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 18808385 18808385 G A exonic KLHDC7A nonsynonymous SNV KLHDC7A:NM_152375:exon1:c.G910A:p.G304S 0.55 0.917402 N 0.27 T 0.0010 B 0.031433 N 0.062831 N 1.46 195 53 0.214 230 0 0.000 7.15325054830678789e-17 0.585 --- 210,163,46,0.220 200,200,0,0.000 14.555 60 chr1 22974134 22974134 C A exonic C1QC nonsynonymous SNV C1QC:NM_001114101:exon3:c.C596A:p.T199N,C1QC:NM_172369:exon3:c.C596A:p.T199N 0.18 0.025175 N 0.33 T 0.0010 B 0.32529 N 0.002134 N -7.04 275 71 0.205 400 0 0.000 2.81094933505609797e-26 0.507 --- 310,245,65,0.210 349,349,0,0.000 23.011 60 chr1 109171104 109171104 T C exonic FAM102B nonsynonymous SNV FAM102B:NM_001010883:exon8:c.T740C:p.V247A Score=618;Name=lod=432 0.56 0.997015 C 0.0 T 0.024 B 0.999629 D 0.005118 N 4.88 121 43 0.262 205 0 0.000 2.15094423569441779e-17 0.651 --- 131,96,35,0.267 164,164,0,0.000 13.600 60 chr1 228033207 228033207 C T exonic PRSS38 nonsynonymous SNV PRSS38:NM_183062:exon4:c.C620T:p.P207L 0.000769 0.0005 rs150655378 0.09 0.997465 C 0.87 T 1.0 D 0.998884 N 0.958236 D 3.41 96 11 0.103 100 0 0.000 0.000789791269321659046 0.727 --- 90,81,9,0.100 84,84,0,0.000 2.483 5.625 chr1 228494090 228494090 C T exonic OBSCN nonsynonymous SNV OBSCN:NM_001098623:exon44:c.C11677T:p.R3893W,OBSCN:NM_052843:exon44:c.C11677T:p.R3893W,OBSCN:NM_001271223:exon55:c.C14548T:p.R4850W 0.02 117 28 0.193 160 0 0.000 2.00305478514852578e-10 0.679 --- 124,97,27,0.218 138,138,0,0.000 9.497 5.9 chr2 26717930 26717930 C T exonic OTOF synonymous SNV OTOF:NM_194248:exon9:c.G777A:p.T259T 88 14 0.137 122 0 0.000 9.80024357159044602e-06 0.500 --- 86,73,13,0.151 105,105,0,0.000 4.738 8.287 chr2 36982191 36982191 G A exonic VIT nonsynonymous SNV VIT:NM_001177969:exon5:c.G403A:p.V135I,VIT:NM_001177970:exon5:c.G403A:p.V135I,VIT:NM_001177971:exon5:c.G403A:p.V135I,VIT:NM_001177972:exon5:c.G403A:p.V135I,VIT:NM_053276:exon5:c.G403A:p.V135I 0.000308 rs138478832 0.1 0.800946 N 1.0 D 0.0030 B 0.998198 N 0.994786 D -0.754 150 18 0.107 167 0 0.000 4.71802891396628324e-06 0.278 --- 149,132,17,0.114 142,141,0,0.000 4.984 9.187 chr2 46231742 46231742 G A exonic PRKCE nonsynonymous SNV PRKCE:NM_005400:exon8:c.G1028A:p.R343Q Score=552;Name=lod=233 0.06 0.990582 C 0.58 T 0.155 P 0.999999 D 0.995548 D 3.39 92 15 0.140 149 0 0.000 1.12693898644443511e-06 0.600 --- 87,76,11,0.126 115,115,0,0.000 4.190 9.491 chr2 77745875 77745875 C T exonic LRRTM4 nonsynonymous SNV LRRTM4:NM_001134745:exon3:c.G1120A:p.V374M,LRRTM4:NM_024993:exon3:c.G1120A:p.V374M 0.25 167 47 0.220 276 0 0.000 5.10012748861992818e-19 0.362 --- 185,143,42,0.227 234,234,0,0.000 16.180 60 chr2 98340608 98340608 C T exonic ZAP70 nonsynonymous SNV ZAP70:NM_001079:exon3:c.C109T:p.R37C Score=711;Name=lod=1032 0 0.997459 C 1.0 D 1.0 D 0.999944 D 0.999977 D 4.17 315 36 0.103 260 0 0.000 1.23931469905753843e-09 0.611 --- 297,264,33,0.111 222,222,0,0.000 8.106 3.122 chr2 114699904 114699904 T G exonic ACTR3 nonsynonymous SNV ACTR3:NM_001277140:exon8:c.T673G:p.F225V,ACTR3:NM_005721:exon8:c.T826G:p.F276V Score=699;Name=lod=920 0 0.997777 C 1.0 D 1.0 D 1.0 D 0.999996 D 4.67 102 15 0.128 143 0 0.000 3.71535869095450813e-06 0.333 --- 105,93,12,0.114 116,116,0,0.000 4.030 8.253 chr2 179613520 179613520 G T exonic TTN nonsynonymous SNV TTN:NM_133379:exon46:c.C13607A:p.S4536Y Score=304;Name=lod=23 0 0.99238 C 0.783227 NA 0.416863 NA 0.859162 NA 0.012809 N 4.49 141 47 0.250 221 0 0.000 3.93876123359724291e-18 0.617 --- 162,122,40,0.247 188,188,0,0.000 14.661 13.946 chr2 179638722 179638722 G A exonic TTN synonymous SNV TTN:NM_003319:exon30:c.C7035T:p.D2345D,TTN:NM_133432:exon30:c.C7035T:p.D2345D,TTN:NM_133437:exon30:c.C7035T:p.D2345D,TTN:NM_001256850:exon31:c.C7173T:p.D2391D,TTN:NM_001267550:exon31:c.C7173T:p.D2391D,TTN:NM_133378:exon31:c.C7173T:p.D2391D,TTN:NM_133379:exon31:c.C7173T:p.D2391D Score=639;Name=lod=526 0.000231 219 63 0.223 328 0 0.000 1.18047474582527488e-23 0.587 --- 243,185,58,0.239 284,284,0,0.000 21.305 60 chr2 210560073 210560073 T C exonic MAP2 nonsynonymous SNV MAP2:NM_002374:exon7:c.T3179C:p.L1060P 0 0.982054 C 1.0 D 0.134 B 0.940408 N 0.006171 N 4.3 123 29 0.191 210 0 0.000 2.14345082496210265e-12 0.517 --- 137,109,27,0.199 182,181,0,0.000 10.630 15.955 chr3 10123095 10123095 A T exonic FANCD2 synonymous SNV FANCD2:NM_001018115:exon32:c.A3171T:p.I1057I,FANCD2:NM_033084:exon32:c.A3171T:p.I1057I 81 12 0.129 77 0 0.000 0.000554507880908464794 0.417 --- 81,70,11,0.136 67,67,0,0.000 2.979 9.495 chr3 35748524 35748524 C T exonic ARPP21 nonsynonymous SNV ARPP21:NM_001267619:exon9:c.C745T:p.R249W,ARPP21:NM_001267617:exon10:c.C745T:p.R249W,ARPP21:NM_016300:exon10:c.C745T:p.R249W Score=730;Name=lod=1238 0 0.999222 C 1.0 D 1.0 D 0.999998 D 0.997012 D 5.27 74 13 0.149 116 0 0.000 9.48916220075826938e-06 0.538 --- 73,63,10,0.137 89,89,0,0.000 3.619 9.152 chr3 54596945 54596945 T C exonic CACNA2D3 synonymous SNV CACNA2D3:NM_018398:exon6:c.T663C:p.F221F Score=599;Name=lod=364 64 12 0.158 90 0 0.000 5.09933919249080149e-05 0.167 --- 65,55,10,0.154 73,73,0,0.000 3.441 10.837 chr3 108698425 108698425 G A exonic MORC1 nonsynonymous SNV MORC1:NM_014429:exon24:c.C2414T:p.S805L ID=COSM394001;OCCURENCE=1(lung) 0.0082 0 0.103269 N 1.0 D 0.0 B 0.131503 N 0.206797 N -3.73 122 32 0.208 181 0 0.000 2.28100832099070071e-12 0.469 --- 130,104,26,0.200 145,145,0,0.000 9.095 60 chr3 151112469 151112469 C T exonic MED12L synonymous SNV MED12L:NM_053002:exon37:c.C5529T:p.G1843G Score=536;Name=lod=201 0.0005 rs183942480 155 31 0.167 259 0 0.000 3.71371616837038075e-13 0.613 --- 159,131,28,0.176 214,214,0,0.000 11.015 10.893 chr3 159998571 159998571 A G exonic IFT80 synonymous SNV IFT80:NM_001190242:exon14:c.T1137C:p.D379D,IFT80:NM_020800:exon15:c.T1548C:p.D516D,IFT80:NM_001190241:exon16:c.T1137C:p.D379D Score=469;Name=lod=107 58 21 0.266 119 0 0.000 6.72800749475517694e-10 0.429 --- 66,49,17,0.258 101,101,0,0.000 7.468 13.977 chr3 183014855 183014855 G A exonic MCF2L2 nonsynonymous SNV MCF2L2:NM_015078:exon12:c.C1406T:p.A469V Score=376;Name=lod=45 0 0.881976 N 0.99 D 0.0030 B 0.999869 D 0.001057 N 2.58 135 21 0.135 127 0 0.000 2.51230851463305456e-06 0.333 --- 131,112,19,0.145 102,102,0,0.000 4.950 11.072 chr3 186980383 186980383 A T exonic MASP1 nonsynonymous SNV MASP1:NM_001031849:exon3:c.T363A:p.D121E,MASP1:NM_001879:exon3:c.T363A:p.D121E,MASP1:NM_139125:exon3:c.T363A:p.D121E Score=546;Name=lod=220 0 0.929698 N 1.0 D 0.993 D 1.0 D 0.997959 D 1.84 107 27 0.201 152 0 0.000 2.74918905823380001e-10 0.444 --- 122,96,26,0.213 129,129,0,0.000 8.811 13.439 chr3 189582115 189582115 T C exonic TP63 nonsynonymous SNV TP63:NM_001114980:exon3:c.T392C:p.I131T,TP63:NM_001114981:exon3:c.T392C:p.I131T,TP63:NM_001114982:exon3:c.T392C:p.I131T,TP63:NM_001114978:exon5:c.T674C:p.I225T,TP63:NM_001114979:exon5:c.T674C:p.I225T,TP63:NM_003722:exon5:c.T674C:p.I225T Score=548;Name=lod=224 0.000077 0 0.998337 C 1.0 D 0.862 D 1.0 D 0.970886 D 5.5 232 51 0.180 304 0 0.000 5.33950411032476535e-18 0.549 --- 222,180,42,0.189 234,232,0,0.000 14.000 60 chr3 194081165 194081165 C T exonic LRRC15 nonsynonymous SNV LRRC15:NM_130830:exon2:c.G608A:p.R203Q,LRRC15:NM_001135057:exon3:c.G626A:p.R209Q Score=475;Name=lod=114 ID=COSM1213799,COSM1213800;OCCURENCE=1(large_intestine) 0.34 0.998521 C 0.67 T 1.0 D 0.999997 D 0.735339 NA 4.67 167 36 0.177 260 0 0.000 1.91218625789807347e-14 0.556 --- 185,151,34,0.184 225,225,0,0.000 12.544 10.547 chr4 123332414 123332414 A G exonic ADAD1 nonsynonymous SNV ADAD1:NM_001159285:exon8:c.A853G:p.N285D,ADAD1:NM_001159295:exon8:c.A832G:p.N278D,ADAD1:NM_139243:exon9:c.A886G:p.N296D Score=670;Name=lod=705 0.03 0.998642 C 0.947985 NA 0.993 D 0.999999 D 0.845098 D 5.2 106 19 0.152 147 0 0.000 1.73027784293217043e-07 0.579 --- 104,89,15,0.144 116,116,0,0.000 5.129 4.211 chr5 5186235 5186235 G T exonic ADAMTS16 nonsynonymous SNV ADAMTS16:NM_139056:exon5:c.G834T:p.K278N Score=352;Name=lod=36 0 0.946424 N 0.94 T 0.992 D 0.999999 D 0.998729 D 1.83 128 31 0.195 181 0 0.000 1.04687278902090438e-11 0.581 --- 126,102,24,0.190 153,153,0,0.000 8.860 13.482 chr5 60768565 60768565 T G exonic ZSWIM6 nonsynonymous SNV ZSWIM6:NM_020928:exon2:c.T734G:p.V245G Score=818;Name=lod=2815 0.28 135 35 0.206 153 0 0.000 4.97292262074506148e-11 0.657 --- 139,110,29,0.209 130,130,0,0.000 8.954 60 chr5 79616146 79616146 G A exonic SPZ1 nonsynonymous SNV SPZ1:NM_032567:exon1:c.G112A:p.E38K 0.21 0.946177 N 0.47 T 0.968 D 0.998689 N 0.059052 N 1.73 113 33 0.226 124 0 0.000 2.62135157828092657e-10 0.636 --- 126,98,28,0.222 107,107,0,0.000 8.056 60 chr5 112174152 112174152 T A exonic APC stopgain APC:NM_001127511:exon14:c.T2807A:p.L936X,APC:NM_000038:exon16:c.T2861A:p.L954X,APC:NM_001127510:exon17:c.T2861A:p.L954X Score=648;Name=lod=573 0.15 0.998205 C 0.90397 NA 0.732582 NA 0.984779 N 1.0 D 5.42 117 39 0.250 180 0 0.000 5.54593187197295584e-15 0.436 --- 142,104,38,0.268 156,156,0,0.000 13.532 60 chr5 140167365 140167365 G A exonic PCDHA1 nonsynonymous SNV PCDHA1:NM_018900:exon1:c.G1490A:p.R497Q,PCDHA1:NM_031410:exon1:c.G1490A:p.R497Q,PCDHA1:NM_031411:exon1:c.G1490A:p.R497Q 0.04 0.832131 N 0.83 T 0.417938 NA 0.841744 U 0.001607 N 0.145 760 93 0.109 792 0 0.000 2.49113359418448895e-28 0.441 --- 736,653,83,0.113 684,684,0,0.000 24.651 5.403 chr6 31239526 31239526 C A exonic HLA-C nonsynonymous SNV HLA-C:NM_001243042:exon2:c.G193T:p.A65S,HLA-C:NM_002117:exon2:c.G193T:p.A65S Score=0.8991;Name=chr6:31283726 0 0.757356 N 0.99 D 0.0010 B 0.045443 U 0.002132 NA -0.508 308 149 0.326 500 0 0.000 4.09863193283259537e-55 0.490 --- 378,257,121,0.320 423,422,1,0.002 42.834 60 chr6 161139389 161139389 G A exonic PLG nonsynonymous SNV PLG:NM_000301:exon8:c.G851A:p.R284H ID=COSM1131986;OCCURENCE=1(prostate) 0 0.961543 C 0.99 D 0.998 D 0.957055 U 0.997387 D 3.14 63 26 0.292 93 0 0.000 9.39977296082731544e-10 0.577 --- 72,53,19,0.264 74,74,0,0.000 6.435 60 chr7 25218849 25218849 T A exonic C7orf31 nonsynonymous SNV C7orf31:NM_138811:exon2:c.A79T:p.N27Y Score=259;Name=lod=15 0 0.997661 C 0.99 D 0.991 D 0.999927 D 0.937684 D 4.81 141 35 0.199 189 0 0.000 1.1728867292052081e-12 0.429 --- 148,115,33,0.223 144,144,0,0.000 10.466 60 chr7 94038686 94038686 G A exonic COL1A2 nonsynonymous SNV COL1A2:NM_000089:exon17:c.G845A:p.R282H Score=525;Name=lod=181 0.999771 C 0.99 D 0.783335 NA 1.0 D 0.999109 D 5.3 130 16 0.110 172 0 0.000 2.4385066636500854e-06 0.688 --- 123,109,14,0.114 147,147,0,0.000 4.965 6.871 chr7 128394340 128394340 C T exonic CALU synonymous SNV CALU:NM_001199673:exon3:c.C246T:p.G82G,CALU:NM_001219:exon3:c.C246T:p.G82G,CALU:NM_001199671:exon4:c.C270T:p.G90G Score=761;Name=lod=1652 94 22 0.190 87 0 0.000 2.79851175168966151e-06 0.818 --- 95,76,19,0.200 74,74,0,0.000 5.071 13.019 chr8 39679180 39679180 T A exonic ADAM2 nonsynonymous SNV ADAM2:NM_001464:exon5:c.A269T:p.N90I Score=450;Name=lod=90 0.02 0.967494 C 0.95 T 0.997 D 0.945689 NA 0.501227 D 3.51 65 15 0.188 79 0 0.000 2.96247845816331257e-05 0.333 --- 68,54,14,0.206 64,64,0,0.000 4.204 9.952 chr8 92998413 92998413 G A exonic RUNX1T1 synonymous SNV RUNX1T1:NM_175636:exon7:c.C1107T:p.G369G,RUNX1T1:NM_001198633:exon8:c.C1158T:p.G386G,RUNX1T1:NM_001198634:exon8:c.C1251T:p.G417G,RUNX1T1:NM_004349:exon8:c.C1137T:p.G379G,RUNX1T1:NM_175635:exon8:c.C1107T:p.G369G,RUNX1T1:NM_001198628:exon9:c.C1218T:p.G406G,RUNX1T1:NM_001198629:exon9:c.C1218T:p.G406G,RUNX1T1:NM_001198631:exon9:c.C1218T:p.G406G,RUNX1T1:NM_001198632:exon9:c.C1137T:p.G379G,RUNX1T1:NM_001198679:exon9:c.C1395T:p.G465G,RUNX1T1:NM_175634:exon9:c.C1218T:p.G406G,RUNX1T1:NM_001198626:exon10:c.C1218T:p.G406G,RUNX1T1:NM_001198630:exon10:c.C1218T:p.G406G,RUNX1T1:NM_001198627:exon11:c.C1218T:p.G406G,RUNX1T1:NM_001198625:exon12:c.C1137T:p.G379G Score=582;Name=lod=308 ID=COSM1458613,COSM1458612,COSM1458611;OCCURENCE=1(large_intestine) 110 21 0.160 112 0 0.000 1.91386079342766916e-06 0.524 --- 113,97,16,0.142 88,88,0,0.000 4.094 8.874 chr8 110464494 110464494 C T exonic PKHD1L1 synonymous SNV PKHD1L1:NM_177531:exon42:c.C6492T:p.V2164V 172 30 0.149 177 0 0.000 3.34168490260375361e-09 0.400 --- 179,154,24,0.135 150,150,0,0.000 6.551 12.747 chr8 144997225 144997225 G A exonic PLEC nonsynonymous SNV PLEC:NM_201378:exon31:c.C6830T:p.A2277V,PLEC:NM_201379:exon31:c.C6806T:p.A2269V,PLEC:NM_201380:exon31:c.C7283T:p.A2428V,PLEC:NM_201381:exon31:c.C6776T:p.A2259V,PLEC:NM_201382:exon31:c.C6872T:p.A2291V,PLEC:NM_201383:exon31:c.C6884T:p.A2295V,PLEC:NM_201384:exon31:c.C6872T:p.A2291V,PLEC:NM_000445:exon32:c.C6953T:p.A2318V Score=304;Name=lod=23 0.01 0.999345 C 0.78 T 0.834 P 0.999996 U 0.306133 N 4.83 210 56 0.211 205 0 0.000 9.04161741151211803e-16 0.607 --- 234,186,48,0.205 181,181,0,0.000 12.935 15.109 chr9 17793416 17793416 A T exonic SH3GL2 synonymous SNV SH3GL2:NM_003026:exon8:c.A780T:p.R260R Score=449;Name=lod=89 69 26 0.274 116 0 0.000 1.11452388466963948e-10 0.577 --- 74,54,20,0.270 96,96,0,0.000 7.948 13.981 chr9 18776886 18776886 G A exonic ADAMTSL1 nonsynonymous SNV ADAMTSL1:NM_001040272:exon19:c.G2659A:p.A887T Score=473;Name=lod=112 0 244 42 0.147 387 0 0.000 3.82324700464228073e-17 0.595 --- 242,207,35,0.145 323,323,0,0.000 13.544 9.402 chr9 34726648 34726648 A T exonic FAM205A nonsynonymous SNV FAM205A:NM_001141917:exon4:c.T589A:p.Y197N Score=0.912588;Name=chr9:34832014 221 33 0.130 235 0 0.000 1.49604004963226249e-10 0.576 --- 224,192,32,0.143 212,212,0,0.000 9.699 8.317 chr9 36063835 36063835 T C exonic RECK synonymous SNV RECK:NM_021111:exon5:c.T315C:p.C105C Score=620;Name=lod=443 108 14 0.115 169 0 0.000 3.2801918470853851e-06 0.500 --- 102,91,11,0.108 142,142,0,0.000 4.310 8.825 chr10 12240729 12240729 G A exonic CDC123 nonsynonymous SNV CDC123:NM_006023:exon2:c.G100A:p.V34M Score=550;Name=lod=229 0.04 0.999758 C 0.9 T 0.413 P 1.0 D 0.995814 D 5.57 42 9 0.176 43 0 0.000 0.00339034632778424321 0.556 --- 36,30,6,0.167 36,36,0,0.000 1.603 5.321 chr10 48429020 48429020 C T exonic GDF10 nonsynonymous SNV GDF10:NM_004962:exon2:c.G866A:p.R289H Score=355;Name=lod=37 0.07 0.928884 N 0.88 T 0.996 D 1.0 D 0.986694 D 3.17 131 39 0.229 214 0 0.000 1.02672602356008389e-15 0.487 --- 153,117,36,0.235 187,187,0,0.000 13.595 11.761 chr10 122648665 122648665 A T exonic WDR11 nonsynonymous SNV WDR11:NM_018117:exon17:c.A2197T:p.N733Y Score=677;Name=lod=751 0.05 0.99896 C 0.72 T 0.992 D 1.0 D 0.827911 D 5.46 93 15 0.139 110 0 0.000 1.57028998875201083e-05 0.533 --- 79,68,11,0.139 86,85,0,0.000 3.657 10.413 chr10 134912223 134912223 G A exonic GPR123 nonsynonymous SNV GPR123:NM_001083909:exon4:c.G211A:p.A71T Score=321;Name=lod=27 0.03 0.998712 C 0.761306 NA 0.184 P 0.999973 D 0.559665 NA 3.99 186 21 0.101 223 0 0.000 1.23649302121769976e-07 0.524 --- 159,143,16,0.101 178,178,0,0.000 5.402 7.23 chr11 379434 379434 C T exonic B4GALNT4 nonsynonymous SNV B4GALNT4:NM_178537:exon15:c.C2221T:p.R741C Score=548;Name=lod=226 0 0.996293 C 0.99 D 0.595668 NA 0.998198 N 0.177042 N 3.06 147 38 0.205 177 0 0.000 1.20975744628638735e-12 0.658 --- 156,121,35,0.224 148,148,0,0.000 11.000 7.778 chr11 5173176 5173176 G T exonic OR52A1 nonsynonymous SNV OR52A1:NM_012375:exon1:c.C424A:p.L142I 0.31 0.87148 N 0.68 T 0.153 P 0.999527 D 0.008749 N 0.287 165 48 0.225 191 0 0.000 3.16291084562515241e-15 0.458 --- 189,146,43,0.228 169,167,2,0.012 10.522 60 chr11 10536606 10536606 G A exonic RNF141 stopgain RNF141:NM_016422:exon6:c.C550T:p.R184X Score=695;Name=lod=892 0.68 0.999676 C 0.903842 NA 0.735506 NA 0.999997 D 1.0 D 5.35 103 21 0.169 195 0 0.000 7.84742411502437772e-10 0.238 --- 109,89,20,0.183 159,158,0,0.000 8.272 13.354 chr11 66291221 66291221 G A exonic BBS1 nonsynonymous SNV BBS1:NM_024649:exon11:c.G978A:p.M326I Score=366;Name=lod=41 ID=COSM1246003;OCCURENCE=1(oesophagus) 0.03 0.999599 C 0.95 T 0.923 D 0.987701 NA 0.758581 NA 5.18 209 41 0.164 232 0 0.000 3.78188292019094905e-13 0.561 --- 229,190,39,0.170 191,191,0,0.000 10.746 7.237 chr12 8083846 8083846 C T exonic SLC2A3 nonsynonymous SNV SLC2A3:NM_006931:exon4:c.G505A:p.A169T Score=444;Name=lod=85 0 0.998282 C 1.0 D 0.035 B 1.0 D 0.996511 D 4.32 251 47 0.158 231 0 0.000 3.88831213504255356e-13 0.766 --- 260,220,40,0.154 196,196,0,0.000 10.295 11.273 chr12 25398284 25398284 C G exonic KRAS nonsynonymous SNV KRAS:NM_004985:exon2:c.G35C:p.G12A,KRAS:NM_033360:exon2:c.G35C:p.G12A Score=706;Name=lod=982 ID=COSM522,COSM1140134;OCCURENCE=34(ovary),1(bone),1(breast),33(haematopoietic_and_lymphoid_tissue),21(stomach),3(soft_tissue),5(urinary_tract),71(pancreas),1(liver),1(oesophagus),1(autonomic_ganglia),1(gastrointestinal_tract_(site_indeterminate)),2(prostate),229(lung),3(cervix),6(thyroid),3(upper_aerodigestive_tract),1(testis),1(thymus),967(large_intestine),5(central_nervous_system),6(small_intestine),26(biliary_tract),53(endometrium) 0.0082 rs121913529 0.03 0.998873 C 0.97 D 0.585 P 1.0 D 0.999975 D 5.24 120 32 0.211 149 0 0.000 7.82026614695518135e-11 0.531 --- 127,101,26,0.205 116,115,0,0.000 7.846 60 chr12 119594593 119594593 C T exonic SRRM4 nonsynonymous SNV SRRM4:NM_194286:exon13:c.C1826T:p.T609M Score=361;Name=lod=39 0 137 40 0.226 199 0 0.000 5.90298638164734759e-15 0.475 --- 147,110,37,0.252 174,174,0,0.000 13.767 8.569 chr13 37619498 37619498 T A exonic SUPT20H nonsynonymous SNV SUPT20H:NM_001014286:exon6:c.A178T:p.N60Y,SUPT20H:NM_017569:exon6:c.A181T:p.N61Y Score=617;Name=lod=429 0 0.998419 C 0.99 D 0.998 D 1.0 D 0.999461 D 5.56 85 26 0.234 124 0 0.000 5.91941500429749754e-10 0.308 --- 95,72,23,0.242 110,109,0,0.000 8.335 60 chr13 49913843 49913843 C T exonic CAB39L synonymous SNV CAB39L:NM_030925:exon7:c.G660A:p.E220E,CAB39L:NM_001079670:exon9:c.G660A:p.E220E Score=615;Name=lod=420 34 8 0.190 45 0 0.000 0.00201990407342216958 0.625 --- 34,27,7,0.206 31,31,0,0.000 1.939 5.704 chr13 52971824 52971824 T C exonic THSD1 nonsynonymous SNV THSD1:NM_018676:exon3:c.A564G:p.I188M,THSD1:NM_199263:exon3:c.A564G:p.I188M 0.01 0.870887 N 0.99 D 0.73 P 0.999595 D 0.600126 D -0.331 179 44 0.197 181 0 0.000 5.738263982598526e-13 0.364 --- 190,151,38,0.201 153,153,0,0.000 10.508 11.891 chr14 76368504 76368504 C A exonic TTLL5 nonsynonymous SNV TTLL5:NM_015072:exon31:c.C3760A:p.Q1254K Score=457;Name=lod=96 0 0.99866 C 1.0 D 0.99 D 0.445429 N 0.017313 N 5.08 65 8 0.110 100 0 0.000 0.000796064687659488456 0.750 --- 63,55,8,0.127 79,79,0,0.000 2.938 5.788 chr14 94395253 94395253 G A exonic FAM181A nonsynonymous SNV FAM181A:NM_001207071:exon2:c.G622A:p.V208I,FAM181A:NM_001207072:exon2:c.G622A:p.V208I,FAM181A:NM_001207073:exon2:c.G622A:p.V208I,FAM181A:NM_001207074:exon2:c.G622A:p.V208I,FAM181A:NM_138344:exon3:c.G808A:p.V270I 0.000154 ID=COSM1516218;OCCURENCE=1(lung) 0.09 0.805029 N 0.82 T 0.092 B 0.360084 N 0.002502 N -1.61 244 82 0.252 337 0 0.000 1.38962995222688383e-28 0.524 --- 274,203,71,0.259 291,290,0,0.000 24.590 60 chr15 41814345 41814345 C T exonic RPAP1 nonsynonymous SNV RPAP1:NM_015540:exon20:c.G2846A:p.R949H Score=529;Name=lod=189 0.27 0.981551 C 0.97 D 0.02 B 0.999953 N 0.023043 N 3.53 109 27 0.199 152 0 0.000 3.52019321081346585e-10 0.593 --- 116,90,26,0.224 124,124,0,0.000 8.917 7.953 chr15 45409436 45409436 G A exonic DUOXA2 synonymous SNV DUOXA2:NM_207581:exon5:c.G702A:p.P234P 296 39 0.116 279 0 0.000 3.24118882489531439e-11 0.410 --- 270,239,31,0.115 233,233,0,0.000 8.622 8.777 chr15 50769653 50769653 C T exonic USP8 nonsynonymous SNV USP8:NM_001128610:exon10:c.C1175T:p.S392L,USP8:NM_005154:exon10:c.C1175T:p.S392L,USP8:NM_001128611:exon11:c.C1175T:p.S392L Score=381;Name=lod=47 0.13 0.972962 C 0.94 T 0.0 B 0.697666 N 0.481465 N 3.96 135 28 0.172 126 0 0.000 4.85723456292456956e-08 0.357 --- 135,112,22,0.164 112,112,0,0.000 6.018 7.342 chr15 78473197 78473197 G A exonic ACSBG1 nonsynonymous SNV ACSBG1:NM_001199377:exon9:c.C1141T:p.R381C,ACSBG1:NM_015162:exon9:c.C1153T:p.R385C 0 0.864802 N 0.98 D 0.919 D 0.880986 N 0.812552 D -1.14 178 56 0.239 242 0 0.000 1.19597822101400056e-19 0.464 --- 188,141,47,0.250 198,197,0,0.000 16.093 60 chr15 83331949 83331949 G T exonic AP3B2 nonsynonymous SNV AP3B2:NM_004644:exon21:c.C2477A:p.A826E 0.0014 rs200148581 0.27 80 26 0.245 116 0 0.000 7.26143689277600489e-10 0.308 --- 85,62,23,0.271 87,87,0,0.000 7.797 5.31 chr16 3018016 3018016 C T exonic KREMEN2 nonsynonymous SNV KREMEN2:NM_001253726:exon9:c.C1267T:p.L423F,KREMEN2:NM_172229:exon9:c.C1384T:p.L462F Score=407;Name=lod=60 0 0.9601 C 1.0 D 0.619821 NA 0.998941 U 0.277241 N 3.18 108 15 0.122 135 0 0.000 9.29405450605003958e-06 0.200 --- 106,92,14,0.132 115,115,0,0.000 4.674 4.032 chr16 12798513 12798513 C T exonic CPPED1 nonsynonymous SNV CPPED1:NM_018340:exon3:c.G683A:p.R228Q 0 0.05636 N 1.0 D 1.0 D 1.0 D 0.999313 D 4.97 166 27 0.140 164 0 0.000 3.33006528379341705e-08 0.519 --- 173,148,25,0.145 146,145,0,0.000 6.864 14.135 chr16 49670321 49670321 G A exonic ZNF423 synonymous SNV ZNF423:NM_001271620:exon4:c.C2562T:p.G854G,ZNF423:NM_015069:exon4:c.C2742T:p.G914G Score=448;Name=lod=88 227 42 0.156 264 0 0.000 8.58473013149920408e-14 0.548 --- 239,201,38,0.159 231,231,0,0.000 11.748 60 chr16 67333464 67333464 G A exonic KCTD19 nonsynonymous SNV KCTD19:NM_001100915:exon6:c.C788T:p.P263L Score=457;Name=lod=96 0.000083 0.988225 C 0.98 D 0.0 B 0.995637 N 5.0E-5 N 4.42 120 31 0.205 145 0 0.000 2.00767926347286594e-10 0.323 --- 133,106,27,0.203 128,128,0,0.000 8.412 60 chr17 7577120 7577120 C T exonic TP53 nonsynonymous SNV TP53:NM_001126115:exon4:c.G422A:p.R141H,TP53:NM_001126116:exon4:c.G422A:p.R141H,TP53:NM_001126117:exon4:c.G422A:p.R141H,TP53:NM_001276697:exon4:c.G341A:p.R114H,TP53:NM_001276698:exon4:c.G341A:p.R114H,TP53:NM_001276699:exon4:c.G341A:p.R114H,TP53:NM_001126118:exon7:c.G701A:p.R234H,TP53:NM_000546:exon8:c.G818A:p.R273H,TP53:NM_001126112:exon8:c.G818A:p.R273H,TP53:NM_001126113:exon8:c.G818A:p.R273H,TP53:NM_001126114:exon8:c.G818A:p.R273H,TP53:NM_001276695:exon8:c.G701A:p.R234H,TP53:NM_001276696:exon8:c.G701A:p.R234H,TP53:NM_001276760:exon8:c.G701A:p.R234H,TP53:NM_001276761:exon8:c.G701A:p.R234H Score=259;Name=lod=15 0.0005 ID=COSM10660,COSM99729;OCCURENCE=1(vulva),50(ovary),5(bone),62(breast),1(NS),4(penis),22(stomach),29(haematopoietic_and_lymphoid_tissue),1(soft_tissue),15(urinary_tract),16(pancreas),4(liver),2(genital_tract),28(oesophagus),8(skin),43(lung),1(cervix),1(thyroid),42(upper_aerodigestive_tract),1(thymus),125(large_intestine),42(central_nervous_system),6(biliary_tract),1(fallopian_tube),8(endometrium) 0.090 rs28934576 0.01 0.998682 C 0.99 D 0.415 P 1.0 D 0.999999 D 4.57 90 28 0.237 106 0 0.000 2.95365332320426472e-09 0.321 --- 98,75,23,0.235 100,100,0,0.000 7.666 11.463 chr17 34955463 34955463 C G exonic DHRS11 nonsynonymous SNV DHRS11:NM_024308:exon4:c.C566G:p.T189S Score=592;Name=lod=340 0.96 0.165947 N 0.04 T 0.01 B 0.999752 N 0.968745 D -2.12 193 56 0.225 303 0 0.000 9.58682873280653672e-22 0.464 --- 211,162,49,0.232 236,235,0,0.000 17.369 15.0 chr17 48276626 48276626 G A exonic COL1A1 synonymous SNV COL1A1:NM_000088:exon5:c.C432T:p.P144P Score=574;Name=lod=287 120 30 0.200 139 0 0.000 6.52109705750064669e-10 0.667 --- 139,107,30,0.219 119,119,0,0.000 8.726 4.917 chr17 74471141 74471141 C T exonic RHBDF2 nonsynonymous SNV RHBDF2:NM_001005498:exon9:c.G1198A:p.G400S,RHBDF2:NM_024599:exon10:c.G1285A:p.G429S Score=469;Name=lod=107 0.01 0.997822 C 0.99 D 0.991 D 1.0 D 0.999952 D 4.64 83 20 0.194 84 0 0.000 3.52738684065835999e-06 0.500 --- 91,72,19,0.209 69,69,0,0.000 5.014 12.755 chr17 77075603 77075603 A G exonic ENGASE nonsynonymous SNV ENGASE:NM_001042573:exon4:c.A449G:p.Y150C Score=321;Name=lod=27 0 0.998574 C 1.0 D 1.0 D 1.0 D 0.99856 D 5.17 137 18 0.116 138 0 0.000 7.12236832150412109e-06 0.500 --- 134,115,17,0.129 126,125,0,0.000 5.014 6.628 chr18 8806957 8806957 C T exonic SOGA2 nonsynonymous SNV SOGA2:NM_015210:exon11:c.C2503T:p.R835W Score=425;Name=lod=71 0.000077 0.935736 N 1.0 D 0.999 D 0.760289 N 0.9796 D 2.67 100 22 0.180 171 0 0.000 1.27215468376712733e-09 0.545 --- 102,80,22,0.216 133,132,0,0.000 8.552 11.541 chr18 33558926 33558926 T G exonic C18orf21 nonsynonymous SNV C18orf21:NM_001201474:exon4:c.T356G:p.F119C,C18orf21:NM_001201475:exon4:c.T356G:p.F119C,C18orf21:NM_031446:exon5:c.T620G:p.F207C Score=433;Name=lod=77 0 0.998193 C 1.0 D 0.984 D 0.99998 D 0.29126 N 5.41 91 30 0.248 147 0 0.000 4.62876972330295112e-12 0.533 --- 99,72,27,0.273 120,120,0,0.000 10.283 9.9 chr18 61569081 61569081 A T exonic SERPINB2 stopgain SERPINB2:NM_002575:exon6:c.A643T:p.K215X,SERPINB2:NM_001143818:exon7:c.A643T:p.K215X Score=289;Name=lod=20 0.998938 C 0.864196 NA 0.638872 NA 0.991645 N 0.679374 NA 5.44 70 18 0.205 136 0 0.000 1.54922294400799613e-08 0.444 --- 73,58,15,0.205 112,112,0,0.000 6.475 12.771 chr18 65180236 65180236 G T exonic DSEL nonsynonymous SNV DSEL:NM_032160:exon2:c.C1640A:p.A547D Score=480;Name=lod=119 0.44 0.99962 C 0.56 T 0.326509 NA 0.991634 U 0.050883 N 5.24 131 33 0.201 218 0 0.000 9.97335783853399001e-14 0.545 --- 137,109,28,0.204 191,191,0,0.000 11.389 14.875 chr18 67776744 67776744 C A exonic RTTN nonsynonymous SNV RTTN:NM_173630:exon28:c.G3893T:p.G1298V Score=448;Name=lod=88 0.03 0.997233 C 0.87 T 0.955 D 0.999999 D 0.998559 D 4.41 79 27 0.255 129 0 0.000 5.7989313873760189e-11 0.815 --- 94,68,26,0.277 111,111,0,0.000 9.745 7.665 chr19 1009292 1009292 C T exonic GRIN3B synonymous SNV GRIN3B:NM_138690:exon9:c.C2823T:p.A941A 223 52 0.189 246 0 0.000 3.33377318932907846e-16 0.615 --- 233,187,46,0.197 214,213,0,0.000 13.780 5.469 chr19 4683274 4683274 G A exonic LOC100131094 nonsynonymous SNV LOC100131094:NM_001242901:exon2:c.G404A:p.R135Q Score=622;Name=lod=451 337 91 0.213 434 0 0.000 9.68236594150742919e-31 0.429 --- 366,282,84,0.230 384,384,0,0.000 28.567 8.044 chr19 22271062 22271062 G T exonic ZNF257 nonsynonymous SNV ZNF257:NM_033468:exon4:c.G510T:p.K170N 0.13 133 35 0.208 147 0 0.000 5.57321804906069231e-11 0.571 --- 148,117,31,0.209 126,126,0,0.000 8.926 13.717 chr19 49254020 49254020 G A exonic FUT1 synonymous SNV FUT1:NM_000148:exon4:c.C519T:p.F173F Score=433;Name=lod=77 188 29 0.134 208 0 0.000 1.62527857682164087e-09 0.379 --- 195,167,28,0.144 181,181,0,0.000 8.378 12.986 chr19 52327161 52327161 C T exonic FPR3 nonsynonymous SNV FPR3:NM_002030:exon2:c.C160T:p.R54W Score=578;Name=lod=298 0 0.81466 N 1.0 D 0.999 D 0.97354 N 0.001676 N 1.04 249 39 0.135 263 0 0.000 2.806909078175513e-12 0.487 --- 247,211,34,0.139 218,218,0,0.000 9.689 10.348 chr19 55378096 55378096 C T exonic KIR3DL2 synonymous SNV KIR3DL2:NM_001242867:exon8:c.C1227T:p.S409S,KIR3DL2:NM_006737:exon9:c.C1278T:p.S426S Score=0.905203;Name=chr19_gl000209_random:60657 176 38 0.178 178 1 0.006 4.86509398520449505e-10 0.368 1.000 191,155,36,0.188 154,153,1,0.006 8.628 60 chr20 43850375 43850375 C A exonic SEMG2 nonsynonymous SNV SEMG2:NM_003008:exon2:c.C102A:p.S34R 0.01 0.102087 N 0.99 D 0.378935 NA 0.605787 NA 0.015187 N 0.2 93 29 0.238 124 0 0.000 2.18946968918377632e-10 0.690 --- 108,82,26,0.241 110,110,0,0.000 8.681 10.014 chr20 44987058 44987058 C A exonic SLC35C2 nonsynonymous SNV SLC35C2:NM_015945:exon2:c.G88T:p.G30C,SLC35C2:NM_173073:exon2:c.G88T:p.G30C,SLC35C2:NM_173179:exon2:c.G88T:p.G30C Score=601;Name=lod=369 0.06 0.998841 C 0.92 T 0.0070 B 1.0 D 0.999407 D 4.69 141 17 0.108 173 0 0.000 2.15782652183881795e-06 0.824 --- 138,122,16,0.116 154,154,0,0.000 5.419 5.882 chr21 47423553 47423553 G A exonic COL6A1 nonsynonymous SNV COL6A1:NM_001848:exon35:c.G2713A:p.D905N Score=251;Name=lod=14 0.000077 rs149331149 0.05 0.998948 C 0.97 D 0.770923 NA 0.999725 D 0.994206 D 4.47 240 66 0.216 325 0 0.000 3.14517372848327034e-23 0.485 --- 269,209,60,0.223 286,284,0,0.000 20.431 11.431 chr22 22058149 22058149 C T exonic YPEL1 nonsynonymous SNV YPEL1:NM_013313:exon3:c.G140A:p.R47H Score=576;Name=lod=293 0 0.975736 C 1.0 D 0.899 D 1.0 D 0.999826 D 2.68 98 16 0.140 91 0 0.000 7.61044676808166451e-05 0.625 --- 103,89,14,0.136 79,79,0,0.000 3.490 9.9 chr22 24181107 24181107 G A exonic DERL3 nonsynonymous SNV DERL3:NM_001002862:exon1:c.C68T:p.A23V,DERL3:NM_001135751:exon1:c.C68T:p.A23V,DERL3:NM_198440:exon1:c.C68T:p.A23V Score=512;Name=lod=160 0 0.999539 C 0.56 T 0.013 B 0.999999 D 0.998568 D 4.02 132 34 0.205 162 0 0.000 1.90783519444504063e-11 0.471 --- 137,106,31,0.226 136,136,0,0.000 9.862 10.446 chr22 51043217 51043217 C T exonic MAPK8IP2 unknown UNKNOWN 0.02 143 43 0.231 188 0 0.000 5.70113986066349492e-15 0.605 --- 171,133,38,0.222 161,161,0,0.000 11.894 12.281 chrX 17819909 17819909 C T exonic RAI2 synonymous SNV RAI2:NM_021785:exon2:c.G222A:p.A74A,RAI2:NM_001172739:exon3:c.G222A:p.A74A,RAI2:NM_001172743:exon3:c.G222A:p.A74A 0.003787 0.0012 rs144116867 238 29 0.109 285 0 0.000 3.1076990345625318e-10 0.379 --- 227,204,23,0.101 255,255,0,0.000 7.791 10.285 chrX 22292068 22292068 C T exonic ZNF645 synonymous SNV ZNF645:NM_152577:exon1:c.C960T:p.Y320Y ID=COSM177520;OCCURENCE=1(large_intestine) 138 50 0.266 217 0 0.000 3.87803348593977942e-19 0.380 --- 170,129,41,0.241 190,190,0,0.000 14.616 15.955 chrX 24906154 24906154 G A exonic POLA1 nonsynonymous SNV POLA1:NM_016937:exon35:c.G4061A:p.R1354H Score=555;Name=lod=240 ID=COSM1467331;OCCURENCE=1(large_intestine) 0.12 0.893593 N 0.87 T 0.0010 B 0.995434 N 0.124383 N 0.119 41 9 0.180 60 0 0.000 0.00053957687831672965 0.667 --- 44,36,7,0.163 47,47,0,0.000 2.365 5.926 chrX 135290633 135290633 T C exonic FHL1 nonsynonymous SNV FHL1:NM_001159699:exon5:c.T569C:p.I190T,FHL1:NM_001159701:exon5:c.T608C:p.I203T,FHL1:NM_001159704:exon5:c.T521C:p.I174T,FHL1:NM_001159700:exon6:c.T521C:p.I174T,FHL1:NM_001159702:exon6:c.T521C:p.I174T,FHL1:NM_001167819:exon6:c.T521C:p.I174T,FHL1:NM_001449:exon6:c.T521C:p.I174T Score=733;Name=lod=1273 0 0.994312 C 1.0 D 0.418 P 0.999994 D 0.895277 D 4.19 118 17 0.126 177 0 0.000 3.55853235419067934e-07 0.765 --- 118,102,16,0.136 143,142,0,0.000 5.747 7.076 chrX 142596802 142596802 C A exonic SPANXN3 nonsynonymous SNV SPANXN3:NM_001009609:exon2:c.G268T:p.D90Y Score=0.919792;Name=chrX:144328223 0.01 0.047421 N 0.99 D 0.748 P 0.607604 NA 8.93E-4 N -1.62 114 37 0.245 219 0 0.000 2.06894155826227418e-16 0.595 --- 134,98,36,0.269 185,185,0,0.000 14.920 14.116