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 892298 892298 A T exonic NOC2L synonymous SNV NOC2L:NM_015658:exon4:c.T462A:p.V154V Score=336;Name=lod=31 Score=0.910643;Name=chr2:130985659 109 51 0.319 212 0 0.000 9.48610936229270188e-22 0.510 --- 146,94,51,0.352 184,183,0,0.000 20.658 10.213 chr1 31425169 31425169 C T exonic PUM1 nonsynonymous SNV PUM1:NM_001020658:exon16:c.G2633A:p.R878H,PUM1:NM_014676:exon16:c.G2633A:p.R878H Score=645;Name=lod=556 0 0.99908 C 1.0 D 0.999 D 1.0 D 0.999982 D 4.9 43 41 0.488 128 0 0.000 1.43818407466880555e-20 0.512 --- 68,34,34,0.500 101,101,0,0.000 16.276 60 chr1 50163029 50163029 G A exonic AGBL4 stopgain AGBL4:NM_032785:exon3:c.C238T:p.R80X Score=621;Name=lod=445 1 39 75 0.658 174 0 0.000 1.74702801973505885e-40 0.467 --- 88,34,54,0.614 130,130,0,0.000 27.361 60 chr1 54683887 54683887 A T exonic MRPL37 stopgain MRPL37:NM_016491:exon7:c.A1237T:p.K413X Score=492;Name=lod=133 0.03 0.998507 C 0.9037 NA 0.735198 NA 1.0 D 0.999606 D 4.59 99 59 0.373 142 0 0.000 6.60592543423949003e-20 0.780 --- 134,83,51,0.381 121,121,0,0.000 16.646 60 chr1 55474144 55474144 G A exonic BSND nonsynonymous SNV BSND:NM_057176:exon4:c.G806A:p.R269Q rs199832638 0.38 4.86E-4 N 0.6 T 0.0010 B 0.052812 N 1.0E-5 N -7.85 167 110 0.397 252 0 0.000 2.79411436493257625e-37 0.509 --- 231,139,92,0.398 215,214,0,0.000 30.972 60 chr1 153660684 153660684 C T exonic NPR1 nonsynonymous SNV NPR1:NM_000906:exon15:c.C2404T:p.R802C Score=525;Name=lod=182 0.000077 0.04 0.968525 C 0.95 T 0.358 P 0.999997 D 0.999976 D 2.29 94 47 0.333 153 0 0.000 8.27988849301481669e-18 0.383 --- 115,75,40,0.348 122,122,0,0.000 14.402 60 chr1 158056537 158056537 G A splicing KIRREL NM_018240:exon5:c.661+1G>A Score=466;Name=lod=104 63 20 0.241 93 0 0.000 7.51272578045276036e-08 0.500 --- 88,59,26,0.306 97,97,0,0.000 9.640 9.286 chr2 11732961 11732961 G A exonic GREB1 nonsynonymous SNV GREB1:NM_014668:exon11:c.G1405A:p.E469K Score=371;Name=lod=43 0.01 0.98294 C 0.795054 NA 0.475662 NA 0.999992 D 0.132688 N 3.39 99 26 0.208 144 0 0.000 4.71336734163873121e-10 0.615 --- 105,84,21,0.200 122,122,0,0.000 7.549 11.32 chr2 33745683 33745683 G A exonic RASGRP3 synonymous SNV RASGRP3:NM_015376:exon5:c.G300A:p.E100E,RASGRP3:NM_001139488:exon6:c.G300A:p.E100E,RASGRP3:NM_170672:exon7:c.G300A:p.E100E Score=576;Name=lod=291 155 36 0.188 172 0 0.000 2.87367887926631326e-11 0.472 --- 149,118,30,0.203 139,139,0,0.000 9.267 60 chr2 38525580 38525580 G A exonic ATL2 synonymous SNV ATL2:NM_001135673:exon12:c.C1338T:p.D446D,ATL2:NM_022374:exon12:c.C1338T:p.D446D Score=625;Name=lod=464 126 68 0.351 269 0 0.000 5.46811041259208667e-30 0.426 --- 161,105,56,0.348 230,229,0,0.000 24.451 60 chr2 50758463 50758463 C T exonic NRXN1 nonsynonymous SNV NRXN1:NM_004801:exon11:c.G2249A:p.R750H,NRXN1:NM_001135659:exon12:c.G2369A:p.R790H Score=519;Name=lod=172 rs200776618 0 104 51 0.329 144 0 0.000 4.44561551462937756e-17 0.490 --- 119,82,37,0.311 110,110,0,0.000 11.896 60 chr2 70315174 70315174 T A exonic PCBP1 nonsynonymous SNV PCBP1:NM_006196:exon1:c.T299A:p.L100Q Score=758;Name=lod=1610 ID=COSM287208;OCCURENCE=5(large_intestine) 0 0.997596 C 1.0 D 0.993 D 0.999453 U 0.775159 D 4.03 139 98 0.414 233 0 0.000 2.541121671497806e-35 0.673 --- 208,122,86,0.413 199,199,0,0.000 29.828 60 chr2 179529617 179529617 G C exonic TTN nonsynonymous SNV TTN:NM_001267550:exon166:c.C36080G:p.T12027R Score=304;Name=lod=23 0.51 110 45 0.290 169 0 0.000 7.89094208645755944e-17 0.356 --- 118,81,37,0.314 131,131,0,0.000 13.529 60 chr2 204599565 204599565 G A exonic CD28 nonsynonymous SNV CD28:NM_001243078:exon3:c.G236A:p.R79H,CD28:NM_001243077:exon4:c.G302A:p.R101H,CD28:NM_006139:exon4:c.G593A:p.R198H ID=COSM243564;OCCURENCE=1(prostate) rs199647272 0.14 0.944157 N 0.89 T 0.02 B 0.927152 N 0.494887 NA 2.79 106 46 0.303 164 0 0.000 3.70616929556107913e-17 0.652 --- 120,78,42,0.350 124,124,0,0.000 14.871 60 chr2 207823064 207823064 A G exonic CPO nonsynonymous SNV CPO:NM_173077:exon4:c.A307G:p.M103V Score=550;Name=lod=230 0.06 0.972205 C 0.95 T 0.876 D 1.0 D 0.677367 D 3.42 38 22 0.367 71 0 0.000 2.71153295770750644e-09 0.500 --- 42,27,15,0.357 53,52,0,0.000 5.974 60 chr2 233246019 233246019 C T exonic ALPP synonymous SNV ALPP:NM_001632:exon10:c.C1251T:p.N417N Score=369;Name=lod=42 Score=0.916371;Name=chr2:233267138 0.0082 207 28 0.119 265 0 0.000 2.66517376397402236e-10 0.750 --- 193,168,24,0.125 221,220,0,0.000 8.313 11.262 chr2 237028858 237028858 C T exonic AGAP1 nonsynonymous SNV AGAP1:NM_014914:exon16:c.C1978T:p.R660C,AGAP1:NM_001037131:exon17:c.C2137T:p.R713C Score=599;Name=lod=361 0 0.995595 C 1.0 D 1.0 D 0.999998 D 0.999985 D 3.99 109 60 0.355 229 0 0.000 3.26130932653550888e-26 0.717 --- 143,92,51,0.357 189,189,0,0.000 21.327 60 chr3 38889156 38889156 G A exonic SCN11A nonsynonymous SNV SCN11A:NM_014139:exon26:c.C4405T:p.R1469W Score=401;Name=lod=57 0 0.965567 C 1.0 D 0.999 D 1.0 D 0.983258 D 3.08 75 20 0.211 163 0 0.000 5.19157802498557841e-10 0.550 --- 81,64,17,0.210 128,127,0,0.000 7.455 12.485 chr3 45714195 45714195 T G exonic LIMD1 nonsynonymous SNV LIMD1:NM_014240:exon5:c.T1655G:p.L552R Score=560;Name=lod=251 0 0.998238 C 0.98 D 0.979 D 0.999998 D 0.995715 D 5.44 41 27 0.397 145 0 0.000 5.63797853986260329e-16 0.667 --- 58,34,23,0.404 121,119,2,0.017 10.706 11.368 chr3 78667090 78667090 G A exonic ROBO1 nonsynonymous SNV ROBO1:NM_001145845:exon25:c.C3677T:p.A1226V,ROBO1:NM_133631:exon25:c.C3842T:p.A1281V,ROBO1:NM_002941:exon27:c.C3977T:p.A1326V Score=340;Name=lod=32 ID=COSM273673,COSM273674,COSM273675;OCCURENCE=1(large_intestine) 1 158 84 0.347 299 0 0.000 2.97408401840712996e-34 0.345 --- 197,123,72,0.369 241,241,0,0.000 29.016 60 chr3 101540646 101540646 C T exonic NXPE3 nonsynonymous SNV NXPE3:NM_001134456:exon8:c.C1528T:p.R510W,NXPE3:NM_145037:exon8:c.C1528T:p.R510W Score=488;Name=lod=128 0 0.987412 C 1.0 D 1.0 D 1.0 D 0.996634 D 3.47 142 37 0.207 175 0 0.000 1.96996436462744579e-12 0.432 --- 160,124,36,0.225 157,157,0,0.000 11.480 60 chr3 123010014 123010014 G A exonic ADCY5 synonymous SNV ADCY5:NM_001199642:exon18:c.C2223T:p.N741N,ADCY5:NM_183357:exon18:c.C3273T:p.N1091N Score=619;Name=lod=437 0.000077 rs139954925 123 81 0.397 273 0 0.000 1.62032410891950488e-35 0.580 --- 178,104,74,0.416 224,223,0,0.000 30.728 60 chr3 130285897 130285897 C A exonic COL6A6 nonsynonymous SNV COL6A6:NM_001102608:exon4:c.C1634A:p.T545K Score=352;Name=lod=36 0 114 68 0.374 235 1 0.004 2.24708498176716093e-27 0.485 0.000 151,96,55,0.364 187,186,1,0.005 20.559 60 chr3 134084727 134084727 C T exonic AMOTL2 nonsynonymous SNV AMOTL2:NM_016201:exon5:c.G1211A:p.R404H Score=381;Name=lod=47 0.001384 0.0018 ID=COSM1419228;OCCURENCE=1(large_intestine) rs139298691 0.14 0.942988 N 0.81 T 0.0010 B 0.998419 N 0.02868 N 1.7 89 55 0.382 143 0 0.000 9.05219079741778975e-20 0.382 --- 116,73,43,0.371 117,117,0,0.000 15.120 60 chr3 184295488 184295488 G A exonic EPHB3 nonsynonymous SNV EPHB3:NM_004443:exon7:c.G1522A:p.V508M Score=485;Name=lod=125 0.09 0.999413 C 0.79 T 0.134 B 0.999994 D 0.940139 D 4.92 147 88 0.374 336 0 0.000 9.50595819661496843e-40 0.511 --- 193,124,69,0.358 279,279,0,0.000 30.573 60 chr4 41984155 41984155 G A exonic DCAF4L1 nonsynonymous SNV DCAF4L1:NM_001029955:exon1:c.G346A:p.V116M Score=589;Name=lod=329 1 0.944541 N 0.0 T 0.0 B 0.999999 N 2.45E-4 N 0.638 132 89 0.403 336 0 0.000 3.18167294113047137e-42 0.528 --- 194,113,81,0.418 275,274,0,0.000 36.319 60 chr4 42526857 42526857 A G exonic ATP8A1 nonsynonymous SNV ATP8A1:NM_001105529:exon20:c.T1685C:p.V562A,ATP8A1:NM_006095:exon21:c.T1730C:p.V577A Score=397;Name=lod=55 0 0.998951 C 0.99 D 0.996 D 1.0 D 0.996779 D 4.93 42 9 0.176 77 0 0.000 0.000159595021990741884 0.222 --- 38,30,8,0.211 62,62,0,0.000 3.580 7.234 chr4 85419237 85419237 A G exonic NKX6-1 nonsynonymous SNV NKX6-1:NM_006168:exon1:c.T145C:p.S49P Score=521;Name=lod=175 0.09 0.994505 C 0.98 D 0.6 P 0.974525 NA 0.799431 D 3.35 30 34 0.531 113 0 0.000 5.26361867627021006e-19 0.971 --- 67,31,34,0.523 120,113,0,0.000 18.049 8.246 chr4 155250823 155250823 C T exonic DCHS2 nonsynonymous SNV DCHS2:NM_001142552:exon6:c.G3770A:p.R1257Q,DCHS2:NM_017639:exon11:c.G2405A:p.R802Q 0.5 0.034992 N 0.94 T 0.0030 B 0.883907 N 0.028886 N -1.33 37 42 0.532 160 0 0.000 3.83781270365930667e-25 0.357 --- 70,33,37,0.529 134,133,0,0.000 20.719 14.292 chr5 80724445 80724445 C T exonic SSBP2 nonsynonymous SNV SSBP2:NM_001256733:exon15:c.G955A:p.E319K,SSBP2:NM_001256734:exon15:c.G949A:p.E317K,SSBP2:NM_001256735:exon15:c.G925A:p.E309K,SSBP2:NM_001256732:exon16:c.G1039A:p.E347K,SSBP2:NM_012446:exon16:c.G1015A:p.E339K Score=683;Name=lod=797 0.06 0.999231 C 0.98 D 0.422 P 1.0 D 0.999455 D 5.6 78 19 0.196 117 0 0.000 1.02036490410073535e-07 0.474 --- 72,61,10,0.141 86,86,0,0.000 3.608 60 chr5 157158627 157158627 G A exonic THG1L nonsynonymous SNV THG1L:NM_017872:exon1:c.G179A:p.R60Q Score=581;Name=lod=306 0.03 0.999825 C 0.91 T 0.981 D 1.0 D 0.9981 D 5.82 97 54 0.358 191 0 0.000 1.0850287167611814e-22 0.352 --- 135,87,47,0.351 162,162,0,0.000 18.499 60 chr6 31938892 31938892 G A exonic DOM3Z nonsynonymous SNV DOM3Z:NM_005510:exon3:c.C389T:p.T130M Score=366;Name=lod=41 0.14 0.998896 C 0.98 D 0.751 P 1.0 D 0.995063 D 3.91 111 65 0.369 190 0 0.000 1.12552539425108906e-24 0.308 --- 154,93,58,0.384 173,172,0,0.000 22.294 60 chr6 42974745 42974745 A C exonic PPP2R5D nonsynonymous SNV PPP2R5D:NM_180977:exon2:c.A101C:p.K34T,PPP2R5D:NM_006245:exon4:c.A419C:p.K140T,PPP2R5D:NM_180976:exon4:c.A323C:p.K108T Score=674;Name=lod=734 0.998738 C 1.0 D 0.956 D 1.0 D 0.781307 NA 4.75 101 79 0.439 160 0 0.000 4.41225688205943566e-27 0.582 --- 141,80,61,0.433 138,138,0,0.000 21.606 60 chr6 168317785 168317785 C T exonic MLLT4 nonsynonymous SNV MLLT4:NM_001207008:exon18:c.C2513T:p.T838I,MLLT4:NM_001040000:exon19:c.C2561T:p.T854I Score=491;Name=lod=132 0.01 0.998986 C 0.93 T 0.985 D 1.0 D 0.003048 N 5.34 83 50 0.376 162 0 0.000 9.97476011538566469e-21 0.760 --- 115,71,44,0.383 135,135,0,0.000 17.225 14.557 chr7 16640496 16640496 C G exonic ANKMY2 nonsynonymous SNV ANKMY2:NM_020319:exon10:c.G1216C:p.D406H 0.12 0.215263 N 0.95 T 0.326 P 0.564718 N 0.00693 N 0.974 100 69 0.408 197 0 0.000 5.70029744077262049e-28 0.362 --- 138,80,57,0.416 166,164,0,0.000 22.971 60 chr7 39990311 39990311 A G exonic CDK13 nonsynonymous SNV CDK13:NM_003718:exon1:c.A71G:p.E24G,CDK13:NM_031267:exon1:c.A71G:p.E24G Score=731;Name=lod=1249 0 0.992739 C 1.0 D 0.535339 NA 0.855761 NA 0.005096 N 3.64 175 113 0.392 228 0 0.000 1.56281031716019485e-34 0.336 --- 259,156,102,0.395 203,203,0,0.000 30.526 11.469 chr7 53103906 53103906 C T exonic POM121L12 nonsynonymous SNV POM121L12:NM_182595:exon1:c.C542T:p.A181V 0 0.891365 N 0.813763 NA 0.583 P 0.837083 NA 8.74E-4 N 0.725 153 144 0.485 256 0 0.000 6.16104837627994147e-49 0.465 --- 261,129,132,0.506 214,214,0,0.000 43.163 60 chr7 106508682 106508682 C T exonic PIK3CG nonsynonymous SNV PIK3CG:NM_002649:exon2:c.C676T:p.R226C Score=533;Name=lod=196 ID=COSM1239843;OCCURENCE=1(oesophagus) 0.05 0.999094 C 0.95 T 0.0080 B 0.99998 D 0.973226 D 5.45 160 131 0.450 225 0 0.000 1.23176770945888214e-40 0.458 --- 244,130,113,0.465 199,198,0,0.000 35.908 60 chr7 111409670 111409670 T C exonic DOCK4 nonsynonymous SNV DOCK4:NM_014705:exon36:c.A3716G:p.E1239G Score=558;Name=lod=246 0.06 168 68 0.288 237 0 0.000 1.01224882546432448e-23 0.559 --- 182,130,52,0.286 195,195,0,0.000 18.357 60 chr7 111409672 111409672 C T exonic DOCK4 synonymous SNV DOCK4:NM_014705:exon36:c.G3714A:p.R1238R Score=558;Name=lod=246 167 68 0.289 236 0 0.000 9.83221374730437391e-24 0.559 --- 182,130,52,0.286 193,193,0,0.000 18.228 60 chr7 158672627 158672627 G A exonic WDR60 nonsynonymous SNV WDR60:NM_018051:exon5:c.G826A:p.V276M 0.11 165 78 0.321 236 0 0.000 7.41202419450312779e-27 0.423 --- 203,134,68,0.337 192,191,0,0.000 22.533 60 chr8 17434812 17434812 G A exonic PDGFRL synonymous SNV PDGFRL:NM_006207:exon2:c.G51A:p.E17E Score=336;Name=lod=31 45 28 0.384 88 0 0.000 7.32174816601991731e-12 0.393 --- 64,40,24,0.375 79,79,0,0.000 9.648 60 chr8 26484157 26484157 T A exonic DPYSL2 nonsynonymous SNV DPYSL2:NM_001197293:exon5:c.T818A:p.M273K,DPYSL2:NM_001244604:exon5:c.T395A:p.M132K,DPYSL2:NM_001386:exon5:c.T503A:p.M168K Score=585;Name=lod=317 0 0.998 C 1.0 D 1.0 D 0.999803 D 0.995532 D 5.31 27 34 0.557 117 0 0.000 4.1494637987994589e-20 0.559 --- 48,22,26,0.542 94,94,0,0.000 14.857 60 chr8 131964145 131964145 G A exonic ADCY8 nonsynonymous SNV ADCY8:NM_001115:exon3:c.C1210T:p.R404W Score=592;Name=lod=340 0 0.950913 C 1.0 D 0.914 D 0.999856 D 0.934326 D 0.739 227 64 0.220 226 0 0.000 3.63827744619942237e-18 0.547 --- 242,184,58,0.240 175,175,0,0.000 14.902 60 chr10 25284690 25284690 G A exonic ENKUR nonsynonymous SNV ENKUR:NM_001270383:exon3:c.C146T:p.A49V,ENKUR:NM_145010:exon3:c.C332T:p.A111V Score=445;Name=lod=86 1 0.9998 C 0.0 T 0.0 B 0.999978 D 0.089172 N 5.72 100 84 0.457 230 0 0.000 3.02664240507962807e-36 0.560 --- 135,74,61,0.452 177,177,0,0.000 26.503 60 chr10 108380190 108380190 G A exonic SORCS1 nonsynonymous SNV SORCS1:NM_001013031:exon20:c.C2792T:p.T931M,SORCS1:NM_001206569:exon20:c.C2792T:p.T931M,SORCS1:NM_001206570:exon20:c.C2792T:p.T931M,SORCS1:NM_001206571:exon20:c.C2792T:p.T931M,SORCS1:NM_001206572:exon20:c.C2792T:p.T931M,SORCS1:NM_052918:exon20:c.C2792T:p.T931M Score=596;Name=lod=352 ID=COSM1345710,COSM1345709;OCCURENCE=1(large_intestine) 0.07 0.999695 C 0.95 T 0.997 D 1.0 D 0.8614 D 5.4 103 68 0.398 213 0 0.000 1.27545931606860777e-28 0.574 --- 148,89,59,0.399 178,178,0,0.000 23.660 60 chr11 6942645 6942645 G A exonic OR2D3 nonsynonymous SNV OR2D3:NM_001004684:exon1:c.G413A:p.R138Q Score=533;Name=lod=196 0 0.999652 C 0.98 D 0.86 D 0.983003 N 0.334879 N 4.21 113 44 0.280 199 0 0.000 4.58250398043748391e-18 0.591 --- 130,92,38,0.292 160,160,0,0.000 14.754 60 chr11 56432067 56432067 A G exonic OR5AR1 synonymous SNV OR5AR1:NM_001004730:exon1:c.A906G:p.K302K Score=503;Name=lod=148 66 25 0.275 115 0 0.000 1.61275961142764924e-10 0.280 --- 79,57,22,0.278 97,96,0,0.000 8.405 60 chr11 89155132 89155132 G T exonic NOX4 synonymous SNV NOX4:NM_001143836:exon8:c.C567A:p.I189I,NOX4:NM_016931:exon8:c.C567A:p.I189I,NOX4:NM_001143837:exon11:c.C495A:p.I165I Score=611;Name=lod=404 76 10 0.116 70 0 0.000 0.00224723749264473994 0.500 --- 62,56,6,0.097 59,59,0,0.000 1.557 5.167 chr12 53449372 53449372 T G exonic TENC1 synonymous SNV TENC1:NM_015319:exon9:c.T624G:p.P208P,TENC1:NM_170754:exon9:c.T594G:p.P198P,TENC1:NM_198316:exon9:c.T222G:p.P74P 168 22 0.116 217 0 0.000 2.65043168329870019e-08 1.000 --- 210,168,42,0.200 188,188,0,0.000 12.474 6.886 chr12 100957259 100957259 G A exonic NR1H4 nonsynonymous SNV NR1H4:NM_001206992:exon9:c.G1441A:p.V481M,NR1H4:NM_001206993:exon9:c.G1453A:p.V485M,NR1H4:NM_001206978:exon10:c.G1270A:p.V424M,NR1H4:NM_001206979:exon11:c.G1423A:p.V475M,NR1H4:NM_005123:exon11:c.G1411A:p.V471M,NR1H4:NM_001206977:exon12:c.G1423A:p.V475M Score=508;Name=lod=155 0.06 0.999747 C 0.83 T 0.898 D 1.0 D 0.999648 D 5.54 59 37 0.385 132 0 0.000 8.97534020486301098e-17 0.351 --- 82,52,29,0.358 106,106,0,0.000 12.032 60 chr12 114804165 114804165 C T exonic TBX5 nonsynonymous SNV TBX5:NM_080717:exon7:c.G637A:p.V213M,TBX5:NM_000192:exon8:c.G787A:p.V263M,TBX5:NM_181486:exon8:c.G787A:p.V263M Score=512;Name=lod=161 0.003921 0.01 rs147405081 0.26 0.998899 C 0.65 T 0.514 P 0.999979 D 0.998756 D 5.27 99 70 0.414 201 0 0.000 8.26350419045591534e-29 0.343 --- 142,84,57,0.404 178,178,0,0.000 23.644 14.311 chr12 132328577 132328577 G A exonic MMP17 nonsynonymous SNV MMP17:NM_016155:exon6:c.G919A:p.E307K Score=295;Name=lod=21 0.85 0.829796 N 0.11 T 0.0 B 0.001766 N 0.135312 N 0.489 59 25 0.298 94 0 0.000 7.6898852897230253e-10 0.760 --- 74,51,23,0.311 76,76,0,0.000 7.949 12.324 chr13 77460259 77460259 C T exonic KCTD12 nonsynonymous SNV KCTD12:NM_138444:exon1:c.G25A:p.G9R Score=519;Name=lod=171 0.04 0.960466 C 0.86 T 0.961 D 0.984762 N 0.352347 N 2.0 130 255 0.662 181 0 0.000 7.30228487013955735e-63 0.306 --- 328,109,216,0.665 154,154,0,0.000 52.809 60 chr14 73729153 73729153 C T exonic PAPLN nonsynonymous SNV PAPLN:NM_173462:exon18:c.C2260T:p.R754C Score=472;Name=lod=110 0.001153 rs150310890 0 0.998753 C 1.0 D 0.999 D 1.0 NA 0.964061 D 4.63 66 99 0.600 252 0 0.000 1.28781603896204532e-51 0.626 --- 133,51,82,0.617 207,207,0,0.000 42.971 60 chr15 89417650 89417650 C T exonic ACAN nonsynonymous SNV ACAN:NM_001135:exon16:c.C7234T:p.R2412C,ACAN:NM_013227:exon18:c.C7531T:p.R2511C Score=395;Name=lod=54 0 30 34 0.531 162 0 0.000 5.96654091889998796e-23 0.647 --- 54,27,27,0.500 119,119,0,0.000 16.171 60 chr15 91423195 91423195 G A exonic FURIN nonsynonymous SNV FURIN:NM_002569:exon12:c.G1357A:p.D453N Score=582;Name=lod=310 0.61 0.999264 C 0.21 T 0.0090 B 0.998724 N 0.453936 N 4.22 48 10 0.172 114 0 0.000 1.09082071917146434e-05 0.400 --- 51,43,8,0.157 97,97,0,0.000 3.869 11.369 chr17 3912918 3912918 C T exonic ZZEF1 nonsynonymous SNV ZZEF1:NM_015113:exon53:c.G8713A:p.V2905I Score=472;Name=lod=110 0.0082 rs200056540 0.11 0.999226 C 0.42 T 0.02 B 0.999989 D 0.30393 N 5.59 45 55 0.550 196 0 0.000 1.9839908024663096e-32 0.473 --- 87,38,49,0.563 159,159,0,0.000 27.323 60 chr17 4793955 4793955 G C exonic MINK1 synonymous SNV MINK1:NM_001024937:exon14:c.G1491C:p.L497L,MINK1:NM_015716:exon14:c.G1491C:p.L497L,MINK1:NM_153827:exon14:c.G1491C:p.L497L,MINK1:NM_170663:exon14:c.G1491C:p.L497L Score=452;Name=lod=92 43 48 0.527 162 0 0.000 1.17588666648902286e-26 0.521 --- 78,37,41,0.526 136,136,0,0.000 21.851 14.256 chr17 7577548 7577548 C T exonic TP53 nonsynonymous SNV TP53:NM_001126115:exon3:c.G337A:p.G113S,TP53:NM_001126116:exon3:c.G337A:p.G113S,TP53:NM_001126117:exon3:c.G337A:p.G113S,TP53:NM_001276697:exon3:c.G256A:p.G86S,TP53:NM_001276698:exon3:c.G256A:p.G86S,TP53:NM_001276699:exon3:c.G256A:p.G86S,TP53:NM_001126118:exon6:c.G616A:p.G206S,TP53:NM_000546:exon7:c.G733A:p.G245S,TP53:NM_001126112:exon7:c.G733A:p.G245S,TP53:NM_001126113:exon7:c.G733A:p.G245S,TP53:NM_001126114:exon7:c.G733A:p.G245S,TP53:NM_001276695:exon7:c.G616A:p.G206S,TP53:NM_001276696:exon7:c.G616A:p.G206S,TP53:NM_001276760:exon7:c.G616A:p.G206S,TP53:NM_001276761:exon7:c.G616A:p.G206S Score=520;Name=lod=173 0.000077 ID=COSM121037,COSM121035,COSM6932,COSM121036;OCCURENCE=1(salivary_gland),2(vulva),20(ovary),30(breast),27(stomach),21(haematopoietic_and_lymphoid_tissue),1(kidney),2(soft_tissue),10(urinary_tract),4(pancreas),4(liver),20(oesophagus),7(skin),3(prostate),6(lung),1(cervix),11(upper_aerodigestive_tract),101(large_intestine),25(central_nervous_system),2(endometrium) 0.0082 rs28934575 0 0.998718 C 1.0 D 0.999 D 1.0 D 1.0 D 4.04 18 26 0.591 72 0 0.000 1.81801032912966773e-14 0.346 --- 37,15,22,0.595 57,57,0,0.000 11.227 60 chr17 73922225 73922225 G A exonic FBF1 nonsynonymous SNV FBF1:NM_001080542:exon11:c.C712T:p.R238C Score=536;Name=lod=201 0 217 45 0.172 281 0 0.000 6.74829750882047298e-16 0.444 --- 227,188,39,0.172 236,236,0,0.000 12.863 10.427 chr18 56940361 56940361 G A exonic RAX synonymous SNV RAX:NM_013435:exon1:c.C78T:p.G26G 97 38 0.281 226 0 0.000 1.37420270276309281e-18 0.526 --- 111,80,31,0.279 176,176,0,0.000 14.073 60 chr19 4217426 4217426 G A exonic ANKRD24 nonsynonymous SNV ANKRD24:NM_133475:exon18:c.G2269A:p.A757T 0.09 149 81 0.352 260 0 0.000 2.79489525407485409e-31 0.506 --- 194,124,70,0.361 223,222,0,0.000 26.716 12.061 chr19 22499091 22499091 C A exonic ZNF729 nonsynonymous SNV ZNF729:NM_001242680:exon4:c.C2872A:p.H958N Score=376;Name=lod=45 Score=0.910164;Name=chr19:22938309 0 215 167 0.437 460 0 0.000 4.14903124405633756e-69 0.425 --- 327,183,144,0.440 389,388,1,0.003 56.586 60 chr19 31769759 31769759 C T exonic TSHZ3 nonsynonymous SNV TSHZ3:NM_020856:exon2:c.G940A:p.A314T Score=441;Name=lod=83 ID=COSM286031,COSM286030;OCCURENCE=1(large_intestine) 0.75 0.979157 C 0.29 T 0.0 B 0.999996 N 0.997098 D 2.97 161 109 0.404 258 0 0.000 3.26476820224416341e-38 0.486 --- 229,139,90,0.393 221,221,0,0.000 31.086 60 chr19 37643369 37643369 G A exonic ZNF585A nonsynonymous SNV ZNF585A:NM_152655:exon6:c.C1267T:p.R423W,ZNF585A:NM_199126:exon6:c.C1267T:p.R423W 0.001230 0.0009 rs143272721 0.01 0.161053 N 0.99 D 0.999 D 0.999535 D 0.007619 N -2.17 153 112 0.423 331 0 0.000 2.48166273962133216e-47 0.545 --- 235,136,99,0.421 292,291,0,0.000 40.933 60 chr19 41114419 41114419 C T exonic LTBP4 unknown UNKNOWN 0.06 105 50 0.323 196 0 0.000 9.40504633135542451e-21 0.360 --- 133,88,44,0.333 174,174,0,0.000 18.180 60 chr19 47259485 47259485 G A exonic FKRP nonsynonymous SNV FKRP:NM_001039885:exon4:c.G778A:p.E260K,FKRP:NM_024301:exon4:c.G778A:p.E260K Score=278;Name=lod=18 0.69 0.998581 C 0.53 T 0.0090 B 0.943927 N 0.052652 N 3.73 84 69 0.451 128 0 0.000 6.31094148806179251e-23 0.507 --- 133,72,61,0.459 116,116,0,0.000 20.249 60 chr19 47865946 47865946 T C exonic DHX34 nonsynonymous SNV DHX34:NM_014681:exon6:c.T1589C:p.L530P Score=457;Name=lod=96 0 0.997736 C 1.0 D 0.726874 NA 0.999938 D 0.727404 NA 5.18 105 60 0.364 190 0 0.000 9.64369183968026473e-24 0.233 --- 153,97,56,0.366 162,162,0,0.000 20.326 10.756 chr19 56467229 56467229 C T exonic NLRP8 nonsynonymous SNV NLRP8:NM_176811:exon3:c.C1805T:p.P602L ID=COSM193366,COSM193367;OCCURENCE=1(large_intestine) 0.25 0.010162 N 0.11 T 0.012 B 0.595524 NA 0.010857 N -3.96 163 33 0.168 161 0 0.000 1.33046229524507775e-09 0.545 --- 165,136,29,0.176 134,133,0,0.000 7.667 60 chr20 35422334 35422334 C T exonic SOGA1 nonsynonymous SNV SOGA1:NM_080627:exon14:c.G4151A:p.R1384H Score=412;Name=lod=63 0 56 344 0.860 266 0 0.000 1.94917192819906227e-130 0.488 --- 329,46,283,0.860 212,212,0,0.000 60.000 60 chr22 19384358 19384358 C T exonic HIRA synonymous SNV HIRA:NM_003325:exon7:c.G606A:p.R202R Score=573;Name=lod=285 29 53 0.646 128 0 0.000 5.9591896279565279e-29 0.509 --- 70,23,47,0.671 105,105,0,0.000 24.799 60 chrX 22239849 22239849 G C exonic PHEX nonsynonymous SNV PHEX:NM_000444:exon18:c.G1888C:p.A630P Score=614;Name=lod=418 0 0.999767 C 1.0 D 0.982 D 1.0 D 0.998248 D 5.61 9 67 0.882 49 0 0.000 6.48721083869871405e-26 0.358 --- 59,7,52,0.881 42,42,0,0.000 20.751 60 chrX 34962162 34962162 G A exonic FAM47B nonsynonymous SNV FAM47B:NM_152631:exon1:c.G1214A:p.R405H Score=0.896562;Name=chrX:37021502 0.12 0.876982 N 1.0 D 0.037 B 0.798483 NA 0.004048 N 0.185 44 264 0.857 174 0 0.000 9.25093775548310911e-90 0.583 --- 260,36,223,0.861 157,157,0,0.000 60.000 60 chrX 99663486 99663486 G A exonic PCDH19 nonsynonymous SNV PCDH19:NM_001105243:exon1:c.C110T:p.T37M,PCDH19:NM_001184880:exon1:c.C110T:p.T37M,PCDH19:NM_020766:exon1:c.C110T:p.T37M Score=494;Name=lod=136 0 0.999673 C 1.0 D 0.852 D 0.999999 D 0.387129 N 5.35 109 27 0.199 69 0 0.000 1.06142397855688607e-05 0.407 --- 109,86,22,0.204 54,54,0,0.000 3.933 13.266 chrX 102192279 102192279 C T exonic RAB40AL synonymous SNV RAB40AL:NM_001031834:exon1:c.C33T:p.Y11Y Score=595;Name=lod=349 Score=0.918743;Name=chrX:102751825 0.000095 ID=COSM1331402,COSM1331403;OCCURENCE=1(ovary),1(lung) 23 138 0.857 101 0 0.000 1.68845990376397822e-50 0.754 --- 144,21,123,0.854 85,85,0,0.000 42.433 60 chrX 103349892 103349892 G A exonic SLC25A53 stopgain SLC25A53:NM_001012755:exon2:c.C49T:p.R17X Score=0.924513;Name=chrX:103172644 1 0.915478 N 0.901607 NA 0.672593 NA 0.721564 N 1.0 D 0.88 24 120 0.833 94 0 0.000 5.90903254482657562e-44 0.308 --- 124,20,102,0.836 73,73,0,0.000 34.742 60