Chr Start End Ref Alt Func.refGene Gene.refGene GeneDetail.refGene ExonicFunc.refGene AAChange.refGene phastConsElements46way genomicSuperDups esp6500si_all 1000g2012apr_all cosmic65 nci60 snp137 avsift LJB_PhyloP LJB_PhyloP_Pred LJB_SIFT LJB_SIFT_Pred LJB_PolyPhen2 LJB_PolyPhen2_Pred LJB_LRT LJB_LRT_Pred LJB_MutationTaster LJB_MutationTaster_Pred LJB_GERP++ tumor_ref tumor_var misRate_tumor normal_ref normal_var misRate_normal p-value(Fisher) strandRatio_tumor strandRatio_normal tumor_realign(total,ref,alt,freq) normal_realign(total,ref,alt,freq) p-value(Realaign) p-value(EBcall) chr1 17328599 17328599 C T splicing ATP13A2 NM_022089:exon9:c.636-1G>A,NM_001141974:exon9:c.621-1G>A,NM_001141973:exon9:c.621-1G>A Score=340;Name=lod=32 127 30 0.191 134 0 0.000 2.72292441240254363e-09 0.500 --- 131,104,27,0.206 115,115,0,0.000 7.746 15.477 chr1 32134431 32134431 G A exonic COL16A1 nonsynonymous SNV COL16A1:NM_001856:exon50:c.C3221T:p.T1074M Score=520;Name=lod=173 0.04 0.244326 N 0.96 D 0.501265 NA 0.980853 N 0.246196 N -4.1 59 30 0.337 99 0 0.000 8.18341143198027646e-12 0.433 --- 77,52,25,0.325 80,80,0,0.000 8.765 60 chr1 35223214 35223214 G A exonic GJB5 nonsynonymous SNV GJB5:NM_005268:exon2:c.G283A:p.V95M Score=534;Name=lod=198 0.000077 rs137982501 0 0.999716 C 1.0 D 0.997 D 1.0 D 0.851687 D 5.46 144 44 0.234 199 0 0.000 8.52823076711253681e-16 0.455 --- 156,125,31,0.199 160,160,0,0.000 10.231 60 chr1 37267512 37267512 G A exonic GRIK3 synonymous SNV GRIK3:NM_000831:exon16:c.C2700T:p.R900R Score=557;Name=lod=244 103 13 0.112 136 0 0.000 2.84009032234348966e-05 0.692 --- 93,83,10,0.108 107,107,0,0.000 3.444 10.212 chr1 37267622 37267622 C T exonic GRIK3 nonsynonymous SNV GRIK3:NM_000831:exon16:c.G2590A:p.D864N Score=448;Name=lod=88 ID=COSM1296370;OCCURENCE=1(urinary_tract) 0.24 0.998555 C 0.79 T 0.06 B 1.0 D 0.535481 NA 4.49 75 30 0.286 81 0 0.000 4.897044223757887e-09 0.333 --- 90,62,28,0.311 71,71,0,0.000 7.866 15.353 chr1 41236467 41236467 C T exonic NFYC synonymous SNV NFYC:NM_001142589:exon9:c.C861T:p.S287S,NFYC:NM_001142587:exon10:c.C972T:p.S324S,NFYC:NM_014223:exon10:c.C975T:p.S325S,NFYC:NM_001142588:exon11:c.C1032T:p.S344S,NFYC:NM_001142590:exon15:c.C873T:p.S291S Score=660;Name=lod=640 1 126 85 0.403 210 0 0.000 1.17593216217255844e-30 0.435 --- 179,102,77,0.430 174,174,0,0.000 27.197 60 chr1 41945121 41945121 G A exonic EDN2 nonsynonymous SNV EDN2:NM_001956:exon5:c.C496T:p.R166W 0 0.911086 N 0.98 D 0.0010 B 0.993888 N 0.122139 N 2.42 102 29 0.221 117 0 0.000 1.80410715236356505e-09 0.552 --- 96,76,20,0.208 93,93,0,0.000 6.182 60 chr1 46473969 46473969 C A exonic MAST2 nonsynonymous SNV MAST2:NM_015112:exon9:c.C904A:p.P302T Score=643;Name=lod=546 0 0.998077 C 1.0 D 0.999 D 1.0 D 0.98621 D 4.75 21 20 0.488 53 0 0.000 1.99186390674150714e-09 0.600 --- 33,17,16,0.485 45,45,0,0.000 7.168 60 chr1 51860111 51860111 C T exonic EPS15 synonymous SNV EPS15:NM_001159969:exon9:c.G1119A:p.T373T,EPS15:NM_001981:exon21:c.G2061A:p.T687T Score=551;Name=lod=231 50 8 0.138 51 0 0.000 0.00672150800788565785 0.375 --- 46,40,6,0.130 44,44,0,0.000 1.579 8.114 chr1 53925447 53925447 C T exonic DMRTB1 synonymous SNV DMRTB1:NM_033067:exon1:c.C321T:p.A107A 157 72 0.314 234 0 0.000 1.170579847907849e-25 0.583 --- 216,145,69,0.322 206,206,0,0.000 22.989 5.384 chr1 57347190 57347190 G A exonic C8A synonymous SNV C8A:NM_000562:exon5:c.G537A:p.T179T 63 24 0.276 99 0 0.000 1.70492718909522302e-09 0.458 --- 74,49,25,0.338 78,78,0,0.000 8.903 14.03 chr1 86961275 86961275 C A exonic CLCA1 nonsynonymous SNV CLCA1:NM_001285:exon12:c.C2030A:p.A677D Score=325;Name=lod=28 0 0.940301 N 0.98 D 0.966 D 0.999895 D 0.436605 N 3.49 91 66 0.420 151 0 0.000 9.42255600620167715e-24 0.515 --- 126,71,54,0.432 120,120,0,0.000 18.902 60 chr1 92470123 92470123 G T exonic BRDT synonymous SNV BRDT:NM_001242807:exon16:c.G2403T:p.R801R,BRDT:NM_001242808:exon16:c.G2403T:p.R801R,BRDT:NM_001242806:exon17:c.G2553T:p.R851R,BRDT:NM_001242810:exon17:c.G2322T:p.R774R,BRDT:NM_001726:exon17:c.G2541T:p.R847R,BRDT:NM_207189:exon17:c.G2541T:p.R847R,BRDT:NM_001242805:exon18:c.G2541T:p.R847R 102 15 0.128 135 0 0.000 6.01700511138170137e-06 0.400 --- 90,78,12,0.133 111,110,1,0.009 3.182 7.948 chr1 152277128 152277128 C A exonic FLG stopgain FLG:NM_002016:exon3:c.G10234T:p.G3412X Score=0.929016;Name=chr1:152280691 0 0.109136 N 0.836512 NA 0.547434 NA 0.763878 NA 1.0 A -0.553 281 59 0.174 388 0 0.000 1.65120216853417816e-21 0.492 --- 311,257,54,0.174 341,339,0,0.000 18.429 14.523 chr1 152284711 152284711 C T exonic FLG nonsynonymous SNV FLG:NM_002016:exon3:c.G2651A:p.R884H Score=0.929016;Name=chr1:152275831 0.43 0.012387 N 0.45 T 0.059692 NA 0.583779 NA 4.8E-5 N -4.89 287 208 0.420 508 0 0.000 9.38321728260938782e-77 0.495 --- 433,248,184,0.426 406,406,0,0.000 60.000 60 chr1 153963698 153963698 A C exonic RPS27 synonymous SNV RPS27:NM_001030:exon2:c.A114C:p.P38P Score=645;Name=lod=556 47 7 0.130 50 0 0.000 0.0130386715251940781 0.429 --- 39,34,5,0.128 39,39,0,0.000 1.263 3.425 chr1 176708848 176708848 G T exonic PAPPA2 synonymous SNV PAPPA2:NM_020318:exon13:c.G3885T:p.P1295P 128 32 0.200 194 0 0.000 1.40149632019946498e-12 0.469 --- 125,101,23,0.185 144,144,0,0.000 8.222 10.544 chr1 179981149 179981149 G A exonic CEP350 synonymous SNV CEP350:NM_014810:exon9:c.G1332A:p.E444E Score=586;Name=lod=322 54 35 0.393 120 0 0.000 9.1182992759245739e-16 0.429 --- 67,41,26,0.388 87,87,0,0.000 10.866 60 chr1 248112916 248112916 C T exonic OR2L8 nonsynonymous SNV OR2L8:NM_001001963:exon1:c.C757T:p.P253S 0.02 0.980186 C 0.77 T 0.984 D 0.996041 U 0.107689 N 0.942 102 55 0.350 208 0 0.000 1.05277343982025068e-23 0.600 --- 134,90,44,0.328 178,175,0,0.000 18.034 60 chr2 3392378 3392378 C T exonic TRAPPC12 synonymous SNV TRAPPC12:NM_016030:exon2:c.C984T:p.R328R Score=419;Name=lod=67 194 35 0.153 251 0 0.000 1.29644613244600645e-12 0.400 --- 196,165,31,0.158 217,217,0,0.000 10.621 14.331 chr2 11706686 11706686 G A exonic GREB1 nonsynonymous SNV GREB1:NM_014668:exon4:c.G358A:p.V120M,GREB1:NM_033090:exon4:c.G358A:p.V120M,GREB1:NM_148903:exon4:c.G358A:p.V120M Score=526;Name=lod=183 0 0.999578 C 1.0 D 0.98 D 0.999999 D 0.057651 N 5.16 111 62 0.358 157 0 0.000 7.21922279900364321e-21 0.581 --- 137,87,50,0.365 131,131,0,0.000 16.885 60 chr2 71839783 71839783 G T exonic DYSF stopgain DYSF:NM_001130976:exon38:c.G4138T:p.E1380X,DYSF:NM_001130977:exon38:c.G4138T:p.E1380X,DYSF:NM_001130984:exon38:c.G4141T:p.E1381X,DYSF:NM_001130986:exon38:c.G4141T:p.E1381X,DYSF:NM_001130455:exon39:c.G4183T:p.E1395X,DYSF:NM_001130978:exon39:c.G4180T:p.E1394X,DYSF:NM_001130980:exon39:c.G4231T:p.E1411X,DYSF:NM_001130981:exon39:c.G4231T:p.E1411X,DYSF:NM_001130983:exon39:c.G4183T:p.E1395X,DYSF:NM_001130985:exon39:c.G4234T:p.E1412X,DYSF:NM_001130987:exon39:c.G4234T:p.E1412X,DYSF:NM_003494:exon39:c.G4180T:p.E1394X,DYSF:NM_001130979:exon40:c.G4273T:p.E1425X,DYSF:NM_001130982:exon40:c.G4276T:p.E1426X Score=668;Name=lod=694 0.01 0.999582 C 0.903835 NA 0.735491 NA 1.0 D 1.0 A 5.17 132 88 0.400 272 0 0.000 1.03874910774735724e-36 0.659 --- 185,114,71,0.384 226,226,0,0.000 28.583 60 chr2 96048201 96048201 C T exonic KCNIP3 nonsynonymous SNV KCNIP3:NM_001034914:exon6:c.C554T:p.P185L,KCNIP3:NM_013434:exon7:c.C632T:p.P211L Score=284;Name=lod=19 0.04 0.998086 C 0.96 D 0.923 D 1.0 D 0.999451 D 4.42 72 17 0.191 78 0 0.000 1.1091365465812546e-05 0.412 --- 78,63,15,0.192 62,62,0,0.000 3.910 7.752 chr2 103324786 103324786 G A exonic SLC9A2 synonymous SNV SLC9A2:NM_003048:exon12:c.G2277A:p.T759T 143 27 0.159 207 0 0.000 1.34207495114659113e-10 0.630 --- 147,123,24,0.163 182,181,0,0.000 8.854 14.463 chr2 135745484 135745484 C A exonic MAP3K19 stopgain MAP3K19:NM_025052:exon7:c.G958T:p.E320X 0.31 0.778706 N 0.887109 NA 0.689135 NA 0.943086 N 1.0 A 1.24 130 61 0.319 172 0 0.000 4.39698034470644585e-20 0.574 --- 158,107,51,0.323 150,150,0,0.000 16.815 60 chr2 135911315 135911315 G C exonic RAB3GAP1 nonsynonymous SNV RAB3GAP1:NM_001172435:exon19:c.G2158C:p.V720L,RAB3GAP1:NM_012233:exon19:c.G2158C:p.V720L 0.14 0.965088 C 0.71 T 0.0020 B 0.997096 N 0.852316 D 3.19 134 23 0.146 184 0 0.000 7.01431513221918143e-09 0.435 --- 125,109,16,0.128 142,142,0,0.000 5.510 13.734 chr2 148674866 148674866 G A exonic ACVR2A stopgain ACVR2A:NM_001616:exon6:c.G687A:p.W229X Score=694;Name=lod=878 ID=COSM278610;OCCURENCE=1(large_intestine) 0 0.999589 C 0.903835 NA 0.735492 NA 1.0 D 1.0 A 5.17 75 35 0.318 137 0 0.000 1.44714314952542425e-14 0.743 --- 91,63,28,0.308 116,115,0,0.000 11.120 60 chr2 152507348 152507348 G A exonic NEB nonsynonymous SNV NEB:NM_001164507:exon53:c.C6967T:p.R2323W,NEB:NM_001164508:exon53:c.C6967T:p.R2323W,NEB:NM_001271208:exon53:c.C6967T:p.R2323W,NEB:NM_004543:exon53:c.C6967T:p.R2323W Score=612;Name=lod=408 0.01 129 20 0.134 161 0 0.000 2.13187870555255612e-07 0.350 --- 128,110,17,0.134 138,138,0,0.000 5.689 8.676 chr2 171376005 171376005 G A exonic MYO3B nonsynonymous SNV MYO3B:NM_001083615:exon29:c.G3449A:p.R1150H,MYO3B:NM_138995:exon30:c.G3530A:p.R1177H 0.001654 0.0005 rs189292264 0.31 0.94364 N 0.70112 NA 0.0 B 0.708328 N 6.0E-6 N 2.47 61 36 0.371 139 0 0.000 1.18875424320709234e-16 0.528 --- 81,50,31,0.383 111,110,0,0.000 13.313 12.77 chr2 175268971 175268971 C T exonic SCRN3 nonsynonymous SNV SCRN3:NM_001193528:exon5:c.C661T:p.L221F,SCRN3:NM_024583:exon5:c.C682T:p.L228F 0.05 0.920206 N 0.39 T 0.0010 B 0.597042 N 0.008159 N 1.96 81 37 0.314 146 0 0.000 2.87087926019886281e-15 0.514 --- 99,62,35,0.361 115,115,0,0.000 13.646 60 chr2 176965369 176965369 C T exonic HOXD12 nonsynonymous SNV HOXD12:NM_021193:exon2:c.C694T:p.R232C Score=675;Name=lod=739 0 111 22 0.165 158 0 0.000 1.1859635593425171e-08 0.591 --- 111,93,18,0.162 137,137,0,0.000 6.643 60 chr2 179720181 179720181 C T exonic CCDC141 nonsynonymous SNV CCDC141:NM_173648:exon19:c.G2953A:p.E985K Score=569;Name=lod=273 0.09 0.998451 C 0.88 T 0.952 D 0.999027 N 0.045898 N 4.94 105 21 0.167 141 0 0.000 5.43373577988534748e-08 0.571 --- 104,87,16,0.155 108,108,0,0.000 5.263 9.19 chr2 191843589 191843589 G A exonic STAT1 synonymous SNV STAT1:NM_007315:exon21:c.C1866T:p.N622N,STAT1:NM_139266:exon21:c.C1866T:p.N622N 0.000077 rs112108750 110 60 0.353 194 0 0.000 1.70256913705307027e-23 0.600 --- 144,93,51,0.354 158,158,0,0.000 18.854 14.955 chr2 210559193 210559193 G A exonic MAP2 nonsynonymous SNV MAP2:NM_002374:exon7:c.G2299A:p.E767K Score=414;Name=lod=64 0.2 0.207955 N 0.99 D 0.0 B 0.903513 N 0.422319 N 2.97 106 46 0.303 180 0 0.000 3.20953693599288991e-18 0.457 --- 133,92,41,0.308 155,155,0,0.000 15.459 60 chr2 227907884 227907884 G A exonic COL4A4 synonymous SNV COL4A4:NM_000092:exon36:c.C3306T:p.S1102S 0.0005 rs200065408 73 41 0.360 115 0 0.000 4.54718698871515521e-15 0.366 --- 92,58,33,0.363 92,92,0,0.000 11.566 60 chr2 227945263 227945263 G T exonic COL4A4 nonsynonymous SNV COL4A4:NM_000092:exon24:c.C1699A:p.H567N 0.5 0.095933 N 0.668748 NA 0.0010 B 0.595187 NA 3.73E-4 N -6.52 86 16 0.157 102 0 0.000 1.61348897916598623e-05 0.438 --- 81,67,13,0.162 88,88,0,0.000 4.429 7.122 chr2 233655431 233655431 C T exonic GIGYF2 nonsynonymous SNV GIGYF2:NM_001103148:exon9:c.C718T:p.R240W,GIGYF2:NM_001103146:exon10:c.C736T:p.R246W,GIGYF2:NM_001103147:exon12:c.C802T:p.R268W,GIGYF2:NM_015575:exon12:c.C736T:p.R246W Score=611;Name=lod=406 0 0.997916 C 1.0 D 1.0 D 1.0 D 0.99708 D 4.68 52 41 0.441 72 0 0.000 4.47448933608704267e-13 0.707 --- 83,48,35,0.422 63,63,0,0.000 10.213 60 chr2 234652254 234652254 G T exonic DNAJB3 nonsynonymous SNV DNAJB3:NM_001001394:exon1:c.C309A:p.F103L Score=521;Name=lod=175 Score=0.922606;Name=chr2:234655487 256 73 0.222 342 0 0.000 2.59393334236615586e-25 0.603 --- 287,229,58,0.202 284,284,0,0.000 18.535 60 chr3 10387732 10387732 C T exonic ATP2B2 nonsynonymous SNV ATP2B2:NM_001683:exon14:c.G2359A:p.D787N,ATP2B2:NM_001001331:exon17:c.G2494A:p.D832N Score=507;Name=lod=154 0 0.996764 C 1.0 D 0.934 D 1.0 D 0.0 N 4.27 108 19 0.150 134 0 0.000 5.39748304011630341e-07 0.526 --- 97,80,17,0.175 106,106,0,0.000 5.800 12.13 chr3 12961983 12961983 T C exonic IQSEC1 nonsynonymous SNV IQSEC1:NM_001134382:exon6:c.A1967G:p.N656S,IQSEC1:NM_014869:exon6:c.A2009G:p.N670S Score=536;Name=lod=202 0.000077 0.18 0.994555 C 0.76 T 0.56 P 1.0 D 0.991252 D 4.25 83 45 0.352 156 0 0.000 1.55081724084362392e-18 0.578 --- 109,72,37,0.339 129,128,0,0.000 14.205 60 chr3 39230212 39230212 G A exonic XIRP1 nonsynonymous SNV XIRP1:NM_001198621:exon2:c.C725T:p.A242V,XIRP1:NM_194293:exon2:c.C725T:p.A242V Score=419;Name=lod=67 0.22 0.999267 C 0.83 T 0.937 D 0.999993 D 0.999579 D 4.41 331 51 0.134 475 0 0.000 1.75550013931525108e-19 0.490 --- 337,291,46,0.136 408,407,0,0.000 16.603 15.353 chr3 64635348 64635348 T C exonic ADAMTS9 nonsynonymous SNV ADAMTS9:NM_182920:exon10:c.A1570G:p.I524V Score=624;Name=lod=460 1 0.975903 C 0.26 T 0.92 D 0.999988 D 0.892967 D 4.47 149 26 0.149 235 0 0.000 7.75144897186177681e-11 0.462 --- 149,126,23,0.154 190,190,0,0.000 8.657 8.467 chr3 78666951 78666951 G A exonic ROBO1 synonymous SNV ROBO1:NM_001145845:exon25:c.C3816T:p.N1272N,ROBO1:NM_133631:exon25:c.C3981T:p.N1327N,ROBO1:NM_002941:exon27:c.C4116T:p.N1372N Score=549;Name=lod=228 ID=COSM1425433,COSM1425430,COSM1425431,COSM1425432;OCCURENCE=1(large_intestine) 116 90 0.437 302 0 0.000 2.1611281484329808e-42 0.511 --- 175,99,76,0.434 247,247,0,0.000 34.317 60 chr3 118621381 118621381 C T exonic IGSF11 nonsynonymous SNV IGSF11:NM_001015887:exon7:c.G1282A:p.G428R,IGSF11:NM_152538:exon9:c.G1279A:p.G427R Score=417;Name=lod=66 0 0.998803 C 1.0 D 0.995 D 1.0 D 0.999762 D 4.67 56 29 0.341 83 0 0.000 2.15884980122255887e-10 0.759 --- 78,50,28,0.359 77,77,0,0.000 9.415 60 chr3 127783785 127783785 C T exonic SEC61A1 stopgain SEC61A1:NM_013336:exon8:c.C682T:p.R228X Score=454;Name=lod=93 ID=COSM271517;OCCURENCE=1(large_intestine) 1 0.917402 N 0.89727 NA 0.721975 NA 1.0 D 1.0 A 2.86 97 27 0.218 163 0 0.000 2.39993457397200603e-11 0.630 --- 107,83,23,0.217 132,131,0,0.000 8.677 12.956 chr4 2461863 2461863 C T exonic LOC402160 nonsynonymous SNV LOC402160:NM_001193282:exon14:c.C1555T:p.R519W Score=385;Name=lod=49 84 42 0.333 178 0 0.000 7.31530633939389226e-19 0.476 --- 100,65,35,0.350 144,144,0,0.000 15.392 60 chr4 6862895 6862895 C T exonic KIAA0232 synonymous SNV KIAA0232:NM_001100590:exon6:c.C786T:p.G262G,KIAA0232:NM_014743:exon7:c.C786T:p.G262G Score=243;Name=lod=13 135 63 0.318 244 0 0.000 1.6671279923026844e-25 0.492 --- 174,117,57,0.328 201,201,0,0.000 21.562 60 chr4 10447027 10447027 T C exonic ZNF518B nonsynonymous SNV ZNF518B:NM_053042:exon3:c.A926G:p.K309R Score=340;Name=lod=32 0.46 0.926723 N 1.0 D 0.0 B 0.93353 N 0.017835 N 2.2 103 53 0.340 200 0 0.000 2.63729532902701654e-22 0.396 --- 136,89,47,0.346 169,169,0,0.000 18.792 60 chr4 71500124 71500124 C A exonic ENAM nonsynonymous SNV ENAM:NM_031889:exon6:c.C310A:p.P104T 0.01 0.993286 C 1.0 D 0.979 D 0.999695 D 0.043001 N 2.3 94 46 0.329 152 0 0.000 2.04796897397215472e-17 0.609 --- 112,76,36,0.321 129,129,0,0.000 13.537 60 chr4 77661342 77661342 G C exonic SHROOM3 synonymous SNV SHROOM3:NM_020859:exon5:c.G2016C:p.L672L 143 96 0.402 260 0 0.000 7.4964405207958018e-37 0.521 --- 212,127,85,0.401 223,222,1,0.004 29.513 60 chr4 110866263 110866263 C T exonic EGF nonsynonymous SNV EGF:NM_001178130:exon5:c.C772T:p.R258C,EGF:NM_001178131:exon5:c.C772T:p.R258C,EGF:NM_001963:exon5:c.C772T:p.R258C 0.02 0.920755 N 0.86 T 0.0 B 0.903818 N 0.035541 N 2.65 76 51 0.402 154 0 0.000 2.63032305788289863e-21 0.667 --- 110,70,40,0.364 128,127,0,0.000 15.351 60 chr4 141590070 141590070 C T splicing TBC1D9 NM_015130:exon10:c.1588+1G>A Score=403;Name=lod=58 69 37 0.349 168 0 0.000 5.43379271681061638e-18 0.514 --- 93,61,32,0.344 133,133,0,0.000 13.973 13.097 chr4 154680992 154680992 C T exonic RNF175 nonsynonymous SNV RNF175:NM_173662:exon1:c.G23A:p.R8Q 0.42 46 12 0.207 76 0 0.000 2.11663571757356523e-05 0.500 --- 51,39,12,0.235 64,64,0,0.000 4.589 5.555 chr4 165118781 165118781 C T exonic ANP32C nonsynonymous SNV ANP32C:NM_012403:exon1:c.G83A:p.R28Q Score=724;Name=lod=1166 Score=0.907795;Name=chr15:35529416 0.000077 rs145140148 0.03 0.083362 N 0.99 D 0.861 D 0.999999 D 0.999128 D -0.782 111 71 0.390 229 0 0.000 6.05436944009832233e-30 0.479 --- 158,95,63,0.399 197,197,0,0.000 25.867 60 chr4 184931632 184931632 G A exonic STOX2 synonymous SNV STOX2:NM_020225:exon3:c.G1641A:p.S547S 154 38 0.198 228 0 0.000 1.33784844328450171e-14 0.474 --- 162,130,32,0.198 199,199,0,0.000 11.946 60 chr5 7396429 7396429 G T exonic ADCY2 nonsynonymous SNV ADCY2:NM_020546:exon1:c.G20T:p.R7L Score=475;Name=lod=114 0.24 0.989384 C 0.896889 NA 0.719124 NA 0.999908 U 0.950496 D 2.77 32 21 0.396 98 0 0.000 1.21779815753612365e-11 0.905 --- 46,27,19,0.413 84,84,0,0.000 9.861 8.808 chr5 41012778 41012778 G A exonic MROH2B synonymous SNV MROH2B:NM_173489:exon30:c.C3042T:p.D1014D Score=415;Name=lod=65 156 21 0.119 154 0 0.000 1.1347235425681794e-06 0.476 --- 125,111,14,0.112 115,115,0,0.000 4.016 6.623 chr5 112162891 112162891 C T exonic APC stopgain APC:NM_001127511:exon10:c.C1441T:p.R481X,APC:NM_000038:exon12:c.C1495T:p.R499X,APC:NM_001127510:exon13:c.C1495T:p.R499X Score=616;Name=lod=425 ID=COSM29364;OCCURENCE=7(large_intestine) rs137854580 1 0.983405 C 0.902543 NA 0.732831 NA 1.0 D 1.0 A 4.44 78 44 0.361 134 0 0.000 4.81209612276914975e-17 0.455 --- 103,66,37,0.359 107,107,0,0.000 13.197 60 chr5 122506759 122506759 C T exonic PRDM6 nonsynonymous SNV PRDM6:NM_001136239:exon6:c.C1453T:p.R485W Score=558;Name=lod=246 0.01 95 55 0.367 206 0 0.000 2.11292080069924536e-24 0.382 --- 131,82,48,0.369 174,173,0,0.000 20.267 10.962 chr5 127419934 127419934 G T exonic SLC12A2 synonymous SNV SLC12A2:NM_001046:exon1:c.G288T:p.A96A,SLC12A2:NM_001256461:exon1:c.G288T:p.A96A Score=541;Name=lod=210 207 41 0.165 281 1 0.004 1.08999566085818669e-13 0.488 0.000 227,179,43,0.194 253,246,2,0.008 12.449 4.591 chr5 132070140 132070140 C T exonic KIF3A nonsynonymous SNV KIF3A:NM_007054:exon2:c.G37A:p.D13N Score=587;Name=lod=325 rs199848794 0 0.999052 C 0.99 D 0.926 D 1.0 D 0.996 D 5.42 108 23 0.176 154 0 0.000 5.50214030177092252e-09 0.565 --- 113,96,17,0.150 120,120,0,0.000 5.633 8.982 chr5 135276840 135276840 G A exonic FBXL21 unknown UNKNOWN Score=507;Name=lod=153 70 39 0.358 125 0 0.000 1.37810912873631124e-15 0.410 --- 99,63,36,0.364 108,108,0,0.000 13.298 60 chr5 140307500 140307500 C A exonic PCDHAC1 nonsynonymous SNV PCDHAC1:NM_018898:exon1:c.C1023A:p.D341E,PCDHAC1:NM_031882:exon1:c.C1023A:p.D341E 1 0.148583 N 0.5 T 0.110986 NA 0.621771 NA 2.86E-4 N -3.11 127 34 0.211 179 0 0.000 1.18141415069484605e-12 0.412 --- 146,116,30,0.205 150,150,0,0.000 9.939 15.955 chr5 140482089 140482089 C T exonic PCDHB3 nonsynonymous SNV PCDHB3:NM_018937:exon1:c.C1856T:p.A619V Score=611;Name=lod=407 Score=0.966211;Name=chr5:140475604 0.04 0.995069 C 0.98 D 0.249 P 0.889732 NA 0.333191 N 3.88 971 226 0.189 1223 0 0.000 5.66153375570711097e-75 0.465 --- 1041,844,197,0.189 1061,1060,0,0.000 60.000 3.53 chr5 140530390 140530390 C A exonic PCDHB6 synonymous SNV PCDHB6:NM_018939:exon1:c.C552A:p.R184R 170 48 0.220 217 0 0.000 3.86784422850238572e-16 0.500 --- 182,143,39,0.214 178,178,0,0.000 12.394 60 chr5 140590624 140590624 G T exonic PCDHB12 nonsynonymous SNV PCDHB12:NM_018932:exon1:c.G2145T:p.R715S Score=0.955153;Name=chr5:140516237 0.1 0.898382 N 1.0 D 0.11 B 0.821637 NA 0.098427 N -1.2 568 104 0.155 776 0 0.000 2.08139393789518322e-37 0.317 --- 582,488,94,0.162 664,663,1,0.002 31.223 4.993 chr5 140594934 140594934 C A exonic PCDHB13 nonsynonymous SNV PCDHB13:NM_018933:exon1:c.C1239A:p.S413R Score=0.941553;Name=chr5:140481460 0.13 6.82E-4 N 0.82 T 0.0020 B 0.636277 NA 0.508154 D -6.21 161 111 0.408 317 0 0.000 1.38309546317484282e-44 0.730 --- 254,148,106,0.417 300,300,0,0.000 42.432 60 chr5 167653175 167653175 A C exonic TENM2 nonsynonymous SNV TENM2:NM_001122679:exon24:c.A5164C:p.I1722L Score=618;Name=lod=435 0.18 88 12 0.120 184 0 0.000 2.313121214159787e-06 1.000 --- 118,92,25,0.214 145,144,1,0.007 8.228 7.085 chr5 169693850 169693850 C T exonic LCP2 nonsynonymous SNV LCP2:NM_005565:exon10:c.G734A:p.R245H 0 69 32 0.317 120 0 0.000 5.56022607421965353e-13 0.625 --- 89,61,28,0.315 107,107,0,0.000 10.791 60 chr6 25726459 25726459 G A exonic HIST1H2AA synonymous SNV HIST1H2AA:NM_170745:exon1:c.C297T:p.G99G Score=479;Name=lod=118 0.000077 148 49 0.249 199 0 0.000 4.48247920374175258e-17 0.531 --- 157,115,42,0.268 163,163,0,0.000 14.391 60 chr6 26156642 26156642 G A exonic HIST1H1E synonymous SNV HIST1H1E:NM_005321:exon1:c.G24A:p.A8A Score=346;Name=lod=34 65 57 0.467 157 0 0.000 2.23969854995937889e-25 0.789 --- 110,58,52,0.473 139,139,0,0.000 22.282 60 chr6 46663643 46663643 T G exonic TDRD6 synonymous SNV TDRD6:NM_001010870:exon2:c.T6132G:p.S2044S,TDRD6:NM_001168359:exon2:c.T6132G:p.S2044S Score=507;Name=lod=154 116 13 0.101 130 0 0.000 8.43728664841182812e-05 0.000 --- 127,102,25,0.197 107,107,0,0.000 7.035 7.853 chr6 49663578 49663578 C A exonic CRISP2 nonsynonymous SNV CRISP2:NM_001142407:exon8:c.G575T:p.C192F,CRISP2:NM_001142435:exon8:c.G575T:p.C192F,CRISP2:NM_001261822:exon8:c.G575T:p.C192F,CRISP2:NM_001142408:exon9:c.G575T:p.C192F,CRISP2:NM_001142417:exon9:c.G575T:p.C192F,CRISP2:NM_003296:exon9:c.G575T:p.C192F Score=343;Name=lod=33 0 0.998623 C 1.0 D 1.0 D 1.0 D 0.999931 D 3.98 107 14 0.116 124 0 0.000 3.43190963581456534e-05 0.500 --- 91,81,10,0.110 89,89,0,0.000 2.821 7.658 chr6 65098712 65098712 G A exonic EYS synonymous SNV EYS:NM_001142800:exon29:c.C5949T:p.N1983N 65 33 0.337 147 0 0.000 1.56991391475513565e-15 0.394 --- 81,53,28,0.346 109,109,0,0.000 11.764 60 chr6 105781243 105781243 G A exonic PREP nonsynonymous SNV PREP:NM_002726:exon8:c.C961T:p.P321S Score=333;Name=lod=30 0.04 0.991664 C 0.97 D 0.086 B 1.0 D 0.99988 D 4.18 123 24 0.163 199 0 0.000 3.71223755925173567e-10 0.667 --- 129,108,21,0.163 157,157,0,0.000 7.682 13.113 chr6 142519702 142519702 C T exonic VTA1 nonsynonymous SNV VTA1:NM_016485:exon6:c.C647T:p.P216L Score=389;Name=lod=51 0 0.998914 C 1.0 D 0.999 D 0.999999 D 0.999996 D 5.28 140 60 0.300 228 0 0.000 5.84423285380201449e-23 0.483 --- 161,116,45,0.280 175,175,0,0.000 15.995 60 chr6 146350760 146350760 G A exonic GRM1 nonsynonymous SNV GRM1:NM_000838:exon2:c.G107A:p.R36H,GRM1:NM_001114329:exon2:c.G107A:p.R36H Score=389;Name=lod=51 0 0.999611 C 0.99 D 0.998 D 1.0 D 0.997497 D 5.22 67 37 0.356 124 0 0.000 3.54446457459261415e-15 0.703 --- 86,56,30,0.349 99,99,0,0.000 11.402 60 chr6 152647652 152647652 G A exonic SYNE1 synonymous SNV SYNE1:NM_033071:exon78:c.C14859T:p.D4953D,SYNE1:NM_182961:exon79:c.C15072T:p.D5024D Score=504;Name=lod=149 103 120 0.538 200 0 0.000 2.45790301198143545e-43 0.375 --- 185,85,100,0.541 166,164,0,0.000 35.244 60 chr7 6590801 6590801 G A exonic GRID2IP synonymous SNV GRID2IP:NM_001145118:exon1:c.C267T:p.P89P 250 36 0.126 233 0 0.000 2.49076576808586111e-10 0.389 --- 249,218,31,0.124 187,187,0,0.000 7.878 3.824 chr7 45701706 45701706 A C exonic ADCY1 nonsynonymous SNV ADCY1:NM_021116:exon8:c.A1498C:p.K500Q Score=500;Name=lod=144 0.04 0.961366 C 0.76 T 0.0050 B 0.999999 D 0.651779 D 3.55 191 32 0.143 163 0 0.000 1.22748633574341511e-08 0.688 --- 179,151,28,0.156 138,138,0,0.000 7.257 15.477 chr7 63538284 63538284 G T exonic ZNF727 nonsynonymous SNV ZNF727:NM_001159522:exon4:c.G857T:p.C286F Score=397;Name=lod=55 Score=0.91243;Name=chr7:63782418 150 64 0.299 189 0 0.000 1.93316388800228851e-20 0.531 --- 188,133,54,0.289 165,165,0,0.000 16.654 60 chr7 70255192 70255192 C T exonic AUTS2 nonsynonymous SNV AUTS2:NM_001127231:exon18:c.C2918T:p.P973L,AUTS2:NM_015570:exon19:c.C2990T:p.P997L 0.01 0.996823 C 0.97 D 0.983 D 0.899906 N 0.878415 D 2.65 214 206 0.490 391 0 0.000 7.82093783479506e-74 0.495 --- 367,184,179,0.493 343,343,0,0.000 60.000 60 chr7 70255524 70255524 C T exonic AUTS2 nonsynonymous SNV AUTS2:NM_001127231:exon18:c.C3250T:p.R1084W,AUTS2:NM_015570:exon19:c.C3322T:p.R1108W Score=409;Name=lod=61 0.02 0.963862 C 0.98 D 0.999 D 0.999522 D 0.999821 D 3.22 359 49 0.120 334 0 0.000 5.01149396351704809e-14 0.469 --- 352,307,45,0.128 291,291,0,0.000 12.286 8.908 chr7 72738609 72738609 C G exonic TRIM50 synonymous SNV TRIM50:NM_178125:exon2:c.G177C:p.A59A Score=420;Name=lod=68 Score=0.963837;Name=chr7:72402419 380 186 0.329 396 0 0.000 3.94041411442666695e-50 0.495 --- 483,324,159,0.329 349,349,0,0.000 43.246 60 chr7 95820468 95820468 A G exonic SLC25A13 nonsynonymous SNV SLC25A13:NM_001160210:exon7:c.T707C:p.I236T,SLC25A13:NM_014251:exon7:c.T707C:p.I236T Score=629;Name=lod=479 0 0.999058 C 1.0 D 0.78 P 0.999999 D 0.991043 D 4.48 133 21 0.136 182 0 0.000 3.47968758400108515e-08 0.429 --- 112,96,16,0.143 148,147,0,0.000 6.108 7.872 chr7 100681033 100681033 G A exonic MUC17 synonymous SNV MUC17:NM_001040105:exon3:c.G6336A:p.T2112T 0.000231 352 58 0.141 362 1 0.003 6.49359862577569784e-16 0.569 0.000 361,310,50,0.139 304,303,1,0.003 12.568 60 chr7 120381630 120381630 G A exonic KCND2 nonsynonymous SNV KCND2:NM_012281:exon3:c.G1321A:p.A441T Score=530;Name=lod=190 0.6 0.999639 C 0.51 T 0.0 B 0.999993 D 0.753024 D 5.27 100 13 0.115 102 0 0.000 0.000205220905928467813 0.385 --- 91,79,12,0.132 80,80,0,0.000 3.369 8.441 chr8 54791859 54791859 G A exonic RGS20 synonymous SNV RGS20:NM_170587:exon2:c.G207A:p.P69P Score=251;Name=lod=14 127 31 0.196 122 0 0.000 5.5326355745793185e-09 0.677 --- 135,107,28,0.207 107,107,0,0.000 7.472 15.955 chr8 57026323 57026323 C T exonic MOS synonymous SNV MOS:NM_005372:exon1:c.G219A:p.S73S 160 34 0.175 210 0 0.000 2.84200229505819345e-12 0.500 --- 174,144,30,0.172 170,170,0,0.000 9.302 60 chr8 77767078 77767078 G A exonic ZFHX4 nonsynonymous SNV ZFHX4:NM_024721:exon10:c.G7921A:p.E2641K Score=349;Name=lod=35 ID=COSM1101781;OCCURENCE=1(breast) 0 295 54 0.155 328 0 0.000 3.43350852415134503e-17 0.593 --- 308,260,47,0.153 273,272,0,0.000 13.676 60 chr8 97270848 97270848 G A exonic MTERFD1 nonsynonymous SNV MTERFD1:NM_015942:exon2:c.C71T:p.A24V 0.69 0.12161 N 0.45 T 0.0010 B 0.057555 N 1.0E-6 N -1.78 78 84 0.519 179 0 0.000 1.37631070544049287e-34 0.393 --- 133,68,65,0.489 146,146,0,0.000 25.666 60 chr8 99608353 99608353 C A exonic STK3 nonsynonymous SNV STK3:NM_001256313:exon5:c.G396T:p.K132N,STK3:NM_006281:exon7:c.G729T:p.K243N,STK3:NM_001256312:exon9:c.G813T:p.K271N Score=629;Name=lod=481 0.19 104 86 0.453 159 0 0.000 1.94189260520184396e-28 0.442 --- 153,80,73,0.477 130,130,0,0.000 24.077 60 chr8 99961783 99961783 G A exonic OSR2 synonymous SNV OSR2:NM_001142462:exon2:c.G603A:p.T201T,OSR2:NM_053001:exon2:c.G603A:p.T201T Score=624;Name=lod=460 202 41 0.169 235 0 0.000 1.79111892572119239e-13 0.488 --- 198,164,34,0.172 198,198,0,0.000 10.607 12.758 chr8 105479077 105479077 G A exonic DPYS synonymous SNV DPYS:NM_001385:exon1:c.C72T:p.D24D Score=499;Name=lod=142 189 71 0.273 268 0 0.000 5.13614276157020894e-25 0.437 --- 226,164,59,0.265 222,222,0,0.000 19.385 8.15 chr8 143695152 143695152 C T exonic ARC nonsynonymous SNV ARC:NM_015193:exon1:c.G481A:p.E161K 0.03 0.996485 C 0.97 D 0.243 P 0.990946 U 0.049532 N 4.2 335 50 0.130 360 0 0.000 9.16661163179174694e-16 0.480 --- 343,300,42,0.123 317,317,0,0.000 12.511 12.496 chr9 22447688 22447688 C T exonic DMRTA1 synonymous SNV DMRTA1:NM_022160:exon1:c.C624T:p.P208P 188 36 0.161 275 0 0.000 5.59071081560756498e-14 0.278 --- 200,168,31,0.156 239,237,0,0.000 11.156 7.515 chr9 33443436 33443436 C T exonic AQP3 nonsynonymous SNV AQP3:NM_004925:exon3:c.G256A:p.V86M Score=510;Name=lod=157 0 0.975791 C 1.0 D 0.562 P 1.0 D 0.997625 D 3.8 140 71 0.336 207 0 0.000 8.56664913953838969e-25 0.437 --- 171,114,57,0.333 165,165,0,0.000 19.089 60 chr9 72003183 72003183 G A exonic FAM189A2 synonymous SNV FAM189A2:NM_001127608:exon10:c.G966A:p.P322P,FAM189A2:NM_004816:exon10:c.G966A:p.P322P ID=COSM1109719,COSM1109720;OCCURENCE=1(endometrium) 100 60 0.375 191 0 0.000 2.04407869340937052e-24 0.533 --- 135,84,50,0.373 154,154,0,0.000 19.227 60 chr9 77732451 77732451 G A exonic OSTF1 synonymous SNV OSTF1:NM_012383:exon2:c.G66A:p.T22T Score=543;Name=lod=215 53 26 0.329 48 0 0.000 1.34448026436261464e-06 0.615 --- 63,43,20,0.317 37,37,0,0.000 4.390 12.152 chr9 102591188 102591188 C T exonic NR4A3 synonymous SNV NR4A3:NM_006981:exon3:c.C864T:p.G288G,NR4A3:NM_173199:exon3:c.C864T:p.G288G,NR4A3:NM_173200:exon4:c.C897T:p.G299G Score=463;Name=lod=102 176 32 0.154 278 0 0.000 3.68581226786050488e-13 0.469 --- 175,147,28,0.160 234,234,0,0.000 10.904 7.487 chr9 112899196 112899196 C T exonic AKAP2,PALM2-AKAP2 nonsynonymous SNV AKAP2:NM_001004065:exon2:c.C946T:p.R316C,AKAP2:NM_001136562:exon2:c.C679T:p.R227C,AKAP2:NM_001198656:exon2:c.C946T:p.R316C,PALM2-AKAP2:NM_007203:exon8:c.C1372T:p.R458C,PALM2-AKAP2:NM_147150:exon8:c.C1372T:p.R458C Score=566;Name=lod=267 0 0.999262 C 1.0 D 0.999 D 0.999923 D 0.67798 D 5.64 321 219 0.406 600 0 0.000 1.5229560404440447e-84 0.516 --- 469,281,187,0.400 513,513,0,0.000 60.000 60 chr9 131600047 131600047 G A exonic CCBL1 synonymous SNV CCBL1:NM_001122672:exon5:c.C334T:p.L112L,CCBL1:NM_001122671:exon6:c.C484T:p.L162L,CCBL1:NM_004059:exon6:c.C484T:p.L162L Score=433;Name=lod=77 91 54 0.372 137 1 0.007 1.85652643192374858e-17 0.519 1.000 116,72,44,0.379 109,108,1,0.009 13.342 60 chr9 135863718 135863718 A C exonic GFI1B nonsynonymous SNV GFI1B:NM_001135031:exon4:c.A373C:p.T125P,GFI1B:NM_004188:exon4:c.A373C:p.T125P Score=550;Name=lod=230 ID=COSM333197;OCCURENCE=1(lung) 0.09 0.99722 C 1.0 D 0.266 P 0.999255 N 0.353105 N 4.53 94 20 0.175 128 0 0.000 1.10479018012230851e-07 0.500 --- 102,85,17,0.167 102,101,1,0.010 4.120 8.659 chr10 49440191 49440191 C A exonic FRMPD2 stopgain FRMPD2:NM_001018071:exon10:c.G1135T:p.E379X Score=454;Name=lod=93 0 0.998401 C 0.903508 NA 0.737842 NA 1.0 NA 1.0 A 4.92 78 30 0.278 141 0 0.000 9.39049081160604295e-13 0.567 --- 93,64,28,0.304 109,109,0,0.000 10.641 8.228 chr10 49457121 49457121 G T exonic FRMPD2 nonsynonymous SNV FRMPD2:NM_001018071:exon3:c.C252A:p.F84L Score=448;Name=lod=88 0 0.999563 C 0.98 D 0.999 D 0.932122 NA 0.353206 N 4.8 62 28 0.311 144 0 0.000 1.16618748136590317e-13 0.607 --- 80,56,24,0.300 117,117,0,0.000 10.430 11.159 chr10 79743997 79743997 A C exonic POLR3A nonsynonymous SNV POLR3A:NM_007055:exon25:c.T3302G:p.V1101G Score=558;Name=lod=248 0 0.99875 C 1.0 D 0.997 D 1.0 D 0.999908 D 5.28 30 7 0.189 48 0 0.000 0.00208585706415246248 0.714 --- 33,24,8,0.250 38,38,0,0.000 2.953 8.262 chr10 88232383 88232383 G A exonic WAPAL stopgain WAPAL:NM_015045:exon6:c.C1879T:p.R627X Score=729;Name=lod=1225 0.49 0.898616 N 0.895769 NA 0.718886 NA 0.999999 D 1.0 A 2.59 127 21 0.142 214 0 0.000 2.8354346615444969e-09 0.429 --- 131,112,19,0.145 173,173,0,0.000 7.293 10.439 chr10 92509275 92509275 C T exonic HTR7 nonsynonymous SNV HTR7:NM_000872:exon2:c.G616A:p.V206I,HTR7:NM_019859:exon2:c.G616A:p.V206I,HTR7:NM_019860:exon2:c.G616A:p.V206I Score=433;Name=lod=77 Score=0.904566;Name=chr12:13154967 0.000077 0.01 0.999236 C 0.99 D 0.583 P 1.0 D 0.899319 D 5.09 63 32 0.337 164 0 0.000 2.28506914025856562e-16 0.375 --- 82,53,29,0.354 136,136,0,0.000 13.923 60 chr10 95557185 95557185 C T exonic LGI1 synonymous SNV LGI1:NM_005097:exon8:c.C1299T:p.Y433Y Score=284;Name=lod=19 rs113679880 79 45 0.363 196 0 0.000 8.03687845759463348e-22 0.467 --- 107,69,38,0.355 161,160,0,0.000 17.151 60 chr10 115526386 115526386 C T exonic PLEKHS1 nonsynonymous SNV PLEKHS1:NM_182601:exon3:c.C115T:p.R39W,PLEKHS1:NM_024889:exon4:c.C133T:p.R45W Score=387;Name=lod=50 0 0.971623 C 0.95 T 1.0 D 0.999996 D 0.778566 NA 4.11 49 17 0.258 117 0 0.000 6.6529990276021032e-09 0.647 --- 57,41,16,0.281 96,95,0,0.000 7.471 11.878 chr10 126370804 126370804 A G exonic FAM53B nonsynonymous SNV FAM53B:NM_014661:exon4:c.T278C:p.I93T Score=532;Name=lod=194 0 0.998814 C 0.99 D 0.992 D 0.999998 D 0.930482 D 4.82 87 44 0.336 140 0 0.000 1.43829171404518782e-16 0.455 --- 114,77,37,0.325 122,122,0,0.000 13.260 60 chr11 562734 562734 T G exonic RASSF7 synonymous SNV RASSF7:NM_001143993:exon3:c.T780G:p.A260A,RASSF7:NM_001143994:exon3:c.T780G:p.A260A,RASSF7:NM_003475:exon3:c.T780G:p.A260A Score=366;Name=lod=41 102 51 0.333 211 0 0.000 1.99622934246458514e-22 0.275 --- 134,90,44,0.328 175,175,0,0.000 18.034 6.287 chr11 6890987 6890987 T G exonic OR10A2 nonsynonymous SNV OR10A2:NM_001004460:exon1:c.T2G:p.M1R Score=391;Name=lod=52 Score=0.944343;Name=chr11:6866790 0 0.957049 C 1.0 D 0.272 P 0.958753 N 0.980587 D 2.67 49 9 0.155 98 0 0.000 8.93384663846146723e-05 1.000 --- 77,52,25,0.325 87,87,0,0.000 9.279 9.09 chr11 17124308 17124308 C T exonic PIK3C2A nonsynonymous SNV PIK3C2A:NM_002645:exon23:c.G3752A:p.R1251Q Score=733;Name=lod=1268 0.000077 0 0.999038 C 1.0 D 1.0 D 1.0 D 0.999994 D 5.4 59 31 0.344 100 0 0.000 3.26105869093950863e-12 0.419 --- 69,45,24,0.348 75,75,0,0.000 8.763 60 chr11 17590822 17590822 G A exonic OTOG synonymous SNV OTOG:NM_001277269:exon15:c.G1800A:p.P600P Score=644;Name=lod=550 113 33 0.226 199 0 0.000 4.57132422053852943e-14 0.364 --- 116,91,25,0.216 158,158,0,0.000 10.054 10.59 chr11 33589644 33589644 G A exonic KIAA1549L synonymous SNV KIAA1549L:NM_012194:exon8:c.G3210A:p.S1070S ID=COSM159462;OCCURENCE=1(breast) 98 26 0.210 139 1 0.007 2.00386041744455483e-08 0.577 1.000 103,81,22,0.214 113,112,1,0.009 6.381 8.001 chr11 61213502 61213502 C T exonic SDHAF2 nonsynonymous SNV SDHAF2:NM_017841:exon4:c.C460T:p.R154C Score=448;Name=lod=88 ID=COSM193304;OCCURENCE=1(lung),1(large_intestine) 0.05 0.98077 C 0.94 T 0.999 D 0.999998 D 0.997725 D 4.08 76 52 0.406 131 0 0.000 1.60931419376863022e-19 0.577 --- 100,61,39,0.390 108,108,0,0.000 14.487 60 chr11 62902219 62902219 G T exonic SLC22A24 nonsynonymous SNV SLC22A24:NM_001136506:exon2:c.C424A:p.Q142K 0.02 53 17 0.243 57 0 0.000 2.2634436389582315e-05 0.412 --- 54,40,14,0.259 48,48,0,0.000 4.203 13.921 chr11 67817531 67817531 G A exonic TCIRG1 nonsynonymous SNV TCIRG1:NM_006053:exon12:c.G1468A:p.E490K,TCIRG1:NM_006019:exon17:c.G2116A:p.E706K 0.000077 0.0009 rs200160870 0.16 0.847956 N 0.78 T 0.0080 B 0.967933 N 0.992809 D -0.939 69 28 0.289 122 0 0.000 1.00117899318803576e-11 0.786 --- 89,60,28,0.318 102,102,0,0.000 10.548 13.732 chr11 70007389 70007389 C T exonic ANO1 synonymous SNV ANO1:NM_018043:exon17:c.C1701T:p.T567T 99 61 0.381 210 0 0.000 2.08375141038141676e-26 0.475 --- 132,80,52,0.394 162,161,0,0.000 20.991 60 chr11 70332443 70332443 C T exonic SHANK2 nonsynonymous SNV SHANK2:NM_133266:exon10:c.G2191A:p.V731M Score=295;Name=lod=21 0.02 0.998352 C 0.98 D 0.474 P 0.990706 N 0.163479 N 4.89 132 95 0.419 242 0 0.000 2.78295929662601598e-36 0.453 --- 194,112,81,0.420 203,203,0,0.000 30.051 60 chr11 76890958 76890958 G A exonic MYO7A nonsynonymous SNV MYO7A:NM_000260:exon21:c.G2545A:p.G849S,MYO7A:NM_001127179:exon21:c.G2545A:p.G849S,MYO7A:NM_001127180:exon21:c.G2545A:p.G849S Score=584;Name=lod=316 0.09 122 75 0.381 272 0 0.000 2.42947266382507722e-33 0.440 --- 159,102,57,0.358 211,210,0,0.000 23.852 9.25 chr11 78600941 78600941 G A exonic TENM4 nonsynonymous SNV TENM4:NM_001098816:exon9:c.C973T:p.R325W Score=661;Name=lod=649 0 123 88 0.417 298 0 0.000 3.50383361239557173e-40 0.511 --- 176,102,72,0.414 228,228,0,0.000 30.738 60 chr11 122647762 122647762 G T exonic UBASH3B synonymous SNV UBASH3B:NM_032873:exon3:c.G246T:p.L82L Score=612;Name=lod=411 118 28 0.192 197 0 0.000 7.99973409729928605e-12 0.536 --- 122,102,20,0.164 163,163,0,0.000 7.789 10.506 chr11 123847714 123847714 C T exonic OR10S1 nonsynonymous SNV OR10S1:NM_001004474:exon1:c.G685A:p.V229I ID=COSM202910;OCCURENCE=1(large_intestine) 0.41 1.75E-4 N 0.49 T 0.0 B 0.489095 N 1.5E-4 N -9.0 156 32 0.170 207 0 0.000 1.06323781116365041e-11 0.406 --- 169,139,30,0.178 185,185,0,0.000 10.274 60 chr11 124955556 124955556 G A exonic SLC37A2 nonsynonymous SNV SLC37A2:NM_001145290:exon16:c.G1411A:p.V471I,SLC37A2:NM_198277:exon16:c.G1411A:p.V471I 0.0005 ID=COSM166803;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) rs200333736 0.84 0.003243 N 0.0 T 0.0 B 0.584115 N 0.141326 N -8.04 53 50 0.485 138 0 0.000 4.36893532890725876e-23 0.320 --- 86,45,41,0.477 114,114,0,0.000 18.121 60 chr12 10959213 10959213 T A exonic TAS2R8 stopgain TAS2R8:NM_023918:exon1:c.A367T:p.K123X Score=346;Name=lod=34 0 0.949421 N 0.899931 NA 0.726112 NA 0.993592 U 1.0 D 3.49 165 27 0.141 208 0 0.000 8.91438971392391763e-10 0.630 --- 172,143,29,0.169 180,180,0,0.000 9.591 60 chr12 25398284 25398284 C A exonic KRAS nonsynonymous SNV KRAS:NM_004985:exon2:c.G35T:p.G12V,KRAS:NM_033360:exon2:c.G35T:p.G12V Score=706;Name=lod=982 ID=COSM1140133,COSM520;OCCURENCE=2(pleura),235(ovary),7(breast),3(NS),26(stomach),31(haematopoietic_and_lymphoid_tissue),2(kidney),4(soft_tissue),10(urinary_tract),1162(pancreas),4(peritoneum),5(liver),2(oesophagus),1(autonomic_ganglia),5(gastrointestinal_tract_(site_indeterminate)),19(skin),38(prostate),726(lung),4(cervix),12(thyroid),3(upper_aerodigestive_tract),6(testis),1(eye),2(thymus),3613(large_intestine),1(central_nervous_system),19(small_intestine),101(biliary_tract),90(endometrium) 0.033 rs121913529 0.01 0.998873 C 1.0 D 0.91 D 1.0 D 0.999996 D 5.24 78 53 0.405 139 0 0.000 2.44167577114649249e-20 0.509 --- 101,60,41,0.406 114,114,0,0.000 15.804 60 chr12 48144946 48144946 C T exonic RAPGEF3 nonsynonymous SNV RAPGEF3:NM_001098532:exon5:c.G430A:p.G144R,RAPGEF3:NM_001098531:exon6:c.G556A:p.G186R,RAPGEF3:NM_006105:exon6:c.G430A:p.G144R Score=295;Name=lod=21 0.000079 rs149525116 0.13 0.967193 C 0.42 T 0.0030 B 0.910194 N 0.687912 D 3.17 169 82 0.327 246 0 0.000 2.03249241572821787e-28 0.463 --- 204,136,68,0.333 200,200,0,0.000 23.000 60 chr12 81101828 81101828 C T exonic MYF6 synonymous SNV MYF6:NM_002469:exon1:c.C330T:p.N110N Score=544;Name=lod=216 165 153 0.481 343 0 0.000 2.49912600127325485e-60 0.542 --- 271,139,131,0.485 297,297,0,0.000 51.789 60 chr12 85492649 85492649 C A exonic LRRIQ1 nonsynonymous SNV LRRIQ1:NM_001079910:exon13:c.C3086A:p.P1029Q Score=389;Name=lod=51 0 0.998226 C 0.97 D 0.70808 NA 0.99998 D 0.717991 NA 4.83 72 10 0.122 74 0 0.000 0.0016309181334511764 0.800 --- 66,57,9,0.136 61,61,0,0.000 2.513 3.918 chr12 96104363 96104363 T C exonic NTN4 nonsynonymous SNV NTN4:NM_021229:exon5:c.A1036G:p.N346D 0.47 0.776658 N 0.58 T 0.0 B 0.973847 N 0.047456 N 0.308 94 50 0.347 138 0 0.000 1.71357181320273277e-17 0.360 --- 118,80,38,0.322 115,115,0,0.000 12.640 60 chr12 121176678 121176678 G A exonic ACADS nonsynonymous SNV ACADS:NM_000017:exon8:c.G989A:p.R330H Score=613;Name=lod=415 ID=COSM467904;OCCURENCE=1(kidney),1(prostate),1(large_intestine) rs199633532 0.03 0.998673 C 0.96 D 0.894 D 1.0 D 0.999657 D 4.28 121 57 0.320 206 0 0.000 3.02344306759109535e-22 0.439 --- 155,104,51,0.329 162,160,0,0.000 17.886 60 chr12 122674756 122674756 C T exonic LRRC43 nonsynonymous SNV LRRC43:NM_001098519:exon5:c.C742T:p.R248W,LRRC43:NM_152759:exon5:c.C187T:p.R63W 0.000078 0 0.013708 N 0.98 D 0.854 D 0.142908 N 0.70681 D -9.2 125 26 0.172 163 0 0.000 1.59631955819091299e-09 0.462 --- 125,99,25,0.202 124,122,0,0.000 7.804 60 chr12 123187006 123187006 C T exonic HCAR2 synonymous SNV HCAR2:NM_177551:exon1:c.G825A:p.A275A Score=0.970908;Name=chr12:123191091 rs202067823 176 116 0.397 275 0 0.000 3.2049012604904742e-40 0.397 --- 263,149,113,0.431 229,229,0,0.000 37.086 60 chr12 125438480 125438480 G A exonic DHX37 nonsynonymous SNV DHX37:NM_032656:exon20:c.C2641T:p.R881W Score=602;Name=lod=373 0 0.999457 C 1.0 D 1.0 D 1.0 D 0.999995 D 3.61 282 33 0.105 289 0 0.000 2.10519867735278975e-10 0.606 --- 274,243,29,0.107 241,241,0,0.000 8.028 8.999 chr13 28240082 28240082 C T exonic POLR1D nonsynonymous SNV POLR1D:NM_001206559:exon3:c.C277T:p.R93W,POLR1D:NM_152705:exon3:c.C361T:p.R121W Score=349;Name=lod=35 0.01 0.820125 N 1.0 D 0.932 D 0.941593 U 1.79E-4 N 2.82 77 68 0.469 128 0 0.000 1.24372282184503626e-23 0.353 --- 121,64,57,0.471 106,106,0,0.000 19.040 60 chr13 29933441 29933441 C T exonic MTUS2 nonsynonymous SNV MTUS2:NM_001033602:exon6:c.C2978T:p.P993L 0.01 194 87 0.310 243 0 0.000 2.03319905538215343e-27 0.713 --- 240,160,80,0.333 204,203,0,0.000 24.459 60 chr13 32841370 32841370 C T exonic FRY synonymous SNV FRY:NM_023037:exon55:c.C8010T:p.A2670A Score=361;Name=lod=39 103 13 0.112 94 0 0.000 0.000341774546108802157 0.385 --- 103,91,12,0.117 82,81,0,0.000 2.884 5.664 chr13 39261643 39261643 G A exonic FREM2 synonymous SNV FREM2:NM_207361:exon1:c.G162A:p.A54A 254 78 0.235 322 0 0.000 7.30839950274934143e-26 0.474 --- 286,215,70,0.246 264,264,0,0.000 21.872 60 chr13 39263610 39263610 G A exonic FREM2 nonsynonymous SNV FREM2:NM_207361:exon1:c.G2129A:p.R710H Score=560;Name=lod=252 0.000077 0.31 0.99977 C 0.47 T 0.0010 B 0.999945 D 0.62256 D 5.62 108 66 0.379 158 0 0.000 2.08020495127403806e-22 0.561 --- 143,93,50,0.350 134,134,0,0.000 16.547 60 chr13 46287687 46287687 G A exonic SPERT nonsynonymous SNV SPERT:NM_152719:exon3:c.G527A:p.R176Q 0.25 0.992756 C 0.75 T 0.996 D 0.998515 N 0.266322 N 3.75 214 75 0.260 273 0 0.000 1.77080912214162529e-24 0.413 --- 246,180,66,0.268 236,236,0,0.000 21.412 60 chr13 52542667 52542667 G A exonic ATP7B synonymous SNV ATP7B:NM_000053:exon4:c.C1620T:p.L540L,ATP7B:NM_001005918:exon4:c.C1620T:p.L540L,ATP7B:NM_001243182:exon5:c.C1287T:p.L429L 0.002454 0.0014 ID=COSM1245778;OCCURENCE=1(oesophagus) 0.0082 rs145798966 189 58 0.235 206 0 0.000 2.88123712510093909e-17 0.483 --- 184,141,43,0.234 162,161,0,0.000 12.831 10.164 chr13 52952172 52952172 C A exonic THSD1 nonsynonymous SNV THSD1:NM_199263:exon4:c.G1774T:p.A592S,THSD1:NM_018676:exon5:c.G1933T:p.A645S 0.71 0.989036 C 0.38 T 0.0 B 0.827812 N 5.89E-4 N -1.21 194 34 0.149 210 1 0.005 1.1715282402535418e-09 0.471 1.000 202,171,31,0.153 184,183,1,0.005 7.707 12.683 chr13 110434917 110434917 A G exonic IRS2 nonsynonymous SNV IRS2:NM_003749:exon1:c.T3484C:p.S1162P Score=391;Name=lod=52 0.13 0.996838 C 0.74 T 0.945 D 0.99998 U 2.61E-4 N 3.87 186 146 0.440 311 0 0.000 2.63436286118630251e-51 0.514 --- 296,164,132,0.446 271,270,0,0.000 44.974 60 chr14 20389667 20389667 T A exonic OR4K5 nonsynonymous SNV OR4K5:NM_001005483:exon1:c.T902A:p.I301N 0 0.994543 C 1.0 D 0.339 P 0.994101 N 0.560332 D 3.72 129 52 0.287 176 0 0.000 7.82955138592053124e-18 0.442 --- 150,106,44,0.293 143,142,1,0.007 12.912 60 chr14 20848502 20848502 G T exonic TEP1 nonsynonymous SNV TEP1:NM_007110:exon34:c.C4895A:p.P1632H Score=468;Name=lod=106 0 0.999763 C 1.0 D 0.999 D 1.0 D 0.58798 D 5.6 140 80 0.364 266 0 0.000 1.95173312068118893e-32 0.500 --- 192,123,69,0.359 225,225,0,0.000 26.734 60 chr14 24620000 24620000 G A exonic RNF31 nonsynonymous SNV RNF31:NM_017999:exon8:c.G1391A:p.R464H 0.0005 rs138947287 0.24 0.832902 N 0.88 T 0.0 B 0.60667 N 0.005425 N -1.06 37 18 0.327 67 0 0.000 9.62056446396848828e-08 0.500 --- 51,34,17,0.333 59,59,0,0.000 6.417 13.404 chr14 24650985 24650985 G A exonic IPO4 nonsynonymous SNV IPO4:NM_024658:exon27:c.C2872T:p.R958C Score=557;Name=lod=244 0.13 0.994704 C 0.79 T 0.25 P 0.990469 N 0.479889 N 2.97 114 57 0.333 189 0 0.000 1.03258727363796324e-21 0.439 --- 149,99,50,0.336 153,153,0,0.000 17.523 14.507 chr14 24897059 24897059 C T exonic CBLN3 nonsynonymous SNV CBLN3:NM_001039771:exon3:c.G554A:p.R185Q Score=609;Name=lod=397 0.000077 rs201500795 0.02 0.998792 C 0.94 T 0.992 D 0.999792 D 0.370842 N 5.18 100 25 0.200 161 0 0.000 2.316170623744087e-10 0.640 --- 99,77,22,0.222 138,138,0,0.000 9.000 14.75 chr14 55408380 55408380 G A exonic WDHD1 nonsynonymous SNV WDHD1:NM_001008396:exon25:c.C2849T:p.T950M,WDHD1:NM_007086:exon26:c.C3218T:p.T1073M 0.000077 0.02 0.90625 N 0.99 D 0.05 B 0.820584 N 0.867844 D 1.88 89 34 0.276 135 0 0.000 7.24053538270160444e-13 0.294 --- 104,76,28,0.269 112,112,0,0.000 9.833 60 chr14 60193800 60193800 G A exonic RTN1 synonymous SNV RTN1:NM_021136:exon3:c.C1602T:p.P534P 184 44 0.193 275 1 0.004 1.55138475862126171e-15 0.523 0.000 205,165,40,0.195 237,235,1,0.004 12.895 13.239 chr14 77873878 77873878 C T exonic NOXRED1 nonsynonymous SNV NOXRED1:NM_001113475:exon3:c.G460A:p.V154I 0.008304 0.01 0.0082 rs141189280 0.27 0.001012 N 0.83 T 0.0 B 0.316732 N 2.95E-4 N -10.8 41 24 0.369 87 0 0.000 7.25015808997305166e-11 0.333 --- 59,35,24,0.407 66,66,0,0.000 9.173 60 chr14 91770153 91770153 G A exonic CCDC88C nonsynonymous SNV CCDC88C:NM_001080414:exon20:c.C3527T:p.T1176M 0.000391 0.0005 rs200901253 0.27 111 62 0.358 241 0 0.000 1.43559781471822716e-27 0.468 --- 156,98,57,0.368 203,203,0,0.000 23.819 60 chr15 23811727 23811727 C T exonic MKRN3 synonymous SNV MKRN3:NM_005664:exon1:c.C798T:p.C266C Score=499;Name=lod=142 0.000461 ID=COSM96028;OCCURENCE=1(lung) rs145255803 96 68 0.415 288 0 0.000 1.89544374291029793e-35 0.515 --- 142,81,60,0.426 255,254,1,0.004 29.632 15.654 chr15 34542557 34542557 C A splicing SLC12A6 NM_001042497:exon12:c.1547-1G>T,NM_001042496:exon14:c.1565-1G>T,NM_005135:exon13:c.1439-1G>T,NM_001042495:exon14:c.1415-1G>T,NM_001042494:exon14:c.1415-1G>T,NM_133647:exon13:c.1592-1G>T Score=554;Name=lod=238 32 6 0.158 36 0 0.000 0.0254167504584838846 0.333 --- 29,24,5,0.172 31,31,0,0.000 1.663 5.792 chr15 41030768 41030768 C T exonic RMDN3 synonymous SNV RMDN3:NM_018145:exon8:c.G978A:p.A326A Score=604;Name=lod=380 75 16 0.176 103 0 0.000 2.55639452141176643e-06 0.312 --- 70,56,14,0.200 83,83,0,0.000 5.093 9.072 chr15 44211713 44211713 G A exonic FRMD5 synonymous SNV FRMD5:NM_032892:exon4:c.C273T:p.C91C Score=495;Name=lod=137 63 22 0.259 93 0 0.000 1.70256021305252043e-08 0.545 --- 70,52,18,0.257 70,70,0,0.000 5.662 14.239 chr15 50264895 50264895 G A exonic ATP8B4 nonsynonymous SNV ATP8B4:NM_024837:exon13:c.C1127T:p.T376M Score=449;Name=lod=89 0 0.999038 C 1.0 D 0.961 D 0.999988 D 0.993525 D 4.53 77 68 0.469 200 0 0.000 1.76789726966905391e-31 0.471 --- 113,60,53,0.469 152,152,0,0.000 23.579 60 chr15 74327841 74327841 G A exonic PML nonsynonymous SNV PML:NM_033250:exon7:c.G1895A:p.R632Q,PML:NM_033239:exon8:c.G2039A:p.R680Q 0.000077 rs141894268 0.14 0.785726 N 0.85 T 0.415094 NA 0.798075 NA 1.28E-4 N -0.833 88 77 0.467 196 0 0.000 2.17232998154247902e-32 0.519 --- 146,75,71,0.486 168,168,0,0.000 28.879 60 chr15 89402162 89402162 G A exonic ACAN nonsynonymous SNV ACAN:NM_001135:exon12:c.G6346A:p.A2116T,ACAN:NM_013227:exon12:c.G6346A:p.A2116T 0.43 181 56 0.236 222 0 0.000 2.38911774915282366e-18 0.518 --- 209,159,50,0.239 194,193,0,0.000 15.350 60 chr15 91462954 91462954 C T exonic MAN2A2 synonymous SNV MAN2A2:NM_006122:exon22:c.C3390T:p.S1130S Score=433;Name=lod=77 80 19 0.192 135 0 0.000 2.66842072712187197e-08 0.632 --- 80,65,15,0.188 103,103,0,0.000 5.742 11.47 chr16 4310498 4310498 G T exonic TFAP4 nonsynonymous SNV TFAP4:NM_003223:exon5:c.C624A:p.H208Q Score=626;Name=lod=467 0.27 0.985745 C 0.51 T 0.351724 NA 0.923442 N 0.347206 N 3.44 78 62 0.443 154 0 0.000 1.11958687981192966e-24 0.468 --- 113,63,50,0.442 123,123,0,0.000 19.163 60 chr16 4438057 4438057 C T exonic CORO7,CORO7-PAM16 nonsynonymous SNV CORO7:NM_001201473:exon7:c.G460A:p.E154K,CORO7:NM_001201472:exon9:c.G661A:p.E221K,CORO7-PAM16:NM_001201479:exon9:c.G715A:p.E239K,CORO7:NM_024535:exon9:c.G715A:p.E239K Score=426;Name=lod=72 0.02 0.998629 C 0.98 D 0.98 D 0.992153 NA 0.779286 NA 5.07 134 40 0.230 198 0 0.000 4.2792317224221376e-15 0.375 --- 147,113,34,0.231 161,161,0,0.000 11.901 13.578 chr16 4626416 4626416 C T exonic C16orf96 synonymous SNV C16orf96:NM_001145011:exon5:c.C1935T:p.Y645Y 154 115 0.428 234 0 0.000 2.5288778228076749e-38 0.452 --- 231,131,99,0.430 206,206,0,0.000 32.864 60 chr16 51172850 51172850 C T exonic SALL1 nonsynonymous SNV SALL1:NM_001127892:exon2:c.G2992A:p.V998I,SALL1:NM_002968:exon2:c.G3283A:p.V1095I Score=576;Name=lod=292 Score=0.910412;Name=chrX:49428354 0.43 0.813375 N 0.57 T 0.01 B 0.985422 N 2.16E-4 N 1.74 99 44 0.308 214 0 0.000 3.15634047035255948e-20 0.409 --- 121,85,36,0.298 187,187,0,0.000 16.205 60 chr16 64984692 64984692 G A exonic CDH11 synonymous SNV CDH11:NM_001797:exon12:c.C1872T:p.L624L 146 23 0.136 208 0 0.000 3.99827118004847905e-09 0.609 --- 137,119,18,0.131 165,165,0,0.000 6.462 8.887 chr16 67333285 67333285 C T exonic KCTD19 nonsynonymous SNV KCTD19:NM_001100915:exon6:c.G967A:p.V323I Score=417;Name=lod=66 0.999319 C 0.65 T 0.019 B 0.999623 D 4.92E-4 N 4.61 64 54 0.458 164 0 0.000 4.09185843671787121e-25 0.741 --- 103,56,47,0.456 132,132,0,0.000 20.152 60 chr16 88502965 88502965 C T exonic ZNF469 synonymous SNV ZNF469:NM_001127464:exon2:c.C9003T:p.D3001D ID=COSM974696;OCCURENCE=1(large_intestine),1(endometrium) 155 77 0.332 251 1 0.004 4.6641241799212028e-27 0.416 0.000 198,133,65,0.328 206,205,1,0.005 21.228 60 chr17 1400040 1400040 C T exonic INPP5K nonsynonymous SNV INPP5K:NM_016532:exon9:c.G1021A:p.V341M,INPP5K:NM_130766:exon10:c.G793A:p.V265M,INPP5K:NM_001135642:exon11:c.G793A:p.V265M 0.001076 0.0005 rs148097008 0.15 0.180289 N 0.82 T 0.0 B 0.95024 N 1.02E-4 N 1.02 75 16 0.176 124 0 0.000 4.6322430113418341e-07 0.375 --- 75,63,12,0.160 99,99,0,0.000 4.621 14.386 chr17 1840295 1840295 C T exonic RTN4RL1 nonsynonymous SNV RTN4RL1:NM_178568:exon2:c.G821A:p.R274Q Score=340;Name=lod=32 0.02 26 10 0.278 36 0 0.000 0.00047404177473366129 0.100 --- 35,26,9,0.257 36,36,0,0.000 3.023 9.153 chr17 7577124 7577124 C T exonic TP53 nonsynonymous SNV TP53:NM_001126115:exon4:c.G418A:p.V140M,TP53:NM_001126116:exon4:c.G418A:p.V140M,TP53:NM_001126117:exon4:c.G418A:p.V140M,TP53:NM_001276697:exon4:c.G337A:p.V113M,TP53:NM_001276698:exon4:c.G337A:p.V113M,TP53:NM_001276699:exon4:c.G337A:p.V113M,TP53:NM_001126118:exon7:c.G697A:p.V233M,TP53:NM_000546:exon8:c.G814A:p.V272M,TP53:NM_001126112:exon8:c.G814A:p.V272M,TP53:NM_001126113:exon8:c.G814A:p.V272M,TP53:NM_001126114:exon8:c.G814A:p.V272M,TP53:NM_001276695:exon8:c.G697A:p.V233M,TP53:NM_001276696:exon8:c.G697A:p.V233M,TP53:NM_001276760:exon8:c.G697A:p.V233M,TP53:NM_001276761:exon8:c.G697A:p.V233M Score=410;Name=lod=62 ID=COSM10891,COSM99950;OCCURENCE=1(vulva),13(ovary),1(bone),9(breast),5(haematopoietic_and_lymphoid_tissue),3(stomach),1(soft_tissue),2(urinary_tract),2(kidney),2(pancreas),2(liver),7(oesophagus),6(lung),2(upper_aerodigestive_tract),16(large_intestine),5(central_nervous_system),1(endometrium) 0 0.998946 C 1.0 D 0.995 D 0.999999 D 0.999999 D 4.78 100 26 0.206 155 0 0.000 1.80717186755709712e-10 0.308 --- 108,86,22,0.204 128,128,0,0.000 8.028 5.738 chr17 7673601 7673601 C T exonic DNAH2 nonsynonymous SNV DNAH2:NM_020877:exon24:c.C3973T:p.R1325W 0 rs199664791 0.03 0.831356 N 0.97 D 0.67 P 0.987634 N 0.386441 N 0.409 126 23 0.154 216 0 0.000 3.80482657532152949e-10 0.609 --- 122,103,19,0.156 167,167,0,0.000 7.496 10.147 chr17 7734097 7734097 G A exonic DNAH2 nonsynonymous SNV DNAH2:NM_020877:exon78:c.G12167A:p.R4056H Score=583;Name=lod=311 0.000077 0 0.999632 C 1.0 D 1.0 D 1.0 D 0.974186 D 5.26 164 23 0.123 197 0 0.000 3.10430799857712318e-08 0.478 --- 153,134,19,0.124 171,171,0,0.000 6.464 4.985 chr17 10222127 10222127 C A exonic MYH13 stopgain MYH13:NM_003802:exon27:c.G3718T:p.E1240X Score=635;Name=lod=508 0.01 213 30 0.123 362 0 0.000 4.18822204266861577e-13 0.733 --- 205,179,26,0.127 284,284,0,0.000 10.242 8.96 chr17 10355407 10355407 G A exonic MYH4 nonsynonymous SNV MYH4:NM_017533:exon27:c.C3589T:p.R1197W 0.02296 N 1.0 D 1.0 D 0.998357 U 0.07621 N -10.9 266 64 0.194 371 0 0.000 3.20315738482215256e-23 0.562 --- 283,229,53,0.188 320,320,0,0.000 18.699 60 chr17 38562660 38562660 A C exonic TOP2A synonymous SNV TOP2A:NM_001067:exon16:c.T1929G:p.P643P Score=535;Name=lod=199 79 11 0.122 129 0 0.000 3.8571650885872851e-05 1.000 --- 92,68,23,0.253 100,99,0,0.000 8.072 6.56 chr17 38610285 38610285 G T exonic IGFBP4 nonsynonymous SNV IGFBP4:NM_001552:exon3:c.G613T:p.D205Y Score=559;Name=lod=250 0 0.999752 C 0.99 D 1.0 D 1.0 D 0.919656 D 5.56 85 53 0.384 146 0 0.000 4.12008935912347266e-20 0.623 --- 110,65,45,0.409 121,121,0,0.000 17.084 60 chr17 40828577 40828577 G A exonic PLEKHH3 nonsynonymous SNV PLEKHH3:NM_024927:exon1:c.C5T:p.P2L Score=646;Name=lod=562 0 0.975511 C 1.0 D 0.992 D 0.888219 N 0.051633 N 3.22 108 23 0.176 173 0 0.000 1.1761742374438596e-09 0.217 --- 118,94,23,0.197 151,151,0,0.000 8.863 8.379 chr17 71354234 71354234 G T exonic SDK2 synonymous SNV SDK2:NM_001144952:exon40:c.C5577A:p.I1859I Score=554;Name=lod=239 159 34 0.176 215 0 0.000 1.65273921344135294e-12 0.588 --- 155,128,27,0.174 168,167,1,0.006 7.838 7.708 chr17 78727859 78727859 C T exonic RPTOR nonsynonymous SNV RPTOR:NM_001163034:exon6:c.C704T:p.P235L,RPTOR:NM_020761:exon6:c.C704T:p.P235L Score=295;Name=lod=21 0.981208 C 0.48 T 0.012 B 0.999998 N 0.996299 D 3.99 99 32 0.244 180 0 0.000 8.07069988852784885e-14 0.688 --- 109,83,26,0.239 147,147,0,0.000 10.480 13.033 chr18 24496352 24496352 G A exonic CHST9 synonymous SNV CHST9:NM_031422:exon6:c.C1203T:p.S401S 0.000253 65 30 0.316 154 0 0.000 1.00547120502747892e-14 0.400 --- 87,59,28,0.322 135,134,0,0.000 12.685 13.977 chr18 44113161 44113161 G A exonic LOXHD1 nonsynonymous SNV LOXHD1:NM_001145472:exon10:c.C1006T:p.R336W,LOXHD1:NM_144612:exon28:c.C4339T:p.R1447W Score=611;Name=lod=407 0.01 92 43 0.319 178 0 0.000 2.19024703867951299e-18 0.628 --- 112,75,36,0.324 135,135,0,0.000 14.052 13.938 chr18 47801498 47801498 C T splicing MBD1 NM_001204141:exon9:c.762+1G>A,NM_001204139:exon10:c.909+1G>A,NM_001204143:exon10:c.909+1G>A,NM_001204142:exon10:c.909+1G>A,NM_001204136:exon10:c.909+1G>A,NM_015844:exon10:c.909+1G>A,NM_015846:exon10:c.909+1G>A,NM_015847:exon9:c.762+1G>A,NM_015845:exon10:c.909+1G>A,NM_002384:exon10:c.909+1G>A,NM_001204138:exon11:c.984+1G>A,NM_001204137:exon11:c.984+1G>A,NM_001204140:exon11:c.984+1G>A,NM_001204151:exon9:c.909+1G>A Score=340;Name=lod=32 100 52 0.342 177 0 0.000 1.26803587816574566e-20 0.500 --- 119,75,44,0.370 149,149,0,0.000 17.863 60 chr19 691924 691924 G A exonic PRSS57 synonymous SNV PRSS57:NM_214710:exon3:c.C315T:p.I105I 170 25 0.128 213 0 0.000 4.09503028317689169e-09 0.400 --- 157,136,21,0.134 169,169,0,0.000 6.986 11.873 chr19 1057073 1057073 T C exonic ABCA7 nonsynonymous SNV ABCA7:NM_019112:exon34:c.T4754C:p.L1585P Score=522;Name=lod=176 0.02 0.993691 C 0.94 T 0.889 D 0.930783 NA 0.383299 N 2.68 168 90 0.349 290 0 0.000 1.6776570524775475e-34 0.378 --- 213,136,77,0.362 229,229,0,0.000 28.200 60 chr19 2810653 2810653 G A exonic THOP1 nonsynonymous SNV THOP1:NM_003249:exon11:c.G1658A:p.R553H Score=567;Name=lod=269 0 0.99754 C 1.0 D 0.997 D 0.999996 D 0.997133 D 3.84 161 117 0.421 311 0 0.000 5.23173077496820203e-46 0.479 --- 235,139,95,0.406 261,261,0,0.000 36.421 15.654 chr19 16025150 16025150 T A exonic CYP4F11 synonymous SNV CYP4F11:NM_021187:exon11:c.A1362T:p.S454S,CYP4F11:NM_001128932:exon12:c.A1362T:p.S454S 0.38 62 32 0.340 157 0 0.000 4.42044694340283789e-16 0.531 --- 80,53,26,0.329 123,123,0,0.000 11.888 13.938 chr19 16678972 16678972 C A exonic SLC35E1 nonsynonymous SNV SLC35E1:NM_024881:exon3:c.G501T:p.L167F Score=545;Name=lod=219 0.17 0.997892 C 0.8 T 0.0080 B 0.999889 D 0.524827 NA 3.41 121 63 0.342 194 0 0.000 2.73348108957344282e-23 0.286 --- 152,98,54,0.355 154,154,0,0.000 18.925 60 chr19 17403522 17403522 G T exonic ABHD8 stopgain ABHD8:NM_024527:exon5:c.C1268A:p.S423X 1 0.79631 N 0.900858 NA 0.54008 NA 0.098211 N 0.989654 D -2.72 183 23 0.112 232 0 0.000 1.46681474595735837e-08 0.348 --- 175,155,20,0.114 189,189,0,0.000 6.620 7.953 chr19 17403523 17403523 A C exonic ABHD8 nonsynonymous SNV ABHD8:NM_024527:exon5:c.T1267G:p.S423A 0.52 0.012387 N 0.66 T 0.086932 NA 0.098211 N 6.16E-4 N -2.21 181 25 0.121 230 0 0.000 3.19858272202673099e-09 0.360 --- 176,155,21,0.119 189,189,0,0.000 6.937 8.37 chr19 31769760 31769760 G A exonic TSHZ3 synonymous SNV TSHZ3:NM_020856:exon2:c.C939T:p.A313A Score=441;Name=lod=83 0.000077 0.0005 rs139336851 232 93 0.286 315 0 0.000 2.21668495486029747e-31 0.441 --- 279,196,81,0.292 262,261,0,0.000 26.106 60 chr19 36884212 36884212 C T exonic ZFP82 nonsynonymous SNV ZFP82:NM_133466:exon5:c.G1030A:p.G344R Score=516;Name=lod=166 0 0.998262 C 1.0 D 0.986 D 0.999651 D 0.788072 NA 3.76 212 35 0.142 179 0 0.000 1.999620475392718e-09 0.429 --- 203,172,31,0.153 151,151,0,0.000 7.664 15.955 chr19 41066087 41066087 C T exonic SPTBN4 nonsynonymous SNV SPTBN4:NM_025213:exon10:c.C1721T:p.A574V,SPTBN4:NM_020971:exon27:c.C5693T:p.A1898V Score=495;Name=lod=137 0 0.997996 C 0.99 D 0.918 D 0.999995 U 0.681037 D 4.19 326 44 0.119 252 0 0.000 4.82538260001268824e-11 0.568 --- 318,274,44,0.138 226,226,0,0.000 10.799 3.675 chr19 41114207 41114207 G T exonic LTBP4 unknown UNKNOWN Score=501;Name=lod=145 0.04 119 130 0.522 220 0 0.000 5.33991168659841195e-46 0.631 --- 204,98,106,0.520 187,187,0,0.000 37.770 60 chr19 47706961 47706961 G A exonic SAE1 nonsynonymous SNV SAE1:NM_001145714:exon7:c.G767A:p.R256Q 114 17 0.130 88 0 0.000 0.00013452477024600092 0.706 --- 105,92,13,0.124 76,75,0,0.000 3.105 7.911 chr19 55816128 55816128 G A exonic BRSK1 synonymous SNV BRSK1:NM_032430:exon14:c.G1557A:p.S519S Score=495;Name=lod=137 214 24 0.101 184 0 0.000 1.20211922518893846e-06 0.292 --- 227,204,23,0.101 175,174,0,0.000 5.625 3.059 chr19 57174958 57174958 C A exonic ZNF835 nonsynonymous SNV ZNF835:NM_001005850:exon2:c.G1609T:p.D537Y 0 269 32 0.106 216 0 0.000 1.85599393729601646e-08 0.656 --- 266,239,27,0.102 184,184,0,0.000 6.277 6.601 chr20 25062723 25062723 G A exonic VSX1 nonsynonymous SNV VSX1:NM_001256271:exon1:c.C10T:p.R4W,VSX1:NM_001256272:exon1:c.C10T:p.R4W,VSX1:NM_014588:exon1:c.C10T:p.R4W,VSX1:NM_199425:exon1:c.C10T:p.R4W Score=374;Name=lod=44 0 0.785232 N 1.0 D 0.997 D 0.99986 D 0.75517 NA -1.11 168 21 0.111 202 0 0.000 1.27766642941999878e-07 0.286 --- 160,138,21,0.132 173,173,0,0.000 7.034 8.186 chr20 42683164 42683164 C T exonic TOX2 stopgain TOX2:NM_001098796:exon5:c.C751T:p.Q251X,TOX2:NM_001098797:exon5:c.C877T:p.Q293X,TOX2:NM_001098798:exon5:c.C904T:p.Q302X,TOX2:NM_032883:exon6:c.C751T:p.Q251X Score=598;Name=lod=358 0 0.99867 C 0.903762 NA 0.735341 NA 1.0 D 1.0 A 5.09 139 27 0.163 171 0 0.000 1.5492211569897174e-09 0.296 --- 143,120,23,0.161 140,139,0,0.000 7.021 6.377 chr20 45865121 45865121 G A exonic ZMYND8 synonymous SNV ZMYND8:NM_012408:exon16:c.C2667T:p.I889I,ZMYND8:NM_183047:exon16:c.C2667T:p.I889I,ZMYND8:NM_183048:exon16:c.C2592T:p.I864I Score=458;Name=lod=97 0.0005 rs189683462 157 89 0.362 237 0 0.000 5.66254812609781649e-31 0.573 --- 208,136,72,0.346 194,194,0,0.000 23.647 60 chr20 60572691 60572691 C T exonic TAF4 nonsynonymous SNV TAF4:NM_003185:exon14:c.G3005A:p.R1002Q Score=440;Name=lod=82 0 0.999058 C 0.98 D 1.0 D 1.0 D 0.999953 D 5.43 115 38 0.248 200 0 0.000 8.28113075268516882e-16 0.342 --- 134,102,32,0.239 165,165,0,0.000 12.158 13.448 chr21 34400120 34400120 G A exonic OLIG2 nonsynonymous SNV OLIG2:NM_005806:exon2:c.G950A:p.R317H Score=493;Name=lod=135 0.997069 C 1.0 D 0.778376 NA 0.999999 U 0.954213 D 3.18 124 53 0.299 189 0 0.000 1.66539152399286568e-19 0.434 --- 142,99,43,0.303 165,165,0,0.000 16.146 7.48 chr21 37741424 37741424 C A exonic MORC3 synonymous SNV MORC3:NM_015358:exon15:c.C1758A:p.P586P Score=531;Name=lod=192 147 38 0.205 210 0 0.000 3.20437891587616194e-14 0.605 --- 155,123,32,0.206 174,174,0,0.000 11.278 15.477 chr21 38597910 38597910 C T exonic DSCR3 nonsynonymous SNV DSCR3:NM_006052:exon8:c.G829A:p.V277M Score=333;Name=lod=30 0 0.998 C 1.0 D 0.157 P 1.0 D 0.99926 D 4.73 51 34 0.400 105 0 0.000 1.40168494819061232e-14 0.324 --- 70,43,27,0.386 85,85,0,0.000 10.797 9.611 chr21 47565450 47565450 G A exonic FTCD nonsynonymous SNV FTCD:NM_006657:exon10:c.C1141T:p.R381W,FTCD:NM_206965:exon10:c.C1141T:p.R381W Score=487;Name=lod=127 ID=COSM1207626;OCCURENCE=1(large_intestine) 0 0.968597 C 1.0 D 0.993 D 0.999996 D 0.632961 D 0.838 53 38 0.418 92 0 0.000 2.1016694951663093e-14 0.316 --- 76,45,31,0.408 77,77,0,0.000 11.110 60 chr22 28147005 28147005 G A exonic MN1 synonymous SNV MN1:NM_002430:exon2:c.C3861T:p.D1287D Score=660;Name=lod=639 ID=COSM1033018;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 121 34 0.219 180 0 0.000 4.71377476339629638e-13 0.500 --- 122,95,27,0.221 147,147,0,0.000 10.037 11.377 chr22 30125047 30125047 G A exonic CABP7 nonsynonymous SNV CABP7:NM_182527:exon4:c.G370A:p.D124N Score=500;Name=lod=144 0.07 0.999508 C 0.89 T 0.986 D 1.0 D 0.998099 D 4.52 119 23 0.162 136 0 0.000 1.01057343980842271e-07 0.565 --- 113,94,19,0.168 121,121,0,0.000 6.377 7.998 chr22 45684972 45684972 G A exonic UPK3A synonymous SNV UPK3A:NM_006953:exon4:c.G519A:p.T173T Score=417;Name=lod=66 0.000077 rs141099816 78 34 0.304 116 0 0.000 1.57330215609325231e-12 0.676 --- 92,64,28,0.304 94,92,0,0.000 9.182 60 chrX 18195711 18195711 C T exonic BEND2 synonymous SNV BEND2:NM_001184767:exon8:c.G1335A:p.P445P,BEND2:NM_153346:exon10:c.G1608A:p.P536P Score=432;Name=lod=76 0.000663 0.0006 ID=COSM39244;OCCURENCE=1(large_intestine),1(central_nervous_system) rs150572716 92 40 0.303 163 0 0.000 2.3130353653795926e-16 0.725 --- 118,81,37,0.314 135,134,0,0.000 13.737 60 chrX 63548730 63548730 G T exonic MTMR8 nonsynonymous SNV MTMR8:NM_017677:exon12:c.C1403A:p.P468Q Score=477;Name=lod=116 0.41 0.994977 C 0.57 T 0.0010 B 0.949383 U 0.004677 N 2.23 89 30 0.252 172 0 0.000 1.92333286403523346e-13 0.467 --- 92,69,23,0.250 129,129,0,0.000 9.545 13.77 chrX 70147832 70147832 C A exonic SLC7A3 nonsynonymous SNV SLC7A3:NM_001048164:exon6:c.G859T:p.G287C,SLC7A3:NM_032803:exon6:c.G859T:p.G287C Score=504;Name=lod=149 0 0.937199 N 1.0 D 0.948 D 0.999999 D 0.997615 D 2.64 119 32 0.212 145 0 0.000 9.00182526764181956e-11 0.312 --- 143,114,29,0.203 129,128,1,0.008 7.277 10.77 chrX 83359559 83359559 C A exonic RPS6KA6 nonsynonymous SNV RPS6KA6:NM_014496:exon17:c.G1562T:p.S521I Score=672;Name=lod=718 0 0.998493 C 1.0 D 0.999 D 1.0 D 0.999985 D 4.98 75 28 0.272 115 0 0.000 8.15150479509258051e-11 0.536 --- 83,62,21,0.253 93,93,0,0.000 7.518 13.295 chrX 118147091 118147091 G A exonic LONRF3 nonsynonymous SNV LONRF3:NM_024778:exon8:c.G1778A:p.R593H,LONRF3:NM_001031855:exon9:c.G1901A:p.R634H Score=489;Name=lod=129 0 0.999709 C 1.0 D 1.0 D 1.0 D 0.991645 D 5.44 144 38 0.209 179 0 0.000 8.7471910172922167e-13 0.474 --- 149,117,32,0.215 152,150,0,0.000 10.492 12.147 chrX 124029864 124029864 G T exonic TENM1 nonsynonymous SNV TENM1:NM_001163278:exon2:c.C444A:p.D148E,TENM1:NM_001163279:exon2:c.C444A:p.D148E,TENM1:NM_014253:exon2:c.C444A:p.D148E Score=670;Name=lod=706 0 0.99965 C 1.0 D 0.995 D 1.0 D 0.615369 D 4.16 107 33 0.236 213 0 0.000 4.30896984677123631e-15 0.667 --- 121,91,30,0.248 172,172,0,0.000 12.561 60 chrX 128599876 128599876 C T exonic SMARCA1 nonsynonymous SNV SMARCA1:NM_139035:exon21:c.G2726A:p.R909H,SMARCA1:NM_003069:exon22:c.G2762A:p.R921H Score=672;Name=lod=717 0 0.998419 C 0.98 D 0.985 D 0.999995 D 0.99897 D 4.92 52 7 0.119 64 0 0.000 0.00480317950976746282 0.571 --- 48,42,6,0.125 53,52,0,0.000 1.987 6.368 chrX 134186120 134186120 G T exonic FAM127B nonsynonymous SNV FAM127B:NM_001078172:exon1:c.C19A:p.L7M,FAM127B:NM_001134321:exon1:c.C19A:p.L7M Score=0.913364;Name=chrX:134155434 0 0.910676 N 0.743453 NA 0.24 P 0.827493 NA 1.35E-4 N 0.652 206 55 0.211 307 0 0.000 8.63216246193431885e-21 0.364 --- 225,178,47,0.209 267,267,0,0.000 17.231 60 chrX 135961571 135961571 G A exonic RBMX nonsynonymous SNV RBMX:NM_001164803:exon2:c.C16T:p.R6C,RBMX:NM_002139:exon2:c.C16T:p.R6C Score=644;Name=lod=552 0 rs185214281 0.04 0.99829 C 0.9 T 0.0020 B 0.999999 U 0.97566 D 4.09 130 33 0.202 186 0 0.000 1.80507494538865267e-12 0.333 --- 139,109,29,0.210 162,161,0,0.000 10.505 5.746 chrX 152686830 152686830 G A exonic ZFP92 nonsynonymous SNV ZFP92:NM_001136273:exon4:c.G995A:p.R332H 268 115 0.300 509 0 0.000 6.37107422125657427e-48 0.426 --- 341,233,106,0.313 435,435,0,0.000 42.742 60