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 36821029 36821029 G A exonic STK40 synonymous SNV STK40:NM_032017:exon6:c.C348T:p.R116R Score=487;Name=lod=127 60 26 0.302 113 0 0.000 2.72659422575156254e-11 0.346 --- 76,56,20,0.263 96,96,0,0.000 7.788 60 chr1 37271853 37271853 G A exonic GRIK3 synonymous SNV GRIK3:NM_000831:exon14:c.C2166T:p.N722N Score=658;Name=lod=628 0.000077 57 13 0.186 100 0 0.000 4.7770687747574372e-06 0.385 --- 60,47,13,0.217 80,80,0,0.000 5.143 10.739 chr1 43850718 43850718 G A exonic MED8 nonsynonymous SNV MED8:NM_001001653:exon7:c.C535T:p.R179W,MED8:NM_052877:exon7:c.C802T:p.R268W,MED8:NM_201542:exon7:c.C802T:p.R268W Score=631;Name=lod=488 0 94 56 0.373 147 0 0.000 5.59280443080151591e-20 0.518 --- 120,75,45,0.375 111,110,0,0.000 14.642 60 chr1 43909057 43909057 G A exonic SZT2 nonsynonymous SNV SZT2:NM_015284:exon60:c.G8363A:p.R2788H Score=516;Name=lod=167 0 0.999591 C 1.0 D 0.997 D 0.999998 D 0.931911 D 5.18 190 110 0.367 302 0 0.000 2.28163825784876184e-39 0.500 --- 260,167,93,0.358 258,258,0,0.000 32.055 60 chr1 50884751 50884751 C T exonic DMRTA2 synonymous SNV DMRTA2:NM_032110:exon3:c.G1215A:p.P405P Score=419;Name=lod=67 83 15 0.153 187 0 0.000 5.22851947391746768e-08 0.400 --- 75,64,11,0.147 145,145,0,0.000 5.365 5.088 chr1 51735782 51735782 A G exonic RNF11 nonsynonymous SNV RNF11:NM_014372:exon2:c.A278G:p.E93G Score=710;Name=lod=1023 0.22 0.999063 C 0.78 T 0.0020 B 1.0 D 0.962899 D 5.56 42 22 0.344 72 0 0.000 6.27788164766194702e-09 0.182 --- 54,35,19,0.352 58,58,0,0.000 6.883 10.086 chr1 66075759 66075759 C A exonic LEPR nonsynonymous SNV LEPR:NM_001198687:exon12:c.C1882A:p.P628T,LEPR:NM_001198688:exon12:c.C1882A:p.P628T,LEPR:NM_001198689:exon12:c.C1882A:p.P628T,LEPR:NM_001003679:exon13:c.C1882A:p.P628T,LEPR:NM_001003680:exon13:c.C1882A:p.P628T,LEPR:NM_002303:exon13:c.C1882A:p.P628T Score=448;Name=lod=88 0.01 0.972962 C 0.96 D 0.884 D 0.992771 N 0.501214 D 3.89 143 53 0.270 247 0 0.000 1.85445276299023235e-21 0.377 --- 168,121,47,0.280 194,194,0,0.000 17.409 60 chr1 91382378 91382378 G T exonic ZNF644 nonsynonymous SNV ZNF644:NM_016620:exon4:c.C295A:p.L99I,ZNF644:NM_032186:exon4:c.C295A:p.L99I,ZNF644:NM_201269:exon6:c.C3961A:p.L1321I Score=733;Name=lod=1266 0 0.999676 C 1.0 D 0.813 P 0.999038 N 0.834644 D 4.34 82 38 0.317 131 0 0.000 1.74858871457419398e-14 0.658 --- 106,74,32,0.302 114,114,0,0.000 11.388 14.808 chr1 107973393 107973393 C T exonic NTNG1 nonsynonymous SNV NTNG1:NM_001113226:exon6:c.C1109T:p.S370F Score=772;Name=lod=1831 0 74 36 0.327 109 0 0.000 9.36953284810426104e-13 0.639 --- 90,60,30,0.333 91,91,0,0.000 10.373 60 chr1 145537509 145537509 C T exonic ITGA10 nonsynonymous SNV ITGA10:NM_003637:exon20:c.C2519T:p.T840M Score=569;Name=lod=273 0 0.978023 C 0.99 D 1.0 D 0.999999 D 0.981641 D 3.27 101 39 0.279 128 0 0.000 1.05497925884658035e-12 0.359 --- 121,87,34,0.281 99,99,0,0.000 9.696 60 chr1 155234030 155234030 C T exonic CLK2 nonsynonymous SNV CLK2:NM_003993:exon11:c.G1205A:p.R402Q Score=545;Name=lod=219 0.03 0.997954 C 0.97 D 0.883 D 1.0 D 0.999998 D 4.17 95 35 0.269 119 0 0.000 1.07264563228844917e-11 0.600 --- 105,78,27,0.257 98,98,0,0.000 8.489 13.308 chr1 161476210 161476210 G T exonic FCGR2A nonsynonymous SNV FCGR2A:NM_001136219:exon3:c.G193T:p.A65S,FCGR2A:NM_021642:exon3:c.G190T:p.A64S 0 rs201099382 0.09 0.147221 N 0.45 T 0.0 B 0.938853 N 0.638362 D -2.0 192 113 0.370 254 0 0.000 2.49118932536670898e-35 0.717 --- 266,170,96,0.361 228,227,1,0.004 28.271 60 chr1 161641296 161641296 A C exonic FCGR2B nonsynonymous SNV FCGR2B:NM_001190828:exon2:c.A227C:p.Q76P,FCGR2B:NM_001002273:exon3:c.A245C:p.Q82P,FCGR2B:NM_001002274:exon3:c.A248C:p.Q83P,FCGR2B:NM_001002275:exon3:c.A245C:p.Q82P,FCGR2B:NM_004001:exon3:c.A248C:p.Q83P Score=0.986983;Name=chr1:161518643 rs5017567 0.01 0.034592 N 0.99 D 0.955 D 0.463467 N 0.693885 D -1.48 224 60 0.211 319 0 0.000 6.03350435021235774e-22 0.550 --- 252,193,59,0.234 269,268,0,0.000 20.284 60 chr1 166974588 166974588 C T exonic MAEL stopgain MAEL:NM_032858:exon8:c.C799T:p.R267X Score=540;Name=lod=208 ID=COSM169718;OCCURENCE=2(large_intestine) 0.85 0.980859 C 0.902861 NA 0.726709 NA 0.967639 N 1.0 A 4.07 60 41 0.406 130 0 0.000 6.11850587933463442e-18 0.488 --- 78,48,30,0.385 104,104,0,0.000 12.743 60 chr1 192778203 192778203 T C exonic RGS2 nonsynonymous SNV RGS2:NM_002923:exon1:c.T2C:p.M1T Score=472;Name=lod=110 0.996764 C 1.0 D 0.992 D 0.999964 D 0.046824 N 4.27 52 40 0.435 52 0 0.000 5.57493261322454238e-10 0.675 --- 69,37,32,0.464 48,47,0,0.000 8.861 60 chr1 204403072 204403072 C T exonic PIK3C2B nonsynonymous SNV PIK3C2B:NM_002646:exon26:c.G3692A:p.R1231H Score=460;Name=lod=99 0.000077 0 0.999197 C 1.0 D 1.0 D 0.999998 D 0.902109 D 5.56 58 17 0.227 84 0 0.000 9.65431187865162541e-07 0.176 --- 68,51,17,0.250 72,72,0,0.000 5.841 7.645 chr1 206711608 206711608 G A exonic RASSF5 nonsynonymous SNV RASSF5:NM_182663:exon2:c.G565A:p.V189M,RASSF5:NM_182664:exon2:c.G565A:p.V189M 0.000077 0.0046 rs148860285 0.02 0.077085 N 0.98 D 0.013 B 0.352611 N 2.8E-5 N -4.49 110 42 0.276 181 0 0.000 1.4022796848436534e-16 0.429 --- 125,88,37,0.296 142,142,0,0.000 13.638 8.707 chr1 216595459 216595459 C T exonic USH2A nonsynonymous SNV USH2A:NM_007123:exon2:c.G220A:p.E74K,USH2A:NM_206933:exon2:c.G220A:p.E74K 0 0.051283 N 0.4 T 0.831 P 0.985143 U 0.632969 D 3.62 175 42 0.194 263 0 0.000 2.99753779460732194e-16 0.643 --- 188,147,40,0.214 214,214,0,0.000 14.333 60 chr1 233490708 233490708 G T exonic KIAA1804 nonsynonymous SNV KIAA1804:NM_032435:exon4:c.G1262T:p.W421L Score=623;Name=lod=453 0.999742 C 0.99 D 0.996 D 1.0 D 0.999301 D 5.0 50 37 0.425 112 0 0.000 2.16114654135006401e-16 0.378 --- 72,43,29,0.403 87,87,0,0.000 11.653 60 chr1 235972590 235972590 T C exonic LYST nonsynonymous SNV LYST:NM_000081:exon5:c.A1528G:p.M510V Score=539;Name=lod=206 0.31 0.99724 C 1.0 D 0.974 D 0.999999 D 0.02271 N 3.84 74 30 0.288 100 0 0.000 1.8861561356828353e-10 0.600 --- 90,64,26,0.289 89,89,0,0.000 8.443 60 chr1 247492533 247492533 C T exonic ZNF496 synonymous SNV ZNF496:NM_032752:exon3:c.G348A:p.A116A 172 83 0.325 230 0 0.000 4.22969369355287733e-27 0.614 --- 215,143,71,0.332 197,197,0,0.000 23.007 60 chr2 1481315 1481315 C T exonic TPO nonsynonymous SNV TPO:NM_175721:exon7:c.C1277T:p.A426V,TPO:NM_000547:exon8:c.C1277T:p.A426V,TPO:NM_001206744:exon8:c.C1277T:p.A426V,TPO:NM_001206745:exon8:c.C1277T:p.A426V,TPO:NM_175719:exon8:c.C1277T:p.A426V ID=COSM1399814;OCCURENCE=1(large_intestine) 0.01 0.954399 C 0.99 D 0.065 B 0.536561 N 0.002549 N 2.81 372 91 0.197 396 0 0.000 4.20012450939481287e-27 0.484 --- 401,317,81,0.204 343,342,0,0.000 23.533 6.76 chr2 27603116 27603116 C T splicing ZNF513 NM_144631:exon3:c.56-1G>A Score=625;Name=lod=462 289 63 0.179 225 0 0.000 3.47017698842780142e-15 0.413 --- 299,247,52,0.174 193,193,0,0.000 12.017 60 chr2 39187333 39187333 C T exonic ARHGEF33 synonymous SNV ARHGEF33:NM_001145451:exon14:c.C1887T:p.Y629Y Score=641;Name=lod=537 1 190 205 0.519 281 0 0.000 5.78360625438433439e-62 0.532 --- 337,156,181,0.537 225,225,0,0.000 52.056 60 chr2 128389921 128389921 C T exonic MYO7B nonsynonymous SNV MYO7B:NM_001080527:exon38:c.C5272T:p.R1758W Score=321;Name=lod=27 0 208 49 0.191 210 0 0.000 2.07807959856484745e-14 0.510 --- 205,163,42,0.205 160,160,0,0.000 11.261 60 chr2 131976311 131976311 C T exonic POTEE synonymous SNV POTEE:NM_001083538:exon1:c.C336T:p.S112S Score=0.985749;Name=chr2:130818815 244 198 0.448 368 0 0.000 2.87439029546420216e-64 0.444 --- 391,213,177,0.454 319,319,0,0.000 56.269 60 chr2 141571326 141571326 C A exonic LRP1B synonymous SNV LRP1B:NM_018557:exon32:c.G5259T:p.G1753G Score=668;Name=lod=692 53 10 0.159 67 0 0.000 0.000479748198527927069 0.300 --- 57,47,10,0.175 54,54,0,0.000 2.885 7.763 chr2 141571339 141571339 C A exonic LRP1B nonsynonymous SNV LRP1B:NM_018557:exon32:c.G5246T:p.W1749L Score=563;Name=lod=260 ID=COSM1399744;OCCURENCE=1(large_intestine) 0 0.999209 C 0.96 D 0.999 D 1.0 D 0.910077 D 5.58 49 11 0.183 65 0 0.000 0.000184814509743724593 0.364 --- 53,43,10,0.189 55,55,0,0.000 3.298 9.443 chr2 170062108 170062108 G A exonic LRP2 synonymous SNV LRP2:NM_004525:exon41:c.C7596T:p.I2532I Score=548;Name=lod=224 62 73 0.541 117 0 0.000 5.9389150000539184e-26 0.411 --- 115,55,59,0.518 97,96,0,0.000 19.676 60 chr2 179605233 179605233 C T exonic TTN nonsynonymous SNV TTN:NM_003319:exon45:c.G11638A:p.D3880N,TTN:NM_001256850:exon46:c.G11776A:p.D3926N,TTN:NM_133432:exon46:c.G12013A:p.D4005N,TTN:NM_133437:exon46:c.G12214A:p.D4072N,TTN:NM_001267550:exon48:c.G12727A:p.D4243N 163 150 0.479 208 0 0.000 3.44478241205907396e-42 0.440 --- 271,140,130,0.481 179,179,0,0.000 35.979 60 chr2 185803471 185803471 C T exonic ZNF804A synonymous SNV ZNF804A:NM_194250:exon4:c.C3348T:p.A1116A 0.000461 rs149962176 91 83 0.477 179 0 0.000 5.87405605229041496e-32 0.422 --- 148,77,67,0.465 152,152,0,0.000 25.476 60 chr2 210594929 210594929 C A exonic MAP2 nonsynonymous SNV MAP2:NM_031845:exon12:c.C1224A:p.F408L,MAP2:NM_031847:exon13:c.C1317A:p.F439L,MAP2:NM_001039538:exon15:c.C1488A:p.F496L,MAP2:NM_002374:exon15:c.C5292A:p.F1764L Score=628;Name=lod=477 0.01 0.997693 C 0.99 D 0.998 D 0.999991 D 0.997412 D 5.17 49 67 0.578 82 0 0.000 2.51992005051312577e-21 0.642 --- 95,42,53,0.558 72,72,0,0.000 16.800 60 chr2 216251426 216251426 C T exonic FN1 nonsynonymous SNV FN1:NM_002026:exon27:c.G4325A:p.G1442D,FN1:NM_212474:exon27:c.G4325A:p.G1442D,FN1:NM_212476:exon27:c.G4325A:p.G1442D,FN1:NM_212478:exon27:c.G4325A:p.G1442D,FN1:NM_212482:exon28:c.G4598A:p.G1533D Score=495;Name=lod=137 0 0.939331 N 0.99 D 0.998 D 1.0 D 0.999997 D 5.82 86 27 0.239 83 0 0.000 8.39120978493669349e-08 0.630 --- 104,81,23,0.221 73,73,0,0.000 5.768 9.38 chr2 226447694 226447694 G A exonic NYAP2 nonsynonymous SNV NYAP2:NM_020864:exon4:c.G1561A:p.G521S Score=483;Name=lod=122 0.000679 0.0014 rs201097764 0 139 131 0.485 202 0 0.000 1.77977285370514341e-40 0.473 --- 226,116,107,0.480 161,161,0,0.000 31.361 60 chr3 53837538 53837538 G A exonic CACNA1D nonsynonymous SNV CACNA1D:NM_001128839:exon42:c.G5452A:p.E1818K,CACNA1D:NM_001128840:exon44:c.G5524A:p.E1842K,CACNA1D:NM_000720:exon45:c.G5584A:p.E1862K Score=450;Name=lod=90 0.01 0.99887 C 0.91 T 0.208 P 0.229476 N 0.449176 N 4.09 65 39 0.375 92 0 0.000 3.39451556697879742e-13 0.538 --- 87,53,34,0.391 73,73,0,0.000 10.591 60 chr3 77623682 77623682 C T exonic ROBO2 synonymous SNV ROBO2:NM_002942:exon14:c.C2004T:p.Y668Y Score=595;Name=lod=349 74 31 0.295 133 0 0.000 5.34353598973827911e-13 0.710 --- 91,63,27,0.300 111,111,0,0.000 10.517 60 chr3 172166029 172166029 C T exonic GHSR nonsynonymous SNV GHSR:NM_004122:exon1:c.G175A:p.A59T,GHSR:NM_198407:exon1:c.G175A:p.A59T Score=694;Name=lod=883 0.84 0.999373 C 0.0 T 0.0 B 0.866989 N 1.2E-4 N -0.301 150 77 0.339 241 0 0.000 2.09459356983883976e-28 0.481 --- 201,132,69,0.343 207,207,0,0.000 24.334 60 chr3 178936091 178936091 G A exonic PIK3CA nonsynonymous SNV PIK3CA:NM_006218:exon10:c.G1633A:p.E545K Score=549;Name=lod=228 Score=0.979452;Name=chr22:17049389 ID=COSM763,COSM125370;OCCURENCE=25(ovary),301(breast),1(NS),4(penis),1(haematopoietic_and_lymphoid_tissue),18(stomach),2(kidney),2(soft_tissue),103(urinary_tract),2(pancreas),8(oesophagus),1(pituitary),14(skin),18(lung),24(cervix),5(thyroid),14(upper_aerodigestive_tract),288(large_intestine),11(central_nervous_system),1(biliary_tract),38(endometrium) 0.025 rs104886003 0 0.999704 C 0.958467 NA 0.997 D 1.0 D 0.999985 D 5.43 53 12 0.185 51 0 0.000 0.00105876807775502718 0.500 --- 52,42,10,0.192 41,41,0,0.000 2.678 10.45 chr4 6303645 6303645 G A exonic WFS1 nonsynonymous SNV WFS1:NM_001145853:exon8:c.G2123A:p.R708H,WFS1:NM_006005:exon8:c.G2123A:p.R708H Score=470;Name=lod=108 0.000077 0.01 0.999491 C 0.98 D 0.999 D 1.0 D 0.903412 D 5.03 157 80 0.338 245 0 0.000 6.0153994264759511e-29 0.425 --- 213,143,69,0.325 213,213,0,0.000 23.732 60 chr4 8216238 8216238 C T exonic SH3TC1 stopgain SH3TC1:NM_018986:exon5:c.C412T:p.Q138X Score=419;Name=lod=67 0.21 0.966583 C 0.901207 NA 0.729977 NA 0.999509 D 1.0 A 2.51 87 28 0.243 120 0 0.000 3.0196083796407707e-10 0.571 --- 91,71,20,0.220 89,88,0,0.000 6.210 14.955 chr4 70512768 70512768 C A exonic UGT2A1 stopgain UGT2A1:NM_001252274:exon2:c.G595T:p.E199X,UGT2A1:NM_001252275:exon2:c.G595T:p.E199X,UGT2A1:NM_006798:exon2:c.G595T:p.E199X Score=340;Name=lod=32 0.3 0.983443 C 0.862499 NA 0.635241 NA 0.991711 N 0.67568 NA 4.36 126 72 0.364 196 0 0.000 1.57994442706437429e-25 0.514 --- 164,102,62,0.378 168,168,0,0.000 22.134 60 chr4 123855669 123855669 G A exonic SPATA5 nonsynonymous SNV SPATA5:NM_145207:exon5:c.G923A:p.R308K 1 0.763968 N 0.0 T 0.0 B 0.921631 N 0.003863 N 0.291 151 18 0.107 180 0 0.000 1.30997269446569391e-06 0.389 --- 141,127,14,0.099 152,152,0,0.000 4.600 10.097 chr4 140188024 140188024 G T exonic MGARP nonsynonymous SNV MGARP:NM_032623:exon4:c.C452A:p.A151E 0.06 0.139627 N 0.86 T 0.84 P 0.095487 N 0.009769 N -6.07 123 61 0.332 192 0 0.000 2.59587802312910196e-22 0.459 --- 159,105,54,0.340 160,160,0,0.000 18.702 60 chr4 145038046 145038046 C A exonic GYPA synonymous SNV GYPA:NM_002099:exon5:c.G318T:p.T106T Score=0.969379;Name=chr4:144796863 16 9 0.360 33 0 0.000 0.000191848923143653137 0.444 --- 19,13,6,0.316 28,28,0,0.000 2.597 7.939 chr4 148453781 148453781 C T exonic EDNRA synonymous SNV EDNRA:NM_001957:exon4:c.C672T:p.F224F Score=485;Name=lod=125 0.000077 rs142493349 105 42 0.286 138 0 0.000 3.1567808363288673e-14 0.405 --- 126,90,33,0.268 118,116,0,0.000 10.525 60 chr4 170601323 170601323 C T exonic CLCN3 stopgain CLCN3:NM_001243374:exon2:c.C202T:p.R68X,CLCN3:NM_001243372:exon3:c.C283T:p.R95X,CLCN3:NM_001829:exon3:c.C283T:p.R95X,CLCN3:NM_173872:exon3:c.C283T:p.R95X Score=0.903963;Name=chr9:15031342 1 0.051283 N 0.82811 NA 0.579227 NA 0.998289 N 1.0 A -3.28 63 28 0.308 68 0 0.000 2.12312802290544964e-08 0.393 --- 77,51,25,0.329 61,60,0,0.000 6.957 11.219 chr5 1034382 1034382 C T exonic NKD2 synonymous SNV NKD2:NM_001271082:exon6:c.C363T:p.D121D,NKD2:NM_033120:exon6:c.C363T:p.D121D Score=521;Name=lod=174 0.000385 rs149056716 56 51 0.477 74 0 0.000 3.22983032155255351e-15 0.627 --- 80,41,39,0.488 58,58,0,0.000 11.484 60 chr5 82786240 82786240 G A exonic VCAN nonsynonymous SNV VCAN:NM_001126336:exon3:c.G394A:p.V132I,VCAN:NM_001164097:exon3:c.G394A:p.V132I,VCAN:NM_001164098:exon3:c.G394A:p.V132I,VCAN:NM_004385:exon3:c.G394A:p.V132I Score=385;Name=lod=49 0.000077 0.0009 rs201515722 0 0.992888 C 0.99 D 0.97 D 0.999986 D 0.042723 N 4.24 207 72 0.258 251 0 0.000 1.07960773272621121e-22 0.417 --- 234,175,59,0.252 201,200,0,0.000 17.473 12.926 chr5 112175621 112175621 C T exonic APC stopgain APC:NM_001127511:exon14:c.C4276T:p.Q1426X,APC:NM_000038:exon16:c.C4330T:p.Q1444X,APC:NM_001127510:exon17:c.C4330T:p.Q1444X Score=647;Name=lod=569 ID=COSM19021;OCCURENCE=1(pancreas),1(large_intestine) 0.29 0.999392 C 0.90382 NA 0.73546 NA 0.999999 D 1.0 D 5.82 48 161 0.770 186 0 0.000 1.49173979744014064e-67 0.522 --- 176,38,138,0.784 151,151,0,0.000 56.328 60 chr5 113831648 113831648 C T exonic KCNN2 synonymous SNV KCNN2:NM_170775:exon6:c.C465T:p.F155F,KCNN2:NM_021614:exon8:c.C1509T:p.F503F Score=628;Name=lod=477 ID=COSM167031,COSM167030;OCCURENCE=1(large_intestine) 55 95 0.633 133 0 0.000 3.37237518466223569e-36 0.768 --- 134,47,85,0.644 110,110,0,0.000 30.601 60 chr5 127610317 127610317 C T exonic FBN2 synonymous SNV FBN2:NM_001999:exon60:c.G7653A:p.L2551L Score=601;Name=lod=368 74 11 0.129 93 0 0.000 0.000205373136425022908 0.545 --- 65,55,10,0.154 64,63,0,0.000 2.869 5.931 chr5 140580258 140580258 G A exonic PCDHB11 nonsynonymous SNV PCDHB11:NM_018931:exon1:c.G911A:p.R304K 1 2.5E-5 N 0.0 T 0.0 B 0.594865 NA 5.5E-5 N -4.51 130 42 0.244 137 0 0.000 3.17806478617251053e-12 0.429 --- 161,121,40,0.248 119,119,0,0.000 10.354 60 chr5 140789315 140789315 G A exonic PCDHGB6 nonsynonymous SNV PCDHGB6:NM_018926:exon1:c.G1546A:p.A516T,PCDHGB6:NM_032100:exon1:c.G1546A:p.A516T Score=519;Name=lod=172 349 99 0.221 324 0 0.000 4.30931912909853209e-26 0.505 --- 392,300,92,0.235 271,270,0,0.000 22.887 60 chr5 150901012 150901012 C T exonic FAT2 synonymous SNV FAT2:NM_001447:exon18:c.G11142A:p.V3714V Score=325;Name=lod=28 185 48 0.206 242 0 0.000 9.06411488225798065e-17 0.375 --- 211,169,42,0.199 193,193,0,0.000 12.512 60 chr5 167835604 167835604 C T exonic WWC1 synonymous SNV WWC1:NM_001161661:exon7:c.C813T:p.F271F,WWC1:NM_001161662:exon7:c.C813T:p.F271F,WWC1:NM_015238:exon7:c.C813T:p.F271F 120 110 0.478 215 0 0.000 1.40860600644145186e-39 0.482 --- 175,89,86,0.491 169,169,0,0.000 31.251 60 chr5 169267807 169267807 G A exonic DOCK2 nonsynonymous SNV DOCK2:NM_004946:exon27:c.G2750A:p.R917Q Score=517;Name=lod=169 0 0.999422 C 0.98 D 0.017 B 1.0 D 0.011659 N 4.93 101 34 0.252 133 0 0.000 1.09930560787928147e-11 0.559 --- 111,82,28,0.255 105,105,0,0.000 8.899 13.827 chr5 170737292 170737292 G A exonic TLX3 nonsynonymous SNV TLX3:NM_021025:exon2:c.G560A:p.R187H Score=707;Name=lod=997 0 0.997661 C 0.87 T 0.999 D 1.0 D 0.999889 D 3.86 213 83 0.280 222 0 0.000 2.45795458169968709e-23 0.554 --- 254,182,72,0.283 192,192,0,0.000 19.703 60 chr5 180048658 180048658 G A exonic FLT4 nonsynonymous SNV FLT4:NM_002020:exon13:c.C1904T:p.T635M,FLT4:NM_182925:exon13:c.C1904T:p.T635M Score=614;Name=lod=417 0.01 0.999139 C 0.99 D 0.762 P 0.907891 NA 0.272327 N 4.29 187 58 0.237 193 0 0.000 1.13738890403131895e-16 0.534 --- 201,157,44,0.219 157,157,0,0.000 11.935 60 chr5 180048788 180048788 G A exonic FLT4 nonsynonymous SNV FLT4:NM_002020:exon13:c.C1774T:p.R592C,FLT4:NM_182925:exon13:c.C1774T:p.R592C Score=581;Name=lod=307 0.000077 0 0.999139 C 1.0 D 0.999 D 1.0 NA 0.999995 D 4.29 105 107 0.505 153 0 0.000 1.29023876383198637e-32 0.439 --- 183,90,93,0.508 132,132,0,0.000 27.827 60 chr6 87725471 87725471 C T exonic HTR1E nonsynonymous SNV HTR1E:NM_000865:exon2:c.C419T:p.A140V Score=366;Name=lod=41 0.000077 0.0082 0.01 0.952688 C 0.97 D 0.0 B 0.994124 U 0.001872 N 2.54 103 48 0.318 201 0 0.000 1.46209849984593951e-20 0.542 --- 128,83,44,0.346 166,166,0,0.000 18.182 60 chr6 107956654 107956654 G A exonic SOBP nonsynonymous SNV SOBP:NM_018013:exon6:c.G2606A:p.R869K Score=754;Name=lod=1541 0 0.999502 C 0.940534 NA 0.956 D 0.985151 U 0.836271 D 5.03 155 58 0.272 219 0 0.000 1.60734908604331192e-20 0.534 --- 180,126,52,0.292 169,169,0,0.000 16.912 60 chr6 112506487 112506487 C A exonic LAMA4 nonsynonymous SNV LAMA4:NM_001105206:exon9:c.G1029T:p.E343D,LAMA4:NM_001105207:exon9:c.G1008T:p.E336D,LAMA4:NM_002290:exon9:c.G1008T:p.E336D Score=533;Name=lod=196 0.04 0.935883 N 1.0 D 0.871 D 0.99997 N 0.999403 D 2.51 44 13 0.228 50 0 0.000 0.000154749329518688821 0.538 --- 47,37,10,0.213 43,43,0,0.000 2.906 12.597 chr6 158994465 158994465 C T exonic TMEM181 nonsynonymous SNV TMEM181:NM_020823:exon2:c.C433T:p.R145W Score=505;Name=lod=151 0 0.964927 C 1.0 D 1.0 D 1.0 D 0.999997 D 3.06 74 32 0.302 104 0 0.000 3.03273158242299845e-11 0.531 --- 87,62,25,0.287 78,78,0,0.000 7.762 12.604 chr6 159653105 159653105 C T exonic FNDC1 stopgain FNDC1:NM_032532:exon11:c.C1561T:p.R521X 0.000084 1 122 40 0.247 171 0 0.000 1.80945128755030568e-14 0.525 --- 148,112,36,0.243 148,148,0,0.000 11.590 60 chr6 160328166 160328166 G A exonic MAS1 nonsynonymous SNV MAS1:NM_002377:exon1:c.G179A:p.R60Q Score=468;Name=lod=106 0.48 0.999679 C 0.6 T 0.622 P 0.982636 N 0.321286 N 5.37 124 63 0.337 180 0 0.000 7.61979109102320176e-22 0.349 --- 167,110,56,0.337 150,150,0,0.000 17.938 60 chr6 161513096 161513096 G T exonic MAP3K4 nonsynonymous SNV MAP3K4:NM_005922:exon13:c.G3190T:p.D1064Y,MAP3K4:NM_006724:exon13:c.G3190T:p.D1064Y Score=660;Name=lod=639 0 0.999825 C 0.98 D 0.743 P 0.999969 D 1.0 D 5.82 44 29 0.397 107 0 0.000 7.22134887615074285e-14 0.621 --- 59,38,21,0.356 88,87,1,0.011 8.244 60 chr7 1785037 1785037 C T exonic ELFN1 nonsynonymous SNV ELFN1:NM_001128636:exon2:c.C805T:p.R269C 265 258 0.493 337 0 0.000 2.5452039370594998e-71 0.422 --- 452,225,225,0.500 281,280,0,0.000 59.977 60 chr7 4900138 4900138 C T exonic PAPOLB nonsynonymous SNV PAPOLB:NM_020144:exon1:c.G1304A:p.R435H 0.15 88 29 0.248 90 0 0.000 1.38213766987545509e-08 0.517 --- 105,79,26,0.248 76,76,0,0.000 6.768 15.477 chr7 22767229 22767229 C T exonic IL6 synonymous SNV IL6:NM_000600:exon2:c.C186T:p.D62D 0.42 199 49 0.198 154 0 0.000 1.1442021731844266e-11 0.388 --- 214,167,47,0.220 131,131,0,0.000 10.482 15.955 chr7 27150189 27150189 A C exonic HOXA3 nonsynonymous SNV HOXA3:NM_030661:exon2:c.T71G:p.F24C,HOXA3:NM_153631:exon3:c.T71G:p.F24C Score=818;Name=lod=2808 0 0.998205 C 1.0 D 0.998 D 0.999999 D 0.990096 D 4.95 271 35 0.114 210 1 0.005 1.50525506937808014e-07 1.000 1.000 301,250,50,0.167 172,170,2,0.012 8.060 60 chr7 99704873 99704873 G A exonic TAF6 nonsynonymous SNV TAF6:NM_001190415:exon15:c.C2141T:p.P714L,TAF6:NM_005641:exon15:c.C2030T:p.P677L,TAF6:NM_139315:exon15:c.C2030T:p.P677L 0 0.891365 N 1.0 D 0.291 P 0.949796 N 0.277241 N 0.457 283 76 0.212 216 0 0.000 1.33628153059447684e-17 0.763 --- 317,248,68,0.215 197,195,0,0.000 15.396 6.434 chr7 149462511 149462511 G A exonic ZNF467 synonymous SNV ZNF467:NM_207336:exon5:c.C1080T:p.C360C Score=317;Name=lod=26 300 123 0.291 264 1 0.004 1.99153171521803105e-28 0.447 1.000 377,265,112,0.297 233,232,1,0.004 24.897 60 chr8 11058599 11058599 G A exonic XKR6 nonsynonymous SNV XKR6:NM_173683:exon1:c.C250T:p.R84C Score=750;Name=lod=1490 0.01 0.994692 C 0.98 D 0.504 P 0.947167 NA 0.642872 NA 3.27 37 42 0.532 64 0 0.000 2.70615399743696081e-14 0.762 --- 68,30,36,0.545 50,50,0,0.000 11.329 60 chr8 21768200 21768200 C T exonic DOK2 nonsynonymous SNV DOK2:NM_003974:exon4:c.G602A:p.R201H Score=508;Name=lod=155 0.001000 0.0009 rs113214277 0 0.996353 C 0.99 D 1.0 D 1.0 D 0.439236 N 4.16 257 54 0.174 218 0 0.000 6.51757676303367939e-14 0.500 --- 263,215,48,0.183 180,180,0,0.000 11.451 60 chr8 42294702 42294702 G A exonic SLC20A2 nonsynonymous SNV SLC20A2:NM_001257180:exon8:c.C1328T:p.A443V,SLC20A2:NM_001257181:exon8:c.C1328T:p.A443V,SLC20A2:NM_006749:exon8:c.C1328T:p.A443V Score=295;Name=lod=21 0.56 0.999645 C 0.71 T 0.985 D 1.0 D 0.997248 D 5.29 160 61 0.276 209 0 0.000 2.1756012562464502e-20 0.541 --- 184,133,51,0.277 182,182,0,0.000 16.792 60 chr8 105261014 105261014 C T exonic RIMS2 nonsynonymous SNV RIMS2:NM_014677:exon19:c.C3004T:p.R1002C,RIMS2:NM_001100117:exon21:c.C3562T:p.R1188C Score=444;Name=lod=85 ID=COSM1453909,COSM1453908,COSM1453910,COSM1453911;OCCURENCE=1(large_intestine) 0 0.998778 C 1.0 D 0.998 D 0.880297 NA 0.0 N 5.18 64 12 0.158 50 0 0.000 0.00324900719299002649 0.417 --- 57,48,9,0.158 36,36,0,0.000 1.949 8.801 chr8 116426316 116426316 G T exonic TRPS1 nonsynonymous SNV TRPS1:NM_014112:exon7:c.C3820A:p.H1274N Score=764;Name=lod=1696 0 0.999452 C 1.0 D 0.998 D 1.0 D 0.946034 D 4.97 209 55 0.208 219 0 0.000 4.1504632865018969e-16 0.509 --- 216,172,44,0.204 175,175,0,0.000 12.262 60 chr9 846970 846970 G A exonic DMRT1 nonsynonymous SNV DMRT1:NM_021951:exon2:c.G365A:p.R122K Score=587;Name=lod=325 0 0.998408 C 0.99 D 0.98 D 1.0 D 0.997783 D 4.14 104 31 0.230 114 0 0.000 1.07771043458573985e-09 0.677 --- 115,87,28,0.243 97,96,0,0.000 8.067 13.89 chr9 19619586 19619586 G A exonic SLC24A2 synonymous SNV SLC24A2:NM_001193288:exon3:c.C1074T:p.A358A,SLC24A2:NM_020344:exon3:c.C1074T:p.A358A 67 17 0.202 83 0 0.000 6.20710318499145461e-06 0.706 --- 72,58,14,0.194 64,64,0,0.000 4.088 12.692 chr9 101216482 101216482 C T exonic GABBR2 synonymous SNV GABBR2:NM_005458:exon7:c.G1017A:p.E339E Score=609;Name=lod=397 48 44 0.478 60 0 0.000 1.59045092473023954e-12 0.182 --- 83,44,39,0.470 52,52,0,0.000 10.016 60 chr9 110068669 110068669 G A exonic RAD23B nonsynonymous SNV RAD23B:NM_001244713:exon4:c.G175A:p.V59M,RAD23B:NM_001244724:exon4:c.G22A:p.V8M,RAD23B:NM_002874:exon4:c.G238A:p.V80M Score=435;Name=lod=78 0.02 0.99969 C 0.97 D 0.547817 NA 0.999764 D 0.012545 N 4.57 127 43 0.253 148 0 0.000 1.2544944486959507e-13 0.674 --- 146,110,36,0.247 132,132,0,0.000 10.822 10.172 chr9 133577643 133577643 C G exonic EXOSC2 stopgain EXOSC2:NM_014285:exon7:c.C618G:p.Y206X Score=499;Name=lod=142 0.29 0.855133 N 0.892297 NA 0.711726 NA 0.999955 D 1.0 D 0.904 146 54 0.270 142 0 0.000 1.3000326407565096e-14 0.315 --- 170,121,49,0.288 129,128,0,0.000 13.392 60 chr9 139370379 139370379 A T exonic SEC16A nonsynonymous SNV SEC16A:NM_001276418:exon2:c.T1689A:p.F563L,SEC16A:NM_014866:exon3:c.T1689A:p.F563L Score=433;Name=lod=77 0 92 127 0.580 196 0 0.000 8.5645506492107037e-47 0.583 --- 193,82,111,0.575 164,164,0,0.000 38.834 60 chr9 141015160 141015160 C A exonic CACNA1B nonsynonymous SNV CACNA1B:NM_000718:exon45:c.C6316A:p.Q2106K,CACNA1B:NM_001243812:exon45:c.C6316A:p.Q2106K Score=412;Name=lod=63 0.07 68 88 0.564 149 0 0.000 1.30239278730446869e-33 0.636 --- 134,58,75,0.564 121,121,0,0.000 27.092 60 chr10 30317837 30317837 C T exonic KIAA1462 nonsynonymous SNV KIAA1462:NM_020848:exon3:c.G1240A:p.V414I ID=COSM1212191;OCCURENCE=1(large_intestine) 0.48 0.14387 N 0.52 T 0.026 B 0.285051 N 7.8E-5 N -0.933 142 47 0.249 204 0 0.000 3.84389578759110523e-17 0.574 --- 170,126,42,0.250 173,169,0,0.000 13.975 60 chr10 101458420 101458420 G A exonic ENTPD7 synonymous SNV ENTPD7:NM_020354:exon10:c.G1140A:p.V380V 108 58 0.349 216 0 0.000 1.13250091809905915e-24 0.500 --- 142,89,53,0.373 179,179,0,0.000 21.657 60 chr10 126450956 126450956 C G exonic METTL10 nonsynonymous SNV METTL10:NM_212554:exon6:c.G788C:p.G263A Score=272;Name=lod=17 0 0.946915 N 1.0 D 0.017 B 0.816072 NA 3.26E-4 N 0.799 20 13 0.394 31 0 0.000 5.93307369852175827e-05 0.308 --- 26,16,10,0.385 26,25,0,0.000 3.173 8.48 chr11 1577987 1577987 C T exonic DUSP8 nonsynonymous SNV DUSP8:NM_004420:exon7:c.G1639A:p.A547T Score=0.909206;Name=chr10:75491948 0.3 0.112712 N 0.82 T 0.0 B 0.618732 NA 0.173501 NA -5.48 34 16 0.320 52 0 0.000 2.595890788636711e-06 0.062 --- 47,32,15,0.319 40,40,0,0.000 4.522 3.466 chr11 11373503 11373503 G A exonic CSNK2A3 synonymous SNV CSNK2A3:NM_001256686:exon1:c.C1164T:p.G388G Score=492;Name=lod=133 95 41 0.301 143 0 0.000 4.19366397999779624e-15 0.829 --- 133,92,41,0.308 137,135,0,0.000 14.075 12.763 chr11 18047220 18047220 C T exonic TPH1 nonsynonymous SNV TPH1:NM_004179:exon7:c.G832A:p.V278I Score=563;Name=lod=260 0.04 0.998993 C 0.92 T 0.658 P 1.0 D 0.999754 D 5.36 95 59 0.383 162 0 0.000 3.20660167227207764e-22 0.441 --- 121,79,42,0.347 131,131,0,0.000 15.330 60 chr11 34107716 34107716 C T exonic CAPRIN1 stopgain CAPRIN1:NM_005898:exon10:c.C1072T:p.R358X,CAPRIN1:NM_203364:exon10:c.C1072T:p.R358X Score=643;Name=lod=545 0.91 0.945302 N 0.899499 NA 0.726562 NA 0.999988 D 1.0 A 3.35 66 28 0.298 95 0 0.000 2.9760999053282159e-10 0.357 --- 80,52,28,0.350 78,78,0,0.000 9.357 13.913 chr11 59132749 59132749 G T exonic OR5AN1 nonsynonymous SNV OR5AN1:NM_001004729:exon1:c.G818T:p.R273I 0 0.988225 C 1.0 D 0.999 D 0.996506 N 0.355616 N 2.51 59 30 0.337 98 0 0.000 9.73722372919172113e-12 0.400 --- 70,47,23,0.329 81,81,0,0.000 8.684 60 chr11 62933697 62933697 A C exonic SLC22A25 synonymous SNV SLC22A25:NM_199352:exon7:c.T1104G:p.T368T 168 80 0.323 244 0 0.000 9.79448056160298925e-28 0.450 --- 212,146,66,0.311 203,203,0,0.000 21.799 60 chr11 72407634 72407634 T G exonic ARAP1 nonsynonymous SNV ARAP1:NM_001135190:exon20:c.A2314C:p.N772H,ARAP1:NM_015242:exon21:c.A2497C:p.N833H,ARAP1:NM_001040118:exon23:c.A3232C:p.N1078H Score=412;Name=lod=63 0 0.994112 C 0.92 T 0.812 P 1.0 D 0.729692 D 4.16 98 20 0.169 108 0 0.000 1.11825077375133358e-06 0.000 --- 127,94,32,0.254 88,88,0,0.000 7.886 9.752 chr11 78369783 78369783 C T exonic TENM4 nonsynonymous SNV TENM4:NM_001098816:exon34:c.G7630A:p.G2544S Score=633;Name=lod=498 0.53 137 63 0.315 193 0 0.000 1.15096680042031619e-21 0.429 --- 156,106,50,0.321 160,160,0,0.000 17.391 60 chr11 86209157 86209157 C A exonic ME3 nonsynonymous SNV ME3:NM_001014811:exon5:c.G553T:p.V185L,ME3:NM_001161586:exon6:c.G553T:p.V185L,ME3:NM_006680:exon6:c.G553T:p.V185L Score=608;Name=lod=393 0 0.998914 C 1.0 D 0.967 D 1.0 D 0.999971 D 5.28 97 43 0.307 143 0 0.000 1.51356960975894489e-15 0.326 --- 121,85,36,0.298 124,124,0,0.000 12.377 60 chr11 92532328 92532328 A G exonic FAT3 nonsynonymous SNV FAT3:NM_001008781:exon9:c.A6149G:p.Y2050C Score=686;Name=lod=820 0.01 122 76 0.384 236 0 0.000 7.7026901095618226e-31 0.539 --- 172,105,67,0.390 195,195,0,0.000 25.747 60 chr11 110134733 110134733 T C exonic RDX nonsynonymous SNV RDX:NM_001260496:exon4:c.A323G:p.E108G,RDX:NM_001260492:exon5:c.A419G:p.E140G,RDX:NM_001260493:exon5:c.A419G:p.E140G,RDX:NM_002906:exon5:c.A419G:p.E140G Score=684;Name=lod=804 0.05 0.997545 C 0.93 T 0.0010 B 1.0 D 0.95819 D 5.09 53 25 0.321 95 0 0.000 1.83379004434409445e-10 0.560 --- 65,43,22,0.338 75,74,1,0.013 7.148 12.779 chr12 4919540 4919540 C T exonic KCNA6 synonymous SNV KCNA6:NM_002235:exon1:c.C333T:p.N111N Score=579;Name=lod=300 201 107 0.347 281 0 0.000 1.77292617304595608e-35 0.533 --- 249,164,84,0.339 241,241,0,0.000 28.392 60 chr12 21689974 21689974 T A exonic GYS2 nonsynonymous SNV GYS2:NM_021957:exon16:c.A2026T:p.R676W Score=463;Name=lod=102 0 0.997601 C 0.98 D 0.985 D 1.0 D 0.993607 D 4.58 78 20 0.204 110 0 0.000 9.30711779603593561e-08 0.650 --- 80,62,18,0.225 83,83,0,0.000 6.039 9.954 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 83 28 0.252 130 0 0.000 4.59547834450090901e-11 0.500 --- 92,67,25,0.272 99,99,0,0.000 8.780 60 chr12 53591615 53591615 C T exonic ITGB7 nonsynonymous SNV ITGB7:NM_000889:exon4:c.G322A:p.D108N Score=349;Name=lod=35 0.89 0.964193 C 0.15 T 0.01 B 0.874812 NA 0.14834 N 2.91 115 52 0.311 142 0 0.000 1.8784912678468313e-16 0.423 --- 141,98,43,0.305 120,120,0,0.000 12.795 11.535 chr13 36158112 36158112 A C exonic NBEA synonymous SNV NBEA:NM_001204197:exon6:c.A492C:p.P164P,NBEA:NM_015678:exon46:c.A7113C:p.P2371P Score=526;Name=lod=183 115 13 0.102 116 0 0.000 0.000211619464500134855 1.000 --- 124,97,27,0.218 89,88,1,0.011 5.684 12.114 chr13 38266375 38266375 G T exonic TRPC4 nonsynonymous SNV TRPC4:NM_001135958:exon3:c.C476A:p.T159K,TRPC4:NM_001135955:exon4:c.C995A:p.T332K,TRPC4:NM_001135956:exon4:c.C995A:p.T332K,TRPC4:NM_001135957:exon4:c.C995A:p.T332K,TRPC4:NM_003306:exon4:c.C995A:p.T332K,TRPC4:NM_016179:exon4:c.C995A:p.T332K Score=461;Name=lod=100 0.07 0.999528 C 0.72 T 0.923 D 1.0 D 0.753709 D 5.07 122 110 0.474 264 0 0.000 6.39879577076037881e-45 0.455 --- 191,100,91,0.476 213,213,0,0.000 36.110 60 chr13 111358416 111358416 C G exonic CARS2 nonsynonymous SNV CARS2:NM_024537:exon1:c.G25C:p.G9R 0 0.005794 N 1.0 D 0.263179 NA 4.7E-5 N 0.025781 N -6.52 103 35 0.254 109 0 0.000 1.78028042136259852e-10 0.257 --- 125,93,32,0.256 90,90,0,0.000 8.300 11.856 chr13 111371617 111371617 C T exonic ING1 nonsynonymous SNV ING1:NM_001267728:exon2:c.C127T:p.R43C,ING1:NM_005537:exon2:c.C607T:p.R203C,ING1:NM_198217:exon2:c.C46T:p.R16C,ING1:NM_198219:exon2:c.C178T:p.R60C Score=374;Name=lod=44 0 0.998218 C 1.0 D 0.987 D 0.999994 D 0.99622 D 4.81 143 66 0.316 174 0 0.000 1.81045077286667023e-20 0.621 --- 177,123,54,0.305 149,149,0,0.000 16.207 60 chr15 65369962 65369962 C T exonic KBTBD13 nonsynonymous SNV KBTBD13:NM_001101362:exon1:c.C809T:p.T270M 0.23 147 64 0.303 206 0 0.000 5.04259726951627042e-22 0.500 --- 188,126,62,0.330 181,181,0,0.000 20.715 60 chr15 75116699 75116699 C A exonic LMAN1L nonsynonymous SNV LMAN1L:NM_021819:exon13:c.C1331A:p.A444E 0.04 0.791085 N 0.69 T 0.243 P 0.38891 N 0.066541 N -0.00917 55 29 0.345 123 0 0.000 1.40409163064120646e-13 0.759 --- 73,47,26,0.356 98,98,0,0.000 10.950 60 chr15 80460437 80460437 G A exonic FAH nonsynonymous SNV FAH:NM_000137:exon6:c.G499A:p.V167M Score=391;Name=lod=52 0.000077 rs146477982 0.03 0.98844 C 1.0 D 0.025 B 0.999952 D 0.99995 D 3.67 38 66 0.635 104 0 0.000 4.40256424080231339e-27 0.682 --- 88,31,57,0.648 87,87,0,0.000 22.896 60 chr16 1035247 1035247 G A exonic SOX8 nonsynonymous SNV SOX8:NM_014587:exon3:c.G1202A:p.G401D Score=489;Name=lod=129 0.02 0.998977 C 0.96 D 0.135 B 0.999809 D 0.730824 D 3.96 125 90 0.419 197 0 0.000 6.30483177715971275e-31 0.478 --- 186,111,75,0.403 160,160,0,0.000 23.930 60 chr16 1717388 1717388 C A exonic CRAMP1L nonsynonymous SNV CRAMP1L:NM_020825:exon16:c.C3089A:p.A1030E 0 50 14 0.219 68 0 0.000 1.74770963965892337e-05 0.500 --- 50,37,13,0.260 52,52,0,0.000 4.421 8.838 chr16 3139972 3139972 C T exonic ZSCAN10 nonsynonymous SNV ZSCAN10:NM_032805:exon5:c.G1298A:p.R433H Score=389;Name=lod=51 0.16 0.974825 C 0.97 D 0.075 B 0.998601 N 0.247917 N 2.01 178 97 0.353 257 0 0.000 7.42443246854383967e-33 0.505 --- 236,154,82,0.347 212,212,0,0.000 26.284 60 chr16 4927080 4927080 C T exonic UBN1 nonsynonymous SNV UBN1:NM_016936:exon15:c.C3233T:p.A1078V,UBN1:NM_001079514:exon16:c.C3233T:p.A1078V Score=383;Name=lod=48 0 0.99922 C 1.0 D 0.891 D 0.999606 D 0.138574 N 5.06 130 74 0.363 209 0 0.000 5.71651155429839778e-27 0.486 --- 176,111,65,0.369 170,170,0,0.000 22.174 60 chr16 9857538 9857538 C T exonic GRIN2A nonsynonymous SNV GRIN2A:NM_001134407:exon13:c.G3863A:p.R1288H,GRIN2A:NM_000833:exon14:c.G3863A:p.R1288H Score=570;Name=lod=276 ID=COSM1380653;OCCURENCE=1(large_intestine) 0 0.998883 C 1.0 D 0.999 D 1.0 D 0.993719 D 5.26 98 41 0.295 137 0 0.000 2.91498878354882299e-14 0.561 --- 122,85,36,0.298 114,114,0,0.000 11.640 60 chr16 20994145 20994145 C T exonic DNAH3 nonsynonymous SNV DNAH3:NM_017539:exon49:c.G7757A:p.C2586Y Score=572;Name=lod=282 0.000154 rs138171276 0 0.999009 C 1.0 D 0.999 D 0.999949 D 0.995765 D 5.37 97 26 0.211 117 0 0.000 8.25524034545605129e-09 0.615 --- 96,73,23,0.240 87,87,0,0.000 7.032 6.784 chr16 30094767 30094767 A G exonic PPP4C nonsynonymous SNV PPP4C:NM_002720:exon6:c.A356G:p.Q119R Score=600;Name=lod=365 0 0.998974 C 1.0 D 0.988 D 1.0 D 0.999925 D 5.48 128 44 0.256 187 0 0.000 3.25569116208011257e-16 0.705 --- 152,113,39,0.257 149,148,0,0.000 12.602 60 chr16 46702840 46702840 A G splicing VPS35 NM_018206:exon14:c.1647+2T>C Score=585;Name=lod=318 85 56 0.397 158 0 0.000 3.80760424371487053e-22 0.607 --- 115,71,44,0.383 131,131,0,0.000 16.886 60 chr16 67576090 67576090 C T exonic FAM65A synonymous SNV FAM65A:NM_001193522:exon13:c.C1413T:p.A471A,FAM65A:NM_001193523:exon13:c.C1461T:p.A487A,FAM65A:NM_001193524:exon13:c.C1443T:p.A481A,FAM65A:NM_024519:exon13:c.C1401T:p.A467A 0.000077 rs138621415 163 75 0.315 213 0 0.000 2.78239677881946577e-24 0.533 --- 215,143,71,0.332 186,186,0,0.000 22.109 60 chr17 7826808 7826808 G A exonic KCNAB3 nonsynonymous SNV KCNAB3:NM_004732:exon13:c.C1103T:p.A368V 0.09 0.909641 N 0.91 T 0.0 B 0.966051 N 0.806689 D -0.555 84 44 0.344 126 0 0.000 1.33888096598079619e-15 0.636 --- 110,72,38,0.345 99,99,0,0.000 12.023 60 chr17 7948227 7948227 C T exonic ALOX15B nonsynonymous SNV ALOX15B:NM_001039130:exon6:c.C757T:p.R253C,ALOX15B:NM_001039131:exon6:c.C757T:p.R253C,ALOX15B:NM_001141:exon6:c.C757T:p.R253C 0.000077 rs147889634 0.11 0.994299 C 0.9 T 0.302 P 0.993446 N 0.996848 D 1.11 129 43 0.250 162 0 0.000 2.29413915169108947e-14 0.465 --- 135,98,37,0.274 128,128,0,0.000 11.887 60 chr17 25910073 25910073 C T exonic KSR1 nonsynonymous SNV KSR1:NM_014238:exon5:c.C511T:p.R171W Score=610;Name=lod=402 0 84 36 0.300 145 0 0.000 1.41285098878877764e-14 0.111 --- 116,76,39,0.339 135,135,0,0.000 14.970 12.065 chr17 34340291 34340291 C T exonic CCL23 synonymous SNV CCL23:NM_005064:exon4:c.G360A:p.Q120Q,CCL23:NM_145898:exon4:c.G309A:p.Q103Q 53 12 0.185 80 0 0.000 3.56543102002020701e-05 0.583 --- 58,48,9,0.158 60,60,0,0.000 2.963 6.616 chr17 39262185 39262185 G A exonic KRTAP4-9 nonsynonymous SNV KRTAP4-9:NM_001146041:exon1:c.G545A:p.R182Q Score=0.945624;Name=chr17:39237388 0.23 423 123 0.225 614 0 0.000 1.5402149589618634e-44 0.439 --- 443,331,111,0.251 484,484,0,0.000 39.240 14.214 chr17 39925282 39925282 G A exonic JUP nonsynonymous SNV JUP:NM_002230:exon4:c.C646T:p.R216W,JUP:NM_021991:exon4:c.C646T:p.R216W Score=588;Name=lod=328 0 0.999762 C 1.0 D 0.999 D 1.0 D 0.998087 D 5.59 99 39 0.283 125 0 0.000 9.99228225466815075e-13 0.641 --- 122,89,33,0.270 107,107,0,0.000 9.919 60 chr17 47785181 47785181 G A exonic SLC35B1 synonymous SNV SLC35B1:NM_005827:exon1:c.C15T:p.S5S Score=664;Name=lod=667 159 61 0.277 198 0 0.000 1.04510151573568733e-19 0.426 --- 165,118,47,0.285 147,147,0,0.000 14.525 12.064 chr17 74382382 74382382 G A exonic SPHK1 nonsynonymous SNV SPHK1:NM_001142602:exon3:c.G244A:p.G82R,SPHK1:NM_001142601:exon4:c.G244A:p.G82R,SPHK1:NM_021972:exon4:c.G286A:p.G96R,SPHK1:NM_182965:exon4:c.G502A:p.G168R Score=471;Name=lod=109 0 0.98581 C 1.0 D 0.999 D 1.0 D 0.99993 D 3.32 144 66 0.314 185 0 0.000 3.19601032157113e-21 0.485 --- 177,121,56,0.316 150,150,0,0.000 16.979 60 chr18 31319372 31319372 T G exonic ASXL3 synonymous SNV ASXL3:NM_030632:exon11:c.T2004G:p.T668T Score=547;Name=lod=222 60 63 0.512 189 0 0.000 8.98002381680132483e-32 0.476 --- 105,51,54,0.514 164,164,0,0.000 26.882 60 chr18 48604788 48604788 A G exonic SMAD4 nonsynonymous SNV SMAD4:NM_005359:exon12:c.A1610G:p.D537G Score=588;Name=lod=326 ID=COSM168813;OCCURENCE=1(large_intestine) 0 0.999208 C 1.0 D 0.999 D 1.0 D 0.999984 D 5.72 23 31 0.574 106 0 0.000 9.42143717225362387e-19 0.355 --- 43,18,25,0.581 87,87,0,0.000 14.802 60 chr18 77171121 77171121 G A exonic NFATC1 synonymous SNV NFATC1:NM_006162:exon2:c.G846A:p.S282S,NFATC1:NM_172387:exon2:c.G807A:p.S269S,NFATC1:NM_172389:exon2:c.G807A:p.S269S,NFATC1:NM_172390:exon2:c.G846A:p.S282S ID=COSM1389851;OCCURENCE=1(large_intestine) 80 99 0.553 279 1 0.004 3.34475039509798196e-49 0.535 1.000 163,70,92,0.568 247,246,1,0.004 44.586 60 chr19 929574 929574 C T exonic ARID3A nonsynonymous SNV ARID3A:NM_005224:exon2:c.C46T:p.R16W Score=560;Name=lod=251 0 0.238765 N 1.0 D 0.697005 NA 0.996806 U 0.998963 D -0.747 141 86 0.379 196 0 0.000 5.43069487354936198e-28 0.570 --- 186,119,65,0.353 158,158,0,0.000 20.271 7.218 chr19 4491786 4491786 C T exonic HDGFRP2 nonsynonymous SNV HDGFRP2:NM_001001520:exon6:c.C632T:p.A211V,HDGFRP2:NM_032631:exon6:c.C632T:p.A211V 0.000166 0.4 0.82901 N 0.0 T 0.0 B 0.887169 N 4.27E-4 N 3.01 63 20 0.241 96 0 0.000 5.25418186513305375e-08 0.350 --- 74,54,20,0.270 87,87,0,0.000 7.446 13.117 chr19 4544383 4544383 G A exonic SEMA6B nonsynonymous SNV SEMA6B:NM_032108:exon17:c.C1897T:p.R633C Score=634;Name=lod=502 0.02 0.993439 C 0.98 D 0.998 D 0.123404 U 0.074597 N 2.58 121 64 0.346 184 0 0.000 1.43799890829068044e-22 0.641 --- 158,102,56,0.354 157,157,0,0.000 19.144 60 chr19 8670150 8670150 G A exonic ADAMTS10 nonsynonymous SNV ADAMTS10:NM_030957:exon4:c.C182T:p.P61L Score=429;Name=lod=74 0.57 0.945679 N 0.61 T 0.013 B 0.730158 N 8.05E-4 N 2.09 123 64 0.342 222 0 0.000 1.52313499170164971e-25 0.375 --- 161,105,56,0.348 177,177,0,0.000 20.676 60 chr19 9045927 9045927 G T exonic MUC16 nonsynonymous SNV MUC16:NM_024690:exon5:c.C35704A:p.L11902I 0.27 96 58 0.377 187 0 0.000 6.73738235436763237e-24 0.534 --- 137,85,52,0.380 157,156,1,0.006 18.479 60 chr19 10397776 10397776 C T exonic ICAM4 nonsynonymous SNV ICAM4:NM_001039132:exon1:c.C88T:p.R30W,ICAM4:NM_001544:exon1:c.C88T:p.R30W,ICAM4:NM_022377:exon1:c.C88T:p.R30W 0 0.101384 N 1.0 D 0.854 D 0.009513 N 0.0306 N -0.984 111 59 0.347 110 0 0.000 1.9766430267197308e-15 0.542 --- 143,93,50,0.350 92,92,0,0.000 12.285 15.955 chr19 36351519 36351519 T G exonic KIRREL2 nonsynonymous SNV KIRREL2:NM_199179:exon6:c.T728G:p.V243G,KIRREL2:NM_032123:exon7:c.T878G:p.V293G,KIRREL2:NM_199180:exon7:c.T878G:p.V293G Score=562;Name=lod=256 0 0.99545 C 1.0 D 0.616 P 0.982291 N 0.344292 N 3.05 133 67 0.335 186 0 0.000 1.50912834670133854e-22 0.537 --- 170,112,56,0.333 151,150,0,0.000 17.774 8.347 chr19 36365557 36365557 C T exonic APLP1 nonsynonymous SNV APLP1:NM_001024807:exon9:c.C1208T:p.P403L,APLP1:NM_005166:exon9:c.C1208T:p.P403L ID=COSM1245188;OCCURENCE=1(oesophagus) 0.02 0.946915 N 1.0 D 0.0 B 0.836402 N 0.999965 D 1.79 160 92 0.365 241 0 0.000 1.31474043670666209e-31 0.511 --- 224,140,83,0.372 208,207,0,0.000 27.603 60 chr19 42599461 42599461 G A exonic POU2F2 nonsynonymous SNV POU2F2:NM_001207025:exon11:c.C1108T:p.P370S,POU2F2:NM_001207026:exon11:c.C1108T:p.P370S,POU2F2:NM_001247994:exon11:c.C1060T:p.P354S,POU2F2:NM_002698:exon11:c.C1060T:p.P354S Score=696;Name=lod=901 0.47 0.998868 C 0.81 T 0.73 P 0.947373 N 0.913488 D 3.32 142 70 0.330 238 0 0.000 9.56385736991302152e-27 0.671 --- 188,126,62,0.330 199,198,0,0.000 22.062 60 chr19 45644679 45644679 G T exonic PPP1R37 nonsynonymous SNV PPP1R37:NM_019121:exon5:c.G547T:p.A183S Score=289;Name=lod=20 0.06 111 48 0.302 167 0 0.000 1.47971874319932102e-17 0.583 --- 134,93,41,0.306 138,138,0,0.000 14.202 60 chr19 52249323 52249323 G A exonic FPR1 nonsynonymous SNV FPR1:NM_002029:exon2:c.C925T:p.R309W,FPR1:NM_001193306:exon3:c.C925T:p.R309W Score=483;Name=lod=123 0 0.962158 C 1.0 D 0.999 D 0.999837 D 0.56011 D 0.974 85 39 0.315 154 0 0.000 4.22075942020871611e-16 0.513 --- 108,76,32,0.296 122,122,0,0.000 11.746 60 chr20 25493613 25493613 C T exonic NINL nonsynonymous SNV NINL:NM_025176:exon4:c.G307A:p.V103M Score=333;Name=lod=30 0.25 0.830578 N 0.79 T 0.036 B 0.999611 N 0.184067 N 0.475 93 84 0.475 143 0 0.000 1.89277155046677188e-27 0.274 --- 156,79,76,0.490 121,121,0,0.000 23.714 60 chr20 37272481 37272481 G A exonic ARHGAP40 synonymous SNV ARHGAP40:NM_001164431:exon11:c.G1494A:p.K498K Score=621;Name=lod=444 134 133 0.498 217 0 0.000 7.65678017654783218e-44 0.504 --- 216,107,109,0.505 173,172,0,0.000 34.789 60 chr20 39831472 39831472 A G exonic ZHX3 synonymous SNV ZHX3:NM_015035:exon3:c.T2085C:p.D695D 228 70 0.235 261 0 0.000 1.15088365469707468e-21 0.500 --- 267,206,60,0.226 214,211,0,0.000 16.490 60 chr20 42788824 42788824 C T exonic JPH2 synonymous SNV JPH2:NM_020433:exon2:c.G603A:p.A201A Score=519;Name=lod=171 75 66 0.468 110 0 0.000 4.52016411241272481e-21 0.576 --- 126,66,60,0.476 100,100,0,0.000 18.820 60 chr21 40596347 40596347 T C exonic BRWD1 synonymous SNV BRWD1:NM_018963:exon29:c.A3369G:p.P1123P,BRWD1:NM_033656:exon29:c.A3369G:p.P1123P Score=601;Name=lod=370 45 21 0.318 68 0 0.000 5.0945355353731589e-08 0.476 --- 49,34,15,0.306 50,49,0,0.000 4.763 7.713 chr21 44480559 44480559 C A exonic CBS synonymous SNV CBS:NM_000071:exon12:c.G1137T:p.R379R,CBS:NM_001178008:exon12:c.G1137T:p.R379R,CBS:NM_001178009:exon12:c.G1137T:p.R379R Score=472;Name=lod=111 52 34 0.395 105 0 0.000 1.90551250206097941e-14 0.471 --- 69,44,25,0.362 78,78,0,0.000 9.434 60 chr21 47360027 47360027 C T exonic PCBP3 synonymous SNV PCBP3:NM_001130141:exon12:c.C915T:p.N305N,PCBP3:NM_020528:exon13:c.C993T:p.N331N 0.000157 0.0005 ID=COSM1414527,COSM1414528;OCCURENCE=1(large_intestine) rs114536865 102 13 0.113 112 0 0.000 0.000172265746209408036 0.462 --- 89,78,11,0.124 85,84,0,0.000 3.135 7.743 chr21 47845817 47845817 G A exonic PCNT nonsynonymous SNV PCNT:NM_006031:exon33:c.G7252A:p.G2418S rs201389292 0.12 0.942592 N 0.84 T 0.078 B 0.848985 NA 0.172504 N 1.85 65 62 0.488 147 0 0.000 4.70714232213839227e-26 0.581 --- 105,54,51,0.486 115,114,0,0.000 19.943 60 chr22 26879908 26879908 C T exonic SRRD nonsynonymous SNV SRRD:NM_001013694:exon1:c.C52T:p.R18W 0 0.885457 N 1.0 D 0.554358 NA 0.999608 D 0.028162 N 0.322 146 84 0.365 171 0 0.000 2.6393019087684947e-24 0.631 --- 175,106,68,0.391 137,137,0,0.000 20.161 11.113 chr22 42522646 42522646 G T exonic CYP2D6 nonsynonymous SNV CYP2D6:NM_001025161:exon8:c.C1271A:p.P424H,CYP2D6:NM_000106:exon9:c.C1424A:p.P475H Score=265;Name=lod=16 Score=0.964262;Name=chr22:42531352 0 0.998849 C 1.0 D 0.999 D 0.999999 D 0.962093 D 4.4 115 62 0.350 210 0 0.000 7.6664953555982662e-25 0.452 --- 145,95,49,0.340 163,163,0,0.000 18.381 15.654 chrX 8998345 8998345 T C exonic FAM9B nonsynonymous SNV FAM9B:NM_205849:exon4:c.A238G:p.K80E Score=0.901004;Name=chrX:8752591 0.13 0.066676 N 0.26 T 0.0010 B 0.603035 NA 5.0E-6 N -0.835 97 25 0.205 99 0 0.000 1.15157747545338853e-07 0.600 --- 100,77,23,0.230 88,88,0,0.000 6.873 10.73 chrX 9656135 9656135 C T exonic TBL1X nonsynonymous SNV TBL1X:NM_001139467:exon6:c.C283T:p.R95W,TBL1X:NM_001139466:exon7:c.C436T:p.R146W,TBL1X:NM_001139468:exon7:c.C283T:p.R95W,TBL1X:NM_005647:exon7:c.C436T:p.R146W Score=495;Name=lod=137 0 0.947884 N 1.0 D 0.992 D 1.0 D 0.973256 D 3.0 272 85 0.238 265 0 0.000 2.59742586157011825e-23 0.471 --- 307,228,77,0.252 219,219,0,0.000 19.929 60 chrX 12905638 12905638 G T exonic TLR7 nonsynonymous SNV TLR7:NM_016562:exon3:c.G2011T:p.D671Y Score=361;Name=lod=39 0.37 0.781239 N 0.97 D 0.688 P 0.710231 N 0.075225 N 1.11 116 25 0.177 111 0 0.000 1.8629360902119197e-07 0.440 --- 125,100,25,0.200 96,96,0,0.000 6.506 11.61 chrX 16859850 16859850 G A exonic TXLNG synonymous SNV TXLNG:NM_001168683:exon8:c.G1152A:p.P384P,TXLNG:NM_018360:exon10:c.G1548A:p.P516P 199 78 0.282 224 0 0.000 2.96101102556807848e-23 0.397 --- 232,168,64,0.276 182,181,0,0.000 17.945 60 chrX 46433646 46433646 G A exonic CHST7 nonsynonymous SNV CHST7:NM_019886:exon1:c.G280A:p.G94R Score=243;Name=lod=13 0.54 0.926723 N 0.9 T 0.0 B 0.859704 N 0.088966 N -0.663 192 55 0.223 192 0 0.000 1.31415071318476499e-15 0.509 --- 210,163,47,0.224 162,162,0,0.000 12.743 60 chrX 47069442 47069442 G A exonic UBA1 nonsynonymous SNV UBA1:NM_003334:exon18:c.G2119A:p.V707M,UBA1:NM_153280:exon18:c.G2119A:p.V707M Score=646;Name=lod=564 0 0.999482 C 1.0 D 0.774 P 0.999998 D 0.997623 D 3.92 194 52 0.211 183 1 0.005 6.52195155594012056e-13 0.519 0.000 196,156,40,0.204 147,146,1,0.007 9.060 60 chrX 47511288 47511288 T C exonic UXT nonsynonymous SNV UXT:NM_153477:exon6:c.A463G:p.R155G,UXT:NM_004182:exon7:c.A427G:p.R143G Score=422;Name=lod=69 0 0.960192 C 0.98 D 0.668763 NA 0.999995 N 0.540608 D 2.25 153 41 0.211 150 0 0.000 1.07425960267196143e-11 0.512 --- 151,120,31,0.205 117,117,0,0.000 8.305 7.925 chrX 48935556 48935556 C T exonic WDR45 nonsynonymous SNV WDR45:NM_001029896:exon3:c.G70A:p.A24T,WDR45:NM_007075:exon4:c.G70A:p.A24T Score=617;Name=lod=429 0 rs187104097 0.01 0.996973 C 1.0 D 0.303 P 1.0 D 0.627962 NA 4.0 186 41 0.181 149 0 0.000 2.3172318672642234e-10 0.439 --- 201,164,37,0.184 134,134,0,0.000 8.634 9.946 chrX 63411366 63411366 G A exonic AMER1 stopgain AMER1:NM_152424:exon2:c.C1801T:p.R601X ID=COSM193863,COSM193862;OCCURENCE=1(large_intestine) 1 0.832131 N 0.900124 NA 0.602334 NA 0.400649 N 1.0 A -0.856 165 202 0.550 277 0 0.000 6.74499303378784232e-65 0.510 --- 315,140,174,0.554 244,244,0,0.000 56.554 60 chrX 99662276 99662276 G A exonic PCDH19 synonymous SNV PCDH19:NM_001105243:exon1:c.C1320T:p.T440T,PCDH19:NM_001184880:exon1:c.C1320T:p.T440T,PCDH19:NM_020766:exon1:c.C1320T:p.T440T ID=COSM1126591;OCCURENCE=1(endometrium) 197 79 0.286 227 0 0.000 7.83956405778596566e-24 0.468 --- 237,169,68,0.287 197,197,0,0.000 20.061 60 chrX 99848987 99848987 C T exonic TNMD synonymous SNV TNMD:NM_022144:exon3:c.C276T:p.S92S Score=585;Name=lod=318 121 39 0.244 91 0 0.000 5.7180406287646974e-09 0.538 --- 128,98,29,0.228 77,77,0,0.000 6.415 60 chrX 102332664 102332664 C T exonic NXF3 nonsynonymous SNV NXF3:NM_022052:exon18:c.G1462A:p.V488M Score=383;Name=lod=48 0 6.92E-4 N 0.703723 NA 0.235864 NA 0.779016 N 6.7E-5 N -8.25 111 43 0.279 111 0 0.000 4.54384707465550639e-12 0.279 --- 133,97,36,0.271 93,93,0,0.000 9.174 60 chrX 136112667 136112667 C T exonic GPR101 synonymous SNV GPR101:NM_054021:exon1:c.G1167A:p.L389L Score=595;Name=lod=349 168 37 0.180 169 0 0.000 6.80347442509536379e-11 0.459 --- 186,153,33,0.177 148,148,0,0.000 8.871 13.759 chrX 151936062 151936062 C A exonic MAGEA3 nonsynonymous SNV MAGEA3:NM_005362:exon3:c.G105T:p.E35D Score=0.991089;Name=chrX:151847040 0.01 0.15775 N 0.97 D 0.988 D 0.001987 N 1.0 D -1.11 43 10 0.189 52 0 0.000 0.00122429847400142448 0.000 --- 54,44,10,0.185 53,53,0,0.000 2.908 3.098 chrX 153995631 153995631 T C exonic DKC1 nonsynonymous SNV DKC1:NM_001142463:exon7:c.T614C:p.I205T,DKC1:NM_001363:exon7:c.T614C:p.I205T Score=428;Name=lod=73 0 0.998151 C 0.99 D 0.062 B 0.975948 N 0.996265 D 5.4 148 45 0.233 144 0 0.000 1.51225772601205413e-12 0.467 --- 151,114,36,0.240 108,108,0,0.000 9.063 60