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 149906943 149906943 C T exonic MTMR11 nonsynonymous SNV MTMR11:NM_181873:exon4:c.G188A:p.G63D,MTMR11:NM_001145862:exon5:c.G404A:p.G135D Score=573;Name=lod=283 0.12 0.999127 C 0.82 T 0.654 P 0.996915 N 0.686408 D 4.96 194 48 0.198 232 0 0.000 8.45888226549717836e-16 0.479 --- 192,154,38,0.198 185,185,0,0.000 11.921 10.597 chr1 171509735 171509735 G A exonic PRRC2C nonsynonymous SNV PRRC2C:NM_015172:exon16:c.G3124A:p.V1042I 0.01 237 41 0.147 243 0 0.000 1.68747909019632352e-12 0.659 --- 238,201,36,0.152 216,216,0,0.000 10.714 14.875 chr2 1491666 1491666 C T exonic TPO synonymous SNV TPO:NM_175722:exon8:c.C1152T:p.N384N,TPO:NM_175721:exon9:c.C1671T:p.N557N,TPO:NM_000547:exon10:c.C1671T:p.N557N,TPO:NM_001206744:exon10:c.C1671T:p.N557N 0.002845 0.0005 ID=COSM1399818;OCCURENCE=1(large_intestine) rs145033652 213 33 0.134 290 0 0.000 1.9907238019893018e-12 0.697 --- 183,157,25,0.137 211,211,0,0.000 8.770 6.824 chr2 21235428 21235428 T A exonic APOB nonsynonymous SNV APOB:NM_000384:exon26:c.A4312T:p.S1438C Score=265;Name=lod=16 0.07 0.997944 C 0.96 D 0.065 B 0.994501 N 0.001044 N 4.94 132 18 0.120 149 0 0.000 4.43740895065883727e-06 0.444 --- 120,107,13,0.108 121,121,0,0.000 4.086 9.093 chr2 131976382 131976382 G A exonic POTEE nonsynonymous SNV POTEE:NM_001083538:exon1:c.G407A:p.R136H Score=0.985749;Name=chr2:130818815 0.13 461 54 0.105 452 0 0.000 4.42414070032001745e-16 0.407 --- 440,391,48,0.109 385,385,0,0.000 13.646 3.498 chr2 152495897 152495897 C T exonic NEB nonsynonymous SNV NEB:NM_001164507:exon63:c.G8891A:p.R2964H,NEB:NM_001164508:exon63:c.G8891A:p.R2964H,NEB:NM_001271208:exon63:c.G8891A:p.R2964H Score=333;Name=lod=30 0.07 83 21 0.202 112 0 0.000 6.75184772886933828e-08 0.381 --- 87,71,16,0.184 99,98,0,0.000 5.591 5.648 chr2 182766928 182766928 C T exonic SSFA2 nonsynonymous SNV SSFA2:NM_001130445:exon8:c.C1148T:p.A383V,SSFA2:NM_006751:exon8:c.C1148T:p.A383V Score=336;Name=lod=31 0.12 0.984152 C 0.94 T 0.0 B 0.433952 N 0.074894 N 3.43 140 22 0.136 185 0 0.000 2.33729921578973476e-08 0.455 --- 149,128,20,0.135 162,162,0,0.000 6.734 11.783 chr2 201477385 201477385 G A exonic AOX1 synonymous SNV AOX1:NM_001159:exon14:c.G1317A:p.A439A 130 33 0.202 158 0 0.000 4.32681839122992073e-11 0.545 --- 132,107,25,0.189 132,132,0,0.000 7.770 5.449 chr3 9974529 9974529 C A exonic IL17RC nonsynonymous SNV IL17RC:NM_001203265:exon16:c.C1413A:p.D471E,IL17RC:NM_032732:exon17:c.C1464A:p.D488E,IL17RC:NM_153460:exon18:c.C1509A:p.D503E,IL17RC:NM_153461:exon18:c.C1722A:p.D574E Score=378;Name=lod=46 0.03 0.90711 N 1.0 D 0.466 P 0.751709 N 5.04E-4 N 1.95 158 28 0.151 189 0 0.000 9.83423491327940071e-10 0.464 --- 158,131,27,0.171 162,162,0,0.000 8.809 15.0 chr3 42916263 42916263 C T exonic CYP8B1 nonsynonymous SNV CYP8B1:NM_004391:exon1:c.G1046A:p.R349Q Score=300;Name=lod=22 ID=COSM167931;OCCURENCE=1(large_intestine) 0 0.998404 C 1.0 D 1.0 D 0.99995 D 0.260641 N 4.92 207 36 0.148 249 1 0.004 4.64992132059268313e-11 0.500 1.000 197,167,30,0.152 221,220,1,0.005 9.092 10.005 chr3 128991720 128991720 T A exonic COPG1 nonsynonymous SNV COPG1:NM_016128:exon21:c.T2229A:p.D743E Score=333;Name=lod=30 0.35 0.025467 N 0.98 D 0.0030 B 1.0 D 0.306089 N -4.21 76 12 0.136 84 0 0.000 0.000336830700877399946 0.500 --- 65,56,9,0.138 64,64,0,0.000 2.537 7.54 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 54 16 0.229 72 0 0.000 4.56684183980268334e-06 0.438 --- 57,44,13,0.228 63,63,0,0.000 4.554 12.185 chr4 5624286 5624286 G A exonic EVC2 nonsynonymous SNV EVC2:NM_001166136:exon14:c.C2239T:p.R747C,EVC2:NM_147127:exon14:c.C2479T:p.R827C Score=369;Name=lod=42 0.000231 0.07 0.990985 C 0.94 T 0.928 D 0.999768 D 0.007893 N 2.24 206 24 0.104 263 0 0.000 5.75924576305599555e-09 0.667 --- 200,179,21,0.105 222,222,0,0.000 7.063 6.484 chr4 119626803 119626803 G A exonic METTL14 nonsynonymous SNV METTL14:NM_020961:exon10:c.G893A:p.R298H Score=423;Name=lod=70 ID=COSM1162408;OCCURENCE=1(pancreas) 0 0.994179 C 1.0 D 1.0 D 1.0 D 0.999969 D 4.6 120 20 0.143 150 0 0.000 2.22277159945920022e-07 0.650 --- 109,92,17,0.156 128,126,0,0.000 5.986 13.256 chr5 13902245 13902245 G A exonic DNAH5 synonymous SNV DNAH5:NM_001369:exon13:c.C1647T:p.N549N Score=457;Name=lod=96 73 13 0.151 74 0 0.000 0.000222429884129776204 0.385 --- 64,54,10,0.156 61,61,0,0.000 2.866 7.539 chr5 112174682 112174682 C T exonic APC stopgain APC:NM_001127511:exon14:c.C3337T:p.Q1113X,APC:NM_000038:exon16:c.C3391T:p.Q1131X,APC:NM_001127510:exon17:c.C3391T:p.Q1131X Score=678;Name=lod=758 ID=COSM13868;OCCURENCE=2(large_intestine) 0.1 0.999058 C 0.903797 NA 0.735364 NA 0.999769 D 1.0 D 5.41 158 33 0.173 201 0 0.000 1.05289100462680959e-11 0.485 --- 152,127,25,0.164 164,164,0,0.000 8.430 14.875 chr5 140627367 140627367 G A exonic PCDHB15 nonsynonymous SNV PCDHB15:NM_018935:exon1:c.G2221A:p.G741S Score=0.952865;Name=chr5:140475604 0.1 0.914696 N 0.97 D 0.0040 B 0.858603 NA 0.353995 N 0.944 579 110 0.160 682 2 0.003 2.71158134501272015e-32 0.318 0.500 577,484,93,0.161 581,579,1,0.002 28.138 13.75 chr5 140774548 140774548 G A exonic PCDHGA8 nonsynonymous SNV PCDHGA8:NM_014004:exon1:c.G2168A:p.R723H,PCDHGA8:NM_032088:exon1:c.G2168A:p.R723H 0.09 319 41 0.114 359 0 0.000 2.71891946974563508e-13 0.390 --- 303,268,35,0.116 316,316,0,0.000 11.320 13.872 chr6 123319069 123319069 G A exonic CLVS2 synonymous SNV CLVS2:NM_001010852:exon2:c.G147A:p.T49T 0.0082 166 22 0.117 227 0 0.000 1.33420230135431802e-08 0.545 --- 161,141,20,0.124 193,193,0,0.000 7.141 7.054 chr7 37905160 37905160 C A exonic NME8 nonsynonymous SNV NME8:NM_016616:exon10:c.C562A:p.H188N 0.03 0.86635 N 0.95 T 0.157 P 0.503856 N 3.0E-4 N 0.833 62 7 0.101 102 0 0.000 0.00144032699441855765 0.714 --- 52,46,6,0.115 78,78,0,0.000 2.467 4.772 chr8 77767843 77767843 G A exonic ZFHX4 nonsynonymous SNV ZFHX4:NM_024721:exon10:c.G8686A:p.A2896T Score=511;Name=lod=159 0.59 302 40 0.117 373 0 0.000 4.37074733789800665e-14 0.500 --- 293,257,36,0.123 319,319,0,0.000 12.034 60 chr9 136277453 136277453 C T exonic REXO4 synonymous SNV REXO4:NM_020385:exon4:c.G876A:p.A292A 126 14 0.100 154 0 0.000 2.15591419728426607e-05 0.643 --- 122,109,13,0.107 133,132,0,0.000 4.292 5.471 chr9 139990809 139990809 C T exonic MAN1B1 nonsynonymous SNV MAN1B1:NM_016219:exon4:c.C586T:p.R196C 0.000077 0 0.088709 N 1.0 D 0.699 P 0.010478 U 3.91E-4 N -7.31 159 27 0.145 192 0 0.000 1.72227417941314273e-09 0.407 --- 156,136,20,0.128 153,153,0,0.000 5.996 10.724 chr10 87615842 87615842 G A exonic GRID1 nonsynonymous SNV GRID1:NM_017551:exon7:c.C1057T:p.R353W Score=529;Name=lod=188 0 0.999472 C 1.0 D 0.999 D 1.0 D 0.996371 D 3.66 113 19 0.144 144 0 0.000 3.9630012596758137e-07 0.474 --- 100,81,19,0.190 115,115,0,0.000 6.754 8.565 chr10 114920401 114920401 C T exonic TCF7L2 nonsynonymous SNV TCF7L2:NM_001198526:exon12:c.C1273T:p.R425W,TCF7L2:NM_001146274:exon13:c.C1342T:p.R448W,TCF7L2:NM_001198525:exon14:c.C1412T:p.S471L Score=709;Name=lod=1013 ID=COSM1345848;OCCURENCE=1(large_intestine) 0 146 17 0.104 156 0 0.000 1.04457224473381363e-05 0.588 --- 125,111,14,0.112 132,132,0,0.000 4.554 9.051 chr11 47282025 47282025 G A exonic NR1H3 nonsynonymous SNV NR1H3:NM_001130102:exon3:c.G163A:p.V55M,NR1H3:NM_001130101:exon4:c.G298A:p.V100M,NR1H3:NM_001251934:exon4:c.G316A:p.V106M,NR1H3:NM_001251935:exon4:c.G316A:p.V106M,NR1H3:NM_005693:exon4:c.G298A:p.V100M Score=596;Name=lod=351 ID=COSM1259422;OCCURENCE=1(oesophagus) 0 0.999549 C 1.0 D 0.988 D 1.0 D 0.994449 D 5.11 186 36 0.162 175 0 0.000 2.35524717639381701e-10 0.500 --- 184,147,31,0.174 141,140,0,0.000 8.240 60 chr11 63064836 63064836 G A exonic SLC22A10 nonsynonymous SNV SLC22A10:NM_001039752:exon3:c.G568A:p.A190T ID=COSM1355532;OCCURENCE=1(large_intestine) 0.49 0.106407 N 0.36 T 0.033 B 0.692531 N 0.026153 N -3.64 229 37 0.139 253 0 0.000 5.55617138668964001e-12 0.595 --- 209,179,30,0.144 191,191,0,0.000 8.900 15.955 chr11 65651043 65651043 G A exonic CTSW nonsynonymous SNV CTSW:NM_001335:exon10:c.G1085A:p.R362H ID=COSM1356095;OCCURENCE=1(large_intestine) 0.08 0.846195 N 0.75 T 0.92 D 0.831315 N 0.036505 N -1.34 179 28 0.135 182 0 0.000 1.52571493859439054e-08 0.536 --- 178,153,25,0.140 159,159,0,0.000 7.282 7.615 chr11 68183975 68183975 G T exonic LRP5 nonsynonymous SNV LRP5:NM_002335:exon13:c.G3007T:p.A1003S Score=366;Name=lod=41 0.57 0.999047 C 0.61 T 0.0 B 0.999904 U 0.968285 D 4.01 127 29 0.186 129 0 0.000 7.67539091682049056e-09 0.414 --- 135,110,25,0.185 104,104,0,0.000 6.463 9.192 chr11 72302354 72302354 G A exonic PDE2A nonsynonymous SNV PDE2A:NM_001143839:exon6:c.C515T:p.A172V,PDE2A:NM_001243784:exon7:c.C473T:p.A158V,PDE2A:NM_002599:exon7:c.C536T:p.A179V,PDE2A:NM_001146209:exon8:c.C509T:p.A170V Score=472;Name=lod=111 0.55 0.987383 C 0.0 T 0.0 B 0.186888 N 0.00325 N 3.71 70 9 0.114 64 0 0.000 0.00437840652536263116 0.556 --- 56,50,6,0.107 51,51,0,0.000 1.554 6.437 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 5.24 125 17 0.120 157 0 0.000 1.86512212571875074e-06 0.471 --- 107,95,12,0.112 132,132,0,0.000 4.344 9.688 chr12 56668797 56668797 G T exonic CS nonsynonymous SNV CS:NM_004077:exon8:c.C907A:p.L303M Score=497;Name=lod=140 Score=0.974638;Name=chr19:18142024 0.01 0.793476 N 0.98 D 0.893 D 0.999999 D 0.999798 D -0.257 169 27 0.138 137 0 0.000 3.96410237802751002e-07 0.630 --- 160,138,22,0.138 118,118,0,0.000 5.402 12.362 chr12 69233097 69233097 T A exonic MDM2 nonsynonymous SNV MDM2:NM_002392:exon11:c.T962A:p.L321H Score=553;Name=lod=235 0 0.997901 C 1.0 D 0.986 D 1.0 D 0.788199 NA 5.26 119 26 0.179 161 0 0.000 1.01239376801419244e-09 0.846 --- 124,101,23,0.185 138,138,0,0.000 7.985 60 chr14 39722322 39722322 G A exonic MIA2 nonsynonymous SNV MIA2:NM_054024:exon6:c.G1834A:p.V612I 0.92 0.755111 N 1.0 D 0.0 B 0.270273 N 1.7E-5 N -0.602 60 7 0.104 89 0 0.000 0.00223456967311148928 0.714 --- 61,54,7,0.115 79,79,0,0.000 2.615 5.093 chr16 30978288 30978288 C T exonic SETD1A synonymous SNV SETD1A:NM_014712:exon9:c.C2589T:p.L863L 162 22 0.120 158 0 0.000 1.19499851736168205e-06 0.591 --- 144,126,18,0.125 134,133,0,0.000 5.265 10.322 chr19 3548001 3548001 C A exonic MFSD12 nonsynonymous SNV MFSD12:NM_001042680:exon4:c.G682T:p.G228C,MFSD12:NM_021731:exon4:c.G682T:p.G228C,MFSD12:NM_174983:exon4:c.G682T:p.G228C Score=272;Name=lod=17 0 0.996468 C 1.0 D 1.0 D 1.0 D 0.999982 D 4.19 244 53 0.178 275 1 0.004 2.83998701484978213e-15 0.604 0.000 257,210,47,0.183 239,238,1,0.004 12.726 12.645 chr19 3977967 3977967 G A exonic EEF2 synonymous SNV EEF2:NM_001961:exon12:c.C1917T:p.Y639Y Score=514;Name=lod=163 0.0005 rs200515602 304 44 0.126 294 0 0.000 8.63420942218670746e-13 0.545 --- 296,255,41,0.139 248,248,0,0.000 11.206 13.028 chr19 37904119 37904119 G A exonic ZNF569 nonsynonymous SNV ZNF569:NM_152484:exon6:c.C1441T:p.L481F Score=265;Name=lod=16 0 0.999197 C 0.89 T 0.95 D 0.996794 N 0.174995 N 3.18 187 23 0.110 198 0 0.000 1.54979238072586015e-07 0.565 --- 179,157,21,0.118 173,173,0,0.000 6.276 6.438 chr19 50965290 50965290 G A exonic MYBPC2 synonymous SNV MYBPC2:NM_004533:exon26:c.G3225A:p.P1075P 200 30 0.130 209 0 0.000 1.5092486808631871e-09 0.333 --- 186,163,23,0.124 174,174,0,0.000 6.823 7.757 chr19 55284915 55284915 C T exonic KIR2DL1 synonymous SNV KIR2DL1:NM_014218:exon3:c.C201T:p.N67N Score=0.93824;Name=chr19_gl000209_random:94401 0.000157 rs144426670 121 38 0.239 225 0 0.000 1.50962877779514305e-16 0.579 --- 137,105,32,0.234 189,188,0,0.000 13.029 60 chr20 372180 372180 C T exonic TRIB3 nonsynonymous SNV TRIB3:NM_021158:exon3:c.C541T:p.R181C Score=352;Name=lod=36 0.000923 0.0005 0.0082 rs149447454 0 0.983746 C 0.99 D 1.0 D 0.99985 D 0.998842 D 3.65 214 38 0.151 212 0 0.000 2.20735074585727243e-11 0.395 --- 219,185,34,0.155 180,179,0,0.000 9.130 15.0 chr20 61512455 61512455 G T exonic DIDO1 nonsynonymous SNV DIDO1:NM_001193369:exon16:c.C4853A:p.P1618H,DIDO1:NM_033081:exon16:c.C4853A:p.P1618H 0.07 0.807704 N 1.0 D 0.011 B 0.615779 N 0.76665 D -0.16 249 52 0.173 310 0 0.000 8.8868565658889591e-18 0.423 --- 262,214,47,0.180 267,267,0,0.000 15.381 14.557 chrX 34148859 34148859 G A exonic FAM47A nonsynonymous SNV FAM47A:NM_203408:exon1:c.C1537T:p.R513W 0.000101 rs201381225 0.05 0.003388 N 0.98 D 1.0 D 0.608697 NA 1.65E-4 N -0.352 208 44 0.175 285 0 0.000 3.94623498228364265e-16 0.523 --- 213,167,43,0.205 231,230,0,0.000 14.900 10.911