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 6662482 6662482 C T exonic KLHL21 synonymous SNV KLHL21:NM_014851:exon1:c.G396A:p.Q132Q Score=867;Name=lod=4433 182 70 0.278 205 0 0.000 6.99079257174747477e-21 0.471 --- 212,148,63,0.299 179,179,0,0.000 18.723 60 chr1 16918424 16918424 G C exonic NBPF1 unknown UNKNOWN Score=0.969089;Name=chr1:16905978 0.040141 rs9730077 1 25 9 0.265 31 0 0.000 0.00227146429563767713 0.889 --- 32,24,8,0.250 32,31,1,0.031 1.577 3.69 chr1 27105921 27105921 G A exonic ARID1A stopgain ARID1A:NM_006015:exon20:c.G5532A:p.W1844X,ARID1A:NM_139135:exon20:c.G4881A:p.W1627X Score=652;Name=lod=593 ID=COSM674181;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 0 0.999561 C 0.903833 NA 0.735488 NA 1.0 D 1.0 D 4.61 104 118 0.532 276 0 0.000 2.10001116856631078e-52 0.508 --- 187,89,98,0.524 244,244,0,0.000 44.042 60 chr1 32740922 32740922 G A exonic LCK synonymous SNV LCK:NM_001042771:exon5:c.G279A:p.Q93Q,LCK:NM_005356:exon5:c.G279A:p.Q93Q Score=321;Name=lod=27 18 20 0.526 80 0 0.000 1.64392602138756014e-12 0.750 --- 35,17,18,0.514 64,64,0,0.000 9.744 60 chr1 109811586 109811586 C T exonic CELSR2 nonsynonymous SNV CELSR2:NM_001408:exon19:c.C6587T:p.P2196L 0.42 0.997935 C 0.58 T 0.0030 B 0.910255 NA 0.449521 N 4.16 214 93 0.303 230 0 0.000 2.55405016300098716e-26 0.484 --- 257,178,79,0.307 199,199,0,0.000 22.254 60 chr1 114196600 114196600 C G exonic MAGI3 synonymous SNV MAGI3:NM_001142782:exon15:c.C2589G:p.G863G,MAGI3:NM_152900:exon15:c.C2589G:p.G863G Score=573;Name=lod=283 109 33 0.232 155 0 0.000 2.96497206542133158e-12 0.364 --- 119,89,29,0.246 131,131,0,0.000 10.300 14.239 chr1 177226479 177226479 C T exonic FAM5B stopgain FAM5B:NM_021165:exon4:c.C628T:p.R210X Score=333;Name=lod=30 1 0.903845 N 0.896187 NA 0.719746 NA 1.0 D 1.0 A 2.15 134 69 0.340 161 0 0.000 1.18979889280680428e-20 0.449 --- 166,107,58,0.352 131,131,0,0.000 16.939 60 chr1 196342357 196342357 T A exonic KCNT2 nonsynonymous SNV KCNT2:NM_198503:exon14:c.A1316T:p.E439V Score=688;Name=lod=831 0 0.998164 C 1.0 D 0.842 P 0.999998 D 0.999995 D 5.39 36 17 0.321 46 0 0.000 6.17044789173969779e-06 0.294 --- 43,29,14,0.326 37,37,0,0.000 4.252 9.682 chr2 20647739 20647739 C A exonic RHOB nonsynonymous SNV RHOB:NM_004040:exon1:c.C513A:p.F171L Score=708;Name=lod=1009 0 0.234947 N 1.0 D 1.0 D 1.0 U 0.999922 D -1.77 212 30 0.124 177 0 0.000 5.4565294955595681e-08 0.500 --- 194,171,23,0.119 145,145,0,0.000 5.657 13.626 chr2 131520725 131520725 C T exonic AMER3 synonymous SNV AMER3:NM_001105193:exon2:c.C1080T:p.S360S,AMER3:NM_001105194:exon2:c.C1080T:p.S360S,AMER3:NM_001105195:exon2:c.C1080T:p.S360S,AMER3:NM_152698:exon2:c.C1080T:p.S360S 235 114 0.327 313 0 0.000 7.14437480570523728e-37 0.535 --- 298,203,95,0.319 251,251,0,0.000 28.751 60 chr2 168115543 168115543 G T exonic XIRP2 nonsynonymous SNV XIRP2:NM_001199145:exon8:c.G1821T:p.K607N,XIRP2:NM_001079810:exon10:c.G2487T:p.K829N,XIRP2:NM_001199143:exon11:c.G2586T:p.K862N 0.64 0.077085 N 0.712775 NA 0.216892 NA 0.599349 NA 4.89E-4 N -0.276 132 62 0.320 192 0 0.000 1.32459042324256842e-21 0.387 --- 162,110,52,0.321 169,169,0,0.000 18.304 60 chr2 179605032 179605032 G T exonic TTN nonsynonymous SNV TTN:NM_003319:exon45:c.C11839A:p.P3947T,TTN:NM_001256850:exon46:c.C11977A:p.P3993T,TTN:NM_133432:exon46:c.C12214A:p.P4072T,TTN:NM_133437:exon46:c.C12415A:p.P4139T,TTN:NM_001267550:exon48:c.C12928A:p.P4310T 173 84 0.327 219 0 0.000 1.81652979964297193e-26 0.476 --- 229,155,74,0.323 195,195,0,0.000 22.559 60 chr2 179635189 179635189 T A exonic TTN nonsynonymous SNV TTN:NM_003319:exon34:c.A8192T:p.Y2731F,TTN:NM_133432:exon34:c.A8192T:p.Y2731F,TTN:NM_133437:exon34:c.A8192T:p.Y2731F,TTN:NM_001256850:exon35:c.A8330T:p.Y2777F,TTN:NM_001267550:exon35:c.A8330T:p.Y2777F,TTN:NM_133378:exon35:c.A8330T:p.Y2777F,TTN:NM_133379:exon35:c.A8330T:p.Y2777F Score=527;Name=lod=185 0 0.998333 C 0.900874 NA 0.730813 NA 1.0 NA 0.978342 D 5.51 175 60 0.255 242 0 0.000 4.44159643358094733e-21 0.500 --- 205,152,52,0.255 219,218,0,0.000 18.088 60 chr2 201721423 201721423 C T exonic CLK1 nonsynonymous SNV CLK1:NM_001162407:exon9:c.G1165A:p.A389T,CLK1:NM_004071:exon9:c.G1039A:p.A347T Score=536;Name=lod=202 0 0.998321 C 1.0 D 0.033 B 1.0 D 0.995646 D 4.88 57 40 0.412 75 0 0.000 1.46764551875949369e-12 0.675 --- 82,50,32,0.390 65,65,0,0.000 9.508 9.26 chr2 242573220 242573220 C T exonic THAP4 nonsynonymous SNV THAP4:NM_015963:exon2:c.G352A:p.A118T 0.123302 N 0.92 T 0.0 B 0.075686 N 0.009352 N -1.24 121 69 0.363 152 0 0.000 2.85268053834091271e-21 0.464 --- 157,100,57,0.363 140,140,0,0.000 18.338 60 chr3 38592077 38592077 C T exonic SCN5A nonsynonymous SNV SCN5A:NM_001099405:exon27:c.G5732A:p.R1911H,SCN5A:NM_001160161:exon27:c.G5624A:p.R1875H,SCN5A:NM_000335:exon28:c.G5783A:p.R1928H,SCN5A:NM_001099404:exon28:c.G5786A:p.R1929H,SCN5A:NM_001160160:exon28:c.G5687A:p.R1896H,SCN5A:NM_198056:exon28:c.G5786A:p.R1929H Score=505;Name=lod=150 ID=COSM241530;OCCURENCE=1(prostate),1(large_intestine) 0.06 172 75 0.304 233 0 0.000 5.77495726446153247e-25 0.520 --- 209,144,65,0.311 199,199,0,0.000 21.385 60 chr3 51312619 51312619 C A exonic DOCK3 synonymous SNV DOCK3:NM_004947:exon25:c.C2658A:p.I886I Score=571;Name=lod=280 139 43 0.236 171 0 0.000 2.89541792763682187e-14 0.512 --- 142,106,36,0.254 136,135,0,0.000 11.475 12.827 chr3 58296274 58296274 T G exonic RPP14 nonsynonymous SNV RPP14:NM_001098783:exon3:c.T118G:p.F40V,RPP14:NM_007042:exon3:c.T118G:p.F40V Score=445;Name=lod=86 0.01 0.997683 C 0.96 D 0.967 D 1.0 D 0.961297 D 5.15 73 35 0.324 77 0 0.000 6.70957721585243816e-10 0.343 --- 91,58,33,0.363 69,68,1,0.014 8.082 60 chr3 89457243 89457243 G T exonic EPHA3 nonsynonymous SNV EPHA3:NM_005233:exon9:c.G1724T:p.G575V Score=512;Name=lod=160 0.38 0.999743 C 0.73 T 0.0080 B 0.995733 N 0.235983 N 4.48 86 30 0.259 103 0 0.000 1.20954066117758779e-09 0.567 --- 90,65,25,0.278 85,85,0,0.000 7.964 11.868 chr3 113658770 113658770 C A exonic GRAMD1C nonsynonymous SNV GRAMD1C:NM_001172105:exon11:c.C1114A:p.L372M,GRAMD1C:NM_017577:exon16:c.C1729A:p.L577M Score=531;Name=lod=192 0.01 0.129709 N 0.85 T 0.014 B 0.991728 N 0.52266 D 0.59 35 18 0.340 66 0 0.000 6.99526289583814837e-08 0.444 --- 37,25,12,0.324 52,52,0,0.000 5.108 60 chr3 170185068 170185068 G A exonic SLC7A14 synonymous SNV SLC7A14:NM_020949:exon8:c.C2091T:p.D697D Score=545;Name=lod=219 141 80 0.362 180 0 0.000 1.31793005426174629e-24 0.400 --- 182,116,66,0.363 156,156,0,0.000 20.381 60 chr3 186953629 186953629 C T exonic MASP1 nonsynonymous SNV MASP1:NM_139125:exon11:c.G2030A:p.R677H Score=546;Name=lod=221 0.2 0.009908 N 0.807609 NA 0.504159 NA 0.872039 N 0.844764 D -6.91 109 82 0.429 192 0 0.000 2.24202321225415086e-30 0.451 --- 167,97,68,0.412 167,166,0,0.000 24.381 60 chr4 898515 898515 G A exonic GAK synonymous SNV GAK:NM_005255:exon5:c.C435T:p.C145C 69 40 0.367 97 0 0.000 1.64730312558345042e-13 0.375 --- 95,59,35,0.372 83,83,0,0.000 11.114 12.598 chr4 55970872 55970872 C G exonic KDR nonsynonymous SNV KDR:NM_002253:exon13:c.G1925C:p.C642S Score=552;Name=lod=233 0 0.999252 C 1.0 D 0.999 D 1.0 D 0.99998 D 5.64 87 54 0.383 115 0 0.000 3.96311323845620275e-17 0.537 --- 124,76,48,0.387 99,99,0,0.000 14.377 60 chr4 57181594 57181594 C T exonic KIAA1211 synonymous SNV KIAA1211:NM_020722:exon8:c.C1926T:p.P642P 149 69 0.317 222 0 0.000 1.38943608399438861e-24 0.507 --- 192,128,63,0.330 181,181,0,0.000 20.837 60 chr4 189013022 189013022 C A exonic TRIML2 nonsynonymous SNV TRIML2:NM_173553:exon7:c.G669T:p.L223F 0.58 0.040176 N 0.25 T 0.0 B 0.593362 N 0.009903 N -5.67 142 40 0.220 175 0 0.000 2.17566266721372234e-13 0.425 --- 145,114,31,0.214 138,137,1,0.007 8.435 60 chr4 189061004 189061004 A G exonic TRIML1 nonsynonymous SNV TRIML1:NM_178556:exon1:c.A292G:p.M98V 0.47 0.215263 N 0.18 T 0.364 P 0.969697 N 0.113768 N -0.00348 125 64 0.339 156 0 0.000 5.66640565831325943e-20 0.516 --- 146,95,51,0.349 129,129,0,0.000 16.185 60 chr5 82833683 82833683 G T exonic VCAN stopgain VCAN:NM_001164097:exon7:c.G1900T:p.E634X,VCAN:NM_004385:exon8:c.G4861T:p.E1621X 0 0.992856 C 0.905019 NA 0.715572 NA 0.89324 N 1.0 A 3.46 164 80 0.328 255 0 0.000 4.92607620410961319e-29 0.562 --- 198,134,64,0.323 221,221,0,0.000 23.620 60 chr5 112128143 112128143 C T exonic APC stopgain APC:NM_000038:exon7:c.C646T:p.R216X,APC:NM_001127510:exon8:c.C646T:p.R216X Score=606;Name=lod=387 ID=COSM98420;OCCURENCE=12(large_intestine) rs62619935 0.32 0.977717 C 0.903962 NA 0.711419 NA 0.883806 N 1.0 A 3.07 49 29 0.372 72 0 0.000 2.78108819940822198e-10 0.552 --- 58,37,21,0.362 60,60,0,0.000 7.455 12.367 chr5 112162804 112162804 G A splicing APC NM_001127511:exon10:c.1355-1G>A,NM_000038:exon12:c.1409-1G>A,NM_001127510:exon13:c.1409-1G>A Score=489;Name=lod=130 ID=COSM1432173;OCCURENCE=1(large_intestine) 63 36 0.364 95 0 0.000 7.60186186303666715e-13 0.722 --- 87,58,28,0.326 79,79,0,0.000 8.997 60 chr5 134332105 134332105 G A exonic CATSPER3 nonsynonymous SNV CATSPER3:NM_178019:exon3:c.G395A:p.R132H 0.08 0.877828 N 0.87 T 0.999 D 0.955769 N 0.639199 D 0.333 81 40 0.331 129 0 0.000 4.57048929034144845e-15 0.425 --- 109,72,37,0.339 112,112,0,0.000 12.983 60 chr5 140256977 140256977 G A exonic PCDHA12 synonymous SNV PCDHA12:NM_018903:exon1:c.G1920A:p.A640A,PCDHA12:NM_031864:exon1:c.G1920A:p.A640A 365 148 0.288 458 0 0.000 9.66384160693525685e-47 0.459 --- 441,316,125,0.283 393,392,0,0.000 38.725 60 chr5 140731370 140731370 G A exonic PCDHGB1 nonsynonymous SNV PCDHGB1:NM_018922:exon1:c.G1543A:p.A515T,PCDHGB1:NM_032095:exon1:c.G1543A:p.A515T Score=517;Name=lod=168 352 178 0.336 466 4 0.009 3.25408548028760563e-50 0.590 0.500 450,304,144,0.321 387,385,2,0.005 40.936 60 chr5 141334539 141334539 G T exonic PCDH12 nonsynonymous SNV PCDH12:NM_016580:exon1:c.C2878A:p.Q960K Score=407;Name=lod=60 0.02 0.999125 C 0.92 T 0.997 D 1.0 D 0.796437 D 4.08 122 46 0.274 148 0 0.000 8.94213001640010367e-15 0.652 --- 138,97,41,0.297 125,125,0,0.000 12.746 14.654 chr5 159520124 159520124 G A exonic PWWP2A synonymous SNV PWWP2A:NM_001130864:exon2:c.C1533T:p.T511T,PWWP2A:NM_001267035:exon2:c.C1533T:p.T511T,PWWP2A:NM_052927:exon2:c.C1533T:p.T511T Score=651;Name=lod=589 128 54 0.297 148 0 0.000 2.09240713634573304e-16 0.500 --- 159,111,48,0.302 128,128,0,0.000 13.795 60 chr5 176707570 176707570 A G exonic NSD1 nonsynonymous SNV NSD1:NM_022455:exon18:c.A5627G:p.N1876S,NSD1:NM_172349:exon19:c.A4820G:p.N1607S Score=455;Name=lod=94 0.01 0.998812 C 1.0 D 0.995 D 0.999998 D 0.269218 N 5.33 59 30 0.337 89 0 0.000 9.76044620067858575e-11 0.733 --- 81,52,29,0.358 80,80,0,0.000 9.760 60 chr6 15497044 15497044 C A exonic JARID2 nonsynonymous SNV JARID2:NM_001267040:exon7:c.C1072A:p.P358T,JARID2:NM_004973:exon7:c.C1588A:p.P530T Score=541;Name=lod=211 1 0.220277 N 0.81 T 0.0 B 0.935084 N 0.657737 D -1.04 111 46 0.293 138 0 0.000 7.04039051905575266e-15 0.565 --- 134,93,39,0.295 120,120,0,0.000 12.076 15.477 chr6 30552108 30552108 G T exonic ABCF1 nonsynonymous SNV ABCF1:NM_001090:exon12:c.G1128T:p.K376N,ABCF1:NM_001025091:exon13:c.G1242T:p.K414N Score=429;Name=lod=74 0.02 0.999123 C 0.89 T 0.475 P 1.0 D 0.649887 NA 4.08 186 106 0.363 235 0 0.000 3.34458209658443476e-32 0.453 --- 259,163,96,0.371 201,201,0,0.000 28.080 60 chr6 41162479 41162479 G A exonic TREML2 nonsynonymous SNV TREML2:NM_024807:exon3:c.C469T:p.P157S 0.02 0.215263 N 1.0 D 0.426795 NA 0.532847 N 0.200878 N -3.41 150 70 0.318 157 0 0.000 1.82303209046436083e-19 0.414 --- 174,121,53,0.305 130,130,0,0.000 14.350 60 chr6 128134283 128134283 G A exonic THEMIS synonymous SNV THEMIS:NM_001010923:exon4:c.C1503T:p.C501C,THEMIS:NM_001164685:exon4:c.C1503T:p.C501C,THEMIS:NM_001164687:exon4:c.C1398T:p.C466C Score=439;Name=lod=81 159 71 0.309 214 0 0.000 1.32264343934982232e-23 0.662 --- 197,131,66,0.335 187,186,0,0.000 21.830 60 chr6 151748624 151748624 T C exonic RMND1 nonsynonymous SNV RMND1:NM_001271937:exon5:c.A313G:p.K105E,RMND1:NM_017909:exon6:c.A823G:p.K275E Score=395;Name=lod=54 0.27 0.970217 C 0.0 T 0.871 D 0.991997 N 0.006236 N 4.01 51 13 0.203 41 0 0.000 0.00143459621206532919 0.462 --- 50,37,12,0.245 32,32,0,0.000 2.607 9.988 chr7 2582845 2582845 C T exonic BRAT1 nonsynonymous SNV BRAT1:NM_152743:exon6:c.G916A:p.E306K 0.000077 0.41 0.990385 C 0.97 D 0.59898 NA 0.921493 N 0.306228 N 2.59 192 46 0.193 163 0 0.000 5.84223292695779268e-12 0.674 --- 207,164,43,0.208 140,140,0,0.000 10.448 12.069 chr7 17937007 17937007 T C exonic SNX13 synonymous SNV SNX13:NM_015132:exon2:c.A75G:p.G25G Score=686;Name=lod=818 65 50 0.435 91 0 0.000 4.93349678155626874e-16 0.420 --- 87,51,36,0.414 71,71,0,0.000 11.054 60 chr8 110397822 110397822 G T exonic PKHD1L1 nonsynonymous SNV PKHD1L1:NM_177531:exon6:c.G532T:p.A178S Score=596;Name=lod=353 0.1 71 24 0.253 86 0 0.000 4.16636739146114821e-08 0.458 --- 75,57,18,0.240 68,66,2,0.029 3.674 11.238 chr9 21187146 21187146 C T exonic IFNA4 nonsynonymous SNV IFNA4:NM_021068:exon1:c.G385A:p.V129M Score=0.942811;Name=chr9:21186709,chr9:21165785 ID=COSM1107790;OCCURENCE=1(endometrium) rs1062573 0.08 8.1E-5 N 0.89 T 0.0 B 0.11263 N 0.0 NA -5.34 218 70 0.243 312 0 0.000 3.39218437713141721e-25 0.329 --- 254,183,71,0.280 268,268,0,0.000 24.752 60 chr9 21187179 21187179 C T exonic IFNA4 nonsynonymous SNV IFNA4:NM_021068:exon1:c.G352A:p.D118N Score=0.942811;Name=chr9:21165785,chr9:21186709 ID=COSM1107791;OCCURENCE=1(endometrium) rs1062572 0.03 0.989286 C 0.99 D 0.0050 B 0.532622 N 0.303798 NA 1.46 194 66 0.254 278 0 0.000 1.08248436937642692e-23 0.470 --- 245,178,67,0.273 255,255,0,0.000 23.077 60 chr9 32542476 32542476 G A exonic TOPORS nonsynonymous SNV TOPORS:NM_001195622:exon2:c.C1852T:p.R618W,TOPORS:NM_005802:exon3:c.C2047T:p.R683W Score=573;Name=lod=284 0.000154 rs143249653 0 0.999823 C 1.0 D 0.573802 NA 0.92416 N 0.114805 N 4.67 101 40 0.284 139 0 0.000 7.38299207001788032e-14 0.525 --- 123,88,35,0.285 129,129,0,0.000 12.157 60 chr10 38345115 38345115 C T exonic ZNF33A nonsynonymous SNV ZNF33A:NM_006954:exon5:c.C2063T:p.T688M,ZNF33A:NM_006974:exon5:c.C2060T:p.T687M Score=473;Name=lod=112 Score=0.928956;Name=chr10:43037558 0.000154 rs146461823 0.04 0.958507 C 0.9 T 0.983 D 0.997274 N 0.395742 N 1.57 149 61 0.290 242 0 0.000 2.10288304335430806e-23 0.459 --- 183,129,53,0.291 206,206,0,0.000 19.467 60 chr10 55996637 55996637 G A exonic PCDH15 nonsynonymous SNV PCDH15:NM_001142767:exon8:c.C820T:p.R274W,PCDH15:NM_001142768:exon8:c.C865T:p.R289W,PCDH15:NM_001142773:exon8:c.C865T:p.R289W,PCDH15:NM_001142764:exon9:c.C931T:p.R311W,PCDH15:NM_001142765:exon9:c.C931T:p.R311W,PCDH15:NM_001142766:exon9:c.C931T:p.R311W,PCDH15:NM_033056:exon9:c.C931T:p.R311W,PCDH15:NM_001142763:exon10:c.C946T:p.R316W Score=596;Name=lod=352 ID=COSM313924,COSM313922,COSM313923;OCCURENCE=1(lung) 0 0.985513 C 1.0 D 0.999 D 1.0 NA 0.999991 D 3.5 80 53 0.398 123 0 0.000 2.34525026580525732e-18 0.491 --- 106,66,40,0.377 96,96,0,0.000 12.916 60 chr11 5221636 5221636 G A exonic OR51V1 stopgain OR51V1:NM_001004760:exon1:c.C295T:p.R99X 1 0.160313 N 0.846101 NA 0.495738 NA 0.422754 N 1.0 D -3.32 99 39 0.283 126 0 0.000 9.97783893871642034e-13 0.513 --- 116,85,31,0.267 103,103,0,0.000 9.281 60 chr11 6245177 6245177 C T exonic FAM160A2 nonsynonymous SNV FAM160A2:NM_001098794:exon3:c.G440A:p.R147Q,FAM160A2:NM_032127:exon3:c.G440A:p.R147Q Score=653;Name=lod=600 0.3 0.979584 C 0.68 T 0.027 B 0.998798 N 0.416314 N 2.11 235 106 0.311 258 0 0.000 3.63594553844654105e-30 0.538 --- 289,198,91,0.315 221,221,0,0.000 25.602 60 chr11 48164526 48164526 A G exonic PTPRJ synonymous SNV PTPRJ:NM_002843:exon12:c.A2499G:p.V833V 111 52 0.319 97 0 0.000 7.83066336580126875e-13 0.558 --- 134,89,44,0.331 84,84,0,0.000 10.680 60 chr11 62549651 62549651 C T exonic TAF6L nonsynonymous SNV TAF6L:NM_006473:exon8:c.C673T:p.R225C Score=671;Name=lod=714 ID=COSM293163;OCCURENCE=1(large_intestine) 0.03 0.934087 N 0.88 T 0.976 D 0.999602 D 0.868783 D 2.66 137 64 0.318 153 0 0.000 1.14406185539444248e-18 0.547 --- 167,112,55,0.329 130,130,0,0.000 15.704 60 chr11 67222946 67222946 C T exonic CABP4 nonsynonymous SNV CABP4:NM_145200:exon1:c.C52T:p.R18C 0.02 0.229599 N 1.0 D 0.0010 B 1.0E-4 N 7.6E-5 N -0.54 147 32 0.179 157 0 0.000 6.17130194399518669e-10 0.531 --- 146,121,24,0.166 129,129,0,0.000 7.038 11.059 chr13 53420687 53420687 T C exonic PCDH8 nonsynonymous SNV PCDH8:NM_002590:exon1:c.A1885G:p.K629E,PCDH8:NM_032949:exon1:c.A1885G:p.K629E 0.13 0.074297 N 0.2 T 0.0040 B 0.654543 N 0.082441 N 3.0 416 74 0.151 199 0 0.000 3.46604523120657181e-12 0.392 --- 432,364,65,0.152 172,172,0,0.000 10.038 14.122 chr13 103401347 103401347 G A exonic CCDC168 nonsynonymous SNV CCDC168:NM_001146197:exon4:c.C1700T:p.P567L 0.01 rs116890855 257 50 0.163 139 0 0.000 4.06227412866836565e-09 0.320 --- 254,210,44,0.173 109,108,0,0.000 7.157 15.0 chr14 20781954 20781954 G A exonic CCNB1IP1 stopgain CCNB1IP1:NM_182849:exon5:c.C304T:p.Q102X,CCNB1IP1:NM_021178:exon6:c.C304T:p.Q102X,CCNB1IP1:NM_182852:exon7:c.C304T:p.Q102X Score=655;Name=lod=611 0 0.992415 C 0.903262 NA 0.734312 NA 1.0 D 1.0 A 4.35 44 30 0.405 111 0 0.000 1.44559580923375825e-14 0.333 --- 61,36,25,0.410 90,89,0,0.000 11.347 13.195 chr14 44975756 44975756 G A exonic FSCB synonymous SNV FSCB:NM_032135:exon1:c.C435T:p.I145I 39 62 0.614 147 0 0.000 6.82288238730183373e-32 0.484 --- 83,32,51,0.614 123,123,0,0.000 25.892 60 chr15 23892013 23892013 C A exonic MAGEL2 nonsynonymous SNV MAGEL2:NM_019066:exon1:c.G877T:p.G293C Score=243;Name=lod=13 112 217 0.660 322 0 0.000 8.68881796655252684e-89 0.622 --- 299,97,201,0.674 288,288,0,0.000 60.000 60 chr15 41829301 41829301 C G exonic RPAP1 nonsynonymous SNV RPAP1:NM_015540:exon2:c.G23C:p.G8A Score=431;Name=lod=75 0.06 0.999007 C 0.77 T 0.325 P 0.999262 N 0.979471 D 4.28 36 84 0.700 102 0 0.000 1.13050161466388493e-32 0.310 --- 103,28,75,0.728 88,87,0,0.000 28.991 60 chr15 49089578 49089578 T C exonic CEP152 nonsynonymous SNV CEP152:NM_001194998:exon5:c.A460G:p.T154A,CEP152:NM_014985:exon5:c.A460G:p.T154A 0.11 0.859728 N 0.9 T 0.049 B 0.976258 N 0.050199 N 1.47 42 97 0.698 123 0 0.000 2.60264604168093185e-38 0.515 --- 110,31,79,0.718 105,104,0,0.000 32.571 60 chr16 23224037 23224037 G T exonic SCNN1G stopgain SCNN1G:NM_001039:exon9:c.G1333T:p.E445X Score=452;Name=lod=92 0.04 0.999517 C 0.90383 NA 0.73548 NA 1.0 D 1.0 A 5.06 56 30 0.349 70 0 0.000 1.9725135326349035e-09 0.633 --- 70,45,25,0.357 60,60,0,0.000 7.630 15.955 chr16 58608624 58608624 C T exonic CNOT1 nonsynonymous SNV CNOT1:NM_001265612:exon16:c.G1868A:p.R623Q,CNOT1:NM_016284:exon16:c.G1868A:p.R623Q,CNOT1:NM_206999:exon16:c.G1868A:p.R623Q Score=700;Name=lod=930 0 0.997802 C 0.99 D 1.0 D 1.0 D 0.999944 D 4.63 179 105 0.370 272 0 0.000 3.27388066739532877e-36 0.457 --- 226,142,84,0.372 227,224,0,0.000 29.108 60 chr16 70691024 70691024 G A exonic IL34 synonymous SNV IL34:NM_001172771:exon5:c.G399A:p.T133T,IL34:NM_001172772:exon5:c.G402A:p.T134T,IL34:NM_152456:exon5:c.G402A:p.T134T Score=304;Name=lod=23 0.000077 74 35 0.321 90 0 0.000 5.84668550879941547e-11 0.400 --- 92,64,28,0.304 80,80,0,0.000 8.433 12.923 chr16 88501365 88501365 G A exonic ZNF469 nonsynonymous SNV ZNF469:NM_001127464:exon2:c.G7403A:p.R2468Q 0 175 94 0.349 226 0 0.000 1.49455380628095941e-29 0.521 --- 236,154,82,0.347 194,194,0,0.000 24.724 60 chr16 89357087 89357087 G A exonic ANKRD11 nonsynonymous SNV ANKRD11:NM_001256183:exon6:c.C547T:p.R183C,ANKRD11:NM_013275:exon6:c.C547T:p.R183C,ANKRD11:NM_001256182:exon7:c.C547T:p.R183C Score=516;Name=lod=167 0.09 0.99964 C 0.99 D 1.0 D 1.0 D 0.993971 D 5.28 157 79 0.335 205 0 0.000 3.44864779988283714e-25 0.532 --- 187,125,62,0.332 158,157,0,0.000 18.692 60 chr17 3030772 3030772 T A exonic OR1G1 nonsynonymous SNV OR1G1:NM_003555:exon1:c.A74T:p.K25M 0.13 0.083555 N 0.9 T 0.0 B 0.5828 NA 7.51E-4 N -0.709 116 43 0.270 162 0 0.000 2.74489915267254119e-15 0.256 --- 129,94,35,0.271 136,135,0,0.000 12.071 60 chr17 7579350 7579350 A C exonic TP53 nonsynonymous SNV TP53:NM_001126118:exon3:c.T220G:p.F74V,TP53:NM_000546:exon4:c.T337G:p.F113V,TP53:NM_001126112:exon4:c.T337G:p.F113V,TP53:NM_001126113:exon4:c.T337G:p.F113V,TP53:NM_001126114:exon4:c.T337G:p.F113V,TP53:NM_001276695:exon4:c.T220G:p.F74V,TP53:NM_001276696:exon4:c.T220G:p.F74V,TP53:NM_001276760:exon4:c.T220G:p.F74V,TP53:NM_001276761:exon4:c.T220G:p.F74V Score=519;Name=lod=171 ID=COSM11498,COSM165071,COSM165070;OCCURENCE=1(breast),1(lung),1(upper_aerodigestive_tract),1(oesophagus),1(central_nervous_system) 0 0.998703 C 1.0 D 1.0 D 1.0 D 0.999985 D 4.17 123 58 0.320 141 0 0.000 2.83082205403973303e-17 0.638 --- 156,104,52,0.333 117,117,0,0.000 14.542 11.629 chr17 7979528 7979528 G A exonic ALOX12B synonymous SNV ALOX12B:NM_001139:exon11:c.C1497T:p.R499R 0.000154 128 65 0.337 166 0 0.000 7.37392073771044793e-21 0.523 --- 152,101,51,0.336 140,140,0,0.000 16.396 60 chr17 18024037 18024037 G A exonic MYO15A synonymous SNV MYO15A:NM_016239:exon2:c.G1923A:p.A641A 84 55 0.396 141 0 0.000 2.17849277316166216e-20 0.200 --- 119,74,45,0.378 117,117,0,0.000 15.464 15.256 chr17 30325780 30325780 C T exonic SUZ12 synonymous SNV SUZ12:NM_015355:exon16:c.C1978T:p.L660L Score=744;Name=lod=1413 112 48 0.300 117 0 0.000 1.97627464569123278e-13 0.479 --- 134,95,39,0.291 97,97,0,0.000 10.264 15.477 chr17 43481008 43481008 T G exonic ARHGAP27 nonsynonymous SNV ARHGAP27:NM_199282:exon8:c.A592C:p.K198Q Score=284;Name=lod=19 0.19 0.998266 C 0.83 T 0.984 D 1.0 D 0.758817 NA 4.55 97 40 0.292 105 0 0.000 8.55585052942999105e-12 0.500 --- 111,77,33,0.300 88,88,0,0.000 9.419 12.971 chr17 48227693 48227693 A C exonic PPP1R9B unknown UNKNOWN Score=688;Name=lod=830 0 67 58 0.464 122 0 0.000 1.44528567065952541e-21 0.362 --- 122,68,54,0.443 112,110,0,0.000 18.196 60 chr17 74288293 74288293 G A exonic QRICH2 nonsynonymous SNV QRICH2:NM_032134:exon4:c.C2017T:p.R673C 0.07 0.990206 C 0.95 T 0.854 D 0.872553 NA 4.6E-5 N 2.62 288 93 0.244 393 0 0.000 3.5318636831961381e-32 0.613 --- 351,251,91,0.266 331,329,0,0.000 29.581 60 chr18 22804315 22804315 C T exonic ZNF521 synonymous SNV ZNF521:NM_015461:exon4:c.G3567A:p.S1189S Score=572;Name=lod=282 0.000077 0.0005 ID=COSM1179654;OCCURENCE=1(prostate) rs151163286 52 58 0.527 180 1 0.006 5.00571023097020175e-29 0.724 1.000 96,46,50,0.521 151,150,1,0.007 23.470 60 chr18 55024403 55024403 C T exonic ST8SIA3 nonsynonymous SNV ST8SIA3:NM_015879:exon3:c.C562T:p.R188C Score=769;Name=lod=1776 ID=COSM989116;OCCURENCE=1(endometrium) 0 0.999241 C 1.0 D 1.0 D 1.0 D 0.999981 D 5.61 63 77 0.550 160 0 0.000 5.54357177485912338e-33 0.506 --- 115,51,64,0.557 142,141,0,0.000 28.108 60 chr18 70209205 70209205 C A exonic CBLN2 nonsynonymous SNV CBLN2:NM_182511:exon3:c.G191T:p.C64F Score=674;Name=lod=729 0 0.997802 C 1.0 D 0.999 D 1.0 D 0.999199 D 2.86 78 64 0.451 165 0 0.000 1.86879581804768677e-26 0.469 --- 127,70,57,0.449 149,149,0,0.000 23.029 60 chr19 2115357 2115357 A T exonic AP3D1 nonsynonymous SNV AP3D1:NM_001261826:exon20:c.T2210A:p.L737Q,AP3D1:NM_003938:exon20:c.T2210A:p.L737Q Score=590;Name=lod=333 0.5 0.996533 C 0.854968 NA 0.608982 NA 0.954977 N 0.60167 D 4.32 148 75 0.336 207 0 0.000 3.27334060051280299e-25 0.453 --- 192,130,62,0.323 183,183,0,0.000 20.518 60 chr19 8486730 8486730 G A exonic MARCH2 synonymous SNV MARCH2:NM_001005415:exon2:c.G6A:p.T2T,MARCH2:NM_001005416:exon2:c.G6A:p.T2T,MARCH2:NM_016496:exon3:c.G6A:p.T2T Score=541;Name=lod=210 0.0009 rs201174087 80 19 0.192 107 0 0.000 3.33894417576641207e-07 0.737 --- 84,67,17,0.202 95,95,0,0.000 5.999 6.729 chr19 11141453 11141453 G T exonic SMARCA4 stopgain SMARCA4:NM_001128845:exon24:c.G3430T:p.E1144X,SMARCA4:NM_001128846:exon24:c.G3430T:p.E1144X,SMARCA4:NM_001128847:exon24:c.G3430T:p.E1144X,SMARCA4:NM_001128848:exon24:c.G3430T:p.E1144X,SMARCA4:NM_001128849:exon25:c.G3430T:p.E1144X,SMARCA4:NM_003072:exon25:c.G3430T:p.E1144X,SMARCA4:NM_001128844:exon26:c.G3430T:p.E1144X Score=529;Name=lod=188 0.07 0.999292 C 0.903812 NA 0.735443 NA 0.999998 D 1.0 A 4.24 64 38 0.373 91 0 0.000 6.90533894296562503e-13 0.605 --- 81,49,32,0.395 75,75,0,0.000 10.698 60 chr19 21131995 21131995 G T exonic ZNF85 synonymous SNV ZNF85:NM_001256173:exon3:c.G483T:p.T161T,ZNF85:NM_003429:exon4:c.G675T:p.T225T,ZNF85:NM_001256171:exon5:c.G765T:p.T255T Score=432;Name=lod=76 117 23 0.164 160 0 0.000 8.55673986120634057e-09 0.391 --- 123,99,15,0.132 142,142,0,0.000 5.507 7.222 chr19 21132007 21132007 T C exonic ZNF85 synonymous SNV ZNF85:NM_001256173:exon3:c.T495C:p.P165P,ZNF85:NM_003429:exon4:c.T687C:p.P229P,ZNF85:NM_001256171:exon5:c.T777C:p.P259P 123 17 0.121 161 0 0.000 1.28513437548051807e-06 0.353 --- 119,102,8,0.073 138,137,1,0.007 1.929 8.299 chr19 21132041 21132041 C T exonic ZNF85 stopgain ZNF85:NM_001256173:exon3:c.C529T:p.Q177X,ZNF85:NM_003429:exon4:c.C721T:p.Q241X,ZNF85:NM_001256171:exon5:c.C811T:p.Q271X 0.16 0.833287 N 0.891068 NA 0.702488 NA 0.967917 NA 1.0 D 0.0876 121 16 0.117 182 0 0.000 7.89479875252347052e-07 0.500 --- 117,102,9,0.081 151,151,0,0.000 3.441 9.653 chr19 21132042 21132042 A G exonic ZNF85 nonsynonymous SNV ZNF85:NM_001256173:exon3:c.A530G:p.Q177R,ZNF85:NM_003429:exon4:c.A722G:p.Q241R,ZNF85:NM_001256171:exon5:c.A812G:p.Q271R 0.4 0.832517 N 0.51 T 0.0010 B 0.803084 NA 8.31E-4 N 0.0876 123 16 0.115 185 0 0.000 7.82159878688459716e-07 0.500 --- 118,103,9,0.080 152,152,0,0.000 3.435 10.213 chr19 21132051 21132051 A C exonic ZNF85 nonsynonymous SNV ZNF85:NM_001256173:exon3:c.A539C:p.N180T,ZNF85:NM_003429:exon4:c.A731C:p.N244T,ZNF85:NM_001256171:exon5:c.A821C:p.N274T 0.63 0.077085 N 0.27 T 0.0 B 0.60689 NA 0.010061 N -0.627 127 22 0.148 177 0 0.000 1.33597536692313886e-08 0.591 --- 128,107,15,0.123 149,149,0,0.000 5.417 6.619 chr19 21132057 21132057 T C exonic ZNF85 nonsynonymous SNV ZNF85:NM_001256173:exon3:c.T545C:p.I182T,ZNF85:NM_003429:exon4:c.T737C:p.I246T,ZNF85:NM_001256171:exon5:c.T827C:p.I276T 1 0.062513 N 0.0 T 0.0 B 0.612735 NA 0.005363 N -1.28 119 29 0.196 171 0 0.000 4.18263296085345953e-11 0.621 --- 136,106,22,0.172 145,145,0,0.000 7.691 11.565 chr19 21132069 21132069 A G exonic ZNF85 nonsynonymous SNV ZNF85:NM_001256173:exon3:c.A557G:p.K186R,ZNF85:NM_003429:exon4:c.A749G:p.K250R,ZNF85:NM_001256171:exon5:c.A839G:p.K280R Score=417;Name=lod=66 0.98 0.077085 N 0.24 T 0.0 B 0.606818 NA 0.001435 N -1.6 121 33 0.214 165 0 0.000 5.02600745452577127e-12 0.636 --- 142,109,27,0.199 143,143,0,0.000 9.063 60 chr19 30935326 30935326 G A exonic ZNF536 nonsynonymous SNV ZNF536:NM_014717:exon2:c.G857A:p.R286H Score=566;Name=lod=265 0.13 0.999611 C 0.76 T 0.999 D 1.0 D 0.92431 D 5.23 259 121 0.318 312 0 0.000 1.03843082651487419e-36 0.463 --- 347,237,109,0.315 282,282,0,0.000 32.142 60 chr19 36431007 36431007 G A exonic LRFN3 nonsynonymous SNV LRFN3:NM_024509:exon2:c.G680A:p.R227H Score=371;Name=lod=43 ID=COSM1393016;OCCURENCE=1(large_intestine) 0.11 0.998981 C 0.91 T 0.927 D 0.994274 N 0.327691 N 4.5 167 48 0.223 226 0 0.000 5.1200259029711186e-17 0.479 --- 194,147,47,0.242 185,184,0,0.000 14.935 14.699 chr19 48035489 48035489 G A exonic ZNF541 nonsynonymous SNV ZNF541:NM_001277075:exon9:c.C3197T:p.P1066L Score=489;Name=lod=130 0 82 59 0.418 100 0 0.000 4.42495173839191374e-17 0.458 --- 109,64,45,0.413 80,80,0,0.000 12.880 60 chr20 21687676 21687676 T C exonic PAX1 nonsynonymous SNV PAX1:NM_001257096:exon2:c.T887C:p.L296P,PAX1:NM_006192:exon2:c.T887C:p.L296P Score=594;Name=lod=346 0 0.996353 C 1.0 D 0.989 D 1.0 D 0.788643 NA 4.66 250 80 0.242 222 0 0.000 1.95467755188659891e-20 0.363 --- 277,208,69,0.249 191,190,0,0.000 17.312 60 chr20 30388802 30388802 C G exonic TPX2 stopgain TPX2:NM_012112:exon18:c.C2163G:p.Y721X Score=559;Name=lod=249 0.01 0.951026 C 0.859457 NA 0.630603 NA 0.999981 D 0.673106 NA 3.02 183 33 0.153 103 0 0.000 1.65016374608584872e-06 0.545 --- 176,150,25,0.143 81,81,0,0.000 4.250 13.683 chr20 37353400 37353400 C T exonic SLC32A1 synonymous SNV SLC32A1:NM_080552:exon1:c.C33T:p.N11N Score=554;Name=lod=237 316 76 0.194 189 0 0.000 9.94068357257096742e-15 0.645 --- 332,269,62,0.187 153,152,0,0.000 10.795 12.074 chr20 39316944 39316944 G A exonic MAFB synonymous SNV MAFB:NM_005461:exon1:c.C547T:p.L183L Score=626;Name=lod=466 338 90 0.210 306 2 0.006 8.95828282116938569e-21 0.589 0.500 360,278,82,0.228 261,260,1,0.004 19.476 15.955 chr20 44672526 44672526 G A exonic SLC12A5 nonsynonymous SNV SLC12A5:NM_001134771:exon11:c.G1417A:p.V473I,SLC12A5:NM_020708:exon11:c.G1348A:p.V450I Score=578;Name=lod=299 0.12 0.998548 C 0.99 D 0.026 B 0.999996 D 0.98588 D 3.71 75 87 0.537 90 0 0.000 1.4880923858440148e-22 0.552 --- 154,67,84,0.556 83,83,0,0.000 21.161 60 chr20 44672565 44672565 C T exonic SLC12A5 nonsynonymous SNV SLC12A5:NM_001134771:exon11:c.C1456T:p.R486W,SLC12A5:NM_020708:exon11:c.C1387T:p.R463W Score=578;Name=lod=299 ID=COSM1265675;OCCURENCE=1(oesophagus) 0 0.949653 N 1.0 D 0.999 D 1.0 D 0.999828 D 2.58 67 67 0.500 76 0 0.000 3.44000277450667102e-17 0.582 --- 129,59,66,0.528 70,70,0,0.000 16.490 60 chr20 61443643 61443643 G A exonic OGFR nonsynonymous SNV OGFR:NM_007346:exon7:c.G676A:p.E226K Score=503;Name=lod=147 0.01 0.97949 C 0.95 T 0.97 D 0.999794 D 0.046369 N 3.22 243 45 0.156 137 0 0.000 9.82919437893350937e-09 0.511 --- 238,196,41,0.173 110,110,0,0.000 7.012 4.932 chr21 46117746 46117746 C T exonic KRTAP10-12 synonymous SNV KRTAP10-12:NM_198699:exon1:c.C630T:p.P210P 0.008934 0.01 0.0082 rs112431728 326 55 0.144 329 0 0.000 2.80503037613684007e-16 0.382 --- 327,278,49,0.150 280,280,0,0.000 13.738 10.203 chr22 41752751 41752751 G A exonic ZC3H7B nonsynonymous SNV ZC3H7B:NM_017590:exon22:c.G2620A:p.D874N Score=586;Name=lod=321 0.01 0.999569 C 0.99 D 0.293 P 0.998554 N 0.103733 N 5.14 192 85 0.307 216 0 0.000 7.2226126926556376e-25 0.529 --- 234,163,71,0.303 178,178,0,0.000 19.625 60 chrX 11139907 11139907 G A exonic HCCS nonsynonymous SNV HCCS:NM_001122608:exon7:c.G784A:p.A262T,HCCS:NM_001171991:exon7:c.G784A:p.A262T,HCCS:NM_005333:exon7:c.G784A:p.A262T Score=559;Name=lod=250 0.14 0.994179 C 0.9 T 0.0080 B 0.999999 D 0.999958 D 4.26 39 53 0.576 58 0 0.000 1.09225800488398614e-15 0.509 --- 75,35,40,0.533 48,48,0,0.000 10.860 12.381 chrX 34149231 34149231 G T exonic FAM47A nonsynonymous SNV FAM47A:NM_203408:exon1:c.C1165A:p.P389T 0.02 0.87527 N 0.82 T 0.956 D 0.851634 NA 0.001993 N 0.176 58 201 0.776 137 0 0.000 6.39714825363571442e-60 0.493 --- 228,50,178,0.781 116,116,0,0.000 51.207 60