c.G2225A:p.R742H exonic ENSG00000015532 NA nonsynonymous SNV ENSG00000015532:ENST00000017003:exon10:c.G2225A:p.R742H Score=587;Name=lod=324 NA 17q21.33 NA NA NA NA rs369581548 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002489 NA 0.14 T 0.023 B 0.009 B 0.014 N 1.000 D 1.59 L 3.56 T -1.002 T 0.014 T 0.235 3.337 17.23 2.62 0.571 1.659 7.786 3.337102 3.337102 0.03 NA NA NA NA NA 11.3333085 2 1 1 22 46804943 46804943 T C exonic CELSR1 NA nonsynonymous SNV CELSR1:NM_014246:exon9:c.A5176G:p.S1726G exonic ENSG00000075275 NA nonsynonymous SNV ENSG00000075275:ENST00000262738:exon9:c.A5176G:p.S1726G Score=235;Name=lod=12 NA 22q13.31 NA NA NA NA rs201049711 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004212 NA 1 T 0.0 B 0.0 B 0.001 N 1.000 D -2.12 N -0.08 T -0.939 T 0.044 T 0.061 -1.033 0.216 2.45 0.355 1.784 11.220 -1.032644 NA 1 NA NA NA NA NA 11.3332913 12 2 2 1 196963210 196963210 A G exonic CFHR5 NA nonsynonymous SNV CFHR5:NM_030787:exon4:c.A431G:p.K144R exonic ENSG00000134389 NA nonsynonymous SNV ENSG00000134389:ENST00000256785:exon4:c.A431G:p.K144R,ENSG00000134389:ENST00000367414:exon4:c.A503G:p.K168R Score=251;Name=lod=14 NA 1q31.3 NA NA NA NA rs201787238 NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA 0.00007569 0.0002 . . 0.378 B 0.15 B . . 1.000 N 0.805 L 1.64 T -0.902 T 0.224 T 0.106 1.534 11.08 3.98 1.448 1.781 9.268 1.533854 1.533854 0.01 0 0.000228 NA NA NA 11.3332577 3 1 1 4 159091777 159091777 C G exonic FAM198B NA nonsynonymous SNV FAM198B:NM_001031700:exon2:c.G751C:p.G251R,FAM198B:NM_001128424:exon2:c.G751C:p.G251R,FAM198B:NM_016613:exon2:c.G751C:p.G251R exonic ENSG00000164125 NA nonsynonymous SNV ENSG00000164125:ENST00000296530:exon2:c.G751C:p.G251R,ENSG00000164125:ENST00000393807:exon2:c.G751C:p.G251R,ENSG00000164125:ENST00000585682:exon2:c.G751C:p.G251R,ENSG00000164125:ENST00000592057:exon2:c.G751C:p.G251R NA NA 4q32.1 NA Name=TAF1,CTCF,Rad21,c-Myc,CTCF_(SC-5916) Name=34 NA NA NA NA NA 0.000199681 NA 0.001 NA NA NA NA NA NA NA 0.0001 NA 0.29 T 0.01 B 0.022 B 0.124 N 1.000 N 1.845 L 1.6 T -1.009 T 0.056 T 0.093 0.525 6.844 2.89 0.487 0.352 0.548 0.524885 NA 0.23 NA NA NA NA NA 11.3332334 2 1 1 10 135342118 135342118 C T exonic CYP2E1 NA nonsynonymous SNV CYP2E1:NM_000773:exon2:c.C311T:p.P104L exonic ENSG00000130649 NA nonsynonymous SNV ENSG00000130649:ENST00000252945:exon2:c.C311T:p.P104L,ENSG00000130649:ENST00000463117:exon4:c.C311T:p.P104L NA NA 10q26.3 Score=861;Name=V$NFKB_C NA Name=7 NA NA NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA 0.0002 NA 0.01 D 0.122 B 0.036 B 0.020 N 1.000 N 1.685 L -0.41 T -0.909 T 0.175 T 0.271 2.605 14.67 -0.662 -0.189 0.769 3.784 2.604515 2.604515 0 NA NA NA NA NA 11.3331334 7 1 1 12 50366997 50366997 T G exonic AQP6 NA nonsynonymous SNV AQP6:NM_001652:exon1:c.T41G:p.M14R exonic ENSG00000086159 NA nonsynonymous SNV ENSG00000086159:ENST00000315520:exon1:c.T41G:p.M14R NA NA 12q13.12 NA NA NA NA rs144813201 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 0.0002 0 D 0.003 B 0.001 B 0.297 N 0.977 N 1.355 L -2.16 D -0.607 T 0.473 T 0.174 1.221 9.954 -4.12 -0.913 -1.076 6.273 1.221033 NA 0 0.000233 0.000227 NA NA NA 11.3330004 1 1 1 11 102398322 102398322 C G exonic MMP7 NA nonsynonymous SNV MMP7:NM_002423:exon3:c.G417C:p.E139D exonic ENSG00000137673 NA nonsynonymous SNV ENSG00000137673:ENST00000260227:exon3:c.G417C:p.E139D Score=385;Name=lod=49 NA 11q22.2 NA NA NA NA rs141956671 0.0009 0.0009 NA 0.00219649 NA NA NA 0.0083 NA NA NA NA 0.0041 0.0004 0.0041 0.06 T 0.934 P 0.725 P 0.271 N 1.000 N 1.965 M 0.71 T -0.966 T 0.167 T 0.193 2.329 13.74 1.4 0.398 -1.476 5.537 2.328734 2.328734 0.43 0 0.001816 NA NA NA 11.3329334 3 1 1 14 31765138 31765138 T G exonic HEATR5A NA nonsynonymous SNV HEATR5A:NM_015473:exon34:c.A5596C:p.T1866P exonic ENSG00000129493 NA nonsynonymous SNV ENSG00000129493:ENST00000439727:exon28:c.A4717C:p.T1573P,ENSG00000129493:ENST00000439348:exon32:c.A5353C:p.T1785P,ENSG00000129493:ENST00000389961:exon33:c.A5578C:p.T1860P,ENSG00000129493:ENST00000543095:exon34:c.A5596C:p.T1866P Score=631;Name=lod=490 NA 14q12 NA NA Name=2 NA rs200160216 NA NA NA 0.000798722 NA NA 0.0058 NA NA NA NA NA NA 0.0004 NA 0.06 T 0.941 P 0.796 P 0.013 N 1.000 D 1.61 L -0.16 T -0.592 T 0.307 T 0.673 2.321 13.72 0.688 -0.108 0.367 10.246 2.320866 2.320866 0.02 NA NA NA NA NA 11.3329334 1 1 1 19 19675769 19675769 C T exonic PBX4 NA nonsynonymous SNV PBX4:NM_025245:exon6:c.G898A:p.A300T exonic ENSG00000105717 NA nonsynonymous SNV ENSG00000105717:ENST00000251203:exon6:c.G898A:p.A300T Score=343;Name=lod=33 NA 19p13.11 Score=967;Name=V$MYOD_Q6 NA NA NA rs116791423 NA NA NA 0.000599042 NA 0.002 NA NA 0.001 NA NA NA NA 0.0003 0.0005 0.6 T 0.003 B 0.001 B 0.015 N 0.817 D 1.005 L -2.69 D -0.708 T 0.435 T 0.051 0.832 8.355 -1.5 -0.431 0.405 4.164 0.831761 NA 0.79 0.000116 0.000454 NA NA NA 11.3329174 1 1 1 19 17321596 17321596 G A exonic MYO9B NA nonsynonymous SNV MYO9B:NM_001130065:exon38:c.G5869A:p.G1957S,MYO9B:NM_004145:exon38:c.G5869A:p.G1957S exonic ENSG00000099331 NA nonsynonymous SNV ENSG00000099331:ENST00000598419:exon4:c.G277A:p.G93S,ENSG00000099331:ENST00000597073:exon5:c.G388A:p.G130S,ENSG00000099331:ENST00000595641:exon36:c.G5821A:p.G1941S,ENSG00000099331:ENST00000397274:exon37:c.G5869A:p.G1957S,ENSG00000099331:ENST00000594824:exon38:c.G5869A:p.G1957S,ENSG00000099331:ENST00000595618:exon38:c.G5869A:p.G1957S NA NA 19p13.11 NA NA NA NA rs199522818 NA NA NA 0.000199681 NA NA NA 0.0008 NA NA NA NA NA 0.0003 0.0007 0.73 T 0.051 B 0.004 B 0.387 N 1.000 N 0.695 N -1.77 D -0.867 T 0.320 T 0.079 1.4 10.62 5.01 2.321 3.151 12.407 1.399974 1.399974 0.5 0.000118 0.000712 NA NA NA 11.3329154 9 1 1 14 62249083 62249083 C T exonic SNAPC1 NA nonsynonymous SNV SNAPC1:NM_003082:exon8:c.C944T:p.P315L exonic ENSG00000023608 NA nonsynonymous SNV ENSG00000023608:ENST00000216294:exon8:c.C944T:p.P315L Score=304;Name=lod=23 NA 14q23.2 NA NA NA NA rs140945950 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0006 0.0003 0.33 T 0.181 B 0.074 B 0.481 N 0.995 D 1.1 L . . -1.099 T 0.181 T 0.194 1.529 11.06 5.28 1.602 0.528 14.525 1.528943 1.528943 0.03 0.000349 0 NA NA NA 11.3323844 1 1 1 1 10068261 10068261 A G exonic RBP7 NA nonsynonymous SNV RBP7:NM_052960:exon3:c.A283G:p.T95A exonic ENSG00000162444 NA nonsynonymous SNV ENSG00000162444:ENST00000294435:exon3:c.A283G:p.T95A Score=558;Name=lod=246 NA 1p36.22 NA NA NA NA rs145618174 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0003 0.0005 0.03 D 0.042 B 0.031 B 0.012 N 0.658 N 1.65 L 3.13 T -1.093 T 0.021 T 0.204 2.279 13.58 2.99 0.656 4.396 6.305 2.278853 2.278853 0.03 0.000349 0.000454 NA NA NA 11.3316844 1 1 1 8 24774812 24774812 G A exonic NEFM NA nonsynonymous SNV NEFM:NM_001105541:exon3:c.G316A:p.V106I,NEFM:NM_005382:exon3:c.G1444A:p.V482I exonic ENSG00000104722 NA nonsynonymous SNV ENSG00000104722:ENST00000221166:exon3:c.G1444A:p.V482I,ENSG00000104722:ENST00000433454:exon3:c.G316A:p.V106I,ENSG00000104722:ENST00000437366:exon3:c.G1444A:p.V482I,ENSG00000104722:ENST00000518131:exon3:c.G1444A:p.V482I NA NA 8p21.2 NA NA NA NA rs61751047 NA NA NA 0.000998403 0.001 NA NA 0.003 NA NA NA NA NA 0.0006 0.0034 0.29 T 0.002 B 0.001 B 0.075 N 1.000 N 2.35 M -1.61 D -0.171 T 0.702 D 0.036 -0.907 0.424 1.68 0.499 1.785 6.416 -0.906998 NA 0.05 0.000465 0.003404 ID=COSM454338;OCCURENCE=1(breast) NA NA 11.3312684 3 2 2 11 18740269 18740269 G A exonic IGSF22 NA nonsynonymous SNV IGSF22:NM_173588:exon8:c.C703T:p.R235W exonic ENSG00000179057 NA nonsynonymous SNV ENSG00000179057:ENST00000319338:exon8:c.C703T:p.R235W,ENSG00000179057:ENST00000513874:exon8:c.C703T:p.R235W NA NA 11p15.1 NA NA NA NA rs201466035 NA NA 0 0.000599042 0.002 NA 0.0014 NA NA NA NA NA NA 0.0007 0.0009 0.03 D 0.999 D 0.96 D 0.073 U 1.000 N 1.965 M 0.61 T -0.918 T 0.191 T 0.424 2.987 15.96 -0.237 -0.329 0.141 3.840 2.987141 2.987141 0.06 0.000855 0 NA NA NA 11.3297784 5 1 1 2 37599896 37599896 A C exonic QPCT NA nonsynonymous SNV QPCT:NM_012413:exon7:c.A1012C:p.N338H exonic ENSG00000115828 NA nonsynonymous SNV ENSG00000115828:ENST00000444022:exon4:c.A307C:p.N103H,ENSG00000115828:ENST00000537448:exon6:c.A865C:p.N289H,ENSG00000115828:ENST00000338415:exon7:c.A1012C:p.N338H Score=577;Name=lod=295 NA 2p22.2 NA NA NA NA rs139934664 0.0014 0.0014 0.001 0.00119808 0.003 NA 0.0029 0.0008 NA 0.0026 NA NA 0.002 0.0014 0.0026 0.26 T 0.149 B 0.125 B 0.000 N 1.000 D 1.28 L 0.79 T -1.048 T 0.111 T 0.121 2.15 13.14 2.09 0.108 3.308 14.373 2.149554 2.149554 0.14 0.001279 0.000681 NA NA NA 11.3276544 2 1 1 1 111957583 111957583 A G exonic OVGP1 NA nonsynonymous SNV OVGP1:NM_002557:exon11:c.T1540C:p.Y514H exonic ENSG00000085465 NA nonsynonymous SNV ENSG00000085465:ENST00000369732:exon11:c.T1540C:p.Y514H NA NA 1p13.2 NA Name=RXRA,FOSL2 NA NA rs1126656 0.19 0.19 0.125 NA NA NA NA NA NA 0.22 0.13 0.19 0.22 0.0065 0.22 0.47 T 0.0 B 0.0 B . . 1.000 P -1.24 N 3.83 T -0.937 T 0.001 T 0.027 -0.615 1.263 -5.76 -3.042 -2.105 1.698 -0.615397 NA 0.11 NA NA NA 0.051 NA 11.3268334 7 1 1 22 38219570 38219570 C G exonic GALR3 NA nonsynonymous SNV GALR3:NM_003614:exon1:c.C157G:p.P53A exonic ENSG00000128310 NA nonsynonymous SNV ENSG00000128310:ENST00000249041:exon1:c.C157G:p.P53A Score=415;Name=lod=65 NA 22q13.1 NA NA NA NA rs78650836 0.0005 0.0005 NA 0.000998403 0.001 NA 0.0029 0.0008 0.001 NA NA 0.0028 NA 0.0037 0.006 0.61 T 0.12 B 0.023 B 0.001 N 0.986 N 0.595 N 1.23 T -1.053 T 0.031 T 0.323 1.644 11.45 4.24 2.885 2.077 6.697 1.643789 1.643789 0.76 0.006047 0.001135 NA NA NA 11.3225864 1 1 1 15 89169738 89169738 G A exonic AEN NA nonsynonymous SNV AEN:NM_022767:exon2:c.G298A:p.G100R exonic ENSG00000181026 NA nonsynonymous SNV ENSG00000181026:ENST00000332810:exon2:c.G298A:p.G100R,ENSG00000181026:ENST00000379231:exon2:c.G298A:p.G100R,ENSG00000181026:ENST00000559528:exon2:c.G298A:p.G100R NA NA 15q26.1 NA Name=Pol2 NA NA rs147477549 0.0032 0.0032 NA 0.00159744 0.006 NA 0.0014 0.0008 NA 0.01 NA 0.0028 0.002 0.0028 0.01 0.76 T 0.006 B 0.002 B 0.007 N 1.000 N -0.255 N 2.31 T -1.010 T 0.011 T 0.062 -0.57 1.433 -6.78 -1.137 -1.168 3.393 -0.569745 NA 0.48 0.003838 0.000455 NA NA NA 11.3206954 2 1 1 2 220097286 220097286 G A exonic ANKZF1 NA nonsynonymous SNV ANKZF1:NM_001042410:exon5:c.G439A:p.E147K,ANKZF1:NM_018089:exon5:c.G439A:p.E147K exonic ENSG00000163516 NA nonsynonymous SNV ENSG00000163516:ENST00000453432:exon4:c.G244A:p.E82K,ENSG00000163516:ENST00000323348:exon5:c.G439A:p.E147K,ENSG00000163516:ENST00000410034:exon5:c.G439A:p.E147K NA NA 2q35 NA NA NA NA rs200506719 0.0018 0.0018 NA 0.00199681 0.004 NA NA NA 0.0061 0.004 NA 0.0028 NA 0.0066 0.011 0.79 T 0.176 B 0.037 B 0.120 N 1.000 N 2.125 M 1.76 T -1.009 T 0.042 T 0.469 1.857 12.17 4.66 1.576 2.407 10.022 1.856758 1.856758 0.04 0.006072 0.002347 NA 0.007 NA 11.3166614 3 2 2 19 5772823 5772823 G C exonic CATSPERD NA nonsynonymous SNV CATSPERD:NM_152784:exon20:c.G1788C:p.E596D exonic ENSG00000174898 NA nonsynonymous SNV ENSG00000174898:ENST00000381624:exon20:c.G1788C:p.E596D NA NA 19p13.3 NA NA NA NA rs143660393 0.0032 0.0032 0.004 0.00239617 0.008 NA 0.0043 NA 0.001 0.01 NA 0.01 NA 0.0042 0.01 0.01 D 1.0 D 0.996 D 0.307 N 1.000 N 2.045 M 1.67 T -1.055 T 0.106 T 0.392 2.591 14.63 1.95 0.803 0.810 5.300 2.591332 2.591332 0.01 0.00531 0.00141 NA 0.036 NA 11.3158234 4 1 1 17 34190069 34190069 C A exonic C17orf66 NA nonsynonymous SNV C17orf66:NM_152781:exon8:c.G686T:p.G229V exonic ENSG00000172653 NA nonsynonymous SNV ENSG00000172653:ENST00000311880:exon8:c.G686T:p.G229V,ENSG00000172653:ENST00000585840:exon8:c.G686T:p.G229V,ENSG00000172653:ENST00000592980:exon8:c.G566T:p.G189V,ENSG00000172653:ENST00000587573:exon9:c.G464T:p.G155V,ENSG00000172653:ENST00000589015:exon9:c.G584T:p.G195V NA NA 17q12 Score=822;Name=V$HNF4_01_B NA NA NA rs115641363 0.0032 0.0032 0 0.00279553 0.0099 NA 0.0029 NA 0.002 0.01 NA NA NA 0.0048 0.011 0.54 T 0.386 B 0.232 B 0.382 N 1.000 N 0.805 L 0.82 T -1.056 T 0.052 T 0.171 0.701 7.741 -5.35 -1.235 -1.167 2.722 0.701267 NA 0.17 0.006163 0.001589 NA 0.007 NA 11.3124704 1 1 1 2 121726366 121726366 C T exonic GLI2 NA synonymous SNV GLI2:NM_005270:exon5:c.C720T:p.D240D exonic ENSG00000074047 NA nonsynonymous SNV ENSG00000074047:ENST00000360874:exon3:c.C307T:p.R103C Score=457;Name=lod=96 NA 2q14.2 NA NA NA NA rs142793481 0.01 0.01 0.001 0.00359425 0.0089 0.002 0.0014 NA 0.0061 0.01 0.0035 0.01 NA 0.0073 0.01 0 D 0.008 B 0.002 B . . 1.000 D . . . . -0.994 T 0.122 T . 4.124 21.3 -4.85 -0.744 -0.851 14.435 4.124312 4.124312 0 0.005465 0.001589 NA NA NA 10.978335 7 1 1 13 98829175 98829175 C G exonic RNF113B NA nonsynonymous SNV RNF113B:NM_178861:exon1:c.G316C:p.E106Q exonic ENSG00000139797 NA nonsynonymous SNV ENSG00000139797:ENST00000267291:exon1:c.G316C:p.E106Q Score=702;Name=lod=953 NA 13q32.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.71 T 0.804 P 0.446 B 0.002 U 1.000 N 1.045 L 1.49 T -1.027 T 0.050 T 0.074 2.047 12.8 1.16 0.936 4.951 8.184 2.046654 2.046654 0.65 NA NA NA NA NA 10.8333334 1 1 1 7 142637601 142637601 T C exonic C7orf34 NA nonsynonymous SNV C7orf34:NM_178829:exon2:c.T371C:p.V124A exonic ENSG00000165131 NA nonsynonymous SNV ENSG00000165131:ENST00000409607:exon2:c.T371C:p.V124A NA NA 7q34 NA NA NA NA rs148010864 0.0009 0.0009 NA 0.000798722 NA NA 0.0029 0.0015 NA NA NA 0.0028 0.002 0.0005 0.0028 0.01 D 0.597 P 0.199 B 0.003 N 1.000 N 0.69 N . . -1.054 T 0.053 T 0.503 1.655 11.49 3.33 0.846 2.330 7.163 1.65483 1.65483 0.03 0.000698 0.000227 NA NA NA 10.8321354 1 1 1 2 73315604 73315604 C T exonic RAB11FIP5 NA nonsynonymous SNV RAB11FIP5:NM_015470:exon3:c.G1142A:p.R381H exonic ENSG00000135631 NA nonsynonymous SNV ENSG00000135631:ENST00000258098:exon3:c.G1142A:p.R381H NA NA 2p13.2 NA NA NA NA rs199517071 0.0009 0.0009 NA 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA 0.00008307 0.0026 0.34 T 0.998 D 0.747 P 0.258 N 1.000 N 1.61 L 0.91 T -1.032 T 0.126 T 0.351 2.298 13.64 3.28 1.074 0.087 5.835 2.298396 2.298396 0.58 NA NA NA NA NA 10.8312503 1 1 1 12 121593936 121593936 C T exonic P2RX7 NA nonsynonymous SNV P2RX7:NM_002562:exon3:c.C349T:p.R117W exonic ENSG00000089041 NA nonsynonymous SNV ENSG00000089041:ENST00000261826:exon3:c.C349T:p.R117W,ENSG00000089041:ENST00000377162:exon3:c.C349T:p.R117W,ENSG00000089041:ENST00000535600:exon3:c.C349T:p.R117W,ENSG00000089041:ENST00000541022:exon3:c.C349T:p.R117W,ENSG00000089041:ENST00000541564:exon3:c.C349T:p.R117W,ENSG00000089041:ENST00000541716:exon3:c.C349T:p.R117W,ENSG00000089041:ENST00000546057:exon3:c.C349T:p.R117W,ENSG00000089041:ENST00000535250:exon4:c.C79T:p.R27W NA NA 12q24.31 NA NA Name=3 NA rs28360445 0.0018 0.0018 NA 0.000998403 0.002 NA 0.0043 NA NA 0.0013 NA 0.01 NA 0.0013 0.01 0 D 0.976 D 0.657 P 0.544 N 1.000 N 0 N 3.64 T -0.944 T 0.008 T 0.426 1.1 9.489 -1.17 -0.427 -0.106 5.973 1.100292 NA 0 0.001977 0.000454 NA NA NA 10.8280564 9 1 1 5 171765882 171765882 C T exonic SH3PXD2B NA nonsynonymous SNV SH3PXD2B:NM_001017995:exon13:c.G2227A:p.V743M exonic ENSG00000174705 NA nonsynonymous SNV ENSG00000174705:ENST00000311601:exon13:c.G2227A:p.V743M NA NA 5q35.1 Score=714;Name=V$P53_01 NA NA NA rs141103005 0.0009 0.0009 NA 0.00239617 0.003 NA NA NA 0.0092 0.0026 NA NA NA 0.0013 0.0026 . . 0.53 P 0.059 B 0.052 N 1.000 N 0.695 N 0.13 T -1.055 T 0.083 T 0.026 -0.597 1.33 -4.75 -0.916 1.183 1.810 -0.59705 NA 0.06 0.001279 0.000454 NA 0.043 NA 10.8277544 4 2 1 19 5783515 5783515 G A exonic PRR22 NA nonsynonymous SNV PRR22:NM_001134316:exon3:c.C743T:p.P248L exonic ENSG00000212123 NA nonsynonymous SNV ENSG00000212123:ENST00000419421:exon3:c.C743T:p.P248L NA NA 19p13.3 NA Name=Pol2,Pol2-4H8 NA NA rs34572934 0.0014 0.0014 0.002 0.000998403 0.003 NA 0.0029 NA NA 0.0026 NA 0.0028 NA 0.0016 0.0028 0.17 T 0.999 D 0.889 P . . 1.000 N 0.975 L -0.04 T -0.890 T 0.246 T 0.213 2.499 14.32 2.36 0.717 0.436 7.774 2.4991 2.4991 0.02 0.002461 0.002537 NA 0.036 NA 10.8262724 2 1 1 2 71360431 71360431 G A exonic MPHOSPH10 NA nonsynonymous SNV MPHOSPH10:NM_005791:exon2:c.G493A:p.V165I exonic ENSG00000124383 NA nonsynonymous SNV ENSG00000124383:ENST00000244230:exon2:c.G493A:p.V165I,ENSG00000124383:ENST00000498451:exon2:c.G493A:p.V165I NA NA 2p13.3 NA NA NA NA rs150757204 0.0009 0.0009 NA 0.000998403 0.003 NA 0.0029 NA NA 0.0013 NA 0.0028 NA 0.0017 0.0031 0.18 T 0.753 P 0.195 B 0.622 N 1.000 N 1.355 L 2.93 T -1.042 T 0.028 T 0.017 1.763 11.85 4.16 2.528 1.821 10.848 1.762625 1.762625 0.27 0.00314 0.000227 NA NA NA 10.8254934 2 1 1 1 156641746 156641746 C G exonic NES NA nonsynonymous SNV NES:NM_006617:exon4:c.G2234C:p.R745T exonic ENSG00000132688 NA nonsynonymous SNV ENSG00000132688:ENST00000368223:exon4:c.G2234C:p.R745T NA NA 1q23.1 NA NA NA NA rs140652000 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0032 0.0041 0 D 0.915 P 0.321 B . . 1.000 N 1.525 L -2.27 D -0.647 T 0.294 T 0.094 2.044 12.79 -3.54 -0.414 -0.784 7.417 2.043651 2.043651 0 0.00407 0 NA NA NA 10.8250634 4 1 1 15 64970496 64970496 C T exonic ZNF609 NA nonsynonymous SNV ZNF609:NM_015042:exon5:c.C3584T:p.T1195M exonic ENSG00000180357 NA nonsynonymous SNV ENSG00000180357:ENST00000326648:exon5:c.C3584T:p.T1195M NA NA 15q22.31 NA NA NA NA rs146522359 0.0009 0.0009 NA 0.00139776 0.004 NA 0.0029 0.0008 NA 0.0026 NA NA NA 0.0022 0.011 0.08 T 0.567 P 0.092 B 0.311 N 1.000 N 0.345 N 0.94 T -1.039 T 0.062 T 0.108 1.999 12.64 5.62 2.640 2.921 12.937 1.999185 1.999185 0.02 0.004652 0.001362 NA 0.007 NA 10.8224814 5 1 1 3 47452676 47452676 G A exonic PTPN23 NA nonsynonymous SNV PTPN23:NM_015466:exon20:c.G3388A:p.G1130S exonic ENSG00000076201 NA nonsynonymous SNV ENSG00000076201:ENST00000431726:exon19:c.G3010A:p.G1004S,ENSG00000076201:ENST00000265562:exon20:c.G3388A:p.G1130S NA NA 3p21.31 Score=866;Name=V$YY1_01 NA NA NA rs138329311 0.01 0.01 0.005 0.00359425 0.0099 NA 0.0086 0.0008 0.001 0.01 NA 0.01 0.002 0.0078 0.01 0.54 T 0.909 P 0.128 B 0.000 N 1.000 N 0.345 N 3.92 T -0.855 T 0.004 T 0.193 1.034 9.224 2.36 0.611 2.827 8.304 1.03403 NA 0.47 0.009848 0.00117 NA NA NA 10.8057854 2 1 1 20 42089613 42089613 G A exonic SRSF6 NA synonymous SNV SRSF6:NM_006275:exon6:c.G945A:p.V315V exonic ENSG00000124193 NA synonymous SNV ENSG00000124193:ENST00000244020:exon6:c.G945A:p.V315V Score=536;Name=lod=201 NA 20q13.11 Score=879;Name=V$MAZR_01 Name=Pol2-4H8,HEY1 Name=6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.305371 NA NA NA NA NA NA NA 10.6665666 1 1 1 19 9006663 9006663 C T exonic MUC16 NA synonymous SNV MUC16:NM_024690:exon44:c.G39585A:p.T13195T exonic ENSG00000181143 NA synonymous SNV ENSG00000181143:ENST00000397910:exon44:c.G39585A:p.T13195T NA NA 19p13.2 Score=748;Name=V$NRSF_01 NA NA NA rs376322394 NA NA NA 0.000998403 NA 0.001 NA 0.0023 0.001 NA NA NA NA 0.0004 0.0005 . . . . . . . . . . . . . . -1.037 T 0.059 T . -0.582 1.387 -5.98 -5.897 -11.109 4.038 -0.581746 NA NA 0 0.000502 NA NA NA 10.6662666 70 3 1 2 182783550 182783550 A G exonic SSFA2 NA synonymous SNV SSFA2:NM_001130445:exon13:c.A2934G:p.L978L,SSFA2:NM_006751:exon13:c.A2934G:p.L978L exonic ENSG00000138434 NA synonymous SNV ENSG00000138434:ENST00000409136:exon5:c.A1461G:p.L487L,ENSG00000138434:ENST00000428267:exon12:c.A2475G:p.L825L,ENSG00000138434:ENST00000320370:exon13:c.A2934G:p.L978L,ENSG00000138434:ENST00000409001:exon13:c.A2934G:p.L978L,ENSG00000138434:ENST00000431877:exon13:c.A2934G:p.L978L Score=625;Name=lod=462 NA 2q31.3 NA Name=MafK_(ab50322) NA NA rs78894663 0.0027 0.0027 0.003 0.00579073 0.001 NA 0.0029 0.0197 NA NA NA 0.0028 0.01 0.0025 0.027 . . . . . . . . 1.000 D . . . . -0.998 T 0.087 T . 1.205 9.892 2.52 0.205 0.624 9.081 1.204576 NA NA 0.000116 0.026782 NA NA NA 10.6630506 6 2 2 5 102343291 102343291 C A exonic PAM NA synonymous SNV PAM:NM_138821:exon18:c.C1824A:p.T608T,PAM:NM_000919:exon19:c.C2145A:p.T715T,PAM:NM_001177306:exon19:c.C2145A:p.T715T,PAM:NM_138766:exon19:c.C2145A:p.T715T,PAM:NM_138822:exon19:c.C2145A:p.T715T exonic ENSG00000145730 NA synonymous SNV ENSG00000145730:ENST00000274392:exon18:c.C1854A:p.T618T,ENSG00000145730:ENST00000348126:exon18:c.C1824A:p.T608T,ENSG00000145730:ENST00000304400:exon19:c.C2145A:p.T715T,ENSG00000145730:ENST00000346918:exon19:c.C2145A:p.T715T,ENSG00000145730:ENST00000379787:exon19:c.C285A:p.T95T,ENSG00000145730:ENST00000438793:exon19:c.C2145A:p.T715T,ENSG00000145730:ENST00000455264:exon19:c.C2145A:p.T715T Score=599;Name=lod=364 NA 5q21.1 Score=861;Name=V$IRF1_01 NA NA NA rs34746026 0.0009 0.0009 NA 0.00559105 0.003 NA 0.0014 NA 0.0245 0.0026 NA NA NA 0.005 0.011 . . . . . . . . 1.000 D . . . . -0.979 T 0.124 T . 0.911 8.706 3.35 0.720 0.328 0.892 0.910841 NA NA 0.004419 0.000908 NA 0.007 NA 10.6542476 1 1 1 3 167248948 167248948 T C exonic WDR49 NA nonsynonymous SNV WDR49:NM_178824:exon9:c.A1117G:p.M373V exonic ENSG00000174776 NA nonsynonymous SNV ENSG00000174776:ENST00000476376:exon7:c.A592G:p.M198V,ENSG00000174776:ENST00000308378:exon9:c.A1117G:p.M373V,ENSG00000174776:ENST00000453925:exon9:c.A1309G:p.M437V Score=431;Name=lod=75 NA 3q26.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.43 T 0.008 B 0.001 B 0.081 N 1.000 N 0.925 L 1.63 T -1.032 T 0.066 T 0.248 -0.546 1.524 3.15 0.398 0.888 7.950 -0.546232 NA 0.12 NA NA NA NA NA 10.3333334 2 1 1 4 169393005 169393005 C T exonic DDX60L NA nonsynonymous SNV DDX60L:NM_001012967:exon4:c.G157A:p.V53I exonic ENSG00000181381 NA nonsynonymous SNV ENSG00000181381:ENST00000260184:exon4:c.G157A:p.V53I,ENSG00000181381:ENST00000505696:exon4:c.G157A:p.V53I,ENSG00000181381:ENST00000505890:exon4:c.G157A:p.V53I,ENSG00000181381:ENST00000511577:exon4:c.G157A:p.V53I,ENSG00000181381:ENST00000512371:exon4:c.G157A:p.V53I,ENSG00000181381:ENST00000514748:exon5:c.G157A:p.V53I NA NA 4q32.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.07 T 0.341 B 0.124 B 0.643 U 1.000 N 1.1 L 2.3 T -1.024 T 0.035 T 0.187 2.264 13.53 2.31 0.176 4.759 9.113 2.264016 2.264016 0.02 NA NA NA NA NA 10.3333334 5 1 1 6 126210903 126210903 G T exonic NCOA7 NA nonsynonymous SNV NCOA7:NM_001199621:exon8:c.G1358T:p.G453V,NCOA7:NM_001122842:exon9:c.G1670T:p.G557V,NCOA7:NM_181782:exon9:c.G1703T:p.G568V,NCOA7:NM_001199619:exon10:c.G1703T:p.G568V,NCOA7:NM_001199620:exon11:c.G1703T:p.G568V exonic ENSG00000111912 NA nonsynonymous SNV ENSG00000111912:ENST00000413085:exon3:c.G1097T:p.G366V,ENSG00000111912:ENST00000229634:exon8:c.G1358T:p.G453V,ENSG00000111912:ENST00000392477:exon9:c.G1703T:p.G568V,ENSG00000111912:ENST00000368357:exon10:c.G1703T:p.G568V NA NA 6q22.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.23 T 0.1 B 0.054 B 0.283 N 1.000 N 0.805 L 1.46 T -1.028 T 0.018 T 0.428 -0.697 0.983 2.66 1.434 0.677 4.318 -0.696532 NA 0 NA NA NA NA NA 10.3333334 2 1 1 8 30706055 30706055 G C exonic TEX15 NA nonsynonymous SNV TEX15:NM_031271:exon1:c.C479G:p.S160C exonic ENSG00000133863 NA nonsynonymous SNV ENSG00000133863:ENST00000256246:exon1:c.C479G:p.S160C NA NA 8p12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 D 0.004 B 0.006 B 0.082 N 1.000 N -0.11 N 2.82 T -1.004 T 0.010 T 0.1 1.374 10.52 -3.57 -0.583 -0.485 0.367 1.374262 1.374262 0.18 NA NA NA NA NA 10.3333334 1 1 1 1 235602095 235602095 G C exonic TBCE NA nonsynonymous SNV TBCE:NM_001079515:exon13:c.G1128C:p.E376D,TBCE:NM_003193:exon13:c.G1128C:p.E376D exonic ENSG00000116957 NA nonsynonymous SNV ENSG00000116957:ENST00000366601:exon13:c.G1128C:p.E376D,ENSG00000116957:ENST00000406207:exon13:c.G1128C:p.E376D,ENSG00000116957:ENST00000543662:exon14:c.G1281C:p.E427D Score=389;Name=lod=51 NA 1q42.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008239 NA 0.62 T 0.001 B 0.003 B 0.024 N 0.720 N 1.24 L 1.93 T -1.028 T 0.040 T 0.16 0.322 5.748 2.56 0.906 -0.018 7.561 0.322375 NA 0.47 NA NA NA NA NA 10.3333252 1 1 1 8 145112442 145112442 G A exonic OPLAH NA nonsynonymous SNV OPLAH:NM_017570:exon10:c.C1331T:p.P444L exonic ENSG00000178814 NA nonsynonymous SNV ENSG00000178814:ENST00000426825:exon10:c.C1331T:p.P444L NA NA 8q24.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000039 NA 0.27 T 0.009 B 0.007 B 0.101 N 0.980 N . . . . -0.900 T 0.106 T 0.245 2.496 14.3 3.2 2.025 -0.012 12.217 2.495536 2.495536 0.28 NA NA NA NA NA 10.3332944 4 1 1 15 56385886 56385886 T C exonic RFX7 NA nonsynonymous SNV RFX7:NM_022841:exon9:c.A4040G:p.N1347S exonic ENSG00000181827 NA nonsynonymous SNV ENSG00000181827:ENST00000559847:exon7:c.A3749G:p.N1250S,ENSG00000181827:ENST00000317318:exon9:c.A4040G:p.N1347S,ENSG00000181827:ENST00000422057:exon9:c.A3749G:p.N1250S,ENSG00000181827:ENST00000423270:exon9:c.A4040G:p.N1347S,ENSG00000181827:ENST00000559447:exon9:c.A3749G:p.N1250S Score=696;Name=lod=901 NA 15q21.3 NA NA NA NA rs375177046 NA NA NA 0.000199681 NA NA NA 0.0008 NA NA NA NA NA 0.00009958 0.0003 0.75 T 0.0 B 0.0 B 0.031 N 0.507 N -0.55 N 0.77 T -1.018 T 0.039 T 0.044 -1.133 0.115 -8.18 -1.633 -0.341 16.183 -1.132757 NA 0.82 0 0.000262 NA NA NA 10.3332338 1 1 1 1 175049305 175049305 C A exonic TNN NA nonsynonymous SNV TNN:NM_022093:exon4:c.C791A:p.T264N exonic ENSG00000120332 NA nonsynonymous SNV ENSG00000120332:ENST00000239462:exon4:c.C791A:p.T264N NA NA 1q25.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 NA 0.09 T 0.04 B 0.063 B 0.306 N 1.000 N 0.6 N 3.97 T -0.954 T 0.011 T 0.044 2.004 12.66 3.7 0.704 1.392 12.292 2.004075 2.004075 0.03 NA NA NA NA NA 10.3332334 11 1 1 19 11486643 11486643 C G exonic SWSAP1 NA nonsynonymous SNV SWSAP1:NM_175871:exon2:c.C641G:p.A214G exonic ENSG00000173928 NA nonsynonymous SNV ENSG00000173928:ENST00000312423:exon2:c.C641G:p.A214G NA NA 19p13.2 NA Name=Pol2 NA NA rs150033461 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 NA 0.12 T 0.164 B 0.027 B 0.527 N 1.000 N 0.895 L 0.86 T -1.034 T 0.076 T 0.062 2.15 13.15 2.86 1.051 0.002 3.343 2.150013 2.150013 0.05 NA NA NA NA NA 10.3331334 1 1 1 10 126715565 126715565 C T exonic CTBP2 NA nonsynonymous SNV CTBP2:NM_022802:exon1:c.G764A:p.R255H exonic ENSG00000175029 NA nonsynonymous SNV ENSG00000175029:ENST00000309035:exon1:c.G764A:p.R255H NA NA 10q26.13 NA NA NA NA rs143281706 NA NA NA 0.000199681 NA NA NA NA 0.001 NA NA NA NA 0.00009146 0.0001 0 D 0.957 D 0.312 B 0.491 N 1.000 N . . -1.7 D -0.635 T 0.336 T 0.219 1.344 10.42 1.45 0.204 0.040 2.657 1.343945 1.343945 0 0.000116 0 NA NA NA 10.3331259 4 1 1 20 744428 744428 G A exonic SLC52A3 NA nonsynonymous SNV SLC52A3:NM_033409:exon3:c.C787T:p.H263Y exonic ENSG00000101276 NA nonsynonymous SNV ENSG00000101276:ENST00000217254:exon3:c.C787T:p.H263Y,ENSG00000101276:ENST00000381944:exon3:c.C787T:p.H263Y Score=333;Name=lod=30 NA 20p13 Score=847;Name=V$ER_Q6 NA NA NA rs150159842 NA NA NA 0.000998403 NA NA 0.0072 NA NA NA NA NA NA 0.0002 0.0002 0.05 D 0.003 B 0.003 B 0.875 N 1.000 N 1.39 L -0.59 T -0.884 T 0.211 T 0.038 1.788 11.94 -0.151 0.077 0.503 4.446 1.788492 1.788492 0.04 0.000116 0.000227 NA NA NA 10.3330174 1 1 1 22 50298100 50298100 G C exonic ALG12 NA nonsynonymous SNV ALG12:NM_024105:exon8:c.C1047G:p.I349M exonic ENSG00000182858 NA nonsynonymous SNV ENSG00000182858:ENST00000330817:exon8:c.C1047G:p.I349M NA NA 22q13.33 NA NA NA NA rs182006999 NA NA NA 0.000399361 NA NA NA NA 0.002 NA NA NA NA 0.0003 0.0001 0.12 T 0.26 B 0.207 B 0.400 N 1.000 N 1.33 L -0.07 T -1.077 T 0.061 T 0.235 -0.482 1.783 -9.54 -4.196 -4.606 1.528 -0.481512 NA 0.04 0.000116 0 NA NA NA 10.3329174 11 1 1 9 125673569 125673569 C G exonic ZBTB6 NA nonsynonymous SNV ZBTB6:NM_006626:exon2:c.G783C:p.E261D exonic ENSG00000186130 NA nonsynonymous SNV ENSG00000186130:ENST00000373659:exon2:c.G783C:p.E261D Score=608;Name=lod=394 NA 9q33.2 NA NA NA NA rs143894946 0.0005 0.0005 NA 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA 0.0002 0.0028 0.23 T 0.048 B 0.027 B 0.000 D 0.981 D 1.645 L 2.95 T -1.040 T 0.024 T 0.716 1.612 11.35 -0.222 -0.008 0.800 10.387 1.612424 1.612424 0.07 0.000233 0 NA NA NA 10.3329004 1 1 1 10 101639648 101639648 C T exonic DNMBP NA nonsynonymous SNV DNMBP:NM_015221:exon16:c.G4468A:p.V1490I exonic ENSG00000107554 NA nonsynonymous SNV ENSG00000107554:ENST00000540316:exon8:c.G1276A:p.V426I,ENSG00000107554:ENST00000543621:exon13:c.G2206A:p.V736I,ENSG00000107554:ENST00000324109:exon16:c.G4468A:p.V1490I,ENSG00000107554:ENST00000342239:exon16:c.G4540A:p.V1514I NA NA 10q24.2 NA NA NA NA rs199968530 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0003 0.0003 0.48 T 0.001 B 0.001 B 0.184 N 1.000 N 0.345 N 2.8 T -1.071 T 0.038 T 0.058 1.458 10.82 -9.7 -1.438 -5.963 5.072 1.458087 1.458087 0.68 0.000349 0 NA NA NA 10.3326844 6 1 1 19 39915896 39915896 A G exonic PLEKHG2 NA nonsynonymous SNV PLEKHG2:NM_022835:exon19:c.A4123G:p.R1375G exonic ENSG00000090924 NA nonsynonymous SNV ENSG00000090924:ENST00000600210:exon3:c.A274G:p.R92G,ENSG00000090924:ENST00000596443:exon5:c.A310G:p.R104G,ENSG00000090924:ENST00000425673:exon17:c.A4036G:p.R1346G,ENSG00000090924:ENST00000378550:exon18:c.A1696G:p.R566G,ENSG00000090924:ENST00000409797:exon18:c.A1696G:p.R566G,ENSG00000090924:ENST00000409794:exon19:c.A4123G:p.R1375G Score=333;Name=lod=30 NA 19q13.2 Score=846;Name=V$NFKB_C Name=Pol2 NA NA rs199999525 NA NA NA 0.000798722 NA NA 0.0058 NA NA NA NA NA NA 0.0003 0.0004 . . 0.005 B 0.011 B 0.083 N 0.977 N 1.185 L -0.56 T -0.982 T 0.183 T 0.448 1.914 12.36 1.57 0.265 0.641 6.420 1.913548 1.913548 0.13 0.000356 0 NA NA NA 10.3326774 6 2 1 11 57886441 57886441 C T exonic OR9I1 NA nonsynonymous SNV OR9I1:NM_001005211:exon1:c.G476A:p.R159H exonic ENSG00000172377 NA nonsynonymous SNV ENSG00000172377:ENST00000302610:exon1:c.G476A:p.R159H NA NA 11q12.1 NA NA NA NA rs139300657 0.0005 0.0005 NA 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA 0.0003 0.0028 1 T 0.429 B 0.099 B 0.000 D 1.000 N -0.915 N 9.1 T -1.099 T 0.000 T 0.147 -0.802 0.672 4.03 1.433 0.034 7.138 -0.801673 NA 0.71 0.000582 0.000227 ID=COSM415544;OCCURENCE=1(urinary_tract) NA NA 10.3324514 2 1 1 6 24843131 24843131 C T exonic FAM65B NA nonsynonymous SNV FAM65B:NM_015864:exon13:c.G1729A:p.D577N,FAM65B:NM_014722:exon14:c.G1879A:p.D627N exonic ENSG00000111913 NA nonsynonymous SNV ENSG00000111913:ENST00000378023:exon13:c.G1729A:p.D577N,ENSG00000111913:ENST00000510784:exon13:c.G1831A:p.D611N,ENSG00000111913:ENST00000538035:exon13:c.G1816A:p.D606N,ENSG00000111913:ENST00000540914:exon13:c.G1729A:p.D577N,ENSG00000111913:ENST00000259698:exon14:c.G1879A:p.D627N Score=516;Name=lod=166 NA 6p22.3 NA NA NA NA rs201962345 0.0005 0.0005 NA 0.000199681 NA NA 0.0014 NA NA NA NA 0.0028 NA 0.0003 0.0028 0.41 T 0.069 B 0.039 B 0.035 N 0.999 D 1.24 L 1.32 T -1.087 T 0.029 T 0.036 2.801 15.33 1.96 0.607 2.841 9.142 2.801008 2.801008 0.01 0.000732 0 NA NA NA 10.3323014 4 1 1 15 43568715 43568715 T C exonic TGM7 NA nonsynonymous SNV TGM7:NM_052955:exon13:c.A2071G:p.N691D exonic ENSG00000159495 NA nonsynonymous SNV ENSG00000159495:ENST00000452443:exon13:c.A2071G:p.N691D Score=507;Name=lod=154 NA 15q15.2 NA NA NA NA rs148274809 0.0009 0.0009 0.001 0.000599042 0.001 NA 0.0014 NA 0.001 0.0013 NA 0.0028 NA 0.0018 0.011 1 T 0.003 B 0.007 B 0.336 N 0.951 N 0.915 L -0.19 T -0.993 T 0.122 T 0.097 2.343 13.79 3.3 0.647 1.305 8.539 2.343238 2.343238 0.54 0.001861 0.000227 NA 0.007 NA 10.3286724 1 1 1 12 123187313 123187313 C G exonic HCAR2 NA nonsynonymous SNV HCAR2:NM_177551:exon1:c.G518C:p.G173A exonic ENSG00000182782 NA nonsynonymous SNV ENSG00000182782:ENST00000328880:exon1:c.G518C:p.G173A NA NA 12q24.31 Score=815;Name=V$CDPCR3_01 NA NA NA rs144376493 NA NA NA 0.00119808 0.005 NA 0.0014 NA NA NA NA NA NA 0.0018 NA 0.3 T 0.008 B 0.016 B 0.324 N 1.000 N 1.15 L 1.06 T -1.047 T 0.078 T 0.109 -0.45 1.915 -9.83 -2.003 -0.136 14.223 -0.449758 NA 0.61 NA NA NA NA NA 10.3265334 3 3 2 12 123187314 123187314 C T exonic HCAR2 NA nonsynonymous SNV HCAR2:NM_177551:exon1:c.G517A:p.G173S exonic ENSG00000182782 NA nonsynonymous SNV ENSG00000182782:ENST00000328880:exon1:c.G517A:p.G173S NA NA 12q24.31 Score=815;Name=V$CDPCR3_01 NA NA NA rs141052038 NA NA NA 0.00119808 0.005 NA 0.0014 NA NA NA NA NA NA 0.0019 NA 0.26 T 0.005 B 0.004 B 0.324 N 1.000 N 0.645 N 1.07 T -1.063 T 0.047 T 0.14 -0.363 2.29 -10.5 -2.694 -1.276 1.363 -0.362698 NA 0.6 NA NA NA NA NA 10.3264334 3 3 2 2 130931095 130931095 G A exonic SMPD4 NA synonymous SNV SMPD4:NM_017751:exon4:c.C378T:p.L126L,SMPD4:NM_017951:exon4:c.C378T:p.L126L exonic ENSG00000136699 NA stopgain ENSG00000136699:ENST00000339679:exon4:c.C115T:p.R39X Score=448;Name=lod=88 NA 2q21.1 NA NA NA NA rs145230616 0.0032 0.0032 0.004 0.00638978 0.004 NA 0.0043 0.0038 0.0204 0.004 NA 0.01 0.0041 0.004 0.011 0.92 T . . . . . . 1.000 D . . . . . . . . . 4.102 21.1 -4.12 -0.677 0.362 1.129 4.102182 4.102182 1 0.001163 0.00227 NA 0.007 NA 10.3241703 5 1 1 3 39307832 39307832 T C exonic CX3CR1 NA nonsynonymous SNV CX3CR1:NM_001171171:exon2:c.A169G:p.T57A,CX3CR1:NM_001171172:exon2:c.A169G:p.T57A,CX3CR1:NM_001171174:exon2:c.A265G:p.T89A,CX3CR1:NM_001337:exon2:c.A169G:p.T57A exonic ENSG00000168329 NA nonsynonymous SNV ENSG00000168329:ENST00000358309:exon2:c.A265G:p.T89A,ENSG00000168329:ENST00000399220:exon2:c.A169G:p.T57A,ENSG00000168329:ENST00000412814:exon2:c.A169G:p.T57A,ENSG00000168329:ENST00000435290:exon2:c.A169G:p.T57A,ENSG00000168329:ENST00000541347:exon2:c.A169G:p.T57A,ENSG00000168329:ENST00000542107:exon2:c.A169G:p.T57A NA NA 3p22.2 Score=790;Name=V$CMYB_01 NA NA NA rs199811198 NA NA NA 0.000798722 0.003 NA NA NA 0.001 NA NA NA NA 0.0029 0.0041 0 D 0.166 B 0.096 B 0.204 N 1.000 N 0.41 N 1.22 T -1.029 T 0.054 T 0.205 1.992 12.62 4.23 0.897 -0.084 6.122 1.991676 1.991676 0.1 0.004063 0.000248 NA NA NA 10.3233704 3 1 1 4 70146423 70146423 G A exonic UGT2B28 NA nonsynonymous SNV UGT2B28:NM_001207004:exon1:c.G205A:p.A69T,UGT2B28:NM_053039:exon1:c.G205A:p.A69T exonic ENSG00000135226 NA nonsynonymous SNV ENSG00000135226:ENST00000335568:exon1:c.G205A:p.A69T,ENSG00000135226:ENST00000511240:exon1:c.G205A:p.A69T NA NA 4q13.2 NA NA NA NA rs150261084 0.0023 0.0023 0.002 0.00139776 0.002 NA 0.0058 0.0008 NA 0.0026 NA 0.01 NA 0.0032 0.01 0.62 T 0.24 B 0.102 B 0.190 U 1.000 N -0.345 N 0.06 T -1.041 T 0.045 T 0.029 -2.019 0.006 -4.36 -4.831 -7.778 1.429 -2.019228 NA 0.53 0.005432 0.001719 NA NA NA 10.3227014 7 1 1 11 68747507 68747507 T G exonic MRGPRD NA nonsynonymous SNV MRGPRD:NM_198923:exon1:c.A949C:p.N317H exonic ENSG00000172938 NA nonsynonymous SNV ENSG00000172938:ENST00000309106:exon1:c.A949C:p.N317H NA NA 11q13.3 NA Name=ELF1_(SC-631) NA NA rs143309852 0.0027 0.0027 NA 0.00259585 0.004 NA 0.0043 0.0008 0.0051 0.01 NA 0.0028 0.002 0.0038 0.01 0.19 T 0.007 B 0.004 B 0.030 U 1.000 N 1.495 L 3.76 T -1.009 T 0.010 T 0.118 1.234 10.01 -9.11 -1.649 0.162 9.018 1.233728 1.233728 0.04 0.003697 0.001205 NA NA NA 10.3218364 1 1 1 3 171452701 171452701 C T exonic PLD1 NA nonsynonymous SNV PLD1:NM_001130081:exon5:c.G494A:p.R165H,PLD1:NM_002662:exon5:c.G494A:p.R165H exonic ENSG00000075651 NA nonsynonymous SNV ENSG00000075651:ENST00000340989:exon5:c.G494A:p.R165H,ENSG00000075651:ENST00000342215:exon5:c.G494A:p.R165H,ENSG00000075651:ENST00000351298:exon5:c.G494A:p.R165H,ENSG00000075651:ENST00000356327:exon5:c.G494A:p.R165H NA NA 3q26.31 NA NA NA NA rs148972595 0.0027 0.0027 0.003 0.00239617 0.005 NA 0.0072 0.0008 0.001 0.0026 NA 0.01 NA 0.0025 0.01 0.28 T 0.013 B 0.022 B 0.000 N 1.000 N 1.115 L 3.32 T -1.059 T 0.039 T 0.148 2.181 13.25 4.01 1.436 1.468 9.058 2.181483 2.181483 0.07 0.004419 0.000908 NA 0.007 NA 10.3214144 6 1 1 19 8171067 8171067 C T exonic FBN3 NA nonsynonymous SNV FBN3:NM_032447:exon37:c.G4738A:p.V1580I exonic ENSG00000142449 NA nonsynonymous SNV ENSG00000142449:ENST00000270509:exon37:c.G4738A:p.V1580I,ENSG00000142449:ENST00000600128:exon38:c.G4738A:p.V1580I,ENSG00000142449:ENST00000601739:exon38:c.G4738A:p.V1580I Score=572;Name=lod=281 NA 19p13.2 NA NA NA NA rs151274163 0.0023 0.0023 0.002 0.000998403 0.005 NA NA NA NA 0.01 NA NA NA 0.0058 0.01 1 T 0.0 B 0.0 B 0.023 N 0.994 N 0.475 N -3.77 D -0.509 T 0.512 D 0.051 -1.831 0.009 -0.849 -0.252 -0.293 11.606 -1.830866 NA 1 0.005465 0.002724 ID=COSM1157870;OCCURENCE=1(pancreas) NA NA 10.3170684 23 1 1 2 220099713 220099713 C T exonic ANKZF1 NA nonsynonymous SNV ANKZF1:NM_001042410:exon10:c.C1370T:p.T457I,ANKZF1:NM_018089:exon10:c.C1370T:p.T457I exonic ENSG00000163516 NA nonsynonymous SNV ENSG00000163516:ENST00000409849:exon7:c.C740T:p.T247I,ENSG00000163516:ENST00000323348:exon10:c.C1370T:p.T457I,ENSG00000163516:ENST00000410034:exon10:c.C1370T:p.T457I NA NA 2q35 NA NA NA NA rs140395841 0.0018 0.0018 0.002 0.00199681 0.004 NA NA NA 0.0061 0.004 NA 0.0028 NA 0.0066 0.011 0.21 T 0.048 B 0.01 B 0.106 N 1.000 N 1.87 L 1.9 T -1.087 T 0.050 T 0.113 -0.372 2.247 5.2 2.705 1.800 15.585 -0.372488 NA 0.1 0.005978 0.002217 NA 0.007 NA 10.3167554 3 2 2 8 38869207 38869207 G A exonic ADAM9 NA nonsynonymous SNV ADAM9:NM_003816:exon3:c.G226A:p.E76K exonic ENSG00000168615 NA nonsynonymous SNV ENSG00000168615:ENST00000379917:exon3:c.G226A:p.E76K,ENSG00000168615:ENST00000466936:exon3:c.G226A:p.E76K,ENSG00000168615:ENST00000468065:exon3:c.G226A:p.E76K,ENSG00000168615:ENST00000481513:exon3:c.G226A:p.E76K,ENSG00000168615:ENST00000481873:exon3:c.G226A:p.E76K,ENSG00000168615:ENST00000487273:exon3:c.G226A:p.E76K Score=498;Name=lod=141 NA 8p11.22 Score=833;Name=V$OCT1_02 NA NA NA rs61753672 0.0027 0.0027 0 0.00399361 0.005 NA 0.0029 0.0008 0.0123 0.004 NA 0.01 0.002 0.0064 0.011 0.97 T 0.084 B 0.097 B 0.003 N 0.633 N 0.28 N 3.24 T -0.951 T 0.008 T 0.218 0.349 5.892 1.19 0.469 1.084 6.302 0.348613 NA 0.3 0.00593 0.000454 NA 0.007 NA 10.3160034 4 1 1 16 723506 723506 C T exonic RHOT2 NA nonsynonymous SNV RHOT2:NM_138769:exon19:c.C1757T:p.P586L exonic ENSG00000140983 NA nonsynonymous SNV ENSG00000140983:ENST00000315082:exon19:c.C1757T:p.P586L NA NA 16p13.3 NA NA Name=4 NA rs147973504 0.0018 0.0018 0.001 0.00279553 0.006 NA 0.0029 NA 0.0061 0.004 NA 0.0028 NA 0.0053 0.011 0.12 T 0.021 B 0.017 B 0.007 N 0.733 N 0.345 N 2.58 T -1.024 T 0.017 T 0.146 1.405 10.63 4.64 2.139 0.468 14.996 1.404865 1.404865 0.04 0.006401 0.000909 ID=COSM328360;OCCURENCE=1(pancreas) 0.007 NA 10.3156324 6 1 1 19 14001206 14001206 G A exonic C19orf57 NA nonsynonymous SNV C19orf57:NM_024323:exon6:c.C463T:p.L155F exonic ENSG00000132016 NA nonsynonymous SNV ENSG00000132016:ENST00000586783:exon5:c.C463T:p.L155F,ENSG00000132016:ENST00000346736:exon6:c.C463T:p.L155F,ENSG00000132016:ENST00000454313:exon6:c.C463T:p.L155F NA NA 19p13.12 NA NA NA NA rs144502446 0.0046 0.0046 0.01 0.00279553 0.0089 NA 0.0014 0.0023 0.001 0.01 NA NA 0.0041 0.0072 0.011 0.25 T 0.0 B 0.001 B . . 1.000 N 0.145 N 1.67 T -1.066 T 0.020 T 0.023 -0.896 0.447 -5.29 -3.561 -4.466 0.575 -0.895879 NA 0.27 0.006409 0.001136 NA 0.007 NA 10.3108244 1 1 1 5 52240850 52240850 C A exonic ITGA1 NA nonsynonymous SNV ITGA1:NM_181501:exon27:c.C3363A:p.S1121R exonic ENSG00000213949 NA nonsynonymous SNV ENSG00000213949:ENST00000282588:exon27:c.C3363A:p.S1121R Score=450;Name=lod=90 NA 5q11.2 Score=791;Name=V$MEF2_02 NA Name=20 NA rs151102756 0.01 0.01 0.005 0.00539137 0.0129 0.001 0.0014 NA 0.0123 0.01 0.0017 0.0028 NA 0.0072 0.01 0.41 T 0.136 B 0.017 B 0.042 N 0.860 N 0.64 N 0.79 T -1.103 T 0.039 T 0.202 2.011 12.68 0.424 0.381 -0.592 0.543 2.010677 2.010677 0.12 0.007907 0.001362 NA NA NA 10.3053264 7 1 1 22 21133831 21133831 C A exonic SERPIND1 NA nonsynonymous SNV SERPIND1:NM_000185:exon2:c.C231A:p.D77E exonic ENSG00000099937 NA nonsynonymous SNV ENSG00000099937:ENST00000406799:exon1:c.C231A:p.D77E,ENSG00000099937:ENST00000215727:exon2:c.C231A:p.D77E NA NA 22q11.21 NA NA NA NA rs5903 NA NA NA 0.00339457 0.0119 NA 0.0043 NA 0.002 NA NA NA NA 0.0069 0.0097 1 T 0.0 B 0.0 B 0.001 N 1.000 N -0.295 N -1.53 D -0.812 T 0.089 T 0.122 0.164 4.885 -11.5 -1.815 -2.171 7.576 0.164489 NA 1 0.009651 0.00227 NA NA NA 10.3048824 1 1 1 7 44610376 44610376 G A exonic DDX56 NA stopgain DDX56:NM_019082:exon7:c.C991T:p.R331X exonic ENSG00000136271 NA stopgain ENSG00000136271:ENST00000258772:exon7:c.C991T:p.R331X,ENSG00000136271:ENST00000421223:exon7:c.C991T:p.R331X NA NA 7p13 Score=730;Name=V$PPARG_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008267 NA 0.36 T . . . . 0.176 N 1.000 N . . . . . . . . . 14.196 48 1.5 0.256 0.874 13.216 14.195918 14.195918 0.51 NA NA NA NA NA 9.9999917 2 2 1 9 118162670 118162670 C A exonic DEC1 NA nonsynonymous SNV DEC1:NM_017418:exon6:c.C46A:p.P16T exonic ENSG00000173077 NA nonsynonymous SNV ENSG00000173077:ENST00000374016:exon6:c.C46A:p.P16T NA NA 9q33.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008293 NA 0 D 0.722 P 0.156 B . . 1.000 N . . 0.19 T -1.023 T 0.112 T 0.124 0.032 4.178 -1.37 -0.540 -0.199 6.563 0.031525 NA NA NA NA ID=COSM202034;OCCURENCE=1(large_intestine) NA NA 9.8333251 1 1 1 6 90368431 90368431 T A exonic MDN1 NA nonsynonymous SNV MDN1:NM_014611:exon89:c.A14919T:p.E4973D exonic ENSG00000112159 NA nonsynonymous SNV ENSG00000112159:ENST00000369393:exon89:c.A14919T:p.E4973D,ENSG00000112159:ENST00000428876:exon89:c.A14919T:p.E4973D Score=272;Name=lod=17 NA 6q15 NA NA NA NA rs139030773 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004942 0.0005 0.36 T 0.759 P 0.202 B 0.000 D 0.668 N 1.1 L 3.8 T -0.820 T 0.004 T 0.196 1.953 12.49 1.02 0.361 0.103 7.265 1.952733 1.952733 0.06 0.000116 0.000454 NA NA NA 9.833168 18 1 1 1 161018422 161018422 C G exonic ARHGAP30 NA nonsynonymous SNV ARHGAP30:NM_001025598:exon12:c.G2389C:p.D797H exonic ENSG00000186517 NA nonsynonymous SNV ENSG00000186517:ENST00000368015:exon8:c.G1858C:p.D620H,ENSG00000186517:ENST00000368013:exon12:c.G2389C:p.D797H NA NA 1q23.3 NA NA NA NA rs61733353 0.0032 0.0032 0.001 0.0081869 NA NA 0.0029 0.0295 NA NA NA 0.01 0.01 0.0024 0.019 0.03 D 0.553 P 0.343 B 0.438 N 1.000 N 2.015 M 3.01 T -1.021 T 0.037 T 0.089 0.369 6.003 0.756 0.282 -0.310 4.019 0.369047 NA 0.03 0.000116 0.018838 NA 0.007 NA 9.8308174 2 1 1 1 3329051 3329051 G A exonic PRDM16 NA nonsynonymous SNV PRDM16:NM_022114:exon9:c.G2290A:p.V764M,PRDM16:NM_199454:exon9:c.G2290A:p.V764M exonic ENSG00000142611 NA nonsynonymous SNV ENSG00000142611:ENST00000509860:exon5:c.G1717A:p.V573M,ENSG00000142611:ENST00000270722:exon9:c.G2290A:p.V764M,ENSG00000142611:ENST00000378391:exon9:c.G2290A:p.V764M,ENSG00000142611:ENST00000441472:exon9:c.G2290A:p.V764M,ENSG00000142611:ENST00000442529:exon9:c.G2290A:p.V764M,ENSG00000142611:ENST00000511072:exon9:c.G2293A:p.V765M,ENSG00000142611:ENST00000514189:exon9:c.G2293A:p.V765M,ENSG00000142611:ENST00000378398:exon10:c.G2293A:p.V765M Score=582;Name=lod=308 NA 1p36.32 NA NA NA NA rs149333409 0.0023 0.0023 0.002 0.000798722 0.003 NA 0.0014 NA NA 0.01 NA NA NA 0.0012 0.01 0.07 T 0.8 P 0.259 B 0.071 U 0.920 N 1.87 L 3.45 T -1.031 T 0.012 T 0.131 0.201 5.084 1.68 0.241 1.877 5.922 0.201188 NA 0.02 0.002402 0 NA NA NA 9.8267314 1 1 1 1 67279835 67279835 G A exonic WDR78 NA nonsynonymous SNV WDR78:NM_024763:exon17:c.C2525T:p.S842F exonic ENSG00000152763 NA nonsynonymous SNV ENSG00000152763:ENST00000464352:exon12:c.C1724T:p.S575F,ENSG00000152763:ENST00000431318:exon16:c.C1664T:p.S555F,ENSG00000152763:ENST00000371026:exon17:c.C2525T:p.S842F NA NA 1p31.3 NA NA NA NA rs148734945 0.0027 0.0027 NA 0.000998403 0.004 NA 0.0014 NA NA 0.0026 0.0017 0.01 NA 0.0019 0.01 0.03 D 0.498 P 0.153 B 0.335 N 1.000 N 0.345 N 0.35 T -0.993 T 0.073 T 0.24 0.622 7.347 1.77 0.293 1.177 8.201 0.622068 NA 0.01 0.003505 0.000454 NA 0.007 NA 9.8239284 3 1 1 10 105037868 105037868 C T exonic INA NA synonymous SNV INA:NM_032727:exon1:c.C900T:p.R300R exonic ENSG00000148798 NA synonymous SNV ENSG00000148798:ENST00000369849:exon1:c.C900T:p.R300R Score=791;Name=lod=2184 NA 10q24.33 Score=847;Name=V$ELK1_01 NA Name=3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.183071 NA NA NA NA NA NA NA 9.6666666 1 1 1 19 10939816 10939816 C T exonic DNM2 NA synonymous SNV DNM2:NM_001005362:exon18:c.C2151T:p.D717D,DNM2:NM_004945:exon18:c.C2151T:p.D717D,DNM2:NM_001005360:exon19:c.C2163T:p.D721D,DNM2:NM_001005361:exon19:c.C2163T:p.D721D,DNM2:NM_001190716:exon19:c.C2163T:p.D721D exonic ENSG00000079805 NA synonymous SNV ENSG00000079805:ENST00000359692:exon18:c.C2151T:p.D717D,ENSG00000079805:ENST00000408974:exon18:c.C2151T:p.D717D,ENSG00000079805:ENST00000314646:exon19:c.C2163T:p.D721D,ENSG00000079805:ENST00000355667:exon19:c.C2163T:p.D721D,ENSG00000079805:ENST00000389253:exon19:c.C2163T:p.D721D,ENSG00000079805:ENST00000585892:exon19:c.C2163T:p.D721D Score=552;Name=lod=233 NA 19p13.2 NA Name=CTCF,ZBTB33,CTCF_(SC-5916) Name=8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.706356 NA NA NA NA NA NA NA 9.6666666 5 1 1 17 7406476 7406476 G C exonic POLR2A NA synonymous SNV POLR2A:NM_000937:exon17:c.G2793C:p.R931R exonic ENSG00000181222 NA synonymous SNV ENSG00000181222:ENST00000322644:exon17:c.G2793C:p.R931R Score=560;Name=lod=251 NA 17p13.1 NA Name=CTCF_(C-20),CTCF,CTCF_(SC-5916),Pol2-4H8,SMC3_(ab9263),Rad21 Name=14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008624 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.103732 NA NA NA NA NA NA NA 9.666658 4 1 1 6 116325143 116325143 G A exonic FRK NA synonymous SNV FRK:NM_002031:exon2:c.C363T:p.I121I exonic ENSG00000111816 NA synonymous SNV ENSG00000111816:ENST00000606080:exon2:c.C363T:p.I121I Score=540;Name=lod=209 NA 6q22.1 NA Name=JunD,PU.1 Name=7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001657 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.4737 NA NA NA NA NA NA NA 9.66665 5 1 1 11 116661330 116661330 G A exonic APOA5 NA synonymous SNV APOA5:NM_001166598:exon4:c.C615T:p.H205H,APOA5:NM_052968:exon4:c.C615T:p.H205H exonic ENSG00000110243 NA synonymous SNV ENSG00000110243:ENST00000227665:exon3:c.C615T:p.H205H,ENSG00000110243:ENST00000542499:exon4:c.C615T:p.H205H Score=433;Name=lod=77 NA 11q23.3 Score=960;Name=V$USF_C NA Name=8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001861 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.832431 NA NA NA NA NA NA NA 9.666648 4 1 1 11 76867745 76867745 G A exonic MYO7A NA synonymous SNV MYO7A:NM_000260:exon6:c.G510A:p.L170L,MYO7A:NM_001127179:exon6:c.G510A:p.L170L,MYO7A:NM_001127180:exon6:c.G510A:p.L170L exonic ENSG00000137474 NA synonymous SNV ENSG00000137474:ENST00000409709:exon6:c.G510A:p.L170L,ENSG00000137474:ENST00000409893:exon6:c.G510A:p.L170L,ENSG00000137474:ENST00000458637:exon6:c.G510A:p.L170L,ENSG00000137474:ENST00000409619:exon7:c.G477A:p.L159L Score=525;Name=lod=181 NA 11q13.5 Score=734;Name=V$PPARG_01 NA NA Score=87;Name=431899_0_+_87 rs34477144 0.0018 0.0018 0.001 0.000998403 0.001 NA 0.0014 0.0015 0.001 0.0013 NA 0.01 0.002 0.0025 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.103259 NA NA 0.002724 0 NA NA CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036177.1;CLNDSDB=.;CLNDSDBID=. 9.6604426 1 1 1 7 151859523 151859523 G A exonic MLL3 NA synonymous SNV MLL3:NM_170606:exon43:c.C11139T:p.A3713A exonic ENSG00000055609 NA synonymous SNV ENSG00000055609:ENST00000424877:exon1:c.C897T:p.A299A,ENSG00000055609:ENST00000262189:exon43:c.C11139T:p.A3713A,ENSG00000055609:ENST00000355193:exon43:c.C11139T:p.A3713A NA NA 7q36.1 NA NA Name=3 NA rs140482040 0.0005 0.0005 NA 0.00119808 0.004 NA 0.0029 NA NA 0.0013 NA NA NA 0.0029 0.0045 . . . . . . . . 1.000 N . . . . . . . . . 1.401 10.62 3.4 1.268 0.630 6.324 1.40119 1.40119 NA 0.004535 0.000227 NA NA NA 9.6552316 3 2 1 17 10551919 10551919 G C exonic MYH3 NA synonymous SNV MYH3:NM_002470:exon8:c.C690G:p.A230A exonic ENSG00000109063 NA synonymous SNV ENSG00000109063:ENST00000226209:exon7:c.C690G:p.A230A,ENSG00000109063:ENST00000583535:exon8:c.C690G:p.A230A Score=488;Name=lod=128 NA 17p13.1 Score=987;Name=V$IK2_01 Name=CTCF Name=4 NA rs147148934 0.0032 0.0032 0.003 0.00319489 0.003 NA 0.0072 0.0008 0.0072 0.004 NA 0.01 0.002 0.0048 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.531339 NA NA 0.004767 0.00227 NA NA NA 9.6540996 25 4 2 1 879482 879482 G C exonic SAMD11 NA synonymous SNV SAMD11:NM_152486:exon14:c.G1995C:p.G665G exonic ENSG00000187634 NA synonymous SNV ENSG00000187634:ENST00000342066:exon14:c.G1995C:p.G665G NA NA 1p36.33 NA NA NA NA rs149880798 0.01 0.01 0.004 0.00399361 0.0149 NA 0.0072 NA NA 0.02 NA 0.01 NA 0.0062 0.02 0.01 D . . . . 0.000 D 0.690 N . . . . -0.968 T 0.056 T . -0.843 0.567 -5.2 -0.861 -0.113 3.898 -0.842805 NA NA 0.008837 0.001816 NA NA NA 9.6367296 2 1 1 8 25365148 25365148 C T exonic CDCA2 NA nonsynonymous SNV CDCA2:NM_152562:exon15:c.C2966T:p.T989I exonic ENSG00000184661 NA nonsynonymous SNV ENSG00000184661:ENST00000380665:exon14:c.C2921T:p.T974I,ENSG00000184661:ENST00000330560:exon15:c.C2966T:p.T989I NA NA 8p21.2 NA NA Name=24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.29 T 0.178 B 0.165 B 0.159 N 1.000 N 0.805 L 1.44 T -1.036 T 0.054 T 0.093 2.196 13.3 0.542 0.073 -0.220 1.929 2.195731 2.195731 0.06 NA NA NA NA NA 9.3333334 1 1 1 19 36342551 36342551 C G exonic NPHS1 NA nonsynonymous SNV NPHS1:NM_004646:exon2:c.G82C:p.A28P exonic ENSG00000161270 NA nonsynonymous SNV ENSG00000161270:ENST00000353632:exon2:c.G82C:p.A28P,ENSG00000161270:ENST00000378910:exon2:c.G82C:p.A28P NA NA 19q13.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001963 NA 0.04 D 0.442 B 0.135 B 0.002 N 1.000 N 0.46 N -0.71 T -0.891 T 0.178 T 0.423 3.67 18.65 1.41 0.574 . 7.226 3.669784 3.669784 0.03 NA NA NA NA NA 9.3333138 1 1 1 9 135140221 135140221 G A exonic SETX NA nonsynonymous SNV SETX:NM_015046:exon26:c.C7439T:p.A2480V exonic ENSG00000107290 NA nonsynonymous SNV ENSG00000107290:ENST00000436441:exon17:c.C2252T:p.A751V,ENSG00000107290:ENST00000393220:exon25:c.C7340T:p.A2447V,ENSG00000107290:ENST00000224140:exon26:c.C7439T:p.A2480V,ENSG00000107290:ENST00000372169:exon27:c.C7526T:p.A2509V NA NA 9q34.13 NA NA NA NA rs376524608 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004118 0.0001 0.25 T 0.041 B 0.011 B 0.065 N 1.000 N 1.67 L -1.73 D -0.448 T 0.554 D 0.051 2.064 12.86 0.049 0.154 0.645 7.848 2.064254 2.064254 0.08 0.000116 0 NA NA NA 9.3331762 1 1 1 14 51226983 51226983 G A exonic NIN NA nonsynonymous SNV NIN:NM_016350:exon17:c.C1991T:p.T664I,NIN:NM_020921:exon17:c.C1991T:p.T664I,NIN:NM_182944:exon17:c.C1991T:p.T664I,NIN:NM_182946:exon17:c.C1991T:p.T664I exonic ENSG00000100503 NA nonsynonymous SNV ENSG00000100503:ENST00000530997:exon15:c.C1991T:p.T664I,ENSG00000100503:ENST00000382043:exon16:c.C1991T:p.T664I,ENSG00000100503:ENST00000245441:exon17:c.C1991T:p.T664I,ENSG00000100503:ENST00000324330:exon17:c.C1991T:p.T664I,ENSG00000100503:ENST00000382041:exon17:c.C1991T:p.T664I,ENSG00000100503:ENST00000389868:exon17:c.C1991T:p.T664I,ENSG00000100503:ENST00000453196:exon17:c.C1991T:p.T664I,ENSG00000100503:ENST00000476352:exon17:c.C1991T:p.T664I NA NA 14q22.1 NA Name=YY1 Name=3 NA rs147946706 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0003 0.0001 0.32 T 0.002 B 0.009 B 0.980 N 1.000 N 0.4 N 3.51 T -0.949 T 0.021 T 0.2 1.095 9.467 1.72 0.284 0.443 6.837 1.094578 NA 0.16 0.000116 0 NA NA NA 9.3329174 12 2 2 9 35869498 35869498 C T exonic OR13J1 NA nonsynonymous SNV OR13J1:NM_001004487:exon1:c.G901A:p.A301T exonic ENSG00000168828 NA nonsynonymous SNV ENSG00000168828:ENST00000377981:exon1:c.G901A:p.A301T NA NA 9p13.3 NA NA NA NA rs146834712 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 0.0005 0.02 D 0.01 B 0.002 B 0.254 N 1.000 N 1.04 L 1.19 T -1.018 T 0.071 T 0.158 0.457 6.481 2.66 0.417 -0.387 11.945 0.456986 NA 0.01 0.000465 0 NA NA NA 9.3326684 2 1 1 1 62910770 62910770 A G exonic USP1 NA nonsynonymous SNV USP1:NM_001017415:exon6:c.A919G:p.T307A,USP1:NM_001017416:exon6:c.A919G:p.T307A,USP1:NM_003368:exon6:c.A919G:p.T307A exonic ENSG00000162607 NA nonsynonymous SNV ENSG00000162607:ENST00000339950:exon6:c.A919G:p.T307A,ENSG00000162607:ENST00000371146:exon6:c.A919G:p.T307A NA NA 1p31.3 NA NA NA NA NA NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.000008339 NA 0.74 T 0.0 B 0.003 B 0.026 N 1.000 N 1.245 L 2.29 T -0.985 T 0.019 T 0.043 1.112 9.536 -2.73 -0.331 0.344 0.537 1.112106 NA 0.32 NA NA NA NA NA 9.3323251 1 1 1 8 96259948 96259948 T C exonic C8orf37 NA nonsynonymous SNV C8orf37:NM_177965:exon6:c.A521G:p.K174R exonic ENSG00000156172 NA nonsynonymous SNV ENSG00000156172:ENST00000286688:exon6:c.A521G:p.K174R Score=363;Name=lod=40 NA 8q22.1 NA NA NA NA rs148114532 NA NA NA 0.000998403 NA NA NA NA 0.0051 NA NA NA NA 0.0007 0.0006 0.1 T 0.433 B 0.127 B 0.007 N 0.955 N 1.87 L -1.65 D -0.551 T 0.422 T 0.133 2.839 15.46 1.45 0.006 0.561 13.087 2.838787 2.838787 0.3 0.000581 0 NA NA NA 9.3320524 1 1 1 20 44511254 44511254 C T exonic ZSWIM1 NA nonsynonymous SNV ZSWIM1:NM_080603:exon2:c.C23T:p.P8L exonic ENSG00000168612 NA nonsynonymous SNV ENSG00000168612:ENST00000372520:exon2:c.C23T:p.P8L,ENSG00000168612:ENST00000372523:exon2:c.C23T:p.P8L NA NA 20q13.12 NA Name=NRSF NA NA rs35165640 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0002 0.0013 0.02 D 0.011 B 0.001 B . . 1.000 N 0 N 1.84 T -1.014 T 0.028 T 0.087 0.073 4.395 0.014 -0.031 -0.016 3.879 0.072866 NA 0.21 0.000349 0 NA NA NA 9.3317844 1 1 1 19 55087468 55087468 G A exonic LILRA2 NA nonsynonymous SNV LILRA2:NM_001130917:exon6:c.G1147A:p.G383S,LILRA2:NM_006866:exon6:c.G1147A:p.G383S exonic ENSG00000239998 NA nonsynonymous SNV ENSG00000239998:ENST00000391737:exon5:c.G1111A:p.G371S,ENSG00000239998:ENST00000251376:exon6:c.G1147A:p.G383S,ENSG00000239998:ENST00000391738:exon6:c.G1147A:p.G383S,ENSG00000239998:ENST00000251377:exon7:c.G1147A:p.G383S NA NA 19q13.42 NA NA NA NA rs151154459 0.0005 0.0005 NA 0.000399361 0.001 NA 0.0014 NA NA 0.0013 NA NA NA 0.0008 0.0013 . . 0.009 B 0.047 B 0.154 N 1.000 N -0.07 N 4.4 T -0.915 T 0.005 T 0.123 -1.503 0.017 -3.32 -0.506 -2.363 4.249 -1.502921 NA 1 0.000581 0.000227 NA NA NA 9.3309524 3 2 2 10 70968613 70968613 C A exonic SUPV3L1 NA nonsynonymous SNV SUPV3L1:NM_003171:exon15:c.C2183A:p.A728E exonic ENSG00000156502 NA nonsynonymous SNV ENSG00000156502:ENST00000359655:exon15:c.C2183A:p.A728E NA NA 10q22.1 Score=764;Name=V$PAX5_01 NA NA NA rs200900544 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0007 0.0013 0.39 T 0.012 B 0.01 B 0.989 N 1.000 N 0.895 L 1.58 T -0.999 T 0.041 T 0.191 -1.952 0.007 -2.32 -0.391 -0.259 2.626 -1.951546 NA 0.96 0.000814 0.000227 NA NA NA 9.3308194 6 2 1 1 150131687 150131687 C T exonic PLEKHO1 NA nonsynonymous SNV PLEKHO1:NM_016274:exon6:c.C1199T:p.P400L exonic ENSG00000023902 NA nonsynonymous SNV ENSG00000023902:ENST00000025469:exon5:c.C1097T:p.P366L,ENSG00000023902:ENST00000369126:exon5:c.C650T:p.P217L,ENSG00000023902:ENST00000369124:exon6:c.C1199T:p.P400L NA NA 1q21.2 Score=837;Name=V$GRE_C Name=Pol2-4H8,c-Fos NA NA rs150382228 0.0009 0.0009 NA 0.000399361 0.001 NA 0.0014 NA NA 0.0013 NA 0.0028 NA 0.0011 0.0028 0.32 T 0.063 B 0.016 B 0.999 N 1.000 N 0 N 1.06 T -0.981 T 0.022 T 0.146 1.568 11.2 -0.792 0.016 0.552 13.372 1.567933 1.567933 0.12 0.001163 0 NA NA NA 9.3300704 1 1 1 10 126172791 126172791 G A exonic LHPP NA nonsynonymous SNV LHPP:NM_001167880:exon2:c.G209A:p.R70K,LHPP:NM_022126:exon2:c.G209A:p.R70K exonic ENSG00000107902 NA nonsynonymous SNV ENSG00000107902:ENST00000368839:exon2:c.G209A:p.R70K,ENSG00000107902:ENST00000368842:exon2:c.G209A:p.R70K,ENSG00000107902:ENST00000392757:exon2:c.G209A:p.R70K NA NA 10q26.13 NA NA NA NA rs148962333 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0009 0.0017 0.4 T 0.008 B 0.009 B 0.664 N 1.000 N 1.02 L 1.67 T -1.021 T 0.045 T 0.165 0.167 4.897 -7.11 -1.870 -0.129 8.011 0.166709 NA 0.38 0.001744 0.000227 NA NA NA 9.3296894 5 2 1 21 32127470 32127470 T C exonic KRTAP21-1 NA nonsynonymous SNV KRTAP21-1:NM_181619:exon1:c.A227G:p.Y76C exonic ENSG00000187005 NA nonsynonymous SNV ENSG00000187005:ENST00000335093:exon1:c.A227G:p.Y76C Score=389;Name=lod=51 NA 21q22.11 NA NA NA NA rs148348278 NA NA NA 0.00199681 NA NA NA NA 0.0102 NA NA NA NA 0.003 0.0014 0 D 0.008 B 0.006 B . . 1.000 N . . . . -1.003 T 0.073 T 0.324 0.099 4.533 0.614 0.237 0.103 5.775 0.099027 NA 0 0.001395 0.000227 NA NA NA 9.3289384 1 1 1 16 84520339 84520339 T C exonic TLDC1 NA nonsynonymous SNV TLDC1:NM_020947:exon5:c.A856G:p.I286V exonic ENSG00000140950 NA nonsynonymous SNV ENSG00000140950:ENST00000343629:exon5:c.A856G:p.I286V,ENSG00000140950:ENST00000535580:exon6:c.A775G:p.I259V NA NA 16q24.1 NA NA NA NA rs141459520 0.0005 0.0005 NA 0.000599042 0.003 NA NA NA NA 0.0013 NA NA NA 0.0009 0.0013 0.03 D 0.071 B 0.107 B 0.011 N 1.000 N 1.44 L 0.96 T -0.983 T 0.095 T 0.227 -0.121 3.41 1.75 0.016 1.422 8.882 -0.120503 NA 0.17 0.001279 0.000455 NA NA NA 9.3281544 2 1 1 6 66115146 66115146 C T exonic EYS NA nonsynonymous SNV EYS:NM_198283:exon5:c.G977A:p.S326N,EYS:NM_001142800:exon6:c.G977A:p.S326N,EYS:NM_001142801:exon6:c.G977A:p.S326N exonic ENSG00000188107 NA nonsynonymous SNV ENSG00000188107:ENST00000370616:exon3:c.G977A:p.S326N,ENSG00000188107:ENST00000342421:exon4:c.G977A:p.S326N,ENSG00000188107:ENST00000370618:exon6:c.G977A:p.S326N,ENSG00000188107:ENST00000370621:exon6:c.G977A:p.S326N,ENSG00000188107:ENST00000393380:exon6:c.G977A:p.S326N,ENSG00000188107:ENST00000503581:exon6:c.G977A:p.S326N NA NA 6q12 NA NA NA NA rs112822256 0.0023 0.0023 0.003 0.00219649 0.003 NA NA 0.0053 0.001 0.0026 NA NA 0.01 0.0018 0.011 0.03 D 0.001 B 0.001 B . . 1.000 N 0.6 N -1.61 D -0.827 T 0.246 T 0.045 0.984 9.018 -1.66 -0.679 0.103 6.756 0.984254 NA 0.01 0.001279 0.006128 NA 0.007 NA 9.3272544 3 1 1 14 55509919 55509919 G A exonic SOCS4 NA nonsynonymous SNV SOCS4:NM_080867:exon2:c.G160A:p.G54S,SOCS4:NM_199421:exon3:c.G160A:p.G54S exonic ENSG00000180008 NA nonsynonymous SNV ENSG00000180008:ENST00000339298:exon2:c.G160A:p.G54S,ENSG00000180008:ENST00000395472:exon2:c.G160A:p.G54S,ENSG00000180008:ENST00000555846:exon3:c.G160A:p.G54S NA NA 14q22.3 NA NA NA NA rs146421724 0.0009 0.0009 NA 0.00179712 0.003 NA 0.0086 NA NA 0.0013 NA 0.0028 NA 0.0014 0.0028 0.15 T 0.0 B 0.0 B 0.310 N 1.000 N 0 N 1.48 T -1.024 T 0.035 T 0.029 -0.395 2.148 -4.77 -1.350 -0.433 6.006 -0.395268 NA 0.2 0.001744 0 NA NA NA 9.3271894 1 1 1 12 32994073 32994073 G A exonic PKP2 NA nonsynonymous SNV PKP2:NM_001005242:exon6:c.C1445T:p.T482M,PKP2:NM_004572:exon7:c.C1577T:p.T526M exonic ENSG00000057294 NA nonsynonymous SNV ENSG00000057294:ENST00000340811:exon6:c.C1445T:p.T482M,ENSG00000057294:ENST00000070846:exon7:c.C1577T:p.T526M NA NA 12p11.21 NA NA NA NA rs146882581 0.0023 0.0023 0.002 0.00379393 0.005 NA 0.0029 0.0091 NA 0.0026 NA NA 0.01 0.0023 0.01 0.12 T 0.198 B 0.032 B 0.002 N 1.000 N 1.56 L -1.07 T -0.835 T 0.225 T 0.278 -0.137 3.327 2.01 0.068 0.502 8.816 -0.137495 NA 0.08 0.002326 0.006355 NA NA CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038172.1;CLNDSDB=.;CLNDSDBID=. 9.3237074 1 1 1 9 136340625 136340625 C T exonic SLC2A6 NA nonsynonymous SNV SLC2A6:NM_001145099:exon5:c.G671A:p.R224Q,SLC2A6:NM_017585:exon5:c.G671A:p.R224Q exonic ENSG00000160326 NA nonsynonymous SNV ENSG00000160326:ENST00000371897:exon5:c.G671A:p.R224Q,ENSG00000160326:ENST00000371899:exon5:c.G671A:p.R224Q Score=426;Name=lod=72 NA 9q34.2 NA NA NA NA rs147854160 NA NA NA 0.000798722 0.003 NA 0.0014 NA NA NA NA NA NA 0.0026 0.0051 0.37 T 0.021 B 0.003 B 0.042 N 0.996 N -0.525 N -0.84 T -1.018 T 0.092 T 0.024 0.598 7.225 0.644 0.206 1.189 6.988 0.598187 NA 0.8 0.005117 0.00091 NA NA NA 9.3226164 2 2 2 12 57132236 57132236 C T exonic PRIM1 NA nonsynonymous SNV PRIM1:NM_000946:exon11:c.G1126A:p.V376I exonic ENSG00000198056 NA nonsynonymous SNV ENSG00000198056:ENST00000338193:exon11:c.G1126A:p.V376I Score=456;Name=lod=95 NA 12q13.3 NA NA NA NA rs143246089 0.0037 0.0037 0.004 0.00259585 0.004 NA 0.0101 0.0008 0.001 0.004 NA 0.01 0.002 0.0067 0.01 0.2 T 0.0 B 0.0 B 0.448 N 1.000 N -1.1 N 0.96 T -1.029 T 0.025 T 0.011 1.107 9.516 2.0 0.349 -0.217 6.071 1.106991 NA 0.53 0.008427 0.00134 NA NA NA 9.3142064 1 1 1 3 100364914 100364914 G A exonic GPR128 NA nonsynonymous SNV GPR128:NM_032787:exon9:c.G1072A:p.D358N exonic ENSG00000144820 NA nonsynonymous SNV ENSG00000144820:ENST00000475887:exon3:c.G187A:p.D63N,ENSG00000144820:ENST00000273352:exon9:c.G1072A:p.D358N NA NA 3q12.2 NA NA NA NA rs61742836 0.01 0.01 0.01 0.00419329 0.0159 NA 0.0043 0.0015 NA 0.01 NA 0.0028 0.01 0.0049 0.011 0.75 T 0.001 B 0.002 B 0.866 N 1.000 N 1.155 L 1.44 T -0.992 T 0.044 T 0.006 1.211 9.917 -2.94 -0.446 -1.582 7.078 1.211071 NA 0.29 0.007442 0.001135 NA 0.007 NA 9.3050914 4 1 1 6 11105483 11105483 C A exonic ERVFRD-1 NA nonsynonymous SNV ERVFRD-1:NM_207582:exon2:c.G61T:p.D21Y exonic ENSG00000244476 NA nonsynonymous SNV ENSG00000244476:ENST00000542862:exon1:c.G61T:p.D21Y,ENSG00000244476:ENST00000472091:exon2:c.G61T:p.D21Y NA NA 6p24.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003313 0.011 0.04 D 0.743 P 0.095 B . . 0.670 N 0.345 N 2.43 T -0.962 T 0.007 T 0.388 1.914 12.36 0.235 0.308 0.305 . 1.913789 1.913789 NA NA NA NA 0.007 NA 8.8333003 1 1 1 11 433417 433417 C T exonic ANO9 NA nonsynonymous SNV ANO9:NM_001012302:exon4:c.G247A:p.D83N exonic ENSG00000185101 NA nonsynonymous SNV ENSG00000185101:ENST00000332826:exon4:c.G247A:p.D83N NA NA 11p15.5 NA NA NA NA rs150163423 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0008 0.0009 0.02 D 0.454 P 0.115 B 0.000 N 1.000 N 0.805 L -0.27 T -0.922 T 0.169 T 0.068 -0.754 0.806 0.433 0.114 -0.783 3.842 -0.75377 NA 0.12 0.00093 0.000454 NA NA NA 8.8306034 1 1 1 12 15035919 15035919 T C exonic MGP NA nonsynonymous SNV MGP:NM_000900:exon3:c.A157G:p.K53E,MGP:NM_001190839:exon4:c.A232G:p.K78E exonic ENSG00000111341 NA nonsynonymous SNV ENSG00000111341:ENST00000539261:exon3:c.A157G:p.K53E,ENSG00000111341:ENST00000228938:exon4:c.A232G:p.K78E NA NA 12p12.3 NA NA NA NA rs1801716 0.0023 0.0023 0.003 0.00399361 0.003 NA 0.0043 NA 0.0143 0.004 NA 0.01 NA 0.0051 0.01 0.28 T 0.454 P 0.026 B 0.556 N 1.000 N 1.245 L 1.52 T -1.047 T 0.031 T 0.449 1.369 10.5 1.86 0.166 1.799 4.413 1.368978 1.368978 0.55 0.004884 0.000908 NA NA NA 8.8203494 2 1 1 1 161126745 161126745 G A exonic UFC1 NA synonymous SNV UFC1:NM_016406:exon2:c.G129A:p.V43V exonic ENSG00000143222 NA synonymous SNV ENSG00000143222:ENST00000368003:exon2:c.G129A:p.V43V Score=507;Name=lod=154 NA 1q23.3 Score=843;Name=V$FOXO4_02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.952975 NA NA NA NA NA NA NA 8.6666666 2 1 1 3 99569638 99569638 T C exonic FILIP1L NA synonymous SNV FILIP1L:NM_014890:exon2:c.A162G:p.E54E,FILIP1L:NM_001042459:exon5:c.A882G:p.E294E,FILIP1L:NM_182909:exon5:c.A882G:p.E294E exonic ENSG00000168386 NA synonymous SNV ENSG00000168386:ENST00000383694:exon2:c.A162G:p.E54E,ENSG00000168386:ENST00000471562:exon2:c.A162G:p.E54E,ENSG00000168386:ENST00000495625:exon3:c.A162G:p.E54E,ENSG00000168386:ENST00000331335:exon5:c.A882G:p.E294E,ENSG00000168386:ENST00000354552:exon5:c.A882G:p.E294E Score=616;Name=lod=425 NA 3q12.1 NA NA Name=19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.447102 NA NA NA NA NA NA NA 8.6666666 2 1 1 12 132490838 132490838 C G exonic EP400 NA synonymous SNV EP400:NM_015409:exon14:c.C3117G:p.V1039V exonic ENSG00000183495 NA synonymous SNV ENSG00000183495:ENST00000332482:exon13:c.C3006G:p.V1002V,ENSG00000183495:ENST00000330386:exon14:c.C3117G:p.V1039V,ENSG00000183495:ENST00000389561:exon14:c.C3117G:p.V1039V,ENSG00000183495:ENST00000389562:exon14:c.C3114G:p.V1038V,ENSG00000183495:ENST00000333577:exon15:c.C3225G:p.V1075V Score=462;Name=lod=101 NA 12q24.33 NA NA Name=2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.890294 NA NA NA NA NA NA NA 8.6666666 5 1 1 2 48026799 48026799 C T exonic MSH6 NA synonymous SNV MSH6:NM_000179:exon4:c.C1677T:p.C559C exonic ENSG00000116062 NA synonymous SNV ENSG00000116062:ENST00000540021:exon2:c.C1287T:p.C429C,ENSG00000116062:ENST00000234420:exon4:c.C1677T:p.C559C,ENSG00000116062:ENST00000538136:exon4:c.C771T:p.C257C Score=493;Name=lod=135 NA 2p16.3 NA Name=BCL3 NA NA rs63749893 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008266 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.057606 NA NA NA NA NA NA CLINSIG=unknown;CLNDBN=Lynch_syndrome;CLNREVSTAT=exp;CLNACC=RCV000074679.1;CLNDSDB=GeneReviews:MedGen:SNOMED_CT;CLNDSDBID=NBK1211:C0009405:315058005 8.6666583 3 1 1 20 8745817 8745817 G A exonic PLCB1 NA synonymous SNV PLCB1:NM_015192:exon26:c.G2742A:p.K914K,PLCB1:NM_182734:exon26:c.G2742A:p.K914K exonic ENSG00000182621 NA synonymous SNV ENSG00000182621:ENST00000338037:exon26:c.G2742A:p.K914K,ENSG00000182621:ENST00000378637:exon26:c.G2742A:p.K914K,ENSG00000182621:ENST00000378641:exon26:c.G2742A:p.K914K Score=457;Name=lod=96 NA 20p12.3 Score=836;Name=V$RFX1_02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002492 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.109695 NA NA NA NA NA NA NA 8.6666417 7 1 1 19 4028798 4028798 G C exonic PIAS4 NA synonymous SNV PIAS4:NM_015897:exon6:c.G753C:p.L251L exonic ENSG00000105229 NA synonymous SNV ENSG00000105229:ENST00000262971:exon6:c.G753C:p.L251L Score=589;Name=lod=329 NA 19p13.3 Score=798;Name=V$COMP1_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002496 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.151904 NA NA NA NA NA NA NA 8.6666416 2 1 1 19 42213898 42213898 C T exonic CEACAM5 NA synonymous SNV CEACAM5:NM_004363:exon2:c.C364T:p.L122L exonic ENSG00000105388,ENSG00000267881 NA synonymous SNV ENSG00000105388:ENST00000221992:exon2:c.C364T:p.L122L,ENSG00000105388:ENST00000398599:exon2:c.C364T:p.L122L,ENSG00000105388:ENST00000405816:exon2:c.C364T:p.L122L,ENSG00000267881:ENST00000598976:exon2:c.C364T:p.L122L NA NA 19q13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003341 NA . . . . . . . . 1.000 N . . . . -1.000 T 0.058 T . -0.385 2.194 -0.993 0.156 -1.767 5.338 -0.3845 NA NA NA NA NA NA NA 8.6666332 6 1 1 10 99358629 99358629 C T exonic HOGA1 NA synonymous SNV HOGA1:NM_138413:exon2:c.C309T:p.N103N exonic ENSG00000241935 NA synonymous SNV ENSG00000241935:ENST00000370646:exon2:c.C309T:p.N103N Score=471;Name=lod=109 NA 10q24.2 NA NA Name=6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004943 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.043967 NA NA NA NA NA NA NA 8.6666172 4 1 1 20 45221159 45221159 C T exonic SLC13A3 NA synonymous SNV SLC13A3:NM_001193342:exon6:c.G510A:p.P170P,SLC13A3:NM_022829:exon6:c.G804A:p.P268P,SLC13A3:NM_001011554:exon7:c.G663A:p.P221P,SLC13A3:NM_001193340:exon7:c.G663A:p.P221P exonic ENSG00000158296 NA synonymous SNV ENSG00000158296:ENST00000495082:exon5:c.G663A:p.P221P,ENSG00000158296:ENST00000279027:exon6:c.G804A:p.P268P,ENSG00000158296:ENST00000290317:exon6:c.G663A:p.P221P,ENSG00000158296:ENST00000396360:exon6:c.G663A:p.P221P,ENSG00000158296:ENST00000472148:exon6:c.G663A:p.P221P,ENSG00000158296:ENST00000468915:exon8:c.G663A:p.P221P NA NA 20q13.12 NA NA NA NA rs139819116 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004977 0.0005 . . . . . . . . 1.000 D . . . . -0.784 T 0.130 T . 0.91 8.703 -10.6 -3.351 -0.581 7.243 0.910273 NA NA 0 0.000454 ID=COSM189078;OCCURENCE=1(large_intestine) NA NA 8.6666168 1 1 1 19 21910313 21910313 C G exonic ZNF100 NA synonymous SNV ZNF100:NM_173531:exon5:c.G801C:p.G267G exonic ENSG00000197020 NA synonymous SNV ENSG00000197020:ENST00000305570:exon4:c.G609C:p.G203G,ENSG00000197020:ENST00000358296:exon5:c.G801C:p.G267G Score=366;Name=lod=41 NA 19p12 NA Name=ZNF274 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00005017 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.164785 NA NA NA NA NA NA NA 8.6666164 1 1 1 11 64876383 64876383 C T exonic VPS51 NA synonymous SNV VPS51:NM_013265:exon5:c.C1440T:p.F480F exonic ENSG00000149823 NA synonymous SNV ENSG00000149823:ENST00000279281:exon5:c.C1440T:p.F480F Score=585;Name=lod=317 NA 11q13.1 NA Name=ERalpha_a,c-Myc,p300,Pol2,GATA3_(SC-268),FOXA1_(C-20) Name=5 NA rs143862116 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00005185 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.386751 NA NA NA NA NA NA NA 8.6666148 1 1 1 12 133384698 133384698 C T exonic GOLGA3 NA synonymous SNV GOLGA3:NM_001172557:exon5:c.G957A:p.S319S,GOLGA3:NM_005895:exon5:c.G957A:p.S319S exonic ENSG00000090615 NA synonymous SNV ENSG00000090615:ENST00000450791:exon4:c.G957A:p.S319S,ENSG00000090615:ENST00000537452:exon4:c.G957A:p.S319S,ENSG00000090615:ENST00000204726:exon5:c.G957A:p.S319S,ENSG00000090615:ENST00000456883:exon5:c.G957A:p.S319S,ENSG00000090615:ENST00000545875:exon5:c.G957A:p.S319S Score=417;Name=lod=66 NA 12q24.33 Score=707;Name=V$NRSF_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00006016 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.589333 NA NA NA NA NA NA NA 8.6666064 14 2 1 7 20824833 20824833 G A exonic SP8 NA synonymous SNV SP8:NM_182700:exon2:c.C603T:p.H201H,SP8:NM_198956:exon3:c.C549T:p.H183H exonic ENSG00000164651 NA synonymous SNV ENSG00000164651:ENST00000418710:exon2:c.C603T:p.H201H,ENSG00000164651:ENST00000361443:exon3:c.C549T:p.H183H Score=715;Name=lod=1072 NA 7p21.1 Score=855;Name=V$CEBPB_02 Name=CTCF NA NA rs374176171 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.35515 NA 0 0.000138 0 NA NA NA 8.6663286 2 1 1 19 41307140 41307140 C T exonic EGLN2 NA synonymous SNV EGLN2:NM_053046:exon2:c.C663T:p.D221D,EGLN2:NM_080732:exon2:c.C663T:p.D221D exonic ENSG00000269858 NA synonymous SNV ENSG00000269858:ENST00000593726:exon1:c.C663T:p.D221D,ENSG00000269858:ENST00000303961:exon2:c.C663T:p.D221D,ENSG00000269858:ENST00000406058:exon2:c.C663T:p.D221D Score=577;Name=lod=296 NA 19q13.2 Score=743;Name=V$TAXCREB_02 Name=Pol2-4H8 NA NA rs150973573 0.0032 0.0032 NA 0.00199681 NA NA 0.0058 0.0045 NA NA NA 0.01 0.01 0.0007 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.041245 NA NA 0.000116 0.004087 ID=COSM1393896;OCCURENCE=1(large_intestine) NA NA 8.6658506 1 1 1 14 93299631 93299631 C T exonic GOLGA5 NA synonymous SNV GOLGA5:NM_005113:exon10:c.C1884T:p.S628S exonic ENSG00000066455 NA synonymous SNV ENSG00000066455:ENST00000163416:exon10:c.C1884T:p.S628S,ENSG00000066455:ENST00000355976:exon10:c.C1884T:p.S628S NA NA 14q32.12 NA NA NA NA rs371855374 NA NA NA 0.000399361 0.001 NA NA 0.0008 NA NA NA NA NA 0.0002 0.0005 . . . . . . . . 1.000 N . . . . -1.028 T 0.059 T . 1.413 10.66 -10.4 -2.363 -1.218 8.666 1.413176 1.413176 NA 0.000465 0 NA NA NA 8.6650016 3 2 1 14 21936855 21936855 T G exonic RAB2B NA synonymous SNV RAB2B:NM_001163380:exon3:c.A105C:p.G35G,RAB2B:NM_032846:exon4:c.A243C:p.G81G exonic ENSG00000129472 NA synonymous SNV ENSG00000129472:ENST00000397762:exon4:c.A243C:p.G81G Score=635;Name=lod=510 NA 14q11.2 Score=925;Name=V$LMO2COM_01 NA NA NA NA NA NA NA 0.00339457 NA NA NA NA 0.0174 NA NA NA NA 0.0018 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.508784 1.508784 NA NA NA NA NA NA 8.6648666 2 1 1 22 29704662 29704662 C T exonic GAS2L1 NA synonymous SNV GAS2L1:NM_152237:exon2:c.C567T:p.P189P exonic ENSG00000185340 NA synonymous SNV ENSG00000185340:ENST00000471961:exon1:c.C567T:p.P189P,ENSG00000185340:ENST00000341313:exon2:c.C567T:p.P189P,ENSG00000185340:ENST00000360113:exon2:c.C567T:p.P189P,ENSG00000185340:ENST00000403764:exon2:c.C567T:p.P189P,ENSG00000185340:ENST00000406549:exon2:c.C567T:p.P189P,ENSG00000185340:ENST00000407647:exon2:c.C567T:p.P189P,ENSG00000185340:ENST00000407854:exon2:c.C567T:p.P189P NA NA 22q12.2 NA Name=Egr-1 Name=5 NA NA NA NA NA 0.00119808 NA NA NA NA 0.0061 NA NA NA NA 0.0018 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.876715 NA NA NA NA NA NA NA 8.6648666 1 1 1 8 24771984 24771984 G T exonic NEFM NA synonymous SNV NEFM:NM_005382:exon1:c.G678T:p.S226S exonic ENSG00000104722 NA synonymous SNV ENSG00000104722:ENST00000221166:exon1:c.G678T:p.S226S,ENSG00000104722:ENST00000437366:exon1:c.G678T:p.S226S,ENSG00000104722:ENST00000518131:exon1:c.G678T:p.S226S Score=823;Name=lod=2949 NA 8p21.2 Score=855;Name=V$CHOP_01 NA Name=81 NA rs61735463 NA NA NA 0.00199681 0.001 NA NA 0.0068 NA NA NA NA NA 0.0008 0.0066 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.956319 NA NA 0.000465 0.006582 NA NA NA 8.6644016 3 2 2 12 56094816 56094816 C T exonic ITGA7 NA synonymous SNV ITGA7:NM_001144996:exon4:c.G537A:p.G179G,ITGA7:NM_001144997:exon4:c.G246A:p.G82G,ITGA7:NM_002206:exon4:c.G537A:p.G179G exonic ENSG00000135424 NA synonymous SNV ENSG00000135424:ENST00000557257:exon2:c.G63A:p.G21G,ENSG00000135424:ENST00000257879:exon4:c.G537A:p.G179G,ENSG00000135424:ENST00000257880:exon4:c.G537A:p.G179G,ENSG00000135424:ENST00000347027:exon4:c.G537A:p.G179G,ENSG00000135424:ENST00000394229:exon4:c.G537A:p.G179G,ENSG00000135424:ENST00000394230:exon4:c.G537A:p.G179G,ENSG00000135424:ENST00000452168:exon4:c.G246A:p.G82G,ENSG00000135424:ENST00000553804:exon4:c.G537A:p.G179G,ENSG00000135424:ENST00000555728:exon4:c.G537A:p.G179G Score=622;Name=lod=448 NA 12q13.2 Score=1000;Name=V$MZF1_01 Name=c-Jun NA NA rs145463677 0.0014 0.0014 0 0.000798722 0.002 NA 0.0014 NA 0.001 0.0026 NA 0.0028 NA 0.0008 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.593918 NA NA 0.001047 0.000454 NA NA NA 8.6628196 10 1 1 7 103969525 103969525 C T exonic LHFPL3 NA synonymous SNV LHFPL3:NM_199000:exon1:c.C298T:p.L100L exonic ENSG00000187416 NA synonymous SNV ENSG00000187416:ENST00000401970:exon1:c.C256T:p.L86L,ENSG00000187416:ENST00000424859:exon1:c.C256T:p.L86L,ENSG00000187416:ENST00000535008:exon1:c.C298T:p.L100L,ENSG00000187416:ENST00000543266:exon1:c.C298T:p.L100L Score=831;Name=lod=3182 NA 7q22.2 Score=786;Name=V$AHR_01 NA Name=3 NA rs185070516 0.0014 0.0014 NA 0.000599042 0.002 NA 0.0014 NA NA 0.0026 NA 0.0028 NA 0.0009 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.996819 NA NA 0.000952 0 NA NA NA 8.6628146 2 2 2 10 115804956 115804956 C A exonic ADRB1 NA synonymous SNV ADRB1:NM_000684:exon1:c.C1065A:p.P355P exonic ENSG00000043591 NA synonymous SNV ENSG00000043591:ENST00000369295:exon1:c.C1065A:p.P355P Score=747;Name=lod=1448 NA 10q25.3 NA Name=ELF1_(SC-631),PAX5-C20,Max Name=23 NA rs141633952 NA NA NA 0.000199681 NA NA NA NA 0.001 NA NA NA NA 0.002 0.0037 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.06735 NA NA 0.003743 0.000912 NA NA NA 8.6609236 1 1 1 19 12975884 12975884 C T exonic MAST1 NA synonymous SNV MAST1:NM_014975:exon14:c.C1530T:p.H510H exonic ENSG00000105613 NA synonymous SNV ENSG00000105613:ENST00000251472:exon14:c.C1530T:p.H510H Score=542;Name=lod=212 NA 19p13.2 Score=802;Name=V$XBP1_01 Name=TCF4 NA NA rs35952311 0 0 NA 0.00259585 0.003 NA 0.0014 NA 0.0092 NA NA NA NA 0.0043 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.556803 NA NA 0.006628 0.001362 NA 0.007 NA 8.6527386 1 1 1 6 33281505 33281505 C A exonic TAPBP NA synonymous SNV TAPBP:NM_003190:exon2:c.G174T:p.P58P,TAPBP:NM_172208:exon2:c.G174T:p.P58P,TAPBP:NM_172209:exon2:c.G174T:p.P58P exonic ENSG00000231925 NA synonymous SNV ENSG00000231925:ENST00000426633:exon2:c.G174T:p.P58P,ENSG00000231925:ENST00000434618:exon2:c.G174T:p.P58P,ENSG00000231925:ENST00000456592:exon2:c.G174T:p.P58P,ENSG00000231925:ENST00000475304:exon2:c.G174T:p.P58P,ENSG00000231925:ENST00000489157:exon2:c.G174T:p.P58P NA NA 6p21.32 Score=829;Name=V$EGR1_01 Name=EBF,BAF155,EBF1_(C-8),CEBPB,Pol2,TBP Name=111 NA rs45501592 0.0014 0.0014 0.003 0.00339457 0.0089 NA 0.0029 0.0008 0.0051 0.004 NA NA NA 0.0051 0.0076 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.104785 NA NA 0.007572 0.001366 NA NA NA 8.6450946 2 2 2 6 72967952 72967952 G A exonic RIMS1 NA synonymous SNV RIMS1:NM_001168407:exon12:c.G1314A:p.P438P,RIMS1:NM_001168408:exon12:c.G1317A:p.P439P,RIMS1:NM_001168409:exon12:c.G1074A:p.P358P,RIMS1:NM_001168410:exon12:c.G1272A:p.P424P,RIMS1:NM_014989:exon17:c.G2895A:p.P965P exonic ENSG00000079841 NA synonymous SNV ENSG00000079841:ENST00000370420:exon5:c.G570A:p.P190P,ENSG00000079841:ENST00000401910:exon12:c.G1314A:p.P438P,ENSG00000079841:ENST00000425662:exon12:c.G1074A:p.P358P,ENSG00000079841:ENST00000453976:exon12:c.G1074A:p.P358P,ENSG00000079841:ENST00000517827:exon12:c.G1272A:p.P424P,ENSG00000079841:ENST00000523963:exon12:c.G1317A:p.P439P,ENSG00000079841:ENST00000264839:exon17:c.G2895A:p.P965P,ENSG00000079841:ENST00000348717:exon17:c.G2892A:p.P964P,ENSG00000079841:ENST00000491071:exon17:c.G2895A:p.P965P,ENSG00000079841:ENST00000517960:exon17:c.G2892A:p.P964P,ENSG00000079841:ENST00000518273:exon17:c.G2895A:p.P965P,ENSG00000079841:ENST00000520567:exon17:c.G2892A:p.P964P,ENSG00000079841:ENST00000521978:exon17:c.G2895A:p.P965P,ENSG00000079841:ENST00000522291:exon17:c.G2892A:p.P964P Score=697;Name=lod=907 NA 6q13 NA NA NA NA rs41265493 0.0046 0.0046 0.004 0.00479233 0.0139 NA 0.0014 NA 0.0092 0.01 NA 0.0028 NA 0.0079 0.011 . . . . . . . . 1.000 D . . . . -1.027 T 0.061 T . 0.898 8.65 -0.137 -0.036 0.388 1.888 0.898107 NA NA 0.009768 0.002564 NA 0.007 NA 8.6350986 2 1 1 2 182766624 182766624 C A exonic SSFA2 NA nonsynonymous SNV SSFA2:NM_001130445:exon8:c.C844A:p.P282T,SSFA2:NM_006751:exon8:c.C844A:p.P282T exonic ENSG00000138434 NA nonsynonymous SNV ENSG00000138434:ENST00000428267:exon7:c.C385A:p.P129T,ENSG00000138434:ENST00000320370:exon8:c.C844A:p.P282T,ENSG00000138434:ENST00000409001:exon8:c.C844A:p.P282T,ENSG00000138434:ENST00000431877:exon8:c.C844A:p.P282T NA NA 2q31.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.69 T 0.0 B 0.001 B 0.415 N 0.960 N 0.345 N 2.76 T -0.976 T 0.017 T 0.147 -0.083 3.594 1.56 0.080 0.228 0.793 -0.08308 NA 0.29 NA NA NA NA NA 8.3333334 6 2 2 1 33292442 33292442 C T exonic S100PBP NA nonsynonymous SNV S100PBP:NM_001256121:exon3:c.C742T:p.P248S,S100PBP:NM_022753:exon3:c.C742T:p.P248S exonic ENSG00000116497 NA nonsynonymous SNV ENSG00000116497:ENST00000373475:exon3:c.C742T:p.P248S,ENSG00000116497:ENST00000373476:exon3:c.C742T:p.P248S,ENSG00000116497:ENST00000398243:exon3:c.C742T:p.P248S NA NA 1p35.1 NA NA NA NA rs146571632 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 0.0005 . . 0.043 B 0.029 B 0.000 N 1.000 N 0.805 L . . -1.043 T 0.060 T 0.098 1.128 9.597 2.62 0.372 0.074 5.549 1.127564 NA 0 0 0.000454 NA NA NA 8.3332334 1 1 1 14 99183532 99183532 C T exonic C14orf177 NA nonsynonymous SNV C14orf177:NM_182560:exon4:c.C299T:p.S100L exonic ENSG00000176605 NA nonsynonymous SNV ENSG00000176605:ENST00000325812:exon4:c.C299T:p.S100L NA NA 14q32.2 NA NA NA NA rs143969442 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 0.0005 0 D 0.0 B 0.0 B . . 1.000 N 0 N 1.14 T -1.028 T 0.040 T 0.064 1.225 9.968 -0.782 -0.137 -0.077 4.252 1.224784 NA NA 0.000465 0.000227 ID=COSM355766;OCCURENCE=1(lung) NA NA 8.3326684 1 1 1 12 9256972 9256972 C T exonic A2M NA nonsynonymous SNV A2M:NM_000014:exon11:c.G1129A:p.V377I exonic ENSG00000175899 NA nonsynonymous SNV ENSG00000175899:ENST00000318602:exon11:c.G1129A:p.V377I NA NA 12p13.31 NA NA NA NA rs200364039 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0008 0.0004 0.19 T 0.051 B 0.006 B 0.861 N 1.000 N 1.575 L 1.64 T -1.004 T 0.068 T 0.032 0.621 7.34 0.749 -0.061 -1.206 8.160 0.620724 NA 0.19 0.000365 0 NA NA NA 8.3321684 8 2 1 15 29346257 29346257 C T exonic APBA2 NA nonsynonymous SNV APBA2:NM_001130414:exon3:c.C170T:p.A57V,APBA2:NM_005503:exon3:c.C170T:p.A57V exonic ENSG00000034053 NA nonsynonymous SNV ENSG00000034053:ENST00000558358:exon2:c.C170T:p.A57V,ENSG00000034053:ENST00000411764:exon3:c.C170T:p.A57V,ENSG00000034053:ENST00000558259:exon3:c.C170T:p.A57V,ENSG00000034053:ENST00000560283:exon3:c.C170T:p.A57V,ENSG00000034053:ENST00000558804:exon4:c.C170T:p.A57V,ENSG00000034053:ENST00000561069:exon4:c.C170T:p.A57V,ENSG00000034053:ENST00000558330:exon5:c.C170T:p.A57V,ENSG00000034053:ENST00000558402:exon5:c.C170T:p.A57V Score=313;Name=lod=25 NA 15q13.1 NA NA NA NA rs141358568 0.0014 0.0014 NA 0.000798722 0.001 NA 0.0043 NA NA NA NA 0.01 NA 0.0004 0.01 0.15 T 0.0 B 0.001 B 0.607 N 1.000 N -0.41 N 1.02 T -1.027 T 0.040 T 0.188 0.444 6.412 1.71 0.360 -0.285 9.187 0.444058 NA 0.28 0.000698 0.000681 ID=COSM268249;OCCURENCE=1(ovary),1(large_intestine),1(endometrium) NA NA 8.3312354 1 1 1 11 63487782 63487782 C T exonic RTN3 NA nonsynonymous SNV RTN3:NM_001265590:exon2:c.C1472T:p.P491L,RTN3:NM_201428:exon2:c.C1751T:p.P584L,RTN3:NM_001265589:exon3:c.C1808T:p.P603L exonic ENSG00000133318 NA nonsynonymous SNV ENSG00000133318:ENST00000339997:exon2:c.C1751T:p.P584L,ENSG00000133318:ENST00000540798:exon2:c.C1472T:p.P491L,ENSG00000133318:ENST00000377819:exon3:c.C1808T:p.P603L NA NA 11q13.1 NA NA Name=49 NA rs116807490 0.01 0.01 0.007 0.00858626 NA NA 0.0029 0.031 NA NA NA 0.01 0.02 0.0021 0.022 0.41 T 0.021 B 0.013 B 0.025 N 1.000 N 0.145 N 1.98 T -1.023 T 0.015 T 0.048 1.417 10.68 0.155 -0.045 0.003 7.713 1.417322 1.417322 0.45 0 0.021808 NA 0.014 NA 8.3312334 1 1 1 14 24705004 24705004 G T exonic GMPR2 NA nonsynonymous SNV GMPR2:NM_016576:exon3:c.G323T:p.G108V,GMPR2:NM_001002000:exon4:c.G269T:p.G90V,GMPR2:NM_001002001:exon4:c.G269T:p.G90V,GMPR2:NM_001002002:exon4:c.G269T:p.G90V exonic ENSG00000100938 NA nonsynonymous SNV ENSG00000100938:ENST00000348719:exon3:c.G269T:p.G90V,ENSG00000100938:ENST00000420554:exon3:c.G323T:p.G108V,ENSG00000100938:ENST00000557854:exon3:c.G323T:p.G108V,ENSG00000100938:ENST00000558279:exon3:c.G107T:p.G36V,ENSG00000100938:ENST00000559104:exon3:c.G323T:p.G108V,ENSG00000100938:ENST00000355299:exon4:c.G269T:p.G90V,ENSG00000100938:ENST00000399440:exon4:c.G269T:p.G90V,ENSG00000100938:ENST00000559409:exon4:c.G257T:p.G86V,ENSG00000100938:ENST00000559836:exon4:c.G269T:p.G90V,ENSG00000100938:ENST00000559910:exon4:c.G269T:p.G90V,ENSG00000100938:ENST00000560139:exon4:c.G269T:p.G90V,ENSG00000100938:ENST00000561035:exon5:c.G398T:p.G133V NA NA 14q12 Score=830;Name=V$MRF2_01 NA NA NA rs45530636 0.0005 0.0005 NA 0.000599042 0.001 NA 0.0014 NA 0.001 NA NA 0.0028 NA 0.0003 0.0028 0.23 T 0.004 B 0.017 B 0.415 N 1.000 N -0.345 N -1.13 T -0.985 T 0.152 T 0.428 1.998 12.64 -0.053 0.235 0.842 2.511 1.997776 1.997776 0.14 0.000843 0 NA NA NA 8.3311904 1 1 1 12 125299559 125299559 G A exonic SCARB1 NA nonsynonymous SNV SCARB1:NM_001082959:exon3:c.C386T:p.S129L,SCARB1:NM_005505:exon3:c.C386T:p.S129L exonic ENSG00000073060 NA nonsynonymous SNV ENSG00000073060:ENST00000544327:exon2:c.C224T:p.S75L,ENSG00000073060:ENST00000261693:exon3:c.C386T:p.S129L,ENSG00000073060:ENST00000339570:exon3:c.C386T:p.S129L,ENSG00000073060:ENST00000415380:exon3:c.C386T:p.S129L,ENSG00000073060:ENST00000540495:exon3:c.C275T:p.S92L,ENSG00000073060:ENST00000541205:exon3:c.C263T:p.S88L,ENSG00000073060:ENST00000545493:exon3:c.C386T:p.S129L,ENSG00000073060:ENST00000546215:exon3:c.C386T:p.S129L NA NA 12q24.31 NA NA NA NA rs150222965 0.0005 0.0005 NA 0.00199681 NA NA 0.0029 NA 0.0082 NA NA 0.0028 NA 0.0028 0.0028 0.19 T 0.047 B 0.016 B 0.363 N 1.000 N 1.12 L -0.65 T -0.962 T 0.197 T 0.055 1.224 9.966 -4.44 -0.743 -0.241 5.646 1.224264 NA 0.16 0.001977 0.001135 NA NA NA 8.3285564 2 1 1 9 130479638 130479638 G A exonic TTC16 NA nonsynonymous SNV TTC16:NM_144965:exon3:c.G217A:p.E73K exonic ENSG00000167094 NA nonsynonymous SNV ENSG00000167094:ENST00000373289:exon3:c.G217A:p.E73K NA NA 9q34.11 NA NA NA NA rs139753825 0.0005 0.0005 NA 0.000798722 0.002 NA 0.0029 NA NA 0.0013 NA NA NA 0.0011 0.0019 0.65 T 0.925 P 0.626 P 0.096 N 1.000 N 1.115 L 0.66 T -0.983 T 0.102 T 0.146 2.39 13.95 0.107 0.120 0.069 7.592 2.38965 2.38965 0.66 0.00186 0 NA NA NA 8.3283734 1 1 1 17 61898459 61898459 C T exonic FTSJ3 NA nonsynonymous SNV FTSJ3:NM_017647:exon17:c.G1903A:p.G635S exonic ENSG00000108592 NA nonsynonymous SNV ENSG00000108592:ENST00000427159:exon17:c.G1903A:p.G635S NA NA 17q23.3 NA Name=Pol2 NA NA rs141577537 0.0014 0.0014 NA 0.000599042 0.002 NA 0.0014 NA NA 0.0026 NA 0.0028 NA 0.0012 0.0028 0.77 T 0.001 B 0.018 B 0.054 N 1.000 N 0 N 1.58 T -0.997 T 0.026 T 0.116 1.825 12.06 -0.723 -0.226 -0.134 4.568 1.824566 1.824566 0.19 0.002209 0.000227 NA NA NA 8.3279244 9 1 1 2 113831941 113831941 G A exonic IL1F10 NA nonsynonymous SNV IL1F10:NM_032556:exon2:c.G68A:p.R23K,IL1F10:NM_173161:exon3:c.G68A:p.R23K exonic ENSG00000136697 NA nonsynonymous SNV ENSG00000136697:ENST00000393197:exon2:c.G68A:p.R23K,ENSG00000136697:ENST00000341010:exon3:c.G68A:p.R23K NA NA 2q13 NA NA NA NA rs72827872 0.0005 0.0005 NA 0.00199681 0.001 NA 0.0043 NA 0.0061 NA NA 0.0028 NA 0.0036 0.0048 0.58 T 0.001 B 0.001 B 0.026 N 1.000 N 1.445 L 1.38 T -1.030 T 0.085 T 0.109 0.47 6.549 2.8 0.641 0.779 7.568 0.469618 NA 0.09 0.004767 0.001135 NA 0.065 NA 8.3239664 2 1 1 22 38109227 38109227 C G exonic TRIOBP NA nonsynonymous SNV TRIOBP:NM_001039141:exon5:c.C265G:p.P89A exonic ENSG00000100106 NA nonsynonymous SNV ENSG00000100106:ENST00000406386:exon5:c.C265G:p.P89A NA NA 22q13.1 NA NA NA NA rs199646135 0.0009 0.0009 NA 0.000798722 NA NA 0.0043 0.0008 NA NA NA 0.01 NA 0.0049 0.01 0 D 0.02 B 0.008 B . . 1.000 N 0.695 N 2.03 T -1.004 T 0.021 T 0.21 1.453 10.8 -0.516 -0.048 0.408 4.03 1.453221 1.453221 0 0.008017 0.000529 NA NA NA 8.3204164 7 1 1 8 110457592 110457592 C T exonic PKHD1L1 NA nonsynonymous SNV PKHD1L1:NM_177531:exon38:c.C5494T:p.P1832S exonic ENSG00000205038 NA nonsynonymous SNV ENSG00000205038:ENST00000378402:exon38:c.C5494T:p.P1832S NA NA 8q23.1 NA NA NA NA rs148982821 0.0023 0.0023 0.002 0.00139776 0.007 NA NA NA NA 0.01 NA 0.0028 NA 0.0023 0.01 0.58 T 0.0 B 0.002 B 0.031 N 1.000 N -0.805 N -2.39 D -0.829 T 0.199 T 0.122 -0.441 1.951 0.58 0.145 0.518 4.534 -0.441195 NA 0.08 0.003754 0.000517 NA NA NA 8.3202794 15 3 1 11 113267947 113267947 C A exonic ANKK1 NA nonsynonymous SNV ANKK1:NM_178510:exon6:c.C840A:p.D280E exonic ENSG00000170209 NA nonsynonymous SNV ENSG00000170209:ENST00000303941:exon6:c.C840A:p.D280E Score=304;Name=lod=23 NA 11q23.2 NA NA NA NA rs138608171 0.0018 0.0018 0.002 0.000998403 0.005 NA NA NA NA 0.01 NA NA NA 0.0031 0.01 0.87 T 0.079 B 0.063 B 0.234 N 0.999 N -0.32 N 1.56 T -0.996 T 0.016 T 0.087 -0.222 2.925 -0.612 0.017 0.158 3.197 -0.22226 NA 0.72 0.005347 0.000476 NA NA NA 8.3198864 7 1 1 12 49724153 49724153 T A exonic TROAP NA nonsynonymous SNV TROAP:NM_005480:exon13:c.T1525A:p.C509S exonic ENSG00000135451 NA nonsynonymous SNV ENSG00000135451:ENST00000547923:exon7:c.T649A:p.C217S,ENSG00000135451:ENST00000257909:exon13:c.T1525A:p.C509S,ENSG00000135451:ENST00000551245:exon13:c.T1525A:p.C509S NA NA 12q13.12 NA NA NA NA rs143183472 0.0018 0.0018 0.001 0.00219649 0.004 NA NA NA 0.0072 0.01 NA NA NA 0.0066 0.01 0.82 T 0.103 B 0.058 B 0.062 N 1.000 N 1.24 L . . -1.026 T 0.051 T 0.169 1.225 9.971 -5.91 -0.919 -0.547 7.711 1.225472 NA 0.87 0.007093 0.000681 NA NA NA 8.3156404 4 1 1 1 225152253 225152253 C T exonic DNAH14 NA nonsynonymous SNV DNAH14:NM_001145154:exon5:c.C440T:p.P147L,DNAH14:NM_001373:exon5:c.C440T:p.P147L,DNAH14:NM_144989:exon5:c.C440T:p.P147L exonic ENSG00000185842 NA nonsynonymous SNV ENSG00000185842:ENST00000366848:exon4:c.C440T:p.P147L,ENSG00000185842:ENST00000439375:exon4:c.C440T:p.P147L,ENSG00000185842:ENST00000366849:exon5:c.C440T:p.P147L,ENSG00000185842:ENST00000366850:exon5:c.C440T:p.P147L,ENSG00000185842:ENST00000400952:exon5:c.C440T:p.P147L,ENSG00000185842:ENST00000430092:exon5:c.C440T:p.P147L,ENSG00000185842:ENST00000445597:exon6:c.C821T:p.P274L NA NA 1q42.12 NA NA NA NA rs41267349 0.0027 0.0027 NA 0.00359425 0.0089 NA 0.0043 0.0038 0.001 0.01 NA 0.0028 NA 0.0059 0.01 0.06 T 0.059 B 0.027 B 0.717 N 1.000 N . . 2.27 T -1.027 T 0.037 T 0.274 1.792 11.95 0.603 0.254 1.321 2.194 1.792051 1.792051 0.08 0.006522 0.003625 NA NA NA 8.3120114 3 1 1 19 3551125 3551125 C T exonic MFSD12 NA synonymous SNV MFSD12:NM_001042680:exon2:c.G366A:p.T122T,MFSD12:NM_021731:exon2:c.G366A:p.T122T,MFSD12:NM_174983:exon2:c.G366A:p.T122T exonic ENSG00000161091 NA nonsynonymous SNV ENSG00000161091:ENST00000585814:exon2:c.G97A:p.A33T NA NA 19p13.3 Score=808;Name=V$PAX5_01 Name=Pol2 NA NA rs61733854 0.0023 0.0023 NA 0.00159744 0.007 NA 0.0014 NA NA 0.01 NA NA NA 0.0069 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.060997 NA NA 0.006691 0.001705 NA NA NA 7.979409 4 2 1 3 9970088 9970088 C T exonic IL17RC NA nonsynonymous SNV IL17RC:NM_001203265:exon10:c.C932T:p.A311V,IL17RC:NM_032732:exon10:c.C932T:p.A311V,IL17RC:NM_001203263:exon11:c.C977T:p.A326V,IL17RC:NM_001203264:exon11:c.C977T:p.A326V,IL17RC:NM_153460:exon11:c.C977T:p.A326V,IL17RC:NM_153461:exon11:c.C1190T:p.A397V exonic ENSG00000163702 NA nonsynonymous SNV ENSG00000163702:ENST00000416074:exon9:c.C545T:p.A182V,ENSG00000163702:ENST00000438091:exon9:c.C857T:p.A286V,ENSG00000163702:ENST00000383812:exon10:c.C932T:p.A311V,ENSG00000163702:ENST00000436503:exon10:c.C902T:p.A301V,ENSG00000163702:ENST00000455057:exon10:c.C932T:p.A311V,ENSG00000163702:ENST00000295981:exon11:c.C1190T:p.A397V,ENSG00000163702:ENST00000403601:exon11:c.C977T:p.A326V,ENSG00000163702:ENST00000413608:exon11:c.C977T:p.A326V NA NA 3p25.3 NA NA NA NA rs11719981 NA NA NA 0.000798722 NA 0.001 0.0014 NA 0.002 NA NA NA NA 0.0017 0.0017 0.79 T 0.462 P 0.023 B 0.617 N 1.000 N 0.035 N 2.49 T -0.978 T 0.011 T 0.282 -0.631 1.205 -0.082 0.140 0.280 3.667 -0.631326 NA 0.51 0.001746 0.000909 NA NA NA 7.8298874 4 1 1 7 99704892 99704892 C T exonic TAF6 NA nonsynonymous SNV TAF6:NM_001190415:exon15:c.G2122A:p.G708S,TAF6:NM_005641:exon15:c.G2011A:p.G671S,TAF6:NM_139315:exon15:c.G2011A:p.G671S exonic ENSG00000106290 NA nonsynonymous SNV ENSG00000106290:ENST00000418432:exon14:c.G1783A:p.G595S,ENSG00000106290:ENST00000472509:exon14:c.G2182A:p.G728S,ENSG00000106290:ENST00000344095:exon15:c.G2011A:p.G671S,ENSG00000106290:ENST00000437822:exon15:c.G2122A:p.G708S,ENSG00000106290:ENST00000452041:exon15:c.G2011A:p.G671S,ENSG00000106290:ENST00000453269:exon15:c.G2011A:p.G671S NA NA 7q22.1 NA NA NA NA rs146348021 0.0014 0.0014 NA 0.00139776 0.003 NA 0.0058 NA NA NA NA 0.01 NA 0.0036 0.01 0.83 T 0.6 P 0.208 B 0.006 N 0.867 N 0 N 0.93 T -1.004 T 0.028 T 0.279 2.498 14.31 1.01 0.310 -0.099 6.766 2.498076 2.498076 0.3 0.005139 0.000459 NA NA NA 7.8215944 1 1 1 10 134218287 134218287 G A exonic PWWP2B NA nonsynonymous SNV PWWP2B:NM_001098637:exon2:c.G283A:p.E95K,PWWP2B:NM_138499:exon2:c.G283A:p.E95K exonic ENSG00000171813 NA nonsynonymous SNV ENSG00000171813:ENST00000305233:exon2:c.G283A:p.E95K,ENSG00000171813:ENST00000368609:exon2:c.G283A:p.E95K NA NA 10q26.3 NA NA NA NA rs199872085 0.0037 0.0037 NA 0.00139776 0.003 NA 0.0029 0.0008 0.001 0.01 NA 0.0028 0.01 0.0048 0.01 0.5 T 0.892 P 0.163 B 0.265 N 1.000 N -0.14 N 1.55 T -1.055 T 0.043 T 0.025 1.615 11.36 -0.469 -0.240 0.286 6.863 1.614637 1.614637 0.39 0.004903 0.000744 NA NA NA 7.8206304 3 1 1 1 158906715 158906715 C T exonic PYHIN1 NA synonymous SNV PYHIN1:NM_152501:exon2:c.C15T:p.Y5Y,PYHIN1:NM_198928:exon2:c.C15T:p.Y5Y,PYHIN1:NM_198929:exon2:c.C15T:p.Y5Y,PYHIN1:NM_198930:exon2:c.C15T:p.Y5Y exonic ENSG00000163564 NA synonymous SNV ENSG00000163564:ENST00000368135:exon2:c.C15T:p.Y5Y,ENSG00000163564:ENST00000368138:exon2:c.C15T:p.Y5Y,ENSG00000163564:ENST00000368140:exon2:c.C15T:p.Y5Y,ENSG00000163564:ENST00000392252:exon2:c.C15T:p.Y5Y,ENSG00000163564:ENST00000392254:exon2:c.C15T:p.Y5Y,ENSG00000163564:ENST00000458222:exon3:c.C15T:p.Y5Y NA NA 1q23.1 Score=891;Name=V$EVI1_06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.838178 NA NA NA NA NA NA NA 7.6666666 1 1 1 2 55476582 55476582 T C exonic MTIF2 NA synonymous SNV MTIF2:NM_002453:exon9:c.A930G:p.V310V,MTIF2:NM_001005369:exon10:c.A930G:p.V310V exonic ENSG00000085760 NA synonymous SNV ENSG00000085760:ENST00000403721:exon8:c.A930G:p.V310V,ENSG00000085760:ENST00000263629:exon9:c.A930G:p.V310V,ENSG00000085760:ENST00000394600:exon10:c.A930G:p.V310V NA NA 2p16.1 Score=824;Name=V$PAX3_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.408705 1.408705 NA NA NA NA NA NA 7.6666666 2 1 1 2 120849134 120849134 G A exonic EPB41L5 NA synonymous SNV EPB41L5:NM_001184937:exon13:c.G1047A:p.G349G,EPB41L5:NM_001184938:exon13:c.G1047A:p.G349G,EPB41L5:NM_001184939:exon13:c.G1047A:p.G349G,EPB41L5:NM_020909:exon13:c.G1047A:p.G349G exonic ENSG00000115109 NA synonymous SNV ENSG00000115109:ENST00000452780:exon12:c.G1047A:p.G349G,ENSG00000115109:ENST00000263713:exon13:c.G1047A:p.G349G,ENSG00000115109:ENST00000331393:exon13:c.G1047A:p.G349G,ENSG00000115109:ENST00000443124:exon13:c.G1047A:p.G349G,ENSG00000115109:ENST00000443902:exon13:c.G1047A:p.G349G Score=587;Name=lod=325 NA 2q14.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.899925 NA NA NA NA NA NA NA 7.6666666 2 1 1 6 51893037 51893037 G T exonic PKHD1 NA synonymous SNV PKHD1:NM_138694:exon30:c.C3477A:p.G1159G,PKHD1:NM_170724:exon30:c.C3477A:p.G1159G exonic ENSG00000170927 NA synonymous SNV ENSG00000170927:ENST00000340994:exon30:c.C3477A:p.G1159G,ENSG00000170927:ENST00000371117:exon30:c.C3477A:p.G1159G Score=309;Name=lod=24 NA 6p12.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.553054 NA NA NA NA NA NA NA 7.6666666 10 1 1 7 20449239 20449239 A G exonic ITGB8 NA synonymous SNV ITGB8:NM_002214:exon13:c.A2025G:p.E675E exonic ENSG00000105855 NA synonymous SNV ENSG00000105855:ENST00000222573:exon13:c.A2025G:p.E675E,ENSG00000105855:ENST00000537992:exon14:c.A1620G:p.E540E Score=632;Name=lod=494 NA 7p21.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.863262 NA NA NA NA NA NA NA 7.6666666 5 1 1 9 2039575 2039575 C T exonic SMARCA2 NA synonymous SNV SMARCA2:NM_003070:exon4:c.C465T:p.A155A,SMARCA2:NM_139045:exon4:c.C465T:p.A155A exonic ENSG00000080503 NA synonymous SNV ENSG00000080503:ENST00000382194:exon3:c.C465T:p.A155A,ENSG00000080503:ENST00000349721:exon4:c.C465T:p.A155A,ENSG00000080503:ENST00000357248:exon4:c.C465T:p.A155A,ENSG00000080503:ENST00000382203:exon4:c.C465T:p.A155A,ENSG00000080503:ENST00000450198:exon4:c.C465T:p.A155A Score=460;Name=lod=99 NA 9p24.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.494421 1.494421 NA NA NA NA NA NA 7.6666666 9 2 2 3 47088028 47088028 G A exonic SETD2 NA synonymous SNV SETD2:NM_014159:exon16:c.C7047T:p.A2349A exonic ENSG00000181555 NA synonymous SNV ENSG00000181555:ENST00000409792:exon16:c.C7047T:p.A2349A NA NA 3p21.31 Score=855;Name=V$AP4_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00000824 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.726036 NA NA NA NA NA NA NA 7.6666584 5 1 1 16 2813961 2813961 A T exonic SRRM2 NA synonymous SNV SRRM2:NM_016333:exon11:c.A3432T:p.S1144S exonic ENSG00000167978 NA synonymous SNV ENSG00000167978:ENST00000301740:exon11:c.A3432T:p.S1144S NA NA 16p13.3 NA Name=Pol2(phosphoS2) NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008264 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.760836 NA NA NA NA NA NA NA 7.6666583 2 2 1 17 79164752 79164752 C T exonic AZI1 NA synonymous SNV AZI1:NM_001009811:exon22:c.G2790A:p.Q930Q,AZI1:NM_014984:exon23:c.G2898A:p.Q966Q exonic ENSG00000141577 NA synonymous SNV ENSG00000141577:ENST00000573053:exon10:c.G1230A:p.Q410Q,ENSG00000141577:ENST00000374782:exon22:c.G2790A:p.Q930Q,ENSG00000141577:ENST00000575907:exon22:c.G2799A:p.Q933Q,ENSG00000141577:ENST00000269392:exon23:c.G2907A:p.Q969Q,ENSG00000141577:ENST00000450824:exon23:c.G2898A:p.Q966Q Score=358;Name=lod=38 NA 17q25.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008514 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.850059 NA NA NA NA NA NA NA 7.6666581 7 1 1 11 64137218 64137218 C T exonic RPS6KA4 NA synonymous SNV RPS6KA4:NM_001006944:exon14:c.C1632T:p.I544I,RPS6KA4:NM_003942:exon14:c.C1650T:p.I550I exonic ENSG00000162302 NA synonymous SNV ENSG00000162302:ENST00000334205:exon14:c.C1650T:p.I550I,ENSG00000162302:ENST00000528057:exon14:c.C1629T:p.I543I,ENSG00000162302:ENST00000530504:exon14:c.C1584T:p.I528I Score=561;Name=lod=253 NA 11q13.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00000932 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.402342 1.402342 NA NA NA NA NA NA 7.6666573 4 1 1 16 1810459 1810459 C T exonic MAPK8IP3 NA synonymous SNV MAPK8IP3:NM_001040439:exon11:c.C1362T:p.G454G,MAPK8IP3:NM_015133:exon12:c.C1380T:p.G460G exonic ENSG00000138834 NA synonymous SNV ENSG00000138834:ENST00000356010:exon11:c.C1362T:p.G454G,ENSG00000138834:ENST00000250894:exon12:c.C1380T:p.G460G Score=549;Name=lod=228 NA 16p13.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00004151 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.711969 NA NA NA NA NA NA NA 7.6666251 9 1 1 3 97680493 97680493 C A exonic MINA NA synonymous SNV MINA:NM_001042533:exon3:c.G492T:p.S164S,MINA:NM_001261829:exon3:c.G492T:p.S164S,MINA:NM_032778:exon3:c.G492T:p.S164S,MINA:NM_153182:exon3:c.G492T:p.S164S exonic ENSG00000170854 NA synonymous SNV ENSG00000170854:ENST00000507612:exon1:c.G30T:p.S10S,ENSG00000170854:ENST00000514314:exon2:c.G492T:p.S164S,ENSG00000170854:ENST00000330299:exon3:c.G492T:p.S164S,ENSG00000170854:ENST00000333396:exon3:c.G492T:p.S164S,ENSG00000170854:ENST00000360258:exon3:c.G492T:p.S164S,ENSG00000170854:ENST00000394198:exon3:c.G492T:p.S164S NA NA 3q11.2 Score=828;Name=V$FREAC4_01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0000579 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.212759 NA NA NA NA NA NA NA 7.6666087 2 1 1 3 48699636 48699636 C T exonic CELSR3 NA synonymous SNV CELSR3:NM_001407:exon1:c.G432A:p.R144R exonic ENSG00000008300 NA synonymous SNV ENSG00000008300:ENST00000164024:exon1:c.G432A:p.R144R,ENSG00000008300:ENST00000544264:exon1:c.G432A:p.R144R NA NA 3p21.31 NA Name=NRSF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00006836 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.179707 NA NA NA NA NA NA NA 7.6665982 3 2 2 15 27572153 27572153 C T exonic GABRG3 NA synonymous SNV GABRG3:NM_001270873:exon4:c.C468T:p.D156D,GABRG3:NM_033223:exon4:c.C468T:p.D156D exonic ENSG00000182256 NA synonymous SNV ENSG00000182256:ENST00000554696:exon2:c.C294T:p.D98D,ENSG00000182256:ENST00000333743:exon4:c.C468T:p.D156D,ENSG00000182256:ENST00000555083:exon4:c.C468T:p.D156D Score=512;Name=lod=161 NA 15q12 Score=805;Name=V$PBX1_02 NA NA NA rs376676320 NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA 0.0003 0.0003 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.536718 NA NA 0 0.000257 ID=COSM1372205;OCCURENCE=1(large_intestine) NA NA 7.6663666 4 1 1 8 69104722 69104722 C T exonic PREX2 NA synonymous SNV PREX2:NM_024870:exon37:c.C4566T:p.G1522G exonic ENSG00000046889 NA synonymous SNV ENSG00000046889:ENST00000288368:exon37:c.C4566T:p.G1522G NA NA 8q13.2 NA Name=HA-E2F1,E2F6_(H-50) Name=6 NA rs61753705 0.0009 0.0009 NA 0.000399361 NA NA 0.0029 NA NA NA NA 0.01 NA 0.0004 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.632216 NA NA NA NA NA NA NA 7.6662666 9 3 1 5 148689617 148689617 C T exonic AFAP1L1 NA synonymous SNV AFAP1L1:NM_001146337:exon8:c.C846T:p.H282H,AFAP1L1:NM_152406:exon8:c.C846T:p.H282H exonic ENSG00000157510 NA synonymous SNV ENSG00000157510:ENST00000296721:exon8:c.C846T:p.H282H,ENSG00000157510:ENST00000515000:exon8:c.C846T:p.H282H Score=587;Name=lod=325 NA 5q32 Score=956;Name=V$AP4_Q5 NA NA NA rs139614291 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0001 0.0005 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.152516 NA NA 0.000349 0.000454 NA NA NA 7.6662176 2 1 1 19 18123757 18123757 G A exonic ARRDC2 NA synonymous SNV ARRDC2:NM_001025604:exon8:c.G1191A:p.P397P,ARRDC2:NM_015683:exon8:c.G1206A:p.P402P exonic ENSG00000105643 NA synonymous SNV ENSG00000105643:ENST00000222250:exon8:c.G1206A:p.P402P,ENSG00000105643:ENST00000379656:exon8:c.G1191A:p.P397P Score=470;Name=lod=108 NA 19p13.11 Score=964;Name=V$TCF11_01 NA NA NA rs140570800 NA NA NA 0.000199681 NA NA 0.0014 NA NA NA NA NA NA 0.0002 0.0003 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.279701 NA NA 0.000349 0 NA NA NA 7.6661176 1 1 1 9 114131316 114131316 T C exonic KIAA0368 NA synonymous SNV KIAA0368:NM_001080398:exon47:c.A5646G:p.Q1882Q exonic ENSG00000136813 NA synonymous SNV ENSG00000136813:ENST00000338205:exon45:c.A5112G:p.Q1704Q,ENSG00000136813:ENST00000259335:exon47:c.A5646G:p.Q1882Q Score=443;Name=lod=84 NA 9q31.3 NA NA NA NA NA NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.00001755 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.196511 NA NA NA NA NA NA NA 7.665649 1 1 1 9 138651555 138651555 G A exonic KCNT1 NA synonymous SNV KCNT1:NM_001272003:exon10:c.G750A:p.A250A,KCNT1:NM_020822:exon11:c.G885A:p.A295A exonic ENSG00000107147 NA synonymous SNV ENSG00000107147:ENST00000473941:exon10:c.G726A:p.A242A,ENSG00000107147:ENST00000487664:exon10:c.G750A:p.A250A,ENSG00000107147:ENST00000491806:exon10:c.G786A:p.A262A,ENSG00000107147:ENST00000263604:exon11:c.G828A:p.A276A,ENSG00000107147:ENST00000298480:exon11:c.G885A:p.A295A,ENSG00000107147:ENST00000371757:exon11:c.G885A:p.A295A,ENSG00000107147:ENST00000486577:exon11:c.G768A:p.A256A,ENSG00000107147:ENST00000488444:exon11:c.G828A:p.A276A,ENSG00000107147:ENST00000490355:exon11:c.G828A:p.A276A NA NA 9q34.3 Score=772;Name=V$PAX5_02 Name=ZNF263,JunD NA NA rs142756900 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0006 0.0006 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.564634 NA NA 0.000581 0 NA NA NA 7.6654856 9 1 1 9 80144114 80144114 C T exonic GNA14 NA synonymous SNV GNA14:NM_004297:exon2:c.G180A:p.G60G exonic ENSG00000156049 NA synonymous SNV ENSG00000156049:ENST00000341700:exon2:c.G180A:p.G60G Score=622;Name=lod=448 NA 9q21.2 Score=866;Name=V$HAND1E47_01 NA NA NA rs147709559 NA NA NA 0.000599042 0.001 NA 0.0029 NA NA NA NA NA NA 0.0003 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.419288 1.419288 NA 0.000116 0 NA NA NA 7.6652506 1 1 1 14 62212486 62212486 T C exonic HIF1A NA synonymous SNV HIF1A:NM_001243084:exon14:c.T2352C:p.S784S,HIF1A:NM_001530:exon14:c.T2280C:p.S760S exonic ENSG00000100644 NA synonymous SNV ENSG00000100644:ENST00000337138:exon14:c.T2280C:p.S760S,ENSG00000100644:ENST00000394997:exon14:c.T2283C:p.S761S,ENSG00000100644:ENST00000539097:exon14:c.T2352C:p.S784S,ENSG00000100644:ENST00000557538:exon14:c.T2103C:p.S701S Score=607;Name=lod=391 NA 14q23.2 Score=820;Name=V$OCT1_04 NA NA NA rs149019950 0.0005 0.0005 NA 0.000599042 0.001 NA 0.0014 NA 0.001 NA NA 0.0028 NA 0.0004 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.340799 1.340799 NA 0.000233 0.000227 NA NA NA 7.6650336 1 1 1 2 196774877 196774877 A G exonic DNAH7 NA synonymous SNV DNAH7:NM_018897:exon25:c.T3978C:p.P1326P exonic ENSG00000118997 NA synonymous SNV ENSG00000118997:ENST00000312428:exon25:c.T3978C:p.P1326P Score=501;Name=lod=145 NA 2q32.3 Score=931;Name=V$LMO2COM_01 NA NA NA rs200575809 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0003 0.0004 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.208386 NA NA 0.000365 0 NA NA NA 7.6650016 2 1 1 4 73930519 73930519 G A exonic COX18 NA synonymous SNV COX18:NM_173827:exon4:c.C696T:p.G232G exonic ENSG00000163626 NA synonymous SNV ENSG00000163626:ENST00000295890:exon4:c.C696T:p.G232G,ENSG00000163626:ENST00000507544:exon4:c.C699T:p.G233G Score=501;Name=lod=145 NA 4q13.3 NA NA Name=15 NA rs61741433 0.0027 0.0027 0.004 0.00259585 NA NA 0.0029 0.0083 NA NA NA 0.0028 0.01 0.0015 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.532201 NA NA 0.000233 0.011348 NA NA NA 7.6649336 1 1 1 6 49814239 49814239 G A exonic CRISP1 NA synonymous SNV CRISP1:NM_001131:exon5:c.C429T:p.Y143Y,CRISP1:NM_001205220:exon5:c.C429T:p.Y143Y,CRISP1:NM_170609:exon5:c.C429T:p.Y143Y exonic ENSG00000124812 NA synonymous SNV ENSG00000124812:ENST00000329411:exon4:c.C429T:p.Y143Y,ENSG00000124812:ENST00000355791:exon4:c.C429T:p.Y143Y,ENSG00000124812:ENST00000335847:exon5:c.C429T:p.Y143Y,ENSG00000124812:ENST00000505118:exon5:c.C429T:p.Y143Y,ENSG00000124812:ENST00000507853:exon5:c.C429T:p.Y143Y,ENSG00000124812:ENST00000536021:exon5:c.C429T:p.Y143Y Score=383;Name=lod=48 NA 6p12.3 NA Name=TAL1_(SC-12984) NA NA rs138679779 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0006 0.0014 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.660061 NA NA 0.001395 0.000454 NA NA NA 7.6646716 6 1 1 1 55349318 55349318 G A exonic DHCR24 NA synonymous SNV DHCR24:NM_014762:exon2:c.C360T:p.D120D exonic ENSG00000116133 NA synonymous SNV ENSG00000116133:ENST00000371269:exon2:c.C360T:p.D120D,ENSG00000116133:ENST00000535035:exon2:c.C237T:p.D79D Score=622;Name=lod=451 NA 1p32.3 Score=791;Name=V$CART1_01 NA NA NA rs61733134 0.01 0.01 0.006 0.0071885 NA NA 0.0014 0.0265 NA NA NA NA 0.02 0.0021 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.244873 1.244873 NA 0.000349 0.020654 NA 0.022 NA 7.6642176 4 2 1 1 205628425 205628425 G A exonic SLC45A3 NA synonymous SNV SLC45A3:NM_033102:exon5:c.C1599T:p.V533V exonic ENSG00000158715 NA synonymous SNV ENSG00000158715:ENST00000367145:exon5:c.C1599T:p.V533V NA NA 1q32.1 Score=867;Name=V$YY1_01 NA Name=132 NA rs143282781 NA NA NA 0.000199681 NA NA NA NA 0.001 NA NA NA NA 0.0013 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.032311 NA NA 0.001279 0.000681 NA NA NA 7.6640876 2 1 1 15 81605612 81605612 C T exonic STARD5 NA synonymous SNV STARD5:NM_181900:exon6:c.G627A:p.K209K exonic ENSG00000172345 NA synonymous SNV ENSG00000172345:ENST00000302824:exon6:c.G627A:p.K209K NA NA 15q25.1 NA Name=STAT3,CEBPB,p300,Pol2(b),GR,JunD,c-Fos,ERalpha_a,Max,c-Jun Name=114 NA rs61659195 0.01 0.01 0.006 0.00778754 NA NA NA 0.0295 NA NA NA NA 0.02 0.0028 0.025 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.165718 NA 0.01 0.000116 0.024739 NA 0.014 NA 7.6637506 2 1 1 2 71797754 71797754 C T exonic DYSF NA synonymous SNV DYSF:NM_001130976:exon28:c.C3015T:p.P1005P,DYSF:NM_001130977:exon28:c.C3015T:p.P1005P,DYSF:NM_001130984:exon28:c.C3018T:p.P1006P,DYSF:NM_001130986:exon28:c.C3018T:p.P1006P,DYSF:NM_001130455:exon29:c.C3060T:p.P1020P,DYSF:NM_001130978:exon29:c.C3057T:p.P1019P,DYSF:NM_001130980:exon29:c.C3108T:p.P1036P,DYSF:NM_001130981:exon29:c.C3108T:p.P1036P,DYSF:NM_001130983:exon29:c.C3060T:p.P1020P,DYSF:NM_001130985:exon29:c.C3111T:p.P1037P,DYSF:NM_001130987:exon29:c.C3111T:p.P1037P,DYSF:NM_003494:exon29:c.C3057T:p.P1019P,DYSF:NM_001130979:exon30:c.C3150T:p.P1050P,DYSF:NM_001130982:exon30:c.C3153T:p.P1051P exonic ENSG00000135636 NA synonymous SNV ENSG00000135636:ENST00000409744:exon28:c.C3018T:p.P1006P,ENSG00000135636:ENST00000258104:exon29:c.C3057T:p.P1019P,ENSG00000135636:ENST00000394120:exon29:c.C3060T:p.P1020P,ENSG00000135636:ENST00000409366:exon29:c.C3060T:p.P1020P,ENSG00000135636:ENST00000409582:exon29:c.C3108T:p.P1036P,ENSG00000135636:ENST00000409762:exon29:c.C3108T:p.P1036P,ENSG00000135636:ENST00000410020:exon29:c.C3111T:p.P1037P,ENSG00000135636:ENST00000410041:exon29:c.C3111T:p.P1037P,ENSG00000135636:ENST00000429174:exon29:c.C3057T:p.P1019P,ENSG00000135636:ENST00000409651:exon30:c.C3153T:p.P1051P,ENSG00000135636:ENST00000413539:exon30:c.C3150T:p.P1050P Score=521;Name=lod=175 NA 2p13.2 Score=834;Name=V$MRF2_01 NA NA NA rs143475751 NA NA NA 0.000399361 0.001 NA 0.0014 NA NA NA NA NA NA 0.0009 0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.36781 NA NA 0.001047 0 NA NA NA 7.6637196 16 1 1 5 79351738 79351738 A G exonic THBS4 NA synonymous SNV THBS4:NM_003248:exon3:c.A423G:p.L141L exonic ENSG00000113296 NA synonymous SNV ENSG00000113296:ENST00000350881:exon3:c.A423G:p.L141L,ENSG00000113296:ENST00000511733:exon3:c.A150G:p.L50L NA NA 5q14.1 NA Name=EBF Name=12 NA rs17882513 0.0018 0.0018 0.003 0.00339457 0.001 NA 0.0043 0.0098 NA NA NA 0.0028 0.01 0.0015 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.651602 NA NA 0.000581 0.007717 NA 0.007 NA 7.6635856 11 2 1 16 23080363 23080363 G A exonic USP31 NA synonymous SNV USP31:NM_020718:exon16:c.C3063T:p.S1021S exonic ENSG00000103404 NA synonymous SNV ENSG00000103404:ENST00000567975:exon2:c.C942T:p.S314S,ENSG00000103404:ENST00000219689:exon16:c.C3063T:p.S1021S Score=366;Name=lod=41 NA 16p12.2 Score=851;Name=V$FAC1_01 NA NA NA rs146554415 0.0014 0.0014 NA 0.000798722 0.002 NA 0.0029 NA NA 0.0026 NA 0.0028 NA 0.0006 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.36519 NA NA 0.000581 0.000683 NA NA NA 7.6634856 2 1 1 1 6521701 6521701 C T exonic TNFRSF25 NA synonymous SNV TNFRSF25:NM_148970:exon5:c.G498A:p.E166E,TNFRSF25:NM_148966:exon9:c.G936A:p.E312E,TNFRSF25:NM_148967:exon9:c.G912A:p.E304E,TNFRSF25:NM_003790:exon10:c.G1047A:p.E349E,TNFRSF25:NM_148965:exon10:c.G1074A:p.E358E exonic ENSG00000215788 NA synonymous SNV ENSG00000215788:ENST00000351748:exon5:c.G498A:p.E166E,ENSG00000215788:ENST00000348333:exon9:c.G912A:p.E304E,ENSG00000215788:ENST00000351959:exon9:c.G936A:p.E312E,ENSG00000215788:ENST00000356876:exon10:c.G1047A:p.E349E,ENSG00000215788:ENST00000377782:exon10:c.G1074A:p.E358E Score=628;Name=lod=477 NA 1p36.31 Score=860;Name=V$P300_01 NA NA NA rs149595085 0.0014 0.0014 NA 0.000399361 0.002 NA NA NA NA 0.0013 NA NA 0.0041 0.0003 0.0041 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.547896 1.547896 NA 0.001047 0 NA NA NA 7.6633196 1 1 1 X 2835964 2835964 G A exonic ARSD NA synonymous SNV ARSD:NM_001669:exon5:c.C744T:p.F248F exonic ENSG00000006756 NA synonymous SNV ENSG00000006756:ENST00000381154:exon5:c.C744T:p.F248F NA NA Xp22.33 NA Name=CCNT2,HMGN3,YY1 Name=5 NA rs73632972 NA NA 0.12798 NA NA NA NA NA NA NA NA NA NA 0.0045 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.118953 NA NA NA NA NA NA NA 7.6621666 11 8 2 11 5717780 5717780 C T exonic TRIM22 NA synonymous SNV TRIM22:NM_001199573:exon2:c.C318T:p.I106I,TRIM22:NM_006074:exon2:c.C318T:p.I106I exonic ENSG00000132274 NA synonymous SNV ENSG00000132274:ENST00000379965:exon2:c.C318T:p.I106I,ENSG00000132274:ENST00000414641:exon2:c.C318T:p.I106I,ENSG00000132274:ENST00000454828:exon2:c.C318T:p.I106I,ENSG00000132274:ENST00000425490:exon3:c.C318T:p.I106I NA NA 11p15.4 Score=820;Name=V$E4BP4_01 NA Name=7 NA rs61735271 0.01 0.01 0.002 0.00798722 0.002 NA 0.0115 0.0227 NA NA NA 0.02 0.02 0.0024 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.137621 NA NA 0.000941 0.011516 NA 0.029 NA 7.6613256 4 1 1 10 102762598 102762598 C T exonic LZTS2 NA synonymous SNV LZTS2:NM_032429:exon2:c.C303T:p.P101P exonic ENSG00000107816 NA synonymous SNV ENSG00000107816:ENST00000370220:exon1:c.C303T:p.P101P,ENSG00000107816:ENST00000370223:exon2:c.C303T:p.P101P,ENSG00000107816:ENST00000426584:exon2:c.C303T:p.P101P,ENSG00000107816:ENST00000429732:exon2:c.C303T:p.P101P,ENSG00000107816:ENST00000454422:exon2:c.C303T:p.P101P,ENSG00000107816:ENST00000481129:exon2:c.C303T:p.P101P Score=403;Name=lod=58 NA 10q24.31 Score=714;Name=V$HOX13_01 NA NA NA rs117876479 0.01 0.01 0.007 0.00638978 0.003 0.0278 0.0014 NA NA 0.01 0.02 NA NA 0.0046 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.445005 1.445005 NA 0.000349 0.000227 NA NA NA 7.6587176 2 1 1 11 16077331 16077331 T C exonic SOX6 NA synonymous SNV SOX6:NM_001145811:exon9:c.A1095G:p.E365E,SOX6:NM_017508:exon9:c.A1104G:p.E368E,SOX6:NM_001145819:exon10:c.A1257G:p.E419E,SOX6:NM_033326:exon10:c.A1218G:p.E406E exonic ENSG00000110693 NA synonymous SNV ENSG00000110693:ENST00000316399:exon9:c.A1218G:p.E406E,ENSG00000110693:ENST00000527619:exon9:c.A1104G:p.E368E,ENSG00000110693:ENST00000528252:exon9:c.A1095G:p.E365E,ENSG00000110693:ENST00000352083:exon10:c.A1218G:p.E406E,ENSG00000110693:ENST00000396356:exon10:c.A1218G:p.E406E,ENSG00000110693:ENST00000528429:exon10:c.A1218G:p.E406E Score=739;Name=lod=1341 NA 11p15.2 Score=850;Name=V$EVI1_04 NA NA NA rs146022326 0.0032 0.0032 NA 0.00159744 0.004 NA 0.0043 0.0008 NA 0.01 NA 0.01 NA 0.0022 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.763303 NA NA 0.00198 0.000682 NA NA NA 7.6584866 2 1 1 19 7594511 7594511 C T exonic MCOLN1 NA synonymous SNV MCOLN1:NM_020533:exon11:c.C1272T:p.S424S exonic ENSG00000090674 NA synonymous SNV ENSG00000090674:ENST00000264079:exon11:c.C1272T:p.S424S Score=651;Name=lod=588 NA 19p13.2 Score=782;Name=V$PAX2_01 NA NA NA rs147754092 0.0009 0.0009 NA 0.00119808 0.003 NA NA 0.0015 0.001 0.0026 NA NA NA 0.0025 0.003 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.451882 1.451882 NA 0.003023 0.000908 NA NA NA 7.6581436 2 2 1 21 47545949 47545949 T C exonic COL6A2 NA synonymous SNV COL6A2:NM_001849:exon26:c.T2220C:p.D740D,COL6A2:NM_058174:exon26:c.T2220C:p.D740D,COL6A2:NM_058175:exon26:c.T2220C:p.D740D exonic ENSG00000142173 NA synonymous SNV ENSG00000142173:ENST00000397763:exon25:c.T2220C:p.D740D,ENSG00000142173:ENST00000409416:exon25:c.T2220C:p.D740D,ENSG00000142173:ENST00000300527:exon26:c.T2220C:p.D740D,ENSG00000142173:ENST00000310645:exon26:c.T2220C:p.D740D,ENSG00000142173:ENST00000357838:exon26:c.T2220C:p.D740D Score=336;Name=lod=31 NA 21q22.3 Score=905;Name=V$RORA1_01 NA NA NA rs61735830 0.0009 0.0009 NA 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA 0.0028 0.0038 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.113945 NA NA 0.003837 0.000908 NA NA NA 7.6580296 16 1 1 19 13211508 13211508 C T exonic LYL1 NA synonymous SNV LYL1:NM_005583:exon3:c.G390A:p.K130K exonic ENSG00000104903 NA synonymous SNV ENSG00000104903:ENST00000264824:exon3:c.G390A:p.K130K,ENSG00000104903:ENST00000590974:exon3:c.G168A:p.K56K Score=573;Name=lod=284 NA 19p13.2 NA NA Name=2 NA rs142687463 0.0005 0.0005 NA 0.00159744 0.001 NA 0.0029 NA 0.0051 NA NA 0.0028 NA 0.0039 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.374326 1.374326 NA 0.005116 0.001816 ID=COSM565176;OCCURENCE=1(lung) 0.007 NA 7.6566506 1 1 1 1 158262459 158262459 C T exonic CD1C NA synonymous SNV CD1C:NM_001765:exon4:c.C684T:p.S228S exonic ENSG00000158481 NA synonymous SNV ENSG00000158481:ENST00000368170:exon4:c.C684T:p.S228S NA NA 1q23.1 NA NA NA NA rs3138103 0.0014 0.0014 0.003 0.000998403 0.004 NA 0.0014 NA NA 0.0026 NA 0.0028 NA 0.0028 0.0042 . . . . . . . . 1.000 N . . . . -0.977 T 0.019 T . 0.398 6.164 -1.61 -0.310 -2.389 2.974 0.398461 NA NA 0.004186 0.001362 NA NA NA 7.6556806 1 1 1 16 16208714 16208714 G A exonic ABCC1 NA synonymous SNV ABCC1:NM_004996:exon23:c.G3171A:p.L1057L exonic ENSG00000103222 NA synonymous SNV ENSG00000103222:ENST00000349029:exon21:c.G2826A:p.L942L,ENSG00000103222:ENST00000346370:exon22:c.G3003A:p.L1001L,ENSG00000103222:ENST00000351154:exon22:c.G2994A:p.L998L,ENSG00000103222:ENST00000345148:exon23:c.G3171A:p.L1057L,ENSG00000103222:ENST00000399410:exon23:c.G3171A:p.L1057L,ENSG00000103222:ENST00000399408:exon24:c.G3201A:p.L1067L Score=412;Name=lod=63 NA 16p13.11 Score=760;Name=V$PAX6_01 NA NA NA rs191017838 0.0005 0.0005 NA 0.000798722 0.003 NA 0.0014 NA NA 0.0013 NA NA NA 0.0034 0.0077 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.003538 NA NA 0.007705 0.001157 NA NA NA 7.6525616 9 2 2 8 26220321 26220321 A G exonic PPP2R2A NA synonymous SNV PPP2R2A:NM_001177591:exon7:c.A789G:p.L263L,PPP2R2A:NM_002717:exon7:c.A759G:p.L253L exonic ENSG00000221914 NA synonymous SNV ENSG00000221914:ENST00000524169:exon3:c.A96G:p.L32L,ENSG00000221914:ENST00000315985:exon7:c.A789G:p.L263L,ENSG00000221914:ENST00000380737:exon7:c.A759G:p.L253L Score=641;Name=lod=536 NA 8p21.2 Score=830;Name=V$E4BP4_01 NA NA NA rs142156798 0.0032 0.0032 NA 0.00279553 0.008 NA 0.0086 NA NA 0.01 NA 0.01 NA 0.004 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.114223 NA NA 0.002442 0.000681 NA NA NA 7.6522246 1 1 1 16 88744949 88744949 G T exonic SNAI3 NA synonymous SNV SNAI3:NM_178310:exon3:c.C786A:p.A262A exonic ENSG00000185669 NA synonymous SNV ENSG00000185669:ENST00000332281:exon3:c.C786A:p.A262A Score=439;Name=lod=81 NA 16q24.3 Score=812;Name=V$CDPCR3_01 NA NA NA rs139375690 0.0023 0.0023 0.002 0.00419329 0.0089 NA 0.0029 NA 0.0102 0.004 NA 0.01 NA 0.0046 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.317645 NA NA 0.00407 0.000227 NA NA NA 7.6490966 1 1 1 21 44299573 44299573 C T exonic WDR4 NA synonymous SNV WDR4:NM_001260474:exon1:c.G33A:p.G11G,WDR4:NM_018669:exon1:c.G33A:p.G11G,WDR4:NM_033661:exon1:c.G33A:p.G11G exonic ENSG00000160193 NA synonymous SNV ENSG00000160193:ENST00000330317:exon1:c.G33A:p.G11G,ENSG00000160193:ENST00000398208:exon1:c.G33A:p.G11G NA NA 21q22.3 Score=793;Name=V$CMYB_01 Name=ETS1,GRp20,USF1_(SC-8983),ZNF263,c-Jun,THAP1_(SC-98174),YY1_(C-20),SRF,Max,eGFP-JunD,c-Myc,GABP,HA-E2F1,Pol2-4H8,BRCA1_(C-1863),ELF1_(SC-631),E2F4,E2F6,TAF1,NRSF,NFKB,Pol2,USF-1,CEBPB,Sin3Ak-20,HEY1,YY1,HDAC2_(SC-6296),Pol2(phosphoS2) NA NA rs138295040 0.0023 0.0023 NA 0.00299521 0.008 0.001 0.0029 NA 0.0041 0.01 0.0017 NA NA 0.0045 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.017281 2.017281 NA 0.005815 0.000454 NA NA NA 7.6483516 5 1 1 14 60938319 60938319 T C exonic C14orf39 NA synonymous SNV C14orf39:NM_174978:exon6:c.A462G:p.A154A exonic ENSG00000179008 NA synonymous SNV ENSG00000179008:ENST00000321731:exon6:c.A462G:p.A154A Score=517;Name=lod=168 NA 14q23.1 Score=895;Name=V$MSX1_01 NA NA NA rs35543839 0.0032 0.0032 0.001 0.00319489 0.006 0.001 0.0014 0.0008 0.0072 0.01 0.0017 0.0028 0.002 0.0055 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.217291 NA NA 0.007454 0.001817 NA 0.051 NA 7.6477126 1 1 1 3 48694471 48694471 C T exonic CELSR3 NA synonymous SNV CELSR3:NM_001407:exon2:c.G4059A:p.Q1353Q exonic ENSG00000008300 NA synonymous SNV ENSG00000008300:ENST00000164024:exon2:c.G4059A:p.Q1353Q,ENSG00000008300:ENST00000544264:exon2:c.G4059A:p.Q1353Q Score=560;Name=lod=251 NA 3p21.31 NA NA Name=7 NA rs145229058 0.0027 0.0027 0.003 0.00159744 0.005 NA 0.0043 NA NA 0.01 NA 0.01 NA 0.006 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.199285 NA NA 0.008843 0.001136 ID=COSM166490;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) NA NA 7.6468236 3 2 2 16 67220479 67220479 G A exonic EXOC3L1 NA synonymous SNV EXOC3L1:NM_178516:exon8:c.C1366T:p.L456L exonic ENSG00000179044 NA synonymous SNV ENSG00000179044:ENST00000545725:exon7:c.C1057T:p.L353L,ENSG00000179044:ENST00000563889:exon7:c.C1072T:p.L358L,ENSG00000179044:ENST00000314586:exon8:c.C1366T:p.L456L Score=412;Name=lod=63 NA 16q22.1 NA NA Name=42 NA rs75613564 0.0032 0.0032 0.003 0.00199681 0.008 NA 0.0014 0.0008 NA 0.01 NA 0.0028 NA 0.0051 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.896996 NA NA 0.008023 0.00182 NA NA NA 7.6455436 1 1 1 15 68583172 68583172 C G exonic FEM1B NA synonymous SNV FEM1B:NM_015322:exon2:c.C1476G:p.V492V exonic ENSG00000169018 NA synonymous SNV ENSG00000169018:ENST00000306917:exon2:c.C1476G:p.V492V Score=428;Name=lod=73 NA 15q23 Score=707;Name=V$BRACH_01 NA NA NA rs143637660 0.0032 0.0032 0.002 0.00219649 0.0099 NA NA NA 0.001 0.01 NA NA NA 0.0059 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.375857 NA NA 0.006515 0.000909 NA NA NA 7.6443516 1 1 1 3 145913061 145913061 G T exonic PLSCR4 NA synonymous SNV PLSCR4:NM_001177304:exon5:c.C480A:p.S160S,PLSCR4:NM_001128306:exon6:c.C525A:p.S175S,PLSCR4:NM_001128305:exon8:c.C795A:p.S265S,PLSCR4:NM_020353:exon8:c.C795A:p.S265S,PLSCR4:NM_001128304:exon10:c.C795A:p.S265S exonic ENSG00000114698 NA synonymous SNV ENSG00000114698:ENST00000433593:exon5:c.C480A:p.S160S,ENSG00000114698:ENST00000383083:exon6:c.C525A:p.S175S,ENSG00000114698:ENST00000354952:exon8:c.C795A:p.S265S,ENSG00000114698:ENST00000446574:exon8:c.C795A:p.S265S,ENSG00000114698:ENST00000493382:exon10:c.C795A:p.S265S NA NA 3q24 NA Name=c-Jun,GATA-2,c-Fos,Pol2(b) Name=22 NA rs34467190 0.0037 0.0037 0.003 0.00379393 0.0129 NA 0.0014 0.0008 0.0041 0.01 NA NA NA 0.0057 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.183986 NA NA 0.007093 0.001362 NA 0.007 NA 7.6409736 1 1 1 3 49688155 49688155 C T exonic BSN NA synonymous SNV BSN:NM_003458:exon4:c.C1629T:p.A543A exonic ENSG00000164061 NA synonymous SNV ENSG00000164061:ENST00000296452:exon4:c.C1629T:p.A543A Score=361;Name=lod=39 NA 3p21.31 Score=710;Name=V$NRSF_01 NA NA NA rs139787101 0.01 0.01 0.004 0.00219649 0.0089 NA 0.0014 0.0008 NA 0.01 NA 0.01 NA 0.0091 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.50166 NA NA 0.009537 0.001817 NA NA NA 7.6391296 5 1 1 2 179396573 179396573 T G exonic TTN NA synonymous SNV TTN:NM_003319:exon186:c.A77574C:p.T25858T,TTN:NM_133432:exon187:c.A77949C:p.T25983T,TTN:NM_133437:exon187:c.A78150C:p.T26050T,TTN:NM_133378:exon307:c.A97065C:p.T32355T,TTN:NM_001256850:exon308:c.A99846C:p.T33282T,TTN:NM_001267550:exon358:c.A104769C:p.T34923T exonic ENSG00000155657 NA synonymous SNV ENSG00000155657:ENST00000460472:exon186:c.A77574C:p.T25858T,ENSG00000155657:ENST00000342175:exon187:c.A78150C:p.T26050T,ENSG00000155657:ENST00000359218:exon187:c.A77949C:p.T25983T,ENSG00000155657:ENST00000342992:exon307:c.A97065C:p.T32355T,ENSG00000155657:ENST00000591111:exon308:c.A99846C:p.T33282T,ENSG00000155657:ENST00000589042:exon358:c.A104769C:p.T34923T Score=619;Name=lod=436 NA 2q31.2 NA NA NA NA rs56375087 0.01 0.01 0.003 0.00379393 0.0159 NA 0.0043 NA NA 0.02 NA 0.01 NA 0.01 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.469225 NA NA 0.006771 0.000517 NA NA CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000040946.1|RCV000125986.1;CLNDSDB=.|.;CLNDSDBID=.|. 7.6339956 11 4 4 9 115759518 115759518 C T exonic ZNF883 NA nonsynonymous SNV ZNF883:NM_001101338:exon5:c.G1022A:p.R341Q ncRNA_exonic ENSG00000228623 NA NA NA NA NA 9q32 NA Name=KAP1,SETDB1 Name=8 NA rs376231861 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00008293 0.0002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.926876 NA NA 0 0.000234 NA NA NA 7.4999171 1 1 1 22 50956675 50956675 C T exonic NCAPH2 NA nonsynonymous SNV NCAPH2:NM_001185011:exon7:c.C614T:p.A205V,NCAPH2:NM_014551:exon7:c.C614T:p.A205V,NCAPH2:NM_152299:exon7:c.C614T:p.A205V exonic ENSG00000025770 NA nonsynonymous SNV ENSG00000025770:ENST00000523045:exon6:c.C512T:p.A171V,ENSG00000025770:ENST00000299821:exon7:c.C614T:p.A205V,ENSG00000025770:ENST00000395698:exon7:c.C614T:p.A205V,ENSG00000025770:ENST00000395701:exon7:c.C614T:p.A205V,ENSG00000025770:ENST00000420993:exon7:c.C614T:p.A205V NA NA 22q13.33 NA NA NA NA rs139403039 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00009176 0.0005 1 T 0.009 B 0.008 B 0.015 N 1.000 N 0 N . . -1.017 T 0.041 T 0.263 0.698 7.723 1.13 0.195 -0.764 4.575 0.697691 NA 0.3 0.000116 0.000454 ID=COSM1035498,COSM1154045;OCCURENCE=1(endometrium) NA NA 7.3331256 2 2 1 14 23549797 23549797 T A exonic ACIN1 NA nonsynonymous SNV ACIN1:NM_001164815:exon5:c.A801T:p.E267D,ACIN1:NM_001164814:exon6:c.A921T:p.E307D,ACIN1:NM_014977:exon6:c.A921T:p.E307D exonic ENSG00000100813 NA nonsynonymous SNV ENSG00000100813:ENST00000457657:exon5:c.A801T:p.E267D,ENSG00000100813:ENST00000262710:exon6:c.A921T:p.E307D,ENSG00000100813:ENST00000555053:exon6:c.A921T:p.E307D,ENSG00000100813:ENST00000605057:exon6:c.A747T:p.E249D NA NA 14q11.2 NA NA NA NA rs143040721 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.00005766 0.0001 0.16 T 0.002 B 0.004 B 0.117 N 1.000 N 0.205 N 2.04 T -1.017 T 0.025 T 0.124 1.267 10.13 1.3 0.068 -0.562 7.493 1.266771 1.266771 0.04 0.000116 0 NA NA NA 7.3321597 1 1 1 19 42729069 42729069 C A exonic ZNF526 NA nonsynonymous SNV ZNF526:NM_133444:exon3:c.C514A:p.P172T exonic ENSG00000167625 NA nonsynonymous SNV ENSG00000167625:ENST00000301215:exon3:c.C514A:p.P172T NA NA 19q13.2 NA NA NA NA rs143231579 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.00006591 0.0003 . . 0.041 B 0.025 B 0.800 N 1.000 N 1.39 L 3.0 T -0.961 T 0.022 T 0.232 0.826 8.328 0.807 0.584 0.878 4.251 0.825797 NA 0.02 0.000349 0 NA NA NA 7.3319185 1 1 1 19 55087463 55087463 G C exonic LILRA2 NA nonsynonymous SNV LILRA2:NM_001130917:exon6:c.G1142C:p.R381P,LILRA2:NM_006866:exon6:c.G1142C:p.R381P exonic ENSG00000239998 NA nonsynonymous SNV ENSG00000239998:ENST00000391737:exon5:c.G1106C:p.R369P,ENSG00000239998:ENST00000251376:exon6:c.G1142C:p.R381P,ENSG00000239998:ENST00000391738:exon6:c.G1142C:p.R381P,ENSG00000239998:ENST00000251377:exon7:c.G1142C:p.R381P NA NA 19q13.42 NA NA NA NA rs140640200 0.0014 0.0014 NA 0.00519169 0.001 0.001 0.0014 NA 0.0235 0.004 NA NA NA 0.001 0.004 . . 0.0 B 0.001 B 0.101 N 1.000 N -3.575 N 4.11 T -0.843 T 0.001 T 0.201 -1.247 0.052 -0.756 0.048 -0.372 2.962 -1.246702 NA 0.53 0.000581 0.000227 NA NA NA 7.3307524 3 2 2 9 21239552 21239552 C T exonic IFNA14 NA nonsynonymous SNV IFNA14:NM_002172:exon1:c.G383A:p.G128E exonic ENSG00000228083 NA nonsynonymous SNV ENSG00000228083:ENST00000380222:exon1:c.G383A:p.G128E NA NA 9p21.3 NA NA NA NA rs28383770 0.0027 0.0027 0.002 0.00239617 0.003 NA 0.0086 0.0008 0.002 0.0026 NA 0.01 0.002 0.0023 0.01 0.07 T 0.002 B 0.027 B 0.677 N 1.000 N 1.54 L 3.5 T -0.976 T 0.013 T 0.154 0.683 7.653 -0.705 -0.028 -0.575 6.54 0.68335 NA 0.07 0.004651 0 NA NA NA 7.3233824 1 1 1 1 248458766 248458766 T C exonic OR2T12 NA nonsynonymous SNV OR2T12:NM_001004692:exon1:c.A115G:p.S39G exonic ENSG00000177201 NA nonsynonymous SNV ENSG00000177201:ENST00000317996:exon1:c.A115G:p.S39G NA NA 1q44 NA NA NA NA rs41310573 0.01 0.01 0 0.00758786 0.005 0.001 0.0043 0.0219 NA 0.01 NA 0.01 0.03 0.0029 0.03 1 T 0.0 B 0.0 B 0.199 N 1.000 N -2.915 N 8.1 T -0.950 T 0.000 T 0.093 -1.437 0.02 1.55 -0.159 0.656 7.423 -1.436879 NA 1 0.002442 0.008625 ID=COSM1341135;OCCURENCE=1(large_intestine) NA NA 7.3229914 2 1 1 19 4891564 4891564 C T exonic ARRDC5 NA nonsynonymous SNV ARRDC5:NM_001080523:exon3:c.G523A:p.E175K exonic ENSG00000205784 NA nonsynonymous SNV ENSG00000205784:ENST00000381781:exon3:c.G523A:p.E175K NA NA 19p13.3 NA NA NA NA rs117229323 0.0027 0.0027 0.002 0.00239617 0.006 NA 0.0058 NA 0.002 0.01 NA 0.01 NA 0.0039 0.01 0.57 T 0.003 B 0.003 B 0.005 N 1.000 N 0.975 L 2.12 T -1.006 T 0.019 T 0.157 -0.329 2.439 0.412 0.339 -0.074 4.368 -0.329008 NA 0.67 0.004565 0.000753 NA NA NA 7.3188684 1 1 1 1 168013876 168013876 G A exonic DCAF6 NA nonsynonymous SNV DCAF6:NM_001017977:exon13:c.G1666A:p.A556T,DCAF6:NM_001198957:exon14:c.G1804A:p.A602T,DCAF6:NM_018442:exon14:c.G1726A:p.A576T,DCAF6:NM_001198956:exon15:c.G1897A:p.A633T exonic ENSG00000143164 NA nonsynonymous SNV ENSG00000143164:ENST00000312263:exon13:c.G1666A:p.A556T,ENSG00000143164:ENST00000367843:exon14:c.G1726A:p.A576T,ENSG00000143164:ENST00000432587:exon14:c.G1804A:p.A602T,ENSG00000143164:ENST00000367840:exon15:c.G1897A:p.A633T NA NA 1q24.2 NA NA NA NA rs113151068 0.0037 0.0037 NA 0.00199681 0.007 NA 0.0043 NA NA 0.01 NA 0.01 NA 0.0026 0.01 0.58 T 0.044 B 0.022 B 0.054 N 1.000 N 0 N 1.45 T -0.971 T 0.009 T 0.093 1.73 11.75 -1.27 -0.094 -0.343 1.901 1.730334 1.730334 0.15 0.005116 0.000227 NA NA NA 7.3186174 5 3 1 19 3752927 3752927 C T exonic APBA3 NA nonsynonymous SNV APBA3:NM_004886:exon7:c.G1073A:p.R358Q exonic ENSG00000011132 NA nonsynonymous SNV ENSG00000011132:ENST00000316757:exon7:c.G1073A:p.R358Q NA NA 19p13.3 NA NA NA NA rs117197891 0.0032 0.0032 0.007 0.00499201 0.0089 NA 0.0043 0.0008 0.0123 0.01 NA NA NA 0.0069 0.01 0.37 T 0.0 B 0.0 B 0.135 N 1.000 N 0.525 N 0.55 T -1.052 T 0.055 T 0.058 0.458 6.489 -1.63 -0.298 0.035 8.902 0.458359 NA 0.06 0.008958 0.001362 NA NA NA 7.3085754 3 1 1 3 39175810 39175810 C T exonic TTC21A NA synonymous SNV TTC21A:NM_001105513:exon20:c.C2730T:p.T910T,TTC21A:NM_145755:exon21:c.C2874T:p.T958T exonic ENSG00000168026 NA synonymous SNV ENSG00000168026:ENST00000440121:exon20:c.C2730T:p.T910T,ENSG00000168026:ENST00000301819:exon21:c.C2877T:p.T959T,ENSG00000168026:ENST00000430597:exon21:c.C2853T:p.T951T,ENSG00000168026:ENST00000431162:exon21:c.C2874T:p.T958T NA NA 3p22.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.405211 NA NA NA NA NA NA NA 6.6666666 1 1 1 6 129813620 129813620 C T exonic LAMA2 NA synonymous SNV LAMA2:NM_001079823:exon57:c.C8224T:p.L2742L,LAMA2:NM_000426:exon58:c.C8236T:p.L2746L exonic ENSG00000196569 NA synonymous SNV ENSG00000196569:ENST00000421865:exon58:c.C8236T:p.L2746L NA NA 6q22.33 NA NA Name=19 NA rs3189618 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.729104 NA NA NA NA NA NA NA 6.6666666 6 3 1 10 17083149 17083149 A G exonic CUBN NA synonymous SNV CUBN:NM_001081:exon27:c.T3900C:p.Y1300Y exonic ENSG00000107611 NA synonymous SNV ENSG00000107611:ENST00000377833:exon27:c.T3900C:p.Y1300Y NA NA 10p13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.425768 NA NA NA NA NA NA NA 6.6666666 9 1 1 19 44536725 44536725 T C exonic ZNF222 NA synonymous SNV ZNF222:NM_001129996:exon4:c.T1018C:p.L340L,ZNF222:NM_013360:exon4:c.T898C:p.L300L exonic ENSG00000159885 NA synonymous SNV ENSG00000159885:ENST00000187879:exon4:c.T898C:p.L300L,ENSG00000159885:ENST00000391960:exon4:c.T1018C:p.L340L NA NA 19q13.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.139963 NA NA NA NA NA NA NA 6.6666666 1 1 1 4 8401310 8401310 G A exonic ACOX3 NA synonymous SNV ACOX3:NM_001101667:exon8:c.C846T:p.P282P,ACOX3:NM_003501:exon8:c.C846T:p.P282P exonic ENSG00000087008 NA synonymous SNV ENSG00000087008:ENST00000356406:exon8:c.C846T:p.P282P,ENSG00000087008:ENST00000413009:exon8:c.C846T:p.P282P,ENSG00000087008:ENST00000503233:exon8:c.C846T:p.P282P NA NA 4p16.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008249 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.773892 NA NA NA NA NA NA NA 6.6666584 3 1 1 8 105459708 105459708 A G exonic DPYS NA synonymous SNV DPYS:NM_001385:exon3:c.T447C:p.L149L exonic ENSG00000147647 NA synonymous SNV ENSG00000147647:ENST00000521573:exon2:c.T288C:p.L96L,ENSG00000147647:ENST00000351513:exon3:c.T447C:p.L149L NA NA 8q22.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.000008239 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.013054 NA NA NA NA NA NA NA 6.6666584 2 1 1 2 217280117 217280117 C T exonic SMARCAL1 NA synonymous SNV SMARCAL1:NM_001127207:exon3:c.C690T:p.V230V,SMARCAL1:NM_014140:exon3:c.C690T:p.V230V exonic ENSG00000138375 NA synonymous SNV ENSG00000138375:ENST00000392128:exon1:c.C282T:p.V94V,ENSG00000138375:ENST00000427645:exon1:c.C387T:p.V129V,ENSG00000138375:ENST00000357276:exon3:c.C690T:p.V230V,ENSG00000138375:ENST00000358207:exon3:c.C690T:p.V230V NA NA 2q35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001647 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.163757 NA NA NA NA NA NA NA 6.6666501 1 1 1 9 2077644 2077644 C T exonic SMARCA2 NA synonymous SNV SMARCA2:NM_003070:exon14:c.C2052T:p.D684D,SMARCA2:NM_139045:exon14:c.C2052T:p.D684D exonic ENSG00000080503 NA synonymous SNV ENSG00000080503:ENST00000382194:exon13:c.C2052T:p.D684D,ENSG00000080503:ENST00000349721:exon14:c.C2052T:p.D684D,ENSG00000080503:ENST00000357248:exon14:c.C2052T:p.D684D,ENSG00000080503:ENST00000382203:exon14:c.C2052T:p.D684D Score=547;Name=lod=223 NA 9p24.3 NA NA NA NA rs149890563 0.0005 0.0005 0 0.000199681 NA NA NA 0.0008 NA NA NA NA 0.002 0.00001648 0.002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.595623 NA NA NA NA NA NA NA 6.6666501 9 2 2 3 53326567 53326567 C T exonic DCP1A NA synonymous SNV DCP1A:NM_018403:exon7:c.G915A:p.K305K exonic ENSG00000162290 NA synonymous SNV ENSG00000162290:ENST00000606822:exon6:c.G801A:p.K267K,ENSG00000162290:ENST00000294241:exon7:c.G915A:p.K305K,ENSG00000162290:ENST00000607628:exon7:c.G915A:p.K305K Score=295;Name=lod=21 NA 3p21.1 NA NA NA NA rs200307108 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00001659 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.395762 2.395762 NA NA NA NA NA NA 6.66665 2 1 1 9 38395910 38395910 G A exonic ALDH1B1 NA synonymous SNV ALDH1B1:NM_000692:exon2:c.G165A:p.P55P exonic ENSG00000137124 NA synonymous SNV ENSG00000137124:ENST00000377698:exon2:c.G165A:p.P55P NA NA 9p13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00002473 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.349347 NA NA NA NA NA NA NA 6.6666419 5 1 1 19 35786682 35786682 G A exonic MAG NA synonymous SNV MAG:NM_001199216:exon4:c.G138A:p.P46P,MAG:NM_002361:exon4:c.G213A:p.P71P,MAG:NM_080600:exon4:c.G213A:p.P71P exonic ENSG00000105695 NA synonymous SNV ENSG00000105695:ENST00000600291:exon3:c.G138A:p.P46P,ENSG00000105695:ENST00000361922:exon4:c.G213A:p.P71P,ENSG00000105695:ENST00000392213:exon4:c.G213A:p.P71P,ENSG00000105695:ENST00000537831:exon4:c.G138A:p.P46P,ENSG00000105695:ENST00000595791:exon4:c.G213A:p.P71P NA NA 19q13.12 Score=867;Name=V$SPZ1_01 NA NA NA rs199750254 NA NA NA 0.000199681 NA NA NA NA 0.001 NA NA NA NA 0.00002476 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.174811 NA NA NA NA ID=COSM994929,COSM994928;OCCURENCE=1(large_intestine),1(endometrium) NA NA 6.6666418 4 2 2 17 8046779 8046779 G A exonic PER1 NA synonymous SNV PER1:NM_002616:exon19:c.C2877T:p.P959P exonic ENSG00000179094 NA synonymous SNV ENSG00000179094:ENST00000581082:exon18:c.C2808T:p.P936P,ENSG00000179094:ENST00000317276:exon19:c.C2877T:p.P959P NA NA 17p13.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003935 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.515826 NA NA NA NA NA NA NA 6.6666273 4 1 1 22 19967453 19967453 C T exonic ARVCF NA synonymous SNV ARVCF:NM_001670:exon6:c.G1209A:p.P403P exonic ENSG00000099889 NA synonymous SNV ENSG00000099889:ENST00000344269:exon4:c.G1020A:p.P340P,ENSG00000099889:ENST00000401994:exon4:c.G1020A:p.P340P,ENSG00000099889:ENST00000406259:exon4:c.G1209A:p.P403P,ENSG00000099889:ENST00000406522:exon4:c.G1020A:p.P340P,ENSG00000099889:ENST00000263207:exon6:c.G1209A:p.P403P NA NA 22q11.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00006909 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.390619 NA NA NA NA NA NA NA 6.6665975 3 1 1 9 74300191 74300191 G A exonic TMEM2 NA synonymous SNV TMEM2:NM_001135820:exon23:c.C3885T:p.D1295D,TMEM2:NM_013390:exon24:c.C4074T:p.D1358D exonic ENSG00000135048 NA synonymous SNV ENSG00000135048:ENST00000396272:exon7:c.C1053T:p.D351D,ENSG00000135048:ENST00000377066:exon23:c.C3885T:p.D1295D,ENSG00000135048:ENST00000377044:exon24:c.C4074T:p.D1358D NA NA 9q21.13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00007417 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.162327 NA NA NA NA NA NA NA 6.6665924 5 1 1 21 43531675 43531675 C T exonic UMODL1 NA synonymous SNV UMODL1:NM_001199527:exon11:c.C2127T:p.T709T,UMODL1:NM_173568:exon11:c.C2343T:p.T781T,UMODL1:NM_001004416:exon12:c.C1959T:p.T653T,UMODL1:NM_001199528:exon12:c.C1743T:p.T581T exonic ENSG00000177398 NA synonymous SNV ENSG00000177398:ENST00000400427:exon11:c.C2127T:p.T709T,ENSG00000177398:ENST00000408989:exon11:c.C2343T:p.T781T,ENSG00000177398:ENST00000400424:exon12:c.C1743T:p.T581T,ENSG00000177398:ENST00000408910:exon12:c.C1959T:p.T653T NA NA 21q22.3 NA Name=EBF NA NA rs201648916 0.0005 0.0005 NA 0.000399361 NA NA NA 0.0015 NA NA NA NA 0.002 0.0001 0.002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.005235 NA NA NA NA NA NA NA 6.6665666 20 1 1 1 28599160 28599160 C T exonic SESN2 NA synonymous SNV SESN2:NM_031459:exon5:c.C606T:p.T202T exonic ENSG00000130766 NA synonymous SNV ENSG00000130766:ENST00000253063:exon5:c.C606T:p.T202T Score=496;Name=lod=138 NA 1p35.3 NA NA NA NA rs147643685 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003296 0.0002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.240248 1.240248 NA 0.000116 0.000227 NA NA NA 6.6665176 1 1 1 8 75929142 75929142 T C exonic CRISPLD1 NA synonymous SNV CRISPLD1:NM_031461:exon8:c.T895C:p.L299L exonic ENSG00000121005 NA synonymous SNV ENSG00000121005:ENST00000517786:exon6:c.T337C:p.L113L,ENSG00000121005:ENST00000523524:exon7:c.T331C:p.L111L,ENSG00000121005:ENST00000262207:exon8:c.T895C:p.L299L Score=560;Name=lod=251 NA 8q21.11 NA NA NA NA rs200626463 0.0005 0.0005 NA NA NA NA NA NA NA NA NA 0.0028 NA 0.0002 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.411363 NA NA 0.000118 0 NA NA NA 6.6663486 3 1 1 15 80464532 80464532 C A exonic FAH NA synonymous SNV FAH:NM_000137:exon8:c.C648A:p.I216I exonic ENSG00000103876 NA synonymous SNV ENSG00000103876:ENST00000539156:exon7:c.C438A:p.I146I,ENSG00000103876:ENST00000561421:exon8:c.C648A:p.I216I,ENSG00000103876:ENST00000261755:exon9:c.C648A:p.I216I,ENSG00000103876:ENST00000407106:exon9:c.C648A:p.I216I Score=440;Name=lod=82 NA 15q25.1 NA NA NA NA rs147016995 0.0014 0.0014 0.003 0.000399361 NA NA NA 0.0015 NA NA NA NA 0.01 0.00009063 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.224893 NA NA 0.000233 0 NA 0.007 NA 6.666343 4 1 1 12 7361754 7361754 C T exonic PEX5 NA synonymous SNV PEX5:NM_000319:exon13:c.C1524T:p.S508S,PEX5:NM_001131024:exon13:c.C1437T:p.S479S,PEX5:NM_001131023:exon14:c.C1593T:p.S531S,PEX5:NM_001131025:exon14:c.C1548T:p.S516S,PEX5:NM_001131026:exon15:c.C1548T:p.S516S exonic ENSG00000139197 NA synonymous SNV ENSG00000139197:ENST00000266563:exon13:c.C1437T:p.S479S,ENSG00000139197:ENST00000266564:exon13:c.C1524T:p.S508S,ENSG00000139197:ENST00000412720:exon14:c.C1611T:p.S537S,ENSG00000139197:ENST00000420616:exon14:c.C1548T:p.S516S,ENSG00000139197:ENST00000434354:exon14:c.C1593T:p.S531S,ENSG00000139197:ENST00000455147:exon15:c.C1548T:p.S516S Score=533;Name=lod=195 NA 12p13.31 NA NA NA NA rs143571888 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0003 0.0005 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.934377 NA NA 0.000233 0.000454 NA NA NA 6.6661336 1 1 1 17 56688605 56688605 G A exonic TEX14 NA synonymous SNV TEX14:NM_001201457:exon10:c.C1119T:p.I373I,TEX14:NM_031272:exon10:c.C1101T:p.I367I,TEX14:NM_198393:exon10:c.C1101T:p.I367I exonic ENSG00000121101 NA synonymous SNV ENSG00000121101:ENST00000240361:exon10:c.C1119T:p.I373I,ENSG00000121101:ENST00000349033:exon10:c.C1101T:p.I367I,ENSG00000121101:ENST00000389934:exon10:c.C1101T:p.I367I Score=451;Name=lod=91 NA 17q22 NA NA NA NA rs192936672 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0002 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.117293 NA NA NA NA NA NA NA 6.6654666 7 1 1 1 55224346 55224346 C T exonic PARS2 NA synonymous SNV PARS2:NM_152268:exon2:c.G489A:p.T163T exonic ENSG00000162396 NA synonymous SNV ENSG00000162396:ENST00000371279:exon2:c.G489A:p.T163T NA NA 1p32.3 Score=761;Name=V$TCF11MAFG_01 NA NA NA rs145967472 0.0014 0.0014 NA 0.00119808 NA NA NA 0.0045 NA NA NA NA 0.01 0.0009 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.40927 NA NA 0.000349 0.01044 NA NA NA 6.6654176 1 1 1 19 52825796 52825796 A G exonic ZNF480 NA synonymous SNV ZNF480:NM_144684:exon5:c.A1293G:p.E431E exonic ENSG00000198464 NA synonymous SNV ENSG00000198464:ENST00000335090:exon3:c.A1062G:p.E354E,ENSG00000198464:ENST00000334564:exon4:c.A1164G:p.E388E,ENSG00000198464:ENST00000468240:exon5:c.A1293G:p.E431E,ENSG00000198464:ENST00000595962:exon5:c.A1293G:p.E431E NA NA 19q13.41 NA Name=SETDB1 NA NA rs150701576 0.0018 0.0018 0.002 0.00259585 NA NA NA 0.0098 NA NA NA NA 0.01 0.0008 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.378952 NA NA 0.000465 0.00522 NA NA NA 6.6654016 2 1 1 1 109805587 109805587 G T exonic CELSR2 NA synonymous SNV CELSR2:NM_001408:exon7:c.G4704T:p.V1568V exonic ENSG00000143126 NA synonymous SNV ENSG00000143126:ENST00000271332:exon7:c.G4704T:p.V1568V Score=395;Name=lod=54 NA 1p13.3 NA NA NA NA rs200841982 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0002 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.774455 NA NA 0.000116 0 NA NA NA 6.6653506 8 1 1 13 33273973 33273973 A C exonic PDS5B NA synonymous SNV PDS5B:NM_015032:exon16:c.A1707C:p.P569P exonic ENSG00000083642 NA synonymous SNV ENSG00000083642:ENST00000315596:exon16:c.A1707C:p.P569P,ENSG00000083642:ENST00000450460:exon16:c.A1707C:p.P569P Score=701;Name=lod=941 NA 13q13.1 NA NA NA NA rs371816913 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0003 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.263981 1.263981 NA 0.000123 0 NA NA NA 6.6652436 1 1 1 3 46593058 46593058 G A exonic LRRC2 NA synonymous SNV LRRC2:NM_024512:exon2:c.C24T:p.F8F exonic ENSG00000163827 NA synonymous SNV ENSG00000163827:ENST00000296144:exon2:c.C24T:p.F8F,ENSG00000163827:ENST00000395905:exon2:c.C24T:p.F8F Score=428;Name=lod=73 NA 3p21.31 NA NA NA NA rs146344015 NA NA NA 0.000599042 0.001 NA NA NA 0.002 NA NA NA NA 0.0002 0.0003 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.099416 NA NA 0.000349 0.000227 NA NA NA 6.6651176 1 1 1 10 87373299 87373299 G A exonic GRID1 NA synonymous SNV GRID1:NM_017551:exon15:c.C2466T:p.D822D exonic ENSG00000182771 NA synonymous SNV ENSG00000182771:ENST00000536331:exon8:c.C1179T:p.D393D,ENSG00000182771:ENST00000327946:exon15:c.C2466T:p.D822D Score=516;Name=lod=166 NA 10q23.1 NA NA NA NA rs150033140 NA NA NA 0.000199681 0.001 NA NA NA NA NA NA NA NA 0.0002 0.0003 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.053053 NA NA 0.000349 0 NA NA NA 6.6651176 4 1 1 19 41269551 41269551 C T exonic SNRPA NA synonymous SNV SNRPA:NM_004596:exon5:c.C660T:p.N220N exonic ENSG00000077312 NA synonymous SNV ENSG00000077312:ENST00000243563:exon5:c.C660T:p.N220N,ENSG00000077312:ENST00000601393:exon5:c.C597T:p.N199N,ENSG00000077312:ENST00000601545:exon5:c.C510T:p.N170N Score=591;Name=lod=337 NA 19q13.2 NA NA NA NA rs116493527 0.01 0.01 0.009 0.00519169 NA 0.003 0.0058 0.0144 NA NA 0.0035 0.01 0.02 0.0017 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.166233 NA NA 0.000116 0.011348 NA NA NA 6.6648506 6 1 1 19 33703254 33703254 G A exonic SLC7A10 NA synonymous SNV SLC7A10:NM_019849:exon5:c.C732T:p.A244A exonic ENSG00000130876 NA synonymous SNV ENSG00000130876:ENST00000253188:exon5:c.C732T:p.A244A,ENSG00000130876:ENST00000590036:exon5:c.C732T:p.A244A Score=618;Name=lod=434 NA 19q13.11 NA NA NA NA rs115581846 0.01 0.01 0.007 0.00658946 NA NA 0.0014 0.0242 NA NA NA 0.0028 0.02 0.0021 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.511205 1.511205 NA 0.000349 0.0202 NA 0.014 NA 6.6642176 4 1 1 1 205764031 205764031 G A exonic SLC41A1 NA synonymous SNV SLC41A1:NM_173854:exon10:c.C1323T:p.F441F exonic ENSG00000133065 NA synonymous SNV ENSG00000133065:ENST00000367137:exon10:c.C1323T:p.F441F Score=579;Name=lod=301 NA 1q32.1 NA NA NA NA rs151305052 NA NA NA 0.000399361 NA NA NA NA 0.002 NA NA NA NA 0.0013 0.0012 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.369635 1.369635 NA 0.001163 0.000454 NA NA NA 6.6642036 5 1 1 10 76979070 76979070 A G exonic VDAC2 NA synonymous SNV VDAC2:NM_001184823:exon6:c.A312G:p.Q104Q,VDAC2:NM_003375:exon6:c.A312G:p.Q104Q,VDAC2:NM_001184783:exon7:c.A357G:p.Q119Q exonic ENSG00000165637 NA synonymous SNV ENSG00000165637:ENST00000447677:exon5:c.A312G:p.Q104Q,ENSG00000165637:ENST00000298468:exon6:c.A312G:p.Q104Q,ENSG00000165637:ENST00000332211:exon6:c.A312G:p.Q104Q,ENSG00000165637:ENST00000344036:exon6:c.A312G:p.Q104Q,ENSG00000165637:ENST00000543351:exon6:c.A312G:p.Q104Q,ENSG00000165637:ENST00000313132:exon7:c.A357G:p.Q119Q,ENSG00000165637:ENST00000535553:exon7:c.A195G:p.Q65Q Score=615;Name=lod=422 NA 10q22.2 NA NA NA NA rs144704103 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0009 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.805591 NA NA 0.000698 0 NA NA NA 6.6640686 2 1 1 21 45746685 45746685 C T exonic PFKL NA synonymous SNV PFKL:NM_002626:exon22:c.C2283T:p.Y761Y exonic ENSG00000141959 NA synonymous SNV ENSG00000141959:ENST00000349048:exon22:c.C2283T:p.Y761Y,ENSG00000141959:ENST00000403390:exon23:c.C2424T:p.Y808Y Score=604;Name=lod=380 NA 21q22.3 NA NA NA NA rs146583875 0.0009 0.0009 NA 0.000798722 0.002 NA 0.0029 NA NA 0.0013 NA 0.0028 NA 0.0009 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.107598 NA NA 0.000349 0.000682 NA NA NA 6.6634176 1 1 1 10 82269185 82269185 C T exonic TSPAN14 NA synonymous SNV TSPAN14:NM_030927:exon5:c.C408T:p.D136D exonic ENSG00000108219 NA synonymous SNV ENSG00000108219:ENST00000372164:exon4:c.C357T:p.D119D,ENSG00000108219:ENST00000372157:exon5:c.C318T:p.D106D,ENSG00000108219:ENST00000429989:exon5:c.C408T:p.D136D,ENSG00000108219:ENST00000372158:exon7:c.C408T:p.D136D,ENSG00000108219:ENST00000372156:exon8:c.C408T:p.D136D Score=548;Name=lod=224 NA 10q23.1 NA NA NA NA rs116583360 0.0032 0.0032 0.004 0.00459265 0.001 NA 0.0043 0.0136 0.001 0.0013 NA 0.0028 0.01 0.0019 0.012 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.414124 1.414124 NA 0.000581 0.011802 ID=COSM197151;OCCURENCE=1(pancreas),1(large_intestine) 0.007 NA 6.6631856 1 1 1 3 9055435 9055435 G A exonic SRGAP3 NA synonymous SNV SRGAP3:NM_001033117:exon16:c.C1833T:p.F611F,SRGAP3:NM_014850:exon16:c.C1905T:p.F635F exonic ENSG00000196220 NA synonymous SNV ENSG00000196220:ENST00000360413:exon16:c.C1833T:p.F611F,ENSG00000196220:ENST00000383836:exon16:c.C1905T:p.F635F Score=618;Name=lod=432 NA 3p25.3 NA NA NA NA rs145531861 NA NA NA 0.000199681 NA NA NA 0.0008 NA NA NA NA NA 0.0014 0.0023 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.003317 NA NA 0.002326 0.000227 NA NA NA 6.6629406 1 1 1 22 21383661 21383661 G A exonic SLC7A4 NA synonymous SNV SLC7A4:NM_004173:exon4:c.C1696T:p.L566L exonic ENSG00000099960 NA synonymous SNV ENSG00000099960:ENST00000382932:exon4:c.C1696T:p.L566L,ENSG00000099960:ENST00000403586:exon4:c.C1696T:p.L566L Score=590;Name=lod=332 NA 22q11.21 NA NA NA NA rs45618435 0.0009 0.0009 NA 0.000998403 0.001 NA 0.0058 NA NA 0.0013 NA 0.0028 NA 0.0013 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.043046 NA NA 0.001628 0.000908 NA NA NA 6.6627386 1 1 1 2 219887947 219887947 G T exonic CCDC108 NA synonymous SNV CCDC108:NM_194302:exon16:c.C2802A:p.I934I exonic ENSG00000181378 NA synonymous SNV ENSG00000181378:ENST00000453220:exon14:c.C2802A:p.I934I,ENSG00000181378:ENST00000441968:exon15:c.C2802A:p.I934I,ENSG00000181378:ENST00000341552:exon16:c.C2802A:p.I934I Score=385;Name=lod=49 NA 2q35 NA NA NA NA rs146417352 NA NA NA 0.00199681 0.001 0.001 NA NA 0.0082 NA NA NA NA 0.0022 0.0009 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.881703 NA NA 0.00093 0.000227 NA NA NA 6.6625366 1 1 1 10 62038547 62038547 G A exonic ANK3 NA synonymous SNV ANK3:NM_001204404:exon4:c.C348T:p.V116V,ANK3:NM_020987:exon4:c.C399T:p.V133V,ANK3:NM_001204403:exon5:c.C381T:p.V127V exonic ENSG00000151150 NA synonymous SNV ENSG00000151150:ENST00000280772:exon4:c.C399T:p.V133V,ENSG00000151150:ENST00000503366:exon4:c.C348T:p.V116V,ENSG00000151150:ENST00000503925:exon4:c.C321T:p.V107V,ENSG00000151150:ENST00000373827:exon5:c.C381T:p.V127V Score=604;Name=lod=381 NA 10q21.2 NA NA NA NA rs77316697 0.0009 0.0009 0.001 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA 0.0006 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.37764 1.37764 NA 0.00186 0.000454 NA 0.007 NA 6.6622066 6 1 1 7 20689734 20689734 G A exonic ABCB5 NA synonymous SNV ABCB5:NM_001163941:exon12:c.G1296A:p.Q432Q exonic ENSG00000004846 NA synonymous SNV ENSG00000004846:ENST00000404938:exon12:c.G1296A:p.Q432Q Score=500;Name=lod=143 NA 7p21.1 NA NA NA NA rs139633934 0.0014 0.0014 0.002 0.00139776 0.002 NA 0.0058 0.0008 NA 0.0026 NA 0.0028 NA 0.0011 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.903532 NA NA 0.001815 0 NA 0.007 NA 6.6617516 8 1 1 16 57206205 57206205 C T exonic FAM192A NA synonymous SNV FAM192A:NM_024946:exon4:c.G306A:p.K102K exonic ENSG00000172775 NA synonymous SNV ENSG00000172775:ENST00000389447:exon3:c.G306A:p.K102K,ENSG00000172775:ENST00000309137:exon4:c.G306A:p.K102K,ENSG00000172775:ENST00000562324:exon4:c.G306A:p.K102K,ENSG00000172775:ENST00000562406:exon4:c.G306A:p.K102K,ENSG00000172775:ENST00000566077:exon4:c.G75A:p.K25K,ENSG00000172775:ENST00000567439:exon4:c.G306A:p.K102K,ENSG00000172775:ENST00000568671:exon4:c.G306A:p.K102K,ENSG00000172775:ENST00000569266:exon4:c.G306A:p.K102K,ENSG00000172775:ENST00000564108:exon5:c.G306A:p.K102K,ENSG00000172775:ENST00000565458:exon5:c.G306A:p.K102K,ENSG00000172775:ENST00000566584:exon5:c.G306A:p.K102K,ENSG00000172775:ENST00000567044:exon5:c.G306A:p.K102K Score=685;Name=lod=811 NA 16q13 NA NA NA NA rs180702754 0.0009 0.0009 NA 0.000798722 0.001 NA 0.0014 NA 0.002 0.0013 NA 0.0028 NA 0.0017 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.018266 NA NA 0.002322 0 NA 0.007 NA 6.6616446 1 1 1 3 121260205 121260205 G A exonic POLQ NA synonymous SNV POLQ:NM_199420:exon3:c.C465T:p.Y155Y exonic ENSG00000051341 NA synonymous SNV ENSG00000051341:ENST00000264233:exon3:c.C465T:p.Y155Y Score=652;Name=lod=595 NA 3q13.33 NA NA NA NA rs142289848 0.0018 0.0018 NA 0.00119808 0.003 NA 0.0043 NA NA 0.0026 NA 0.01 NA 0.0007 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.81806 NA NA 0.001395 0.000681 NA NA NA 6.6615716 1 1 1 2 172926350 172926350 G A exonic METAP1D NA synonymous SNV METAP1D:NM_199227:exon2:c.G165A:p.P55P exonic ENSG00000172878 NA synonymous SNV ENSG00000172878:ENST00000315796:exon2:c.G165A:p.P55P Score=525;Name=lod=182 NA 2q31.1 NA NA NA NA rs149714087 0.0005 0.0005 NA 0.000798722 0.001 NA NA 0.0023 NA 0.0013 NA NA NA 0.0015 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.12063 NA NA 0.002791 0.001135 NA NA NA 6.6613756 1 1 1 9 137803106 137803106 G A exonic FCN1 NA synonymous SNV FCN1:NM_002003:exon8:c.C606T:p.S202S exonic ENSG00000085265 NA synonymous SNV ENSG00000085265:ENST00000371806:exon8:c.C606T:p.S202S NA NA 9q34.3 Score=732;Name=V$SEF1_C NA NA NA rs142943184 0.0009 0.0009 0.001 0.000599042 0.003 NA NA NA NA 0.0026 NA NA NA 0.0018 0.0026 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.394818 NA NA 0.001628 0 NA NA NA 6.6602386 7 1 1 4 95198229 95198229 C G exonic SMARCAD1 NA synonymous SNV SMARCAD1:NM_001254949:exon8:c.C711G:p.L237L,SMARCAD1:NM_001128429:exon16:c.C2001G:p.L667L,SMARCAD1:NM_001128430:exon16:c.C2001G:p.L667L,SMARCAD1:NM_020159:exon16:c.C2001G:p.L667L exonic ENSG00000163104 NA synonymous SNV ENSG00000163104:ENST00000509418:exon8:c.C711G:p.L237L,ENSG00000163104:ENST00000354268:exon16:c.C2001G:p.L667L,ENSG00000163104:ENST00000359052:exon16:c.C2001G:p.L667L,ENSG00000163104:ENST00000457823:exon16:c.C2001G:p.L667L Score=681;Name=lod=779 NA 4q22.3 NA NA NA NA rs61762662 0.0005 0.0005 NA 0.000599042 0.003 NA NA NA NA 0.0013 NA NA NA 0.002 0.0015 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.090326 NA NA 0.001512 0.000454 NA NA NA 6.6601546 1 1 1 6 88854082 88854082 G A exonic CNR1 NA synonymous SNV CNR1:NM_001160259:exon2:c.C912T:p.H304H,CNR1:NM_016083:exon2:c.C912T:p.H304H,CNR1:NM_033181:exon2:c.C813T:p.H271H,CNR1:NM_001160226:exon3:c.C912T:p.H304H,CNR1:NM_001160258:exon4:c.C912T:p.H304H exonic ENSG00000118432 NA synonymous SNV ENSG00000118432:ENST00000549890:exon1:c.C912T:p.H304H,ENSG00000118432:ENST00000369499:exon2:c.C912T:p.H304H,ENSG00000118432:ENST00000369501:exon2:c.C912T:p.H304H,ENSG00000118432:ENST00000428600:exon2:c.C912T:p.H304H,ENSG00000118432:ENST00000468898:exon2:c.C813T:p.H271H,ENSG00000118432:ENST00000535130:exon2:c.C912T:p.H304H,ENSG00000118432:ENST00000537554:exon2:c.C912T:p.H304H,ENSG00000118432:ENST00000549716:exon2:c.C729T:p.H243H Score=435;Name=lod=78 NA 6q15 NA NA NA NA rs144233963 0.0046 0.0046 0.006 0.0071885 0.002 NA 0.0043 0.0234 NA 0.0013 NA 0.0028 0.02 0.0033 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.574087 NA NA 0.001395 0.019973 NA NA NA 6.6599716 2 1 1 16 2027195 2027195 C T exonic TBL3 NA synonymous SNV TBL3:NM_006453:exon15:c.C1581T:p.V527V exonic ENSG00000183751 NA synonymous SNV ENSG00000183751:ENST00000568546:exon15:c.C1581T:p.V527V Score=455;Name=lod=94 NA 16p13.3 NA NA NA NA rs148169075 0.0027 0.0027 0.001 0.00139776 0.003 NA 0.0058 NA NA 0.004 NA 0.01 NA 0.0016 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.224139 NA NA 0.002559 0.000455 NA NA NA 6.6595076 2 2 1 1 204197978 204197978 T C exonic PLEKHA6 NA synonymous SNV PLEKHA6:NM_014935:exon20:c.A2763G:p.P921P exonic ENSG00000143850 NA synonymous SNV ENSG00000143850:ENST00000272203:exon20:c.A2763G:p.P921P,ENSG00000143850:ENST00000414478:exon20:c.A2823G:p.P941P Score=467;Name=lod=105 NA 1q32.1 NA NA NA NA rs142113537 0.0005 0.0005 NA 0.000599042 0.002 NA 0.0014 NA NA 0.0013 NA NA NA 0.0018 0.0035 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.063056 NA NA 0.003488 0.000681 NA NA NA 6.6593786 8 1 1 6 38690855 38690855 G C exonic DNAH8 NA synonymous SNV DNAH8:NM_001206927:exon2:c.G270C:p.P90P exonic ENSG00000124721 NA synonymous SNV ENSG00000124721:ENST00000327475:exon1:c.G234C:p.P78P,ENSG00000124721:ENST00000373278:exon2:c.G270C:p.P90P,ENSG00000124721:ENST00000449981:exon2:c.G270C:p.P90P NA NA 6p21.2 NA Name=Pol2-4H8,Pol2(b) NA NA rs180723141 0.0018 0.0018 NA 0.00139776 0.003 NA 0.0043 NA 0.001 0.0026 NA 0.01 NA 0.0026 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.669405 NA NA 0.002762 0.000571 NA NA NA 6.6583046 30 2 2 11 45986980 45986980 G A exonic PHF21A NA synonymous SNV PHF21A:NM_001101802:exon9:c.C879T:p.T293T,PHF21A:NM_016621:exon9:c.C882T:p.T294T exonic ENSG00000135365 NA synonymous SNV ENSG00000135365:ENST00000257821:exon9:c.C882T:p.T294T,ENSG00000135365:ENST00000323180:exon9:c.C882T:p.T294T,ENSG00000135365:ENST00000418153:exon9:c.C879T:p.T293T Score=723;Name=lod=1155 NA 11p11.2 NA NA NA NA rs35646259 0.0023 0.0023 0.004 0.000798722 0.003 NA 0.0014 NA NA 0.0026 NA 0.01 NA 0.0019 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.361724 1.361724 NA 0.003605 0.001817 NA NA NA 6.6581616 2 1 1 2 11778907 11778907 C T exonic GREB1 NA synonymous SNV GREB1:NM_014668:exon32:c.C5658T:p.S1886S exonic ENSG00000196208 NA synonymous SNV ENSG00000196208:ENST00000396123:exon15:c.C2652T:p.S884S,ENSG00000196208:ENST00000234142:exon31:c.C5658T:p.S1886S,ENSG00000196208:ENST00000381486:exon32:c.C5658T:p.S1886S Score=529;Name=lod=188 NA 2p25.1 NA NA NA NA rs138273238 0.0014 0.0014 0.002 0.00139776 0.005 NA NA NA 0.002 0.004 NA NA NA 0.0011 0.004 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.082463 NA NA 0.002549 0.000526 NA NA NA 6.6580176 8 1 1 6 111527803 111527803 T C exonic SLC16A10 NA synonymous SNV SLC16A10:NM_018593:exon4:c.T951C:p.H317H exonic ENSG00000112394 NA synonymous SNV ENSG00000112394:ENST00000368850:exon3:c.T9C:p.H3H,ENSG00000112394:ENST00000368851:exon4:c.T951C:p.H317H NA NA 6q21 Score=799;Name=V$OCT1_04 NA NA NA rs149374548 0.0018 0.0018 NA 0.00119808 0.005 NA NA NA 0.001 0.01 NA NA NA 0.0021 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.742347 NA NA 0.001628 0 NA NA NA 6.6579386 1 1 1 11 3039866 3039866 G A exonic CARS NA synonymous SNV CARS:NM_001751:exon12:c.C1260T:p.A420A,CARS:NM_139273:exon12:c.C1260T:p.A420A,CARS:NM_001014437:exon13:c.C1509T:p.A503A,CARS:NM_001194997:exon13:c.C1509T:p.A503A exonic ENSG00000110619 NA synonymous SNV ENSG00000110619:ENST00000278224:exon12:c.C1260T:p.A420A,ENSG00000110619:ENST00000397111:exon12:c.C1260T:p.A420A,ENSG00000110619:ENST00000380525:exon13:c.C1509T:p.A503A,ENSG00000110619:ENST00000397114:exon13:c.C1230T:p.A410A,ENSG00000110619:ENST00000401769:exon13:c.C1299T:p.A433A Score=603;Name=lod=377 NA 11p15.4 NA NA NA NA rs80041195 0.0014 0.0014 0.002 0.00119808 0.003 NA 0.0029 NA 0.001 0.0026 NA 0.0028 NA 0.0027 0.0031 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.399787 NA NA 0.003141 0.000681 NA NA NA 6.6578256 3 1 1 12 57920935 57920935 C A exonic MBD6 NA synonymous SNV MBD6:NM_052897:exon7:c.C2007A:p.A669A exonic ENSG00000166987 NA synonymous SNV ENSG00000166987:ENST00000547545:exon1:c.C510A:p.A170A,ENSG00000166987:ENST00000355673:exon7:c.C2007A:p.A669A,ENSG00000166987:ENST00000431731:exon7:c.C2007A:p.A669A Score=654;Name=lod=605 NA 12q13.3 NA NA NA NA rs76917839 0.01 0.01 0.005 0.00858626 NA NA 0.0058 0.0287 0.001 NA NA 0.01 0.02 0.0058 0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.318036 NA NA 0.003145 0.03297 NA 0.014 NA 6.6577216 4 1 1 9 94519645 94519645 G A exonic ROR2 NA synonymous SNV ROR2:NM_004560:exon3:c.C372T:p.D124D exonic ENSG00000169071 NA synonymous SNV ENSG00000169071:ENST00000375708:exon3:c.C372T:p.D124D Score=444;Name=lod=85 NA 9q22.31 NA NA NA NA rs145568368 0.0014 0.0014 NA 0.000798722 0.003 NA NA 0.0008 NA 0.004 NA NA NA 0.0027 0.0047 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.837016 NA NA 0.004651 0.001362 NA NA NA 6.6563156 6 2 2 5 118969692 118969692 A G exonic FAM170A NA synonymous SNV FAM170A:NM_001163991:exon2:c.A108G:p.Q36Q,FAM170A:NM_182761:exon3:c.A249G:p.Q83Q exonic ENSG00000164334 NA synonymous SNV ENSG00000164334:ENST00000379555:exon2:c.A108G:p.Q36Q,ENSG00000164334:ENST00000504819:exon2:c.A108G:p.Q36Q,ENSG00000164334:ENST00000335286:exon3:c.A249G:p.Q83Q,ENSG00000164334:ENST00000509264:exon3:c.A249G:p.Q83Q,ENSG00000164334:ENST00000515256:exon3:c.A249G:p.Q83Q NA NA 5q23.1 Score=833;Name=V$TST1_01 NA NA NA rs148156357 0.0027 0.0027 0.002 0.00199681 0.005 NA 0.0029 0.0008 0.002 0.01 NA 0.0028 NA 0.0036 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.205398 NA NA 0.00373 0.001282 NA NA NA 6.6543366 6 1 1 6 7231521 7231521 C T exonic RREB1 NA synonymous SNV RREB1:NM_001003698:exon10:c.C3189T:p.P1063P,RREB1:NM_001003699:exon10:c.C3189T:p.P1063P,RREB1:NM_001003700:exon10:c.C3189T:p.P1063P,RREB1:NM_001168344:exon10:c.C3189T:p.P1063P exonic ENSG00000124782 NA synonymous SNV ENSG00000124782:ENST00000334984:exon10:c.C3189T:p.P1063P,ENSG00000124782:ENST00000349384:exon10:c.C3189T:p.P1063P,ENSG00000124782:ENST00000379933:exon10:c.C3189T:p.P1063P,ENSG00000124782:ENST00000379938:exon10:c.C3189T:p.P1063P Score=455;Name=lod=94 NA 6p24.3 NA NA NA NA rs148116530 0.0009 0.0009 0.003 0.00299521 0.003 NA NA NA 0.0123 0.0026 NA NA NA 0.0049 0.0051 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.237042 1.237042 NA 0.00512 0.000908 NA NA NA 6.6536466 2 1 1 17 67111065 67111065 G A exonic ABCA6 NA synonymous SNV ABCA6:NM_080284:exon13:c.C1620T:p.I540I exonic ENSG00000154262 NA synonymous SNV ENSG00000154262:ENST00000284425:exon13:c.C1620T:p.I540I Score=454;Name=lod=93 NA 17q24.3 NA NA NA NA rs138479597 0.0018 0.0018 NA 0.00139776 0.003 NA 0.0043 0.0008 NA 0.0026 NA 0.01 NA 0.0033 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.478053 NA NA 0.00686 0.000908 NA NA NA 6.6535066 9 1 1 9 134349958 134349958 A C exonic PRRC2B NA synonymous SNV PRRC2B:NM_013318:exon15:c.A2442C:p.A814A exonic ENSG00000130723 NA synonymous SNV ENSG00000130723:ENST00000456307:exon2:c.A249C:p.A83A,ENSG00000130723:ENST00000357304:exon15:c.A2442C:p.A814A Score=659;Name=lod=637 NA 9q34.13 NA NA NA NA rs200268888 0.0009 0.0009 NA 0.00159744 0.004 NA 0.0058 NA NA 0.0013 NA 0.0028 NA 0.0035 0.0057 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.644339 NA NA 0.005711 0.001595 NA NA NA 6.6534556 6 2 2 14 105850736 105850736 C T exonic PACS2 NA synonymous SNV PACS2:NM_001100913:exon17:c.C1827T:p.Y609Y,PACS2:NM_001243127:exon17:c.C1590T:p.Y530Y,PACS2:NM_015197:exon17:c.C1815T:p.Y605Y exonic ENSG00000179364 NA synonymous SNV ENSG00000179364:ENST00000551743:exon2:c.C357T:p.Y119Y,ENSG00000179364:ENST00000547217:exon16:c.C1725T:p.Y575Y,ENSG00000179364:ENST00000325438:exon17:c.C1815T:p.Y605Y,ENSG00000179364:ENST00000430725:exon17:c.C1590T:p.Y530Y,ENSG00000179364:ENST00000447393:exon17:c.C1827T:p.Y609Y,ENSG00000179364:ENST00000458164:exon17:c.C1827T:p.Y609Y Score=539;Name=lod=207 NA 14q32.33 NA NA NA NA rs143071112 0.0014 0.0014 0.001 0.00179712 0.005 NA 0.0043 0.0008 NA 0.0026 NA 0.0028 NA 0.0042 0.0049 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.07223 NA NA 0.004885 0.001135 NA NA NA 6.6525816 1 1 1 4 156634600 156634600 T C exonic GUCY1A3 NA synonymous SNV GUCY1A3:NM_001130684:exon6:c.T1437C:p.N479N,GUCY1A3:NM_001130682:exon7:c.T1437C:p.N479N,GUCY1A3:NM_001130683:exon7:c.T1437C:p.N479N,GUCY1A3:NM_001130685:exon7:c.T732C:p.N244N,GUCY1A3:NM_001130687:exon7:c.T1437C:p.N479N,GUCY1A3:NM_001256449:exon7:c.T1437C:p.N479N,GUCY1A3:NM_000856:exon8:c.T1437C:p.N479N exonic ENSG00000164116 NA synonymous SNV ENSG00000164116:ENST00000513574:exon6:c.T1437C:p.N479N,ENSG00000164116:ENST00000296518:exon7:c.T1437C:p.N479N,ENSG00000164116:ENST00000393832:exon7:c.T663C:p.N221N,ENSG00000164116:ENST00000455639:exon7:c.T1437C:p.N479N,ENSG00000164116:ENST00000506455:exon7:c.T1437C:p.N479N,ENSG00000164116:ENST00000511507:exon7:c.T1437C:p.N479N,ENSG00000164116:ENST00000511108:exon8:c.T1437C:p.N479N NA NA 4q32.1 Score=775;Name=V$ER_Q6 NA NA NA rs143472664 0.0041 0.0041 0.001 0.00239617 0.006 NA 0.0072 NA 0.001 0.01 NA 0.01 0.002 0.0036 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.52329 NA NA 0.005 0.000681 NA NA NA 6.6520666 1 1 1 20 62319919 62319919 G A exonic RTEL1 NA synonymous SNV RTEL1:NM_016434:exon21:c.G1761A:p.P587P,RTEL1:NM_032957:exon21:c.G1833A:p.P611P exonic ENSG00000026036,ENSG00000258366 NA synonymous SNV ENSG00000258366:ENST00000425905:exon2:c.G87A:p.P29P,ENSG00000026036:ENST00000492259:exon19:c.G1845A:p.P615P,ENSG00000026036:ENST00000482936:exon20:c.G1761A:p.P587P,ENSG00000258366:ENST00000318100:exon21:c.G1761A:p.P587P,ENSG00000258366:ENST00000360203:exon21:c.G1761A:p.P587P,ENSG00000258366:ENST00000370018:exon21:c.G1761A:p.P587P,ENSG00000258366:ENST00000508582:exon21:c.G1833A:p.P611P NA NA 20q13.33 NA Name=Pol2,Pol2(phosphoS2) NA NA rs116900568 0.0014 0.0014 NA 0.00179712 0.006 NA 0.0043 NA NA 0.004 NA NA NA 0.0041 0.0049 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.542143 NA NA 0.0049 0.000456 ID=COSM35349;OCCURENCE=1(central_nervous_system) NA NA 6.6516666 1 1 1 19 38189694 38189694 G A exonic ZNF607 NA synonymous SNV ZNF607:NM_001172677:exon5:c.C1335T:p.Y445Y,ZNF607:NM_032689:exon5:c.C1338T:p.Y446Y exonic ENSG00000198182 NA synonymous SNV ENSG00000198182:ENST00000355202:exon5:c.C1338T:p.Y446Y,ENSG00000198182:ENST00000395835:exon5:c.C1335T:p.Y445Y Score=414;Name=lod=64 NA 19q13.12 NA NA NA NA rs117357379 0.0037 0.0037 0 0.00279553 0.006 NA 0.0101 0.0008 NA 0.01 NA 0.01 NA 0.0034 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.15107 NA NA 0.005698 0.000908 NA 0.007 NA 6.6515686 4 1 1 15 86262383 86262383 G A exonic AKAP13 NA synonymous SNV AKAP13:NM_001270546:exon15:c.G1941A:p.A647A,AKAP13:NM_006738:exon23:c.G6090A:p.A2030A,AKAP13:NM_007200:exon23:c.G6078A:p.A2026A exonic ENSG00000170776 NA synonymous SNV ENSG00000170776:ENST00000394510:exon10:c.G813A:p.A271A,ENSG00000170776:ENST00000361243:exon23:c.G6090A:p.A2030A,ENSG00000170776:ENST00000394518:exon23:c.G6078A:p.A2026A NA NA 15q25.3 NA NA Name=2 NA rs79991499 0.0046 0.0046 0.009 0.00239617 0.007 NA 0.0058 0.0008 NA 0.01 NA 0.01 0.002 0.003 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.582599 NA NA 0.00535 0.001362 NA 0.014 NA 6.6513166 14 1 1 7 33055315 33055315 C T exonic NT5C3A NA synonymous SNV NT5C3A:NM_001002010:exon8:c.G876A:p.E292E,NT5C3A:NM_001002009:exon9:c.G759A:p.E253E,NT5C3A:NM_016489:exon9:c.G759A:p.E253E,NT5C3A:NM_001166118:exon10:c.G723A:p.E241E exonic ENSG00000122643 NA synonymous SNV ENSG00000122643:ENST00000242210:exon8:c.G876A:p.E292E,ENSG00000122643:ENST00000405342:exon8:c.G759A:p.E253E,ENSG00000122643:ENST00000396152:exon9:c.G759A:p.E253E,ENSG00000122643:ENST00000381626:exon10:c.G723A:p.E241E,ENSG00000122643:ENST00000409467:exon10:c.G723A:p.E241E Score=622;Name=lod=451 NA 7p14.3 NA NA NA NA rs72555746 0.0023 0.0023 0.002 0.00938498 0.004 0.002 0.0029 NA 0.0399 0.004 NA 0.01 NA 0.0076 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.69355 NA NA 0.004302 0.000908 NA 0.014 NA 6.6507646 4 2 2 7 32590951 32590951 G C exonic AVL9 NA synonymous SNV AVL9:NM_015060:exon5:c.G378C:p.L126L exonic ENSG00000105778 NA synonymous SNV ENSG00000105778:ENST00000446718:exon4:c.G171C:p.L57L,ENSG00000105778:ENST00000318709:exon5:c.G378C:p.L126L,ENSG00000105778:ENST00000404479:exon5:c.G378C:p.L126L,ENSG00000105778:ENST00000409301:exon5:c.G378C:p.L126L Score=662;Name=lod=655 NA 7p14.3 NA NA NA NA rs146342571 0.0018 0.0018 NA 0.00119808 0.003 NA 0.0029 NA 0.001 0.0013 NA 0.01 0.002 0.0048 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.825969 NA NA 0.008265 0.001589 NA 0.007 NA 6.6506016 1 1 1 1 110256162 110256162 C G exonic GSTM5 NA synonymous SNV GSTM5:NM_000851:exon4:c.C234G:p.R78R exonic ENSG00000134201 NA synonymous SNV ENSG00000134201:ENST00000369813:exon2:c.C111G:p.R37R,ENSG00000134201:ENST00000256593:exon4:c.C234G:p.R78R,ENSG00000134201:ENST00000369812:exon4:c.C291G:p.R97R Score=551;Name=lod=231 NA 1p13.3 NA NA NA NA rs144839885 0.0027 0.0027 NA 0.0071885 0.0089 NA 0.0058 NA 0.0235 0.004 NA 0.01 0.002 0.0079 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.01377 NA NA NA NA NA NA NA 6.6498666 2 1 1 9 3257122 3257122 C T exonic RFX3 NA synonymous SNV RFX3:NM_002919:exon15:c.G1683A:p.Q561Q,RFX3:NM_134428:exon15:c.G1683A:p.Q561Q exonic ENSG00000080298 NA synonymous SNV ENSG00000080298:ENST00000449234:exon1:c.G78A:p.Q26Q,ENSG00000080298:ENST00000458034:exon4:c.G402A:p.Q134Q,ENSG00000080298:ENST00000358730:exon13:c.G1683A:p.Q561Q,ENSG00000080298:ENST00000302303:exon15:c.G1683A:p.Q561Q,ENSG00000080298:ENST00000382004:exon15:c.G1683A:p.Q561Q Score=758;Name=lod=1604 NA 9p24.2 NA NA NA NA rs35483263 0.0018 0.0018 0.001 0.00119808 0.005 NA NA NA 0.001 0.01 NA NA NA 0.0044 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.124845 NA NA 0.007442 0.000908 NA NA NA 6.6498246 2 1 1 11 65304124 65304124 C T exonic SCYL1 NA synonymous SNV SCYL1:NM_001048218:exon13:c.C1719T:p.A573A,SCYL1:NM_020680:exon13:c.C1719T:p.A573A exonic ENSG00000142186 NA synonymous SNV ENSG00000142186:ENST00000528545:exon2:c.C138T:p.A46A,ENSG00000142186:ENST00000527009:exon12:c.C1290T:p.A430A,ENSG00000142186:ENST00000270176:exon13:c.C1719T:p.A573A,ENSG00000142186:ENST00000279270:exon13:c.C1719T:p.A573A,ENSG00000142186:ENST00000420247:exon13:c.C1719T:p.A573A,ENSG00000142186:ENST00000524944:exon13:c.C1719T:p.A573A,ENSG00000142186:ENST00000525364:exon13:c.C1719T:p.A573A,ENSG00000142186:ENST00000527630:exon13:c.C1719T:p.A573A,ENSG00000142186:ENST00000533862:exon13:c.C1719T:p.A573A Score=514;Name=lod=163 NA 11q13.1 NA NA NA NA rs56296579 0.0037 0.0037 0.005 0.00239617 0.008 NA 0.0029 NA 0.002 0.01 NA 0.0028 NA 0.0041 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.713746 1.713746 NA 0.00567 0.001405 NA NA NA 6.6488966 2 1 1 1 29040799 29040799 A G exonic GMEB1 NA synonymous SNV GMEB1:NM_006582:exon10:c.A1236G:p.P412P,GMEB1:NM_024482:exon10:c.A1206G:p.P402P exonic ENSG00000162419 NA synonymous SNV ENSG00000162419:ENST00000294409:exon10:c.A1236G:p.P412P,ENSG00000162419:ENST00000361872:exon10:c.A1206G:p.P402P,ENSG00000162419:ENST00000373816:exon10:c.A1206G:p.P402P NA NA 1p35.3 Score=960;Name=V$AP2REP_01 NA NA NA rs16837667 0.0005 0.0005 NA 0.00219649 0.004 NA 0.0014 NA 0.0061 0.0013 NA NA NA 0.0063 0.0083 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.437808 NA NA 0.008256 0.001135 NA NA NA 6.6481106 1 1 1 1 154744807 154744807 C T exonic KCNN3 NA synonymous SNV KCNN3:NM_001204087:exon3:c.G1092A:p.L364L,KCNN3:NM_002249:exon3:c.G1092A:p.L364L,KCNN3:NM_170782:exon3:c.G177A:p.L59L exonic ENSG00000143603 NA synonymous SNV ENSG00000143603:ENST00000271915:exon3:c.G1092A:p.L364L,ENSG00000143603:ENST00000358505:exon3:c.G153A:p.L51L,ENSG00000143603:ENST00000361147:exon3:c.G177A:p.L59L Score=625;Name=lod=462 NA 1q21.3 NA NA NA NA rs1051614 NA NA NA 0.00439297 0.0089 NA 0.0101 0.0015 0.0041 NA NA NA NA 0.0099 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2.605586 2.605586 NA NA NA NA 0.007 NA 6.6478666 4 2 1 2 17962924 17962924 C T exonic GEN1 NA synonymous SNV GEN1:NM_001130009:exon14:c.C2445T:p.Y815Y,GEN1:NM_182625:exon14:c.C2445T:p.Y815Y exonic ENSG00000178295 NA synonymous SNV ENSG00000178295:ENST00000317402:exon14:c.C2445T:p.Y815Y,ENSG00000178295:ENST00000381254:exon14:c.C2445T:p.Y815Y NA NA 2p24.2 NA Name=FOXA2_(SC-6554),FOXA1_(C-20),FOXA1_(SC-101058) NA NA rs148781334 0.01 0.01 0.003 0.00339457 0.0089 NA 0.0072 NA 0.0031 0.01 NA 0.01 NA 0.0044 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.130331 NA NA 0.006395 0.001816 NA NA NA 6.6469716 6 1 1 15 42632915 42632915 A G exonic GANC NA synonymous SNV GANC:NM_198141:exon18:c.A2115G:p.E705E exonic ENSG00000214013 NA synonymous SNV ENSG00000214013:ENST00000318010:exon18:c.A2115G:p.E705E Score=369;Name=lod=42 NA 15q15.1 NA NA NA NA rs117264272 0.0037 0.0037 0.007 0.00319489 0.005 NA 0.0086 NA 0.0051 0.01 NA 0.01 NA 0.0063 0.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.214277 NA NA 0.008607 0.001589 NA 0.014 NA 6.6467596 6 1 1 2 233347590 233347590 C T exonic ECEL1 NA synonymous SNV ECEL1:NM_004826:exon10:c.G1656A:p.K552K exonic ENSG00000171551 NA synonymous SNV ENSG00000171551:ENST00000409941:exon9:c.G1656A:p.K552K,ENSG00000171551:ENST00000304546:exon10:c.G1656A:p.K552K Score=569;Name=lod=274 NA 2q37.1 NA NA NA NA rs1190429 0.0032 0.0032 0.001 0.00239617 0.0089 NA 0.0043 NA NA 0.01 NA 0.01 NA 0.0032 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.059892 NA NA 0.008023 0.001362 NA NA NA 6.6465436 3 1 1 19 53740849 53740849 A G exonic ZNF677 NA synonymous SNV ZNF677:NM_182609:exon5:c.T1131C:p.C377C exonic ENSG00000197928 NA synonymous SNV ENSG00000197928:ENST00000333952:exon5:c.T1131C:p.C377C,ENSG00000197928:ENST00000598513:exon5:c.T1131C:p.C377C NA NA 19q13.42 NA Name=SETDB1,KAP1,ZNF274 NA NA rs147088386 0.01 0.01 0.003 0.00339457 0.0099 NA 0.0058 0.0008 0.002 0.01 NA 0.01 NA 0.0052 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.711707 NA NA 0.00593 0.000908 ID=COSM1396076;OCCURENCE=1(large_intestine) NA NA 6.6456366 6 2 1 2 173352458 173352458 C G exonic ITGA6 NA synonymous SNV ITGA6:NM_000210:exon17:c.C2247G:p.V749V,ITGA6:NM_001079818:exon17:c.C2247G:p.V749V exonic ENSG00000091409 NA synonymous SNV ENSG00000091409:ENST00000264107:exon17:c.C2247G:p.V749V,ENSG00000091409:ENST00000343713:exon17:c.C2232G:p.V744V,ENSG00000091409:ENST00000409080:exon17:c.C2247G:p.V749V,ENSG00000091409:ENST00000409532:exon17:c.C1890G:p.V630V,ENSG00000091409:ENST00000458358:exon17:c.C2232G:p.V744V,ENSG00000091409:ENST00000264106:exon18:c.C2364G:p.V788V,ENSG00000091409:ENST00000375221:exon18:c.C2364G:p.V788V,ENSG00000091409:ENST00000442250:exon18:c.C2364G:p.V788V Score=531;Name=lod=191 NA 2q31.1 NA NA NA NA rs61748247 0.0032 0.0032 0.004 0.00459265 0.008 NA 0.0014 NA 0.0143 0.01 NA NA NA 0.0053 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.958749 NA NA 0.007791 0.00227 NA NA NA 6.6455756 3 1 1 12 42491379 42491379 T A exonic GXYLT1 NA synonymous SNV GXYLT1:NM_001099650:exon6:c.A933T:p.R311R,GXYLT1:NM_173601:exon7:c.A1026T:p.R342R exonic ENSG00000151233 NA synonymous SNV ENSG00000151233:ENST00000280876:exon6:c.A933T:p.R311R,ENSG00000151233:ENST00000398675:exon7:c.A1026T:p.R342R Score=575;Name=lod=289 NA 12q12 NA NA NA NA rs139072942 0.0046 0.0046 0.005 0.00319489 0.008 NA 0.0072 NA 0.0031 0.01 NA 0.01 NA 0.0053 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.340794 NA NA 0.008177 0.000539 NA NA NA 6.6451896 3 1 1 11 4615949 4615949 G A exonic OR52I1 NA synonymous SNV OR52I1:NM_001005169:exon1:c.G681A:p.R227R exonic ENSG00000232268 NA synonymous SNV ENSG00000232268:ENST00000530443:exon1:c.G681A:p.R227R,ENSG00000232268:ENST00000450052:exon2:c.G753A:p.R251R Score=343;Name=lod=33 NA 11p15.4 NA NA NA NA rs200573064 NA NA 0.003 0.00319489 0.0109 0.001 0.0043 NA 0.001 NA NA NA NA 0.0039 0.007 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.079148 NA NA 0.00698 0.000454 NA NA NA 6.6448866 1 1 1 19 3661916 3661916 G A exonic PIP5K1C NA synonymous SNV PIP5K1C:NM_001195733:exon4:c.C303T:p.D101D,PIP5K1C:NM_012398:exon4:c.C303T:p.D101D exonic ENSG00000186111 NA synonymous SNV ENSG00000186111:ENST00000335312:exon4:c.C303T:p.D101D,ENSG00000186111:ENST00000537021:exon4:c.C303T:p.D101D,ENSG00000186111:ENST00000539785:exon4:c.C303T:p.D101D,ENSG00000186111:ENST00000589578:exon4:c.C303T:p.D101D Score=606;Name=lod=388 NA 19p13.3 NA NA NA NA rs115136413 0.0046 0.0046 0.008 0.00219649 0.0089 NA 0.0014 NA 0.001 0.01 NA 0.0028 NA 0.0059 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.17103 NA NA 0.008256 0.001589 NA NA NA 6.6436106 5 1 1 3 120121656 120121656 G A exonic FSTL1 NA synonymous SNV FSTL1:NM_007085:exon9:c.C804T:p.D268D exonic ENSG00000163430 NA synonymous SNV ENSG00000163430:ENST00000424703:exon8:c.C699T:p.D233D,ENSG00000163430:ENST00000295633:exon9:c.C804T:p.D268D NA NA 3q13.33 Score=777;Name=V$PAX2_01 NA NA NA rs139355917 0.0037 0.0037 0.003 0.00239617 0.0099 NA 0.0014 0.0008 NA 0.01 NA NA NA 0.0083 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.539513 NA NA 0.008837 0.00227 NA NA NA 6.6396296 2 1 1 10 135086073 135086073 T C exonic ADAM8 NA nonsynonymous SNV ADAM8:NM_001164490:exon8:c.A605G:p.N202S,ADAM8:NM_001109:exon9:c.A722G:p.N241S,ADAM8:NM_001164489:exon9:c.A722G:p.N241S exonic ENSG00000151651 NA nonsynonymous SNV ENSG00000151651:ENST00000485491:exon8:c.A605G:p.N202S,ENSG00000151651:ENST00000415217:exon9:c.A722G:p.N241S,ENSG00000151651:ENST00000445355:exon9:c.A722G:p.N241S NA NA 10q26.3 NA NA NA NA rs143275708 NA NA NA 0.000399361 0.002 NA NA NA NA NA NA NA NA 0.0007 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.321908 1.321908 0.27 0.001279 0.000227 NA NA NA 6.3293544 1 1 1 4 86797 86797 A G exonic ZNF595 NA unknown UNKNOWN ncRNA_exonic ENSG00000255436 NA NA NA NA NA 4p16.3 NA Name=SETDB1,ZNF274,KAP1 NA NA rs180742908 0.0037 0.0037 NA 0.00199681 0.0089 NA 0.0014 NA NA 0.01 NA 0.0028 NA 0.0054 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.073377 NA NA 0.006232 0.001873 NA NA NA 5.8128013 4 3 1 2 103300756 103300756 G A exonic SLC9A2 NA synonymous SNV SLC9A2:NM_003048:exon5:c.G1386A:p.T462T exonic ENSG00000115616 NA synonymous SNV ENSG00000115616:ENST00000233969:exon5:c.G1386A:p.T462T NA NA 2q12.1 NA NA NA NA rs201428753 0.0005 0.0005 NA 0.000199681 NA NA NA 0.0008 NA NA NA NA 0.002 0.00004119 0.002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.287988 NA NA NA NA NA NA NA 5.6666254 2 1 1 20 23669406 23669406 C T exonic CST4 NA synonymous SNV CST4:NM_001899:exon1:c.G201A:p.P67P exonic ENSG00000101441 NA synonymous SNV ENSG00000101441:ENST00000217423:exon1:c.G201A:p.P67P NA NA 20p11.21 NA NA NA NA rs191660510 0.0005 0.0005 NA 0.000599042 NA NA 0.0014 0.0015 NA NA NA 0.0028 NA 0.0001 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.273506 NA NA 0 0.000227 NA 0.007 NA 5.6665666 2 2 1 16 3487470 3487470 A G exonic ZNF597 NA synonymous SNV ZNF597:NM_152457:exon4:c.T229C:p.L77L exonic ENSG00000167981 NA synonymous SNV ENSG00000167981:ENST00000301744:exon4:c.T229C:p.L77L NA NA 16p13.3 NA NA NA NA rs369212733 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00003299 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.287098 NA NA 0.000116 0 NA NA NA 5.6665176 1 1 1 16 1575309 1575309 C T exonic IFT140 NA synonymous SNV IFT140:NM_014714:exon22:c.G2787A:p.T929T exonic ENSG00000187535 NA synonymous SNV ENSG00000187535:ENST00000361339:exon4:c.G369A:p.T123T,ENSG00000187535:ENST00000426508:exon22:c.G2787A:p.T929T NA NA 16p13.3 NA NA NA NA rs374661866 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.799387 NA NA NA NA NA NA NA 5.6664666 13 1 1 11 101833008 101833008 A G exonic KIAA1377 NA synonymous SNV KIAA1377:NM_020802:exon6:c.A1242G:p.T414T exonic ENSG00000110318 NA synonymous SNV ENSG00000110318:ENST00000537689:exon3:c.A645G:p.T215T,ENSG00000110318:ENST00000263468:exon6:c.A1242G:p.T414T NA NA 11q22.1 NA NA NA NA rs373938848 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00009149 0.0002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.290791 NA NA 0.000116 0.000227 NA NA NA 5.6664591 4 1 1 1 229738080 229738080 G A exonic TAF5L NA synonymous SNV TAF5L:NM_001025247:exon4:c.C834T:p.P278P,TAF5L:NM_014409:exon4:c.C834T:p.P278P exonic ENSG00000135801 NA synonymous SNV ENSG00000135801:ENST00000366676:exon3:c.C834T:p.P278P,ENSG00000135801:ENST00000258281:exon4:c.C834T:p.P278P,ENSG00000135801:ENST00000366675:exon4:c.C834T:p.P278P NA NA 1q42.13 NA NA NA NA rs150230938 0.0018 0.0018 0.01 0.000798722 NA NA NA 0.003 NA 0.0013 NA NA 0.01 0.00009886 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.419641 NA NA 0.000116 0.000227 NA 0.007 NA 5.6664517 3 1 1 14 51259463 51259463 C T exonic NIN NA synonymous SNV NIN:NM_016350:exon5:c.G402A:p.R134R,NIN:NM_020921:exon5:c.G402A:p.R134R,NIN:NM_182944:exon5:c.G402A:p.R134R,NIN:NM_182946:exon5:c.G402A:p.R134R exonic ENSG00000100503 NA synonymous SNV ENSG00000100503:ENST00000530997:exon3:c.G402A:p.R134R,ENSG00000100503:ENST00000382043:exon4:c.G402A:p.R134R,ENSG00000100503:ENST00000245441:exon5:c.G402A:p.R134R,ENSG00000100503:ENST00000324330:exon5:c.G402A:p.R134R,ENSG00000100503:ENST00000382041:exon5:c.G402A:p.R134R,ENSG00000100503:ENST00000389868:exon5:c.G402A:p.R134R,ENSG00000100503:ENST00000453196:exon5:c.G402A:p.R134R,ENSG00000100503:ENST00000453401:exon5:c.G288A:p.R96R,ENSG00000100503:ENST00000476352:exon5:c.G402A:p.R134R NA NA 14q22.1 NA NA NA NA rs146441468 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0002 0.0001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.168968 NA NA 0.000116 0 ID=COSM1370038,COSM1370040,COSM1370039;OCCURENCE=1(large_intestine) NA NA 5.6663506 12 2 2 16 601653 601653 C T exonic SOLH NA synonymous SNV SOLH:NM_005632:exon9:c.C2334T:p.G778G exonic ENSG00000103326 NA synonymous SNV ENSG00000103326:ENST00000219611:exon9:c.C2334T:p.G778G NA NA 16p13.3 NA NA NA NA rs144075530 0.0027 0.0027 0.006 0.00259585 NA NA 0.0014 0.0091 NA NA NA NA 0.01 0.0009 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.471488 NA NA 0.000233 0.008864 NA 0.007 NA 5.6655336 6 5 1 19 53432483 53432483 G A exonic ZNF816-ZNF321P NA synonymous SNV ZNF816-ZNF321P:NM_001202473:exon4:c.C375T:p.H125H exonic ENSG00000180257,ENSG00000221874 NA synonymous SNV ENSG00000180257:ENST00000549216:exon2:c.C168T:p.H56H,ENSG00000221874:ENST00000391777:exon4:c.C375T:p.H125H,ENSG00000180257:ENST00000434371:exon5:c.C375T:p.H125H NA NA 19q13.41 NA NA NA NA rs373329746 NA NA NA NA NA NA NA NA NA NA NA NA NA 0.0006 0.0007 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.776614 NA NA 0.000698 0 NA NA NA 5.6653686 1 1 1 17 7365991 7365991 G A exonic ZBTB4 NA synonymous SNV ZBTB4:NM_001128833:exon4:c.C2310T:p.C770C,ZBTB4:NM_020899:exon4:c.C2310T:p.C770C exonic ENSG00000174282 NA synonymous SNV ENSG00000174282:ENST00000311403:exon4:c.C2310T:p.C770C,ENSG00000174282:ENST00000380599:exon4:c.C2310T:p.C770C NA NA 17p13.1 NA NA NA NA rs138237886 0.0023 0.0023 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA 0.01 0.0003 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.216933 NA NA NA NA NA NA NA 5.6653666 2 1 1 19 38851210 38851210 C T exonic CATSPERG NA synonymous SNV CATSPERG:NM_021185:exon15:c.C1690T:p.L564L exonic ENSG00000099338 NA synonymous SNV ENSG00000099338:ENST00000410018:exon14:c.C1570T:p.L524L,ENSG00000099338:ENST00000409235:exon15:c.C1690T:p.L564L,ENSG00000099338:ENST00000409410:exon15:c.C1690T:p.L564L NA NA 19q13.2 NA NA NA NA rs200137453 0.0009 0.0009 NA 0.000599042 0.001 NA 0.0029 NA NA 0.0013 NA 0.0028 NA 0.0004 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.092291 NA NA NA NA NA NA NA 5.6652666 6 2 1 9 117063988 117063988 C T exonic COL27A1 NA synonymous SNV COL27A1:NM_032888:exon55:c.C4836T:p.P1612P exonic ENSG00000196739 NA synonymous SNV ENSG00000196739:ENST00000356083:exon55:c.C4836T:p.P1612P NA NA 9q32 NA NA NA NA rs142505089 0.0005 0.0005 0.001 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0003 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.678869 NA NA 0.000116 0 ID=COSM1166305;OCCURENCE=1(large_intestine) NA NA 5.6652506 9 1 1 10 15255283 15255283 G A exonic FAM171A1 NA synonymous SNV FAM171A1:NM_001010924:exon8:c.C2304T:p.P768P exonic ENSG00000148468 NA synonymous SNV ENSG00000148468:ENST00000378116:exon8:c.C2304T:p.P768P NA NA 10p13 NA NA NA NA rs139938475 0.0005 0.0005 NA 0.000199681 0.001 NA NA NA NA 0.0013 NA NA NA 0.0002 0.0013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.670128 NA NA 0.000233 0 NA NA NA 5.6652336 3 1 1 14 65253668 65253668 G A exonic SPTB NA synonymous SNV SPTB:NM_000347:exon15:c.C3015T:p.A1005A,SPTB:NM_001024858:exon15:c.C3015T:p.A1005A exonic ENSG00000070182 NA synonymous SNV ENSG00000070182:ENST00000389720:exon15:c.C3015T:p.A1005A,ENSG00000070182:ENST00000389721:exon15:c.C3015T:p.A1005A,ENSG00000070182:ENST00000389722:exon15:c.C3015T:p.A1005A,ENSG00000070182:ENST00000542895:exon16:c.C3015T:p.A1005A,ENSG00000070182:ENST00000556626:exon16:c.C3015T:p.A1005A NA NA 14q23.3 NA NA NA NA rs147235045 0.0009 0.0009 0 0.00139776 0.001 NA 0.0014 NA 0.0051 0.0013 NA 0.0028 NA 0.0012 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.339591 NA NA 0.001279 0.000227 NA 0.007 NA 5.6631876 2 1 1 13 37012831 37012831 G A exonic CCNA1 NA synonymous SNV CCNA1:NM_001111045:exon5:c.G717A:p.T239T,CCNA1:NM_001111046:exon5:c.G588A:p.T196T,CCNA1:NM_001111047:exon5:c.G588A:p.T196T,CCNA1:NM_003914:exon5:c.G720A:p.T240T exonic ENSG00000133101 NA synonymous SNV ENSG00000133101:ENST00000255465:exon5:c.G720A:p.T240T,ENSG00000133101:ENST00000418263:exon5:c.G717A:p.T239T,ENSG00000133101:ENST00000440264:exon5:c.G588A:p.T196T,ENSG00000133101:ENST00000449823:exon5:c.G588A:p.T196T NA NA 13q13.3 NA NA NA NA rs61755283 0.0037 0.0037 0.004 0.00359425 0.002 NA 0.0043 0.0098 NA 0.0013 NA NA 0.01 0.0013 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.450022 NA NA 0.000698 0.001816 NA 0.007 NA 5.6626686 4 2 1 12 56748273 56748273 G A exonic STAT2 NA synonymous SNV STAT2:NM_005419:exon8:c.C759T:p.H253H,STAT2:NM_198332:exon8:c.C747T:p.H249H exonic ENSG00000170581 NA synonymous SNV ENSG00000170581:ENST00000314128:exon8:c.C759T:p.H253H,ENSG00000170581:ENST00000418572:exon8:c.C747T:p.H249H,ENSG00000170581:ENST00000557235:exon8:c.C747T:p.H249H NA NA 12q13.3 NA NA NA NA rs147605088 0.0009 0.0009 NA 0.000599042 0.001 NA 0.0029 NA NA NA NA 0.01 NA 0.0018 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.033245 NA NA 0.001512 0.000454 NA NA NA 5.6623546 1 1 1 18 13068921 13068921 C T exonic CEP192 NA synonymous SNV CEP192:NM_032142:exon25:c.C4893T:p.P1631P exonic ENSG00000101639 NA synonymous SNV ENSG00000101639:ENST00000430049:exon15:c.C3468T:p.P1156P,ENSG00000101639:ENST00000510237:exon16:c.C3693T:p.P1231P,ENSG00000101639:ENST00000325971:exon23:c.C3105T:p.P1035P,ENSG00000101639:ENST00000506447:exon25:c.C4893T:p.P1631P NA NA 18p11.21 NA NA NA NA rs143041966 0.0014 0.0014 0.002 0.00119808 0.003 NA 0.0014 NA 0.002 0.0026 NA 0.0028 NA 0.001 0.0028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.068828 NA NA 0.000581 0 NA NA NA 5.6620856 8 1 1 7 4089011 4089011 G A exonic SDK1 NA synonymous SNV SDK1:NM_152744:exon18:c.G2634A:p.T878T exonic ENSG00000146555 NA synonymous SNV ENSG00000146555:ENST00000389531:exon18:c.G2634A:p.T878T,ENSG00000146555:ENST00000404826:exon18:c.G2634A:p.T878T NA NA 7p22.2 NA NA NA NA rs139642198 0.0009 0.0009 NA 0.000399361 0.002 NA NA NA NA 0.0026 NA NA NA 0.0021 0.0027 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.080055 NA NA 0.002674 0.000908 NA NA NA 5.6598926 17 1 1 7 47917126 47917126 T C exonic PKD1L1 NA synonymous SNV PKD1L1:NM_138295:exon22:c.A3624G:p.A1208A exonic ENSG00000158683 NA synonymous SNV ENSG00000158683:ENST00000289672:exon22:c.A3624G:p.A1208A NA NA 7p12.3 NA NA NA NA rs139854035 0.0027 0.0027 NA 0.00239617 0.005 NA 0.0101 NA NA 0.0026 NA 0.01 NA 0.0011 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.22408 NA NA 0.000814 0.000227 NA NA NA 5.6597526 31 1 1 20 31812949 31812949 C T exonic BPIFA3 NA synonymous SNV BPIFA3:NM_001042439:exon3:c.C324T:p.I108I,BPIFA3:NM_178466:exon4:c.C432T:p.I144I exonic ENSG00000131059 NA synonymous SNV ENSG00000131059:ENST00000375452:exon3:c.C324T:p.I108I,ENSG00000131059:ENST00000375454:exon4:c.C432T:p.I144I NA NA 20q11.21 NA NA NA NA rs147632261 0.01 0.01 0.008 0.00479233 0.004 NA 0.0029 0.0136 NA 0.01 NA 0.01 0.02 0.0019 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.130387 NA NA 0.001163 0.012256 NA 0.007 NA 5.6596036 7 1 1 3 195507993 195507993 G A exonic MUC4 NA synonymous SNV MUC4:NM_018406:exon2:c.C10458T:p.T3486T exonic ENSG00000145113 NA synonymous SNV ENSG00000145113:ENST00000462323:exon2:c.C10458T:p.T3486T,ENSG00000145113:ENST00000463781:exon2:c.C10458T:p.T3486T,ENSG00000145113:ENST00000466475:exon2:c.C10458T:p.T3486T,ENSG00000145113:ENST00000470451:exon2:c.C10458T:p.T3486T,ENSG00000145113:ENST00000475231:exon2:c.C10458T:p.T3486T,ENSG00000145113:ENST00000477086:exon2:c.C10458T:p.T3486T,ENSG00000145113:ENST00000477756:exon2:c.C10458T:p.T3486T,ENSG00000145113:ENST00000478156:exon2:c.C10458T:p.T3486T,ENSG00000145113:ENST00000479406:exon2:c.C10458T:p.T3486T,ENSG00000145113:ENST00000480843:exon2:c.C10458T:p.T3486T NA NA 3q29 NA NA NA NA rs201179949 NA NA NA 0.00179712 0.006 NA 0.0029 NA 0.001 NA NA NA NA 0.0038 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.60326 NA NA NA NA NA NA NA 5.6568666 8 2 1 12 130898844 130898844 G A exonic RIMBP2 NA synonymous SNV RIMBP2:NM_015347:exon14:c.C2478T:p.Y826Y exonic ENSG00000060709 NA synonymous SNV ENSG00000060709:ENST00000261655:exon14:c.C2478T:p.Y826Y NA NA 12q24.33 NA NA NA NA rs117753238 0.0027 0.0027 0 0.00219649 0.005 NA 0.0043 0.0023 NA 0.01 NA 0.01 NA 0.0025 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.252501 NA NA 0.002326 0.002043 NA NA NA 5.6568406 2 1 1 9 136337164 136337164 C G exonic SLC2A6 NA synonymous SNV SLC2A6:NM_001145099:exon9:c.G1317C:p.G439G,SLC2A6:NM_017585:exon10:c.G1503C:p.G501G exonic ENSG00000160326 NA synonymous SNV ENSG00000160326:ENST00000371897:exon9:c.G1317C:p.G439G,ENSG00000160326:ENST00000371899:exon10:c.G1503C:p.G501G NA NA 9q34.2 NA NA NA NA rs142001028 NA NA NA 0.000798722 0.003 NA 0.0014 NA NA NA NA NA NA 0.0025 0.0053 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.425845 NA NA 0.005349 0.001135 NA NA NA 5.6558176 2 2 2 14 96772075 96772075 G A exonic ATG2B NA synonymous SNV ATG2B:NM_018036:exon31:c.C4584T:p.P1528P exonic ENSG00000066739 NA synonymous SNV ENSG00000066739:ENST00000359933:exon31:c.C4584T:p.P1528P NA NA 14q32.2 NA NA NA NA rs146028674 0.0023 0.0023 NA 0.00199681 0.006 NA 0.0058 NA NA 0.004 NA 0.01 NA 0.0022 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.060957 NA NA 0.003372 0.001589 NA NA NA 5.6550946 4 1 1 9 20414298 20414298 A G exonic MLLT3 NA synonymous SNV MLLT3:NM_004529:exon5:c.T546C:p.S182S exonic ENSG00000171843 NA synonymous SNV ENSG00000171843:ENST00000380338:exon5:c.T546C:p.S182S,ENSG00000171843:ENST00000429426:exon5:c.T537C:p.S179S NA NA 9p21.3 NA NA NA NA rs143254940 NA NA NA 0.00139776 0.005 NA 0.0014 0.0008 NA NA NA NA NA 0.0027 0.004 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.504768 NA NA 0.003954 0.001135 ID=COSM1569325;OCCURENCE=1(large_intestine) NA NA 5.6550126 4 1 1 21 47664746 47664746 C T exonic MCM3AP NA synonymous SNV MCM3AP:NM_003906:exon23:c.G5013A:p.P1671P exonic ENSG00000160294 NA synonymous SNV ENSG00000160294:ENST00000291688:exon23:c.G5013A:p.P1671P,ENSG00000160294:ENST00000397708:exon24:c.G5013A:p.P1671P NA NA 21q22.3 NA NA NA NA rs17183255 0.0014 0.0014 0.002 0.000998403 0.005 NA NA NA NA 0.004 NA NA NA 0.0023 0.0045 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.475805 NA NA 0.004535 0.001362 NA NA NA 5.6548316 9 1 1 16 20996525 20996525 G A exonic DNAH3 NA synonymous SNV DNAH3:NM_017539:exon48:c.C7539T:p.D2513D exonic ENSG00000158486 NA synonymous SNV ENSG00000158486:ENST00000261383:exon48:c.C7539T:p.D2513D NA NA 16p12.3 NA NA NA NA rs139502385 0.0032 0.0032 0.004 0.00159744 0.005 NA 0.0029 NA 0.001 0.01 NA 0.01 NA 0.0029 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.247373 NA NA 0.004419 0.001817 ID=COSM434832,COSM434831;OCCURENCE=1(breast) NA NA 5.6543476 16 1 1 5 133901934 133901934 C T exonic PHF15 NA synonymous SNV PHF15:NM_015288:exon9:c.C1098T:p.D366D exonic ENSG00000043143 NA synonymous SNV ENSG00000043143:ENST00000282605:exon9:c.C1098T:p.D366D,ENSG00000043143:ENST00000361895:exon9:c.C1098T:p.D366D,ENSG00000043143:ENST00000395003:exon9:c.C1098T:p.D366D,ENSG00000043143:ENST00000402835:exon9:c.C1098T:p.D366D NA NA 5q31.1 NA NA NA NA rs148155246 0.0018 0.0018 NA 0.000798722 0.004 NA NA NA NA 0.01 NA NA NA 0.0046 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.824129 NA NA 0.003721 0.000454 NA NA NA 5.6543456 3 1 1 1 247835885 247835885 G C exonic OR13G1 NA synonymous SNV OR13G1:NM_001005487:exon1:c.C459G:p.S153S exonic ENSG00000197437 NA synonymous SNV ENSG00000197437:ENST00000359688:exon1:c.C459G:p.S153S NA NA 1q44 NA NA NA NA rs150242376 0.0009 0.0009 NA 0.000798722 0.004 NA NA NA NA 0.0026 NA NA NA 0.0036 0.0052 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.10829 NA NA 0.005233 0.000681 NA NA NA 5.6538336 6 1 1 5 32093082 32093082 G T exonic PDZD2 NA synonymous SNV PDZD2:NM_178140:exon20:c.G7797T:p.S2599S exonic ENSG00000133401 NA synonymous SNV ENSG00000133401:ENST00000282493:exon20:c.G7797T:p.S2599S,ENSG00000133401:ENST00000438447:exon21:c.G7797T:p.S2599S NA NA 5p13.3 NA NA NA NA rs149447762 0.0023 0.0023 NA 0.00199681 0.005 NA 0.0043 0.0008 0.001 0.0026 NA 0.01 0.002 0.0037 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.186449 NA NA 0.005465 0.001362 NA NA NA 5.6525016 18 2 1 15 42167165 42167165 T C exonic SPTBN5 NA synonymous SNV SPTBN5:NM_016642:exon23:c.A4377G:p.K1459K exonic ENSG00000137877 NA synonymous SNV ENSG00000137877:ENST00000320955:exon23:c.A4377G:p.K1459K NA NA 15q15.1 NA NA NA NA rs111958620 0.0023 0.0023 NA 0.00259585 0.004 NA 0.0043 NA 0.0061 0.004 NA 0.01 NA 0.0059 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.231043 NA NA 0.005874 0.000493 NA 0.007 NA 5.6508926 13 2 1 7 72985185 72985185 G A exonic TBL2 NA synonymous SNV TBL2:NM_012453:exon7:c.C996T:p.A332A exonic ENSG00000106638 NA synonymous SNV ENSG00000106638:ENST00000305632:exon7:c.C996T:p.A332A,ENSG00000106638:ENST00000432538:exon7:c.C888T:p.A296A NA NA 7q11.23 NA NA NA NA rs146437532 0.0046 0.0046 0.001 0.00279553 0.005 NA 0.013 NA NA 0.004 NA 0.02 NA 0.0047 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.243823 NA NA 0.006164 0.001816 NA NA NA 5.6508026 1 1 1 19 51875732 51875732 G A exonic NKG7 NA synonymous SNV NKG7:NM_005601:exon1:c.C58T:p.L20L exonic ENSG00000105374 NA synonymous SNV ENSG00000105374:ENST00000221978:exon1:c.C58T:p.L20L,ENSG00000105374:ENST00000595217:exon1:c.C58T:p.L20L,ENSG00000105374:ENST00000600427:exon1:c.C58T:p.L20L NA NA 19q13.41 NA NA NA NA rs147628882 0.0037 0.0037 NA 0.00239617 0.008 NA 0.0043 NA 0.001 0.01 NA 0.01 NA 0.0039 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.494658 NA NA 0.005116 0.001135 NA NA NA 5.6496506 1 1 1 21 35821849 35821849 C T exonic KCNE1 NA synonymous SNV KCNE1:NM_001127670:exon2:c.G84A:p.S28S,KCNE1:NM_001270404:exon2:c.G84A:p.S28S,KCNE1:NM_001127668:exon3:c.G84A:p.S28S,KCNE1:NM_001127669:exon3:c.G84A:p.S28S,KCNE1:NM_001270402:exon3:c.G84A:p.S28S,KCNE1:NM_001270403:exon3:c.G84A:p.S28S,KCNE1:NM_001270405:exon3:c.G84A:p.S28S,KCNE1:NM_000219:exon4:c.G84A:p.S28S exonic ENSG00000180509 NA synonymous SNV ENSG00000180509:ENST00000416357:exon2:c.G84A:p.S28S,ENSG00000180509:ENST00000337385:exon3:c.G84A:p.S28S,ENSG00000180509:ENST00000399284:exon3:c.G84A:p.S28S,ENSG00000180509:ENST00000399289:exon3:c.G84A:p.S28S,ENSG00000180509:ENST00000432085:exon3:c.G84A:p.S28S,ENSG00000180509:ENST00000399286:exon4:c.G84A:p.S28S NA NA 21q22.12 NA NA NA NA rs17173510 0.0041 0.0041 NA 0.00379393 0.0089 NA 0.0144 NA NA 0.01 NA 0.01 NA 0.0036 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.155574 NA NA 0.005581 0.001362 NA 0.007 NA 5.6485856 1 1 1 8 42323380 42323380 C T exonic SLC20A2 NA synonymous SNV SLC20A2:NM_001257180:exon3:c.G345A:p.T115T,SLC20A2:NM_001257181:exon3:c.G345A:p.T115T,SLC20A2:NM_006749:exon3:c.G345A:p.T115T exonic ENSG00000168575 NA synonymous SNV ENSG00000168575:ENST00000342228:exon3:c.G345A:p.T115T,ENSG00000168575:ENST00000520179:exon3:c.G345A:p.T115T,ENSG00000168575:ENST00000520262:exon3:c.G345A:p.T115T NA NA 8p11.21 NA NA NA NA rs34124953 0.0014 0.0014 NA 0.00519169 0.004 NA NA NA 0.0225 0.004 NA NA NA 0.007 0.0077 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.033093 NA NA 0.007674 0.000227 NA NA NA 5.6479926 1 1 1 19 43433676 43433676 G C exonic PSG7 NA nonsynonymous SNV PSG7:NM_001206650:exon2:c.C261G:p.N87K exonic ENSG00000221878 NA unknown UNKNOWN NA NA 19q13.31 NA NA NA NA rs146569565 0.0041 0.0041 0.002 0.00439297 0.008 0.0079 0.0043 NA 0.0031 0.01 0.0035 0.01 NA 0.0059 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -1.180333 NA NA 0.007444 0.00159 NA NA NA 5.6453227 17 4 1 11 120929151 120929151 C G exonic TBCEL NA synonymous SNV TBCEL:NM_001130047:exon6:c.C810G:p.T270T,TBCEL:NM_152715:exon6:c.C810G:p.T270T exonic ENSG00000154114 NA synonymous SNV ENSG00000154114:ENST00000422003:exon6:c.C810G:p.T270T,ENSG00000154114:ENST00000529397:exon6:c.C810G:p.T270T,ENSG00000154114:ENST00000533134:exon6:c.C111G:p.T37T NA NA 11q23.3 NA NA NA NA rs35380371 0.01 0.01 0.006 0.00938498 0.008 NA 0.0072 0.0212 0.0061 0.01 NA 0.01 0.02 0.0069 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.969775 NA NA 0.00849 0.01793 NA 0.007 NA 5.6432766 1 1 1 1 161641267 161641267 G A exonic FCGR2B NA synonymous SNV FCGR2B:NM_001190828:exon2:c.G198A:p.G66G,FCGR2B:NM_001002273:exon3:c.G216A:p.G72G,FCGR2B:NM_001002274:exon3:c.G219A:p.G73G,FCGR2B:NM_001002275:exon3:c.G216A:p.G72G,FCGR2B:NM_004001:exon3:c.G219A:p.G73G exonic ENSG00000072694 NA synonymous SNV ENSG00000072694:ENST00000367960:exon2:c.G198A:p.G66G,ENSG00000072694:ENST00000367961:exon2:c.G198A:p.G66G,ENSG00000072694:ENST00000236937:exon3:c.G219A:p.G73G,ENSG00000072694:ENST00000358671:exon3:c.G219A:p.G73G,ENSG00000072694:ENST00000367962:exon3:c.G219A:p.G73G,ENSG00000072694:ENST00000403078:exon3:c.G219A:p.G73G,ENSG00000072694:ENST00000428605:exon3:c.G219A:p.G73G NA NA 1q23.3 NA NA NA NA rs144573139 0.01 0.01 0.003 0.00379393 0.0139 NA 0.0014 NA 0.0041 0.02 NA NA NA 0.0049 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.134527 NA NA 0.007326 0.000454 NA NA NA 5.6405406 1 1 1 18 43243802 43243802 G A exonic SLC14A2 NA synonymous SNV SLC14A2:NM_007163:exon11:c.G1404A:p.S468S,SLC14A2:NM_001242692:exon12:c.G1404A:p.S468S exonic ENSG00000132874 NA synonymous SNV ENSG00000132874:ENST00000255226:exon11:c.G1404A:p.S468S,ENSG00000132874:ENST00000586448:exon12:c.G1404A:p.S468S NA NA 18q12.3 NA NA NA NA rs143263878 0.0046 0.0046 0.005 0.00798722 0.0149 NA 0.0101 0.0008 0.0174 0.01 NA 0.01 NA 0.0094 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.93294 NA NA 0.007209 0.002043 NA 0.007 NA 5.6351576 8 1 1 11 128840872 128840872 G A exonic ARHGAP32 NA synonymous SNV ARHGAP32:NM_014715:exon13:c.C3147T:p.R1049R,ARHGAP32:NM_001142685:exon22:c.C4194T:p.R1398R exonic ENSG00000134909 NA synonymous SNV ENSG00000134909:ENST00000527272:exon12:c.C3147T:p.R1049R,ENSG00000134909:ENST00000392657:exon13:c.C3147T:p.R1049R,ENSG00000134909:ENST00000310343:exon22:c.C4194T:p.R1398R NA NA 11q24.3 NA NA NA NA rs61748829 0.01 0.01 0.006 0.00399361 0.0179 NA NA NA 0.002 0.02 NA NA NA 0.0099 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -0.179501 NA NA 0.009891 0.002726 NA NA NA 5.6289756 2 1 1