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 35223213 35223213 C T exonic GJB5 synonymous SNV GJB5:NM_005268:exon2:c.C282T:p.H94H Score=534;Name=lod=198 77 59 0.434 246 0 0.000 1.29605328162802018e-31 0.492 --- 111,65,46,0.414 204,204,0,0.000 24.091 60 chr1 75038108 75038108 G T exonic C1orf173 nonsynonymous SNV C1orf173:NM_001002912:exon14:c.C3286A:p.Q1096K 0 0.982462 C 1.0 D 0.02 B 0.825916 NA 4.3E-5 N 2.31 184 82 0.308 248 0 0.000 3.0342353049261239e-27 0.488 --- 231,160,71,0.307 202,201,1,0.005 20.095 60 chr2 26951175 26951175 C T exonic KCNK3 synonymous SNV KCNK3:NM_002246:exon2:c.C924T:p.S308S Score=742;Name=lod=1378 185 79 0.299 229 0 0.000 9.41704798033742697e-25 0.380 --- 232,162,70,0.302 199,199,0,0.000 21.072 60 chr2 44429044 44429044 G A exonic PPM1B nonsynonymous SNV PPM1B:NM_001033556:exon2:c.G706A:p.E236K,PPM1B:NM_001033557:exon2:c.G706A:p.E236K,PPM1B:NM_002706:exon2:c.G706A:p.E236K,PPM1B:NM_177968:exon2:c.G706A:p.E236K Score=720;Name=lod=1121 0 0.999667 C 1.0 D 0.849 P 0.999998 D 0.999666 D 5.33 168 71 0.297 208 0 0.000 1.69810088345808897e-22 0.521 --- 205,142,63,0.307 172,172,0,0.000 18.783 60 chr2 99977644 99977644 A G exonic EIF5B nonsynonymous SNV EIF5B:NM_015904:exon4:c.A280G:p.K94E Score=575;Name=lod=289 0.02 0.998709 C 1.0 D 0.537433 NA 0.858099 NA 0.009251 N 5.26 114 55 0.325 177 0 0.000 3.51597245627482238e-20 0.764 --- 144,96,48,0.333 148,148,0,0.000 16.814 13.476 chr2 175614763 175614763 C T exonic CHRNA1 nonsynonymous SNV CHRNA1:NM_000079:exon7:c.G913A:p.V305I,CHRNA1:NM_001039523:exon8:c.G988A:p.V330I Score=559;Name=lod=249 ID=COSM1201111;OCCURENCE=1(large_intestine) rs137852804 0 0.998415 C 0.99 D 0.974 D 0.999995 D 0.997265 D 4.93 162 20 0.110 182 0 0.000 5.49223107268673002e-07 0.450 --- 146,131,15,0.103 144,144,0,0.000 4.378 9.807 chr2 197298070 197298070 C A exonic HECW2 nonsynonymous SNV HECW2:NM_020760:exon2:c.G78T:p.E26D Score=470;Name=lod=108 0.49 0.999088 C 0.67 T 0.075 B 0.999348 N 0.152361 N 4.92 149 50 0.251 218 0 0.000 2.17654711656614335e-18 0.380 --- 153,113,40,0.261 175,175,0,0.000 14.604 60 chr2 202151236 202151236 G A exonic CASP8 synonymous SNV CASP8:NM_033356:exon8:c.G1314A:p.K438K,CASP8:NM_001080124:exon9:c.G1314A:p.K438K,CASP8:NM_001080125:exon9:c.G1536A:p.K512K,CASP8:NM_001228:exon10:c.G1410A:p.K470K,CASP8:NM_033355:exon10:c.G1359A:p.K453K 68 49 0.419 104 0 0.000 7.12434608925776277e-17 0.469 --- 90,53,37,0.411 83,83,0,0.000 12.454 60 chr3 2967417 2967417 G T exonic CNTN4 nonsynonymous SNV CNTN4:NM_001206956:exon4:c.G328T:p.V110F,CNTN4:NM_175613:exon4:c.G328T:p.V110F,CNTN4:NM_001206955:exon12:c.G1312T:p.V438F,CNTN4:NM_175607:exon13:c.G1312T:p.V438F Score=441;Name=lod=83 0.33 0.991371 C 0.9 T 0.067 B 0.913657 N 0.619201 D 3.81 103 38 0.270 141 0 0.000 4.05738679048900318e-13 0.447 --- 107,78,28,0.264 111,110,1,0.009 8.338 15.256 chr3 9102014 9102014 C T exonic SRGAP3 synonymous SNV SRGAP3:NM_001033117:exon6:c.G702A:p.L234L,SRGAP3:NM_014850:exon6:c.G702A:p.L234L Score=494;Name=lod=136 135 70 0.341 214 0 0.000 1.27005546648454724e-25 0.386 --- 181,122,58,0.322 190,189,0,0.000 20.524 60 chr3 38040932 38040932 T C splicing VILL NM_015873:exon10:c.1182+2T>C Score=454;Name=lod=93 89 39 0.305 111 0 0.000 1.17986740963974146e-12 0.385 --- 97,69,28,0.289 83,83,0,0.000 8.330 60 chr3 38307611 38307611 G A exonic SLC22A13 nonsynonymous SNV SLC22A13:NM_004256:exon1:c.G260A:p.R87Q Score=426;Name=lod=72 0.15 0.845129 N 0.46 T 0.065 B 0.984518 N 0.092594 N -0.456 189 39 0.171 201 0 0.000 4.62385757779009014e-12 0.538 --- 197,162,35,0.178 169,169,0,0.000 10.026 15.654 chr3 121202299 121202299 G A exonic POLQ synonymous SNV POLQ:NM_199420:exon18:c.C5904T:p.I1968I Score=596;Name=lod=352 ID=COSM1262701;OCCURENCE=1(oesophagus) 79 29 0.269 84 0 0.000 1.06105682574637512e-08 0.655 --- 88,64,24,0.273 70,70,0,0.000 6.775 60 chr3 154146834 154146834 C T exonic GPR149 nonsynonymous SNV GPR149:NM_001038705:exon1:c.G571A:p.V191I Score=441;Name=lod=83 0.97 0.998639 C 0.0 T 0.194 P 0.99893 N 0.021339 N 4.73 144 54 0.273 246 0 0.000 1.13136236976346663e-21 0.574 --- 171,124,47,0.275 206,206,0,0.000 17.872 60 chr3 184870463 184870463 C A exonic C3orf70 nonsynonymous SNV C3orf70:NM_001025266:exon1:c.G149T:p.G50V Score=705;Name=lod=974 0.01 0.994416 C 0.99 D 0.936 D 1.0 D 0.999684 D 3.24 124 41 0.248 187 1 0.005 3.60998971310502411e-14 0.585 1.000 143,107,36,0.252 166,164,1,0.006 11.807 13.258 chr4 2460909 2460909 G A exonic LOC402160 nonsynonymous SNV LOC402160:NM_001193282:exon13:c.G1379A:p.R460H 138 70 0.337 199 2 0.010 2.6936233865171257e-21 0.457 0.500 168,108,60,0.357 162,161,1,0.006 18.750 60 chr4 3319170 3319170 G A exonic RGS12 nonsynonymous SNV RGS12:NM_002926:exon2:c.G1273A:p.G425S,RGS12:NM_198229:exon2:c.G1273A:p.G425S Score=543;Name=lod=215 0.01 0.998667 C 1.0 D 0.991 D 1.0 D 0.987687 D 4.29 226 85 0.273 268 1 0.004 9.91671988241779723e-25 0.494 0.000 268,190,77,0.288 233,232,1,0.004 21.816 60 chr4 126237923 126237923 C T exonic FAT4 synonymous SNV FAT4:NM_024582:exon1:c.C357T:p.T119T 282 92 0.246 346 0 0.000 1.47796052456019063e-29 0.587 --- 320,240,80,0.250 306,305,0,0.000 25.654 60 chr4 153249384 153249384 C T exonic FBXW7 nonsynonymous SNV FBXW7:NM_001013415:exon8:c.G1040A:p.R347H,FBXW7:NM_018315:exon8:c.G1154A:p.R385H,FBXW7:NM_033632:exon9:c.G1394A:p.R465H Score=531;Name=lod=192 ID=COSM117308,COSM117310,COSM22965,COSM1149856,COSM117309;OCCURENCE=1(ovary),33(haematopoietic_and_lymphoid_tissue),1(lung),1(cervix),17(large_intestine),1(biliary_tract),5(endometrium) 0 0.999208 C 1.0 D 1.0 D 1.0 D 0.999991 D 5.58 103 37 0.264 117 0 0.000 2.56688674676555346e-11 0.676 --- 115,84,31,0.270 99,98,0,0.000 9.174 60 chr5 112164586 112164586 C T exonic APC stopgain APC:NM_001127511:exon12:c.C1606T:p.R536X,APC:NM_000038:exon14:c.C1660T:p.R554X,APC:NM_001127510:exon15:c.C1660T:p.R554X Score=618;Name=lod=432 ID=COSM19040;OCCURENCE=1(ovary),10(large_intestine) rs137854573 1 0.202288 N 0.840145 NA 0.604364 NA 1.0 D 1.0 A 1.89 24 34 0.586 92 0 0.000 2.24993658195601521e-18 0.647 --- 45,20,25,0.556 75,75,0,0.000 13.120 60 chr5 139216753 139216753 C T exonic PSD2 nonsynonymous SNV PSD2:NM_032289:exon11:c.C1595T:p.T532M Score=329;Name=lod=29 0 0.969099 C 1.0 D 0.959 D 1.0 D 0.999716 D 3.2 105 47 0.309 113 0 0.000 1.36781033590934628e-13 0.553 --- 132,89,43,0.326 96,96,0,0.000 11.667 60 chr5 140202545 140202545 G T exonic PCDHA5 nonsynonymous SNV PCDHA5:NM_018908:exon1:c.G1185T:p.K395N,PCDHA5:NM_031501:exon1:c.G1185T:p.K395N Score=355;Name=lod=37 0 0.8896 N 0.99 D 0.511691 NA 0.826525 NA 0.003827 N 1.16 415 139 0.251 506 0 0.000 8.54973530076556149e-44 0.626 --- 460,342,117,0.255 436,436,0,0.000 37.467 12.986 chr5 140554213 140554213 C T exonic PCDHB7 synonymous SNV PCDHB7:NM_018940:exon1:c.C1797T:p.N599N Score=633;Name=lod=496 Score=0.959662;Name=chr5:140475628 962 437 0.312 1236 1 0.001 5.66224008612463756e-135 0.531 1.000 1186,819,367,0.309 1070,1068,1,0.001 60.000 5.808 chr5 140563963 140563963 C T exonic PCDHB16 nonsynonymous SNV PCDHB16:NM_020957:exon1:c.C1829T:p.T610M Score=593;Name=lod=343 Score=0.947966;Name=chr5:140604338 0 0.82901 N 1.0 D 1.0 D 0.998375 N 0.124345 N 1.24 563 121 0.177 630 0 0.000 2.23022555592040822e-37 0.636 --- 688,561,127,0.185 634,633,0,0.000 38.606 3.145 chr5 140720645 140720645 G A exonic PCDHGA2 nonsynonymous SNV PCDHGA2:NM_018915:exon1:c.G2107A:p.V703I,PCDHGA2:NM_032009:exon1:c.G2107A:p.V703I Score=403;Name=lod=58 0.22 0.958603 C 0.5 T 0.271196 NA 0.961983 U 4.75E-4 N 0.297 479 234 0.328 767 0 0.000 2.81352498576086091e-85 0.487 --- 625,415,209,0.335 638,638,0,0.000 60.000 60 chr5 179225365 179225365 C T exonic MGAT4B nonsynonymous SNV MGAT4B:NM_054013:exon12:c.G1537A:p.D513N,MGAT4B:NM_014275:exon13:c.G1492A:p.D498N Score=259;Name=lod=15 0.06 0.997534 C 0.99 D 0.132 B 1.0 D 0.999868 D 4.52 78 100 0.562 202 0 0.000 9.78333056274217572e-43 0.460 --- 163,66,97,0.595 166,166,0,0.000 38.747 60 chr6 43155738 43155738 C T exonic CUL9 synonymous SNV CUL9:NM_015089:exon7:c.C1869T:p.A623A 0.0005 rs138491396 143 60 0.296 210 0 0.000 1.68917414398612468e-21 0.500 --- 170,118,52,0.306 178,178,0,0.000 18.229 60 chr6 76022425 76022425 T A exonic FILIP1 synonymous SNV FILIP1:NM_015687:exon5:c.A3123T:p.P1041P Score=540;Name=lod=208 173 56 0.245 233 0 0.000 1.77878273761865954e-19 0.554 --- 191,140,50,0.263 192,192,0,0.000 16.789 60 chr6 100838498 100838498 C T exonic SIM1 synonymous SNV SIM1:NM_005068:exon11:c.G2040A:p.S680S 120 61 0.337 234 0 0.000 1.12177764257908777e-25 0.475 --- 157,104,53,0.338 196,196,0,0.000 21.189 60 chr6 123377105 123377105 A G exonic CLVS2 nonsynonymous SNV CLVS2:NM_001010852:exon5:c.A830G:p.N277S Score=336;Name=lod=31 0.18 0.86449 N 0.36 T 0.0020 B 0.999968 N 0.705017 D 2.45 61 44 0.419 166 0 0.000 7.62401088016046858e-22 0.477 --- 86,50,36,0.419 136,135,0,0.000 17.187 60 chr7 103202300 103202300 T A exonic RELN nonsynonymous SNV RELN:NM_005045:exon35:c.A5311T:p.M1771L,RELN:NM_173054:exon35:c.A5311T:p.M1771L Score=582;Name=lod=309 0.18 0.897913 N 0.0 T 0.999 D 1.0 N 0.760377 D 3.67 111 42 0.275 148 0 0.000 2.17649823141507851e-14 0.595 --- 140,99,41,0.293 131,131,0,0.000 13.191 60 chr7 138487694 138487694 C A exonic TMEM213 nonsynonymous SNV TMEM213:NM_001085429:exon3:c.C204A:p.D68E 0.03 163 36 0.181 224 0 0.000 2.57831857637617573e-13 0.556 --- 171,139,32,0.187 182,182,0,0.000 10.789 60 chr8 39678550 39678550 C A exonic ADAM2 nonsynonymous SNV ADAM2:NM_001464:exon6:c.G484T:p.D162Y 0.01 0.771456 N 0.98 D 0.665 P 0.856345 NA 0.379077 N 1.75 72 18 0.200 99 0 0.000 5.90992244063739096e-07 0.778 --- 74,59,15,0.203 79,79,0,0.000 5.085 7.116 chr8 52370109 52370109 C T exonic PXDNL nonsynonymous SNV PXDNL:NM_144651:exon9:c.G931A:p.A311T Score=355;Name=lod=37 0.000164 rs201353036 0.12 91 116 0.560 133 0 0.000 9.97600600274080024e-34 0.586 --- 171,76,94,0.553 108,108,0,0.000 26.339 60 chr8 53574144 53574144 A G exonic RB1CC1 nonsynonymous SNV RB1CC1:NM_001083617:exon9:c.T1309C:p.C437R,RB1CC1:NM_014781:exon9:c.T1309C:p.C437R Score=741;Name=lod=1370 0 0.998654 C 0.99 D 0.999 D 1.0 D 0.999211 D 5.21 129 144 0.527 164 0 0.000 7.38973478044170732e-39 0.521 --- 215,104,110,0.514 131,131,0,0.000 29.299 60 chr8 53852934 53852934 G A exonic NPBWR1 nonsynonymous SNV NPBWR1:NM_005285:exon1:c.G467A:p.R156H Score=374;Name=lod=44 0.01 0.999551 C 0.99 D 0.941 D 0.989083 N 0.270135 N 3.2 473 132 0.218 346 0 0.000 3.90621218683718993e-29 0.538 --- 515,402,112,0.218 305,305,0,0.000 24.648 60 chr8 72966067 72966067 G T exonic TRPA1 nonsynonymous SNV TRPA1:NM_007332:exon13:c.C1565A:p.S522Y Score=602;Name=lod=372 0 0.999422 C 0.887232 NA 0.707 P 0.999999 D 0.828243 D 4.92 72 98 0.576 133 0 0.000 4.57665940458645333e-33 0.316 --- 146,61,85,0.582 107,107,0,0.000 26.920 60 chr8 105026793 105026793 G A exonic RIMS2 nonsynonymous SNV RIMS2:NM_014677:exon17:c.G2726A:p.R909Q,RIMS2:NM_001100117:exon19:c.G3284A:p.R1095Q Score=642;Name=lod=542 0 0.999643 C 1.0 D 0.982 D 0.992352 NA 0.78344 NA 5.28 77 85 0.525 142 0 0.000 3.97936728219947771e-30 0.518 --- 128,59,69,0.539 112,112,0,0.000 24.062 60 chr9 32633225 32633225 G A exonic TAF1L nonsynonymous SNV TAF1L:NM_153809:exon1:c.C2353T:p.R785W Score=930;Name=lod=8007 0.941794 N 1.0 D 1.0 D 0.999999 D 0.999981 D 0.583 494 58 0.105 361 0 0.000 1.061542967006437e-13 0.483 --- 455,404,50,0.110 300,300,0,0.000 11.462 15.0 chr9 33797895 33797895 C T exonic PRSS3 nonsynonymous SNV PRSS3:NM_001197098:exon3:c.C248T:p.A83V,PRSS3:NM_002771:exon3:c.C269T:p.A90V,PRSS3:NM_007343:exon3:c.C440T:p.A147V,PRSS3:NM_001197097:exon4:c.C311T:p.A104V Score=0.954248;Name=chr9:33612452 0.0005 rs185336947 0.21 0.983708 C 0.29 T 0.0 B 0.990116 N 0.022288 N 2.51 463 126 0.214 380 0 0.000 2.36697321357385926e-30 0.516 --- 481,371,110,0.229 309,309,0,0.000 25.944 60 chr9 111617860 111617860 G A exonic ACTL7B synonymous SNV ACTL7B:NM_006686:exon1:c.C351T:p.H117H Score=613;Name=lod=413 rs201253792 172 104 0.377 376 0 0.000 1.61144490325911529e-45 0.519 --- 239,146,92,0.387 319,319,0,0.000 39.379 60 chr9 125288840 125288840 C T exonic OR1N1 nonsynonymous SNV OR1N1:NM_012363:exon1:c.G733A:p.V245I 0.000308 ID=COSM455297;OCCURENCE=1(breast) rs151154516 0.03 0.954399 C 0.91 T 0.0010 B 0.996893 U 0.066349 N 2.32 73 40 0.354 191 0 0.000 3.54199636416470342e-20 0.450 --- 98,59,39,0.398 159,159,0,0.000 18.835 60 chr9 125552152 125552152 G A exonic OR5C1 nonsynonymous SNV OR5C1:NM_001001923:exon1:c.G941A:p.C314Y 0.33 0.993484 C 1.0 D 0.885 D 0.338391 U 0.408012 NA 2.14 99 24 0.195 194 0 0.000 2.99811468779940839e-11 0.333 --- 109,81,27,0.250 157,157,0,0.000 11.473 8.676 chr9 130658547 130658547 G A exonic ST6GALNAC6 nonsynonymous SNV ST6GALNAC6:NM_013443:exon3:c.C91T:p.R31C Score=481;Name=lod=120 0.000538 rs146516243 0 0.873535 N 1.0 D 0.887 D 0.038755 N 0.040884 N -1.1 74 9 0.108 122 0 0.000 0.000222901116424821497 0.556 --- 64,58,6,0.094 97,97,0,0.000 2.468 4.591 chr10 71264208 71264208 C T exonic TSPAN15 synonymous SNV TSPAN15:NM_012339:exon6:c.C585T:p.N195N Score=491;Name=lod=132 72 30 0.294 114 0 0.000 1.20148339602607044e-11 0.567 --- 83,60,23,0.277 88,88,0,0.000 8.010 60 chr10 75413076 75413076 C T exonic SYNPO2L nonsynonymous SNV SYNPO2L:NM_001114133:exon3:c.G593A:p.R198H Score=452;Name=lod=92 0.02 245 103 0.296 323 0 0.000 8.13429126534799205e-34 0.524 --- 276,187,86,0.315 264,264,0,0.000 28.667 60 chr10 82369210 82369210 C A exonic SH2D4B synonymous SNV SH2D4B:NM_001145719:exon6:c.C744A:p.V248V,SH2D4B:NM_207372:exon6:c.C888A:p.V296V Score=325;Name=lod=28 145 58 0.286 206 0 0.000 1.86680737609207093e-20 0.655 --- 162,114,48,0.296 160,160,0,0.000 15.916 60 chr10 83635209 83635209 C T exonic NRG3 nonsynonymous SNV NRG3:NM_001010848:exon1:c.C113T:p.P38L,NRG3:NM_001165972:exon1:c.C113T:p.P38L Score=746;Name=lod=1437 0.16 0.815086 N 0.84 T 0.416222 NA 0.807469 NA 0.006458 N 0.374 37 10 0.213 54 0 0.000 0.000269514931919815574 0.800 --- 42,33,9,0.214 47,47,0,0.000 3.154 7.4 chr10 135102487 135102487 G A exonic TUBGCP2 synonymous SNV TUBGCP2:NM_001256618:exon9:c.C1008T:p.D336D,TUBGCP2:NM_006659:exon10:c.C1398T:p.D466D,TUBGCP2:NM_001256617:exon11:c.C1482T:p.D494D 0.000077 136 17 0.111 200 0 0.000 3.95237136782077806e-07 0.529 --- 126,112,14,0.111 169,169,0,0.000 5.362 12.503 chr11 27390500 27390500 A G exonic LGR4 synonymous SNV LGR4:NM_018490:exon18:c.T1770C:p.Y590Y Score=553;Name=lod=235 138 45 0.246 151 0 0.000 1.18782215097555491e-13 0.533 --- 147,110,37,0.252 131,131,0,0.000 11.153 60 chr11 49053848 49053848 G T exonic TRIM49B nonsynonymous SNV TRIM49B:NM_001206626:exon2:c.G432T:p.M144I Score=0.965647;Name=chr11:89433919 0.01 142 42 0.228 182 1 0.005 7.98367826096101817e-13 0.690 1.000 160,124,36,0.225 158,157,1,0.006 10.166 9.862 chr11 125490704 125490704 A G exonic STT3A synonymous SNV STT3A:NM_152713:exon18:c.A2117G:p.X706X Score=565;Name=lod=263 69 47 0.405 109 0 0.000 1.00443297098547631e-16 0.532 --- 97,58,38,0.396 82,82,0,0.000 12.026 60 chr11 128839459 128839459 G A exonic ARHGAP32 synonymous SNV ARHGAP32:NM_014715:exon13:c.C4560T:p.D1520D,ARHGAP32:NM_001142685:exon22:c.C5607T:p.D1869D 174 79 0.312 253 0 0.000 2.35432474902358112e-27 0.430 --- 225,153,71,0.317 223,223,0,0.000 23.948 60 chr12 10569320 10569320 C T exonic KLRC3 nonsynonymous SNV KLRC3:NM_002261:exon5:c.G533A:p.R178H,KLRC3:NM_007333:exon5:c.G533A:p.R178H Score=0.974021;Name=chr12:10584672 0.04 0.927894 N 0.98 D 0.568 P 0.979679 N 1.58E-4 N 1.74 168 38 0.184 155 0 0.000 1.35774761982665485e-10 0.526 --- 162,133,29,0.179 121,121,0,0.000 7.498 60 chr12 25047362 25047362 T A exonic BCAT1 synonymous SNV BCAT1:NM_001178092:exon2:c.A54T:p.P18P,BCAT1:NM_001178091:exon3:c.A126T:p.P42P,BCAT1:NM_001178093:exon3:c.A162T:p.P54P,BCAT1:NM_001178094:exon3:c.A123T:p.P41P,BCAT1:NM_005504:exon3:c.A126T:p.P42P Score=426;Name=lod=72 102 46 0.311 137 0 0.000 1.50094734656344458e-15 0.326 --- 118,82,36,0.305 105,105,0,0.000 11.103 60 chr12 25398284 25398284 C T exonic KRAS nonsynonymous SNV KRAS:NM_004985:exon2:c.G35A:p.G12D,KRAS:NM_033360:exon2:c.G35A:p.G12D Score=706;Name=lod=982 ID=COSM1135366,COSM521;OCCURENCE=1(salivary_gland),248(ovary),8(breast),77(stomach),107(haematopoietic_and_lymphoid_tissue),1(kidney),15(urinary_tract),20(soft_tissue),1970(pancreas),1(peritoneum),10(liver),10(oesophagus),10(gastrointestinal_tract_(site_indeterminate)),12(skin),19(prostate),615(lung),36(thyroid),15(cervix),24(upper_aerodigestive_tract),2(testis),3(eye),5503(large_intestine),1(central_nervous_system),41(small_intestine),266(biliary_tract),148(endometrium) 0.0082 rs121913529 0 0.998873 C 1.0 D 0.657 P 1.0 D 0.999991 D 5.24 123 32 0.206 133 0 0.000 5.63306084550396581e-10 0.375 --- 120,96,24,0.200 110,110,0,0.000 7.272 60 chr12 40713842 40713842 C T exonic LRRK2 nonsynonymous SNV LRRK2:NM_198578:exon34:c.C4880T:p.S1627L Score=685;Name=lod=811 rs201637880 0.09 0.998812 C 0.93 T 0.125 B 0.995338 N 0.317391 N 4.24 99 20 0.168 140 0 0.000 6.87256372934620612e-08 0.650 --- 90,74,16,0.178 107,107,0,0.000 5.787 6.454 chr12 48723385 48723385 C T exonic H1FNT nonsynonymous SNV H1FNT:NM_181788:exon1:c.C311T:p.A104V 0.27 0.012676 N 0.96 D 0.036 B 0.563133 NA 0.002388 N -5.28 227 57 0.201 282 0 0.000 6.16250776248651877e-19 0.456 --- 241,188,53,0.220 234,234,0,0.000 16.926 60 chr12 52642474 52642474 C T exonic KRT7 nonsynonymous SNV KRT7:NM_005556:exon9:c.C1340T:p.A447V 0.22 0.893593 N 0.0 T 0.0020 B 0.846721 NA 0.049613 N 1.47 128 35 0.215 190 0 0.000 1.99904307968098797e-13 0.629 --- 133,102,31,0.233 151,151,0,0.000 11.125 9.124 chr12 109865333 109865333 C G exonic MYO1H nonsynonymous SNV MYO1H:NM_001101421:exon18:c.C1843G:p.L615V Score=598;Name=lod=360 0.06 47 24 0.338 106 0 0.000 1.88354206731688151e-11 0.583 --- 60,40,20,0.333 87,87,0,0.000 8.750 60 chr12 121014462 121014462 C G exonic RNF10 nonsynonymous SNV RNF10:NM_014868:exon17:c.C2429G:p.T810S Score=648;Name=lod=573 0.19 0.999241 C 0.17 T 0.98 D 0.999958 D 0.969029 D 5.62 123 30 0.196 145 0 0.000 5.1803066832960301e-10 0.533 --- 125,99,26,0.208 114,114,0,0.000 7.892 60 chr13 49794541 49794541 C T exonic MLNR nonsynonymous SNV MLNR:NM_001507:exon1:c.C68T:p.P23L Score=284;Name=lod=19 0.2 0.13212 N 0.36 T 0.0050 B 0.468276 N 0.004496 N -0.547 132 16 0.108 154 0 0.000 7.1542508219224699e-06 0.875 --- 118,104,14,0.119 132,132,0,0.000 4.752 7.132 chr14 75329400 75329400 G A exonic PROX2 stopgain PROX2:NM_001243007:exon1:c.C1138T:p.R380X 1 152 38 0.200 194 0 0.000 3.06118103024746914e-13 0.474 --- 156,127,29,0.186 160,159,0,0.000 9.479 60 chr15 26026197 26026197 C T exonic ATP10A nonsynonymous SNV ATP10A:NM_024490:exon2:c.G623A:p.R208Q Score=569;Name=lod=275 ID=COSM258926;OCCURENCE=1(large_intestine) 1 0.997954 C 0.16 T 0.056 B 0.999983 D 0.867244 D 3.08 139 33 0.192 186 0 0.000 5.35823446512556834e-12 0.485 --- 141,113,28,0.199 151,151,0,0.000 9.520 4.718 chr15 45713240 45713240 G A splicing SPATA5L1 NM_024063:exon8:c.2095-1G>A Score=500;Name=lod=144 97 22 0.185 114 0 0.000 1.80696908973734763e-07 0.727 --- 94,75,18,0.194 91,91,0,0.000 5.508 5.54 chr15 74468195 74468195 G T exonic ISLR nonsynonymous SNV ISLR:NM_005545:exon2:c.G996T:p.E332D,ISLR:NM_201526:exon2:c.G996T:p.E332D Score=520;Name=lod=173 0.22 0.885983 N 0.59 T 0.235 P 0.994225 U 0.403205 N 1.44 191 62 0.245 269 0 0.000 3.8928607688466247e-22 0.548 --- 223,166,57,0.256 234,234,0,0.000 19.589 60 chr15 79586056 79586056 G C exonic ANKRD34C nonsynonymous SNV ANKRD34C:NM_001146341:exon2:c.G430C:p.A144P Score=535;Name=lod=199 0 227 58 0.204 275 0 0.000 4.43981433059508041e-19 0.534 --- 250,197,53,0.212 237,237,0,0.000 16.637 60 chr16 2230505 2230505 G A exonic CASKIN1 nonsynonymous SNV CASKIN1:NM_020764:exon18:c.C2864T:p.S955L Score=481;Name=lod=120 0.3 0.996801 C 0.952866 NA 0.981 D 1.0 NA 0.984714 D 3.15 237 96 0.288 259 1 0.004 3.99962233524963755e-26 0.479 1.000 285,202,82,0.289 221,220,1,0.005 21.456 60 chr16 70513148 70513148 G T exonic FUK nonsynonymous SNV FUK:NM_145059:exon23:c.G2995T:p.G999C Score=596;Name=lod=353 0 0.999262 C 1.0 D 0.999 D 1.0 D 0.660479 D 4.19 73 36 0.330 119 0 0.000 7.78415213974346972e-14 0.667 --- 93,61,32,0.344 96,95,1,0.010 9.938 60 chr17 7577498 7577498 C T splicing TP53 NM_001276761:exon8:c.665+1G>A,NM_001276760:exon8:c.665+1G>A,NM_001276699:exon4:c.305+1G>A,NM_001276698:exon4:c.305+1G>A,NM_001276697:exon4:c.305+1G>A,NM_001126117:exon4:c.386+1G>A,NM_000546:exon8:c.782+1G>A,NM_001126118:exon7:c.665+1G>A,NM_001126115:exon4:c.386+1G>A,NM_001126116:exon4:c.386+1G>A,NM_001126113:exon8:c.782+1G>A,NM_001126112:exon8:c.782+1G>A,NM_001126114:exon8:c.782+1G>A,NM_001276696:exon8:c.665+1G>A,NM_001276695:exon8:c.665+1G>A Score=440;Name=lod=82 ID=COSM395658,COSM395657,COSM98254,COSM98255,COSM43571;OCCURENCE=1(ovary),3(breast),1(stomach),1(urinary_tract),1(liver),1(oesophagus),1(lung),1(upper_aerodigestive_tract),2(large_intestine),1(biliary_tract) 20 21 0.512 44 0 0.000 6.19324566619094038e-09 0.667 --- 33,17,16,0.485 38,38,0,0.000 6.438 15.955 chr17 10360740 10360740 C T exonic MYH4 nonsynonymous SNV MYH4:NM_017533:exon16:c.G1894A:p.A632T Score=391;Name=lod=52 0.903402 N 0.68 T 0.0010 B 0.632013 U 0.084864 N 2.42 115 69 0.375 210 0 0.000 3.49111182711678401e-27 0.841 --- 162,102,60,0.370 184,182,0,0.000 22.711 60 chr17 34951525 34951525 T G exonic DHRS11 nonsynonymous SNV DHRS11:NM_024308:exon2:c.T272G:p.V91G Score=510;Name=lod=158 0 0.998507 C 1.0 D 0.992 D 1.0 D 0.999839 D 5.62 144 18 0.111 190 0 0.000 5.00831508570856084e-07 0.000 --- 162,137,25,0.154 148,148,0,0.000 7.427 8.973 chr17 58024066 58024066 C T exonic RPS6KB1 stopgain RPS6KB1:NM_001272042:exon14:c.C1426T:p.R476X,RPS6KB1:NM_001272060:exon15:c.C1426T:p.R476X,RPS6KB1:NM_003161:exon15:c.C1495T:p.R499X,RPS6KB1:NM_001272044:exon16:c.C1336T:p.R446X Score=539;Name=lod=207 Score=0.937189;Name=chr17:20616228 0.000077 rs149039467 1 0.915283 N 0.897101 NA 0.721626 NA 0.999997 D 1.0 D 2.74 116 33 0.221 136 0 0.000 7.78812171373454802e-11 0.576 --- 133,102,31,0.233 117,117,0,0.000 9.124 12.045 chr18 21776103 21776103 T C exonic OSBPL1A nonsynonymous SNV OSBPL1A:NM_018030:exon4:c.A124G:p.K42E,OSBPL1A:NM_001242508:exon6:c.A517G:p.K173E,OSBPL1A:NM_080597:exon18:c.A1663G:p.K555E Score=631;Name=lod=487 0.01 0.997406 C 0.96 D 0.026 B 1.0 D 0.637162 D 5.03 31 24 0.436 72 0 0.000 5.07541131364567701e-11 0.583 --- 42,24,18,0.429 56,56,0,0.000 7.765 15.109 chr19 989795 989795 C T exonic WDR18 stopgain WDR18:NM_024100:exon3:c.C355T:p.R119X Score=518;Name=lod=170 1 0.996517 C 0.90359 NA 0.734985 NA 0.99999 D 1.0 A 3.68 117 59 0.335 192 0 0.000 2.80731016761227903e-22 0.610 --- 146,99,46,0.317 160,160,0,0.000 16.789 60 chr19 8136998 8136998 G A exonic FBN3 synonymous SNV FBN3:NM_032447:exon62:c.C8022T:p.Y2674Y Score=525;Name=lod=181 95 34 0.264 149 0 0.000 3.1551338532600013e-13 0.471 --- 106,76,29,0.276 116,115,0,0.000 10.333 60 chr19 11106955 11106955 T C exonic SMARCA4 synonymous SNV SMARCA4:NM_001128845:exon9:c.T1660C:p.L554L,SMARCA4:NM_001128846:exon9:c.T1660C:p.L554L,SMARCA4:NM_001128847:exon9:c.T1660C:p.L554L,SMARCA4:NM_001128848:exon9:c.T1660C:p.L554L,SMARCA4:NM_001128849:exon10:c.T1660C:p.L554L,SMARCA4:NM_003072:exon10:c.T1660C:p.L554L,SMARCA4:NM_001128844:exon11:c.T1660C:p.L554L Score=616;Name=lod=424 78 33 0.297 100 0 0.000 8.26780529574817867e-11 0.576 --- 92,62,30,0.326 82,79,0,0.000 9.136 60 chr19 16860925 16860925 A G exonic NWD1 nonsynonymous SNV NWD1:NM_001007525:exon6:c.A1472G:p.E491G Score=423;Name=lod=70 0.01 0.997143 C 0.99 D 0.973 D 0.999999 D 0.610822 D 4.5 106 23 0.178 132 0 0.000 3.078626109639601e-08 0.609 --- 115,95,20,0.174 112,111,0,0.000 6.090 8.833 chr19 54410051 54410051 G A exonic PRKCG nonsynonymous SNV PRKCG:NM_002739:exon18:c.G1996A:p.D666N Score=436;Name=lod=79 0.000077 0.06 0.999197 C 0.97 D 0.013 B 0.863739 NA 0.225617 N 4.33 128 77 0.376 232 0 0.000 4.21960416245787259e-30 0.610 --- 164,105,59,0.360 182,182,0,0.000 22.043 60 chr19 55870794 55870794 T C exonic FAM71E2 nonsynonymous SNV FAM71E2:NM_001145402:exon9:c.A1442G:p.K481R 0.07 231 119 0.340 300 0 0.000 1.98715523710138245e-37 0.496 --- 284,191,92,0.325 242,240,0,0.000 27.990 12.68 chr20 21689899 21689899 G A exonic PAX1 nonsynonymous SNV PAX1:NM_001257096:exon4:c.G1099A:p.A367T,PAX1:NM_006192:exon4:c.G1099A:p.A367T Score=539;Name=lod=206 0 0.99956 C 1.0 D 0.201 P 0.999999 D 0.604487 NA 5.12 182 36 0.165 122 0 0.000 4.4433813260506544e-08 0.722 --- 189,157,32,0.169 108,108,0,0.000 6.634 10.214 chr20 44035122 44035122 G A exonic DBNDD2 nonsynonymous SNV DBNDD2:NM_018478:exon1:c.G31A:p.E11K 0 191 39 0.170 167 0 0.000 2.26702752424350837e-10 0.667 --- 186,154,32,0.172 145,145,0,0.000 8.489 60 chr20 46288185 46288185 C T exonic SULF2 nonsynonymous SNV SULF2:NM_001161841:exon20:c.G2540A:p.R847H,SULF2:NM_018837:exon20:c.G2540A:p.R847H,SULF2:NM_198596:exon20:c.G2531A:p.R844H Score=627;Name=lod=471 0.000077 rs139043540 0.05 0.999392 C 0.93 T 0.118 B 1.0 D 0.99604 D 5.82 92 18 0.164 85 0 0.000 2.04008085272943448e-05 0.500 --- 95,81,14,0.147 68,68,0,0.000 3.409 12.642 chr21 28337777 28337777 G A exonic ADAMTS5 nonsynonymous SNV ADAMTS5:NM_007038:exon1:c.C934T:p.R312C Score=698;Name=lod=916 0.999464 C 0.97 D 1.0 D 1.0 D 0.999685 D 4.44 234 92 0.282 329 0 0.000 7.07459520518666566e-32 0.478 --- 283,200,83,0.293 286,284,0,0.000 28.126 60 chr21 28338441 28338441 G A exonic ADAMTS5 synonymous SNV ADAMTS5:NM_007038:exon1:c.C270T:p.L90L Score=591;Name=lod=337 292 138 0.321 418 0 0.000 4.59929136473911978e-47 0.558 --- 376,258,117,0.312 360,360,0,0.000 38.584 60 chr21 43243714 43243714 C T exonic PRDM15 nonsynonymous SNV PRDM15:NM_001040424:exon14:c.G1832A:p.R611H,PRDM15:NM_022115:exon21:c.G2819A:p.R940H Score=523;Name=lod=178 0.05 0.998645 C 0.9 T 0.994 D 1.0 NA 0.999819 D 5.08 116 32 0.216 180 0 0.000 1.11657559658329381e-12 0.469 --- 121,93,27,0.225 142,142,0,0.000 9.929 11.483 chr22 17488914 17488914 C T exonic GAB4 nonsynonymous SNV GAB4:NM_001037814:exon1:c.G91A:p.A31T 0.01 0.109388 N 0.740231 NA 0.345 P 0.613614 NA 1.49E-4 N -0.832 121 57 0.320 173 0 0.000 8.94751916404973432e-20 0.509 --- 145,99,45,0.312 139,139,0,0.000 14.890 60 chr22 29682958 29682958 C T exonic EWSR1 stopgain EWSR1:NM_001163286:exon6:c.C460T:p.Q154X,EWSR1:NM_001163285:exon7:c.C628T:p.Q210X,EWSR1:NM_001163287:exon7:c.C628T:p.Q210X,EWSR1:NM_005243:exon7:c.C628T:p.Q210X,EWSR1:NM_013986:exon8:c.C646T:p.Q216X Score=693;Name=lod=872 0 0.998896 C 0.90379 NA 0.735269 NA 0.999381 U 1.0 A 5.27 98 28 0.222 119 0 0.000 1.84781913877022663e-09 0.714 --- 112,86,25,0.225 100,100,0,0.000 7.580 12.517 chr22 40082269 40082269 C T exonic CACNA1I synonymous SNV CACNA1I:NM_001003406:exon36:c.C6426T:p.S2142S,CACNA1I:NM_021096:exon37:c.C6531T:p.S2177S Score=278;Name=lod=18 74 22 0.229 137 0 0.000 6.90950161127152577e-10 0.545 --- 84,64,20,0.238 119,119,0,0.000 8.313 6.09 chrX 100747759 100747759 C T exonic ARMCX4 stopgain ARMCX4:NM_001256155:exon2:c.C4183T:p.Q1395X 100 37 0.270 129 0 0.000 1.51872080550174039e-12 0.486 --- 121,88,33,0.273 114,113,0,0.000 10.486 15.256 chrX 102339273 102339273 G T exonic NXF3 synonymous SNV NXF3:NM_022052:exon3:c.C348A:p.I116I Score=304;Name=lod=23 95 25 0.208 82 0 0.000 9.67352446889126107e-07 0.680 --- 96,74,22,0.229 63,63,0,0.000 5.161 9.032