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 898262 898262 G A exonic KLHL17 nonsynonymous SNV KLHL17:NM_198317:exon6:c.G1007A:p.R336H Score=452;Name=lod=92 0.000077 rs148661653 0.02 0.99945 C 1.0 D 0.998 D 1.0 D 0.999078 D 4.97 151 38 0.201 173 0 0.000 2.65732648828648188e-12 0.474 --- 170,136,34,0.200 150,150,0,0.000 9.934 11.368 chr1 983571 983571 C A exonic AGRN nonsynonymous SNV AGRN:NM_198576:exon23:c.C3931A:p.P1311T 0.16 0.876982 N 1.0 D 0.0010 B 0.984602 N 0.017974 N -0.146 158 32 0.168 169 0 0.000 6.4941814580877374e-10 0.719 --- 173,145,28,0.162 151,151,0,0.000 7.902 5.153 chr1 1271790 1271790 G A exonic DVL1 nonsynonymous SNV DVL1:NM_004421:exon15:c.C1745T:p.T582M 0.000080 rs142013934 0.03 0.999329 C 0.94 T 0.543188 NA 0.984311 N 0.078502 N 4.29 256 50 0.163 276 0 0.000 1.71351591720791706e-15 0.520 --- 271,225,46,0.170 233,233,0,0.000 13.222 12.393 chr1 1471029 1471029 C A exonic TMEM240 nonsynonymous SNV TMEM240:NM_001114748:exon3:c.G313T:p.V105L Score=706;Name=lod=988 0.000219 0.23 179 20 0.101 231 0 0.000 1.18483131716189124e-07 0.450 --- 174,155,19,0.109 192,192,0,0.000 6.372 11.153 chr1 1562050 1562050 C T exonic MIB2 synonymous SNV MIB2:NM_001170688:exon8:c.C1143T:p.G381G,MIB2:NM_001170689:exon8:c.C798T:p.G266G,MIB2:NM_001170686:exon9:c.C1326T:p.G442G,MIB2:NM_001170687:exon9:c.C1296T:p.G432G,MIB2:NM_080875:exon9:c.C1338T:p.G446G Score=496;Name=lod=138 110 19 0.147 105 0 0.000 9.07391390044803979e-06 0.737 --- 111,92,19,0.171 89,89,0,0.000 5.071 4.898 chr1 1562274 1562274 G A exonic MIB2 nonsynonymous SNV MIB2:NM_001170688:exon9:c.G1285A:p.A429T,MIB2:NM_001170689:exon9:c.G940A:p.A314T,MIB2:NM_001170686:exon10:c.G1468A:p.A490T,MIB2:NM_001170687:exon10:c.G1438A:p.A480T,MIB2:NM_080875:exon10:c.G1480A:p.A494T Score=387;Name=lod=50 0.14 0.975341 C 0.94 T 0.0060 B 0.999192 N 0.747114 D -0.283 221 39 0.150 207 0 0.000 3.39222669530107592e-11 0.615 --- 222,192,30,0.135 189,189,0,0.000 8.354 15.0 chr1 1647843 1647843 G A exonic CDK11A,CDK11B nonsynonymous SNV CDK11A:NM_024011:exon5:c.C430T:p.R144W,CDK11B:NM_033486:exon5:c.C430T:p.R144W,CDK11B:NM_033492:exon5:c.C397T:p.R133W,CDK11B:NM_033493:exon5:c.C397T:p.R133W,CDK11A:NM_033529:exon5:c.C400T:p.R134W,CDK11B:NM_033488:exon6:c.C295T:p.R99W,CDK11B:NM_033489:exon6:c.C328T:p.R110W 0.000163 0.0005 rs200272503 0 26 12 0.316 41 0 0.000 5.28704126077147464e-05 0.417 --- 28,18,10,0.357 37,37,0,0.000 4.135 13.917 chr1 2491350 2491350 C T exonic TNFRSF14 synonymous SNV TNFRSF14:NM_003820:exon4:c.C393T:p.D131D 5.08E-4 N 0.3 T 0.72 P 0.290855 U 0.43246 N -5.6 339 78 0.187 364 0 0.000 1.41382757428540897e-23 0.436 --- 350,278,72,0.206 304,304,0,0.000 21.172 14.955 chr1 3301722 3301722 G A exonic PRDM16 nonsynonymous SNV PRDM16:NM_022114:exon4:c.G445A:p.E149K,PRDM16:NM_199454:exon4:c.G445A:p.E149K Score=313;Name=lod=25 0.01 0.998814 C 1.0 D 0.243 P 0.92673 U 0.013779 N 4.39 92 25 0.214 111 0 0.000 1.7295261218116177e-08 0.600 --- 92,74,18,0.196 93,93,0,0.000 5.863 10.703 chr1 3313120 3313120 C T exonic PRDM16 synonymous SNV PRDM16:NM_022114:exon5:c.C639T:p.G213G,PRDM16:NM_199454:exon5:c.C639T:p.G213G 41 7 0.146 86 0 0.000 0.00056096422421686419 0.286 --- 42,35,7,0.167 64,64,0,0.000 2.956 6.146 chr1 3328471 3328471 G A exonic PRDM16 synonymous SNV PRDM16:NM_022114:exon9:c.G1710A:p.T570T,PRDM16:NM_199454:exon9:c.G1710A:p.T570T 206 34 0.142 257 0 0.000 4.86059041457044972e-12 0.412 --- 214,181,32,0.150 223,223,0,0.000 10.514 13.759 chr1 3422686 3422686 C T exonic MEGF6 nonsynonymous SNV MEGF6:NM_001409:exon15:c.G1904A:p.R635H Score=484;Name=lod=124 0.000081 0.01 0.993469 C 0.96 D 1.0 D 0.999992 U 0.02495 N 3.64 171 23 0.119 214 0 0.000 1.81559237386376268e-08 0.783 --- 163,142,20,0.123 173,173,0,0.000 6.590 5.927 chr1 3547548 3547548 G A exonic WRAP73 synonymous SNV WRAP73:NM_017818:exon12:c.C1374T:p.G458G 195 39 0.167 201 0 0.000 6.89326196981400089e-12 0.615 --- 193,162,31,0.161 163,163,0,0.000 8.705 5.391 chr1 6181170 6181170 G A exonic CHD5 nonsynonymous SNV CHD5:NM_015557:exon33:c.C4907T:p.P1636L ID=COSM304287;OCCURENCE=1(large_intestine) 0.4 0.777172 N 0.72 T 0.0 B 0.762657 N 0.344869 NA -1.74 113 26 0.187 156 0 0.000 8.16482704474697146e-10 0.385 --- 121,96,24,0.200 133,133,0,0.000 8.357 6.212 chr1 6271945 6271945 C T exonic RNF207 synonymous SNV RNF207:NM_207396:exon13:c.C1128T:p.G376G Score=385;Name=lod=49 0.14 103 18 0.149 69 0 0.000 0.000205344636020265857 0.722 --- 106,91,15,0.142 62,62,0,0.000 2.936 5.064 chr1 7909736 7909736 A G exonic UTS2 synonymous SNV UTS2:NM_006786:exon3:c.T222C:p.S74S,UTS2:NM_021995:exon4:c.T267C:p.S89S 43 9 0.173 61 0 0.000 0.00061625491464445549 0.444 --- 42,35,7,0.167 49,48,0,0.000 2.442 7.376 chr1 8399689 8399689 C T exonic SLC45A1 synonymous SNV SLC45A1:NM_001080397:exon7:c.C1911T:p.Y637Y Score=385;Name=lod=49 121 27 0.182 135 0 0.000 7.66596518705209084e-09 0.407 --- 118,99,19,0.161 109,109,0,0.000 5.651 11.162 chr1 9009425 9009425 C A exonic CA6 synonymous SNV CA6:NM_001215:exon2:c.C183A:p.P61P,CA6:NM_001270500:exon2:c.C183A:p.P61P 77 12 0.135 83 0 0.000 0.000353615027140120208 0.500 --- 73,62,11,0.151 69,69,0,0.000 3.171 7.374 chr1 9323998 9323998 C A exonic H6PD synonymous SNV H6PD:NM_004285:exon5:c.C1446A:p.S482S Score=475;Name=lod=114 94 18 0.161 115 0 0.000 1.4163209153674523e-06 0.556 --- 99,84,15,0.152 98,97,1,0.010 3.503 15.256 chr1 9656996 9656996 G A exonic TMEM201 nonsynonymous SNV TMEM201:NM_001010866:exon3:c.G314A:p.R105H,TMEM201:NM_001130924:exon3:c.G314A:p.R105H 0.38 0.232793 N 0.83 T 0.703 P 0.978706 N 0.199647 N -0.113 191 59 0.236 259 0 0.000 1.16298551097848942e-20 0.644 --- 206,157,49,0.238 203,203,0,0.000 15.836 60 chr1 10363587 10363587 C T exonic KIF1B nonsynonymous SNV KIF1B:NM_183416:exon21:c.C2344T:p.R782W Score=619;Name=lod=437 0.01 0.91606 N 1.0 D 0.693416 NA 0.938873 NA 0.673078 NA 2.95 153 32 0.173 189 0 0.000 3.74727380476623221e-11 0.500 --- 157,128,29,0.185 155,155,0,0.000 9.043 15.955 chr1 10384047 10384047 C T exonic KIF1B nonsynonymous SNV KIF1B:NM_015074:exon23:c.C2326T:p.R776C Score=445;Name=lod=86 0 0.998979 C 1.0 D 0.997 D 1.0 D 0.990391 D 5.34 108 25 0.188 119 0 0.000 3.70942242110475087e-08 0.520 --- 103,83,20,0.194 93,93,0,0.000 5.967 10.856 chr1 10699885 10699885 C T exonic CASZ1 nonsynonymous SNV CASZ1:NM_001079843:exon21:c.G4394A:p.G1465D Score=853;Name=lod=3915 ID=COSM1199687;OCCURENCE=1(large_intestine) 0.22 0.997447 C 0.850976 NA 0.778 P 0.999876 U 0.005197 N 4.49 209 40 0.161 259 0 0.000 7.23690548430422151e-14 0.700 --- 207,172,35,0.169 220,220,0,0.000 11.708 14.23 chr1 11575545 11575545 G A exonic PTCHD2 nonsynonymous SNV PTCHD2:NM_020780:exon5:c.G1573A:p.V525M Score=371;Name=lod=43 0.000078 0 0.999676 C 0.902473 NA 0.732231 NA 1.0 D 0.988949 D 5.36 192 38 0.165 232 0 0.000 5.78959231941787253e-13 0.474 --- 191,156,35,0.183 195,195,0,0.000 11.447 15.955 chr1 11732055 11732055 C T exonic FBXO6 nonsynonymous SNV FBXO6:NM_018438:exon4:c.C484T:p.R162W Score=295;Name=lod=21 0 0.932241 N 0.99 D 1.0 D 1.0 D 0.978587 D 1.97 81 14 0.147 73 0 0.000 0.000309290033133890169 0.357 --- 76,65,11,0.145 58,58,0,0.000 2.617 11.221 chr1 11733798 11733798 A C exonic FBXO6 nonsynonymous SNV FBXO6:NM_018438:exon6:c.A772C:p.S258R 0.25 0.975903 C 0.49 T 0.0030 B 0.999376 N 0.445576 N 2.85 143 31 0.178 145 0 0.000 1.97921382979435124e-09 0.452 --- 140,112,27,0.194 115,115,0,0.000 7.564 60 chr1 11766626 11766626 G A exonic DRAXIN nonsynonymous SNV DRAXIN:NM_198545:exon2:c.G311A:p.G104D Score=409;Name=lod=61 0 0.980637 C 1.0 D 0.656 P 0.99747 N 0.302061 N 1.55 204 50 0.197 303 0 0.000 4.87585945305802835e-19 0.360 --- 226,182,44,0.195 266,266,0,0.000 15.952 10.512 chr1 11775240 11775240 C T exonic DRAXIN synonymous SNV DRAXIN:NM_198545:exon6:c.C912T:p.C304C Score=613;Name=lod=412 109 25 0.187 128 0 0.000 2.01333955831295333e-08 0.600 --- 109,91,18,0.165 106,106,0,0.000 5.439 60 chr1 11907482 11907482 A G exonic NPPA synonymous SNV NPPA:NM_006172:exon2:c.T138C:p.H46H 137 16 0.105 137 0 0.000 2.81468722308750559e-05 0.438 --- 145,130,15,0.103 123,121,0,0.000 4.080 10.926 chr1 12016981 12016981 C T exonic PLOD1 synonymous SNV PLOD1:NM_000302:exon7:c.C651T:p.V217V 38 11 0.224 46 0 0.000 0.000543990150962305392 0.636 --- 39,30,9,0.231 37,37,0,0.000 2.627 8.163 chr1 12433881 12433881 C T exonic VPS13D nonsynonymous SNV VPS13D:NM_018156:exon54:c.C10810T:p.P3604S,VPS13D:NM_015378:exon55:c.C10885T:p.P3629S Score=419;Name=lod=67 0.39 0.998881 C 0.94 T 0.755563 NA 1.0 D 1.0 D 5.25 101 26 0.205 152 0 0.000 2.76040152474067948e-10 0.538 --- 101,81,20,0.198 117,117,0,0.000 7.168 11.184 chr1 12677219 12677219 G A exonic DHRS3 synonymous SNV DHRS3:NM_004753:exon1:c.C135T:p.G45G Score=661;Name=lod=645 217 41 0.159 238 0 0.000 4.49603286650671927e-13 0.610 --- 218,180,38,0.174 192,192,0,0.000 11.042 8.015 chr1 12785422 12785422 T C exonic AADACL3 nonsynonymous SNV AADACL3:NM_001103169:exon3:c.T302C:p.L101P,AADACL3:NM_001103170:exon4:c.T512C:p.L171P 0 0.997035 C 0.98 D 0.561 P 0.62361 N 0.008728 N 4.89 195 42 0.177 225 0 0.000 1.04222060861603992e-13 0.571 --- 203,171,32,0.158 190,190,0,0.000 9.697 15.955 chr1 15767062 15767062 T C exonic CTRC nonsynonymous SNV CTRC:NM_007272:exon3:c.T206C:p.V69A Score=366;Name=lod=41 0 0.965567 C 1.0 D 0.999 D 0.999999 D 0.0 N 3.79 94 27 0.223 105 0 0.000 1.59171164224514364e-08 0.333 --- 99,78,21,0.212 93,93,0,0.000 6.451 15.256 chr1 15953202 15953202 A C exonic DDI2 nonsynonymous SNV DDI2:NM_032341:exon2:c.A177C:p.R59S Score=640;Name=lod=530 0.781239 N 0.4 T 0.048 B 1.0 U 0.42989 NA -0.398 122 19 0.135 137 0 0.000 2.05313160794333046e-06 0.526 --- 110,97,13,0.118 105,105,0,0.000 3.760 14.148 chr1 16352624 16352624 A G exonic CLCNKA nonsynonymous SNV CLCNKA:NM_001257139:exon4:c.A251G:p.K84R,CLCNKA:NM_001042704:exon5:c.A380G:p.K127R,CLCNKA:NM_004070:exon5:c.A380G:p.K127R Score=425;Name=lod=71 Score=0.908085;Name=chr1:16368767 0.17 0.902058 N 0.79 T 0.051 B 0.998191 N 0.956959 D 0.916 92 21 0.186 116 0 0.000 1.28213660296435575e-07 0.714 --- 93,75,18,0.194 92,92,0,0.000 5.513 3.704 chr1 16461006 16461006 G A exonic EPHA2 synonymous SNV EPHA2:NM_004431:exon8:c.C1639T:p.L547L 140 17 0.108 131 0 0.000 4.20855664553129823e-05 0.588 --- 130,115,15,0.115 110,109,0,0.000 4.111 7.875 chr1 17747241 17747241 A G exonic RCC2 synonymous SNV RCC2:NM_001136204:exon6:c.T828C:p.Y276Y,RCC2:NM_018715:exon7:c.T828C:p.Y276Y Score=692;Name=lod=867 71 9 0.112 76 0 0.000 0.00314074252346693381 0.444 --- 71,63,8,0.113 61,60,0,0.000 2.117 3.007 chr1 18809341 18809341 G A exonic KLHDC7A synonymous SNV KLHDC7A:NM_152375:exon1:c.G1866A:p.T622T Score=497;Name=lod=139 212 35 0.142 282 0 0.000 6.67273751848154644e-13 0.429 --- 220,186,33,0.151 237,237,0,0.000 11.099 11.997 chr1 19666061 19666061 T C exonic CAPZB nonsynonymous SNV CAPZB:NM_004930:exon9:c.A782G:p.D261G Score=636;Name=lod=513 0.1 0.998626 C 0.752947 NA 0.147 B 0.999976 D 0.549556 NA 5.71 65 11 0.145 79 0 0.000 0.000264943483210499856 0.455 --- 58,50,8,0.138 61,59,0,0.000 2.551 10.945 chr1 20445983 20445983 A G exonic PLA2G2D synonymous SNV PLA2G2D:NM_001271814:exon1:c.T9C:p.L3L,PLA2G2D:NM_012400:exon1:c.T9C:p.L3L 55 8 0.127 68 0 0.000 0.00223890630868563216 0.875 --- 54,44,9,0.170 55,55,0,0.000 2.946 4.33 chr1 21585278 21585278 G T exonic ECE1 nonsynonymous SNV ECE1:NM_001113347:exon4:c.C634A:p.L212M,ECE1:NM_001113349:exon5:c.C661A:p.L221M,ECE1:NM_001113348:exon6:c.C622A:p.L208M,ECE1:NM_001397:exon6:c.C670A:p.L224M Score=569;Name=lod=273 0.01 0.999286 C 0.99 D 0.07 B 1.0 D 0.999758 D 4.75 165 37 0.183 230 0 0.000 8.8604961168567363e-14 0.486 --- 161,132,29,0.180 184,184,0,0.000 10.239 60 chr1 21599326 21599326 T C exonic ECE1 nonsynonymous SNV ECE1:NM_001113347:exon2:c.A323G:p.D108G,ECE1:NM_001113349:exon3:c.A350G:p.D117G,ECE1:NM_001113348:exon4:c.A311G:p.D104G,ECE1:NM_001397:exon4:c.A359G:p.D120G Score=530;Name=lod=190 0.01 0.99818 C 0.98 D 0.032 B 1.0 D 0.999997 D 5.4 170 51 0.231 203 0 0.000 2.47209234946496265e-16 0.510 --- 174,135,39,0.224 163,163,0,0.000 12.182 60 chr1 21889644 21889644 C T exonic ALPL synonymous SNV ALPL:NM_001177520:exon3:c.C108T:p.T36T,ALPL:NM_001127501:exon4:c.C174T:p.T58T,ALPL:NM_000478:exon5:c.C339T:p.T113T 0.000077 166 43 0.206 233 0 0.000 8.16454317879082289e-16 0.581 --- 173,139,34,0.197 189,189,0,0.000 11.717 13.894 chr1 22028025 22028025 T C exonic USP48 nonsynonymous SNV USP48:NM_032236:exon22:c.A2693G:p.K898R Score=571;Name=lod=280 0.54 0.998581 C 0.42 T 0.0 B 1.0 D 0.275233 N 4.56 73 19 0.207 103 0 0.000 2.12461776533057267e-07 0.632 --- 69,54,15,0.217 77,77,0,0.000 5.272 14.135 chr1 22079027 22079027 C T exonic USP48 nonsynonymous SNV USP48:NM_001032730:exon5:c.G658A:p.V220I,USP48:NM_032236:exon5:c.G658A:p.V220I Score=667;Name=lod=685 0.06 0.983367 C 0.79 T 0.484 P 1.0 D 0.98138 D 4.42 93 16 0.147 115 0 0.000 5.37683072274663146e-06 0.562 --- 89,78,11,0.124 94,94,0,0.000 3.590 10.634 chr1 22079137 22079137 T C exonic USP48 nonsynonymous SNV USP48:NM_001032730:exon5:c.A548G:p.Q183R,USP48:NM_032236:exon5:c.A548G:p.Q183R Score=667;Name=lod=685 0.01 0.997887 C 0.93 T 0.998 D 1.0 D 0.998761 D 5.25 76 11 0.126 92 0 0.000 0.000253012940832088205 0.364 --- 75,65,9,0.122 76,76,0,0.000 2.875 6.044 chr1 22174499 22174499 G A exonic HSPG2 nonsynonymous SNV HSPG2:NM_005529:exon60:c.C7825T:p.R2609W Score=378;Name=lod=46 0.04 0.999269 C 0.96 D 0.838 P 0.976415 N 0.009676 N 4.73 138 35 0.202 186 1 0.005 3.06258974583457385e-11 0.371 1.000 148,117,31,0.209 146,145,1,0.007 8.525 60 chr1 22188591 22188591 G A exonic HSPG2 synonymous SNV HSPG2:NM_005529:exon38:c.C4758T:p.A1586A 0.000308 125 26 0.172 135 0 0.000 2.09779396873927642e-08 0.346 --- 120,99,21,0.175 119,119,0,0.000 6.437 9.685 chr1 22446594 22446594 G A exonic WNT4 synonymous SNV WNT4:NM_030761:exon5:c.C1005T:p.F335F Score=652;Name=lod=595 222 52 0.190 308 0 0.000 5.75013585958545737e-19 0.712 --- 235,187,48,0.204 257,257,0,0.000 16.615 9.969 chr1 23689197 23689197 C A exonic ZNF436 nonsynonymous SNV ZNF436:NM_030634:exon3:c.G678T:p.E226D,ZNF436:NM_001077195:exon4:c.G678T:p.E226D Score=355;Name=lod=37 0.15 0.980503 C 0.97 D 0.021 B 0.999677 D 0.180817 N 3.36 176 23 0.116 200 0 0.000 5.72448530620399895e-08 0.435 --- 178,157,21,0.118 181,181,0,0.000 6.672 11.352 chr1 23782622 23782622 G A exonic ASAP3 synonymous SNV ASAP3:NM_001143778:exon2:c.C195T:p.S65S,ASAP3:NM_017707:exon2:c.C195T:p.S65S Score=426;Name=lod=72 0.000077 103 26 0.202 150 0 0.000 4.33844945521778982e-10 0.269 --- 112,89,23,0.205 126,125,0,0.000 8.062 10.661 chr1 24465119 24465119 G A exonic IL22RA1 synonymous SNV IL22RA1:NM_021258:exon2:c.C129T:p.S43S 0.000077 rs143327213 133 34 0.204 131 2 0.015 1.17210181154863513e-07 0.471 0.500 139,111,28,0.201 108,107,1,0.009 6.332 13.913 chr1 25233776 25233776 C T exonic RUNX3 nonsynonymous SNV RUNX3:NM_004350:exon4:c.G677A:p.S226N,RUNX3:NM_001031680:exon5:c.G719A:p.S240N Score=449;Name=lod=89 0.73 0.971753 C 0.31 T 0.0060 B 0.961297 N 0.64566 D 3.15 104 27 0.206 143 0 0.000 4.68921963566277562e-10 0.444 --- 108,88,20,0.185 115,114,0,0.000 6.690 7.067 chr1 25783316 25783316 G A exonic TMEM57 nonsynonymous SNV TMEM57:NM_018202:exon5:c.G646A:p.E216K Score=458;Name=lod=97 0.23 0.999756 C 0.65 T 0.725 P 1.0 D 0.999848 D 5.57 110 20 0.154 143 0 0.000 1.57124453975448204e-07 0.350 --- 116,97,19,0.164 118,118,0,0.000 6.142 14.375 chr1 25944489 25944489 T G exonic MAN1C1 synonymous SNV MAN1C1:NM_020379:exon1:c.T201G:p.A67A 237 58 0.197 283 0 0.000 5.79218364163002901e-19 0.586 --- 258,206,52,0.202 237,237,0,0.000 15.725 10.897 chr1 26670787 26670787 C T exonic AIM1L nonsynonymous SNV AIM1L:NM_001039775:exon2:c.G2362A:p.A788T Score=440;Name=lod=82 230 29 0.112 268 0 0.000 4.86112510975544924e-10 0.517 --- 219,194,25,0.114 227,227,0,0.000 8.043 8.766 chr1 26881655 26881655 C T exonic RPS6KA1 nonsynonymous SNV RPS6KA1:NM_001006665:exon9:c.C797T:p.T266M,RPS6KA1:NM_002953:exon10:c.C770T:p.T257M Score=510;Name=lod=157 0 0.999119 C 1.0 D 0.95 D 1.0 D 0.999984 D 5.49 94 16 0.145 71 0 0.000 0.000266152063132454175 0.562 --- 91,80,11,0.121 61,61,0,0.000 2.490 6.853 chr1 27107125 27107125 G A exonic ARID1A nonsynonymous SNV ARID1A:NM_006015:exon20:c.G6736A:p.E2246K,ARID1A:NM_139135:exon20:c.G6085A:p.E2029K Score=628;Name=lod=476 0.07 0.999353 C 0.89 T 0.98 D 1.0 D 0.999663 D 4.33 229 65 0.221 271 0 0.000 9.70445311169519881e-21 0.431 --- 256,200,56,0.219 238,238,0,0.000 17.154 60 chr1 27268031 27268031 G A exonic NUDC synonymous SNV NUDC:NM_006600:exon3:c.G243A:p.R81R Score=466;Name=lod=104 132 28 0.175 196 0 0.000 4.54784245173942484e-11 0.464 --- 133,110,23,0.173 156,156,0,0.000 8.239 9.81 chr1 27332650 27332650 C T exonic FAM46B nonsynonymous SNV FAM46B:NM_052943:exon2:c.G1063A:p.V355M Score=556;Name=lod=242 0 0.98497 C 1.0 D 0.347 P 1.0 N 0.999995 D 3.89 246 69 0.219 338 0 0.000 1.87929654733725168e-24 0.493 --- 282,219,63,0.223 281,280,0,0.000 20.353 60 chr1 27685055 27685055 G A exonic MAP3K6 synonymous SNV MAP3K6:NM_004672:exon20:c.C2631T:p.A877A 173 34 0.164 212 0 0.000 8.69259904243158666e-12 0.529 --- 185,153,32,0.173 192,192,0,0.000 10.542 11.296 chr1 27697388 27697388 G A exonic FCN3 stopgain FCN3:NM_173452:exon5:c.C436T:p.Q146X,FCN3:NM_003665:exon6:c.C469T:p.Q157X Score=472;Name=lod=110 0.17 0.993905 C 0.903508 NA 0.73317 NA 0.992125 N 1.0 A 3.36 117 24 0.170 127 0 0.000 7.79894864489646674e-08 0.583 --- 127,104,22,0.175 114,114,0,0.000 6.534 10.734 chr1 28856450 28856450 G T exonic RCC1 nonsynonymous SNV RCC1:NM_001048194:exon2:c.G72T:p.K24N,RCC1:NM_001048195:exon2:c.G72T:p.K24N,RCC1:NM_001269:exon2:c.G72T:p.K24N,RCC1:NM_001048199:exon4:c.G72T:p.K24N Score=407;Name=lod=60 0.01 0.912508 N 0.97 D 0.88 D 1.0 D 0.01986 N 1.01 53 13 0.197 76 0 0.000 2.35007804820708587e-05 0.538 --- 48,38,10,0.208 59,59,0,0.000 3.730 5.519 chr1 29189449 29189449 G A exonic OPRD1 nonsynonymous SNV OPRD1:NM_000911:exon3:c.G773A:p.R258H Score=748;Name=lod=1458 0.998919 C 1.0 D 1.0 D 0.999986 D 0.99944 D 3.91 181 38 0.174 227 0 0.000 3.05813701186812417e-13 0.395 --- 186,151,34,0.184 195,194,0,0.000 11.332 6.704 chr1 29475280 29475280 C A exonic SRSF4 nonsynonymous SNV SRSF4:NM_005626:exon6:c.G1127T:p.R376M Score=336;Name=lod=31 0 0.998761 C 1.0 D 0.632063 NA 0.979336 N 0.326657 N 4.06 38 6 0.136 55 0 0.000 0.00629974805405705533 0.167 --- 43,35,8,0.186 48,48,0,0.000 2.768 5.551 chr1 29609441 29609441 G A exonic PTPRU nonsynonymous SNV PTPRU:NM_001195001:exon12:c.G2122A:p.A708T,PTPRU:NM_005704:exon12:c.G2122A:p.A708T,PTPRU:NM_133177:exon12:c.G2122A:p.A708T,PTPRU:NM_133178:exon12:c.G2122A:p.A708T Score=627;Name=lod=469 0 0.999514 C 0.99 D 0.98 D 1.0 D 0.992443 D 5.06 218 32 0.128 216 2 0.009 1.25188953824202278e-07 0.375 0.500 221,191,30,0.136 177,176,1,0.006 6.770 7.155 chr1 29618419 29618419 G A exonic PTPRU nonsynonymous SNV PTPRU:NM_001195001:exon15:c.G2357A:p.R786H,PTPRU:NM_133177:exon15:c.G2357A:p.R786H,PTPRU:NM_133178:exon15:c.G2357A:p.R786H,PTPRU:NM_005704:exon16:c.G2387A:p.R796H Score=486;Name=lod=126 0 0.999462 C 0.99 D 0.996 D 1.0 D 0.977696 D 4.64 159 25 0.136 173 1 0.006 4.40403424209088463e-07 0.680 1.000 160,138,22,0.138 151,150,1,0.007 5.477 9.858 chr1 31896628 31896628 C T exonic SERINC2 nonsynonymous SNV SERINC2:NM_001199037:exon2:c.C140T:p.T47M,SERINC2:NM_018565:exon2:c.C140T:p.T47M,SERINC2:NM_178865:exon2:c.C128T:p.T43M,SERINC2:NM_001199038:exon3:c.C155T:p.T52M Score=369;Name=lod=42 0 0.998676 C 1.0 D 0.899 D 1.0 D 0.687571 D 4.57 136 34 0.200 183 0 0.000 2.43333940968855452e-12 0.441 --- 135,111,23,0.172 145,145,0,0.000 7.791 14.676 chr1 32084989 32084989 C T exonic HCRTR1 synonymous SNV HCRTR1:NM_001525:exon3:c.C196T:p.L66L Score=391;Name=lod=52 154 27 0.149 164 0 0.000 1.06358750598930813e-08 0.407 --- 156,130,26,0.167 150,149,0,0.000 7.949 11.606 chr1 32279868 32279868 G A exonic SPOCD1 nonsynonymous SNV SPOCD1:NM_144569:exon2:c.C1067T:p.A356V 0.01 0.059837 N 1.0 D 0.149 B 0.579937 NA 1.81E-4 N -6.91 208 47 0.184 280 0 0.000 6.52255849310839535e-17 0.532 --- 220,176,44,0.200 236,236,0,0.000 15.001 60 chr1 32713275 32713275 C T exonic FAM167B nonsynonymous SNV FAM167B:NM_032648:exon1:c.C253T:p.R85W 0 0.982136 C 0.883163 NA 0.914 D 0.912932 U 0.003124 N 1.84 137 16 0.105 156 0 0.000 8.60067642321592443e-06 0.375 --- 141,125,16,0.113 130,130,0,0.000 4.630 5.569 chr1 33237851 33237851 C A exonic KIAA1522 nonsynonymous SNV KIAA1522:NM_001198972:exon6:c.C2894A:p.P965H,KIAA1522:NM_020888:exon6:c.C3071A:p.P1024H Score=485;Name=lod=125 0 0.985513 C 1.0 D 0.758124 NA 0.999998 D 0.871239 D 3.45 159 18 0.102 178 0 0.000 2.29777648618438086e-06 0.556 --- 149,132,17,0.114 150,150,0,0.000 5.353 7.949 chr1 33945280 33945280 C T exonic ZSCAN20 stopgain ZSCAN20:NM_145238:exon2:c.C391T:p.R131X Score=433;Name=lod=77 1 0.998636 C 0.904093 NA 0.731685 NA 0.979283 N 1.0 A 3.32 171 43 0.201 200 0 0.000 5.09487197988111333e-14 0.256 --- 184,143,41,0.223 173,173,0,0.000 12.836 15.477 chr1 34209013 34209013 C T exonic CSMD2 nonsynonymous SNV CSMD2:NM_052896:exon14:c.G1921A:p.E641K Score=371;Name=lod=43 0.03 0.998936 C 0.56 T 0.984 D 1.0 D 0.998979 D 5.3 125 22 0.150 205 0 0.000 1.69680533151901329e-09 0.591 --- 130,112,18,0.138 166,166,0,0.000 6.739 14.699 chr1 34643619 34643619 C T exonic C1orf94 nonsynonymous SNV C1orf94:NM_001134734:exon1:c.C229T:p.P77S Score=627;Name=lod=471 0 158 22 0.122 206 0 0.000 2.48300528645050992e-08 0.409 --- 152,133,19,0.125 171,171,0,0.000 6.495 12.595 chr1 35484998 35484998 G T exonic ZMYM6 synonymous SNV ZMYM6:NM_007167:exon4:c.C384A:p.A128A Score=504;Name=lod=149 170 32 0.158 197 0 0.000 1.31803409855011278e-10 0.531 --- 169,137,32,0.189 157,157,0,0.000 9.779 13.756 chr1 36558751 36558751 C T exonic ADPRHL2 nonsynonymous SNV ADPRHL2:NM_017825:exon6:c.C856T:p.R286C Score=584;Name=lod=314 0.15 0.999041 C 0.84 T 0.942 D 0.999999 D 0.997507 D 5.39 119 31 0.207 153 0 0.000 5.97051729324736434e-11 0.677 --- 127,101,26,0.205 128,128,0,0.000 8.492 10.102 chr1 36564749 36564749 T C exonic COL8A2 nonsynonymous SNV COL8A2:NM_005202:exon2:c.A533G:p.Q178R Score=313;Name=lod=25 0.11 0.953552 C 0.76 T 0.439961 NA 0.999999 D 0.077094 N 3.54 130 44 0.253 173 0 0.000 5.0332753852096851e-15 0.682 --- 170,131,39,0.229 169,167,0,0.000 12.488 13.078 chr1 36904426 36904426 G T exonic OSCP1 synonymous SNV OSCP1:NM_145047:exon2:c.C198A:p.A66A,OSCP1:NM_206837:exon2:c.C198A:p.A66A Score=642;Name=lod=540 118 28 0.192 164 0 0.000 1.53884700377360016e-10 0.393 --- 120,100,20,0.167 138,138,0,0.000 7.049 6.048 chr1 38005926 38005926 C T exonic SNIP1 nonsynonymous SNV SNIP1:NM_024700:exon3:c.G758A:p.R253H Score=644;Name=lod=552 0.000077 rs144503529 0.02 0.999069 C 0.95 T 0.852 D 1.0 D 0.999944 D 5.42 155 38 0.197 192 0 0.000 9.64112577922920438e-13 0.711 --- 177,138,38,0.216 169,169,0,0.000 11.991 60 chr1 38048405 38048405 A G exonic GNL2 nonsynonymous SNV GNL2:NM_013285:exon7:c.T769C:p.C257R Score=643;Name=lod=545 0 0.998911 C 1.0 D 0.999 D 1.0 D 0.999961 D 5.43 63 13 0.171 73 0 0.000 0.00014296657983671641 0.538 --- 62,51,11,0.177 60,59,0,0.000 3.210 9.459 chr1 38227169 38227169 C T exonic EPHA10 nonsynonymous SNV EPHA10:NM_001099439:exon3:c.G758A:p.R253H,EPHA10:NM_173641:exon3:c.G758A:p.R253H Score=499;Name=lod=142 0 0.998064 C 1.0 D 0.999 D 0.999639 D 0.605675 D 4.23 301 41 0.120 327 0 0.000 3.70072928656307071e-13 0.439 --- 293,254,39,0.133 264,264,0,0.000 11.221 5.281 chr1 38227291 38227291 G A exonic EPHA10 synonymous SNV EPHA10:NM_001099439:exon3:c.C636T:p.R212R,EPHA10:NM_173641:exon3:c.C636T:p.R212R Score=513;Name=lod=162 277 71 0.204 312 0 0.000 7.83531639829327194e-22 0.493 --- 294,234,60,0.204 253,253,0,0.000 17.466 60 chr1 40214638 40214638 G A exonic PPIE nonsynonymous SNV PPIE:NM_001195007:exon8:c.G572A:p.R191H,PPIE:NM_006112:exon8:c.G572A:p.R191H,PPIE:NM_203456:exon8:c.G572A:p.R191H Score=568;Name=lod=272 0 0.999252 C 1.0 D 1.0 D 1.0 D 0.999997 D 4.19 152 25 0.141 163 0 0.000 3.77758683388261587e-08 0.360 --- 139,117,22,0.158 130,130,0,0.000 6.607 7.604 chr1 40882703 40882703 G A exonic SMAP2 nonsynonymous SNV SMAP2:NM_001198978:exon9:c.G1009A:p.A337T,SMAP2:NM_001198979:exon9:c.G1084A:p.A362T,SMAP2:NM_001198980:exon9:c.G859A:p.A287T,SMAP2:NM_022733:exon9:c.G1099A:p.A367T Score=569;Name=lod=275 0.14 0.940984 N 0.83 T 0.588 P 0.982729 N 0.683019 D 2.26 122 24 0.164 154 0 0.000 1.0839268859390443e-08 0.333 --- 128,106,22,0.172 131,131,0,0.000 7.167 8.548 chr1 40961644 40961644 C T exonic ZFP69 synonymous SNV ZFP69:NM_198494:exon6:c.C1494T:p.N498N Score=611;Name=lod=407 115 23 0.167 153 0 0.000 1.23593899765115293e-08 0.478 --- 123,103,20,0.163 127,127,0,0.000 6.531 12.989 chr1 43783694 43783694 G A exonic TIE1 nonsynonymous SNV TIE1:NM_001253357:exon17:c.G2738A:p.R913H,TIE1:NM_005424:exon17:c.G2873A:p.R958H Score=581;Name=lod=306 0.22 0.995057 C 0.76 T 0.956 D 0.999356 N 0.458011 N 3.3 175 45 0.205 231 1 0.004 2.14708620069468265e-14 0.511 1.000 181,144,37,0.204 193,191,1,0.005 11.098 9.795 chr1 44044548 44044548 G A exonic PTPRF synonymous SNV PTPRF:NM_002840:exon7:c.G636A:p.S212S,PTPRF:NM_130440:exon7:c.G636A:p.S212S 0.000384 rs140062416 97 21 0.178 130 1 0.008 1.01796451255092848e-06 0.476 1.000 97,83,14,0.144 110,108,1,0.009 3.740 11.101 chr1 44072520 44072520 C T exonic PTPRF synonymous SNV PTPRF:NM_130440:exon20:c.C3711T:p.I1237I,PTPRF:NM_002840:exon21:c.C3738T:p.I1246I Score=596;Name=lod=353 0.000077 148 33 0.182 210 0 0.000 1.6391740968365232e-12 0.606 --- 150,123,27,0.180 165,165,0,0.000 9.284 12.588 chr1 44128760 44128760 T C splicing KDM4A NM_014663:exon5:c.623+2T>C Score=450;Name=lod=90 92 13 0.124 104 0 0.000 0.000164440130244189961 0.538 --- 85,73,12,0.141 85,85,0,0.000 3.492 6.124 chr1 44466459 44466459 C T exonic SLC6A9 nonsynonymous SNV SLC6A9:NM_001261380:exon11:c.G1528A:p.V510I,SLC6A9:NM_006934:exon11:c.G1573A:p.V525I,SLC6A9:NM_001024845:exon12:c.G1516A:p.V506I,SLC6A9:NM_201649:exon12:c.G1735A:p.V579I Score=547;Name=lod=223 0.64 0.921119 N 0.0 T 0.031 B 0.999545 N 0.408372 N 2.55 66 13 0.165 73 0 0.000 0.000159904700081605105 0.615 --- 67,57,10,0.149 62,62,0,0.000 2.840 7.315 chr1 45796880 45796880 C T exonic MUTYH nonsynonymous SNV MUTYH:NM_001048171:exon14:c.G1408A:p.A470T,MUTYH:NM_001048172:exon14:c.G1369A:p.A457T,MUTYH:NM_001048173:exon14:c.G1366A:p.A456T,MUTYH:NM_001048174:exon14:c.G1366A:p.A456T,MUTYH:NM_001128425:exon14:c.G1450A:p.A484T,MUTYH:NM_012222:exon14:c.G1441A:p.A481T Score=412;Name=lod=63 0.02 0.99862 C 0.91 T 0.179 P 0.999994 D 0.9923 D 5.05 148 41 0.217 212 0 0.000 3.09164988287675599e-15 0.634 --- 158,125,33,0.209 174,174,0,0.000 11.490 60 chr1 45810895 45810895 C T exonic TESK2 nonsynonymous SNV TESK2:NM_007170:exon11:c.G1333A:p.E445K Score=393;Name=lod=53 0.01 0.999096 C 1.0 D 0.486 P 0.999967 D 0.885077 D 5.45 187 45 0.194 227 0 0.000 5.96157525904524663e-15 0.622 --- 201,161,40,0.199 195,194,0,0.000 12.575 60 chr1 46747005 46747005 G A exonic LRRC41 synonymous SNV LRRC41:NM_006369:exon5:c.C1548T:p.G516G Score=656;Name=lod=620 92 19 0.171 148 0 0.000 3.91378248170249275e-08 0.421 --- 93,76,16,0.174 114,114,0,0.000 5.943 9.989 chr1 47048932 47048932 C T exonic MKNK1 nonsynonymous SNV MKNK1:NM_001135553:exon3:c.G104A:p.R35Q,MKNK1:NM_003684:exon3:c.G104A:p.R35Q,MKNK1:NM_198973:exon3:c.G104A:p.R35Q Score=528;Name=lod=187 0.0005 rs201215203 0.01 0.986133 C 0.99 D 0.999 D 1.0 D 0.999979 D 4.46 67 16 0.193 130 0 0.000 1.0737805597538812e-07 0.562 --- 69,56,13,0.188 100,100,0,0.000 5.376 13.025 chr1 51756251 51756251 G T exonic TTC39A nonsynonymous SNV TTC39A:NM_001080494:exon15:c.C1316A:p.P439Q,TTC39A:NM_001144832:exon15:c.C1325A:p.P442Q 0.25 119 25 0.174 151 0 0.000 5.09294826540734844e-09 0.320 --- 119,99,20,0.168 122,122,0,0.000 6.512 9.859 chr1 52824748 52824748 C T exonic CC2D1B nonsynonymous SNV CC2D1B:NM_032449:exon11:c.G1208A:p.R403Q Score=561;Name=lod=255 0.01 0.99831 C 0.97 D 0.963 D 0.999923 D 0.411753 N 3.32 148 38 0.204 191 0 0.000 2.59536234858632882e-13 0.500 --- 163,127,36,0.221 155,155,0,0.000 11.317 15.0 chr1 52826802 52826802 C T exonic CC2D1B synonymous SNV CC2D1B:NM_032449:exon5:c.G321A:p.T107T Score=441;Name=lod=83 112 20 0.152 110 0 0.000 4.19003342743459447e-06 0.300 --- 112,95,17,0.152 99,98,0,0.000 4.872 12.748 chr1 53559144 53559144 C T exonic SLC1A7 synonymous SNV SLC1A7:NM_006671:exon6:c.G786A:p.A262A 81 11 0.120 118 0 0.000 7.99518095785661356e-05 0.636 --- 81,70,10,0.125 84,84,0,0.000 3.251 6.039 chr1 53728179 53728179 G A exonic LRP8 synonymous SNV LRP8:NM_033300:exon9:c.C1203T:p.N401N,LRP8:NM_017522:exon10:c.C1326T:p.N442N,LRP8:NM_001018054:exon11:c.C1713T:p.N571N,LRP8:NM_004631:exon11:c.C1713T:p.N571N Score=525;Name=lod=182 94 19 0.168 119 0 0.000 4.97575738593093892e-07 0.421 --- 90,77,12,0.135 93,93,0,0.000 3.904 8.211 chr1 54610234 54610234 G A exonic CDCP2 nonsynonymous SNV CDCP2:NM_201546:exon2:c.C332T:p.P111L Score=352;Name=lod=36 0.01 rs183163862 0 0.999491 C 0.99 D 1.0 D 1.0 D 0.984744 D 5.01 165 38 0.187 219 0 0.000 1.15521711363519767e-13 0.632 --- 171,140,31,0.181 184,184,0,0.000 10.507 60 chr1 55075581 55075581 A C exonic FAM151A nonsynonymous SNV FAM151A:NM_176782:exon8:c.T1118G:p.L373R Score=278;Name=lod=18 0 0.998648 C 0.925386 NA 0.967 D 0.998494 N 0.566775 D 4.12 544 61 0.101 681 0 0.000 1.95678798840962084e-21 0.361 --- 524,473,51,0.097 566,564,0,0.000 16.758 7.372 chr1 55517957 55517957 G A exonic PCSK9 nonsynonymous SNV PCSK9:NM_174936:exon4:c.G530A:p.G177D 0.000077 0.900695 N 0.98 D 0.903 D 0.996436 N 0.333859 N 1.21 110 18 0.141 183 0 0.000 5.41172430810921013e-08 0.667 --- 107,91,16,0.150 153,153,0,0.000 6.477 10.642 chr1 55590996 55590996 T C exonic USP24 nonsynonymous SNV USP24:NM_015306:exon34:c.A3957G:p.I1319M Score=539;Name=lod=207 0.24 114 13 0.102 126 0 0.000 0.000176729492819602893 0.769 --- 115,104,11,0.096 111,111,0,0.000 3.113 9.218 chr1 57409417 57409417 G C exonic C8B nonsynonymous SNV C8B:NM_000066:exon8:c.C1186G:p.L396V 0.34 0.207 N 0.24 T 0.0010 B 0.398646 N 0.120186 N -1.13 91 15 0.142 121 0 0.000 6.21198203850294489e-06 0.533 --- 79,67,12,0.152 94,94,0,0.000 4.297 12.148 chr1 59042426 59042426 G A exonic TACSTD2 nonsynonymous SNV TACSTD2:NM_002353:exon1:c.C403T:p.R135C Score=596;Name=lod=354 0 0.999147 C 1.0 D 1.0 D 1.0 D 0.996824 D 4.1 341 77 0.184 390 0 0.000 2.79926881720936293e-24 0.571 --- 373,296,77,0.206 322,322,0,0.000 22.343 60 chr1 59142695 59142695 G T exonic MYSM1 synonymous SNV MYSM1:NM_001085487:exon9:c.C1293A:p.T431T Score=701;Name=lod=940 70 9 0.114 100 0 0.000 0.000485641481123940449 0.000 --- 65,56,9,0.138 85,85,0,0.000 3.414 6.244 chr1 63788763 63788763 A G exonic FOXD3 nonsynonymous SNV FOXD3:NM_012183:exon1:c.A34G:p.M12V Score=694;Name=lod=883 0 0.808146 N 1.0 D 0.534872 NA 0.781493 U 0.160914 N 1.49 183 24 0.116 215 0 0.000 1.83209356371766291e-08 0.375 --- 193,171,22,0.114 195,192,0,0.000 6.597 7.11 chr1 67559025 67559025 C T exonic C1orf141 nonsynonymous SNV C1orf141:NM_001276351:exon8:c.G866A:p.G289D 0.2 0.015594 N 0.8 T 0.0 B 0.043563 N 0.022621 N -4.02 66 16 0.195 119 0 0.000 2.27106589557243131e-07 0.500 --- 76,62,14,0.184 103,103,0,0.000 5.536 8.595 chr1 67845758 67845758 G T exonic IL12RB2 nonsynonymous SNV IL12RB2:NM_001258215:exon11:c.G1549T:p.A517S,IL12RB2:NM_001258216:exon13:c.G1807T:p.A603S,IL12RB2:NM_001559:exon13:c.G1807T:p.A603S,IL12RB2:NM_001258214:exon14:c.G1807T:p.A603S Score=448;Name=lod=88 0.57 0.999679 C 0.43 T 0.366 P 0.989067 N 0.026587 N 5.04 83 11 0.117 101 0 0.000 0.000236942707032829265 0.545 --- 68,60,8,0.118 78,77,1,0.013 1.903 5.248 chr1 67891876 67891876 G A exonic SERBP1 stopgain SERBP1:NM_001018067:exon2:c.C406T:p.R136X,SERBP1:NM_001018068:exon2:c.C406T:p.R136X,SERBP1:NM_001018069:exon2:c.C406T:p.R136X,SERBP1:NM_015640:exon2:c.C406T:p.R136X Score=620;Name=lod=442 1 0.045601 N 0.827629 NA 0.578594 NA 1.0 D 1.0 A -3.57 97 27 0.218 168 0 0.000 1.47225345246003292e-11 0.556 --- 106,83,23,0.217 134,134,0,0.000 8.809 5.719 chr1 68512674 68512674 G A exonic DIRAS3 nonsynonymous SNV DIRAS3:NM_004675:exon2:c.C307T:p.R103C Score=405;Name=lod=59 0 0.823001 N 0.99 D 1.0 D 0.856756 NA 0.167558 N -2.07 195 35 0.152 248 0 0.000 1.77943230518911483e-12 0.743 --- 205,173,32,0.156 221,220,0,0.000 10.722 60 chr1 68912399 68912399 T C exonic RPE65 nonsynonymous SNV RPE65:NM_000329:exon3:c.A239G:p.H80R Score=432;Name=lod=76 1 0.998274 C 0.0 T 0.41 P 0.999937 D 0.954767 D 5.46 99 27 0.214 187 0 0.000 3.36374717534245186e-12 0.519 --- 112,90,21,0.189 166,165,0,0.000 8.846 8.582 chr1 75037598 75037598 C T exonic C1orf173 nonsynonymous SNV C1orf173:NM_001002912:exon14:c.G3796A:p.V1266I 0 0.203222 N 1.0 D 0.242 P 0.623921 NA 6.3E-5 N 0.643 267 32 0.107 346 0 0.000 8.09006908853693885e-12 0.531 --- 262,233,29,0.111 294,294,0,0.000 9.853 10.738 chr1 77510040 77510040 G A exonic ST6GALNAC5 nonsynonymous SNV ST6GALNAC5:NM_030965:exon3:c.G413A:p.R138H Score=540;Name=lod=209 0.999643 C 0.82 T 0.079 B 0.999989 D 0.545223 NA 4.15 253 52 0.170 328 0 0.000 2.76503237028651328e-18 0.481 --- 270,224,46,0.170 271,271,0,0.000 14.796 60 chr1 79358852 79358852 A T exonic ELTD1 nonsynonymous SNV ELTD1:NM_022159:exon13:c.T1772A:p.V591D Score=583;Name=lod=313 0 0.998218 C 1.0 D 0.888 D 0.995274 N 0.998888 D 4.93 46 16 0.258 90 0 0.000 1.59580651634231308e-07 0.438 --- 55,42,13,0.236 71,71,0,0.000 5.071 9.381 chr1 79403643 79403643 T C exonic ELTD1 synonymous SNV ELTD1:NM_022159:exon6:c.A609G:p.Q203Q Score=433;Name=lod=77 84 12 0.125 128 0 0.000 2.53057921992940426e-05 0.500 --- 87,76,10,0.116 110,110,0,0.000 3.712 8.17 chr1 90399639 90399639 G A exonic LRRC8D nonsynonymous SNV LRRC8D:NM_001134479:exon3:c.G1012A:p.V338I,LRRC8D:NM_018103:exon3:c.G1012A:p.V338I Score=425;Name=lod=71 0.45 0.99965 C 0.5 T 0.0 B 0.999791 D 0.005484 N 4.19 125 33 0.209 169 0 0.000 5.48016218623941813e-12 0.545 --- 137,109,27,0.199 151,150,0,0.000 9.368 60 chr1 94640184 94640184 A G exonic ARHGAP29 synonymous SNV ARHGAP29:NM_004815:exon23:c.T3027C:p.H1009H 130 34 0.207 207 0 0.000 1.05886788424465173e-13 0.382 --- 135,108,27,0.200 166,166,0,0.000 10.092 60 chr1 94953479 94953479 G A exonic ABCD3 nonsynonymous SNV ABCD3:NM_002858:exon13:c.G1097A:p.R366Q Score=668;Name=lod=693 0.0005 rs200504644 0.03 0.999635 C 0.92 T 0.323 P 1.0 D 0.989859 D 5.27 98 14 0.125 138 0 0.000 8.14588079950737668e-06 0.500 --- 88,76,12,0.136 109,109,0,0.000 4.392 9.679 chr1 100361909 100361909 T C exonic AGL synonymous SNV AGL:NM_000645:exon23:c.T3276C:p.G1092G,AGL:NM_000028:exon25:c.T3327C:p.G1109G,AGL:NM_000642:exon25:c.T3327C:p.G1109G,AGL:NM_000643:exon25:c.T3327C:p.G1109G,AGL:NM_000644:exon25:c.T3327C:p.G1109G,AGL:NM_000646:exon25:c.T3279C:p.G1093G 94 19 0.168 127 0 0.000 2.54597648510721027e-07 0.579 --- 78,66,12,0.154 93,93,0,0.000 4.306 10.692 chr1 100480859 100480859 T G exonic SLC35A3 synonymous SNV SLC35A3:NM_001271685:exon6:c.T762G:p.G254G,SLC35A3:NM_012243:exon6:c.T636G:p.G212G Score=564;Name=lod=262 19 4 0.174 33 0 0.000 0.0241090146750524109 0.750 --- 22,19,3,0.136 27,27,0,0.000 1.078 4.293 chr1 100701062 100701062 G A exonic DBT nonsynonymous SNV DBT:NM_001918:exon3:c.C181T:p.R61C 0.1 0.993662 C 0.85 T 0.0 B 0.107574 N 0.002698 N 2.19 31 7 0.184 31 0 0.000 0.0141346463050761253 0.429 --- 32,27,5,0.156 26,26,0,0.000 1.234 4.155 chr1 101704934 101704934 G A exonic S1PR1 nonsynonymous SNV S1PR1:NM_001400:exon2:c.G394A:p.V132M Score=455;Name=lod=94 0.06 0.992789 C 1.0 D 0.852 D 1.0 D 0.998957 D 4.19 185 24 0.115 247 0 0.000 3.46372247392643344e-09 0.583 --- 193,170,23,0.119 215,214,0,0.000 7.771 10.344 chr1 103385901 103385901 C T exonic COL11A1 nonsynonymous SNV COL11A1:NM_080630:exon47:c.G3380A:p.G1127E,COL11A1:NM_001190709:exon48:c.G3611A:p.G1204E,COL11A1:NM_001854:exon49:c.G3728A:p.G1243E,COL11A1:NM_080629:exon49:c.G3764A:p.G1255E Score=352;Name=lod=36 0 0.999318 C 1.0 D 0.789025 NA 1.0 D 0.999862 D 5.39 56 9 0.138 86 0 0.000 0.000362417035304171232 0.333 --- 56,49,7,0.125 73,73,0,0.000 2.634 9.863 chr1 109171020 109171020 A G exonic FAM102B nonsynonymous SNV FAM102B:NM_001010883:exon8:c.A656G:p.Y219C Score=407;Name=lod=60 0.03 0.998507 C 0.85 T 0.999 D 1.0 D 0.999991 D 5.11 139 21 0.131 161 0 0.000 2.20920198555104793e-07 0.524 --- 138,119,19,0.138 140,140,0,0.000 6.070 11.8 chr1 109339302 109339302 A G exonic STXBP3 nonsynonymous SNV STXBP3:NM_007269:exon15:c.A1310G:p.D437G Score=615;Name=lod=420 0.16 0.998448 C 0.81 T 0.013 B 0.999928 D 0.995442 D 5.09 84 28 0.250 140 0 0.000 1.63072860020311674e-11 0.536 --- 88,66,22,0.250 108,108,0,0.000 8.366 60 chr1 109607242 109607242 T C exonic TAF13 nonsynonymous SNV TAF13:NM_005645:exon4:c.A278G:p.D93G Score=701;Name=lod=943 0.01 0.996259 C 0.99 D 0.973 D 1.0 D 0.999678 D 4.64 123 35 0.222 140 0 0.000 4.41665168186126415e-11 0.457 --- 118,93,25,0.212 105,105,0,0.000 7.477 9.61 chr1 110033814 110033814 G A exonic ATXN7L2 synonymous SNV ATXN7L2:NM_153340:exon10:c.G1629A:p.P543P Score=446;Name=lod=87 236 46 0.163 317 2 0.006 4.56651897874680714e-14 0.630 0.500 255,211,44,0.173 275,274,1,0.004 13.254 11.071 chr1 110580520 110580520 C T exonic STRIP1 nonsynonymous SNV STRIP1:NM_033088:exon2:c.C188T:p.S63L Score=415;Name=lod=65 0.17 0.998789 C 0.49 T 0.0070 B 1.0 D 0.989732 D 5.17 35 15 0.300 41 0 0.000 7.43379589962560746e-05 0.533 --- 35,24,11,0.314 31,31,0,0.000 3.330 12.885 chr1 110768679 110768679 G A exonic KCNC4 synonymous SNV KCNC4:NM_001039574:exon3:c.G1698A:p.P566P,KCNC4:NM_004978:exon3:c.G1698A:p.P566P 0.000077 139 36 0.206 192 0 0.000 3.24168937136096523e-13 0.417 --- 145,111,33,0.229 152,151,0,0.000 11.199 11.571 chr1 110888163 110888163 T C exonic RBM15 nonsynonymous SNV RBM15:NM_022768:exon2:c.T2866C:p.F956L 1 0.89036 N 1.0 D 0.394624 NA 0.168156 N 3.22E-4 N -0.826 28 9 0.243 53 0 0.000 0.000176146087917476402 0.778 --- 31,24,7,0.226 46,46,0,0.000 2.961 10.572 chr1 111494469 111494469 C T exonic LRIF1 nonsynonymous SNV LRIF1:NM_018372:exon2:c.G1037A:p.R346Q Score=553;Name=lod=235 ID=COSM259758;OCCURENCE=1(large_intestine) 1 0.968525 C 0.74 T 0.0 B 0.999027 N 1.8E-5 N 4.07 121 29 0.193 163 0 0.000 1.14599810135409299e-10 0.448 --- 136,109,26,0.193 142,141,0,0.000 8.665 60 chr1 111854340 111854340 G A exonic CHIA nonsynonymous SNV CHIA:NM_201653:exon3:c.G55A:p.G19S Score=422;Name=lod=69 0.04 0.98817 C 0.96 D 0.993 D 0.99152 N 0.776836 NA 3.11 78 16 0.170 104 0 0.000 3.20686728580684102e-06 0.438 --- 75,62,13,0.173 87,87,0,0.000 4.612 8.336 chr1 111996883 111996883 C A exonic ATP5F1 nonsynonymous SNV ATP5F1:NM_001688:exon3:c.C128A:p.P43H Score=560;Name=lod=251 0 0.997777 C 0.99 D 0.999 D 1.0 D 0.999941 D 4.62 171 38 0.182 198 0 0.000 1.82423081408497672e-12 0.632 --- 171,138,33,0.193 152,152,0,0.000 9.603 11.16 chr1 112524722 112524722 C T exonic KCND3 synonymous SNV KCND3:NM_004980:exon2:c.G627A:p.T209T,KCND3:NM_172198:exon2:c.G627A:p.T209T Score=387;Name=lod=50 255 52 0.169 260 0 0.000 1.92988471363819381e-15 0.442 --- 263,217,46,0.175 227,226,0,0.000 12.958 60 chr1 112525240 112525240 G A exonic KCND3 nonsynonymous SNV KCND3:NM_004980:exon2:c.C109T:p.R37W,KCND3:NM_172198:exon2:c.C109T:p.R37W Score=510;Name=lod=158 ID=COSM1320133;OCCURENCE=1(ovary) 0 0.999518 C 1.0 D 0.299 P 1.0 D 0.999998 D 3.67 212 43 0.169 294 2 0.007 3.12366529153256441e-13 0.488 0.500 210,170,39,0.187 237,235,2,0.008 11.209 9.121 chr1 113093245 113093245 C T exonic ST7L synonymous SNV ST7L:NM_017744:exon13:c.G1467A:p.T489T,ST7L:NM_138727:exon13:c.G1416A:p.T472T,ST7L:NM_138729:exon13:c.G1467A:p.T489T Score=651;Name=lod=587 82 11 0.118 98 0 0.000 0.000264404954042839392 0.818 --- 77,67,10,0.130 77,77,0,0.000 2.845 7.38 chr1 113254606 113254606 C T exonic PPM1J nonsynonymous SNV PPM1J:NM_005167:exon5:c.G914A:p.R305H Score=641;Name=lod=539 0.000077 0 0.986511 C 1.0 D 1.0 D 1.0 N 0.999983 D 4.44 67 15 0.183 98 0 0.000 3.51899544488314243e-06 0.533 --- 68,55,13,0.191 73,73,0,0.000 4.401 5.153 chr1 114310957 114310957 G A exonic RSBN1 synonymous SNV RSBN1:NM_018364:exon5:c.C1713T:p.R571R 0.002307 0.0009 rs36052758 72 19 0.209 133 0 0.000 1.07233322708881108e-08 0.421 --- 78,59,18,0.234 109,109,0,0.000 7.462 12.226 chr1 114506106 114506106 G A exonic HIPK1 nonsynonymous SNV HIPK1:NM_181358:exon8:c.G1019A:p.G340D,HIPK1:NM_198269:exon9:c.G1079A:p.G360D,HIPK1:NM_152696:exon10:c.G2201A:p.G734D,HIPK1:NM_198268:exon10:c.G2201A:p.G734D Score=757;Name=lod=1584 0.05 0.999719 C 0.99 D 0.266 P 0.999993 D 0.993627 D 5.46 157 20 0.113 202 0 0.000 1.33018754963573688e-07 0.450 --- 149,132,16,0.108 162,162,0,0.000 5.332 9.123 chr1 115006999 115006999 G A exonic TRIM33 nonsynonymous SNV TRIM33:NM_015906:exon2:c.C538T:p.R180W,TRIM33:NM_033020:exon2:c.C538T:p.R180W Score=684;Name=lod=806 0 0.993905 C 1.0 D 1.0 D 1.0 D 0.999394 D 4.58 43 11 0.204 68 0 0.000 6.82139072281538917e-05 0.364 --- 46,35,11,0.239 54,54,0,0.000 4.026 10.807 chr1 115829101 115829101 C T exonic NGF nonsynonymous SNV NGF:NM_002506:exon3:c.G316A:p.E106K 0.14 0.918347 N 0.87 T 0.015 B 0.775673 N 0.055215 N 0.403 209 46 0.180 274 1 0.004 1.16095464730062017e-14 0.457 0.000 228,186,42,0.184 232,231,1,0.004 12.310 60 chr1 118039506 118039506 C T exonic MAN1A2 nonsynonymous SNV MAN1A2:NM_006699:exon10:c.C1406T:p.A469V Score=681;Name=lod=782 0.01 0.983858 C 0.92 T 0.253 P 1.0 N 0.999879 D 4.5 106 23 0.178 150 0 0.000 6.2146961634270508e-09 0.565 --- 103,85,18,0.175 113,113,0,0.000 6.158 9.134 chr1 119575701 119575701 C T exonic WARS2 nonsynonymous SNV WARS2:NM_015836:exon6:c.G916A:p.V306M Score=361;Name=lod=39 ID=COSM1270336;OCCURENCE=1(oesophagus) 0 0.999157 C 0.99 D 0.971 D 1.0 D 0.984527 D 5.52 258 57 0.181 314 1 0.003 2.76330767965970166e-17 0.614 1.000 278,226,50,0.181 266,265,1,0.004 14.193 60 chr1 120165406 120165406 C T exonic ZNF697 synonymous SNV ZNF697:NM_001080470:exon3:c.G1560A:p.P520P Score=667;Name=lod=684 309 88 0.222 369 0 0.000 4.36642389129288512e-28 0.500 --- 338,263,75,0.222 320,319,0,0.000 23.355 60 chr1 120466300 120466300 G A exonic NOTCH2 nonsynonymous SNV NOTCH2:NM_024408:exon26:c.C4819T:p.R1607C Score=374;Name=lod=44 0.01 0.9998 C 0.99 D 0.472 P 0.999075 U 0.998012 D 5.73 132 27 0.170 145 0 0.000 8.4590130330699367e-09 0.667 --- 141,116,24,0.171 124,124,0,0.000 7.035 10.751 chr1 144828605 144828605 T C exonic NBPF8,NBPF9 unknown UNKNOWN Score=0.984347;Name=chr1:148010934 0 42 28 0.400 70 0 0.000 2.50095267474171212e-10 0.464 --- 62,38,24,0.387 58,58,0,0.000 7.996 3.654 chr1 145538270 145538270 G A exonic ITGA10 nonsynonymous SNV ITGA10:NM_003637:exon23:c.G2797A:p.A933T Score=440;Name=lod=82 0.36 0.999679 C 0.62 T 0.191 P 0.999765 D 0.55848 D 5.37 71 11 0.134 68 0 0.000 0.00104369316428644659 0.364 --- 64,54,8,0.129 54,54,0,0.000 2.157 6.502 chr1 146727553 146727553 C T exonic CHD1L nonsynonymous SNV CHD1L:NM_001256336:exon3:c.C133T:p.R45C,CHD1L:NM_004284:exon4:c.C433T:p.R145C,CHD1L:NM_024568:exon4:c.C94T:p.R32C 0.000154 rs201680696 0 0.070302 N 0.95 T 0.0 B 0.3009 N 0.040302 N -2.05 81 19 0.190 109 0 0.000 3.0925549638727001e-07 0.368 --- 84,68,16,0.190 84,84,0,0.000 4.858 10.208 chr1 149905748 149905748 C T exonic MTMR11 synonymous SNV MTMR11:NM_181873:exon7:c.G555A:p.P185P,MTMR11:NM_001145862:exon8:c.G771A:p.P257P Score=573;Name=lod=283 88 27 0.235 115 0 0.000 1.32125292248411005e-09 0.481 --- 94,72,22,0.234 90,90,0,0.000 6.883 5.181 chr1 150300837 150300837 G A exonic PRPF3 nonsynonymous SNV PRPF3:NM_004698:exon4:c.G335A:p.R112Q Score=559;Name=lod=250 0.02 0.999708 C 0.98 D 0.754 P 1.0 D 0.990832 D 4.92 125 28 0.183 124 0 0.000 1.89925171824982721e-08 0.607 --- 122,99,23,0.189 97,97,0,0.000 6.242 9.642 chr1 150469375 150469375 G A exonic TARS2 synonymous SNV TARS2:NM_025150:exon9:c.G1011A:p.A337A Score=655;Name=lod=615 52 22 0.297 95 0 0.000 1.65929331344709647e-09 0.455 --- 61,44,17,0.279 75,75,0,0.000 6.536 12.49 chr1 150680823 150680823 G A exonic HORMAD1 synonymous SNV HORMAD1:NM_001199829:exon8:c.C435T:p.L145L,HORMAD1:NM_032132:exon9:c.C456T:p.L152L Score=646;Name=lod=564 67 13 0.162 79 0 0.000 0.000143782706171644086 0.538 --- 65,54,11,0.169 60,60,0,0.000 3.176 6.385 chr1 151018640 151018640 C A exonic BNIPL nonsynonymous SNV BNIPL:NM_001159642:exon9:c.C790A:p.Q264K,BNIPL:NM_138278:exon9:c.C1036A:p.Q346K Score=472;Name=lod=111 0.3 0.999047 C 0.77 T 0.615 P 0.997036 N 0.987234 D 5.4 77 12 0.135 103 0 0.000 6.4346396975412502e-05 0.500 --- 68,58,10,0.147 75,75,0,0.000 3.390 9.304 chr1 151115090 151115090 C T exonic SEMA6C nonsynonymous SNV SEMA6C:NM_001178061:exon3:c.G8A:p.R3H,SEMA6C:NM_001178062:exon3:c.G8A:p.R3H,SEMA6C:NM_030913:exon3:c.G8A:p.R3H Score=545;Name=lod=218 0.000077 rs150705082 0 0.997887 C 1.0 D 0.892 D 0.490237 N 0.01674 N 4.14 102 24 0.190 128 0 0.000 1.45676318864817907e-08 0.292 --- 112,87,23,0.209 115,115,0,0.000 7.718 9.313 chr1 151171493 151171493 G A exonic PIP5K1A synonymous SNV PIP5K1A:NM_001135636:exon1:c.G21A:p.G7G,PIP5K1A:NM_001135637:exon1:c.G21A:p.G7G,PIP5K1A:NM_001135638:exon1:c.G21A:p.G7G,PIP5K1A:NM_003557:exon1:c.G21A:p.G7G Score=515;Name=lod=165 84 14 0.143 106 0 0.000 2.07640492165847775e-05 0.643 --- 84,72,12,0.143 88,88,0,0.000 3.922 8.71 chr1 151339353 151339353 G A exonic SELENBP1 nonsynonymous SNV SELENBP1:NM_001258288:exon5:c.C323T:p.T108M,SELENBP1:NM_001258289:exon6:c.C635T:p.T212M,SELENBP1:NM_003944:exon6:c.C509T:p.T170M Score=499;Name=lod=142 0 0.999598 C 0.99 D 0.998 D 1.0 D 0.999939 D 5.19 123 26 0.174 163 0 0.000 1.2989215665089286e-09 0.385 --- 129,106,23,0.178 142,142,0,0.000 7.904 15.0 chr1 151397481 151397481 G A exonic POGZ stopgain POGZ:NM_145796:exon6:c.C850T:p.R284X,POGZ:NM_207171:exon6:c.C976T:p.R326X,POGZ:NM_001194938:exon7:c.C949T:p.R317X,POGZ:NM_001194937:exon8:c.C1108T:p.R370X,POGZ:NM_015100:exon8:c.C1135T:p.R379X Score=622;Name=lod=449 1 0.990881 C 0.903142 NA 0.734038 NA 0.999874 D 1.0 A 4.02 43 5 0.104 53 0 0.000 0.0216176130552251522 0.200 --- 39,34,5,0.128 39,39,0,0.000 1.263 5.65 chr1 151811424 151811424 C T exonic C2CD4D synonymous SNV C2CD4D:NM_001136003:exon2:c.G42A:p.A14A 140 22 0.136 149 0 0.000 3.21023841346633601e-07 0.500 --- 137,115,22,0.161 120,120,0,0.000 6.365 12.532 chr1 152128690 152128690 G A exonic RPTN synonymous SNV RPTN:NM_001122965:exon3:c.C885T:p.Y295Y 0.0005 rs200576288 158 39 0.198 194 0 0.000 4.6676403918484712e-13 0.385 --- 169,137,31,0.185 169,167,0,0.000 9.693 60 chr1 152187901 152187901 G A exonic HRNR synonymous SNV HRNR:NM_001009931:exon3:c.C6204T:p.H2068H Score=0.979773;Name=chr1:152188549 0.005204 0.0082 rs150413868 72 21 0.226 119 0 0.000 7.37860645446452188e-09 0.810 --- 85,66,19,0.224 100,100,0,0.000 6.947 13.917 chr1 152192587 152192587 T C exonic HRNR synonymous SNV HRNR:NM_001009931:exon3:c.A1518G:p.R506R Score=0.919886;Name=chr1:152190651 243 42 0.147 315 0 0.000 4.76910357303909646e-15 0.452 --- 239,205,34,0.142 262,262,0,0.000 11.502 12.835 chr1 152281970 152281970 G A exonic FLG stopgain FLG:NM_002016:exon3:c.C5392T:p.R1798X Score=0.929016;Name=chr1:152275831 1 0.019723 N 0.829776 NA 0.528289 NA 0.738685 NA 1.0 D -8.58 295 48 0.140 355 0 0.000 2.55998232992504344e-16 0.542 --- 306,264,42,0.137 307,307,0,0.000 13.330 60 chr1 152800046 152800046 G A exonic LCE1A nonsynonymous SNV LCE1A:NM_178348:exon1:c.G98A:p.C33Y Score=405;Name=lod=59 0.998841 C 0.780612 NA 0.436804 NA 0.98193 N 0.003511 N 3.88 105 23 0.180 141 0 0.000 1.2252511906704795e-08 0.565 --- 121,93,25,0.212 134,134,0,0.000 8.893 7.547 chr1 153660157 153660157 G T exonic NPR1 nonsynonymous SNV NPR1:NM_000906:exon14:c.G2140T:p.V714L Score=633;Name=lod=496 0.14 0.980859 C 0.88 T 0.0 B 0.981618 N 8.84E-4 N 2.54 133 35 0.208 129 0 0.000 7.68938479022013243e-10 0.486 --- 143,111,32,0.224 106,106,0,0.000 8.247 10.674 chr1 153661735 153661735 T C exonic NPR1 nonsynonymous SNV NPR1:NM_000906:exon17:c.T2636C:p.F879S Score=597;Name=lod=356 0 0.994193 C 1.0 D 1.0 D 1.0 D 0.999998 D 3.08 162 32 0.165 175 0 0.000 3.17420127955232772e-10 0.469 --- 175,149,26,0.149 157,157,0,0.000 7.623 11.577 chr1 153915571 153915571 C T exonic DENND4B nonsynonymous SNV DENND4B:NM_014856:exon3:c.G353A:p.G118D Score=706;Name=lod=987 0.54 178 50 0.219 237 0 0.000 1.54078318534537482e-17 0.300 --- 187,145,42,0.225 200,200,0,0.000 14.430 6.567 chr1 155015962 155015962 C T exonic DCST1 synonymous SNV DCST1:NM_001143687:exon9:c.C1074T:p.C358C,DCST1:NM_152494:exon10:c.C1149T:p.C383C Score=369;Name=lod=42 218 53 0.196 238 0 0.000 2.28146408383872967e-16 0.321 --- 223,177,46,0.206 193,191,0,0.000 13.148 8.256 chr1 155029812 155029812 G A exonic ADAM15 nonsynonymous SNV ADAM15:NM_001261464:exon12:c.G1327A:p.E443K,ADAM15:NM_001261465:exon12:c.G1297A:p.E433K,ADAM15:NM_001261466:exon12:c.G1249A:p.E417K,ADAM15:NM_003815:exon12:c.G1297A:p.E433K,ADAM15:NM_207191:exon12:c.G1297A:p.E433K,ADAM15:NM_207194:exon12:c.G1297A:p.E433K,ADAM15:NM_207195:exon12:c.G1297A:p.E433K,ADAM15:NM_207196:exon12:c.G1297A:p.E433K,ADAM15:NM_207197:exon12:c.G1297A:p.E433K Score=500;Name=lod=143 0 0.990407 C 1.0 D 0.847 P 0.995461 N 0.679776 D 3.49 195 39 0.167 224 0 0.000 8.99408611482093215e-13 0.359 --- 204,168,36,0.176 193,193,0,0.000 11.080 8.775 chr1 155159836 155159836 G A exonic MUC1 nonsynonymous SNV MUC1:NM_001044393:exon6:c.C370T:p.P124S,MUC1:NM_001204293:exon6:c.C490T:p.P164S,MUC1:NM_001204288:exon7:c.C553T:p.P185S Score=272;Name=lod=17 200 46 0.187 243 0 0.000 2.87530120961711286e-15 0.457 --- 213,171,40,0.190 208,208,0,0.000 12.613 15.176 chr1 155170780 155170780 T A exonic THBS3 nonsynonymous SNV THBS3:NM_001252608:exon11:c.A1096T:p.T366S,THBS3:NM_001252607:exon12:c.A1429T:p.T477S,THBS3:NM_007112:exon13:c.A1456T:p.T486S Score=599;Name=lod=361 0 0.997149 C 0.99 D 0.98 D 1.0 D 0.601169 D 4.4 182 45 0.198 218 0 0.000 7.36403124097669529e-15 0.533 --- 201,159,42,0.209 191,191,0,0.000 13.160 60 chr1 155254459 155254459 G A exonic HCN3 nonsynonymous SNV HCN3:NM_020897:exon4:c.G1000A:p.V334I Score=599;Name=lod=362 0.007535 0.0023 rs61749584 0.12 0.99949 C 0.76 T 0.054 B 0.99985 D 0.553721 D 5.01 158 58 0.269 207 0 0.000 1.61703355366502789e-19 0.431 --- 180,136,43,0.240 162,161,0,0.000 13.035 60 chr1 155988082 155988082 A T exonic SSR2 nonsynonymous SNV SSR2:NM_003145:exon3:c.T233A:p.V78D Score=648;Name=lod=573 0 0.998538 C 1.0 D 0.999 D 1.0 D 0.999902 D 4.59 63 15 0.192 92 0 0.000 3.76920294716853347e-06 0.600 --- 62,51,11,0.177 70,70,0,0.000 3.833 11.655 chr1 156051498 156051498 C T exonic MEX3A nonsynonymous SNV MEX3A:NM_001093725:exon1:c.G292A:p.A98T Score=647;Name=lod=570 21 8 0.276 25 0 0.000 0.00516472531019016012 0.125 --- 25,18,7,0.280 25,25,0,0.000 2.017 3.655 chr1 156142718 156142718 C T exonic SEMA4A synonymous SNV SEMA4A:NM_001193302:exon9:c.C840T:p.G280G,SEMA4A:NM_001193300:exon11:c.C1236T:p.G412G,SEMA4A:NM_001193301:exon11:c.C1236T:p.G412G,SEMA4A:NM_022367:exon11:c.C1236T:p.G412G Score=449;Name=lod=89 95 15 0.136 161 0 0.000 7.3051966517510455e-07 0.533 --- 91,79,12,0.132 133,132,0,0.000 4.870 8.225 chr1 156146734 156146734 C A exonic SEMA4A synonymous SNV SEMA4A:NM_001193302:exon13:c.C1836A:p.T612T,SEMA4A:NM_001193300:exon15:c.C2232A:p.T744T,SEMA4A:NM_001193301:exon15:c.C2232A:p.T744T,SEMA4A:NM_022367:exon15:c.C2232A:p.T744T 132 32 0.195 170 0 0.000 2.36936625682770447e-11 0.219 --- 138,111,27,0.196 142,142,0,0.000 8.917 14.574 chr1 156255708 156255708 A G exonic TMEM79 nonsynonymous SNV TMEM79:NM_032323:exon2:c.A691G:p.T231A Score=374;Name=lod=44 0.08 0.998868 C 0.77 T 0.98 D 0.999976 D 0.0976 N 5.39 154 37 0.194 192 0 0.000 9.52887112649479594e-13 0.405 --- 172,138,33,0.193 168,168,0,0.000 10.361 15.955 chr1 156503808 156503808 G A exonic IQGAP3 nonsynonymous SNV IQGAP3:NM_178229:exon30:c.C3866T:p.T1289M Score=554;Name=lod=237 ID=COSM1210865;OCCURENCE=1(large_intestine) 0 0.993499 C 0.99 D 0.851 D 1.0 D 0.99959 D 3.71 166 29 0.149 188 0 0.000 1.37568206348106349e-09 0.483 --- 166,139,27,0.163 151,151,0,0.000 8.037 15.654 chr1 156551499 156551499 C T exonic TTC24 stopgain TTC24:NM_001105669:exon2:c.C343T:p.R115X 0.98 210 32 0.132 253 0 0.000 3.69794322087879719e-11 0.562 --- 194,167,27,0.139 206,206,0,0.000 8.919 13.557 chr1 156816408 156816408 G A exonic INSRR synonymous SNV INSRR:NM_014215:exon8:c.C1713T:p.Y571Y Score=653;Name=lod=600 0.000077 rs201065454 112 19 0.145 152 0 0.000 2.07440882495597071e-07 0.579 --- 111,97,14,0.126 119,119,0,0.000 4.626 10.91 chr1 156834153 156834153 G A exonic NTRK1 nonsynonymous SNV NTRK1:NM_001012331:exon2:c.G220A:p.E74K,NTRK1:NM_002529:exon2:c.G220A:p.E74K,NTRK1:NM_001007792:exon3:c.G130A:p.E44K Score=407;Name=lod=60 0.06 0.999321 C 0.89 T 0.193 P 0.999664 D 0.987905 D 4.26 70 8 0.103 85 0 0.000 0.00225880462792218703 0.625 --- 68,61,7,0.103 71,71,0,0.000 2.245 7.057 chr1 157805813 157805813 C T exonic CD5L nonsynonymous SNV CD5L:NM_005894:exon3:c.G188A:p.R63Q Score=464;Name=lod=103 0.000154 rs201351165 0.12 0.975227 C 0.99 D 0.964 D 0.959674 N 0.317598 N 1.95 142 28 0.165 164 0 0.000 2.48821123860295211e-09 0.286 --- 141,117,24,0.170 133,133,0,0.000 7.291 15.955 chr1 158449704 158449704 T C exonic OR10R2 nonsynonymous SNV OR10R2:NM_001004472:exon1:c.T37C:p.F13L 0.33 0.184914 N 1.0 D 0.0 B 0.608662 NA 0.014708 N -0.39 73 15 0.170 65 0 0.000 0.000168204573726329112 0.733 --- 75,61,14,0.187 61,61,0,0.000 3.597 15.256 chr1 158746585 158746585 G A exonic OR6N2 synonymous SNV OR6N2:NM_001005278:exon1:c.C841T:p.L281L 77 24 0.238 97 0 0.000 2.80304032997334091e-08 0.625 --- 83,65,18,0.217 86,86,0,0.000 6.015 60 chr1 159505016 159505016 G A exonic OR10J5 nonsynonymous SNV OR10J5:NM_001004469:exon1:c.C782T:p.P261L Score=405;Name=lod=59 ID=COSM385807;OCCURENCE=1(lung) 0 0.97991 C 1.0 D 0.995 D 0.893597 NA 0.129505 N 2.68 86 22 0.204 132 0 0.000 6.37134545828991452e-09 0.591 --- 95,74,20,0.213 119,118,0,0.000 7.608 15.955 chr1 159750900 159750900 C T exonic DUSP23 stopgain DUSP23:NM_017823:exon2:c.C10T:p.Q4X 0.54 0.775627 N 0.885956 NA 0.698541 NA 0.999336 N 1.0 A -0.532 178 40 0.183 210 0 0.000 3.28411097838046742e-13 0.750 --- 183,149,34,0.186 181,181,0,0.000 10.664 10.537 chr1 159783343 159783343 C T exonic FCRL6 synonymous SNV FCRL6:NM_001004310:exon7:c.C1074T:p.N358N 0.000231 rs201047193 65 11 0.145 95 0 0.000 8.68506749442753735e-05 0.273 --- 61,52,9,0.148 70,70,0,0.000 3.135 8.096 chr1 159906616 159906616 A G exonic IGSF9 synonymous SNV IGSF9:NM_001135050:exon5:c.T483C:p.R161R,IGSF9:NM_020789:exon5:c.T483C:p.R161R 170 28 0.141 189 0 0.000 3.23884084830581455e-09 0.536 --- 156,135,20,0.129 153,152,0,0.000 5.998 11.938 chr1 160012209 160012209 G A exonic KCNJ10 synonymous SNV KCNJ10:NM_002241:exon2:c.C114T:p.N38N 0.000154 0.0005 rs151068619 152 25 0.141 175 0 0.000 2.40949155674733433e-08 0.320 --- 155,133,22,0.142 141,141,0,0.000 6.469 13.179 chr1 160054271 160054271 G A exonic KCNJ9 nonsynonymous SNV KCNJ9:NM_004983:exon2:c.G451A:p.A151T Score=813;Name=lod=2680 0 0.998531 C 1.0 D 0.977 D 1.0 D 0.740712 D 4.22 227 41 0.153 261 0 0.000 1.98748890247493309e-13 0.610 --- 227,189,38,0.167 234,233,0,0.000 12.399 12.984 chr1 162824606 162824606 C T exonic C1orf110 synonymous SNV C1orf110:NM_178550:exon4:c.G858A:p.R286R 113 27 0.193 176 0 0.000 6.10236863964507908e-11 0.667 --- 127,103,23,0.183 156,156,0,0.000 8.576 13.262 chr1 165797123 165797123 G A exonic UCK2 nonsynonymous SNV UCK2:NM_012474:exon1:c.G53A:p.G18D Score=598;Name=lod=360 0.39 0.976505 C 0.34 T 0.0010 B 0.993857 N 0.318378 N 2.16 86 30 0.259 126 0 0.000 2.79444932546740729e-11 0.433 --- 89,68,21,0.236 98,98,0,0.000 7.379 60 chr1 167653213 167653213 G T exonic RCSD1 nonsynonymous SNV RCSD1:NM_052862:exon2:c.G83T:p.R28M Score=381;Name=lod=47 0 0.999417 C 0.901498 NA 0.992 D 0.999883 D 0.097651 N 4.9 126 17 0.119 175 0 0.000 7.22071837558086028e-07 0.412 --- 115,102,13,0.113 135,135,0,0.000 4.552 8.056 chr1 170934301 170934301 G A exonic MROH9 nonsynonymous SNV MROH9:NM_001163629:exon7:c.G385A:p.V129M,MROH9:NM_025063:exon7:c.G385A:p.V129M 0.000168 rs199713511 0.11 0.179461 N 0.9 T 0.0020 B 0.134795 N 5.54E-4 N -2.43 40 10 0.200 86 0 0.000 2.41662190668622339e-05 0.700 --- 41,33,8,0.195 63,63,0,0.000 3.431 5.353 chr1 170961421 170961421 C T exonic MROH9 nonsynonymous SNV MROH9:NM_001163629:exon12:c.C1145T:p.T382M,MROH9:NM_025063:exon12:c.C1145T:p.T382M rs201493255 0.1 0.001714 N 0.92 T 0.0070 B 0.004338 N 0.002576 N -10.4 140 26 0.157 176 0 0.000 2.31204449693756345e-09 0.500 --- 136,114,22,0.162 149,149,0,0.000 7.487 11.928 chr1 170983373 170983373 A T exonic MROH9 nonsynonymous SNV MROH9:NM_001163629:exon16:c.A1712T:p.H571L 0.15 86 14 0.140 104 0 0.000 2.81209421674677562e-05 0.429 --- 75,64,11,0.147 76,76,0,0.000 3.516 7.18 chr1 172356415 172356415 G A exonic DNM3 nonsynonymous SNV DNM3:NM_001136127:exon18:c.G2189A:p.G730E,DNM3:NM_015569:exon19:c.G2201A:p.G734E 0.55 140 42 0.231 230 0 0.000 6.39185277727952656e-17 0.500 --- 141,108,33,0.234 181,181,0,0.000 12.866 60 chr1 173616057 173616057 G A exonic ANKRD45 nonsynonymous SNV ANKRD45:NM_198493:exon3:c.C424T:p.R142W Score=439;Name=lod=81 0.000461 0.0009 rs117552597 0.03 0.989554 C 0.95 T 0.997 D 0.954342 N 0.882563 D 3.69 98 17 0.148 166 0 0.000 1.19727912666644338e-07 0.647 --- 99,82,16,0.163 135,135,0,0.000 6.352 12.562 chr1 174976305 174976305 C T exonic CACYBP nonsynonymous SNV CACYBP:NM_001007214:exon4:c.C275T:p.P92L,CACYBP:NM_014412:exon4:c.C404T:p.P135L Score=597;Name=lod=357 0.01 0.999326 C 0.99 D 1.0 D 1.0 D 0.999983 D 5.73 52 6 0.103 50 0 0.000 0.0294562120861141769 0.500 --- 43,38,5,0.116 38,38,0,0.000 1.243 3.399 chr1 175086216 175086216 C T exonic TNN nonsynonymous SNV TNN:NM_022093:exon10:c.C2261T:p.P754L 0.003691 0.0032 rs111972436 0.71 0.094835 N 0.29 T 0.314 P 0.964363 N 0.315314 N -1.71 188 38 0.168 247 0 0.000 1.10179922056444493e-13 0.553 --- 205,169,34,0.167 209,209,0,0.000 11.116 60 chr1 176526166 176526166 G A exonic PAPPA2 synonymous SNV PAPPA2:NM_020318:exon2:c.G708A:p.P236P,PAPPA2:NM_021936:exon2:c.G708A:p.P236P 0.000329 0 rs201332081 204 44 0.177 304 0 0.000 5.15471787752659791e-17 0.477 --- 223,181,41,0.185 269,269,0,0.000 15.099 60 chr1 179033504 179033504 C T exonic FAM20B nonsynonymous SNV FAM20B:NM_014864:exon6:c.C811T:p.R271C Score=489;Name=lod=130 ID=COSM1336628;OCCURENCE=1(large_intestine) 0 0.998946 C 1.0 D 1.0 D 1.0 D 0.999988 D 5.31 97 11 0.102 102 0 0.000 0.000778122235861095152 0.727 --- 88,78,10,0.114 83,83,0,0.000 2.812 5.915 chr1 179078555 179078555 G A exonic ABL2 nonsynonymous SNV ABL2:NM_001168236:exon11:c.C1784T:p.A595V,ABL2:NM_001168238:exon11:c.C1784T:p.A595V,ABL2:NM_001168239:exon11:c.C1739T:p.A580V,ABL2:NM_001136000:exon12:c.C1802T:p.A601V,ABL2:NM_001168237:exon12:c.C1847T:p.A616V,ABL2:NM_005158:exon12:c.C1802T:p.A601V,ABL2:NM_007314:exon12:c.C1847T:p.A616V Score=776;Name=lod=1900 0.15 0.952797 C 0.78 T 0.011 B 0.937516 N 0.04106 N 3.06 161 28 0.148 192 0 0.000 1.00597520972469866e-09 0.500 --- 145,121,23,0.160 157,156,0,0.000 7.762 10.788 chr1 179398677 179398677 T C exonic AXDND1 synonymous SNV AXDND1:NM_144696:exon13:c.T1255C:p.L419L 54 6 0.100 56 0 0.000 0.0278148228092678317 0.833 --- 44,39,5,0.114 48,48,0,0.000 1.656 4.313 chr1 181727935 181727935 C T exonic CACNA1E synonymous SNV CACNA1E:NM_001205294:exon31:c.C4479T:p.Y1493Y,CACNA1E:NM_000721:exon32:c.C4536T:p.Y1512Y,CACNA1E:NM_001205293:exon32:c.C4536T:p.Y1512Y Score=566;Name=lod=267 74 10 0.119 79 0 0.000 0.0015261927462256452 0.600 --- 62,54,8,0.129 57,56,0,0.000 2.183 8.465 chr1 182353691 182353691 C T exonic GLUL nonsynonymous SNV GLUL:NM_001033044:exon7:c.G971A:p.R324H,GLUL:NM_001033056:exon7:c.G971A:p.R324H,GLUL:NM_002065:exon8:c.G971A:p.R324H Score=503;Name=lod=148 ID=COSM1208362;OCCURENCE=1(large_intestine) 0 0.998682 C 1.0 D 0.998 D 1.0 D 0.999999 D 5.11 109 19 0.148 152 0 0.000 1.5918589251905235e-07 0.579 --- 107,91,16,0.150 125,125,0,0.000 5.660 9.26 chr1 182545397 182545397 T C exonic RNASEL nonsynonymous SNV RNASEL:NM_021133:exon6:c.A2033G:p.H678R 0.02 0.998073 C 0.98 D 0.536 P 0.999242 N 0.005209 N 5.02 78 18 0.188 99 0 0.000 1.18349877340677929e-06 0.722 --- 75,61,14,0.187 80,80,0,0.000 4.713 10.105 chr1 182850735 182850735 C T exonic DHX9 nonsynonymous SNV DHX9:NM_001357:exon24:c.C2867T:p.A956V Score=579;Name=lod=301 0.07 0.999211 C 0.99 D 0.07 B 1.0 D 0.99932 D 5.58 106 25 0.191 159 0 0.000 5.90484476402018632e-10 0.400 --- 118,97,20,0.171 135,135,0,0.000 7.076 9.94 chr1 182852658 182852658 C T exonic DHX9 stopgain DHX9:NM_001357:exon26:c.C3148T:p.R1050X Score=566;Name=lod=265 1 0.976397 C 0.901983 NA 0.731678 NA 1.0 D 1.0 A 4.11 70 24 0.255 102 0 0.000 3.81419749629393379e-09 0.750 --- 81,59,22,0.272 84,84,0,0.000 7.527 6.539 chr1 183106867 183106867 G T exonic LAMC1 stopgain LAMC1:NM_002293:exon26:c.G4378T:p.E1460X Score=369;Name=lod=42 0.1 0.9997 C 0.903845 NA 0.735497 NA 0.999925 D 1.0 A 5.41 84 15 0.152 120 0 0.000 3.59695573610001112e-06 0.600 --- 80,68,12,0.150 89,89,0,0.000 4.101 8.237 chr1 186008051 186008051 C T exonic HMCN1 nonsynonymous SNV HMCN1:NM_031935:exon38:c.C5942T:p.A1981V Score=300;Name=lod=22 0.12 0.999311 C 0.0 T 0.989 D 1.0 D 0.99869 D 5.71 57 14 0.197 77 0 0.000 1.6360581268425399e-05 0.500 --- 56,45,11,0.196 64,64,0,0.000 3.892 11.378 chr1 186277315 186277315 A G exonic PRG4 nonsynonymous SNV PRG4:NM_001127710:exon4:c.A2062G:p.T688A,PRG4:NM_001127709:exon5:c.A2185G:p.T729A,PRG4:NM_001127708:exon6:c.A2341G:p.T781A,PRG4:NM_005807:exon7:c.A2464G:p.T822A 0.05 0.946053 N 0.93 T 0.404295 NA 0.381305 U 0.01144 N 0.396 298 51 0.146 400 0 0.000 1.48870283441327221e-18 0.314 --- 327,270,51,0.159 363,357,0,0.000 17.547 13.034 chr1 193050583 193050583 T G exonic TROVE2 synonymous SNV TROVE2:NM_001042369:exon6:c.T1176G:p.A392A,TROVE2:NM_001042370:exon6:c.T1176G:p.A392A,TROVE2:NM_001173524:exon6:c.T1176G:p.A392A,TROVE2:NM_001173525:exon6:c.T1176G:p.A392A,TROVE2:NM_004600:exon6:c.T1176G:p.A392A Score=485;Name=lod=125 56 11 0.164 94 0 0.000 3.86092662636790572e-05 0.455 --- 49,41,8,0.163 70,70,0,0.000 3.240 9.157 chr1 196658724 196658724 C A exonic CFH stopgain CFH:NM_000186:exon8:c.C1139A:p.S380X,CFH:NM_001014975:exon8:c.C1139A:p.S380X Score=0.914044;Name=chr1:196748278 0.02 0.053085 N 0.832289 NA 0.535432 NA 0.748085 NA 1.0 A -4.11 113 19 0.144 176 0 0.000 4.60928553097619401e-08 0.211 --- 116,99,17,0.147 144,144,0,0.000 6.262 7.823 chr1 197021813 197021813 A G exonic F13B synonymous SNV F13B:NM_001994:exon9:c.T1506C:p.S502S 84 13 0.134 91 0 0.000 0.000170866797370810985 0.615 --- 80,68,12,0.150 71,71,0,0.000 3.409 5.176 chr1 197074170 197074170 C A exonic ASPM nonsynonymous SNV ASPM:NM_018136:exon18:c.G4211T:p.W1404L Score=431;Name=lod=75 0.26 0.998648 C 0.84 T 0.697471 NA 0.998819 N 0.990714 D 5.08 99 20 0.168 178 0 0.000 4.02902188381973574e-09 0.450 --- 103,84,19,0.184 155,155,0,0.000 8.050 11.684 chr1 200868656 200868656 G T exonic C1orf106 nonsynonymous SNV C1orf106:NM_001142569:exon3:c.G111T:p.Q37H,C1orf106:NM_018265:exon3:c.G408T:p.Q136H Score=466;Name=lod=104 0.03 0.972332 C 0.97 D 0.998 D 0.998829 N 0.044586 N 2.8 186 33 0.151 234 0 0.000 9.97902401676439497e-12 0.636 --- 162,136,26,0.160 172,172,0,0.000 8.657 7.028 chr1 201380522 201380522 G A exonic TNNI1 unknown UNKNOWN Score=647;Name=lod=570 0 0.998712 C 1.0 D 0.195 P 1.0 D 0.999814 D 4.32 187 31 0.142 191 0 0.000 1.74298182576078325e-09 0.710 --- 176,150,26,0.148 160,160,0,0.000 7.685 9.005 chr1 201984335 201984335 A G splicing ELF3 NM_001114309:exon9:c.1002-2A>G,NM_004433:exon9:c.1002-2A>G Score=578;Name=lod=297 69 8 0.104 88 0 0.000 0.00183475704810530934 0.875 --- 76,67,8,0.107 78,76,0,0.000 2.517 5.366 chr1 202698199 202698199 G A exonic KDM5B nonsynonymous SNV KDM5B:NM_006618:exon27:c.C4600T:p.R1534C Score=715;Name=lod=1073 0.000077 0.03 0.993863 C 0.93 T 0.864 D 0.999672 D 0.404299 N 4.53 123 26 0.174 147 0 0.000 9.10680767336130867e-09 0.462 --- 118,97,20,0.171 123,123,0,0.000 6.635 13.29 chr1 204948170 204948170 G A exonic NFASC nonsynonymous SNV NFASC:NM_001160331:exon16:c.G1984A:p.G662R,NFASC:NM_001160332:exon17:c.G1939A:p.G647R,NFASC:NM_015090:exon17:c.G1939A:p.G647R,NFASC:NM_001005388:exon18:c.G1951A:p.G651R Score=340;Name=lod=32 0 0.984079 C 1.0 D 0.997 D 0.999975 D 0.995253 D 3.57 92 21 0.186 108 0 0.000 3.78482847288980855e-07 0.524 --- 88,71,17,0.193 87,87,0,0.000 5.187 12.651 chr1 205022360 205022360 C T exonic CNTN2 nonsynonymous SNV CNTN2:NM_005076:exon2:c.C47T:p.A16V 1 0.998663 C 0.0 T 0.0 B 0.848792 N 0.017091 N 4.57 76 18 0.191 99 0 0.000 9.46474044848358959e-07 0.389 --- 77,63,14,0.182 80,80,0,0.000 4.619 7.068 chr1 205039140 205039140 C T exonic CNTN2 synonymous SNV CNTN2:NM_005076:exon18:c.C2382T:p.R794R 165 19 0.103 196 0 0.000 6.25853834544037942e-07 0.263 --- 156,139,17,0.109 165,165,0,0.000 5.533 9.518 chr1 205041695 205041695 G A exonic CNTN2 nonsynonymous SNV CNTN2:NM_005076:exon21:c.G2816A:p.R939Q Score=435;Name=lod=78 0.53 0.992502 C 0.47 T 0.319 P 0.595452 U 0.036419 N 2.84 88 14 0.137 104 0 0.000 3.28596552397965699e-05 0.500 --- 80,70,10,0.125 80,80,0,0.000 2.839 8.944 chr1 205210923 205210923 C T exonic TMCC2 synonymous SNV TMCC2:NM_001242925:exon2:c.C264T:p.S88S,TMCC2:NM_014858:exon2:c.C498T:p.S166S Score=596;Name=lod=354 319 68 0.176 393 0 0.000 7.74494380596019382e-23 0.515 --- 322,267,55,0.171 341,341,0,0.000 18.377 11.192 chr1 206757920 206757920 G A exonic RASSF5 nonsynonymous SNV RASSF5:NM_182665:exon3:c.G433A:p.V145I,RASSF5:NM_182663:exon4:c.G892A:p.V298I,RASSF5:NM_182664:exon4:c.G892A:p.V298I Score=343;Name=lod=33 0.02 0.999498 C 0.92 T 0.873 D 0.999759 D 0.708284 D 5.03 181 26 0.126 247 0 0.000 5.45676147153076666e-10 0.500 --- 174,151,23,0.132 195,195,0,0.000 7.866 14.015 chr1 206767137 206767137 G A exonic EIF2D synonymous SNV EIF2D:NM_001201478:exon12:c.C1143T:p.T381T,EIF2D:NM_006893:exon14:c.C1515T:p.T505T 109 20 0.155 124 0 0.000 9.19041206065384518e-07 0.300 --- 112,95,17,0.152 111,111,0,0.000 5.101 4.654 chr1 206906046 206906046 G A exonic MAPKAPK2 nonsynonymous SNV MAPKAPK2:NM_032960:exon10:c.G1186A:p.A396T Score=329;Name=lod=29 0.03 0.999299 C 0.91 T 0.529785 NA 0.885053 NA 0.173956 N 4.76 151 25 0.142 158 0 0.000 4.89645897077179408e-08 0.360 --- 152,133,19,0.125 133,133,0,0.000 5.402 8.654 chr1 207110815 207110815 C T exonic PIGR nonsynonymous SNV PIGR:NM_002644:exon4:c.G670A:p.D224N 0.22 0.06683 N 0.43 T 0.013 B 0.02153 N 0.011586 N -4.08 120 22 0.155 164 0 0.000 1.79954159326170184e-08 0.409 --- 123,103,20,0.163 142,141,1,0.007 5.683 10.179 chr1 207135816 207135816 A G exonic FCAMR nonsynonymous SNV FCAMR:NM_001170631:exon5:c.T394C:p.S132P,FCAMR:NM_032029:exon5:c.T394C:p.S132P,FCAMR:NM_001122979:exon6:c.T394C:p.S132P 0.01 0.027988 N 0.99 D 0.481 P 0.003719 N 0.276889 N -1.67 181 24 0.117 165 0 0.000 4.20093143549992045e-07 0.333 --- 170,150,20,0.118 138,137,0,0.000 5.251 9.802 chr1 207648508 207648508 G T exonic CR2 nonsynonymous SNV CR2:NM_001877:exon13:c.G2486T:p.R829M,CR2:NM_001006658:exon14:c.G2663T:p.R888M 0 0.773029 N 0.97 D 0.99 D 0.825488 NA 0.043364 N -0.942 141 40 0.221 195 0 0.000 1.6182844445096538e-14 0.350 --- 149,119,30,0.201 160,160,0,0.000 10.232 60 chr1 207940384 207940384 G A exonic CD46 nonsynonymous SNV CD46:NM_002389:exon6:c.G700A:p.E234K,CD46:NM_153826:exon6:c.G700A:p.E234K,CD46:NM_172350:exon6:c.G700A:p.E234K,CD46:NM_172351:exon6:c.G700A:p.E234K,CD46:NM_172352:exon6:c.G700A:p.E234K,CD46:NM_172353:exon6:c.G700A:p.E234K,CD46:NM_172359:exon6:c.G700A:p.E234K,CD46:NM_172361:exon6:c.G700A:p.E234K 0.05 6.97E-4 N 0.97 D 0.146 B 0.345166 N 0.01693 N -9.94 63 12 0.160 85 0 0.000 6.78475927666328519e-05 0.750 --- 63,53,10,0.159 68,68,0,0.000 3.353 8.944 chr1 210126075 210126075 T C exonic SYT14 nonsynonymous SNV SYT14:NM_001146261:exon2:c.T49C:p.Y17H,SYT14:NM_001146262:exon2:c.T35C:p.V12A,SYT14:NM_001146264:exon2:c.T49C:p.Y17H,SYT14:NM_153262:exon2:c.T35C:p.V12A Score=552;Name=lod=234 0 0.996831 C 1.0 D 0.952 D 0.999084 U 0.059637 N 4.8 46 6 0.115 74 0 0.000 0.00413357806259882967 0.500 --- 40,35,5,0.125 54,54,0,0.000 1.921 3.621 chr1 210857203 210857203 G T exonic KCNH1 nonsynonymous SNV KCNH1:NM_002238:exon11:c.C2309A:p.P770H,KCNH1:NM_172362:exon11:c.C2390A:p.P797H Score=374;Name=lod=44 0.998302 C 0.99 D 0.0030 B 0.999998 D 0.998353 D 4.11 178 42 0.191 265 0 0.000 3.60277762225108064e-16 0.500 --- 186,151,35,0.188 224,224,0,0.000 12.850 8.214 chr1 211652526 211652526 C T exonic RD3 nonsynonymous SNV RD3:NM_001164688:exon3:c.G440A:p.R147H,RD3:NM_183059:exon3:c.G440A:p.R147H Score=507;Name=lod=153 0.03 0.996801 C 0.89 T 0.909 D 0.842436 N 0.033599 N 4.28 158 30 0.160 180 0 0.000 6.44154264309091583e-10 0.500 --- 153,129,24,0.157 157,157,0,0.000 7.790 60 chr1 212506919 212506919 G T exonic PPP2R5A nonsynonymous SNV PPP2R5A:NM_001199756:exon3:c.G288T:p.E96D,PPP2R5A:NM_006243:exon3:c.G459T:p.E153D Score=539;Name=lod=206 0.12 0.998218 C 0.88 T 0.959 D 1.0 D 0.999186 D 2.09 76 15 0.165 109 0 0.000 3.74822156261581049e-06 0.467 --- 71,59,12,0.169 80,80,0,0.000 4.165 14.097 chr1 214171555 214171555 C T exonic PROX1 synonymous SNV PROX1:NM_001270616:exon2:c.C1677T:p.C559C,PROX1:NM_002763:exon2:c.C1677T:p.C559C Score=505;Name=lod=151 ID=COSM209859;OCCURENCE=2(large_intestine) 272 53 0.163 294 0 0.000 1.99785565793945566e-16 0.377 --- 272,225,46,0.170 247,246,0,0.000 13.600 60 chr1 215785199 215785199 T C exonic KCTD3 nonsynonymous SNV KCTD3:NM_016121:exon15:c.T1498C:p.F500L Score=603;Name=lod=376 0.06 0.989481 C 0.91 T 0.876 D 1.0 D 0.99999 D 5.01 49 12 0.197 97 0 0.000 5.29050971075510377e-06 0.750 --- 50,39,11,0.220 78,78,0,0.000 4.814 13.569 chr1 215792323 215792323 G A exonic KCTD3 nonsynonymous SNV KCTD3:NM_016121:exon16:c.G1658A:p.R553H Score=472;Name=lod=111 0 0.916253 N 1.0 D 0.999 D 1.0 D 0.999996 D 3.8 81 24 0.229 115 0 0.000 4.14932001902371718e-09 0.583 --- 79,59,20,0.253 92,92,0,0.000 7.348 15.955 chr1 215808007 215808007 G A exonic USH2A nonsynonymous SNV USH2A:NM_206933:exon70:c.C15091T:p.R5031W 0.012840 0.01 rs56038610 0.17 0.850042 N 0.95 T 0.0090 B 0.899879 N 1.92E-4 N 1.91 151 24 0.137 216 0 0.000 1.64331683666386264e-09 0.542 --- 142,121,21,0.148 178,178,0,0.000 7.794 10.918 chr1 215901443 215901443 G A exonic USH2A nonsynonymous SNV USH2A:NM_206933:exon61:c.C11995T:p.R3999C Score=358;Name=lod=38 0 0.059152 N 0.93 T 0.0010 B 0.965375 N 0.03282 N 3.81 197 33 0.143 236 0 0.000 2.17089605177777715e-11 0.545 --- 201,174,27,0.134 199,198,0,0.000 8.227 11.538 chr1 215987234 215987234 C T exonic USH2A nonsynonymous SNV USH2A:NM_206933:exon49:c.G9583A:p.G3195R Score=325;Name=lod=28 0.000077 rs149027999 0 0.983405 C 1.0 D 0.992 D 0.999703 D 0.998512 D 3.29 104 26 0.200 117 0 0.000 1.58420912710685064e-08 0.423 --- 114,92,20,0.179 105,105,0,0.000 6.042 10.37 chr1 216496893 216496893 C T exonic USH2A synonymous SNV USH2A:NM_007123:exon8:c.G1473A:p.G491G,USH2A:NM_206933:exon8:c.G1473A:p.G491G 121 27 0.182 231 0 0.000 1.94134935192387086e-12 0.481 --- 128,106,22,0.172 178,178,0,0.000 8.823 14.593 chr1 217793769 217793769 A T exonic GPATCH2 synonymous SNV GPATCH2:NM_018040:exon2:c.T129A:p.A43A Score=462;Name=lod=101 84 11 0.116 82 0 0.000 0.000944810546641009285 0.364 --- 77,69,8,0.104 74,74,0,0.000 2.187 7.049 chr1 221058030 221058030 C T exonic HLX nonsynonymous SNV HLX:NM_021958:exon4:c.C1451T:p.A484V 0.03 0.971753 C 1.0 D 0.0020 B 0.907556 N 3.89E-4 N 4.73 164 39 0.192 213 0 0.000 8.91425004271566936e-14 0.359 --- 173,137,36,0.208 174,174,0,0.000 11.768 10.589 chr1 222801761 222801761 C T exonic MIA3 nonsynonymous SNV MIA3:NM_198551:exon4:c.C1199T:p.T400M 0.0005 rs199626793 0.03 0.114017 N 1.0 D 0.0020 B 0.58957 NA 0.016199 N -2.84 153 20 0.116 185 0 0.000 2.64290096983161734e-07 0.450 --- 151,129,19,0.128 159,159,0,0.000 6.298 14.122 chr1 223116608 223116608 G A exonic DISP1 nonsynonymous SNV DISP1:NM_032890:exon4:c.G443A:p.C148Y Score=599;Name=lod=361 0 0.991702 C 1.0 D 0.997 D 1.0 D 0.989106 D 4.05 178 46 0.205 226 0 0.000 8.70365843336797813e-16 0.522 --- 189,151,38,0.201 182,182,0,0.000 11.933 60 chr1 223164079 223164079 G A exonic DISP1 nonsynonymous SNV DISP1:NM_032890:exon6:c.G652A:p.D218N Score=462;Name=lod=101 0.38 0.999628 C 0.62 T 0.051 B 1.0 D 0.965937 D 5.25 141 25 0.151 199 0 0.000 9.63807157052632485e-10 0.320 --- 137,117,20,0.146 158,158,0,0.000 7.009 9.846 chr1 223568415 223568415 G A exonic C1orf65 nonsynonymous SNV C1orf65:NM_152610:exon1:c.G1598A:p.R533Q 0.958027 C 0.33 T 0.979 D 0.89877 NA 0.031431 N 1.68 270 32 0.106 336 0 0.000 1.62119040720240309e-11 0.500 --- 262,235,27,0.103 280,280,0,0.000 8.840 11.814 chr1 223803722 223803722 G A exonic CAPN8 unknown UNKNOWN 0.000219 0.02 170 39 0.187 221 0 0.000 8.09291367850712832e-14 0.564 --- 168,138,30,0.179 181,181,0,0.000 10.165 14.398 chr1 223971912 223971912 T C exonic TP53BP2 nonsynonymous SNV TP53BP2:NM_001031685:exon17:c.A3268G:p.M1090V,TP53BP2:NM_005426:exon18:c.A2881G:p.M961V Score=450;Name=lod=90 0.12 0.975567 C 0.76 T 0.89 D 1.0 D 0.998114 D 4.6 118 27 0.186 128 0 0.000 2.10531330325991297e-08 0.481 --- 110,89,21,0.191 101,101,0,0.000 6.324 60 chr1 223983943 223983943 C T exonic TP53BP2 synonymous SNV TP53BP2:NM_001031685:exon13:c.G2298A:p.A766A,TP53BP2:NM_005426:exon14:c.G1911A:p.A637A Score=548;Name=lod=224 0 rs200527577 159 40 0.201 286 0 0.000 2.60063360772518998e-17 0.400 --- 179,139,39,0.219 235,234,0,0.000 15.362 60 chr1 226055644 226055644 A G exonic TMEM63A nonsynonymous SNV TMEM63A:NM_014698:exon7:c.T458C:p.V153A Score=650;Name=lod=582 0.13 0.999063 C 0.77 T 0.0020 B 0.994767 N 0.050773 N 5.56 165 28 0.145 226 0 0.000 1.20264867133779825e-10 0.536 --- 151,129,22,0.146 184,184,0,0.000 8.006 8.903 chr1 226552775 226552775 G A exonic PARP1 synonymous SNV PARP1:NM_001618:exon19:c.C2586T:p.H862H Score=556;Name=lod=243 ID=COSM1339292;OCCURENCE=1(large_intestine) 101 30 0.229 138 0 0.000 6.17374353871161065e-11 0.367 --- 114,89,25,0.219 112,112,0,0.000 7.860 12.817 chr1 227843185 227843185 A G exonic ZNF678 nonsynonymous SNV ZNF678:NM_178549:exon4:c.A1399G:p.K467E Score=340;Name=lod=32 0 0.9601 C 1.0 D 0.982 D 0.874458 NA 0.038719 N 1.05 171 37 0.178 266 0 0.000 8.14979667976359698e-15 0.486 --- 181,148,33,0.182 224,224,0,0.000 12.311 60 chr1 228468132 228468132 G A exonic OBSCN nonsynonymous SNV OBSCN:NM_001098623:exon29:c.G7916A:p.R2639H,OBSCN:NM_052843:exon29:c.G7916A:p.R2639H,OBSCN:NM_001271223:exon34:c.G9203A:p.R3068H 0.01 158 43 0.214 215 0 0.000 1.93952235369218524e-15 0.442 --- 177,139,38,0.215 192,192,0,0.000 13.129 14.386 chr1 228550344 228550344 G A exonic OBSCN synonymous SNV OBSCN:NM_001098623:exon80:c.G18729A:p.A6243A,OBSCN:NM_001271223:exon91:c.G21600A:p.A7200A 0.000499 rs200257210 143 17 0.106 208 0 0.000 4.27606176372292612e-07 0.647 --- 130,115,15,0.115 165,165,0,0.000 5.546 6.702 chr1 228559457 228559457 C G exonic OBSCN nonsynonymous SNV OBSCN:NM_001098623:exon94:c.C20978G:p.A6993G,OBSCN:NM_001271223:exon105:c.C23849G:p.A7950G 0.09 204 26 0.113 284 0 0.000 3.64283067828567391e-10 0.462 --- 203,178,24,0.119 240,240,0,0.000 8.503 9.492 chr1 229667384 229667384 G A exonic ABCB10 synonymous SNV ABCB10:NM_012089:exon7:c.C1434T:p.N478N Score=397;Name=lod=55 102 14 0.121 104 0 0.000 0.000103530979995442555 0.500 --- 93,83,10,0.108 81,81,0,0.000 2.733 4.057 chr1 230846493 230846493 C T exonic AGT nonsynonymous SNV AGT:NM_000029:exon2:c.G104A:p.R35Q Score=476;Name=lod=115 0 0.99886 C 1.0 D 1.0 D 1.0 D 0.979244 D 5.24 233 39 0.143 226 0 0.000 2.43898834155261273e-11 0.590 --- 211,179,32,0.152 187,187,0,0.000 9.118 13.113 chr1 232568181 232568181 A T exonic SIPA1L2 stopgain SIPA1L2:NM_020808:exon14:c.T4068A:p.C1356X Score=371;Name=lod=43 0.1 0.166713 N 0.837322 NA 0.598313 NA 0.998869 N 1.0 A -0.896 95 14 0.128 122 0 0.000 1.69580989138166677e-05 0.214 --- 99,88,11,0.111 107,107,0,0.000 3.633 6.817 chr1 233482322 233482322 G A exonic KIAA1804 nonsynonymous SNV KIAA1804:NM_032435:exon2:c.G940A:p.E314K Score=431;Name=lod=75 ID=COSM210360;OCCURENCE=1(large_intestine) 0 0.999202 C 1.0 D 0.978 D 1.0 D 0.998304 D 4.14 102 18 0.150 150 0 0.000 2.13558684965749052e-07 0.500 --- 97,82,15,0.155 117,117,0,0.000 5.432 8.478 chr1 233507804 233507804 G A exonic KIAA1804 nonsynonymous SNV KIAA1804:NM_032435:exon6:c.G1573A:p.V525M Score=490;Name=lod=131 ID=COSM1158266;OCCURENCE=1(pancreas) 0 0.999643 C 0.96 D 0.985 D 0.999998 D 0.91321 D 4.76 95 20 0.174 122 0 0.000 2.06635060310231152e-07 0.650 --- 94,79,15,0.160 103,103,0,0.000 5.095 14.955 chr1 233802400 233802400 G A exonic KCNK1 nonsynonymous SNV KCNK1:NM_002245:exon2:c.G415A:p.V139I Score=369;Name=lod=42 0.25 0.974416 C 0.56 T 0.0020 B 0.999853 N 0.988537 D 2.93 145 17 0.105 180 0 0.000 1.91081022150915631e-06 0.588 --- 134,117,17,0.127 148,147,0,0.000 5.713 6.646 chr1 234367292 234367292 G A exonic SLC35F3 nonsynonymous SNV SLC35F3:NM_173508:exon3:c.G413A:p.G138D Score=622;Name=lod=448 0.01 0.999267 C 1.0 D 0.995 D 1.0 D 0.993261 D 4.22 181 22 0.108 229 0 0.000 3.21971839128220279e-08 0.500 --- 170,153,17,0.100 187,187,0,0.000 5.669 9.5 chr1 236157061 236157061 G A exonic NID1 nonsynonymous SNV NID1:NM_002508:exon13:c.C2639T:p.A880V 0.62 0.895294 N 0.94 T 0.0 B 0.999801 D 0.033897 N 3.73 171 51 0.230 223 0 0.000 1.5259503655519331e-17 0.510 --- 185,141,43,0.234 172,172,0,0.000 13.479 13.637 chr1 236389627 236389627 T C exonic ERO1LB nonsynonymous SNV ERO1LB:NM_019891:exon12:c.A994G:p.N332D Score=470;Name=lod=108 0.18 0.997321 C 0.36 T 0.989 D 1.0 D 0.989871 D 4.99 114 21 0.156 153 0 0.000 5.03049069263704722e-08 0.476 --- 113,97,15,0.134 122,121,0,0.000 4.998 15.353 chr1 236738016 236738016 G A exonic HEATR1 nonsynonymous SNV HEATR1:NM_018072:exon23:c.C3272T:p.T1091I Score=265;Name=lod=16 0.999682 C 0.12 T 0.038 B 0.999882 D 0.749748 D 5.38 98 11 0.101 113 0 0.000 0.000305215636759307937 0.545 --- 92,83,9,0.098 88,88,0,0.000 2.491 8.494 chr1 236761267 236761267 G A exonic HEATR1 nonsynonymous SNV HEATR1:NM_018072:exon5:c.C514T:p.P172S Score=623;Name=lod=455 ID=COSM210463;OCCURENCE=1(large_intestine) 0.01 0.99967 C 1.0 D 0.77 P 1.0 D 0.999961 D 5.02 61 13 0.176 93 0 0.000 1.33916714854041446e-05 0.308 --- 60,49,11,0.183 72,72,0,0.000 4.004 8.823 chr1 237001729 237001729 G A exonic MTR nonsynonymous SNV MTR:NM_000254:exon15:c.G1345A:p.D449N Score=519;Name=lod=171 0 0.999734 C 1.0 D 0.999 D 1.0 D 0.600301 D 5.51 115 23 0.167 137 0 0.000 8.77674131959293534e-08 0.696 --- 117,96,20,0.172 118,118,0,0.000 6.487 13.379 chr1 237664025 237664025 A G exonic RYR2 nonsynonymous SNV RYR2:NM_001035:exon21:c.A2218G:p.T740A 1 105 13 0.110 123 0 0.000 6.50899834813030112e-05 0.846 --- 101,89,11,0.110 97,97,0,0.000 3.132 10.386 chr1 237791172 237791172 C A exonic RYR2 nonsynonymous SNV RYR2:NM_001035:exon41:c.C6232A:p.P2078T Score=577;Name=lod=294 0.03 195 38 0.163 227 0 0.000 1.57474617542189869e-12 0.632 --- 193,163,30,0.155 187,186,1,0.005 7.982 60 chr1 237881796 237881796 G A exonic RYR2 nonsynonymous SNV RYR2:NM_001035:exon73:c.G10529A:p.R3510H Score=514;Name=lod=163 0.000084 ID=COSM1560164;OCCURENCE=1(large_intestine) 0.2 39 6 0.133 61 0 0.000 0.00477462766845482474 0.667 --- 39,34,5,0.128 48,47,0,0.000 1.782 4.479 chr1 240370312 240370312 C T exonic FMN2 nonsynonymous SNV FMN2:NM_020066:exon5:c.C2200T:p.R734W 0.000538 rs145706266 0.01 0.183641 N 0.729552 NA 0.144326 NA 0.087877 N 6.25E-4 N -2.24 198 31 0.135 221 0 0.000 3.60384872928603527e-10 0.484 --- 192,166,26,0.135 188,188,0,0.000 7.907 13.215 chr1 240493952 240493952 C T exonic FMN2 nonsynonymous SNV FMN2:NM_020066:exon11:c.C4487T:p.A1496V Score=614;Name=lod=419 0.02 0.999262 C 0.903761 NA 0.735296 NA 0.999871 D 0.999597 D 5.64 123 30 0.196 190 0 0.000 5.3262969285502016e-12 0.567 --- 123,99,23,0.189 154,153,0,0.000 8.669 15.353 chr1 247013283 247013283 A T exonic AHCTF1 nonsynonymous SNV AHCTF1:NM_015446:exon33:c.T6052A:p.S2018T Score=340;Name=lod=32 Score=0.986241;Name=chr2:162357811 0.23 0.998984 C 0.77 T 0.849 P 0.998112 N 0.402969 N 5.49 180 34 0.159 220 0 0.000 8.56606587043866714e-12 0.500 --- 193,160,33,0.171 193,193,0,0.000 10.283 9.35 chr1 247024392 247024392 G T exonic AHCTF1 nonsynonymous SNV AHCTF1:NM_015446:exon29:c.C3968A:p.S1323Y Score=251;Name=lod=14 0 0.999806 C 1.0 D 0.983 D 0.999975 D 0.993075 D 4.68 161 33 0.170 187 0 0.000 6.23183785601300734e-11 0.424 --- 155,127,28,0.181 158,157,0,0.000 9.093 10.11 chr1 247464570 247464570 T C exonic ZNF496 nonsynonymous SNV ZNF496:NM_032752:exon9:c.A1015G:p.N339D 0.43 0.121891 N 0.26 T 0.0010 B 0.458276 N 0.002304 N -2.22 145 26 0.152 183 1 0.005 3.75719702149262048e-08 0.423 0.000 137,117,20,0.146 161,159,1,0.006 5.971 12.054 chr1 249107313 249107313 G A exonic SH3BP5L stopgain SH3BP5L:NM_030645:exon6:c.C586T:p.R196X Score=562;Name=lod=256 1 0.998426 C 0.903742 NA 0.735301 NA 1.0 D 1.0 A 2.33 156 37 0.192 211 0 0.000 1.84001190026865108e-13 0.486 --- 160,127,33,0.206 166,165,0,0.000 10.967 7.0 chr2 1642698 1642698 G A exonic PXDN nonsynonymous SNV PXDN:NM_012293:exon21:c.C4126T:p.R1376C 0.000392 rs202081704 0.12 128 40 0.238 191 0 0.000 3.91513881662977928e-15 0.425 --- 140,106,34,0.243 152,151,0,0.000 11.831 13.5 chr2 3691462 3691462 C T exonic COLEC11 synonymous SNV COLEC11:NM_001255989:exon4:c.C348T:p.A116A,COLEC11:NM_001255984:exon5:c.C426T:p.A142A,COLEC11:NM_001255987:exon5:c.C420T:p.A140A,COLEC11:NM_001255988:exon5:c.C420T:p.A140A,COLEC11:NM_001255982:exon6:c.C498T:p.A166A,COLEC11:NM_001255983:exon6:c.C498T:p.A166A,COLEC11:NM_001255986:exon6:c.C492T:p.A164A,COLEC11:NM_024027:exon7:c.C570T:p.A190A,COLEC11:NM_001255985:exon8:c.C612T:p.A204A,COLEC11:NM_199235:exon8:c.C561T:p.A187A 0.0082 189 40 0.175 276 0 0.000 2.38925198048735234e-15 0.575 --- 198,164,34,0.172 226,226,0,0.000 11.960 14.386 chr2 5833738 5833738 C T exonic SOX11 synonymous SNV SOX11:NM_003108:exon1:c.C885T:p.D295D Score=701;Name=lod=941 174 42 0.194 244 0 0.000 1.56910929187343417e-15 0.524 --- 195,156,39,0.200 212,212,0,0.000 13.417 60 chr2 9683334 9683334 G T exonic ADAM17 nonsynonymous SNV ADAM17:NM_003183:exon2:c.C178A:p.L60I Score=405;Name=lod=59 0.000846 rs112594248 0.58 0.992345 C 0.36 T 0.024 B 0.999813 D 0.184701 N 4.38 117 30 0.204 142 0 0.000 4.04852298960678128e-10 0.467 --- 123,99,24,0.195 123,122,1,0.008 6.308 12.541 chr2 10717772 10717772 G A exonic NOL10 nonsynonymous SNV NOL10:NM_001261392:exon19:c.C1859T:p.T620M,NOL10:NM_001261394:exon19:c.C1787T:p.T596M,NOL10:NM_024894:exon20:c.C1937T:p.T646M Score=449;Name=lod=89 0.999778 C 0.94 T 0.159 P 1.0 D 0.995555 D 5.64 68 18 0.209 82 0 0.000 3.05682020161124113e-06 0.667 --- 65,51,14,0.215 61,61,0,0.000 4.218 13.193 chr2 11367471 11367471 A G exonic ROCK2 synonymous SNV ROCK2:NM_004850:exon6:c.T777C:p.P259P Score=476;Name=lod=115 91 23 0.202 142 0 0.000 2.12475203968083335e-09 0.609 --- 91,74,17,0.187 108,108,0,0.000 6.164 60 chr2 11733230 11733230 C T exonic GREB1 synonymous SNV GREB1:NM_014668:exon11:c.C1674T:p.I558I Score=419;Name=lod=67 92 13 0.124 107 0 0.000 7.24232094684071007e-05 0.462 --- 88,77,11,0.125 89,89,0,0.000 3.484 9.499 chr2 11750833 11750833 G A exonic GREB1 nonsynonymous SNV GREB1:NM_014668:exon18:c.G2686A:p.A896T Score=540;Name=lod=208 0.000079 0.1 0.999392 C 0.792113 NA 0.468189 NA 1.0 D 0.098345 N 4.89 75 14 0.157 104 0 0.000 1.08392376252191699e-05 0.857 --- 74,62,12,0.162 89,89,0,0.000 4.344 13.778 chr2 11777913 11777913 C T exonic GREB1 synonymous SNV GREB1:NM_014668:exon31:c.C5418T:p.L1806L Score=349;Name=lod=35 112 30 0.211 142 0 0.000 1.67927353681982708e-10 0.633 --- 113,87,26,0.230 108,108,0,0.000 8.163 13.069 chr2 15492114 15492114 A G splicing NBAS NM_015909:exon36:c.4179+2T>C Score=317;Name=lod=26 44 11 0.200 65 0 0.000 0.000103089035473178517 0.545 --- 48,38,10,0.208 52,52,0,0.000 3.423 11.669 chr2 18112958 18112958 C T exonic KCNS3 nonsynonymous SNV KCNS3:NM_002252:exon3:c.C683T:p.A228V 0.000077 rs145204663 1 0.999319 C 0.0 T 0.0 B 0.98444 N 0.856106 D 5.72 178 26 0.127 238 2 0.008 1.02134984615534432e-07 0.500 0.500 178,154,23,0.130 200,199,1,0.005 6.525 12.573 chr2 20233040 20233040 A G exonic LAPTM4A nonsynonymous SNV LAPTM4A:NM_014713:exon7:c.T628C:p.Y210H Score=518;Name=lod=170 0.21 0.998941 C 0.79 T 0.997 D 1.0 D 0.999813 D 5.11 60 11 0.155 66 0 0.000 0.000686553337927016366 0.364 --- 54,45,9,0.167 51,51,0,0.000 2.556 8.953 chr2 21234034 21234034 C T exonic APOB synonymous SNV APOB:NM_000384:exon26:c.G5706A:p.P1902P 0.000077 rs145277222 195 39 0.167 258 0 0.000 4.23690709934635971e-14 0.538 --- 203,169,33,0.163 208,208,0,0.000 10.772 12.43 chr2 24199883 24199883 C T exonic UBXN2A synonymous SNV UBXN2A:NM_181713:exon4:c.C225T:p.N75N Score=592;Name=lod=338 0.000154 75 22 0.227 98 0 0.000 5.52414710930314143e-08 0.455 --- 82,65,17,0.207 82,82,0,0.000 5.218 12.132 chr2 24952419 24952419 C T exonic NCOA1 nonsynonymous SNV NCOA1:NM_003743:exon15:c.C2936T:p.T979M,NCOA1:NM_147223:exon15:c.C2936T:p.T979M,NCOA1:NM_147233:exon15:c.C2936T:p.T979M Score=650;Name=lod=582 0.0082 0 0.999007 C 0.96 D 0.886 D 0.999507 D 0.984681 D 4.28 129 22 0.146 174 0 0.000 1.965219177086474e-08 0.773 --- 128,108,20,0.156 143,143,0,0.000 6.883 60 chr2 26177152 26177152 G A exonic KIF3C nonsynonymous SNV KIF3C:NM_002254:exon4:c.C1873T:p.R625C Score=534;Name=lod=197 0 0.998946 C 1.0 D 0.999 D 1.0 D 0.578774 D 2.91 73 19 0.207 102 0 0.000 2.35397991045148676e-07 0.632 --- 73,55,18,0.247 81,81,0,0.000 6.380 11.427 chr2 26596474 26596474 T C exonic EPT1 unknown UNKNOWN Score=561;Name=lod=253 0 112 31 0.217 117 0 0.000 1.79418722481227388e-09 0.323 --- 120,97,23,0.192 109,109,0,0.000 6.902 12.646 chr2 26690275 26690275 G A exonic OTOF synonymous SNV OTOF:NM_194322:exon16:c.C2115T:p.S705S,OTOF:NM_004802:exon17:c.C1884T:p.S628S,OTOF:NM_194323:exon17:c.C1884T:p.S628S,OTOF:NM_194248:exon34:c.C4185T:p.S1395S 0.000077 ID=COSM121445,COSM121446;OCCURENCE=1(upper_aerodigestive_tract) rs148819838 135 18 0.118 150 0 0.000 4.53827003836687181e-06 0.278 --- 137,121,16,0.117 122,122,0,0.000 4.559 8.47 chr2 27352392 27352392 C T exonic ABHD1 nonsynonymous SNV ABHD1:NM_032604:exon5:c.C515T:p.A172V Score=484;Name=lod=124 0 0.91291 N 0.74 T 0.0020 B 0.988654 N 0.025046 N 2.68 126 18 0.125 113 0 0.000 2.26383631699704036e-05 0.444 --- 124,111,13,0.105 100,99,0,0.000 3.167 10.733 chr2 27355206 27355206 C T exonic PREB nonsynonymous SNV PREB:NM_013388:exon6:c.G818A:p.R273H Score=652;Name=lod=597 0.01 0.98795 C 0.97 D 1.0 D 1.0 N 0.998524 D 4.54 171 36 0.174 214 0 0.000 1.46282647385247309e-12 0.306 --- 180,147,33,0.183 168,168,0,0.000 10.092 11.234 chr2 27717423 27717423 C T exonic FNDC4 nonsynonymous SNV FNDC4:NM_022823:exon2:c.G124A:p.V42M Score=458;Name=lod=97 0 0.797712 N 1.0 D 0.474 P 0.451769 N 0.041166 N 0.563 126 34 0.213 142 0 0.000 9.96812062464932725e-11 0.500 --- 134,101,32,0.241 123,122,0,0.000 9.911 15.353 chr2 29416492 29416492 C T exonic ALK synonymous SNV ALK:NM_004304:exon29:c.G4461A:p.S1487S 198 24 0.108 247 0 0.000 8.02077229320536842e-09 0.583 --- 197,174,21,0.108 222,222,0,0.000 7.195 12.294 chr2 29474065 29474065 C T exonic ALK nonsynonymous SNV ALK:NM_004304:exon12:c.G2110A:p.A704T Score=584;Name=lod=315 rs34829159 0.01 0.998584 C 1.0 D 0.0060 B 0.999893 D 0.953021 D 5.03 136 20 0.128 154 0 0.000 1.00015250671664187e-06 0.400 --- 128,112,15,0.118 126,126,0,0.000 4.405 9.486 chr2 30974044 30974044 G A exonic CAPN13 synonymous SNV CAPN13:NM_144575:exon11:c.C1161T:p.C387C 0.0018 rs189917245 131 25 0.160 163 0 0.000 5.88782925339543402e-09 0.480 --- 130,111,19,0.146 129,129,0,0.000 5.726 15.176 chr2 31756542 31756542 C T exonic SRD5A2 unknown UNKNOWN Score=389;Name=lod=51 0 74 15 0.169 86 0 0.000 3.28688162669356341e-05 0.400 --- 70,57,13,0.186 68,68,0,0.000 3.874 6.899 chr2 32734926 32734926 T A exonic BIRC6 nonsynonymous SNV BIRC6:NM_016252:exon52:c.T10102A:p.S3368T Score=552;Name=lod=233 0.16 175 20 0.103 190 0 0.000 1.17434187016156564e-06 0.450 --- 165,146,19,0.115 161,161,0,0.000 5.648 9.862 chr2 37036085 37036085 C A exonic VIT synonymous SNV VIT:NM_001177970:exon13:c.C1752A:p.S584S,VIT:NM_001177971:exon13:c.C1749A:p.S583S,VIT:NM_001177969:exon14:c.C1815A:p.S605S,VIT:NM_053276:exon15:c.C1860A:p.S620S Score=480;Name=lod=119 255 61 0.193 304 0 0.000 6.4292078856009125e-20 0.426 --- 267,215,52,0.195 259,259,0,0.000 16.422 60 chr2 37516641 37516641 T C exonic PRKD3 nonsynonymous SNV PRKD3:NM_005813:exon4:c.A575G:p.Y192C Score=664;Name=lod=668 0 0.997453 C 0.97 D 0.948 D 1.0 D 0.999746 D 5.03 88 25 0.221 139 0 0.000 3.80064795905135957e-10 0.320 --- 95,74,21,0.221 120,120,0,0.000 8.048 9.319 chr2 38298023 38298023 C T exonic CYP1B1 nonsynonymous SNV CYP1B1:NM_000104:exon3:c.G1474A:p.D492N ID=COSM1020796;OCCURENCE=1(endometrium) 1 0.084912 N 0.42 T 0.0 B 0.987541 N 1.0E-6 N 0.401 140 27 0.162 188 0 0.000 4.28908496954505448e-10 0.481 --- 155,131,24,0.155 167,167,0,0.000 8.055 60 chr2 43965606 43965606 C T exonic PLEKHH2 nonsynonymous SNV PLEKHH2:NM_172069:exon20:c.C3070T:p.L1024F Score=578;Name=lod=298 0 0.998789 C 0.99 D 0.985 D 1.0 D 0.999994 D 5.18 114 24 0.174 128 0 0.000 5.72654451566130242e-08 0.500 --- 122,100,22,0.180 113,113,0,0.000 6.635 15.955 chr2 48033421 48033421 G A exonic MSH6 nonsynonymous SNV MSH6:NM_000179:exon8:c.G3725A:p.R1242H Score=409;Name=lod=61 0 0.99975 C 1.0 D 1.0 D 1.0 D 1.0 D 5.03 82 11 0.118 116 0 0.000 9.56893517017647161e-05 0.636 --- 77,70,7,0.091 93,93,0,0.000 2.475 5.538 chr2 50733708 50733708 C T exonic NRXN1 nonsynonymous SNV NRXN1:NM_004801:exon13:c.G2422A:p.E808K,NRXN1:NM_001135659:exon14:c.G2542A:p.E848K Score=637;Name=lod=519 0.000082 rs202145311 0.02 97 13 0.118 115 0 0.000 6.20620335632653555e-05 0.615 --- 83,73,10,0.120 87,86,0,0.000 3.215 9.908 chr2 50758547 50758547 T C exonic NRXN1 nonsynonymous SNV NRXN1:NM_004801:exon11:c.A2165G:p.D722G,NRXN1:NM_001135659:exon12:c.A2285G:p.D762G Score=529;Name=lod=188 0.01 61 18 0.228 118 0 0.000 1.96558393118375987e-08 0.444 --- 68,53,15,0.221 103,103,0,0.000 6.457 13.787 chr2 54587560 54587560 A G exonic C2orf73 nonsynonymous SNV C2orf73:NM_001100396:exon5:c.A725G:p.D242G Score=443;Name=lod=84 0 174 45 0.205 242 0 0.000 2.02302045664910083e-16 0.489 --- 179,140,39,0.218 208,208,0,0.000 14.142 13.101 chr2 54826327 54826327 C T exonic SPTBN1 stopgain SPTBN1:NM_178313:exon2:c.C208T:p.R70X,SPTBN1:NM_003128:exon3:c.C247T:p.R83X Score=596;Name=lod=354 1 0.801404 N 0.888004 NA 0.702898 NA 1.0 D 1.0 A 5.6 168 25 0.130 203 0 0.000 6.71382131670044313e-09 0.600 --- 144,124,20,0.139 152,151,0,0.000 6.544 13.671 chr2 54856437 54856437 C T exonic SPTBN1 synonymous SNV SPTBN1:NM_178313:exon13:c.C2127T:p.I709I,SPTBN1:NM_003128:exon14:c.C2166T:p.I722I Score=540;Name=lod=208 269 59 0.180 367 0 0.000 2.79461088587392475e-21 0.525 --- 294,244,50,0.170 324,324,0,0.000 17.168 13.872 chr2 54880809 54880809 G A exonic SPTBN1 nonsynonymous SNV SPTBN1:NM_178313:exon26:c.G5602A:p.D1868N,SPTBN1:NM_003128:exon27:c.G5641A:p.D1881N Score=467;Name=lod=105 0.04 6.71E-4 N 0.795713 NA 0.586 P 1.0 D 0.493014 NA 5.49 228 60 0.208 347 1 0.003 1.99906491671784446e-21 0.583 0.000 237,185,52,0.219 287,285,1,0.003 17.851 12.291 chr2 62065671 62065671 A G splicing FAM161A NM_001201543:exon5:c.1751+2T>C Score=403;Name=lod=58 57 17 0.230 81 0 0.000 1.17900656580237453e-06 0.529 --- 62,47,15,0.242 72,72,0,0.000 5.468 11.708 chr2 65301482 65301482 G T exonic CEP68 nonsynonymous SNV CEP68:NM_015147:exon4:c.G1951T:p.G651W 0.07 0.084717 N 0.88 T 0.239 P 0.510338 N 0.045087 N -2.3 124 28 0.184 171 0 0.000 1.60506999823907984e-10 0.536 --- 118,98,20,0.169 135,135,0,0.000 7.031 12.544 chr2 67630927 67630927 T C exonic ETAA1 synonymous SNV ETAA1:NM_019002:exon5:c.T1113C:p.I371I 139 24 0.147 194 0 0.000 2.50231666894953073e-09 0.458 --- 144,121,22,0.154 163,162,0,0.000 7.640 12.792 chr2 68361854 68361854 G A exonic WDR92 synonymous SNV WDR92:NM_001256476:exon7:c.C846T:p.G282G,WDR92:NM_138458:exon7:c.C846T:p.G282G 143 21 0.128 207 0 0.000 1.67690012183184926e-08 0.429 --- 131,114,17,0.130 160,159,0,0.000 6.131 9.269 chr2 68740730 68740730 C T exonic APLF synonymous SNV APLF:NM_173545:exon5:c.C540T:p.A180A 101 16 0.137 134 0 0.000 2.76516304410633008e-06 0.562 --- 91,76,14,0.156 105,105,0,0.000 4.956 9.758 chr2 69784106 69784106 T A exonic AAK1 synonymous SNV AAK1:NM_014911:exon3:c.A168T:p.G56G Score=677;Name=lod=751 40 16 0.286 75 0 0.000 3.00883934624017665e-07 0.438 --- 49,35,14,0.286 62,62,0,0.000 5.493 60 chr2 71061023 71061023 C T exonic CD207 nonsynonymous SNV CD207:NM_015717:exon3:c.G319A:p.V107I 0.36 98 13 0.117 182 0 0.000 2.08875441402525562e-06 0.462 --- 104,93,11,0.106 158,158,0,0.000 4.559 8.821 chr2 71337171 71337171 G A exonic MCEE nonsynonymous SNV MCEE:NM_032601:exon3:c.C460T:p.H154Y Score=548;Name=lod=225 0 0.999823 C 1.0 D 0.985 D 1.0 D 0.999973 D 5.49 94 22 0.190 85 0 0.000 2.97898516883054702e-06 0.318 --- 92,72,19,0.209 65,65,0,0.000 4.669 15.109 chr2 73675748 73675748 G A exonic ALMS1 synonymous SNV ALMS1:NM_015120:exon8:c.G2091A:p.V697V rs200535382 167 31 0.157 201 0 0.000 1.02153773789908993e-10 0.323 --- 165,140,25,0.152 177,177,0,0.000 8.355 15.109 chr2 73868443 73868443 G A exonic NAT8 nonsynonymous SNV NAT8:NM_003960:exon2:c.C313T:p.R105C Score=0.945868;Name=chr2:73904310 0.42 0.065459 N 0.95 T 0.0010 B 0.00899 N 2.06E-4 N -6.8 206 75 0.267 283 0 0.000 6.55908622683800791e-26 0.427 --- 247,177,70,0.283 244,244,0,0.000 23.219 60 chr2 74689730 74689730 T C exonic MOGS nonsynonymous SNV MOGS:NM_006302:exon4:c.A1186G:p.S396G,MOGS:NM_001146158:exon5:c.A868G:p.S290G Score=520;Name=lod=173 0 0.996779 C 1.0 D 0.988 D 0.999998 D 0.999974 D 4.27 234 36 0.133 231 0 0.000 7.62677533359991356e-11 0.444 --- 236,206,30,0.127 207,207,0,0.000 8.400 13.264 chr2 74749738 74749738 G A exonic DQX1 synonymous SNV DQX1:NM_133637:exon8:c.C1464T:p.D488D Score=544;Name=lod=216 198 48 0.195 208 0 0.000 2.14834733722129067e-14 0.604 --- 221,176,45,0.204 175,175,0,0.000 12.194 60 chr2 74761292 74761292 G A exonic LOXL3 nonsynonymous SNV LOXL3:NM_032603:exon12:c.C2011T:p.R671W Score=631;Name=lod=490 0.000154 0 0.985312 C 1.0 D 1.0 D 1.0 D 0.952561 D 3.49 133 36 0.213 216 0 0.000 1.30295552350641422e-14 0.472 --- 145,111,34,0.234 174,174,0,0.000 12.677 15.955 chr2 84774503 84774503 G A exonic DNAH6 nonsynonymous SNV DNAH6:NM_001370:exon6:c.G1042A:p.A348T 0.7 115 29 0.201 173 0 0.000 2.09480995668255381e-11 0.586 --- 124,99,24,0.195 149,148,0,0.000 8.821 11.725 chr2 84934053 84934053 G T exonic DNAH6 stopgain DNAH6:NM_001370:exon53:c.G8761T:p.E2921X Score=374;Name=lod=44 0.04 121 18 0.129 164 0 0.000 4.29023158119318209e-07 0.556 --- 119,103,15,0.127 131,131,0,0.000 5.081 7.602 chr2 85097427 85097427 C T exonic TRABD2A synonymous SNV TRABD2A:NM_001080824:exon2:c.G591A:p.E197E,TRABD2A:NM_001277053:exon2:c.G591A:p.E197E Score=558;Name=lod=248 146 20 0.120 219 0 0.000 2.4729156605278989e-08 0.650 --- 133,114,19,0.143 178,178,0,0.000 7.352 11.325 chr2 85536331 85536331 C A exonic TCF7L1 nonsynonymous SNV TCF7L1:NM_031283:exon12:c.C1513A:p.L505I Score=539;Name=lod=207 0.01 0.999159 C 0.98 D 0.447 P 0.999999 D 0.995985 D 4.99 271 43 0.137 304 0 0.000 6.07381714062501837e-14 0.581 --- 266,229,37,0.139 259,259,0,0.000 11.373 14.955 chr2 85552057 85552057 T C exonic TGOLN2 nonsynonymous SNV TGOLN2:NM_001206841:exon3:c.A1289G:p.Y430C,TGOLN2:NM_006464:exon3:c.A1289G:p.Y430C,TGOLN2:NM_001206844:exon4:c.A1115G:p.Y372C Score=599;Name=lod=363 0 102 24 0.190 109 0 0.000 1.81093499250232163e-07 0.583 --- 103,83,19,0.186 86,85,0,0.000 5.154 8.301 chr2 86479161 86479161 G A exonic REEP1 synonymous SNV REEP1:NM_001164731:exon4:c.C255T:p.D85D,REEP1:NM_001164730:exon5:c.C357T:p.D119D,REEP1:NM_022912:exon5:c.C336T:p.D112D Score=541;Name=lod=210 73 11 0.131 80 0 0.000 0.000707793096915332373 0.273 --- 65,55,10,0.154 67,66,0,0.000 3.207 7.141 chr2 86997170 86997170 G A exonic RMND5A synonymous SNV RMND5A:NM_022780:exon7:c.G879A:p.L293L Score=502;Name=lod=146 75 12 0.138 93 0 0.000 0.000106827686129103909 0.833 --- 69,58,11,0.159 72,72,0,0.000 3.606 5.719 chr2 95843249 95843249 G A exonic ZNF2 nonsynonymous SNV ZNF2:NM_021088:exon3:c.G55A:p.V19I Score=295;Name=lod=21 0.02 0.999624 C 1.0 D 0.347 P 0.999682 D 0.028764 N 4.16 103 18 0.149 114 0 0.000 4.38298938065064041e-06 0.722 --- 99,84,15,0.152 95,94,0,0.000 4.435 8.709 chr2 95944815 95944815 C T exonic PROM2 synonymous SNV PROM2:NM_001165977:exon10:c.C1197T:p.R399R,PROM2:NM_001165978:exon10:c.C1197T:p.R399R,PROM2:NM_144707:exon10:c.C1197T:p.R399R Score=317;Name=lod=26 143 19 0.117 182 0 0.000 3.38139174055115465e-07 0.737 --- 142,124,18,0.127 151,151,0,0.000 5.919 5.933 chr2 96146070 96146070 C T exonic TRIM43B nonsynonymous SNV TRIM43B:NM_001164464:exon4:c.G721A:p.E241K Score=0.99304;Name=chr2:96245544 0.01 119 24 0.168 153 2 0.013 1.23126599003603009e-06 0.625 0.500 112,92,20,0.179 117,116,1,0.009 5.498 60 chr2 96798340 96798340 G A exonic ASTL synonymous SNV ASTL:NM_001002036:exon6:c.C576T:p.H192H Score=531;Name=lod=191 0.000077 161 21 0.115 162 0 0.000 9.42738140406726224e-07 0.714 --- 146,128,17,0.117 136,136,0,0.000 4.975 7.814 chr2 96874115 96874115 G A exonic STARD7 synonymous SNV STARD7:NM_020151:exon1:c.C58T:p.L20L Score=422;Name=lod=69 141 21 0.130 153 0 0.000 5.6123250087560143e-07 0.381 --- 138,119,19,0.138 129,129,0,0.000 5.627 5.017 chr2 97007512 97007512 T C exonic NCAPH nonsynonymous SNV NCAPH:NM_015341:exon2:c.T152C:p.V51A Score=325;Name=lod=28 0.05 0.97049 C 0.81 T 0.871 D 0.993891 N 0.029041 N 3.41 196 22 0.101 245 0 0.000 3.52581084683724672e-08 0.545 --- 189,174,15,0.079 210,208,0,0.000 4.966 12.625 chr2 97357026 97357026 G A exonic FER1L5 nonsynonymous SNV FER1L5:NM_001113382:exon27:c.G2822A:p.R941H Score=383;Name=lod=48 0 194 37 0.160 229 0 0.000 3.05866638908126595e-12 0.622 --- 196,163,33,0.168 190,190,0,0.000 10.220 14.135 chr2 97464904 97464904 G A exonic CNNM4 nonsynonymous SNV CNNM4:NM_020184:exon4:c.G1792A:p.A598T 0.000231 0.0009 rs201310811 0.26 0.021182 N 0.48 T 0.0 B 0.22245 N 0.001059 N -5.56 157 23 0.128 157 0 0.000 2.79528635932528103e-07 0.522 --- 145,126,18,0.125 131,131,0,0.000 5.227 7.978 chr2 99695226 99695226 C T exonic TSGA10 nonsynonymous SNV TSGA10:NM_182911:exon11:c.G778A:p.G260S,TSGA10:NM_025244:exon12:c.G778A:p.G260S Score=650;Name=lod=585 0.1 0.998814 C 0.91 T 0.078 B 0.997315 N 0.02535 N 4.68 106 16 0.131 127 0 0.000 6.4541680642812995e-06 0.500 --- 101,87,14,0.139 106,106,0,0.000 4.578 10.708 chr2 100027225 100027225 T C exonic REV1 synonymous SNV REV1:NM_001037872:exon14:c.A2274G:p.V758V,REV1:NM_016316:exon14:c.A2277G:p.V759V 108 14 0.115 137 0 0.000 1.74403923273274749e-05 0.429 --- 103,92,11,0.107 101,101,0,0.000 3.131 11.205 chr2 100623149 100623149 T C exonic AFF3 nonsynonymous SNV AFF3:NM_001025108:exon6:c.A893G:p.E298G,AFF3:NM_002285:exon6:c.A818G:p.E273G Score=366;Name=lod=41 0.12 0.997601 C 0.77 T 0.945 D 0.999165 N 0.323455 N 5.11 199 23 0.104 294 0 0.000 1.89983670787855257e-09 0.565 --- 184,166,18,0.098 230,230,0,0.000 6.550 9.636 chr2 100623359 100623359 G A exonic AFF3 nonsynonymous SNV AFF3:NM_001025108:exon6:c.C683T:p.A228V,AFF3:NM_002285:exon6:c.C608T:p.A203V 0.02 0.846549 N 0.83 T 0.056 B 0.758594 N 0.269545 N 0.878 194 43 0.181 286 1 0.003 4.11787330548703739e-15 0.488 1.000 203,167,36,0.177 251,250,1,0.004 12.045 15.477 chr2 101014494 101014494 C T exonic CHST10 synonymous SNV CHST10:NM_004854:exon5:c.G303A:p.S101S 0.000077 98 32 0.246 159 0 0.000 7.27139085112053004e-13 0.500 --- 104,81,22,0.214 124,124,0,0.000 8.143 60 chr2 102480420 102480420 G T exonic MAP4K4 nonsynonymous SNV MAP4K4:NM_001242560:exon16:c.G1749T:p.E583D Score=765;Name=lod=1721 0.06 163 24 0.128 182 0 0.000 5.67169425539729185e-08 0.583 --- 141,123,18,0.128 137,137,0,0.000 5.357 10.26 chr2 102481435 102481435 G A exonic MAP4K4 nonsynonymous SNV MAP4K4:NM_004834:exon16:c.G1655A:p.R552Q,MAP4K4:NM_001242559:exon17:c.G1910A:p.R637Q,MAP4K4:NM_001242560:exon17:c.G1886A:p.R629Q,MAP4K4:NM_145686:exon17:c.G1817A:p.R606Q,MAP4K4:NM_145687:exon17:c.G1817A:p.R606Q Score=527;Name=lod=185 0.01 83 15 0.153 104 0 0.000 1.06990270767352097e-05 0.667 --- 74,63,11,0.149 77,77,0,0.000 3.584 10.885 chr2 107423282 107423282 G A exonic ST6GAL2 nonsynonymous SNV ST6GAL2:NM_001142351:exon6:c.C1442T:p.A481V,ST6GAL2:NM_032528:exon6:c.C1442T:p.A481V Score=436;Name=lod=79 0 0.999681 C 0.99 D 0.113 B 1.0 D 0.999951 D 5.37 173 34 0.164 212 0 0.000 8.69259904243158666e-12 0.529 --- 168,143,25,0.149 174,174,0,0.000 8.144 14.699 chr2 109086488 109086488 A G exonic GCC2 nonsynonymous SNV GCC2:NM_181453:exon6:c.A703G:p.N235D Score=399;Name=lod=56 0.13 0.99827 C 0.780544 NA 0.4352 NA 0.975149 N 0.00245 N 4.99 68 22 0.244 111 0 0.000 4.21785948383955748e-09 0.500 --- 79,60,19,0.241 94,94,0,0.000 7.046 12.479 chr2 111551686 111551686 G A exonic ACOXL nonsynonymous SNV ACOXL:NM_001142807:exon5:c.G280A:p.E94K Score=387;Name=lod=50 0.000082 0 0.999272 C 1.0 D 0.999 D 0.999873 D 0.342556 N 4.76 95 17 0.152 147 0 0.000 3.07831252062752247e-07 0.588 --- 93,79,14,0.151 120,120,0,0.000 5.296 13.459 chr2 112615962 112615962 C A exonic ANAPC1 nonsynonymous SNV ANAPC1:NM_022662:exon11:c.G1279T:p.A427S Score=510;Name=lod=158 Score=0.975868;Name=chr2:87096602 0.05 0.998214 C 1.0 D 0.129 B 0.507016 U 0.897264 D 4.82 94 18 0.161 118 0 0.000 1.1079014077311516e-06 0.222 --- 92,77,15,0.163 97,97,0,0.000 4.966 8.656 chr2 112732912 112732912 A G exonic MERTK nonsynonymous SNV MERTK:NM_006343:exon7:c.A1007G:p.N336S Score=369;Name=lod=42 0.38 0.998924 C 0.84 T 0.314 P 0.998526 U 0.965237 D 4.22 104 15 0.126 143 0 0.000 4.32762294254753161e-06 0.667 --- 96,85,11,0.115 115,114,1,0.009 2.844 10.958 chr2 113958742 113958742 G A exonic PSD4 nonsynonymous SNV PSD4:NM_012455:exon17:c.G2921A:p.R974H Score=470;Name=lod=108 0.0005 rs191252430 0 0.99943 C 0.779932 NA 0.439044 NA 0.999999 D 1.0E-6 N 4.94 151 44 0.226 213 0 0.000 4.50291102905023736e-16 0.682 --- 166,128,38,0.229 175,175,0,0.000 12.946 11.221 chr2 118582256 118582256 C T exonic DDX18 nonsynonymous SNV DDX18:NM_006773:exon8:c.C1178T:p.A393V Score=569;Name=lod=275 0.07 0.978424 C 0.88 T 0.0 B 0.2687 N 0.004502 N 2.39 129 19 0.128 195 0 0.000 5.7649162262414567e-08 0.474 --- 119,102,17,0.143 165,165,0,0.000 6.731 8.867 chr2 119600694 119600694 C T exonic EN1 synonymous SNV EN1:NM_001426:exon2:c.G999A:p.R333R Score=785;Name=lod=2066 255 42 0.141 323 0 0.000 7.41690873192392401e-15 0.333 --- 240,205,35,0.146 249,249,0,0.000 11.409 11.765 chr2 120005382 120005382 G A exonic STEAP3 nonsynonymous SNV STEAP3:NM_001008410:exon3:c.G620A:p.R207H,STEAP3:NM_018234:exon4:c.G620A:p.R207H,STEAP3:NM_182915:exon4:c.G650A:p.R217H Score=489;Name=lod=129 0.03 0.946793 N 0.702057 NA 0.0010 B 0.990154 N 0.250194 N 1.31 225 65 0.224 329 0 0.000 5.41051788362046663e-24 0.462 --- 250,194,56,0.224 274,274,0,0.000 19.573 60 chr2 120005432 120005432 G A exonic STEAP3 nonsynonymous SNV STEAP3:NM_001008410:exon3:c.G670A:p.V224I,STEAP3:NM_018234:exon4:c.G670A:p.V224I,STEAP3:NM_182915:exon4:c.G700A:p.V234I 0.000308 rs139584756 0.5 0.126174 N 0.66778 NA 0.0 B 0.639454 N 0.003717 N -4.1 219 61 0.218 342 0 0.000 1.28365120798484468e-23 0.361 --- 247,191,56,0.227 284,284,0,0.000 20.245 60 chr2 122125264 122125264 T G exonic CLASP1 synonymous SNV CLASP1:NM_001142274:exon33:c.A3585C:p.R1195R,CLASP1:NM_001207051:exon33:c.A3603C:p.R1201R,CLASP1:NM_001142273:exon34:c.A3609C:p.R1203R,CLASP1:NM_015282:exon34:c.A3786C:p.R1262R 184 25 0.120 257 0 0.000 8.49858425277871128e-10 0.680 --- 185,161,24,0.130 223,223,0,0.000 8.621 13.074 chr2 128050417 128050417 G A exonic ERCC3 synonymous SNV ERCC3:NM_000122:exon3:c.C240T:p.P80P 39 13 0.250 67 0 0.000 8.13095659689788383e-06 0.231 --- 49,36,13,0.265 58,58,0,0.000 4.839 9.664 chr2 128065296 128065296 G A exonic MAP3K2 synonymous SNV MAP3K2:NM_006609:exon16:c.C1719T:p.I573I Score=683;Name=lod=795 0.000079 103 26 0.202 120 0 0.000 1.08952071118799487e-08 0.462 --- 98,79,19,0.194 96,96,0,0.000 5.833 11.67 chr2 128178957 128178957 C T exonic PROC nonsynonymous SNV PROC:NM_000312:exon3:c.C169T:p.R57W Score=475;Name=lod=114 0 0.895053 N 1.0 D 1.0 D 0.999146 N 0.999855 D 1.82 179 43 0.194 215 0 0.000 2.97935405862587218e-14 0.535 --- 172,138,34,0.198 170,170,0,0.000 10.715 60 chr2 128186455 128186455 G T exonic PROC nonsynonymous SNV PROC:NM_000312:exon9:c.G1319T:p.R440L Score=489;Name=lod=130 0.02 0.96816 C 0.92 T 0.741 P 0.8766 N 0.940559 D 1.64 209 60 0.223 281 0 0.000 5.23695257960058552e-21 0.417 --- 232,182,50,0.216 225,225,0,0.000 15.918 9.629 chr2 128338363 128338363 C T exonic MYO7B nonsynonymous SNV MYO7B:NM_001080527:exon10:c.C1046T:p.T349M 0.000163 0.06 83 21 0.202 154 0 0.000 1.36749520910654785e-09 0.571 --- 91,73,18,0.198 128,128,0,0.000 7.336 13.455 chr2 128350374 128350374 C T exonic MYO7B synonymous SNV MYO7B:NM_001080527:exon17:c.C1998T:p.F666F Score=432;Name=lod=76 0.000081 159 41 0.205 209 0 0.000 1.76954882801990444e-14 0.585 --- 177,141,36,0.203 187,187,0,0.000 12.156 60 chr2 128631430 128631430 G A exonic AMMECR1L stopgain AMMECR1L:NM_001199140:exon3:c.C379T:p.R127X,AMMECR1L:NM_031445:exon3:c.C379T:p.R127X Score=635;Name=lod=509 1 0.999421 C 0.903822 NA 0.735464 NA 0.999996 D 1.0 A 4.93 237 59 0.199 293 0 0.000 1.44600548599325924e-19 0.458 --- 254,203,51,0.201 253,253,0,0.000 16.264 8.114 chr2 128631717 128631717 G A exonic AMMECR1L nonsynonymous SNV AMMECR1L:NM_001199140:exon3:c.C92T:p.T31M,AMMECR1L:NM_031445:exon3:c.C92T:p.T31M Score=769;Name=lod=1786 0.05 0.999465 C 0.95 T 0.54 P 0.999814 D 0.337998 N 4.99 159 49 0.236 232 0 0.000 3.88702403024666552e-18 0.388 --- 169,129,40,0.237 192,192,0,0.000 14.392 13.234 chr2 130953851 130953851 C T exonic TUBA3E nonsynonymous SNV TUBA3E:NM_207312:exon2:c.G97A:p.D33N Score=653;Name=lod=602 Score=0.968148;Name=chr2:132190777 0.02 0.981337 C 0.99 D 0.0 B 0.999903 U 0.004075 N 2.21 285 60 0.174 391 0 0.000 9.15591263815797487e-22 0.600 --- 262,212,50,0.191 302,301,0,0.000 17.809 60 chr2 131796452 131796452 C T exonic ARHGEF4 synonymous SNV ARHGEF4:NM_015320:exon6:c.C594T:p.C198C,ARHGEF4:NM_032995:exon6:c.C594T:p.C198C Score=505;Name=lod=150 0.000077 0.0005 rs146135621 141 34 0.194 216 0 0.000 1.90685992012980569e-13 0.735 --- 148,115,33,0.223 167,167,0,0.000 11.748 13.012 chr2 135102631 135102631 T C exonic MGAT5 nonsynonymous SNV MGAT5:NM_002410:exon8:c.T1108C:p.Y370H Score=634;Name=lod=502 0 0.996874 C 0.93 T 0.969 D 1.0 D 0.98635 D 4.83 123 36 0.226 159 0 0.000 3.11080906981398667e-12 0.306 --- 133,106,27,0.203 129,129,0,0.000 8.433 15.955 chr2 135966452 135966452 C A exonic ZRANB3 synonymous SNV ZRANB3:NM_032143:exon18:c.G2592T:p.R864R 84 11 0.116 97 0 0.000 0.00031925743103968149 0.727 --- 79,68,11,0.139 77,77,0,0.000 3.170 7.469 chr2 136467103 136467103 A G exonic R3HDM1 nonsynonymous SNV R3HDM1:NM_015361:exon21:c.A2455G:p.T819A Score=604;Name=lod=381 1 0.148242 N 0.0 T 0.0 B 0.999277 N 0.004712 N -0.735 67 17 0.202 84 0 0.000 6.20710318499145461e-06 0.353 --- 69,56,13,0.188 71,70,0,0.000 4.226 14.184 chr2 136481689 136481689 C T exonic R3HDM1 nonsynonymous SNV R3HDM1:NM_015361:exon26:c.C3127T:p.R1043C Score=501;Name=lod=145 0 0.940301 N 0.99 D 0.416 P 0.989414 N 0.011907 N 2.97 131 37 0.220 207 0 0.000 1.07882331679412281e-14 0.459 --- 140,108,32,0.229 174,173,0,0.000 12.138 11.567 chr2 137814731 137814731 C T exonic THSD7B unknown UNKNOWN Score=343;Name=lod=33 0.02 142 21 0.129 184 0 0.000 6.20314682492432952e-08 0.286 --- 136,119,17,0.125 152,152,0,0.000 5.783 12.287 chr2 141055382 141055382 T A exonic LRP1B nonsynonymous SNV LRP1B:NM_018557:exon84:c.A12962T:p.Q4321L Score=500;Name=lod=143 0.13 0.998535 C 0.69 T 0.021 B 0.999952 D 0.222263 N 5.64 109 13 0.107 169 0 0.000 8.36599388522694553e-06 0.462 --- 103,90,13,0.126 138,138,0,0.000 4.999 3.49 chr2 145147134 145147134 C T exonic ZEB2 nonsynonymous SNV ZEB2:NM_001171653:exon9:c.G3457A:p.E1153K,ZEB2:NM_014795:exon10:c.G3529A:p.E1177K Score=855;Name=lod=3990 Score=0.952285;Name=chr4:16360880 0.04 0.999101 C 0.93 T 0.0030 B 0.999999 D 0.172982 N 5.45 208 42 0.168 316 0 0.000 1.53636526998193338e-16 0.714 --- 207,172,33,0.161 263,263,0,0.000 12.511 60 chr2 152139415 152139415 C T exonic NMI synonymous SNV NMI:NM_004688:exon2:c.G48A:p.S16S 0.000077 ID=COSM291286;OCCURENCE=1(large_intestine) rs148602363 37 6 0.140 60 0 0.000 0.00426373060737582283 0.500 --- 38,29,6,0.171 49,48,0,0.000 2.366 3.669 chr2 152980300 152980300 A G exonic STAM2 synonymous SNV STAM2:NM_005843:exon13:c.T1329C:p.P443P Score=422;Name=lod=69 96 28 0.226 112 0 0.000 3.02683103586054345e-09 0.643 --- 100,77,23,0.230 96,96,0,0.000 7.202 15.955 chr2 159477543 159477543 G A exonic PKP4 nonsynonymous SNV PKP4:NM_001005476:exon5:c.G322A:p.A108T,PKP4:NM_003628:exon5:c.G322A:p.A108T 0.26 4.44E-4 N 0.5 T 0.0 B 0.656148 N 9.0E-4 N -10.6 104 20 0.161 122 0 0.000 8.35747541490268388e-07 0.750 --- 99,84,15,0.152 103,103,0,0.000 4.899 13.972 chr2 163055295 163055295 G A exonic FAP synonymous SNV FAP:NM_004460:exon16:c.C1374T:p.Y458Y 0.003383 0.0041 rs62001030 102 12 0.105 142 0 0.000 4.33829333638413924e-05 0.417 --- 91,83,8,0.088 114,114,0,0.000 2.899 6.507 chr2 164467812 164467812 T C exonic FIGN nonsynonymous SNV FIGN:NM_018086:exon3:c.A530G:p.H177R Score=589;Name=lod=330 0.25 0.998645 C 0.94 T 0.999 D 1.0 D 0.781144 NA 5.4 177 38 0.177 256 0 0.000 1.63436590991756053e-14 0.395 --- 192,159,33,0.172 222,222,0,0.000 11.711 13.452 chr2 167168060 167168060 G A exonic SCN9A synonymous SNV SCN9A:NM_002977:exon2:c.C207T:p.G69G Score=540;Name=lod=209 102 17 0.143 156 0 0.000 3.26466862982865899e-07 0.765 --- 95,81,14,0.147 117,115,0,0.000 5.068 6.263 chr2 168102253 168102253 A G exonic XIRP2 nonsynonymous SNV XIRP2:NM_001199144:exon7:c.A3685G:p.T1229A,XIRP2:NM_152381:exon9:c.A4351G:p.T1451A Score=603;Name=lod=375 0.03 0.998613 C 0.870718 NA 0.65628 NA 0.999994 D 0.733317 D 5.2 138 23 0.143 205 0 0.000 2.43672834942336847e-09 0.522 --- 143,121,22,0.154 188,188,0,0.000 8.449 14.557 chr2 169757894 169757894 A T exonic G6PC2 nonsynonymous SNV G6PC2:NM_001081686:exon1:c.A53T:p.D18V,G6PC2:NM_021176:exon1:c.A53T:p.D18V Score=482;Name=lod=121 0.01 0.998528 C 0.93 T 0.992 D 0.995665 N 0.270422 N 3.97 59 7 0.106 59 0 0.000 0.0140447703616500614 0.571 --- 55,49,6,0.109 52,52,0,0.000 1.564 6.885 chr2 169788931 169788931 G A exonic ABCB11 stopgain ABCB11:NM_003742:exon24:c.C3169T:p.R1057X Score=558;Name=lod=246 rs72549397 1 97 25 0.205 154 0 0.000 2.9878000714245118e-10 0.560 --- 106,86,20,0.189 132,131,0,0.000 7.462 11.269 chr2 169853213 169853213 C T exonic ABCB11 nonsynonymous SNV ABCB11:NM_003742:exon6:c.G409A:p.E137K Score=401;Name=lod=57 0.06 64 13 0.169 87 0 0.000 3.00290033716724831e-05 0.385 --- 59,51,8,0.136 69,69,0,0.000 2.809 12.236 chr2 170850922 170850922 G A exonic UBR3 nonsynonymous SNV UBR3:NM_172070:exon26:c.G3874A:p.V1292I Score=624;Name=lod=460 0.000077 0.46 0.998873 C 0.903784 NA 0.735292 NA 0.999556 D 0.999987 D 4.42 88 29 0.248 165 0 0.000 8.33132472832589942e-13 0.483 --- 95,71,24,0.253 130,130,0,0.000 9.816 14.574 chr2 173885423 173885423 C T exonic RAPGEF4 stopgain RAPGEF4:NM_001100397:exon20:c.C1801T:p.R601X,RAPGEF4:NM_007023:exon23:c.C2233T:p.R745X Score=700;Name=lod=934 ID=COSM1401318;OCCURENCE=1(large_intestine) 1 0.065309 N 0.829203 NA 0.581835 NA 1.0 D 1.0 A -1.15 100 14 0.123 110 0 0.000 8.18096028138335638e-05 0.357 --- 80,70,10,0.125 85,85,0,0.000 3.278 10.18 chr2 174081978 174081978 G A exonic ZAK synonymous SNV ZAK:NM_016653:exon11:c.G987A:p.P329P,ZAK:NM_133646:exon11:c.G987A:p.P329P Score=518;Name=lod=170 158 37 0.190 234 0 0.000 2.74762242214515216e-14 0.541 --- 170,137,33,0.194 194,194,0,0.000 11.706 6.634 chr2 178096001 178096001 C T exonic NFE2L2 nonsynonymous SNV NFE2L2:NM_001145412:exon5:c.G1282A:p.D428N,NFE2L2:NM_001145413:exon5:c.G1261A:p.D421N,NFE2L2:NM_006164:exon5:c.G1330A:p.D444N Score=493;Name=lod=135 0 0.999302 C 0.952485 NA 0.969 D 1.0 D 0.998129 D 5.69 209 37 0.150 233 0 0.000 5.24741304293182857e-12 0.432 --- 212,180,31,0.147 205,205,0,0.000 9.508 60 chr2 178257636 178257636 T C exonic AGPS nonsynonymous SNV AGPS:NM_003659:exon1:c.T119C:p.V40A Score=521;Name=lod=174 0.15 0.995898 C 0.81 T 0.012 B 0.999723 D 0.023416 N 4.01 192 36 0.158 226 0 0.000 6.54065158015269185e-12 0.556 --- 219,186,32,0.147 213,211,0,0.000 9.811 12.992 chr2 179315022 179315022 A G exonic PRKRA nonsynonymous SNV PRKRA:NM_001139517:exon1:c.T149C:p.I50T,PRKRA:NM_001139518:exon2:c.T107C:p.I36T,PRKRA:NM_003690:exon2:c.T182C:p.I61T Score=662;Name=lod=651 0.04 0.976667 C 0.7 T 0.144 B 0.972061 N 0.692889 D 3.09 236 40 0.145 207 0 0.000 5.91606890788722023e-11 0.650 --- 226,192,34,0.150 172,172,0,0.000 8.558 60 chr2 179404899 179404899 A G exonic TTN nonsynonymous SNV TTN:NM_003319:exon179:c.T70799C:p.L23600P,TTN:NM_133432:exon180:c.T71174C:p.L23725P,TTN:NM_133437:exon180:c.T71375C:p.L23792P,TTN:NM_133378:exon300:c.T90290C:p.L30097P,TTN:NM_001256850:exon301:c.T93071C:p.L31024P,TTN:NM_001267550:exon351:c.T97994C:p.L32665P Score=493;Name=lod=135 218 32 0.128 254 0 0.000 6.20298393033511089e-11 0.406 --- 206,179,26,0.127 220,217,0,0.000 8.530 60 chr2 179406044 179406044 C T exonic TTN nonsynonymous SNV TTN:NM_003319:exon178:c.G70565A:p.R23522H,TTN:NM_133432:exon179:c.G70940A:p.R23647H,TTN:NM_133437:exon179:c.G71141A:p.R23714H,TTN:NM_133378:exon299:c.G90056A:p.R30019H,TTN:NM_001256850:exon300:c.G92837A:p.R30946H,TTN:NM_001267550:exon350:c.G97760A:p.R32587H Score=486;Name=lod=126 0.003714 0.0009 rs55704830 166 31 0.157 214 0 0.000 3.31745236041601103e-11 0.452 --- 157,134,23,0.146 176,176,0,0.000 7.909 13.036 chr2 179409087 179409087 A G exonic TTN nonsynonymous SNV TTN:NM_003319:exon173:c.T68674C:p.Y22892H,TTN:NM_133432:exon174:c.T69049C:p.Y23017H,TTN:NM_133437:exon174:c.T69250C:p.Y23084H,TTN:NM_133378:exon294:c.T88165C:p.Y29389H,TTN:NM_001256850:exon295:c.T90946C:p.Y30316H,TTN:NM_001267550:exon345:c.T95869C:p.Y31957H Score=510;Name=lod=158 160 28 0.149 208 0 0.000 2.79415566160609715e-10 0.429 --- 160,134,25,0.157 177,176,0,0.000 8.558 60 chr2 179440107 179440107 G A exonic TTN synonymous SNV TTN:NM_003319:exon154:c.C43557T:p.T14519T,TTN:NM_133432:exon155:c.C43932T:p.T14644T,TTN:NM_133437:exon155:c.C44133T:p.T14711T,TTN:NM_133378:exon275:c.C63048T:p.T21016T,TTN:NM_001256850:exon276:c.C65829T:p.T21943T,TTN:NM_001267550:exon326:c.C70752T:p.T23584T 193 35 0.154 280 0 0.000 1.40540720426891714e-13 0.429 --- 197,166,31,0.157 240,239,0,0.000 11.304 60 chr2 179472552 179472552 C T exonic TTN synonymous SNV TTN:NM_003319:exon104:c.G25767A:p.P8589P,TTN:NM_133432:exon105:c.G26142A:p.P8714P,TTN:NM_133437:exon105:c.G26343A:p.P8781P,TTN:NM_133378:exon225:c.G45258A:p.P15086P,TTN:NM_001256850:exon226:c.G48039A:p.P16013P,TTN:NM_001267550:exon276:c.G52962A:p.P17654P ID=COSM1402793,COSM1402795,COSM1402796,COSM1402794,COSM1402792;OCCURENCE=1(large_intestine) 165 32 0.162 261 0 0.000 3.9795096209676249e-13 0.562 --- 168,140,28,0.167 229,229,0,0.000 11.069 12.638 chr2 179495010 179495010 G A exonic TTN stopgain TTN:NM_003319:exon67:c.C17044T:p.Q5682X,TTN:NM_133432:exon68:c.C17419T:p.Q5807X,TTN:NM_133437:exon68:c.C17620T:p.Q5874X,TTN:NM_133378:exon188:c.C36535T:p.Q12179X,TTN:NM_001256850:exon189:c.C39316T:p.Q13106X,TTN:NM_001267550:exon239:c.C44239T:p.Q14747X Score=590;Name=lod=334 146 22 0.131 172 0 0.000 8.73699251479278414e-08 0.636 --- 126,110,16,0.127 147,146,0,0.000 5.584 11.779 chr2 179569665 179569665 C G exonic TTN nonsynonymous SNV TTN:NM_133378:exon101:c.G25901C:p.R8634T,TTN:NM_001256850:exon102:c.G28682C:p.R9561T,TTN:NM_001267550:exon104:c.G29633C:p.R9878T 100 17 0.145 154 0 0.000 3.09608956501381647e-07 0.412 --- 96,80,15,0.158 128,128,0,0.000 5.856 4.583 chr2 179580429 179580429 C T exonic TTN nonsynonymous SNV TTN:NM_133378:exon86:c.G21980A:p.C7327Y,TTN:NM_001256850:exon87:c.G24761A:p.C8254Y,TTN:NM_001267550:exon89:c.G25712A:p.C8571Y Score=558;Name=lod=246 158 22 0.122 174 0 0.000 2.56003611191542166e-07 0.409 --- 158,141,17,0.108 148,146,0,0.000 4.927 11.081 chr2 179583456 179583456 G A exonic TTN synonymous SNV TTN:NM_133378:exon81:c.C20739T:p.G6913G,TTN:NM_001256850:exon82:c.C23520T:p.G7840G,TTN:NM_001267550:exon84:c.C24471T:p.G8157G Score=428;Name=lod=73 0.005552 0.0046 rs113391261 210 40 0.160 297 0 0.000 3.98351512737644305e-15 0.675 --- 213,177,36,0.169 249,248,0,0.000 12.825 15.477 chr2 179597176 179597176 A T exonic TTN nonsynonymous SNV TTN:NM_133378:exon53:c.T12880A:p.F4294I,TTN:NM_001256850:exon54:c.T15661A:p.F5221I,TTN:NM_001267550:exon56:c.T16612A:p.F5538I Score=539;Name=lod=206 218 35 0.138 274 0 0.000 1.8880077500572636e-12 0.657 --- 224,191,33,0.147 251,249,2,0.008 9.025 60 chr2 179640754 179640754 C A exonic TTN nonsynonymous SNV TTN:NM_003319:exon27:c.G5699T:p.R1900M,TTN:NM_133432:exon27:c.G5699T:p.R1900M,TTN:NM_133437:exon27:c.G5699T:p.R1900M,TTN:NM_001256850:exon28:c.G5837T:p.R1946M,TTN:NM_001267550:exon28:c.G5837T:p.R1946M,TTN:NM_133378:exon28:c.G5837T:p.R1946M,TTN:NM_133379:exon28:c.G5837T:p.R1946M Score=599;Name=lod=363 0.02 0.948004 N 0.9 T 0.473925 NA 0.845298 NA 0.012236 N 3.46 198 43 0.178 276 0 0.000 6.23040567979732449e-16 0.535 --- 208,174,34,0.163 239,238,1,0.004 10.661 60 chr2 179664243 179664243 G A exonic TTN synonymous SNV TTN:NM_001256850:exon6:c.C885T:p.H295H,TTN:NM_001267550:exon6:c.C885T:p.H295H,TTN:NM_003319:exon6:c.C885T:p.H295H,TTN:NM_133378:exon6:c.C885T:p.H295H,TTN:NM_133379:exon6:c.C885T:p.H295H,TTN:NM_133432:exon6:c.C885T:p.H295H,TTN:NM_133437:exon6:c.C885T:p.H295H ID=COSM51150;OCCURENCE=1(breast) 215 52 0.195 342 0 0.000 1.09971086854392638e-20 0.577 --- 221,176,44,0.200 266,265,0,0.000 16.237 8.529 chr2 180809951 180809951 G A exonic CWC22 stopgain CWC22:NM_020943:exon20:c.C2632T:p.R878X 1 87 20 0.187 150 0 0.000 7.86517782032782232e-09 0.550 --- 90,73,17,0.189 120,119,0,0.000 6.631 14.046 chr2 182543318 182543318 C T exonic NEUROD1 synonymous SNV NEUROD1:NM_002500:exon2:c.G270A:p.K90K Score=561;Name=lod=254 202 38 0.158 234 0 0.000 1.64779387066868667e-12 0.342 --- 206,171,34,0.166 217,217,0,0.000 11.327 9.895 chr2 183826949 183826949 C T exonic NCKAP1 nonsynonymous SNV NCKAP1:NM_013436:exon18:c.G1819A:p.A607T,NCKAP1:NM_205842:exon19:c.G1837A:p.A613T Score=691;Name=lod=855 0 0.998341 C 0.99 D 0.569 P 1.0 D 0.999982 D 4.89 80 15 0.158 139 0 0.000 6.60943234198323866e-07 0.533 --- 78,64,13,0.169 115,114,0,0.000 5.414 7.748 chr2 187370179 187370179 G A exonic ZC3H15 nonsynonymous SNV ZC3H15:NM_018471:exon7:c.G719A:p.R240H Score=670;Name=lod=707 0.03 0.999825 C 1.0 D 0.999 D 1.0 N 0.999993 D 5.82 144 18 0.111 182 0 0.000 7.65509519041441957e-07 0.722 --- 133,118,15,0.113 152,152,0,0.000 5.158 5.858 chr2 190532651 190532651 T C exonic ASNSD1 synonymous SNV ASNSD1:NM_019048:exon5:c.T1626C:p.G542G Score=601;Name=lod=369 145 19 0.116 159 0 0.000 2.27561721130822655e-06 0.316 --- 130,115,15,0.115 141,141,0,0.000 4.979 7.62 chr2 190738332 190738332 G A exonic PMS1 nonsynonymous SNV PMS1:NM_001128143:exon11:c.G2467A:p.A823T,PMS1:NM_001128144:exon11:c.G2098A:p.A700T,PMS1:NM_000534:exon12:c.G2584A:p.A862T Score=589;Name=lod=331 0.01 0.99963 C 0.98 D 0.205 P 0.999991 D 0.868303 D 5.27 64 11 0.147 82 0 0.000 0.000195861742218623657 0.455 --- 62,54,8,0.129 66,66,0,0.000 2.626 6.917 chr2 196571485 196571485 C T exonic SLC39A10 synonymous SNV SLC39A10:NM_001127257:exon4:c.C1362T:p.D454D,SLC39A10:NM_020342:exon4:c.C1362T:p.D454D Score=712;Name=lod=1044 0.0005 ID=COSM1014256;OCCURENCE=1(endometrium) rs200812627 91 15 0.142 126 0 0.000 4.4338131069917938e-06 0.133 --- 89,76,13,0.146 104,104,0,0.000 4.591 11.465 chr2 196737046 196737046 A T exonic DNAH7 synonymous SNV DNAH7:NM_018897:exon40:c.T6561A:p.I2187I Score=608;Name=lod=396 131 18 0.121 156 0 0.000 1.43744159222126295e-06 0.444 --- 120,102,17,0.143 122,122,0,0.000 5.480 14.247 chr2 197948166 197948166 C T exonic ANKRD44 nonsynonymous SNV ANKRD44:NM_001195144:exon14:c.G1384A:p.A462T Score=551;Name=lod=231 0.000077 rs139336667 0.07 0.999226 C 0.89 T 0.0030 B 1.0 D 0.52004 D 5.07 149 32 0.177 205 0 0.000 6.06656529964114329e-12 0.531 --- 147,119,28,0.190 150,150,0,0.000 9.175 11.588 chr2 198361984 198361984 T C exonic HSPD1 nonsynonymous SNV HSPD1:NM_002156:exon3:c.A307G:p.N103D,HSPD1:NM_199440:exon3:c.A307G:p.N103D Score=719;Name=lod=1119 0.08 0.996658 C 0.84 T 0.396 P 1.0 D 0.999973 D 4.23 85 16 0.158 98 0 0.000 1.63668194081881592e-05 0.625 --- 90,76,14,0.156 89,89,0,0.000 4.151 9.378 chr2 198948953 198948953 A G exonic PLCL1 nonsynonymous SNV PLCL1:NM_006226:exon2:c.A712G:p.T238A Score=467;Name=lod=105 0.1 0.99918 C 0.71 T 0.303 P 0.999971 D 0.578889 NA 4.55 106 13 0.109 133 0 0.000 4.03105272638281151e-05 0.538 --- 101,89,12,0.119 110,110,0,0.000 3.996 10.688 chr2 201523990 201523990 G A exonic AOX1 nonsynonymous SNV AOX1:NM_001159:exon28:c.G3274A:p.A1092T Score=333;Name=lod=30 0.6 0.999662 C 0.41 T 0.0020 B 0.999998 D 0.457305 NA 4.8 91 23 0.202 152 0 0.000 8.46100943654446281e-10 0.435 --- 94,77,17,0.181 115,115,0,0.000 6.278 12.042 chr2 202141572 202141572 T C exonic CASP8 nonsynonymous SNV CASP8:NM_033356:exon6:c.T638C:p.M213T,CASP8:NM_001080124:exon7:c.T638C:p.M213T,CASP8:NM_001080125:exon7:c.T860C:p.M287T,CASP8:NM_001228:exon8:c.T734C:p.M245T,CASP8:NM_033355:exon8:c.T683C:p.M228T Score=520;Name=lod=173 0 0.997892 C 1.0 D 0.999 D 0.999999 D 0.99895 D 5.25 76 13 0.146 115 0 0.000 1.22075607207264398e-05 0.462 --- 71,59,12,0.169 85,85,0,0.000 4.341 10.793 chr2 202149770 202149770 G A exonic CASP8 nonsynonymous SNV CASP8:NM_033356:exon7:c.G989A:p.C330Y,CASP8:NM_001080124:exon8:c.G989A:p.C330Y,CASP8:NM_001080125:exon8:c.G1211A:p.C404Y,CASP8:NM_001228:exon9:c.G1085A:p.C362Y,CASP8:NM_033355:exon9:c.G1034A:p.C345Y Score=358;Name=lod=38 0 0.999661 C 1.0 D 1.0 D 0.999995 D 0.999773 D 5.33 108 22 0.169 171 0 0.000 3.17438187445401572e-09 0.500 --- 116,97,19,0.164 133,133,0,0.000 6.674 12.075 chr2 202153457 202153457 C A exonic ALS2CR12 nonsynonymous SNV ALS2CR12:NM_001127391:exon15:c.G1190T:p.G397V,ALS2CR12:NM_139163:exon15:c.G1259T:p.G420V 0.03 0.153098 N 1.0 D 0.903 D 0.234615 N 0.026191 N -0.992 96 13 0.119 127 0 0.000 2.89360804325333421e-05 0.615 --- 87,77,10,0.115 101,101,0,0.000 3.474 7.445 chr2 202900347 202900347 C T exonic FZD7 nonsynonymous SNV FZD7:NM_003507:exon1:c.C977T:p.T326M Score=759;Name=lod=1626 0.03 0.998809 C 0.84 T 0.899 D 1.0 D 0.996054 D 5.19 136 37 0.214 165 0 0.000 2.3936136832066452e-12 0.595 --- 155,120,35,0.226 144,144,0,0.000 10.871 12.584 chr2 204305684 204305684 C T exonic RAPH1 synonymous SNV RAPH1:NM_213589:exon14:c.G2229A:p.P743P Score=366;Name=lod=41 0.000159 55 11 0.167 57 0 0.000 0.000816686155115189233 0.636 --- 60,48,12,0.200 55,55,0,0.000 3.526 4.985 chr2 207175072 207175072 G A exonic ZDBF2 synonymous SNV ZDBF2:NM_020923:exon5:c.G5820A:p.A1940A 0.0005 rs201220827 230 44 0.161 343 0 0.000 3.84440767632263311e-17 0.500 --- 235,196,38,0.162 261,261,0,0.000 13.112 60 chr2 207175441 207175441 T G exonic ZDBF2 nonsynonymous SNV ZDBF2:NM_020923:exon5:c.T6189G:p.S2063R 0.26 188 24 0.113 186 0 0.000 1.47830833699722915e-07 0.625 --- 183,160,22,0.121 164,163,0,0.000 6.356 9.89 chr2 207422164 207422164 G A exonic ADAM23 nonsynonymous SNV ADAM23:NM_003812:exon10:c.G947A:p.R316H Score=613;Name=lod=415 ID=COSM209734;OCCURENCE=1(large_intestine) 0.01 0.999635 C 0.95 T 0.995 D 0.999995 D 0.999733 D 5.26 63 14 0.182 88 0 0.000 1.16476134290123571e-05 0.714 --- 65,54,11,0.169 72,71,0,0.000 3.736 10.156 chr2 207639034 207639034 A T exonic FASTKD2 nonsynonymous SNV FASTKD2:NM_001136193:exon7:c.A1340T:p.D447V,FASTKD2:NM_001136194:exon7:c.A1340T:p.D447V,FASTKD2:NM_014929:exon7:c.A1340T:p.D447V 0.04 0.998998 C 0.97 D 0.36 P 0.995788 N 0.757238 D 4.26 65 10 0.133 58 0 0.000 0.00497815684189467663 0.500 --- 58,51,7,0.121 38,38,0,0.000 1.401 5.757 chr2 207988981 207988981 C T exonic KLF7 nonsynonymous SNV KLF7:NM_001270943:exon2:c.G151A:p.V51M,KLF7:NM_001270944:exon2:c.G166A:p.V56M,KLF7:NM_003709:exon2:c.G250A:p.V84M,KLF7:NM_001270942:exon3:c.G250A:p.V84M Score=363;Name=lod=40 0 rs200852970 0.09 0.999195 C 0.87 T 0.0 B 0.999684 D 0.859396 D 4.4 173 24 0.122 244 0 0.000 1.75075636065173101e-09 0.375 --- 176,152,24,0.136 203,202,0,0.000 8.357 11.274 chr2 211018787 211018787 A G exonic KANSL1L nonsynonymous SNV KANSL1L:NM_152519:exon2:c.T520C:p.Y174H Score=487;Name=lod=127 0 0.799567 N 1.0 D 0.652 P 0.954856 N 0.00522 N 5.56 88 12 0.120 124 0 0.000 4.255333871523819e-05 0.333 --- 87,76,11,0.126 111,111,0,0.000 4.092 9.685 chr2 211469933 211469933 T C exonic CPS1 synonymous SNV CPS1:NM_001122634:exon7:c.T591C:p.C197C,CPS1:NM_001875:exon17:c.T1944C:p.C648C,CPS1:NM_001122633:exon18:c.T1962C:p.C654C Score=544;Name=lod=217 92 14 0.132 167 0 0.000 1.01265297950577096e-06 0.429 --- 95,80,15,0.158 139,139,0,0.000 6.180 12.131 chr2 216242909 216242909 G A exonic FN1 nonsynonymous SNV FN1:NM_212474:exon33:c.C5156T:p.T1719I,FN1:NM_212476:exon33:c.C5156T:p.T1719I,FN1:NM_002026:exon34:c.C5426T:p.T1809I,FN1:NM_212478:exon34:c.C5426T:p.T1809I,FN1:NM_212482:exon35:c.C5699T:p.T1900I Score=289;Name=lod=20 0 0.025408 N 0.98 D 0.835 P 0.999915 D 7.54E-4 N 5.04 29 12 0.293 35 0 0.000 0.000281512259393535288 0.250 --- 35,23,12,0.343 30,30,0,0.000 3.641 8.449 chr2 216960852 216960852 C T exonic TMEM169 nonsynonymous SNV TMEM169:NM_001142311:exon2:c.C166T:p.R56C,TMEM169:NM_001142312:exon2:c.C166T:p.R56C,TMEM169:NM_138390:exon2:c.C166T:p.R56C,TMEM169:NM_001142310:exon3:c.C166T:p.R56C Score=440;Name=lod=82 ID=COSM1405354;OCCURENCE=5(large_intestine) 0 0.776658 N 1.0 D 0.997 D 1.0 D 0.994897 D 1.58 149 31 0.172 177 0 0.000 2.32564390922010515e-10 0.419 --- 160,132,28,0.175 151,151,0,0.000 8.561 9.548 chr2 217541520 217541520 T C exonic IGFBP5 nonsynonymous SNV IGFBP5:NM_000599:exon4:c.A773G:p.D258G Score=284;Name=lod=19 0.9 0.240974 N 0.0 T 0.0010 B 0.998716 N 0.475164 N 4.16 83 15 0.153 93 0 0.000 3.65073674217680145e-05 0.667 --- 81,68,13,0.160 74,74,0,0.000 3.774 10.389 chr2 218683000 218683000 C T exonic TNS1 nonsynonymous SNV TNS1:NM_022648:exon24:c.G3743A:p.R1248Q Score=358;Name=lod=38 0.1 0.967792 C 0.8 T 0.997 D 0.999417 N 0.663425 D 2.26 219 56 0.204 322 0 0.000 4.90120390787134509e-21 0.536 --- 224,177,47,0.210 273,273,0,0.000 17.550 5.75 chr2 218713453 218713453 G A exonic TNS1 nonsynonymous SNV TNS1:NM_022648:exon17:c.C1412T:p.S471L 0.000154 0.07 8.05E-4 N 0.96 D 0.0030 B 0.96449 N 8.7E-5 N 1.63 210 38 0.153 325 0 0.000 2.66583826429758542e-15 0.395 --- 210,176,34,0.162 277,277,0,0.000 13.136 10.748 chr2 218999615 218999615 C G exonic CXCR2 nonsynonymous SNV CXCR2:NM_001557:exon3:c.C91G:p.P31A,CXCR2:NM_001168298:exon4:c.C91G:p.P31A 0.12 0.923622 N 0.37 T 0.025 B 0.010198 N 0.048382 N -10.1 148 28 0.159 163 0 0.000 3.81116674025282416e-09 0.750 --- 152,124,27,0.179 141,141,0,0.000 8.216 15.109 chr2 219130796 219130796 C T exonic AAMP nonsynonymous SNV AAMP:NM_001087:exon6:c.G754A:p.V252I Score=321;Name=lod=27 0.28 0.998981 C 0.59 T 0.182 P 1.0 D 0.997731 D 4.96 73 18 0.198 72 0 0.000 1.54223572201055726e-05 0.444 --- 75,61,14,0.187 60,60,0,0.000 3.596 13.009 chr2 219249902 219249902 G T exonic SLC11A1 nonsynonymous SNV SLC11A1:NM_000578:exon4:c.G306T:p.L102F Score=577;Name=lod=295 0.01 0.997877 C 0.99 D 0.489 P 0.997937 N 0.668894 NA 3.2 143 20 0.123 151 0 0.000 1.32896001600834325e-06 0.650 --- 137,119,18,0.131 125,125,0,0.000 5.248 6.777 chr2 219602944 219602944 A G exonic TTLL4 nonsynonymous SNV TTLL4:NM_014640:exon3:c.A545G:p.Y182C Score=454;Name=lod=93 0 0.955948 C 1.0 D 0.972 D 0.127197 N 0.135126 N 3.29 221 26 0.105 237 0 0.000 1.6980670393238023e-08 0.538 --- 206,185,21,0.102 198,198,0,0.000 6.220 10.708 chr2 219849744 219849744 A G splicing FEV NM_017521:exon2:c.52+2T>C Score=597;Name=lod=355 83 24 0.224 94 0 0.000 7.06987108263298853e-08 0.458 --- 91,72,18,0.200 75,75,0,0.000 4.874 14.593 chr2 219870841 219870841 C T exonic CCDC108 synonymous SNV CCDC108:NM_194302:exon31:c.G4824A:p.S1608S 167 45 0.212 192 0 0.000 2.95833842775339989e-14 0.444 --- 167,131,36,0.216 151,151,0,0.000 10.670 13.199 chr2 220102068 220102068 C T exonic GLB1L nonsynonymous SNV GLB1L:NM_024506:exon17:c.G1691A:p.G564D Score=590;Name=lod=333 0 0.974533 C 1.0 D 0.992 D 1.0 D 0.999966 D 5.03 107 27 0.201 132 0 0.000 3.51575224719903371e-09 0.481 --- 116,94,22,0.190 116,114,0,0.000 6.794 9.937 chr2 220162015 220162015 C T exonic PTPRN synonymous SNV PTPRN:NM_001199763:exon13:c.G1941A:p.P647P,PTPRN:NM_001199764:exon14:c.G1758A:p.P586P,PTPRN:NM_002846:exon14:c.G2028A:p.P676P 228 36 0.136 274 0 0.000 2.01127620322109287e-12 0.472 --- 224,192,32,0.143 222,222,0,0.000 9.847 13.764 chr2 220174039 220174039 G A exonic PTPRN nonsynonymous SNV PTPRN:NM_001199763:exon1:c.C16T:p.R6W,PTPRN:NM_002846:exon1:c.C16T:p.R6W Score=403;Name=lod=58 0 0.93317 N 1.0 D 0.479601 NA 0.560231 N 0.032107 N 2.85 70 14 0.167 91 0 0.000 1.86776013205583968e-05 0.214 --- 76,63,13,0.171 79,79,0,0.000 4.271 3.183 chr2 220368812 220368812 A G exonic GMPPA nonsynonymous SNV GMPPA:NM_013335:exon7:c.A497G:p.H166R,GMPPA:NM_205847:exon7:c.A497G:p.H166R Score=551;Name=lod=231 0 0.998378 C 1.0 D 1.0 D 1.0 D 0.999969 D 4.91 79 12 0.132 96 0 0.000 0.000118512134312750526 0.667 --- 80,69,10,0.127 78,78,0,0.000 2.841 9.631 chr2 220404408 220404408 G A exonic CHPF synonymous SNV CHPF:NM_001195731:exon4:c.C1539T:p.S513S,CHPF:NM_024536:exon4:c.C2025T:p.S675S Score=524;Name=lod=179 0.000769 0.0014 rs149541521 204 49 0.194 232 0 0.000 1.92521737209797446e-15 0.592 --- 221,181,40,0.181 210,210,0,0.000 12.382 15.477 chr2 220432030 220432030 C A exonic OBSL1 nonsynonymous SNV OBSL1:NM_001173408:exon4:c.G1802T:p.S601I,OBSL1:NM_001173431:exon4:c.G1802T:p.S601I,OBSL1:NM_015311:exon4:c.G1802T:p.S601I Score=431;Name=lod=75 0 112 24 0.176 145 0 0.000 8.6683941536568147e-09 0.500 --- 120,98,22,0.183 129,129,0,0.000 7.450 9.47 chr2 220435154 220435154 G T exonic OBSL1 stopgain OBSL1:NM_001173408:exon1:c.C801A:p.C267X,OBSL1:NM_001173431:exon1:c.C801A:p.C267X,OBSL1:NM_015311:exon1:c.C801A:p.C267X Score=640;Name=lod=533 0 197 35 0.151 213 0 0.000 3.45801744194143332e-11 0.514 --- 199,171,28,0.141 192,192,0,0.000 8.522 9.834 chr2 220504225 220504225 G A exonic SLC4A3 synonymous SNV SLC4A3:NM_005070:exon20:c.G3045A:p.A1015A,SLC4A3:NM_201574:exon20:c.G3126A:p.A1042A 138 28 0.169 186 0 0.000 1.95107865541715908e-10 0.571 --- 144,122,22,0.153 156,156,0,0.000 7.404 7.892 chr2 225639745 225639745 G A exonic DOCK10 nonsynonymous SNV DOCK10:NM_014689:exon52:c.C5890T:p.R1964W Score=436;Name=lod=79 ID=COSM70510,COSM70511;OCCURENCE=1(ovary),4(large_intestine) 0 131 29 0.181 171 0 0.000 1.65638989124554729e-10 0.483 --- 130,108,22,0.169 141,140,0,0.000 7.420 10.09 chr2 225698877 225698877 T C exonic DOCK10 nonsynonymous SNV DOCK10:NM_014689:exon26:c.A2954G:p.H985R Score=446;Name=lod=87 rs111517601 0.02 40 8 0.167 63 0 0.000 0.000854644537699643429 0.500 --- 37,31,6,0.162 49,49,0,0.000 2.306 6.886 chr2 227895226 227895226 G A exonic COL4A4 synonymous SNV COL4A4:NM_000092:exon41:c.C3906T:p.P1302P 101 13 0.114 150 0 0.000 1.20407786579397599e-05 0.462 --- 100,88,11,0.111 113,113,0,0.000 3.773 7.575 chr2 228563929 228563929 A G exonic SLC19A3 nonsynonymous SNV SLC19A3:NM_025243:exon3:c.T502C:p.S168P 0.13 0.999652 C 0.99 D 0.018 B 0.999801 N 0.713515 D 0.816 148 31 0.173 169 0 0.000 3.21061792590256706e-10 0.645 --- 152,124,27,0.179 144,144,0,0.000 8.299 60 chr2 232137670 232137670 C T exonic ARMC9 nonsynonymous SNV ARMC9:NM_025139:exon14:c.C1213T:p.R405C Score=425;Name=lod=71 0 0.997382 C 1.0 D 1.0 D 1.0 D 0.973782 D 4.13 122 19 0.135 175 0 0.000 1.07022368784347393e-07 0.632 --- 122,106,16,0.131 142,141,0,0.000 5.582 7.572 chr2 232263455 232263455 C T exonic B3GNT7 nonsynonymous SNV B3GNT7:NM_145236:exon2:c.C1025T:p.T342M 0.15 228 61 0.211 301 0 0.000 3.33773594266064449e-21 0.426 --- 256,205,51,0.199 255,255,0,0.000 16.254 60 chr2 233675975 233675975 G A exonic GIGYF2 synonymous SNV GIGYF2:NM_001103148:exon16:c.G1902A:p.L634L,GIGYF2:NM_001103146:exon17:c.G1920A:p.L640L,GIGYF2:NM_001103147:exon19:c.G1983A:p.L661L,GIGYF2:NM_015575:exon19:c.G1920A:p.L640L Score=521;Name=lod=175 35 11 0.239 47 0 0.000 0.000218834444029259331 0.818 --- 38,28,9,0.243 41,41,0,0.000 3.166 8.999 chr2 234354304 234354304 C T exonic DGKD synonymous SNV DGKD:NM_003648:exon10:c.C1098T:p.N366N,DGKD:NM_152879:exon11:c.C1230T:p.N410N 250 28 0.101 265 0 0.000 4.46751480366853251e-09 0.536 --- 218,198,20,0.092 216,216,0,0.000 5.917 6.791 chr2 234460162 234460162 C T exonic USP40 nonsynonymous SNV USP40:NM_018218:exon6:c.G733A:p.A245T Score=547;Name=lod=222 0.06 112 17 0.132 130 0 0.000 4.05737021814151976e-06 0.412 --- 111,97,14,0.126 119,119,0,0.000 4.626 3.612 chr2 234602085 234602085 T C exonic UGT1A6 synonymous SNV UGT1A6:NM_001072:exon1:c.T435C:p.D145D Score=325;Name=lod=28 0 407 99 0.196 507 0 0.000 6.96024645865559132e-33 0.485 --- 425,339,86,0.202 442,442,0,0.000 28.748 60 chr2 234652326 234652326 G A exonic DNAJB3 synonymous SNV DNAJB3:NM_001001394:exon1:c.C237T:p.G79G Score=0.922606;Name=chr2:234655487 302 63 0.173 409 0 0.000 1.23387749581133018e-22 0.587 --- 303,249,53,0.175 335,335,0,0.000 18.320 60 chr2 234652356 234652356 G A exonic DNAJB3 synonymous SNV DNAJB3:NM_001001394:exon1:c.C207T:p.G69G Score=381;Name=lod=47 Score=0.922606;Name=chr2:234655487 rs199592554 331 52 0.136 418 0 0.000 3.13616494722105876e-18 0.404 --- 309,268,41,0.133 334,334,0,0.000 13.689 60 chr2 238283530 238283530 G A exonic COL6A3 synonymous SNV COL6A3:NM_057166:exon5:c.C1383T:p.A461A,COL6A3:NM_057164:exon6:c.C1983T:p.A661A,COL6A3:NM_057165:exon7:c.C2586T:p.A862A,COL6A3:NM_057167:exon7:c.C2586T:p.A862A,COL6A3:NM_004369:exon8:c.C3204T:p.A1068A 202 41 0.169 239 0 0.000 1.51256270373962887e-13 0.610 --- 211,174,35,0.167 206,206,0,0.000 10.899 60 chr2 239169565 239169565 G A exonic PER2 synonymous SNV PER2:NM_022817:exon13:c.C1446T:p.Y482Y Score=591;Name=lod=335 105 34 0.245 122 0 0.000 7.60822663098463231e-11 0.471 --- 113,87,25,0.223 103,101,0,0.000 7.579 13.382 chr2 239186524 239186524 G T exonic PER2 synonymous SNV PER2:NM_022817:exon2:c.C54A:p.P18P 124 23 0.156 141 0 0.000 1.03925334543833022e-07 0.348 --- 128,108,19,0.150 122,122,0,0.000 5.707 9.167 chr2 239757256 239757256 A G exonic TWIST2 nonsynonymous SNV TWIST2:NM_001271893:exon1:c.A400G:p.S134G,TWIST2:NM_057179:exon1:c.A400G:p.S134G Score=758;Name=lod=1608 0.04 154 42 0.214 238 0 0.000 2.14693581356319449e-16 0.476 --- 161,128,32,0.200 201,201,0,0.000 12.138 60 chr2 240961617 240961617 T C exonic NDUFA10 synonymous SNV NDUFA10:NM_004544:exon2:c.A216G:p.K72K 125 24 0.161 163 0 0.000 6.92668780653948398e-09 0.542 --- 124,108,16,0.129 141,140,0,0.000 5.489 15.955 chr2 241069348 241069348 G A exonic MYEOV2 nonsynonymous SNV MYEOV2:NM_138336:exon4:c.C361T:p.R121W 0.002768 0.0027 0.016 rs115914450 0 0.001135 N 1.0 D 0.363253 NA 0.574805 NA 1.99E-4 N -2.67 90 13 0.126 146 0 0.000 6.48058942954927526e-06 0.538 --- 82,73,9,0.110 115,115,0,0.000 3.543 9.851 chr2 241662891 241662891 C A exonic KIF1A nonsynonymous SNV KIF1A:NM_004321:exon39:c.G4100T:p.R1367L,KIF1A:NM_001244008:exon42:c.G4403T:p.R1468L Score=622;Name=lod=449 0 124 34 0.215 166 0 0.000 3.2423608525349206e-12 0.471 --- 127,100,27,0.213 131,131,0,0.000 8.993 11.187 chr2 241679488 241679488 G A exonic KIF1A synonymous SNV KIF1A:NM_004321:exon34:c.C3585T:p.R1195R,KIF1A:NM_001244008:exon37:c.C3888T:p.R1296R 0.001493 0.0032 rs144520412 82 15 0.155 89 0 0.000 4.08274976933339011e-05 0.533 --- 75,61,14,0.187 65,65,0,0.000 4.020 8.23 chr2 241697884 241697884 G A exonic KIF1A synonymous SNV KIF1A:NM_004321:exon24:c.C2448T:p.Y816Y,KIF1A:NM_001244008:exon26:c.C2475T:p.Y825Y 0.000078 ID=COSM1406862;OCCURENCE=1(large_intestine) rs199996308 120 34 0.221 156 0 0.000 5.9444855064451325e-12 0.500 --- 126,99,27,0.214 124,124,0,0.000 8.498 60 chr2 241830954 241830954 C T splicing C2orf54 NM_001085437:exon3:c.740+1G>A,NM_024861:exon3:c.236+1G>A Score=343;Name=lod=33 133 27 0.169 136 0 0.000 2.68220150357355444e-08 0.704 --- 138,114,24,0.174 120,120,0,0.000 6.693 10.686 chr2 241834934 241834934 C T exonic C2orf54 nonsynonymous SNV C2orf54:NM_001085437:exon1:c.G481A:p.V161I Score=426;Name=lod=72 0.06 0.99848 C 0.94 T 0.877 D 0.997027 N 0.0827 N 4.98 149 22 0.129 165 0 0.000 2.48074562636831312e-07 0.818 --- 150,129,21,0.140 140,140,0,0.000 6.245 9.462 chr2 241988448 241988448 C T exonic SNED1 nonsynonymous SNV SNED1:NM_001080437:exon11:c.C1514T:p.A505V Score=481;Name=lod=120 0.08 59 10 0.145 101 0 0.000 8.01599878162854387e-05 0.800 --- 64,54,10,0.156 77,77,0,0.000 3.610 5.232 chr2 242606219 242606219 C T exonic ATG4B nonsynonymous SNV ATG4B:NM_013325:exon8:c.C698T:p.T233M,ATG4B:NM_178326:exon8:c.C698T:p.T233M Score=443;Name=lod=84 0.000079 0 147 34 0.188 173 0 0.000 2.7605961779563431e-11 0.559 --- 158,129,29,0.184 150,150,0,0.000 8.930 9.547 chr2 242644135 242644135 G A exonic ING5 synonymous SNV ING5:NM_032329:exon2:c.G105A:p.T35T Score=500;Name=lod=143 47 15 0.242 64 0 0.000 9.04321890817634957e-06 0.400 --- 50,39,11,0.220 51,51,0,0.000 3.629 12.385 chr2 242814679 242814679 C T exonic CXXC11 synonymous SNV CXXC11:NM_173821:exon2:c.C972T:p.T324T 167 39 0.189 209 0 0.000 1.85259094779866283e-13 0.487 --- 185,147,38,0.205 168,168,0,0.000 11.263 60 chr3 431056 431056 C T exonic CHL1 nonsynonymous SNV CHL1:NM_001253388:exon18:c.C2369T:p.T790M,CHL1:NM_001253387:exon19:c.C2321T:p.T774M,CHL1:NM_006614:exon20:c.C2369T:p.T790M Score=329;Name=lod=29 0.000077 0 0.998476 C 0.99 D 0.976 D 1.0 D 0.032127 N 3.8 105 15 0.125 176 0 0.000 7.56256749094763917e-07 0.733 --- 102,89,12,0.119 138,137,0,0.000 4.640 5.434 chr3 3887900 3887900 G T exonic LRRN1 nonsynonymous SNV LRRN1:NM_020873:exon2:c.G1575T:p.Q525H Score=557;Name=lod=244 0.16 0.993603 C 0.29 T 0.0030 B 1.0 D 0.987286 D 4.5 140 27 0.162 188 0 0.000 4.28908496954505448e-10 0.556 --- 147,124,23,0.156 156,156,0,0.000 7.642 7.919 chr3 3887977 3887977 C T exonic LRRN1 nonsynonymous SNV LRRN1:NM_020873:exon2:c.C1652T:p.T551M Score=415;Name=lod=65 0.000154 rs145686073 0.02 0.999009 C 0.92 T 0.159 P 0.999992 D 0.823205 D 5.37 140 33 0.191 171 0 0.000 4.35493033945943042e-11 0.515 --- 152,123,28,0.185 149,149,0,0.000 8.722 13.188 chr3 4810230 4810230 C T exonic ITPR1 nonsynonymous SNV ITPR1:NM_002222:exon42:c.C5572T:p.R1858W,ITPR1:NM_001099952:exon43:c.C5617T:p.R1873W,ITPR1:NM_001168272:exon45:c.C5716T:p.R1906W 0 124 33 0.210 187 0 0.000 7.47520288111618911e-13 0.576 --- 136,106,29,0.215 146,146,0,0.000 9.992 11.734 chr3 4853049 4853049 T C exonic ITPR1 nonsynonymous SNV ITPR1:NM_002222:exon52:c.T7184C:p.I2395T,ITPR1:NM_001099952:exon53:c.T7229C:p.I2410T,ITPR1:NM_001168272:exon55:c.T7328C:p.I2443T Score=548;Name=lod=224 0 104 32 0.235 129 0 0.000 8.18199055814604233e-11 0.406 --- 101,78,23,0.228 96,95,0,0.000 7.138 60 chr3 5024913 5024913 C T exonic BHLHE40 nonsynonymous SNV BHLHE40:NM_003670:exon5:c.C775T:p.P259S 0.86 0.998778 C 0.12 T 0.0 B 0.999929 D 0.653407 D 5.17 240 66 0.216 283 0 0.000 4.91061045788358853e-21 0.470 --- 270,212,58,0.215 241,241,0,0.000 17.458 60 chr3 8661600 8661600 G A exonic SSUH2 nonsynonymous SNV SSUH2:NM_001256748:exon12:c.C1082T:p.A361V,SSUH2:NM_001256749:exon12:c.C863T:p.A288V,SSUH2:NM_015931:exon12:c.C1016T:p.A339V 0.41 0.17578 N 0.94 T 0.0 B 0.970722 N 0.001533 N -1.41 137 16 0.105 139 0 0.000 2.60793461481091395e-05 0.438 --- 119,107,12,0.101 112,112,0,0.000 3.414 5.01 chr3 9547746 9547746 C G exonic LHFPL4 nonsynonymous SNV LHFPL4:NM_198560:exon3:c.G548C:p.G183A Score=694;Name=lod=881 0.23 0.998636 C 0.62 T 0.024 B 0.999999 D 0.980342 D 5.07 119 26 0.179 156 0 0.000 1.58306228496160031e-09 0.500 --- 115,97,18,0.157 125,125,0,0.000 6.077 12.988 chr3 9974313 9974313 T C exonic IL17RC nonsynonymous SNV IL17RC:NM_001203265:exon15:c.T1313C:p.L438P,IL17RC:NM_001203264:exon16:c.T1358C:p.L453P,IL17RC:NM_032732:exon16:c.T1364C:p.L455P,IL17RC:NM_001203263:exon17:c.T1409C:p.L470P,IL17RC:NM_153460:exon17:c.T1409C:p.L470P,IL17RC:NM_153461:exon17:c.T1622C:p.L541P Score=440;Name=lod=82 0 0.994605 C 1.0 D 0.989 D 0.999966 D 0.167527 N 4.25 116 16 0.121 117 0 0.000 2.78460369780740669e-05 0.625 --- 108,96,12,0.111 96,95,0,0.000 3.343 8.325 chr3 10015337 10015337 C T exonic EMC3 nonsynonymous SNV EMC3:NM_018447:exon5:c.G469A:p.E157K Score=528;Name=lod=187 0.02 0.985278 C 0.99 D 0.031 B 1.0 D 0.999992 D 4.51 55 17 0.236 64 0 0.000 8.0953209991029294e-06 0.412 --- 54,41,13,0.241 51,51,0,0.000 3.945 15.955 chr3 10400560 10400560 G A exonic ATP2B2 nonsynonymous SNV ATP2B2:NM_001683:exon11:c.C1816T:p.R606C,ATP2B2:NM_001001331:exon14:c.C1951T:p.R651C Score=469;Name=lod=107 0 0.966736 C 0.98 D 0.962 D 1.0 D 0.0 N 2.68 136 30 0.181 192 0 0.000 2.07677490642607766e-11 0.333 --- 145,121,24,0.166 158,158,0,0.000 8.151 14.436 chr3 11078588 11078588 G A exonic SLC6A1 nonsynonymous SNV SLC6A1:NM_003042:exon16:c.G1736A:p.R579H Score=295;Name=lod=21 ID=COSM1226505;OCCURENCE=1(large_intestine) 0.12 0.996588 C 0.88 T 0.0 B 0.982345 U 0.349672 N 3.59 68 17 0.200 77 0 0.000 8.57605880328163903e-06 0.588 --- 67,54,13,0.194 59,59,0,0.000 3.764 14.75 chr3 12195084 12195084 G A exonic TIMP4 synonymous SNV TIMP4:NM_003256:exon5:c.C606T:p.D202D Score=566;Name=lod=266 ID=COSM479297;OCCURENCE=1(kidney) 184 46 0.200 211 0 0.000 1.5874856658358499e-14 0.478 --- 188,153,35,0.186 172,171,0,0.000 10.545 11.776 chr3 12858462 12858462 C T exonic CAND2 synonymous SNV CAND2:NM_012298:exon8:c.C1752T:p.D584D,CAND2:NM_001162499:exon10:c.C2031T:p.D677D 0.000161 ID=COSM237113;OCCURENCE=1(prostate),1(large_intestine) 191 39 0.170 193 0 0.000 1.80159360228175151e-11 0.538 --- 193,161,32,0.166 162,162,0,0.000 8.984 12.528 chr3 13667975 13667975 C T exonic FBLN2 nonsynonymous SNV FBLN2:NM_001998:exon9:c.C2186T:p.T729M,FBLN2:NM_001004019:exon10:c.C2327T:p.T776M,FBLN2:NM_001165035:exon10:c.C2327T:p.T776M Score=385;Name=lod=49 0.000078 0 104 23 0.181 166 0 0.000 1.29774569387535674e-09 0.565 --- 107,87,20,0.187 138,138,0,0.000 7.672 12.626 chr3 14558634 14558634 G T exonic GRIP2 unknown UNKNOWN Score=429;Name=lod=74 0.01 149 18 0.108 169 0 0.000 2.10626290802066216e-06 0.611 --- 129,116,13,0.101 132,131,1,0.008 3.185 8.346 chr3 15303744 15303744 G A exonic SH3BP5 nonsynonymous SNV SH3BP5:NM_001018009:exon5:c.C77T:p.T26M,SH3BP5:NM_004844:exon5:c.C548T:p.T183M Score=516;Name=lod=166 0 0.993514 C 0.958456 NA 1.0 D 1.0 D 0.994244 D 4.05 141 25 0.151 168 0 0.000 9.60325724191374849e-09 0.360 --- 125,104,21,0.168 128,128,0,0.000 6.833 10.595 chr3 17052306 17052306 A G exonic PLCL2 nonsynonymous SNV PLCL2:NM_015184:exon2:c.A1090G:p.M364V Score=527;Name=lod=185 0.56 0.983746 C 0.19 T 0.039 B 1.0 D 0.439511 N 4.46 88 17 0.162 122 0 0.000 9.54948428225199799e-07 0.647 --- 94,79,15,0.160 110,110,0,0.000 5.331 12.399 chr3 20026923 20026923 A G exonic PP2D1 synonymous SNV PP2D1:NM_001252657:exon3:c.T1842C:p.I614I Score=464;Name=lod=103 75 19 0.202 119 0 0.000 5.77786009957797836e-08 0.474 --- 80,65,15,0.188 97,96,0,0.000 5.478 15.051 chr3 20189771 20189771 G A exonic KAT2B synonymous SNV KAT2B:NM_003884:exon16:c.G2193A:p.T731T 69 13 0.159 92 0 0.000 3.28170705933505968e-05 0.538 --- 70,58,12,0.171 80,79,0,0.000 4.173 7.984 chr3 23250292 23250292 A G exonic UBE2E2 synonymous SNV UBE2E2:NM_152653:exon2:c.A102G:p.E34E Score=552;Name=lod=233 138 32 0.188 178 0 0.000 2.13227849911853661e-11 0.375 --- 134,109,25,0.187 142,142,0,0.000 8.396 60 chr3 24185129 24185129 G A exonic THRB nonsynonymous SNV THRB:NM_000461:exon7:c.C601T:p.R201W,THRB:NM_001128176:exon8:c.C601T:p.R201W,THRB:NM_001128177:exon8:c.C601T:p.R201W,THRB:NM_001252634:exon9:c.C601T:p.R201W Score=666;Name=lod=679 0 0.995147 C 1.0 D 0.951 D 0.999891 D 0.999896 D 4.29 139 26 0.158 169 0 0.000 3.69572070720508045e-09 0.538 --- 128,107,21,0.164 133,133,0,0.000 6.893 13.589 chr3 30648471 30648471 T C splicing TGFBR2 NM_003242:exon1:c.94+2T>C,NM_001024847:exon1:c.94+2T>C Score=535;Name=lod=200 106 20 0.159 124 0 0.000 8.47618518741611581e-07 0.600 --- 94,78,16,0.170 104,103,0,0.000 5.457 14.051 chr3 30713456 30713456 G C exonic TGFBR2 nonsynonymous SNV TGFBR2:NM_003242:exon4:c.G781C:p.A261P,TGFBR2:NM_001024847:exon5:c.G856C:p.A286P Score=547;Name=lod=222 0 0.999536 C 0.99 D 0.97 D 1.0 D 0.999981 D 5.09 230 49 0.176 307 0 0.000 1.43652563950489756e-17 0.490 --- 239,194,45,0.188 256,255,0,0.000 15.214 11.461 chr3 32932739 32932739 G A exonic TRIM71 synonymous SNV TRIM71:NM_001039111:exon4:c.G2043A:p.T681T Score=610;Name=lod=400 202 59 0.226 258 0 0.000 8.98053390345155169e-20 0.424 --- 231,177,53,0.230 233,233,0,0.000 17.586 60 chr3 33467101 33467101 C T exonic UBP1 synonymous SNV UBP1:NM_001128160:exon2:c.G246A:p.T82T,UBP1:NM_014517:exon2:c.G246A:p.T82T,UBP1:NM_001128161:exon3:c.G246A:p.T82T 131 17 0.115 171 0 0.000 1.26952430003999278e-06 0.529 --- 119,105,14,0.118 147,147,0,0.000 5.085 8.251 chr3 33863538 33863538 T C exonic PDCD6IP synonymous SNV PDCD6IP:NM_001162429:exon4:c.T426C:p.N142N,PDCD6IP:NM_001256192:exon4:c.T426C:p.N142N,PDCD6IP:NM_013374:exon4:c.T426C:p.N142N Score=699;Name=lod=927 85 12 0.124 121 0 0.000 4.03385324082060216e-05 0.833 --- 81,70,11,0.136 94,94,0,0.000 3.849 8.506 chr3 36422169 36422169 G A exonic STAC nonsynonymous SNV STAC:NM_003149:exon1:c.G34A:p.V12M Score=593;Name=lod=344 0.07 0.999666 C 0.93 T 0.011 B 0.947764 N 5.5E-5 N 5.01 111 22 0.165 109 0 0.000 1.03797245312582721e-06 0.545 --- 104,85,19,0.183 89,89,0,0.000 5.449 10.416 chr3 36884181 36884181 C T exonic TRANK1 nonsynonymous SNV TRANK1:NM_014831:exon17:c.G5080A:p.V1694I Score=479;Name=lod=118 ID=COSM1422515,COSM1422513,COSM1422514;OCCURENCE=1(large_intestine) 0.1 90 10 0.100 113 0 0.000 0.000404966813607703971 0.100 --- 81,71,10,0.123 89,89,0,0.000 3.354 6.332 chr3 37514922 37514922 C T exonic ITGA9 stopgain ITGA9:NM_002207:exon3:c.C391T:p.R131X Score=597;Name=lod=357 1 0.983136 C 0.902521 NA 0.732786 NA 1.0 D 1.0 A 3.29 82 19 0.188 124 0 0.000 8.81721840749809532e-08 0.526 --- 82,67,15,0.183 97,97,0,0.000 5.416 11.977 chr3 38595795 38595795 G A exonic SCN5A synonymous SNV SCN5A:NM_001099405:exon26:c.C4734T:p.F1578F,SCN5A:NM_001160161:exon26:c.C4626T:p.F1542F,SCN5A:NM_000335:exon27:c.C4785T:p.F1595F,SCN5A:NM_001099404:exon27:c.C4788T:p.F1596F,SCN5A:NM_198056:exon27:c.C4788T:p.F1596F Score=617;Name=lod=428 0.000397 0.0009 ID=COSM187290;OCCURENCE=2(large_intestine) rs141789366 138 23 0.143 179 0 0.000 1.40229786262102392e-08 0.696 --- 135,115,20,0.148 149,149,0,0.000 6.805 6.554 chr3 38616877 38616877 G A exonic SCN5A nonsynonymous SNV SCN5A:NM_001160161:exon19:c.C3415T:p.R1139W,SCN5A:NM_000335:exon20:c.C3574T:p.R1192W,SCN5A:NM_001099404:exon20:c.C3577T:p.R1193W,SCN5A:NM_001099405:exon20:c.C3577T:p.R1193W,SCN5A:NM_001160160:exon20:c.C3574T:p.R1192W,SCN5A:NM_198056:exon20:c.C3577T:p.R1193W Score=612;Name=lod=410 0.000077 0.0005 ID=COSM1240139,COSM1240138,COSM84793;OCCURENCE=1(pancreas),1(oesophagus) rs192379242 0.01 95 20 0.174 122 0 0.000 2.06635060310231152e-07 0.550 --- 103,83,19,0.186 98,98,0,0.000 5.793 11.562 chr3 38755478 38755478 G A exonic SCN10A nonsynonymous SNV SCN10A:NM_006514:exon21:c.C3775T:p.R1259W Score=547;Name=lod=222 0.915283 N 1.0 D 1.0 D 1.0 D 0.777677 NA -0.333 152 29 0.160 190 0 0.000 2.62432853551776633e-10 0.448 --- 140,119,21,0.150 152,152,0,0.000 7.070 5.615 chr3 38888523 38888523 G T exonic SCN11A nonsynonymous SNV SCN11A:NM_014139:exon26:c.C5038A:p.L1680I Score=469;Name=lod=107 1 0.951026 C 0.0 T 0.367 P 0.999903 D 0.072677 N 2.94 122 32 0.208 157 0 0.000 2.78187396952762116e-11 0.594 --- 131,106,25,0.191 140,140,0,0.000 8.460 11.897 chr3 39229045 39229045 T C exonic XIRP1 nonsynonymous SNV XIRP1:NM_001198621:exon2:c.A1892G:p.K631R,XIRP1:NM_194293:exon2:c.A1892G:p.K631R Score=449;Name=lod=89 0.26 0.22489 N 0.85 T 0.032 B 0.938486 U 0.003689 N 0.807 372 56 0.131 409 0 0.000 7.90944868328235426e-18 0.518 --- 359,313,46,0.128 343,342,0,0.000 13.984 60 chr3 41607616 41607616 A G exonic ULK4 synonymous SNV ULK4:NM_017886:exon32:c.T3126C:p.H1042H Score=470;Name=lod=108 86 12 0.122 97 0 0.000 0.00034136049174243059 0.417 --- 73,64,9,0.123 74,74,0,0.000 2.850 8.78 chr3 42906731 42906731 G A exonic CCBP2 nonsynonymous SNV CCBP2:NM_001296:exon3:c.G737A:p.G246D Score=313;Name=lod=25 0.61 0.984116 C 0.14 T 0.508 P 0.860063 N 0.526002 D 2.76 225 27 0.107 285 0 0.000 6.16398228369351712e-10 0.630 --- 214,189,25,0.117 232,232,0,0.000 8.309 15.256 chr3 43121445 43121445 T C exonic GTDC2 synonymous SNV GTDC2:NM_032806:exon2:c.A1479G:p.S493S 217 37 0.146 269 0 0.000 5.79536262198251232e-13 0.514 --- 218,185,33,0.151 236,236,0,0.000 11.105 7.265 chr3 44611783 44611783 G A exonic ZKSCAN7 nonsynonymous SNV ZKSCAN7:NM_018651:exon6:c.G1181A:p.R394Q 0.35 0.78671 N 0.0 T 0.01 B 0.191055 N 0.00532 N 0.572 207 54 0.207 275 0 0.000 5.76638530552229431e-19 0.667 --- 228,182,46,0.202 238,238,0,0.000 15.401 60 chr3 44955101 44955101 C A exonic TGM4 nonsynonymous SNV TGM4:NM_003241:exon14:c.C1939A:p.Q647K 1 0.109893 N 0.0 T 0.0020 B 0.186966 U 0.001052 N -0.756 125 16 0.113 188 0 0.000 7.75125498151275477e-07 0.562 --- 116,101,15,0.129 153,153,0,0.000 5.717 12.478 chr3 45030654 45030654 G A exonic EXOSC7 nonsynonymous SNV EXOSC7:NM_015004:exon2:c.G80A:p.R27H Score=556;Name=lod=243 0 0.999729 C 1.0 D 1.0 D 1.0 D 0.999981 D 5.5 75 11 0.128 77 0 0.000 0.000813369536200836863 0.727 --- 70,60,10,0.143 65,65,0,0.000 2.835 7.361 chr3 45942663 45942663 T C exonic CCR9 nonsynonymous SNV CCR9:NM_006641:exon2:c.T347C:p.M116T,CCR9:NM_031200:exon3:c.T383C:p.M128T,CCR9:NM_001256369:exon4:c.T347C:p.M116T Score=545;Name=lod=218 0.01 0.951026 C 0.99 D 0.919 D 0.999997 D 0.42217 N 3.63 126 19 0.131 159 2 0.012 4.1485797584603458e-05 0.368 0.500 128,112,16,0.125 139,138,1,0.007 4.261 10.745 chr3 46009959 46009959 A T exonic FYCO1 synonymous SNV FYCO1:NM_024513:exon8:c.T867A:p.V289V 190 39 0.170 247 0 0.000 6.46505560350416684e-14 0.333 --- 203,167,36,0.177 207,207,0,0.000 11.737 15.955 chr3 46542207 46542207 C A exonic RTP3 nonsynonymous SNV RTP3:NM_031440:exon2:c.C517A:p.P173T 0.26 0.229071 N 1.0 D 0.011 B 5.89E-4 N 0.017317 N -0.146 144 22 0.133 157 0 0.000 2.68379912658375906e-07 0.455 --- 143,124,19,0.133 129,129,0,0.000 5.519 11.661 chr3 46622677 46622677 G A exonic TDGF1 synonymous SNV TDGF1:NM_001174136:exon6:c.G456A:p.P152P,TDGF1:NM_003212:exon6:c.G504A:p.P168P Score=0.978995;Name=chrX:109764804 0.000077 58 20 0.256 109 0 0.000 5.05195605822093345e-09 0.600 --- 63,49,14,0.222 90,90,0,0.000 5.806 11.329 chr3 46724715 46724715 G A exonic ALS2CL synonymous SNV ALS2CL:NM_001190707:exon10:c.C1014T:p.P338P,ALS2CL:NM_147129:exon10:c.C1014T:p.P338P 0.000077 168 57 0.253 216 0 0.000 4.33387645573855422e-19 0.333 --- 185,137,47,0.255 176,176,0,0.000 15.097 11.832 chr3 46785498 46785498 G A exonic PRSS45 synonymous SNV PRSS45:NM_199183:exon2:c.C246T:p.D82D 148 18 0.108 180 0 0.000 1.09345414326338836e-06 0.556 --- 137,121,16,0.117 152,152,0,0.000 5.399 6.961 chr3 47376185 47376185 C T exonic KLHL18 synonymous SNV KLHL18:NM_025010:exon6:c.C774T:p.D258D Score=605;Name=lod=384 rs111975390 124 19 0.133 119 0 0.000 9.3012729348861235e-06 0.579 --- 116,102,14,0.121 102,102,0,0.000 3.946 10.667 chr3 47742806 47742806 G T exonic SMARCC1 nonsynonymous SNV SMARCC1:NM_003074:exon11:c.C1127A:p.P376H Score=621;Name=lod=444 0 0.999723 C 1.0 D 0.996 D 1.0 N 0.003118 N 5.48 72 10 0.122 65 0 0.000 0.00244154903040966333 0.400 --- 68,59,9,0.132 51,51,0,0.000 2.005 7.228 chr3 47891422 47891422 C T exonic DHX30 nonsynonymous SNV DHX30:NM_138615:exon22:c.C3397T:p.R1133C,DHX30:NM_014966:exon23:c.C3280T:p.R1094C 0.01 0.962849 C 1.0 D 0.959 D 0.98249 N 0.766598 NA 3.35 257 59 0.187 353 0 0.000 2.59561191540062951e-21 0.475 --- 267,217,50,0.187 303,303,0,0.000 17.635 15.654 chr3 48200932 48200932 T A exonic CDC25A stopgain CDC25A:NM_201567:exon13:c.A1216T:p.R406X,CDC25A:NM_001789:exon14:c.A1336T:p.R446X Score=459;Name=lod=98 ID=COSM1045728;OCCURENCE=1(large_intestine),1(endometrium) 0 0.773551 N 0.885779 NA 0.698317 NA 1.0 D 1.0 A 1.39 31 7 0.184 59 0 0.000 0.000982408489160388135 0.286 --- 32,26,6,0.188 50,50,0,0.000 2.587 4.911 chr3 48310095 48310095 T C exonic ZNF589 nonsynonymous SNV ZNF589:NM_016089:exon4:c.T914C:p.V305A 0.05 0.095933 N 0.99 D 0.267 P 0.596698 NA 0.003426 N -1.23 183 26 0.124 255 0 0.000 3.97784164924745913e-10 0.615 --- 178,153,25,0.140 213,213,0,0.000 8.972 12.936 chr3 48460694 48460694 G A exonic PLXNB1 nonsynonymous SNV PLXNB1:NM_001130082:exon12:c.C2791T:p.R931W,PLXNB1:NM_002673:exon12:c.C2791T:p.R931W Score=472;Name=lod=111 rs200604038 0.01 0.998218 C 0.99 D 0.999 D 0.989482 N 0.912977 D 4.07 139 32 0.187 145 0 0.000 7.62216077309127317e-10 0.562 --- 132,107,25,0.189 117,117,0,0.000 7.389 8.96 chr3 48501924 48501924 G T exonic ATRIP nonsynonymous SNV ATRIP:NM_001271023:exon8:c.G1192T:p.A398S,ATRIP:NM_032166:exon8:c.G1471T:p.A491S,ATRIP:NM_130384:exon8:c.G1471T:p.A491S,ATRIP:NM_001271022:exon9:c.G1090T:p.A364S Score=478;Name=lod=117 0.1 0.999766 C 0.86 T 0.762 P 0.999997 D 0.0 N 5.6 205 46 0.183 256 0 0.000 9.0977705529078263e-16 0.543 --- 214,175,39,0.182 223,223,0,0.000 12.937 15.955 chr3 48506279 48506279 G T exonic ATRIP nonsynonymous SNV ATRIP:NM_032166:exon11:c.G2024T:p.R675L,ATRIP:NM_001271023:exon12:c.G1826T:p.R609L,ATRIP:NM_130384:exon12:c.G2105T:p.R702L,ATRIP:NM_001271022:exon13:c.G1724T:p.R575L Score=317;Name=lod=26 0 0.992057 C 0.98 D 0.999 D 0.999814 D 0.971608 D 3.96 225 54 0.194 244 0 0.000 2.5063014343493706e-16 0.463 --- 233,189,44,0.189 217,217,0,0.000 13.505 60 chr3 48667140 48667140 G T exonic SLC26A6 nonsynonymous SNV SLC26A6:NM_001040454:exon13:c.C1471A:p.H491N,SLC26A6:NM_022911:exon14:c.C1534A:p.H512N,SLC26A6:NM_134263:exon14:c.C1534A:p.H512N,SLC26A6:NM_134426:exon14:c.C1534A:p.H512N 0.06 0.986727 C 0.99 D 0.999 D 0.879291 NA 0.012889 N 3.75 131 17 0.115 96 0 0.000 0.000163491065193187005 0.529 --- 125,111,14,0.112 86,85,1,0.012 2.295 8.898 chr3 49568842 49568842 G A exonic DAG1 nonsynonymous SNV DAG1:NM_001177639:exon3:c.G898A:p.A300T,DAG1:NM_001177643:exon3:c.G898A:p.A300T,DAG1:NM_001177644:exon3:c.G898A:p.A300T,DAG1:NM_004393:exon3:c.G898A:p.A300T,DAG1:NM_001177635:exon4:c.G898A:p.A300T,DAG1:NM_001177637:exon4:c.G898A:p.A300T,DAG1:NM_001177638:exon4:c.G898A:p.A300T,DAG1:NM_001177640:exon4:c.G898A:p.A300T,DAG1:NM_001177641:exon4:c.G898A:p.A300T,DAG1:NM_001177642:exon4:c.G898A:p.A300T,DAG1:NM_001177636:exon5:c.G898A:p.A300T,DAG1:NM_001165928:exon6:c.G898A:p.A300T,DAG1:NM_001177634:exon6:c.G898A:p.A300T Score=587;Name=lod=324 0.17 0.99975 C 0.78 T 0.038 B 1.0 D 0.979795 D 5.55 201 48 0.193 256 0 0.000 1.4307845468337339e-16 0.479 --- 220,179,41,0.186 222,222,0,0.000 13.320 12.23 chr3 49694837 49694837 C T exonic BSN synonymous SNV BSN:NM_003458:exon5:c.C7848T:p.D2616D 256 60 0.190 309 0 0.000 9.68551382180953084e-20 0.550 --- 268,215,52,0.195 268,267,1,0.004 15.411 60 chr3 49847088 49847088 G T exonic UBA7 nonsynonymous SNV UBA7:NM_003335:exon16:c.C1975A:p.L659M Score=243;Name=lod=13 0.02 0.994848 C 0.98 D 0.366 P 0.99999 D 0.218689 N 3.3 173 45 0.206 220 0 0.000 1.81460605120885091e-15 0.578 --- 186,150,36,0.194 175,175,0,0.000 11.122 15.256 chr3 49897277 49897277 C T exonic CAMKV nonsynonymous SNV CAMKV:NM_024046:exon11:c.G980A:p.R327Q Score=584;Name=lod=314 0.03 0.985778 C 0.76 T 0.976 D 0.999214 N 0.998722 D 4.51 140 16 0.103 167 0 0.000 5.76798923007632756e-06 0.188 --- 143,126,16,0.113 136,136,0,0.000 4.688 5.259 chr3 49947639 49947639 C T exonic MON1A nonsynonymous SNV MON1A:NM_001142501:exon3:c.G1097A:p.R366H,MON1A:NM_032355:exon4:c.G1583A:p.R528H Score=385;Name=lod=49 0.000077 0.07 0.999326 C 0.86 T 0.951 D 0.999995 D 0.999853 D 5.73 196 45 0.187 204 0 0.000 1.97402494613980601e-13 0.600 --- 193,152,40,0.208 168,168,0,0.000 11.783 15.353 chr3 50253038 50253038 G A exonic SLC38A3 nonsynonymous SNV SLC38A3:NM_006841:exon6:c.G436A:p.A146T Score=514;Name=lod=164 106 23 0.178 117 0 0.000 1.38663237065087072e-07 0.478 --- 112,92,20,0.179 100,100,0,0.000 5.890 60 chr3 50339679 50339679 C T exonic HYAL1 nonsynonymous SNV HYAL1:NM_033159:exon2:c.G709A:p.G237S,HYAL1:NM_153282:exon2:c.G709A:p.G237S,HYAL1:NM_153283:exon2:c.G163A:p.G55S,HYAL1:NM_153281:exon4:c.G709A:p.G237S 0.27 0.012502 N 0.31 T 0.022 B 0.547407 N 0.247047 N -6.4 176 34 0.162 148 0 0.000 7.79877106301491589e-09 0.471 --- 178,147,31,0.174 132,132,0,0.000 7.746 9.227 chr3 50379514 50379514 G A exonic ZMYND10 stopgain ZMYND10:NM_015896:exon9:c.C931T:p.Q311X Score=366;Name=lod=41 0.19 0.963945 C 0.900988 NA 0.729628 NA 0.999988 D 1.0 A 3.23 268 62 0.188 284 0 0.000 1.14723680798831157e-18 0.435 --- 275,223,50,0.183 230,230,0,0.000 14.174 11.994 chr3 50390756 50390756 C T exonic CYB561D2 nonsynonymous SNV CYB561D2:NM_007022:exon4:c.C250T:p.R84C Score=437;Name=lod=80 0.0005 rs201280167 0 0.943899 N 1.0 D 0.999 D 0.999946 N 0.990065 D 2.03 258 30 0.104 300 0 0.000 2.22674832821766796e-10 0.567 --- 244,217,26,0.107 249,249,0,0.000 8.276 9.881 chr3 51308331 51308331 G T exonic DOCK3 nonsynonymous SNV DOCK3:NM_004947:exon24:c.G2441T:p.G814V Score=522;Name=lod=176 0.03 155 19 0.109 195 0 0.000 3.6211943743230037e-07 0.474 --- 135,119,16,0.119 148,148,0,0.000 5.357 8.043 chr3 51392444 51392444 C T exonic DOCK3 synonymous SNV DOCK3:NM_004947:exon41:c.C4239T:p.C1413C Score=623;Name=lod=455 ID=COSM271221;OCCURENCE=1(large_intestine) 240 44 0.155 297 0 0.000 3.31897079873313797e-15 0.295 --- 237,199,38,0.160 252,251,0,0.000 12.639 11.439 chr3 51749473 51749473 C T exonic GRM2 nonsynonymous SNV GRM2:NM_000839:exon4:c.C1684T:p.R562C Score=557;Name=lod=245 0 0.981466 C 1.0 D 0.976 D 0.999931 D 0.783072 NA 3.75 145 29 0.167 200 0 0.000 5.92718331241658564e-11 0.483 --- 154,128,26,0.169 169,169,0,0.000 8.887 60 chr3 52245362 52245362 G A exonic ALAS1 nonsynonymous SNV ALAS1:NM_199166:exon9:c.G1394A:p.R465Q,ALAS1:NM_000688:exon10:c.G1394A:p.R465Q Score=295;Name=lod=21 0.0082 0 0.999735 C 1.0 D 1.0 D 1.0 D 0.999916 D 5.51 165 34 0.171 183 0 0.000 5.58840664012816287e-11 0.618 --- 157,129,28,0.178 152,152,0,0.000 8.662 14.122 chr3 52256387 52256387 G T exonic TLR9 nonsynonymous SNV TLR9:NM_017442:exon2:c.C1945A:p.R649S 0.77 0.161425 N 0.46 T 0.0 B 0.611334 N 0.116305 NA 1.01 292 44 0.131 266 0 0.000 3.22017820670133069e-12 0.500 --- 284,246,38,0.134 233,232,0,0.000 10.234 11.306 chr3 52514216 52514216 G T exonic NISCH nonsynonymous SNV NISCH:NM_001276293:exon13:c.G1433T:p.R478L,NISCH:NM_001276294:exon13:c.G1433T:p.R478L,NISCH:NM_007184:exon13:c.G1433T:p.R478L Score=423;Name=lod=70 0.02 0.992309 C 0.98 D 0.999 D 0.999227 N 0.921755 D 3.98 95 23 0.195 146 0 0.000 2.44472218860221277e-09 0.696 --- 97,80,17,0.175 125,125,0,0.000 6.487 7.362 chr3 52545703 52545703 G A exonic STAB1 nonsynonymous SNV STAB1:NM_015136:exon26:c.G2825A:p.G942D Score=295;Name=lod=21 0 0.999601 C 1.0 D 0.998 D 1.0 D 0.792995 D 4.87 119 28 0.190 150 0 0.000 6.67721765219133877e-10 0.571 --- 115,96,19,0.165 123,123,0,0.000 6.365 60 chr3 52550236 52550236 G A exonic STAB1 nonsynonymous SNV STAB1:NM_015136:exon38:c.G4126A:p.G1376R Score=506;Name=lod=152 0 0.999056 C 1.0 D 0.998 D 1.0 D 0.893504 D 4.55 131 26 0.166 193 0 0.000 2.56441724957410423e-10 0.615 --- 161,131,30,0.186 192,192,0,0.000 10.930 9.303 chr3 52867761 52867761 C T exonic MUSTN1,TMEM110-MUSTN1 nonsynonymous SNV MUSTN1:NM_205853:exon2:c.G14A:p.G5D,TMEM110-MUSTN1:NM_001198974:exon9:c.G884A:p.G295D 0 236 31 0.116 256 0 0.000 4.48977805433036901e-10 0.226 --- 224,199,25,0.112 216,216,0,0.000 7.492 10.644 chr3 53853655 53853655 G T exonic CHDH nonsynonymous SNV CHDH:NM_018397:exon7:c.C1167A:p.S389R Score=493;Name=lod=134 0.01 0.999368 C 1.0 D 0.183 P 1.0 D 0.998809 D 4.87 147 27 0.155 200 0 0.000 3.31576499326884777e-10 0.407 --- 138,118,20,0.145 148,148,0,0.000 6.663 14.557 chr3 53910715 53910715 G T exonic ACTR8 nonsynonymous SNV ACTR8:NM_022899:exon6:c.C710A:p.P237H Score=651;Name=lod=589 0 0.994884 C 1.0 D 1.0 D 1.0 D 0.998352 D 5.1 51 7 0.121 56 0 0.000 0.0129436727036108293 0.286 --- 49,44,5,0.102 49,49,0,0.000 1.251 5.027 chr3 55984459 55984459 A G exonic ERC2 synonymous SNV ERC2:NM_015576:exon12:c.T2391C:p.H797H Score=459;Name=lod=98 116 28 0.194 148 0 0.000 5.80405409721275368e-10 0.536 --- 118,95,23,0.195 133,132,0,0.000 8.043 14.321 chr3 56779277 56779277 G A exonic ARHGEF3 nonsynonymous SNV ARHGEF3:NM_001128616:exon7:c.C844T:p.H282Y,ARHGEF3:NM_019555:exon7:c.C826T:p.H276Y,ARHGEF3:NM_001128615:exon10:c.C922T:p.H308Y Score=637;Name=lod=516 0.13 0.999825 C 0.81 T 0.955 D 1.0 D 0.985501 D 5.5 172 25 0.127 172 0 0.000 1.36802486168106763e-07 0.560 --- 151,133,18,0.119 140,140,0,0.000 5.262 11.023 chr3 57136522 57136522 G A exonic IL17RD nonsynonymous SNV IL17RD:NM_017563:exon10:c.C964T:p.R322C Score=570;Name=lod=276 0.000077 rs139956045 0 41 11 0.212 80 0 0.000 1.74526067009225991e-05 0.636 --- 35,28,7,0.200 57,57,0,0.000 3.115 8.29 chr3 57391563 57391563 G A exonic DNAH12 synonymous SNV DNAH12:NM_178504:exon41:c.C6336T:p.A2112A 170 40 0.190 230 0 0.000 1.65848159458625191e-14 0.425 --- 169,140,29,0.172 182,182,0,0.000 9.796 60 chr3 58382879 58382879 C A exonic PXK synonymous SNV PXK:NM_017771:exon10:c.C936A:p.G312G Score=374;Name=lod=44 132 17 0.114 166 0 0.000 1.78587731881667687e-06 0.412 --- 131,116,15,0.115 130,130,0,0.000 4.399 6.78 chr3 58635059 58635059 G A exonic FAM3D nonsynonymous SNV FAM3D:NM_138805:exon4:c.C128T:p.S43L 0.000077 rs149077834 0.28 0.100686 N 0.68 T 0.0010 B 1.7E-5 N 2.68E-4 N -3.76 139 30 0.178 146 0 0.000 2.79514470229509804e-09 0.400 --- 149,118,29,0.197 128,126,0,0.000 8.299 9.215 chr3 64587692 64587692 A T exonic ADAMTS9 synonymous SNV ADAMTS9:NM_182920:exon26:c.T3945A:p.R1315R 168 40 0.192 209 0 0.000 1.03184841394926809e-13 0.550 --- 167,139,28,0.168 173,172,0,0.000 9.154 60 chr3 64627624 64627624 C T exonic ADAMTS9 nonsynonymous SNV ADAMTS9:NM_182920:exon12:c.G1756A:p.V586M 0.000077 rs143018191 0.08 0.976774 C 0.88 T 0.14 B 0.821508 N 0.017114 N 1.55 156 35 0.183 169 0 0.000 6.6432230754969061e-11 0.457 --- 147,120,26,0.178 133,133,0,0.000 7.790 13.925 chr3 69075171 69075171 T A exonic TMF1 synonymous SNV TMF1:NM_007114:exon14:c.A2835T:p.G945G Score=450;Name=lod=90 71 17 0.193 83 0 0.000 7.23444038473627272e-06 0.588 --- 69,57,12,0.174 63,63,0,0.000 3.483 13.639 chr3 69105783 69105783 T A exonic UBA3 nonsynonymous SNV UBA3:NM_198195:exon13:c.A1021T:p.T341S,UBA3:NM_003968:exon14:c.A1063T:p.T355S Score=650;Name=lod=584 0.03 0.99829 C 0.98 D 0.0010 B 1.0 D 0.93385 D 5.48 88 17 0.162 140 0 0.000 2.49194139243544143e-07 0.529 --- 90,76,14,0.156 118,117,1,0.008 4.384 8.859 chr3 69168078 69168078 C T exonic LMOD3 synonymous SNV LMOD3:NM_198271:exon2:c.G1428A:p.P476P 0.000160 146 25 0.146 173 0 0.000 9.95064735601252346e-09 0.400 --- 157,134,23,0.146 151,151,0,0.000 6.961 11.049 chr3 69239046 69239046 C T splicing FRMD4B NM_015123:exon19:c.1771+1G>A Score=556;Name=lod=242 32 6 0.158 44 0 0.000 0.00788401506215646382 1.000 --- 27,21,6,0.222 36,36,0,0.000 2.361 5.54 chr3 71804200 71804200 A C exonic GPR27 nonsynonymous SNV GPR27:NM_018971:exon1:c.A1000C:p.N334H Score=666;Name=lod=677 0 0.996276 C 1.0 D 0.973 D 1.0 U 0.976162 D 4.26 125 27 0.178 175 0 0.000 2.68811044028308711e-10 1.000 --- 157,117,40,0.255 141,141,0,0.000 12.153 15.353 chr3 71804201 71804201 A C exonic GPR27 nonsynonymous SNV GPR27:NM_018971:exon1:c.A1001C:p.N334T Score=666;Name=lod=677 0 0.996276 C 1.0 D 0.973 D 1.0 U 0.993125 D 4.26 120 27 0.184 170 0 0.000 2.38904646855234595e-10 1.000 --- 158,118,40,0.253 143,142,0,0.000 12.146 14.492 chr3 72427579 72427579 G A exonic RYBP nonsynonymous SNV RYBP:NM_012234:exon4:c.C614T:p.T205M Score=410;Name=lod=62 0 162 41 0.202 189 0 0.000 2.26967181419847637e-13 0.561 --- 173,140,33,0.191 158,158,0,0.000 9.984 14.593 chr3 74351880 74351880 C T exonic CNTN3 nonsynonymous SNV CNTN3:NM_020872:exon13:c.G1747A:p.V583M Score=387;Name=lod=50 0.01 0.998756 C 0.99 D 0.502 P 0.999997 D 0.464146 N 5.16 67 10 0.130 82 0 0.000 0.000514556351265351409 0.800 --- 60,50,10,0.167 66,66,0,0.000 3.407 9.936 chr3 78666808 78666808 C T exonic ROBO1 nonsynonymous SNV ROBO1:NM_001145845:exon25:c.G3959A:p.R1320Q,ROBO1:NM_133631:exon25:c.G4124A:p.R1375Q,ROBO1:NM_002941:exon27:c.G4259A:p.R1420Q 0.1 163 27 0.142 190 2 0.010 3.23859920696452897e-07 0.741 0.500 170,145,24,0.142 159,157,1,0.006 6.044 10.109 chr3 78676581 78676581 A G exonic ROBO1 synonymous SNV ROBO1:NM_001145845:exon24:c.T3465C:p.Y1155Y,ROBO1:NM_133631:exon24:c.T3630C:p.Y1210Y,ROBO1:NM_002941:exon26:c.T3765C:p.Y1255Y Score=516;Name=lod=166 159 30 0.159 204 0 0.000 7.92924196271605893e-11 0.667 --- 172,142,29,0.170 167,167,0,0.000 8.971 11.823 chr3 88205460 88205460 T C exonic C3orf38 nonsynonymous SNV C3orf38:NM_173824:exon3:c.T665C:p.L222P Score=383;Name=lod=48 0.05 0.998121 C 0.98 D 0.0010 B 1.0 D 0.998568 D 5.38 186 28 0.131 191 0 0.000 7.40333491393968377e-09 0.607 --- 177,156,21,0.119 163,163,0,0.000 6.152 14.176 chr3 97590985 97590985 C G exonic CRYBG3 nonsynonymous SNV CRYBG3:NM_153605:exon4:c.C947G:p.S316C 0.1 84 13 0.134 115 0 0.000 2.4177763517711228e-05 0.462 --- 91,78,13,0.143 107,107,0,0.000 4.605 8.457 chr3 97868350 97868350 G A exonic OR5H14 nonsynonymous SNV OR5H14:NM_001005514:exon1:c.G121A:p.G41R Score=0.899197;Name=chr3:97909060 0 0.987207 C 1.0 D 0.982 D 0.999783 D 2.0E-6 N 2.16 157 20 0.113 222 0 0.000 4.63389960341727959e-08 0.450 --- 156,140,16,0.103 191,190,0,0.000 5.728 10.814 chr3 98531290 98531290 G A exonic DCBLD2 nonsynonymous SNV DCBLD2:NM_080927:exon10:c.C1249T:p.R417C Score=681;Name=lod=784 0.000084 0 97 20 0.171 141 0 0.000 5.14580044840024903e-08 0.250 --- 96,79,17,0.177 123,123,0,0.000 6.466 10.73 chr3 99513232 99513232 C T exonic COL8A1 nonsynonymous SNV COL8A1:NM_020351:exon4:c.C487T:p.P163S,COL8A1:NM_001850:exon5:c.C487T:p.P163S Score=563;Name=lod=260 0.09 0.998732 C 0.85 T 0.700183 NA 1.0 D 0.977124 D 5.13 129 22 0.146 200 0 0.000 3.42139319962018407e-09 0.682 --- 136,116,20,0.147 181,181,0,0.000 7.723 11.612 chr3 99514576 99514576 C T exonic COL8A1 nonsynonymous SNV COL8A1:NM_020351:exon4:c.C1831T:p.P611S,COL8A1:NM_001850:exon5:c.C1831T:p.P611S 0.91 0.998617 C 0.42 T 0.03 B 0.919074 N 0.229164 N 3.79 218 25 0.103 217 0 0.000 6.6957743271795162e-08 0.560 --- 204,181,23,0.113 178,178,0,0.000 6.517 12.608 chr3 100378533 100378533 T C exonic GPR128 nonsynonymous SNV GPR128:NM_032787:exon14:c.T1825C:p.C609R Score=401;Name=lod=57 0 0.997482 C 1.0 D 1.0 D 0.999999 D 0.824576 D 5.07 72 11 0.133 118 0 0.000 3.93472098727626788e-05 0.727 --- 73,65,8,0.110 93,93,0,0.000 2.952 9.033 chr3 107885774 107885774 C T exonic IFT57 nonsynonymous SNV IFT57:NM_018010:exon8:c.G908A:p.R303Q Score=603;Name=lod=378 0 0.998991 C 1.0 D 0.999 D 1.0 D 0.999989 D 5.35 76 12 0.136 89 0 0.000 0.000152322689438183767 0.750 --- 77,66,11,0.143 75,75,0,0.000 3.175 9.108 chr3 111688552 111688552 C T exonic PHLDB2 nonsynonymous SNV PHLDB2:NM_145753:exon15:c.C3202T:p.R1068C,PHLDB2:NM_001134437:exon16:c.C3283T:p.R1095C,PHLDB2:NM_001134438:exon16:c.C3331T:p.R1111C,PHLDB2:NM_001134439:exon16:c.C3331T:p.R1111C Score=552;Name=lod=234 0.000154 0.0005 rs146545101 0.02 0.998868 C 0.95 T 0.568 P 1.0 D 0.999852 D 5.24 81 18 0.182 129 0 0.000 1.15652278983292136e-07 0.778 --- 92,75,17,0.185 107,107,0,0.000 6.075 9.292 chr3 112267408 112267408 G A exonic ATG3 synonymous SNV ATG3:NM_022488:exon5:c.C315T:p.G105G 90 14 0.135 131 0 0.000 6.56749170790818194e-06 0.786 --- 89,76,13,0.146 104,103,0,0.000 4.560 8.463 chr3 112358259 112358259 C T exonic CCDC80 nonsynonymous SNV CCDC80:NM_199511:exon2:c.G494A:p.R165H,CCDC80:NM_199512:exon2:c.G494A:p.R165H Score=596;Name=lod=354 0 0.99882 C 0.99 D 0.545 P 1.0 D 0.996562 D 5.2 145 40 0.216 193 0 0.000 3.45880010606229713e-14 0.425 --- 162,124,38,0.235 167,166,0,0.000 12.723 12.076 chr3 113010477 113010477 C T exonic WDR52 nonsynonymous SNV WDR52:NM_001164496:exon35:c.G5492A:p.R1831H Score=333;Name=lod=30 0.02 173 27 0.135 254 0 0.000 8.54129037029477722e-11 0.519 --- 157,137,20,0.127 196,196,0,0.000 7.348 6.964 chr3 113122751 113122751 A G exonic WDR52 nonsynonymous SNV WDR52:NM_001164496:exon9:c.T1118C:p.I373T,WDR52:NM_018338:exon9:c.T1118C:p.I373T Score=468;Name=lod=106 0.01 0.998278 C 0.97 D 0.993 D 0.898218 NA 0.119256 N 4.45 190 41 0.177 237 0 0.000 3.7266652926211623e-14 0.512 --- 187,156,31,0.166 193,193,0,0.000 10.144 12.935 chr3 113723500 113723500 C T exonic KIAA1407 synonymous SNV KIAA1407:NM_020817:exon11:c.G1962A:p.P654P 0.000538 0.0005 rs115137198 119 23 0.162 172 0 0.000 4.10789191846870941e-09 0.261 --- 124,101,22,0.179 139,139,0,0.000 7.699 9.935 chr3 119153617 119153617 G A exonic TMEM39A nonsynonymous SNV TMEM39A:NM_018266:exon8:c.C1225T:p.R409C Score=676;Name=lod=744 0 0.999563 C 1.0 D 1.0 D 0.999998 D 0.999997 D 4.61 141 31 0.180 183 0 0.000 3.80007742189607154e-11 0.548 --- 142,118,24,0.169 144,144,0,0.000 7.762 12.624 chr3 120369693 120369693 C A exonic HGD nonsynonymous SNV HGD:NM_000187:exon6:c.G362T:p.G121V Score=611;Name=lod=405 0.01 0.998005 C 0.98 D 0.609 P 1.0 D 1.0 D 4.72 50 10 0.167 73 0 0.000 0.000223436496301107537 0.300 --- 48,40,8,0.167 60,60,0,0.000 2.970 6.29 chr3 121207935 121207935 C T exonic POLQ synonymous SNV POLQ:NM_199420:exon16:c.G3843A:p.Q1281Q 93 13 0.123 79 0 0.000 0.00069661032962557686 0.615 --- 89,79,10,0.112 74,74,0,0.000 2.676 10.766 chr3 123166803 123166803 G A exonic ADCY5 nonsynonymous SNV ADCY5:NM_183357:exon1:c.C590T:p.A197V Score=716;Name=lod=1080 0 0.065913 N 0.77 T 0.0060 B 0.507867 N 0.098949 NA -0.813 112 30 0.211 143 0 0.000 1.50250790136510843e-10 0.200 --- 119,93,26,0.218 122,122,0,0.000 8.642 15.955 chr3 123348459 123348459 G A exonic MYLK nonsynonymous SNV MYLK:NM_053026:exon29:c.C4769T:p.S1590F,MYLK:NM_053025:exon30:c.C4976T:p.S1659F Score=383;Name=lod=48 0 0.999793 C 1.0 D 1.0 D 1.0 NA 0.999948 D 5.18 99 26 0.208 177 0 0.000 2.02162671601501197e-11 0.346 --- 111,88,23,0.207 144,144,0,0.000 8.928 7.112 chr3 123953786 123953786 C T exonic KALRN nonsynonymous SNV KALRN:NM_001024660:exon3:c.C253T:p.P85S,KALRN:NM_003947:exon3:c.C253T:p.P85S Score=458;Name=lod=97 0.01 0.998747 C 0.96 D 0.998 D 1.0 D 0.050739 N 5.14 82 14 0.146 108 0 0.000 1.52290081146674805e-05 0.429 --- 75,67,8,0.107 81,81,0,0.000 2.633 9.685 chr3 126722230 126722230 G A exonic PLXNA1 nonsynonymous SNV PLXNA1:NM_032242:exon3:c.G1435A:p.V479M Score=628;Name=lod=476 0.13 0.998651 C 0.92 T 0.0050 B 0.526643 N 0.988369 D 3.96 110 39 0.262 194 0 0.000 3.01202666084727821e-16 0.564 --- 127,95,32,0.252 159,158,0,0.000 12.305 60 chr3 126730877 126730877 G A exonic PLXNA1 nonsynonymous SNV PLXNA1:NM_032242:exon9:c.G2189A:p.R730Q Score=437;Name=lod=80 0.000077 0.07 0.997557 C 0.76 T 0.01 B 0.860528 U 0.287651 N 2.21 145 25 0.147 178 0 0.000 6.29676626939161524e-09 0.520 --- 140,120,19,0.137 140,140,0,0.000 6.037 9.726 chr3 126733177 126733177 C T exonic PLXNA1 nonsynonymous SNV PLXNA1:NM_032242:exon11:c.C2563T:p.R855C Score=443;Name=lod=84 0.000079 0 0.995334 C 0.98 D 0.534 P 0.957177 N 0.007426 N 2.86 164 27 0.141 208 0 0.000 8.21533904600897242e-10 0.556 --- 164,141,23,0.140 180,180,0,0.000 7.776 8.753 chr3 128181453 128181453 G A exonic DNAJB8 synonymous SNV DNAJB8:NM_153330:exon3:c.C636T:p.D212D Score=500;Name=lod=144 0.000077 231 35 0.132 263 0 0.000 1.78421637177434018e-11 0.429 --- 225,193,32,0.142 216,216,0,0.000 9.762 13.523 chr3 128618293 128618293 G A exonic ACAD9 nonsynonymous SNV ACAD9:NM_014049:exon7:c.G797A:p.R266Q Score=554;Name=lod=239 0.01 0.999392 C 0.97 D 0.976 D 0.999992 D 0.99981 D 4.89 140 22 0.136 217 0 0.000 3.16576524019170222e-09 0.545 --- 139,122,17,0.122 175,174,0,0.000 6.244 8.267 chr3 128706561 128706561 A G exonic KIAA1257 synonymous SNV KIAA1257:NM_020741:exon4:c.T565C:p.L189L 99 13 0.116 128 0 0.000 3.3602436732505918e-05 0.462 --- 94,83,11,0.117 94,94,0,0.000 3.145 10.756 chr3 129202420 129202420 C A exonic IFT122 synonymous SNV IFT122:NM_052990:exon12:c.C1413A:p.T471T,IFT122:NM_018262:exon14:c.C1569A:p.T523T,IFT122:NM_052989:exon15:c.C1746A:p.T582T,IFT122:NM_052985:exon16:c.C1899A:p.T633T Score=553;Name=lod=236 Score=0.920082;Name=chr3:128579282 133 23 0.147 156 0 0.000 9.94075862528491154e-08 0.478 --- 134,113,21,0.157 124,122,1,0.008 5.154 10.293 chr3 129268144 129268144 G A exonic H1FOO nonsynonymous SNV H1FOO:NM_153833:exon3:c.G679A:p.A227T 0.17 0.933477 N 1.0 D 0.0070 B 0.001615 N 0.462289 N 1.48 203 35 0.147 197 0 0.000 3.95142377781329537e-10 0.514 --- 202,174,28,0.139 170,169,0,0.000 7.718 7.678 chr3 130120637 130120637 C T exonic COL6A5 nonsynonymous SNV COL6A5:NM_153264:exon12:c.C4166T:p.T1389I 79 9 0.102 90 0 0.000 0.00141955663246840085 0.667 --- 73,64,9,0.123 71,71,0,0.000 2.520 5.948 chr3 130150615 130150615 G A exonic COL6A5 nonsynonymous SNV COL6A5:NM_153264:exon33:c.G5555A:p.R1852H Score=429;Name=lod=74 112 24 0.176 170 0 0.000 1.0297750561222896e-09 0.542 --- 123,102,21,0.171 139,138,0,0.000 7.289 7.706 chr3 130284156 130284156 G A exonic COL6A6 nonsynonymous SNV COL6A6:NM_001102608:exon3:c.G980A:p.R327Q Score=358;Name=lod=38 0.0005 rs182466724 0 173 35 0.168 197 0 0.000 1.8277738203152796e-11 0.486 --- 166,139,27,0.163 164,164,0,0.000 8.323 9.221 chr3 130743384 130743384 A C exonic ASTE1 nonsynonymous SNV ASTE1:NM_014065:exon3:c.T767G:p.I256S Score=393;Name=lod=53 0 0.998629 C 0.89 T 0.338 P 0.998598 N 0.107623 N 5.19 179 22 0.109 256 0 0.000 7.19910083485976784e-09 0.500 --- 170,151,19,0.112 214,212,1,0.005 5.875 9.19 chr3 130889704 130889704 G A exonic NEK11 nonsynonymous SNV NEK11:NM_001146003:exon13:c.G1372A:p.D458N,NEK11:NM_024800:exon14:c.G1372A:p.D458N,NEK11:NM_145910:exon14:c.G1372A:p.D458N 0.07 0.999747 C 1.0 D 0.293 P 0.997589 N 0.097211 N 5.21 51 11 0.177 96 0 0.000 1.89089041191458885e-05 0.455 --- 47,39,8,0.170 67,67,0,0.000 3.243 11.762 chr3 131415442 131415442 A T exonic CPNE4 nonsynonymous SNV CPNE4:NM_130808:exon5:c.T451A:p.S151T Score=582;Name=lod=308 0.15 0.99873 C 0.6 T 0.0 B 1.0 D 0.999224 D 5.26 67 10 0.130 111 0 0.000 9.20743176846144393e-05 0.400 --- 56,47,9,0.161 84,84,0,0.000 3.762 10.486 chr3 136287682 136287682 C T exonic STAG1 nonsynonymous SNV STAG1:NM_005862:exon5:c.G319A:p.E107K Score=683;Name=lod=794 0 0.979537 C 0.99 D 0.992 D 1.0 N 0.998306 D 4.22 58 18 0.237 94 0 0.000 1.44939140077671547e-07 0.444 --- 66,52,13,0.200 75,74,0,0.000 4.598 7.527 chr3 139172009 139172009 C A splicing RBP2 NM_004164:exon5:c.355-1G>T Score=455;Name=lod=94 111 20 0.153 128 0 0.000 8.8782696408043214e-07 0.500 --- 105,88,17,0.162 103,103,0,0.000 5.119 13.455 chr3 141161266 141161266 C T exonic ZBTB38 synonymous SNV ZBTB38:NM_001080412:exon8:c.C36T:p.D12D Score=567;Name=lod=269 ID=COSM205448;OCCURENCE=1(large_intestine) 118 18 0.132 101 0 0.000 2.97211713460287246e-05 0.722 --- 115,100,15,0.130 86,86,0,0.000 3.730 9.111 chr3 142840525 142840525 G A exonic CHST2 synonymous SNV CHST2:NM_004267:exon2:c.G867A:p.A289A Score=558;Name=lod=246 232 53 0.186 326 0 0.000 1.63390839738639882e-19 0.472 --- 249,203,46,0.185 286,286,0,0.000 16.340 11.147 chr3 147128527 147128527 G A exonic ZIC1 nonsynonymous SNV ZIC1:NM_003412:exon1:c.G628A:p.A210T Score=868;Name=lod=4493 0.09 0.997376 C 0.9 T 0.0 B 0.999984 D 0.999871 D 3.26 301 53 0.150 382 0 0.000 1.60281902081742329e-18 0.509 --- 312,266,46,0.147 333,333,0,0.000 15.311 60 chr3 148889985 148889985 C T exonic HPS3 synonymous SNV HPS3:NM_032383:exon17:c.C2991T:p.C997C Score=391;Name=lod=52 63 14 0.182 77 0 0.000 6.38106259300086222e-05 0.429 --- 64,52,12,0.188 67,66,0,0.000 3.943 8.324 chr3 150908596 150908596 G A exonic MED12L nonsynonymous SNV MED12L:NM_053002:exon13:c.G1846A:p.A616T Score=472;Name=lod=110 ID=COSM206435;OCCURENCE=1(large_intestine) 0.13 0.993961 C 0.86 T 0.17 P 0.999938 N 0.963689 D 4.34 125 19 0.132 171 0 0.000 1.74644638215749125e-07 0.579 --- 123,108,15,0.122 147,147,0,0.000 5.336 11.613 chr3 150916665 150916665 T C exonic GPR171 nonsynonymous SNV GPR171:NM_013308:exon3:c.A509G:p.K170R 0.48 0.037929 N 0.8 T 0.0 B 0.711376 N 0.146506 N -4.47 89 24 0.212 94 0 0.000 1.78383506313446782e-07 0.583 --- 99,78,21,0.212 87,87,0,0.000 6.214 60 chr3 150916773 150916773 A T exonic GPR171 nonsynonymous SNV GPR171:NM_013308:exon3:c.T401A:p.I134K Score=433;Name=lod=77 0.01 0.998839 C 0.99 D 0.895 D 0.996728 N 1.0 D 5.35 84 31 0.270 131 0 0.000 4.82936657067151632e-12 0.516 --- 95,71,24,0.253 104,104,0,0.000 8.460 60 chr3 151154578 151154578 C T exonic IGSF10 nonsynonymous SNV IGSF10:NM_001178145:exon2:c.G1852A:p.V618I,IGSF10:NM_001178146:exon2:c.G1708A:p.V570I,IGSF10:NM_178822:exon6:c.G7771A:p.V2591I 0.49 0.828221 N 0.88 T 0.0010 B 0.944006 N 0.099409 N 0.514 119 29 0.196 136 0 0.000 1.53207026002848956e-09 0.586 --- 122,98,24,0.197 115,115,0,0.000 7.369 8.865 chr3 151176462 151176462 C T exonic IGSF10 synonymous SNV IGSF10:NM_178822:exon1:c.G36A:p.L12L Score=243;Name=lod=13 92 15 0.140 140 0 0.000 1.9579290674733827e-06 0.333 --- 92,78,14,0.152 123,123,0,0.000 5.426 9.676 chr3 152150553 152150553 C T exonic MBNL1 synonymous SNV MBNL1:NM_207293:exon3:c.C393T:p.A131A,MBNL1:NM_207296:exon3:c.C393T:p.A131A,MBNL1:NM_207297:exon3:c.C393T:p.A131A,MBNL1:NM_021038:exon4:c.C393T:p.A131A,MBNL1:NM_207292:exon4:c.C393T:p.A131A Score=673;Name=lod=726 0.000077 rs148220180 120 23 0.161 124 0 0.000 4.55133070062443646e-07 0.522 --- 115,98,17,0.148 101,101,0,0.000 4.875 10.437 chr3 154002774 154002774 G A exonic DHX36 synonymous SNV DHX36:NM_001114397:exon18:c.C1992T:p.N664N,DHX36:NM_020865:exon18:c.C2034T:p.N678N Score=507;Name=lod=154 0.008765 0.01 rs114098462 100 12 0.107 129 0 0.000 7.27987728911866803e-05 0.333 --- 96,86,10,0.104 109,109,0,0.000 3.409 5.423 chr3 154146630 154146630 G T exonic GPR149 nonsynonymous SNV GPR149:NM_001038705:exon1:c.C775A:p.P259T 0.18 0.763968 N 0.95 T 0.079 B 0.974908 N 0.089452 N -2.31 165 27 0.141 198 0 0.000 1.80800227434767432e-09 0.519 --- 165,141,24,0.145 164,164,0,0.000 7.315 11.182 chr3 156763200 156763200 A C exonic LEKR1 nonsynonymous SNV LEKR1:NM_001004316:exon13:c.A1740C:p.Q580H Score=463;Name=lod=102 0.01 0.876982 N 0.99 D 0.985 D 0.994928 N 0.76333 NA 1.09 105 17 0.139 144 0 0.000 9.21192523380741105e-07 0.588 --- 101,86,15,0.149 113,113,0,0.000 5.148 13.647 chr3 157177960 157177960 C T exonic VEPH1 nonsynonymous SNV VEPH1:NM_001167916:exon4:c.G539A:p.R180Q,VEPH1:NM_001167915:exon5:c.G539A:p.R180Q 0.000154 145 32 0.181 222 0 0.000 9.16811441317053224e-13 0.500 --- 155,127,28,0.181 185,185,0,0.000 10.184 60 chr3 160231881 160231881 A G exonic KPNA4 nonsynonymous SNV KPNA4:NM_002268:exon13:c.T1121C:p.I374T Score=685;Name=lod=812 0 0.998041 C 1.0 D 0.997 D 1.0 D 0.999998 D 4.85 61 15 0.197 86 0 0.000 5.21768274442443532e-06 0.600 --- 57,46,11,0.193 66,66,0,0.000 3.922 9.412 chr3 164908367 164908367 C T exonic SLITRK3 synonymous SNV SLITRK3:NM_014926:exon2:c.G252A:p.L84L Score=564;Name=lod=261 108 14 0.115 131 0 0.000 2.44240045094845504e-05 0.429 --- 106,94,12,0.113 115,115,0,0.000 3.978 7.358 chr3 167000194 167000194 G A exonic ZBBX stopgain ZBBX:NM_001199202:exon19:c.C1882T:p.R628X,ZBBX:NM_024687:exon19:c.C1969T:p.R657X,ZBBX:NM_001199201:exon20:c.C2086T:p.R696X 1 0.946053 N 0.909136 NA 0.622035 NA 0.406125 N 1.0 A 0.652 98 24 0.197 126 0 0.000 1.12899292418368767e-08 0.417 --- 96,76,20,0.208 106,106,0,0.000 6.964 15.654 chr3 169540526 169540526 C A exonic LRRIQ4 nonsynonymous SNV LRRIQ4:NM_001080460:exon1:c.C817A:p.P273T Score=313;Name=lod=25 0 232 28 0.108 255 0 0.000 3.56695378789284062e-09 0.393 --- 223,200,23,0.103 207,206,1,0.005 5.635 11.486 chr3 169546603 169546603 T C exonic LRRIQ4 synonymous SNV LRRIQ4:NM_001080460:exon2:c.T1077C:p.N359N Score=321;Name=lod=27 95 11 0.104 108 0 0.000 0.000334294559234316003 0.636 --- 89,78,10,0.114 83,83,0,0.000 2.812 7.675 chr3 170846577 170846577 T C exonic TNIK nonsynonymous SNV TNIK:NM_001161561:exon15:c.A1612G:p.R538G,TNIK:NM_001161562:exon15:c.A1612G:p.R538G,TNIK:NM_001161560:exon16:c.A1699G:p.R567G,TNIK:NM_015028:exon16:c.A1699G:p.R567G Score=329;Name=lod=29 0.02 201 47 0.190 298 0 0.000 5.65786441262211479e-18 0.660 --- 219,175,44,0.201 242,242,0,0.000 15.317 14.097 chr3 178921567 178921567 A G exonic PIK3CA nonsynonymous SNV PIK3CA:NM_006218:exon5:c.A1049G:p.D350G Score=577;Name=lod=294 ID=COSM271786,COSM271785;OCCURENCE=1(breast),1(pancreas),1(large_intestine) 0.02 0.99867 C 0.850569 NA 0.481 P 1.0 D 0.998995 D 5.24 60 16 0.211 93 0 0.000 1.06493419023170535e-06 0.375 --- 68,56,12,0.176 80,80,0,0.000 4.302 6.48 chr3 178952085 178952085 A G exonic PIK3CA nonsynonymous SNV PIK3CA:NM_006218:exon21:c.A3140G:p.H1047R Score=779;Name=lod=1951 ID=COSM94986,COSM775;OCCURENCE=71(ovary),1(bone),962(breast),8(NS),3(haematopoietic_and_lymphoid_tissue),19(stomach),2(kidney),5(soft_tissue),27(urinary_tract),4(pancreas),3(liver),3(oesophagus),2(pituitary),5(skin),2(prostate),13(lung),3(cervix),8(thyroid),1(meninges),18(upper_aerodigestive_tract),213(large_intestine),14(central_nervous_system),121(endometrium) 0.025 rs121913279 0.06 0.999213 C 0.0 T 0.995 D 1.0 D 0.999923 D 5.73 88 20 0.185 110 0 0.000 2.98536893496585957e-07 0.350 --- 88,72,16,0.182 91,91,0,0.000 5.264 60 chr3 180705810 180705810 C T splicing DNAJC19 NM_001190233:exon4:c.54+1G>A,NM_145261:exon4:c.129+1G>A Score=613;Name=lod=415 100 25 0.200 178 0 0.000 5.1378675542393404e-11 0.640 --- 107,84,22,0.208 148,148,0,0.000 8.961 13.654 chr3 182740247 182740247 C T exonic MCCC1 synonymous SNV MCCC1:NM_020166:exon16:c.G1827A:p.A609A 87 19 0.179 147 0 0.000 2.38310700148037001e-08 0.474 --- 83,68,15,0.181 113,112,0,0.000 5.909 14.142 chr3 183014942 183014942 C T exonic MCF2L2 nonsynonymous SNV MCF2L2:NM_015078:exon12:c.G1319A:p.C440Y Score=488;Name=lod=128 0.03 0.998321 C 1.0 D 0.902 D 1.0 D 0.837541 D 4.35 83 17 0.170 116 0 0.000 9.30831547666454058e-07 0.294 --- 88,73,15,0.170 98,98,0,0.000 5.173 7.094 chr3 183390221 183390221 C T exonic KLHL24 synonymous SNV KLHL24:NM_017644:exon7:c.C1551T:p.Y517Y Score=632;Name=lod=492 81 18 0.182 120 0 0.000 2.45826529229978868e-07 0.222 --- 77,63,14,0.182 97,97,0,0.000 5.270 11.673 chr3 183508696 183508696 A G exonic YEATS2 nonsynonymous SNV YEATS2:NM_018023:exon21:c.A3025G:p.T1009A ID=COSM1233012;OCCURENCE=1(large_intestine) 0.43 0.172175 N 0.671264 NA 0.0030 B 0.621674 N 8.45E-4 N -2.14 201 36 0.152 248 0 0.000 1.46494537019032884e-12 0.528 --- 180,154,26,0.144 194,194,0,0.000 8.695 14.632 chr3 183521893 183521893 G A exonic YEATS2 nonsynonymous SNV YEATS2:NM_018023:exon27:c.G3701A:p.G1234D Score=437;Name=lod=80 0 0.999659 C 0.903729 NA 0.735236 NA 1.0 D 0.999097 D 5.32 184 33 0.152 230 0 0.000 1.13528552882941949e-11 0.545 --- 172,143,29,0.169 182,179,1,0.006 8.310 12.101 chr3 183896709 183896709 G A exonic AP2M1 nonsynonymous SNV AP2M1:NM_001025205:exon3:c.G139A:p.V47I Score=752;Name=lod=1518 ID=COSM1421283;OCCURENCE=1(large_intestine) 0.4 0.999766 C 0.08 T 0.018 B 1.0 D 0.999677 D 5.08 188 49 0.207 229 0 0.000 3.09126908068671243e-16 0.531 --- 197,154,43,0.218 189,189,0,0.000 13.603 13.837 chr3 183959382 183959382 G A exonic VWA5B2 synonymous SNV VWA5B2:NM_138345:exon19:c.G3285A:p.V1095V 230 56 0.196 260 0 0.000 1.30761611045265744e-17 0.464 --- 241,193,48,0.199 220,220,0,0.000 14.423 14.75 chr3 184024253 184024253 G T exonic PSMD2 nonsynonymous SNV PSMD2:NM_002808:exon15:c.G1920T:p.K640N Score=537;Name=lod=203 0.04 0.996137 C 0.95 T 0.205 P 0.999999 D 0.998137 D 4.38 142 22 0.134 211 0 0.000 5.37419075448247696e-09 0.409 --- 142,127,15,0.106 175,175,0,0.000 5.418 6.325 chr3 184646242 184646242 C A exonic VPS8 nonsynonymous SNV VPS8:NM_001009921:exon31:c.C2635A:p.L879I,VPS8:NM_015303:exon31:c.C2629A:p.L877I Score=583;Name=lod=311 0 112 21 0.158 140 2 0.014 1.08932231415277525e-05 0.619 0.500 108,93,15,0.139 120,119,1,0.008 4.023 6.569 chr3 186459413 186459413 G A exonic KNG1 nonsynonymous SNV KNG1:NM_001102416:exon10:c.G1228A:p.A410T 0.91 0.933324 N 0.47 T 0.0 B 0.573581 N 0.004824 N 2.51 121 14 0.104 134 0 0.000 8.5597748896496482e-05 0.714 --- 117,104,13,0.111 121,121,0,0.000 4.165 10.166 chr3 190165592 190165592 C T exonic TMEM207 nonsynonymous SNV TMEM207:NM_207316:exon2:c.G100A:p.E34K Score=461;Name=lod=100 rs139237923 0 0.999305 C 1.0 D 0.866 D 0.99903 N 0.016315 N 5.7 86 15 0.149 120 0 0.000 4.31663390122394516e-06 0.333 --- 77,67,10,0.130 95,95,0,0.000 3.640 10.746 chr3 194117925 194117925 C T exonic GP5 nonsynonymous SNV GP5:NM_004488:exon2:c.G1087A:p.G363S 0.71 0.066676 N 0.47 T 0.013 B 0.84941 N 0.293474 N -7.67 108 21 0.163 154 0 0.000 2.61505129785871094e-08 0.667 --- 120,102,18,0.150 133,133,0,0.000 6.145 11.017 chr3 194407776 194407776 A G exonic FAM43A nonsynonymous SNV FAM43A:NM_153690:exon1:c.A221G:p.Y74C Score=610;Name=lod=401 0 0.997972 C 1.0 D 0.999 D 1.0 D 0.999997 D 4.81 314 40 0.113 302 2 0.007 1.87795446548747259e-09 0.550 0.500 308,273,34,0.111 265,264,1,0.004 8.276 6.904 chr3 194408374 194408374 G T exonic FAM43A nonsynonymous SNV FAM43A:NM_153690:exon1:c.G819T:p.E273D Score=243;Name=lod=13 0.24 0.980003 C 0.35 T 0.651 P 0.886013 NA 0.022717 N 1.86 288 35 0.108 281 0 0.000 1.5628529929970866e-10 0.486 --- 278,249,29,0.104 230,230,0,0.000 7.847 7.309 chr3 195300827 195300827 A T exonic APOD nonsynonymous SNV APOD:NM_001647:exon3:c.T139A:p.Y47N Score=451;Name=lod=91 0.01 0.980726 C 1.0 D 1.0 D 0.999985 D 0.999998 D 4.05 123 39 0.241 149 0 0.000 7.55417956296219128e-13 0.308 --- 130,97,33,0.254 115,115,0,0.000 9.864 15.109 chr3 196533500 196533500 T G exonic PAK2 nonsynonymous SNV PAK2:NM_002577:exon6:c.T519G:p.D173E Score=425;Name=lod=71 0.51 0.097492 N 0.0 T 0.0 B 0.999484 N 0.939167 D -0.0757 54 15 0.217 77 0 0.000 5.34461704669604167e-06 0.600 --- 55,43,12,0.218 61,61,0,0.000 4.195 9.025 chr3 196675163 196675163 C T exonic PIGZ nonsynonymous SNV PIGZ:NM_025163:exon3:c.G605A:p.R202H rs201040664 0.794425 N 0.83 T 0.188 P 0.131815 N 0.071331 NA -1.92 209 43 0.171 233 0 0.000 9.23184704286908627e-14 0.512 --- 214,174,39,0.183 204,203,0,0.000 12.099 60 chr3 196678759 196678759 C T exonic PIGZ stopgain PIGZ:NM_025163:exon2:c.G144A:p.W48X Score=401;Name=lod=57 ID=COSM1220560;OCCURENCE=1(large_intestine) 0.997612 C 0.864564 NA 0.641561 NA 0.999891 D 0.68428 NA 4.22 156 20 0.114 218 0 0.000 5.32255661606002273e-08 0.450 --- 147,129,18,0.122 173,173,0,0.000 6.341 9.473 chr3 196736499 196736499 G A exonic MFI2 synonymous SNV MFI2:NM_005929:exon11:c.C1515T:p.D505D Score=395;Name=lod=54 140 18 0.114 162 0 0.000 1.80995906682025481e-06 0.889 --- 135,118,16,0.119 126,126,0,0.000 4.676 6.928 chr3 197241170 197241170 G A exonic BDH1 nonsynonymous SNV BDH1:NM_004051:exon6:c.C527T:p.T176M,BDH1:NM_203315:exon6:c.C527T:p.T176M,BDH1:NM_203314:exon7:c.C527T:p.T176M Score=410;Name=lod=62 0 0.999421 C 1.0 D 1.0 D 1.0 D 0.999385 D 4.59 175 26 0.129 210 0 0.000 3.46743832381694007e-09 0.577 --- 155,138,17,0.110 161,161,0,0.000 5.464 11.198 chr4 677412 677412 C T exonic MFSD7 nonsynonymous SNV MFSD7:NM_032219:exon7:c.G979A:p.V327M 0.01 0.973639 C 0.98 D 0.047 B 0.999971 D 0.109604 N 1.75 99 32 0.244 125 0 0.000 6.98482807912218085e-11 0.344 --- 119,88,31,0.261 114,114,0,0.000 9.918 13.742 chr4 1720328 1720328 C T exonic TMEM129 synonymous SNV TMEM129:NM_001127266:exon2:c.G231A:p.A77A,TMEM129:NM_138385:exon2:c.G231A:p.A77A Score=505;Name=lod=151 142 28 0.165 159 0 0.000 3.27291608008848031e-09 0.286 --- 162,137,25,0.154 146,146,0,0.000 7.364 5.414 chr4 1729780 1729780 G A exonic TACC3 synonymous SNV TACC3:NM_006342:exon4:c.G651A:p.P217P 222 35 0.136 252 0 0.000 1.77012632299468247e-11 0.571 --- 222,195,27,0.122 212,212,0,0.000 8.116 14.913 chr4 1730164 1730164 C T exonic TACC3 synonymous SNV TACC3:NM_006342:exon4:c.C1035T:p.G345G 0.003921 0.0018 ID=COSM1053227;OCCURENCE=1(endometrium) rs142409115 199 46 0.188 236 0 0.000 3.87656822813642841e-15 0.413 --- 208,169,39,0.188 201,201,0,0.000 12.203 60 chr4 1801218 1801218 G A exonic FGFR3 nonsynonymous SNV FGFR3:NM_000142:exon3:c.G347A:p.R116H,FGFR3:NM_001163213:exon3:c.G347A:p.R116H,FGFR3:NM_022965:exon3:c.G347A:p.R116H 0.11 0.770929 N 0.93 T 0.285 P 0.773831 N 0.007321 N -1.34 178 45 0.202 240 0 0.000 4.08901262406536144e-16 0.356 --- 194,156,38,0.196 197,197,0,0.000 12.445 11.635 chr4 1821161 1821161 G A exonic LETM1 synonymous SNV LETM1:NM_012318:exon11:c.C1647T:p.S549S Score=492;Name=lod=133 84 16 0.160 112 0 0.000 3.0219891650329061e-06 0.250 --- 84,70,14,0.167 93,93,0,0.000 4.800 6.328 chr4 1920189 1920189 G A exonic WHSC1 nonsynonymous SNV WHSC1:NM_133334:exon4:c.G1249A:p.D417N,WHSC1:NM_001042424:exon5:c.G1249A:p.D417N,WHSC1:NM_133335:exon5:c.G1249A:p.D417N,WHSC1:NM_133331:exon6:c.G1249A:p.D417N,WHSC1:NM_007331:exon7:c.G1249A:p.D417N,WHSC1:NM_133330:exon7:c.G1249A:p.D417N 0.34 0.991816 C 0.56 T 0.0 B 0.971152 N 0.001535 N 4.1 136 31 0.186 213 0 0.000 1.53721706191466862e-12 0.484 --- 148,119,28,0.190 172,172,0,0.000 10.085 15.654 chr4 2065565 2065565 C T exonic NAT8L nonsynonymous SNV NAT8L:NM_178557:exon3:c.C620T:p.T207M Score=573;Name=lod=284 0.04 0.998812 C 0.91 T 0.965 D 0.995625 U 0.988686 D 5.19 204 39 0.160 244 1 0.004 6.7265026233738642e-12 0.590 1.000 210,176,34,0.162 210,209,1,0.005 9.275 13.029 chr4 2306870 2306870 G A exonic ZFYVE28 synonymous SNV ZFYVE28:NM_001172656:exon7:c.C1107T:p.R369R,ZFYVE28:NM_001172659:exon8:c.C987T:p.R329R,ZFYVE28:NM_020972:exon8:c.C1197T:p.R399R Score=489;Name=lod=129 0.0009 rs201700352 264 60 0.185 360 0 0.000 1.42715612328045748e-21 0.517 --- 289,229,60,0.208 318,317,0,0.000 20.846 15.654 chr4 3156090 3156090 C T exonic HTT nonsynonymous SNV HTT:NM_002111:exon27:c.C3569T:p.P1190L 0.03 0.97394 C 0.8 T 0.374 P 0.999175 N 0.248028 N 3.59 97 11 0.102 126 0 0.000 0.000151782372154383727 0.455 --- 87,77,9,0.105 97,97,0,0.000 3.053 5.906 chr4 6349668 6349668 G T exonic PPP2R2C nonsynonymous SNV PPP2R2C:NM_181876:exon6:c.C695A:p.P232Q,PPP2R2C:NM_001206994:exon7:c.C674A:p.P225Q,PPP2R2C:NM_001206995:exon7:c.C674A:p.P225Q,PPP2R2C:NM_001206996:exon7:c.C644A:p.P215Q Score=661;Name=lod=647 0 0.999469 C 1.0 D 0.998 D 1.0 D 0.999836 D 4.47 141 38 0.212 184 0 0.000 2.31498182610349315e-13 0.421 --- 137,110,27,0.197 146,146,0,0.000 9.143 60 chr4 6599985 6599985 A C exonic MAN2B2 nonsynonymous SNV MAN2B2:NM_015274:exon9:c.A1309C:p.T437P Score=300;Name=lod=22 0.05 0.982663 C 0.84 T 0.047 B 0.741545 N 0.002054 N 2.12 105 33 0.239 152 0 0.000 2.33817431220154942e-12 0.515 --- 110,84,26,0.236 122,122,0,0.000 9.190 60 chr4 6865862 6865862 G T exonic KIAA0232 nonsynonymous SNV KIAA0232:NM_001100590:exon6:c.G3753T:p.Q1251H,KIAA0232:NM_014743:exon7:c.G3753T:p.Q1251H Score=515;Name=lod=165 0.1 0.999629 C 0.73637 NA 0.0010 B 0.994382 N 0.768695 D 5.27 137 17 0.110 178 0 0.000 1.29245965711291486e-06 0.471 --- 131,115,16,0.122 140,140,0,0.000 5.270 6.585 chr4 8229755 8229755 G A exonic SH3TC1 synonymous SNV SH3TC1:NM_018986:exon12:c.G2334A:p.P778P 232 49 0.174 313 0 0.000 1.05463284445932242e-17 0.673 --- 240,196,44,0.183 268,268,0,0.000 15.322 13.291 chr4 8304217 8304217 G A exonic HTRA3 nonsynonymous SNV HTRA3:NM_053044:exon7:c.G1079A:p.R360Q Score=540;Name=lod=209 0.21 0.995159 C 0.86 T 0.908 D 0.999963 D 0.999498 D 3.01 68 14 0.171 97 0 0.000 9.31498794233773001e-06 0.571 --- 69,57,12,0.174 74,74,0,0.000 4.032 8.548 chr4 8582979 8582979 G A exonic GPR78 synonymous SNV GPR78:NM_080819:exon1:c.G270A:p.A90A Score=591;Name=lod=337 160 22 0.121 148 0 0.000 1.40476510018200459e-06 0.545 --- 160,140,20,0.125 130,130,0,0.000 5.283 8.083 chr4 8605862 8605862 G A exonic CPZ nonsynonymous SNV CPZ:NM_003652:exon3:c.G623A:p.G208D,CPZ:NM_001014447:exon4:c.G656A:p.G219D,CPZ:NM_001014448:exon4:c.G245A:p.G82D Score=581;Name=lod=307 ID=COSM1431506;OCCURENCE=1(large_intestine) 0 0.998046 C 0.99 D 0.998 D 1.0 D 0.98394 D 3.51 180 31 0.147 237 0 0.000 2.07798430655111748e-11 0.452 --- 178,151,27,0.152 194,194,0,0.000 9.126 6.607 chr4 8873108 8873108 C T exonic HMX1 nonsynonymous SNV HMX1:NM_018942:exon1:c.G233A:p.G78D 0 26 6 0.188 25 0 0.000 0.0298524161483446488 0.333 --- 31,25,6,0.194 23,23,0,0.000 1.489 3.004 chr4 10492210 10492210 C T exonic CLNK nonsynonymous SNV CLNK:NM_052964:exon19:c.G1168A:p.E390K Score=444;Name=lod=85 ID=COSM260143,COSM260144;OCCURENCE=1(large_intestine) 0.06 71 14 0.165 93 0 0.000 1.74631348854742016e-05 0.286 --- 69,58,11,0.159 75,75,0,0.000 3.710 7.309 chr4 16035035 16035035 C T exonic PROM1 nonsynonymous SNV PROM1:NM_001145851:exon3:c.G374A:p.R125H,PROM1:NM_001145852:exon3:c.G374A:p.R125H,PROM1:NM_001145847:exon4:c.G374A:p.R125H,PROM1:NM_001145848:exon4:c.G374A:p.R125H,PROM1:NM_001145849:exon4:c.G401A:p.R134H,PROM1:NM_001145850:exon4:c.G401A:p.R134H,PROM1:NM_006017:exon4:c.G401A:p.R134H Score=582;Name=lod=308 0 121 31 0.204 154 0 0.000 6.84253352189454112e-11 0.548 --- 121,95,26,0.215 123,122,0,0.000 8.529 60 chr4 17625346 17625346 C T exonic MED28 synonymous SNV MED28:NM_025205:exon4:c.C462T:p.A154A 0.000077 149 20 0.118 183 0 0.000 2.27798420742293012e-07 0.500 --- 144,126,18,0.125 149,149,0,0.000 5.803 9.26 chr4 17910903 17910903 G A exonic LCORL nonsynonymous SNV LCORL:NM_001166139:exon5:c.C496T:p.R166C,LCORL:NM_153686:exon5:c.C496T:p.R166C Score=716;Name=lod=1088 0 0.999601 C 1.0 D 0.998 D 0.999973 D 0.960658 D 5.2 66 12 0.154 74 0 0.000 0.000321473315561138506 0.500 --- 67,57,10,0.149 70,68,0,0.000 3.201 8.529 chr4 24801188 24801188 C A exonic SOD3 synonymous SNV SOD3:NM_003102:exon2:c.C45A:p.A15A 181 24 0.117 207 0 0.000 2.58680035911637827e-08 0.542 --- 171,151,20,0.117 169,169,0,0.000 5.974 6.602 chr4 26490998 26490998 G A exonic CCKAR nonsynonymous SNV CCKAR:NM_000730:exon2:c.C221T:p.T74M Score=527;Name=lod=185 0 0.999413 C 1.0 D 1.0 D 1.0 D 0.987235 D 4.89 105 21 0.167 145 0 0.000 3.92795385788233143e-08 0.476 --- 113,93,20,0.177 118,118,0,0.000 6.619 60 chr4 37445867 37445867 C T exonic KIAA1239 nonsynonymous SNV KIAA1239:NM_001144990:exon7:c.C2257T:p.R753C Score=531;Name=lod=191 rs202105367 0.03 156 32 0.170 220 1 0.005 6.58634785352455569e-11 0.500 1.000 148,122,26,0.176 188,187,1,0.005 8.616 14.808 chr4 38775750 38775750 T C exonic TLR10 nonsynonymous SNV TLR10:NM_001017388:exon2:c.A1462G:p.S488G,TLR10:NM_001195106:exon3:c.A1462G:p.S488G,TLR10:NM_001195107:exon3:c.A1462G:p.S488G,TLR10:NM_001195108:exon3:c.A1420G:p.S474G,TLR10:NM_030956:exon4:c.A1462G:p.S488G 0.01 0.874983 N 0.99 D 0.053 B 0.878029 N 0.009729 N 0.607 154 28 0.154 189 0 0.000 6.95298926908717778e-10 0.464 --- 154,130,24,0.156 158,158,0,0.000 7.786 13.834 chr4 39779335 39779335 G T exonic UBE2K nonsynonymous SNV UBE2K:NM_001111113:exon4:c.G280T:p.A94S,UBE2K:NM_005339:exon6:c.G433T:p.A145S Score=713;Name=lod=1051 0 0.999732 C 1.0 D 0.994 D 1.0 D 3.3E-5 N 5.5 87 13 0.130 98 0 0.000 0.000161735019322312008 0.538 --- 78,68,10,0.128 75,75,0,0.000 2.837 8.546 chr4 40123562 40123562 C T exonic N4BP2 synonymous SNV N4BP2:NM_018177:exon9:c.C3831T:p.N1277N 84 19 0.184 97 0 0.000 1.76929836819375505e-06 0.474 --- 88,71,17,0.193 86,86,0,0.000 5.183 9.355 chr4 41270052 41270052 G A exonic UCHL1 nonsynonymous SNV UCHL1:NM_004181:exon9:c.G634A:p.V212I Score=555;Name=lod=241 0.02 0.999648 C 0.97 D 0.018 B 0.99992 D 0.999871 D 4.77 105 15 0.125 111 0 0.000 4.45254653669193349e-05 0.400 --- 89,78,11,0.124 83,83,0,0.000 3.126 7.484 chr4 41683071 41683071 A T exonic LIMCH1 nonsynonymous SNV LIMCH1:NM_001112720:exon14:c.A2059T:p.T687S,LIMCH1:NM_001112719:exon15:c.A2095T:p.T699S,LIMCH1:NM_001112717:exon20:c.A2560T:p.T854S,LIMCH1:NM_001112718:exon20:c.A2557T:p.T853S,LIMCH1:NM_014988:exon20:c.A2560T:p.T854S 0.35 0.835574 N 0.37 T 0.28 P 0.930792 N 0.100654 N 0.789 37 16 0.302 59 0 0.000 1.55990946220612328e-06 0.438 --- 40,29,11,0.275 45,45,0,0.000 3.965 60 chr4 46060576 46060576 G T exonic GABRG1 nonsynonymous SNV GABRG1:NM_173536:exon6:c.C689A:p.P230H Score=565;Name=lod=263 0.03 0.999723 C 0.9 T 0.83 P 0.999962 D 0.790911 D 5.48 98 21 0.176 106 0 0.000 6.65512532683538195e-07 0.476 --- 99,82,17,0.172 85,85,0,0.000 4.853 13.972 chr4 47655673 47655673 G A exonic CORIN synonymous SNV CORIN:NM_006587:exon13:c.C1740T:p.C580C Score=517;Name=lod=168 96 19 0.165 127 1 0.008 4.65729651772014079e-06 0.316 0.000 87,72,15,0.172 102,101,1,0.010 4.147 11.87 chr4 48140725 48140725 G A exonic TEC nonsynonymous SNV TEC:NM_003215:exon17:c.C1769T:p.A590V Score=352;Name=lod=36 0 0.999687 C 0.99 D 0.993 D 1.0 D 0.987663 D 5.38 163 21 0.114 211 0 0.000 5.65533756785190049e-08 0.667 --- 151,132,19,0.126 159,159,0,0.000 6.204 6.571 chr4 48492681 48492681 C T exonic ZAR1 nonsynonymous SNV ZAR1:NM_175619:exon1:c.C373T:p.R125C Score=480;Name=lod=119 0 0.77511 N 1.0 D 1.0 D 0.999999 U 0.912168 D -0.217 191 36 0.159 255 0 0.000 3.4338961662078119e-13 0.500 --- 195,164,31,0.159 220,220,0,0.000 10.764 5.933 chr4 48542464 48542464 A G exonic FRYL synonymous SNV FRYL:NM_015030:exon46:c.T6201C:p.F2067F Score=461;Name=lod=100 ID=COSM1291917;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) 109 17 0.135 137 0 0.000 2.02209390005867969e-06 0.471 --- 104,88,16,0.154 113,113,0,0.000 5.393 10.952 chr4 48853884 48853884 T C exonic OCIAD1 nonsynonymous SNV OCIAD1:NM_001079839:exon7:c.T439C:p.S147P,OCIAD1:NM_001079840:exon7:c.T439C:p.S147P,OCIAD1:NM_001079841:exon7:c.T439C:p.S147P,OCIAD1:NM_001079842:exon7:c.T439C:p.S147P,OCIAD1:NM_001168254:exon7:c.T454C:p.S152P,OCIAD1:NM_017830:exon7:c.T439C:p.S147P Score=313;Name=lod=25 0.06 0.95554 C 0.89 T 0.0 B 0.849875 N 0.791258 D 2.57 53 15 0.221 69 0 0.000 1.14283787496887278e-05 0.600 --- 53,41,12,0.226 59,59,0,0.000 4.219 15.955 chr4 55593436 55593436 C T exonic KIT synonymous SNV KIT:NM_000222:exon10:c.C1593T:p.I531I,KIT:NM_001093772:exon10:c.C1581T:p.I527I 118 16 0.119 95 0 0.000 0.000250662913284693395 0.625 --- 111,99,12,0.108 82,82,0,0.000 2.848 9.291 chr4 56309919 56309919 T C exonic CLOCK nonsynonymous SNV CLOCK:NM_004898:exon20:c.A1837G:p.T613A,CLOCK:NM_001267843:exon21:c.A1837G:p.T613A Score=553;Name=lod=235 0.38 0.24602 N 0.92 T 0.0020 B 0.947495 N 0.063649 N 0.535 114 26 0.186 134 0 0.000 9.60964517565750547e-09 0.500 --- 117,97,20,0.171 108,108,0,0.000 5.981 13.31 chr4 56818362 56818362 C T exonic CEP135 synonymous SNV CEP135:NM_025009:exon2:c.C66T:p.R22R Score=610;Name=lod=403 52 9 0.148 57 0 0.000 0.00294583808339155054 0.556 --- 45,39,6,0.133 49,48,0,0.000 1.971 7.817 chr4 56890671 56890671 C T exonic CEP135 stopgain CEP135:NM_025009:exon25:c.C3325T:p.R1109X Score=487;Name=lod=127 1 0.998926 C 0.903782 NA 0.735383 NA 1.0 D 1.0 A 5.3 40 12 0.231 48 0 0.000 0.000262797419232185128 0.667 --- 43,33,10,0.233 43,43,0,0.000 2.965 6.77 chr4 57182133 57182133 G A exonic KIAA1211 nonsynonymous SNV KIAA1211:NM_020722:exon8:c.G2465A:p.S822N 0.27 0.999575 C 0.99 D 0.075 B 0.835436 NA 0.011434 N 4.62 165 27 0.141 247 0 0.000 6.6652014976646084e-11 0.704 --- 174,148,26,0.149 224,224,0,0.000 9.834 60 chr4 57796600 57796600 G A exonic REST nonsynonymous SNV REST:NM_001193508:exon4:c.G1576A:p.D526N,REST:NM_005612:exon4:c.G1576A:p.D526N 0.03 0.992773 C 0.91 T 0.246 P 0.993442 N 2.18E-4 N 4.51 91 31 0.254 126 0 0.000 3.05816616505426255e-11 0.710 --- 104,79,25,0.240 114,114,0,0.000 8.779 9.99 chr4 57843510 57843510 G A exonic NOA1 nonsynonymous SNV NOA1:NM_032313:exon1:c.C242T:p.P81L Score=300;Name=lod=22 0.01 0.97949 C 1.0 D 0.881 D 0.95676 N 0.973159 D 3.17 183 28 0.133 210 0 0.000 2.85576952911488145e-09 0.536 --- 188,162,26,0.138 199,199,0,0.000 8.567 14.331 chr4 66361170 66361170 G T exonic EPHA5 synonymous SNV EPHA5:NM_004439:exon4:c.C1002A:p.T334T,EPHA5:NM_182472:exon4:c.C1002A:p.T334T Score=725;Name=lod=1175 101 19 0.158 160 0 0.000 4.22997949048082072e-08 0.421 --- 96,79,17,0.177 126,125,1,0.008 5.512 10.396 chr4 69203301 69203301 C A exonic YTHDC1 nonsynonymous SNV YTHDC1:NM_001031732:exon3:c.G448T:p.D150Y,YTHDC1:NM_133370:exon3:c.G448T:p.D150Y Score=500;Name=lod=143 0 0.998545 C 1.0 D 0.995 D 0.999979 D 0.856862 D 5.02 124 23 0.156 223 0 0.000 1.96798422724893352e-10 0.391 --- 132,110,22,0.167 189,189,0,0.000 8.976 10.589 chr4 69693185 69693185 G A exonic UGT2B10 nonsynonymous SNV UGT2B10:NM_001075:exon5:c.G1226A:p.G409E,UGT2B10:NM_001144767:exon5:c.G974A:p.G325E Score=397;Name=lod=55 Score=0.955185;Name=chr4:69870294 0 404 64 0.137 496 0 0.000 7.62063126134335043e-22 0.516 --- 372,321,51,0.137 393,392,1,0.003 15.202 60 chr4 71255469 71255469 A T exonic SMR3B synonymous SNV SMR3B:NM_006685:exon3:c.A144T:p.P48P 114 38 0.250 193 0 0.000 1.56324991365779798e-15 0.605 --- 124,97,27,0.218 159,159,0,0.000 10.447 60 chr4 72363242 72363242 G A exonic SLC4A4 nonsynonymous SNV SLC4A4:NM_003759:exon13:c.G1867A:p.A623T,SLC4A4:NM_001098484:exon16:c.G1999A:p.A667T,SLC4A4:NM_001134742:exon16:c.G1999A:p.A667T Score=441;Name=lod=83 0.2 0.97049 C 0.61 T 0.0030 B 0.975993 N 0.684775 D 3.4 75 23 0.235 120 0 0.000 2.07764847599733571e-09 0.652 --- 84,67,17,0.202 98,98,0,0.000 6.128 9.823 chr4 72423436 72423436 A G exonic SLC4A4 nonsynonymous SNV SLC4A4:NM_003759:exon19:c.A2639G:p.D880G,SLC4A4:NM_001098484:exon22:c.A2771G:p.D924G,SLC4A4:NM_001134742:exon22:c.A2771G:p.D924G Score=639;Name=lod=529 0 0.999094 C 0.99 D 0.999 D 1.0 D 0.999995 D 5.6 63 16 0.203 114 0 0.000 2.30698600350444932e-07 0.562 --- 66,53,13,0.197 94,94,0,0.000 5.331 10.625 chr4 72622566 72622566 A T exonic GC stopgain GC:NM_000583:exon8:c.T897A:p.C299X,GC:NM_001204306:exon9:c.T897A:p.C299X,GC:NM_001204307:exon9:c.T954A:p.C318X Score=389;Name=lod=51 0 0.135822 N 0.834836 NA 0.593432 NA 1.0 D 1.0 P -1.41 51 12 0.190 81 0 0.000 2.57521967940369276e-05 0.250 --- 52,41,11,0.212 55,55,0,0.000 3.710 11.891 chr4 74308081 74308081 G A exonic AFP nonsynonymous SNV AFP:NM_001134:exon5:c.G551A:p.R184H ID=COSM1540863;OCCURENCE=1(lung) 0.28 0.135198 N 0.87 T 0.0030 B 0.712827 N 0.011616 N -2.13 113 30 0.210 167 0 0.000 1.33747358934249151e-11 0.600 --- 114,89,25,0.219 130,130,0,0.000 8.944 60 chr4 74719814 74719814 T A exonic PF4V1 nonsynonymous SNV PF4V1:NM_002620:exon3:c.T290A:p.I97N 0 0.961896 C 1.0 D 0.991 D 0.999249 N 0.703402 D 2.66 75 18 0.194 128 0 0.000 6.00491028295076397e-08 0.222 --- 83,65,18,0.217 106,106,0,0.000 6.934 13.384 chr4 76797597 76797597 C T exonic PPEF2 nonsynonymous SNV PPEF2:NM_006239:exon11:c.G1163A:p.R388Q 0.001307 0.0009 rs140029551 0.2 0.043248 N 0.69 T 0.752 P 0.024108 U 0.03243 N -8.42 205 46 0.183 235 0 0.000 7.2411898626118542e-15 0.522 --- 211,172,38,0.181 200,200,0,0.000 11.769 12.964 chr4 78873756 78873756 G A exonic MRPL1 nonsynonymous SNV MRPL1:NM_020236:exon9:c.G973A:p.A325T 0 0.901606 N 1.0 D 0.14 B 0.348014 N 0.277241 N 1.65 60 8 0.118 83 0 0.000 0.00133157667938440119 0.125 --- 54,47,7,0.130 63,63,0,0.000 2.447 5.061 chr4 79350380 79350380 G T exonic FRAS1 stopgain FRAS1:NM_001166133:exon36:c.G4843T:p.G1615X,FRAS1:NM_025074:exon36:c.G4843T:p.G1615X Score=374;Name=lod=44 0.01 100 25 0.200 148 0 0.000 7.81459246195255186e-10 0.440 --- 102,83,19,0.186 116,116,0,0.000 6.693 9.455 chr4 79420941 79420941 C T exonic FRAS1 nonsynonymous SNV FRAS1:NM_025074:exon61:c.C9182T:p.A3061V Score=284;Name=lod=19 ID=COSM1057918,COSM1057917;OCCURENCE=1(large_intestine) 0.11 115 28 0.196 187 0 0.000 1.29811293659816501e-11 0.464 --- 114,93,21,0.184 148,148,0,0.000 8.085 11.763 chr4 85648041 85648041 A G exonic WDFY3 synonymous SNV WDFY3:NM_014991:exon45:c.T7245C:p.P2415P Score=545;Name=lod=219 56 15 0.211 110 0 0.000 2.96186501917316347e-07 0.333 --- 58,46,12,0.207 93,93,0,0.000 5.322 7.176 chr4 85758237 85758237 C T exonic WDFY3 nonsynonymous SNV WDFY3:NM_014991:exon7:c.G421A:p.V141M Score=703;Name=lod=962 0 0.998921 C 0.99 D 0.813 P 0.999999 D 0.997601 D 5.29 131 17 0.115 136 0 0.000 1.17716482557503814e-05 0.294 --- 124,110,14,0.113 125,125,0,0.000 4.408 8.301 chr4 87028419 87028419 G A exonic MAPK10 nonsynonymous SNV MAPK10:NM_002753:exon5:c.C323T:p.A108V,MAPK10:NM_138980:exon5:c.C209T:p.A70V,MAPK10:NM_138982:exon5:c.C323T:p.A108V Score=635;Name=lod=509 0 0.999749 C 1.0 D 0.998 D 1.0 D 1.0 D 5.55 94 16 0.145 149 0 0.000 5.71612327370385756e-07 0.500 --- 92,76,16,0.174 123,123,0,0.000 6.251 13.854 chr4 87809014 87809014 G A exonic C4orf36 nonsynonymous SNV C4orf36:NM_144645:exon4:c.C253T:p.R85C Score=391;Name=lod=52 0 0.999697 C 1.0 D 0.928 D 0.999989 D 0.69394 D 4.32 82 21 0.204 108 0 0.000 9.03151473679097187e-08 0.381 --- 90,73,17,0.189 94,94,0,0.000 5.649 15.654 chr4 89326044 89326044 G A exonic HERC6 nonsynonymous SNV HERC6:NM_001165136:exon9:c.G1109A:p.R370H,HERC6:NM_017912:exon9:c.G1109A:p.R370H 0.000084 0.55 93 25 0.212 144 0 0.000 4.60720467502149235e-10 0.680 --- 105,82,22,0.212 113,113,0,0.000 7.588 12.553 chr4 89649790 89649790 C T exonic FAM13A nonsynonymous SNV FAM13A:NM_001265580:exon16:c.G1904A:p.R635H,FAM13A:NM_001265578:exon17:c.G1946A:p.R649H,FAM13A:NM_001265579:exon17:c.G1904A:p.R635H,FAM13A:NM_001015045:exon18:c.G1988A:p.R663H,FAM13A:NM_014883:exon24:c.G2966A:p.R989H Score=514;Name=lod=163 ID=COSM1058860,COSM1206113;OCCURENCE=1(large_intestine) 0 0.998679 C 1.0 D 1.0 D 1.0 D 0.999859 D 4.56 71 11 0.134 152 0 0.000 6.16067740239011175e-06 0.182 --- 74,64,10,0.135 122,122,0,0.000 4.405 5.254 chr4 89671758 89671758 C T exonic FAM13A nonsynonymous SNV FAM13A:NM_001265580:exon7:c.G695A:p.R232Q,FAM13A:NM_001265578:exon8:c.G737A:p.R246Q,FAM13A:NM_001015045:exon9:c.G779A:p.R260Q,FAM13A:NM_001265579:exon9:c.G779A:p.R260Q,FAM13A:NM_014883:exon15:c.G1757A:p.R586Q Score=395;Name=lod=54 ID=COSM198104;OCCURENCE=1(large_intestine) 0.7 0.069979 N 0.53 T 0.0010 B 0.884723 N 0.048046 N -2.72 113 16 0.124 151 0 0.000 2.41736997502203664e-06 0.312 --- 105,91,14,0.133 118,118,0,0.000 4.792 8.244 chr4 90034144 90034144 C T exonic TIGD2 nonsynonymous SNV TIGD2:NM_145715:exon1:c.C19T:p.R7C Score=461;Name=lod=100 0.0082 0 0.992309 C 1.0 D 1.0 D 0.999335 U 0.689281 D 2.96 99 16 0.139 116 0 0.000 8.11286526196624508e-06 0.875 --- 94,79,15,0.160 103,103,0,0.000 5.095 11.733 chr4 96141261 96141261 G A exonic UNC5C nonsynonymous SNV UNC5C:NM_003728:exon8:c.C1175T:p.A392V Score=446;Name=lod=87 1 0.999639 C 0.0 T 0.0 B 1.0 D 0.99999 D 5.28 143 16 0.101 228 0 0.000 4.13529975353014477e-07 0.625 --- 127,114,13,0.102 181,181,0,0.000 5.166 11.162 chr4 100443765 100443765 C T exonic C4orf17 nonsynonymous SNV C4orf17:NM_032149:exon3:c.C236T:p.A79V 0.16 0.898616 N 0.61 T 0.575 P 0.912306 N 0.012884 N 3.64 87 15 0.147 121 0 0.000 4.40151290232834068e-06 0.533 --- 79,64,15,0.190 96,96,0,0.000 5.529 5.956 chr4 105412832 105412832 C T exonic CXXC4 nonsynonymous SNV CXXC4:NM_025212:exon2:c.G128A:p.R43H Score=844;Name=lod=3581 0 117 25 0.176 159 1 0.006 5.28083338191838355e-08 0.480 0.000 111,91,20,0.180 117,116,1,0.009 5.533 14.375 chr4 106640381 106640381 G A exonic GSTCD synonymous SNV GSTCD:NM_001031720:exon3:c.G591A:p.R197R,GSTCD:NM_024751:exon3:c.G330A:p.R110R Score=429;Name=lod=74 107 17 0.137 169 0 0.000 2.27991972559387693e-07 0.588 --- 116,102,14,0.121 149,149,0,0.000 5.226 12.024 chr4 109767377 109767377 T A splicing COL25A1 NM_198721:exon28:c.1435-2A>T,NM_001256074:exon25:c.1354-2A>T,NM_032518:exon28:c.1435-2A>T Score=457;Name=lod=96 43 9 0.173 56 0 0.000 0.000940604201437378415 0.556 --- 41,33,7,0.175 50,50,0,0.000 2.603 9.332 chr4 110394252 110394252 T A exonic SEC24B nonsynonymous SNV SEC24B:NM_001042734:exon3:c.T970A:p.S324T,SEC24B:NM_006323:exon3:c.T970A:p.S324T 0.23 0.756236 N 0.95 T 0.449 P 0.680714 N 2.0E-6 N -0.976 106 13 0.109 122 0 0.000 7.30727173044816828e-05 0.385 --- 90,80,10,0.111 90,90,0,0.000 2.824 7.204 chr4 110612036 110612036 C T exonic CASP6 nonsynonymous SNV CASP6:NM_032992:exon3:c.G346A:p.D116N,CASP6:NM_001226:exon6:c.G613A:p.D205N Score=491;Name=lod=132 0 0.998724 C 1.0 D 0.837 P 1.0 D 0.999809 D 5.13 104 12 0.103 174 0 0.000 1.17273111965218456e-05 0.667 --- 96,85,11,0.115 142,142,0,0.000 4.494 7.189 chr4 110788879 110788879 G A exonic LRIT3 synonymous SNV LRIT3:NM_198506:exon3:c.G672A:p.V224V Score=397;Name=lod=55 111 25 0.184 166 0 0.000 5.76149792364629708e-10 0.720 --- 115,92,23,0.200 139,138,0,0.000 8.453 14.632 chr4 110884456 110884456 T C splicing EGF NM_001963:exon9:c.1438+2T>C,NM_001178131:exon8:c.1312+2T>C,NM_001178130:exon9:c.1438+2T>C Score=352;Name=lod=36 116 20 0.147 159 0 0.000 8.3641096490779688e-08 0.450 --- 118,98,20,0.169 136,135,0,0.000 7.031 10.803 chr4 110902057 110902057 C T exonic EGF nonsynonymous SNV EGF:NM_001178131:exon14:c.C2171T:p.S724L,EGF:NM_001178130:exon15:c.C2297T:p.S766L,EGF:NM_001963:exon15:c.C2297T:p.S766L 0.000077 rs144595306 0.33 0.072272 N 0.51 T 0.0 B 0.906753 N 0.003585 N -1.44 133 33 0.199 181 0 0.000 4.30171154639452031e-12 0.515 --- 138,109,27,0.199 133,133,0,0.000 8.434 60 chr4 113483540 113483540 A T exonic C4orf21 nonsynonymous SNV C4orf21:NM_018392:exon18:c.T4684A:p.Y1562N 0.04 64 10 0.135 55 0 0.000 0.00495377587750168904 0.600 --- 52,45,7,0.135 41,40,1,0.024 1.133 8.057 chr4 114213598 114213598 C T exonic ANK2 synonymous SNV ANK2:NM_001148:exon21:c.C2304T:p.A768A,ANK2:NM_020977:exon21:c.C2304T:p.A768A,ANK2:NM_001127493:exon22:c.C2241T:p.A747A Score=459;Name=lod=98 137 29 0.175 221 0 0.000 4.76371978544157243e-12 0.655 --- 134,111,23,0.172 163,163,0,0.000 8.440 11.669 chr4 120440228 120440228 G A exonic PDE5A nonsynonymous SNV PDE5A:NM_001083:exon14:c.C1972T:p.R658C,PDE5A:NM_033430:exon14:c.C1846T:p.R616C,PDE5A:NM_033437:exon14:c.C1816T:p.R606C Score=423;Name=lod=70 0 0.999557 C 1.0 D 1.0 D 1.0 D 0.999723 D 3.94 73 10 0.120 105 0 0.000 0.000204153770408267984 0.600 --- 64,57,7,0.109 81,81,0,0.000 2.570 10.321 chr4 122774120 122774120 T A exonic BBS7 synonymous SNV BBS7:NM_018190:exon8:c.A840T:p.R280R,BBS7:NM_176824:exon8:c.A840T:p.R280R Score=489;Name=lod=129 97 20 0.171 130 0 0.000 1.27329893339568665e-07 0.650 --- 96,79,16,0.168 102,102,0,0.000 5.377 12.333 chr4 123091868 123091868 A G exonic KIAA1109 synonymous SNV KIAA1109:NM_015312:exon1:c.A66G:p.E22E Score=642;Name=lod=544 63 10 0.137 74 0 0.000 0.00065435845134065386 0.400 --- 63,53,10,0.159 64,64,0,0.000 3.214 6.583 chr4 123161382 123161382 G A exonic KIAA1109 stopgain KIAA1109:NM_015312:exon27:c.G4545A:p.W1515X Score=549;Name=lod=228 0 0.999706 C 0.903848 NA 0.73548 NA 0.99982 U 1.0 A 5.44 113 15 0.117 142 0 0.000 8.69292660643496457e-06 0.400 --- 110,97,12,0.110 123,123,0,0.000 4.084 7.703 chr4 128627914 128627914 A G exonic INTU synonymous SNV INTU:NM_015693:exon12:c.A2061G:p.A687A 114 25 0.180 159 0 0.000 1.48539623862457595e-09 0.560 --- 121,99,22,0.182 146,146,0,0.000 8.059 14.23 chr4 141315035 141315035 T G exonic CLGN nonsynonymous SNV CLGN:NM_004362:exon11:c.A1310C:p.D437A,CLGN:NM_001130675:exon12:c.A1310C:p.D437A Score=677;Name=lod=749 0.01 0.997612 C 0.96 D 0.98 D 1.0 D 0.997696 D 5.12 88 32 0.267 182 0 0.000 8.63626893179112335e-15 0.562 --- 101,77,24,0.238 155,155,0,0.000 10.502 14.142 chr4 141590820 141590820 G A exonic TBC1D9 nonsynonymous SNV TBC1D9:NM_015130:exon8:c.C1405T:p.R469W Score=525;Name=lod=182 0.02 129 21 0.140 202 0 0.000 7.03113296196780376e-09 0.524 --- 128,112,16,0.125 169,169,0,0.000 6.095 11.461 chr4 144359466 144359466 T C exonic GAB1 nonsynonymous SNV GAB1:NM_002039:exon4:c.T908C:p.V303A,GAB1:NM_207123:exon4:c.T908C:p.V303A 0.18 0.971883 C 0.89 T 0.0 B 0.997839 N 0.028625 N 4.45 102 13 0.113 142 0 0.000 1.9412596641407627e-05 0.231 --- 103,91,12,0.117 125,125,0,0.000 4.303 12.747 chr4 145580931 145580931 G T exonic HHIP stopgain HHIP:NM_022475:exon4:c.G772T:p.G258X Score=387;Name=lod=50 0.31 0.970895 C 0.901544 NA 0.73077 NA 0.99998 D 1.0 A 3.71 80 16 0.167 136 0 0.000 3.33923382095454441e-07 0.250 --- 78,64,14,0.179 118,118,0,0.000 5.935 12.442 chr4 147561368 147561368 T A exonic POU4F2 nonsynonymous SNV POU4F2:NM_004575:exon2:c.T638A:p.V213E Score=659;Name=lod=635 0.13 0.997465 C 0.93 T 0.177 P 0.982668 N 0.997901 D 5.04 384 90 0.190 508 0 0.000 2.70737839183605761e-31 0.422 --- 408,330,76,0.187 450,447,1,0.002 24.655 60 chr4 148743909 148743909 T C exonic ARHGAP10 synonymous SNV ARHGAP10:NM_024605:exon2:c.T186C:p.H62H Score=456;Name=lod=95 93 23 0.198 123 0 0.000 1.73411888394846868e-08 0.652 --- 99,79,20,0.202 103,103,0,0.000 6.666 60 chr4 152571293 152571293 C T exonic FAM160A1 synonymous SNV FAM160A1:NM_001109977:exon11:c.C2100T:p.D700D 169 26 0.133 229 0 0.000 6.47955543889542399e-10 0.577 --- 169,145,24,0.142 195,195,0,0.000 8.405 11.747 chr4 153249385 153249385 G A exonic FBXW7 nonsynonymous SNV FBXW7:NM_001013415:exon8:c.C1039T:p.R347C,FBXW7:NM_018315:exon8:c.C1153T:p.R385C,FBXW7:NM_033632:exon9:c.C1393T:p.R465C Score=531;Name=lod=192 ID=COSM170726,COSM1154293,COSM170725,COSM22932,COSM170727;OCCURENCE=6(stomach),31(haematopoietic_and_lymphoid_tissue),2(pancreas),1(oesophagus),17(large_intestine),4(biliary_tract),5(endometrium) 0.0082 0 0.999756 C 1.0 D 1.0 D 1.0 D 0.999996 D 5.58 92 16 0.148 126 0 0.000 2.22680303157213417e-06 0.562 --- 89,78,11,0.124 110,110,0,0.000 4.002 8.296 chr4 154525361 154525361 T C exonic KIAA0922 nonsynonymous SNV KIAA0922:NM_001131007:exon25:c.T3197C:p.V1066A,KIAA0922:NM_015196:exon25:c.T3194C:p.V1065A 0.1 0.199512 N 0.98 D 0.0060 B 0.90839 N 0.003946 N 1.02 121 29 0.193 140 0 0.000 1.29644298500445885e-09 0.517 --- 136,112,22,0.164 126,126,0,0.000 6.639 15.353 chr4 154557597 154557597 G A exonic KIAA0922 nonsynonymous SNV KIAA0922:NM_001131007:exon35:c.G4702A:p.V1568M,KIAA0922:NM_015196:exon35:c.G4699A:p.V1567M 0.000154 rs145882084 1 0.026913 N 0.98 D 0.0 B 0.981579 N 8.6E-5 N -4.31 177 45 0.203 197 0 0.000 4.30183848060616708e-14 0.467 --- 187,150,37,0.198 160,160,0,0.000 10.692 60 chr4 155411815 155411815 T A exonic DCHS2 synonymous SNV DCHS2:NM_001142552:exon1:c.A693T:p.L231L,DCHS2:NM_001142553:exon1:c.A693T:p.L231L 306 44 0.126 318 0 0.000 1.82860600196493716e-13 0.455 --- 310,271,39,0.126 282,282,0,0.000 11.191 10.468 chr4 155506693 155506693 T C exonic FGA nonsynonymous SNV FGA:NM_000508:exon5:c.A1888G:p.R630G,FGA:NM_021871:exon5:c.A1888G:p.R630G Score=445;Name=lod=86 0 0.998578 C 0.99 D 0.996 D 0.997454 N 0.017319 N 4.56 86 15 0.149 120 0 0.000 4.31663390122394516e-06 0.733 --- 86,73,13,0.151 106,105,0,0.000 4.738 9.752 chr4 155506926 155506926 C T exonic FGA nonsynonymous SNV FGA:NM_000508:exon5:c.G1655A:p.G552D,FGA:NM_021871:exon5:c.G1655A:p.G552D 1 0.047312 N 0.0 T 0.0020 B 1.0E-6 N 2.42E-4 N -3.71 141 19 0.119 141 0 0.000 3.86079231439859807e-06 0.421 --- 137,119,18,0.131 130,130,0,0.000 5.334 9.353 chr4 156717642 156717642 A G exonic GUCY1B3 nonsynonymous SNV GUCY1B3:NM_000857:exon8:c.A957G:p.I319M Score=381;Name=lod=47 0.74 69 9 0.115 75 0 0.000 0.00309149324028141485 0.556 --- 63,54,9,0.143 61,61,0,0.000 2.539 5.212 chr4 156721097 156721097 C T exonic GUCY1B3 nonsynonymous SNV GUCY1B3:NM_000857:exon9:c.C1046T:p.T349M Score=537;Name=lod=203 0 73 10 0.120 82 0 0.000 0.00146479793562063212 0.300 --- 67,58,9,0.134 66,66,0,0.000 2.533 6.276 chr4 159780222 159780222 A T exonic FNIP2 nonsynonymous SNV FNIP2:NM_020840:exon9:c.A871T:p.T291S Score=381;Name=lod=47 0.91 78 18 0.188 127 0 0.000 9.52700703534420134e-08 0.778 --- 89,73,16,0.180 106,106,0,0.000 5.799 14.423 chr4 165962318 165962318 G A exonic TRIM60 nonsynonymous SNV TRIM60:NM_152620:exon3:c.G1094A:p.G365D,TRIM60:NM_001258025:exon4:c.G1094A:p.G365D Score=278;Name=lod=18 0 0.996627 C 1.0 D 1.0 D 0.999591 U 0.598708 D 2.52 113 29 0.204 185 0 0.000 5.19752913125398933e-12 0.621 --- 120,94,26,0.217 159,159,0,0.000 10.275 60 chr4 170912792 170912792 G A exonic MFAP3L nonsynonymous SNV MFAP3L:NM_001009554:exon2:c.C658T:p.P220S,MFAP3L:NM_021647:exon3:c.C967T:p.P323S Score=378;Name=lod=46 0.06 0.999592 C 0.91 T 0.996 D 1.0 D 0.912804 D 5.18 205 34 0.142 326 0 0.000 4.62592438678522005e-14 0.559 --- 210,180,29,0.139 279,279,0,0.000 11.196 60 chr4 173873273 173873273 C T exonic GALNTL6 nonsynonymous SNV GALNTL6:NM_001034845:exon10:c.C1235T:p.T412M Score=502;Name=lod=146 0.11 0.998629 C 0.86 T 0.0020 B 0.999984 D 0.533821 NA 5.06 94 17 0.153 118 0 0.000 2.27515467659075775e-06 0.647 --- 90,73,17,0.189 94,94,0,0.000 5.649 11.376 chr4 177116632 177116632 G T exonic SPATA4 nonsynonymous SNV SPATA4:NM_144644:exon1:c.C82A:p.L28I 0.4 0.144867 N 0.67 T 0.068 B 0.273624 N 3.49E-4 N -3.51 180 37 0.171 236 0 0.000 2.60085031054956746e-13 0.459 --- 176,147,29,0.165 175,175,0,0.000 8.975 60 chr4 178257349 178257349 T C exonic NEIL3 synonymous SNV NEIL3:NM_018248:exon4:c.T501C:p.S167S Score=591;Name=lod=336 86 22 0.204 139 0 0.000 3.28815244087228526e-09 0.636 --- 85,67,18,0.212 105,105,0,0.000 6.769 14.574 chr4 183720901 183720901 C T exonic TENM3 synonymous SNV TENM3:NM_001080477:exon27:c.C7497T:p.G2499G Score=789;Name=lod=2149 166 19 0.103 190 0 0.000 9.02661595372763089e-07 0.421 --- 160,144,16,0.100 165,165,0,0.000 5.098 7.987 chr4 184426369 184426369 G A exonic ING2 synonymous SNV ING2:NM_001564:exon1:c.G21A:p.Q7Q Score=682;Name=lod=785 129 31 0.194 138 0 0.000 1.21622445011336686e-09 0.516 --- 142,114,28,0.197 114,114,0,0.000 7.433 11.826 chr4 186066044 186066044 C T exonic SLC25A4 nonsynonymous SNV SLC25A4:NM_001151:exon2:c.C238T:p.R80C Score=633;Name=lod=497 ID=COSM447666;OCCURENCE=1(breast) 0 0.999107 C 1.0 D 1.0 D 1.0 D 1.0 D 4.94 146 28 0.161 185 0 0.000 4.62002966431438304e-10 0.500 --- 149,124,25,0.168 160,160,0,0.000 8.413 10.409 chr4 186111588 186111588 C T exonic KIAA1430 nonsynonymous SNV KIAA1430:NM_020827:exon2:c.G763A:p.V255I Score=325;Name=lod=28 0.17 99 18 0.154 120 0 0.000 1.4819864509806438e-06 0.278 --- 98,82,16,0.163 105,104,0,0.000 5.323 11.803 chr4 186283778 186283778 C T exonic SNX25 synonymous SNV SNX25:NM_031953:exon18:c.C2355T:p.S785S Score=650;Name=lod=583 0.000077 rs150654028 67 9 0.118 84 0 0.000 0.0009459984867013157 0.556 --- 54,48,6,0.111 66,66,0,0.000 2.151 7.161 chr4 186294086 186294086 C T exonic LRP2BP nonsynonymous SNV LRP2BP:NM_018409:exon6:c.G727A:p.V243I Score=374;Name=lod=44 0.000077 0.0005 rs200032008 0.12 0.987867 C 0.795429 NA 0.328 P 0.999953 N 0.632848 D 4.66 115 22 0.161 168 0 0.000 8.24687974624564823e-09 0.455 --- 116,97,18,0.157 140,140,0,0.000 6.568 14.955 chr4 186379866 186379866 C T exonic CCDC110 synonymous SNV CCDC110:NM_001145411:exon5:c.G1764A:p.T588T,CCDC110:NM_152775:exon6:c.G1875A:p.T625T 0.003308 0.01 rs115853860 112 31 0.217 162 0 0.000 9.1741486885921403e-12 0.613 --- 124,99,25,0.202 142,138,0,0.000 8.736 8.655 chr4 187527280 187527280 C T exonic FAT1 nonsynonymous SNV FAT1:NM_005245:exon17:c.G10294A:p.D3432N Score=461;Name=lod=100 0 117 17 0.127 121 0 0.000 1.2288042015550856e-05 0.706 --- 105,92,13,0.124 102,102,0,0.000 3.779 4.432 chr4 187584756 187584756 T C exonic FAT1 nonsynonymous SNV FAT1:NM_005245:exon3:c.A3277G:p.T1093A Score=422;Name=lod=69 0.16 79 21 0.210 128 0 0.000 8.20918958028520859e-09 0.333 --- 81,65,16,0.198 104,104,0,0.000 6.138 15.654 chr5 192529 192529 C T exonic LRRC14B synonymous SNV LRRC14B:NM_001080478:exon1:c.C876T:p.T292T 0.000155 145 32 0.181 199 0 0.000 6.64253932489880951e-12 0.344 --- 154,124,29,0.190 176,176,0,0.000 10.322 11.017 chr5 840705 840705 G A exonic ZDHHC11 nonsynonymous SNV ZDHHC11:NM_024786:exon5:c.C689T:p.T230I Score=0.975225;Name=chr5:730525 0.09 0.868789 N 0.75 T 0.074 B 0.853866 NA 0.324047 N 0.485 503 59 0.105 569 0 0.000 2.38869698567645332e-19 0.593 --- 462,410,51,0.111 460,459,0,0.000 15.686 60 chr5 1064358 1064358 C T exonic SLC12A7 nonsynonymous SNV SLC12A7:NM_006598:exon19:c.G2447A:p.R816H Score=265;Name=lod=16 0.000077 rs146540406 0.07 0.995091 C 0.827659 NA 0.372 P 0.999998 N 0.999347 D 3.91 200 38 0.160 197 0 0.000 4.16092096297200082e-11 0.316 --- 203,172,31,0.153 172,172,0,0.000 8.690 10.346 chr5 1240716 1240716 G A exonic SLC6A18 nonsynonymous SNV SLC6A18:NM_182632:exon7:c.G916A:p.A306T 0.05 0.006053 N 0.99 D 0.0010 B 0.81608 N 0.189768 N -8.8 151 42 0.218 201 0 0.000 7.4699887288864288e-15 0.476 --- 156,121,35,0.224 155,155,0,0.000 11.169 60 chr5 1878517 1878517 T C exonic IRX4 nonsynonymous SNV IRX4:NM_016358:exon5:c.A1126G:p.T376A Score=553;Name=lod=236 0.71 0.99069 C 0.58 T 0.98 D 0.999907 D 0.021615 N 3.14 280 42 0.130 270 0 0.000 3.39385888058001977e-12 0.452 --- 287,251,35,0.122 239,238,1,0.004 8.221 60 chr5 2748667 2748667 C T exonic IRX2 synonymous SNV IRX2:NM_001134222:exon3:c.G1155A:p.T385T,IRX2:NM_033267:exon3:c.G1155A:p.T385T Score=640;Name=lod=533 174 32 0.155 216 0 0.000 2.84400542434990141e-11 0.500 --- 179,147,31,0.174 184,182,0,0.000 10.110 9.005 chr5 11364899 11364899 G A exonic CTNND2 synonymous SNV CTNND2:NM_001332:exon8:c.C1281T:p.R427R Score=681;Name=lod=779 ID=COSM300862;OCCURENCE=1(large_intestine) 146 22 0.131 167 0 0.000 2.28629968804439805e-07 0.409 --- 142,125,17,0.120 130,130,0,0.000 4.930 7.721 chr5 13786382 13786382 C T exonic DNAH5 nonsynonymous SNV DNAH5:NM_001369:exon52:c.G8726A:p.R2909H Score=464;Name=lod=103 ID=COSM1061409;OCCURENCE=2(large_intestine),1(endometrium) 0 0.998703 C 1.0 D 0.994 D 1.0 D 0.999688 D 5.12 120 24 0.167 137 0 0.000 4.93202092226871569e-08 0.292 --- 114,94,20,0.175 108,108,0,0.000 6.059 11.15 chr5 13793658 13793658 C T exonic DNAH5 synonymous SNV DNAH5:NM_001369:exon49:c.G8190A:p.T2730T 100 16 0.138 101 0 0.000 2.89445639542103362e-05 0.500 --- 103,87,16,0.155 87,86,0,0.000 4.158 10.406 chr5 15936869 15936869 C A exonic FBXL7 synonymous SNV FBXL7:NM_012304:exon4:c.C1050A:p.S350S Score=747;Name=lod=1448 208 57 0.215 310 0 0.000 1.76473500326648232e-21 0.526 --- 227,182,45,0.198 263,263,0,0.000 16.164 60 chr5 16794800 16794800 T C exonic MYO10 nonsynonymous SNV MYO10:NM_012334:exon4:c.A422G:p.Y141C Score=549;Name=lod=228 0 169 20 0.106 201 0 0.000 2.95602114735632855e-07 0.500 --- 164,147,17,0.104 164,164,0,0.000 5.006 7.081 chr5 19473651 19473651 T A exonic CDH18 nonsynonymous SNV CDH18:NM_004934:exon13:c.A2057T:p.K686M Score=446;Name=lod=87 0.03 0.912104 N 0.92 T 0.587 P 1.0 D 0.681693 D 2.43 91 22 0.195 147 0 0.000 3.05561397659536315e-09 0.409 --- 100,81,19,0.190 127,127,0,0.000 7.221 12.181 chr5 21802387 21802387 G A exonic CDH12 nonsynonymous SNV CDH12:NM_004061:exon10:c.C1145T:p.P382L Score=304;Name=lod=23 0 0.999702 C 1.0 D 0.999 D 1.0 D 0.954144 D 5.42 141 21 0.130 161 0 0.000 4.77168565216546458e-07 0.571 --- 136,118,18,0.132 130,130,0,0.000 5.348 7.436 chr5 31515264 31515264 T A exonic DROSHA nonsynonymous SNV DROSHA:NM_001100412:exon7:c.A1010T:p.D337V,DROSHA:NM_013235:exon7:c.A1121T:p.D374V Score=573;Name=lod=285 0.08 144 16 0.100 141 0 0.000 3.14034578134358993e-05 0.188 --- 128,113,15,0.117 113,113,0,0.000 4.244 6.394 chr5 32379266 32379266 T G exonic ZFR synonymous SNV ZFR:NM_016107:exon17:c.A2790C:p.R930R Score=690;Name=lod=851 98 14 0.125 114 0 0.000 3.48363374236280882e-05 0.500 --- 85,74,11,0.129 83,83,0,0.000 3.158 8.293 chr5 32712484 32712484 C T exonic NPR3 nonsynonymous SNV NPR3:NM_000908:exon1:c.C602T:p.A201V,NPR3:NM_001204375:exon1:c.C602T:p.A201V 0.51 159 25 0.136 197 0 0.000 5.07071051645555293e-09 0.480 --- 164,139,25,0.152 159,159,0,0.000 7.626 14.085 chr5 33881504 33881504 C T exonic ADAMTS12 nonsynonymous SNV ADAMTS12:NM_030955:exon2:c.G209A:p.G70D 0.85 0.922022 N 0.38 T 0.347 P 0.835462 N 0.344059 N 0.0529 171 35 0.170 244 0 0.000 2.40694200412805029e-13 0.429 --- 168,144,23,0.138 202,202,0,0.000 8.305 60 chr5 34004708 34004708 C A exonic AMACR nonsynonymous SNV AMACR:NM_001167595:exon3:c.G523T:p.G175C,AMACR:NM_014324:exon3:c.G523T:p.G175C Score=574;Name=lod=286 0 0.999206 C 1.0 D 0.997 D 1.0 D 0.999999 D 5.57 186 59 0.241 244 0 0.000 6.49931647039330199e-20 0.542 --- 196,149,47,0.240 196,196,0,0.000 15.210 60 chr5 34930002 34930002 G T exonic DNAJC21 synonymous SNV DNAJC21:NM_001012339:exon1:c.G78T:p.L26L,DNAJC21:NM_194283:exon1:c.G78T:p.L26L Score=606;Name=lod=388 74 9 0.108 85 0 0.000 0.00139137474013600662 0.778 --- 68,61,7,0.103 60,60,0,0.000 1.843 5.34 chr5 36217921 36217921 T C exonic NADKD1 nonsynonymous SNV NADKD1:NM_001085411:exon6:c.A710G:p.D237G,NADKD1:NM_153013:exon6:c.A221G:p.D74G Score=451;Name=lod=91 0 0.998654 C 0.99 D 0.997 D 1.0 D 0.999983 D 5.73 135 16 0.106 206 0 0.000 6.47875266215319181e-07 0.438 --- 118,103,15,0.127 169,169,0,0.000 6.032 10.97 chr5 36301498 36301498 T G exonic RANBP3L nonsynonymous SNV RANBP3L:NM_001161429:exon1:c.A21C:p.K7N,RANBP3L:NM_145000:exon1:c.A21C:p.K7N 0 0.820125 N 1.0 D 0.665 P 0.085468 N 0.060515 N 2.41 82 19 0.188 108 0 0.000 3.8091225774529599e-07 0.421 --- 88,74,14,0.159 82,82,0,0.000 4.111 12.057 chr5 37196023 37196023 C T exonic C5orf42 nonsynonymous SNV C5orf42:NM_023073:exon21:c.G3748A:p.A1250T ID=COSM186891,COSM186892;OCCURENCE=1(large_intestine) 0.04 0.124157 N 0.58 T 0.0 B 0.071955 N 0.002442 N 0.00957 95 13 0.120 129 0 0.000 2.40870775218208101e-05 0.538 --- 89,77,11,0.125 100,99,0,0.000 3.754 8.567 chr5 39202022 39202022 C T exonic FYB synonymous SNV FYB:NM_001243093:exon2:c.G1071A:p.L357L,FYB:NM_001465:exon2:c.G1041A:p.L347L,FYB:NM_199335:exon2:c.G1041A:p.L347L Score=317;Name=lod=26 153 21 0.121 198 0 0.000 5.94145481865592269e-08 0.476 --- 148,131,17,0.115 165,165,0,0.000 5.752 8.177 chr5 40852760 40852760 T C exonic CARD6 synonymous SNV CARD6:NM_032587:exon3:c.T1326C:p.D442D 138 24 0.148 146 0 0.000 8.95814424563820695e-08 0.542 --- 137,116,21,0.153 118,118,0,0.000 5.699 11.613 chr5 40959652 40959652 G T exonic C7 nonsynonymous SNV C7:NM_000587:exon12:c.G1591T:p.G531C Score=317;Name=lod=26 0 78 18 0.188 128 0 0.000 8.76144397000404228e-08 0.556 --- 78,64,14,0.179 111,111,0,0.000 5.706 5.898 chr5 42718766 42718766 G A exonic GHR nonsynonymous SNV GHR:NM_001242460:exon8:c.G1091A:p.R364H,GHR:NM_001242406:exon9:c.G1157A:p.R386H,GHR:NM_000163:exon10:c.G1157A:p.R386H,GHR:NM_001242399:exon10:c.G1178A:p.R393H,GHR:NM_001242402:exon10:c.G1157A:p.R386H,GHR:NM_001242403:exon10:c.G1157A:p.R386H,GHR:NM_001242404:exon10:c.G1157A:p.R386H,GHR:NM_001242405:exon10:c.G1157A:p.R386H,GHR:NM_001242400:exon11:c.G1157A:p.R386H,GHR:NM_001242401:exon11:c.G1157A:p.R386H Score=543;Name=lod=214 0.0005 rs180778998 0 0.993676 C 1.0 D 0.997 D 0.999999 N 0.999201 D 4.52 109 13 0.107 126 0 0.000 7.01599556383215174e-05 0.462 --- 105,93,12,0.114 112,112,0,0.000 3.932 8.033 chr5 52206036 52206036 G A exonic ITGA1 synonymous SNV ITGA1:NM_181501:exon14:c.G1644A:p.T548T Score=574;Name=lod=287 95 16 0.144 160 0 0.000 3.16748761072017985e-07 0.438 --- 96,81,15,0.156 128,127,0,0.000 5.782 10.894 chr5 54572233 54572233 A G exonic DHX29 nonsynonymous SNV DHX29:NM_019030:exon14:c.T2288C:p.V763A Score=639;Name=lod=528 0.05 0.99849 C 0.62 T 0.427 P 1.0 D 0.894597 D 5.13 56 8 0.125 64 0 0.000 0.00619172855358409769 0.375 --- 55,49,6,0.109 54,54,0,0.000 1.568 5.427 chr5 54701396 54701396 A C exonic SKIV2L2 synonymous SNV SKIV2L2:NM_015360:exon22:c.A2625C:p.R875R Score=621;Name=lod=447 85 10 0.105 100 0 0.000 0.000583230822983469793 0.200 --- 80,71,9,0.112 89,89,0,0.000 3.032 7.371 chr5 54721821 54721821 C T exonic PPAP2A nonsynonymous SNV PPAP2A:NM_003711:exon5:c.G596A:p.R199H,PPAP2A:NM_176895:exon5:c.G599A:p.R200H Score=597;Name=lod=357 0 0.999149 C 1.0 D 0.999 D 1.0 D 0.999567 D 5.51 117 32 0.215 201 0 0.000 1.60931298673363666e-13 0.406 --- 120,95,25,0.208 155,155,0,0.000 9.684 8.973 chr5 64887658 64887658 A G exonic TRIM23 nonsynonymous SNV TRIM23:NM_001656:exon11:c.T1663C:p.Y555H Score=668;Name=lod=692 0.54 0.820125 N 0.52 T 0.0 B 0.999875 N 0.951804 D 1.31 207 45 0.179 260 0 0.000 1.56513614132228124e-15 0.467 --- 191,157,34,0.178 196,196,0,0.000 11.136 15.176 chr5 66449407 66449407 A G exonic MAST4 nonsynonymous SNV MAST4:NM_015183:exon25:c.A3080G:p.K1027R,MAST4:NM_001164664:exon26:c.A3647G:p.K1216R Score=415;Name=lod=65 0.03 120 17 0.124 145 0 0.000 2.71715913574639925e-06 0.412 --- 116,103,13,0.112 120,120,0,0.000 4.167 5.378 chr5 66460569 66460569 C T exonic MAST4 synonymous SNV MAST4:NM_015183:exon28:c.C4995T:p.T1665T,MAST4:NM_001164664:exon29:c.C5562T:p.T1854T 205 33 0.139 220 0 0.000 1.40143436464096915e-10 0.394 --- 207,177,30,0.145 196,196,0,0.000 9.090 11.436 chr5 68660809 68660809 A G exonic TAF9 synonymous SNV TAF9:NM_001015892:exon3:c.T756C:p.D252D,TAF9:NM_003187:exon3:c.T756C:p.D252D Score=656;Name=lod=618 105 15 0.125 121 0 0.000 1.79589799078948722e-05 0.533 --- 95,82,13,0.137 102,102,0,0.000 4.315 5.826 chr5 68661267 68661267 T C exonic TAF9 nonsynonymous SNV TAF9:NM_001015892:exon3:c.A298G:p.N100D,TAF9:NM_003187:exon3:c.A298G:p.N100D Score=640;Name=lod=533 0 0.996772 C 0.99 D 0.914 D 1.0 D 0.999998 D 4.48 143 56 0.281 170 0 0.000 1.66050998455211119e-17 0.625 --- 175,126,49,0.280 152,152,0,0.000 14.604 60 chr5 73985192 73985192 T C exonic HEXB synonymous SNV HEXB:NM_000521:exon2:c.T339C:p.H113H 60 15 0.200 66 0 0.000 4.16467476525019795e-05 0.400 --- 53,44,9,0.170 54,54,0,0.000 2.908 9.071 chr5 74101011 74101011 C T exonic FAM169A nonsynonymous SNV FAM169A:NM_015566:exon7:c.G769A:p.A257T Score=391;Name=lod=52 0.18 0.998685 C 0.780661 NA 0.439736 NA 0.995017 N 0.00571 N 5.1 66 15 0.185 86 0 0.000 9.28785466293755132e-06 0.467 --- 68,56,12,0.176 71,70,0,0.000 3.922 11.997 chr5 76259284 76259284 G A exonic CRHBP synonymous SNV CRHBP:NM_001882:exon6:c.G810A:p.P270P Score=485;Name=lod=125 68 15 0.181 102 0 0.000 2.8007010050768858e-06 0.333 --- 66,53,13,0.197 80,80,0,0.000 4.793 9.374 chr5 78940975 78940975 C T exonic PAPD4 stopgain PAPD4:NM_001114394:exon8:c.C781T:p.R261X,PAPD4:NM_001114393:exon9:c.C781T:p.R261X,PAPD4:NM_173797:exon9:c.C781T:p.R261X Score=633;Name=lod=499 1 0.16217 N 0.836941 NA 0.597766 NA 1.0 D 1.0 A 0.374 83 14 0.144 96 0 0.000 7.3697991123121161e-05 0.429 --- 77,67,10,0.130 79,79,0,0.000 3.203 10.328 chr5 82834041 82834041 T C exonic VCAN nonsynonymous SNV VCAN:NM_001164097:exon7:c.T2258C:p.V753A,VCAN:NM_004385:exon8:c.T5219C:p.V1740A 0.1 0.04385 N 1.0 D 0.0 B 0.340277 N 0.213321 N -3.34 211 30 0.124 258 0 0.000 1.21839158330713072e-10 0.500 --- 215,185,30,0.140 219,219,0,0.000 9.628 10.573 chr5 90086820 90086820 A C exonic GPR98 nonsynonymous SNV GPR98:NM_032119:exon70:c.A14174C:p.E4725A Score=429;Name=lod=74 0.01 103 35 0.254 148 0 0.000 6.51031048009719724e-13 0.600 --- 113,87,26,0.230 115,115,0,0.000 8.638 4.927 chr5 90136658 90136658 G A exonic GPR98 synonymous SNV GPR98:NM_032119:exon78:c.G16875A:p.S5625S 108 22 0.169 152 0 0.000 1.40691610728293959e-08 0.545 --- 114,93,20,0.177 128,126,0,0.000 6.928 60 chr5 93294512 93294512 T C exonic FAM172A synonymous SNV FAM172A:NM_001163417:exon5:c.A399G:p.T133T,FAM172A:NM_032042:exon6:c.A537G:p.T179T Score=728;Name=lod=1212 108 15 0.122 142 0 0.000 6.15125544925838729e-06 0.667 --- 100,88,12,0.120 125,125,0,0.000 4.395 10.651 chr5 94956945 94956945 C T exonic GPR150 synonymous SNV GPR150:NM_199243:exon1:c.C966T:p.S322S 167 32 0.161 218 0 0.000 1.27192196071995246e-11 0.406 --- 174,145,29,0.167 191,191,0,0.000 9.908 13.091 chr5 102423723 102423723 C T exonic GIN1 nonsynonymous SNV GIN1:NM_017676:exon8:c.G1448A:p.R483H 0.65 0.145201 N 0.665666 NA 0.0 B 0.701347 N 0.008501 N -0.235 47 17 0.266 62 0 0.000 4.58752644694875589e-06 0.706 --- 59,43,15,0.259 51,51,0,0.000 4.489 11.724 chr5 108290548 108290548 G A exonic FER nonsynonymous SNV FER:NM_005246:exon12:c.G1448A:p.R483Q Score=686;Name=lod=820 0 0.998906 C 1.0 D 0.999 D 1.0 D 0.999999 D 4.44 78 22 0.220 154 0 0.000 2.60771863922165038e-10 0.545 --- 85,68,17,0.200 127,126,0,0.000 7.170 10.822 chr5 108521979 108521979 A G exonic FER nonsynonymous SNV FER:NM_005246:exon19:c.A2282G:p.Y761C Score=472;Name=lod=110 0 0.982623 C 1.0 D 1.0 D 0.999996 D 0.999991 D 4.65 117 33 0.220 188 0 0.000 2.54177522829246599e-13 0.606 --- 122,98,24,0.197 150,150,0,0.000 8.956 13.963 chr5 109904177 109904177 G A exonic TMEM232 stopgain TMEM232:NM_001039763:exon11:c.C1426T:p.R476X 0.0005 ID=COSM1229660,COSM1229661;OCCURENCE=1(large_intestine) rs148652027 1 115 37 0.243 166 0 0.000 1.01923967056258822e-13 0.649 --- 127,96,31,0.244 136,136,0,0.000 10.737 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 66 16 0.195 75 0 0.000 1.70267750653747469e-05 0.625 --- 71,56,15,0.211 62,62,0,0.000 4.382 7.116 chr5 112154723 112154723 C T exonic APC stopgain APC:NM_001127511:exon8:c.C940T:p.R314X,APC:NM_000038:exon10:c.C994T:p.R332X,APC:NM_001127510:exon11:c.C994T:p.R332X Score=802;Name=lod=2428 ID=COSM19239;OCCURENCE=6(large_intestine),1(endometrium) 1 0.977972 C 0.902109 NA 0.731937 NA 1.0 D 1.0 A 4.17 121 19 0.136 164 0 0.000 1.9757645439705444e-07 0.684 --- 123,101,22,0.179 133,133,0,0.000 7.468 8.95 chr5 112200325 112200325 A G exonic SRP19 nonsynonymous SNV SRP19:NM_001204194:exon3:c.A125G:p.K42R,SRP19:NM_001204196:exon3:c.A121G:p.K41E,SRP19:NM_001204193:exon4:c.A197G:p.K66R,SRP19:NM_001204199:exon4:c.A197G:p.K66R,SRP19:NM_003135:exon4:c.A197G:p.K66R Score=616;Name=lod=426 0.01 0.998958 C 0.98 D 0.751 P 1.0 D 0.999271 D 5.46 98 23 0.190 114 0 0.000 9.3010258626928912e-08 0.435 --- 110,90,19,0.174 100,100,0,0.000 5.662 8.855 chr5 112889711 112889711 G A exonic YTHDC2 nonsynonymous SNV YTHDC2:NM_022828:exon16:c.G2125A:p.V709M Score=646;Name=lod=564 0.15 0.991645 C 0.66 T 0.0010 B 0.999597 N 0.930232 D 3.33 115 13 0.102 138 0 0.000 5.32048868282521975e-05 0.385 --- 109,95,12,0.112 116,114,0,0.000 3.926 4.385 chr5 114598431 114598431 A G exonic PGGT1B nonsynonymous SNV PGGT1B:NM_005023:exon1:c.T118C:p.Y40H Score=431;Name=lod=75 0.15 0.998 C 0.94 T 0.032 B 0.999924 D 0.014044 N 4.83 130 35 0.212 161 0 0.000 8.38602914357622993e-12 0.629 --- 141,111,30,0.213 140,140,0,0.000 9.480 13.756 chr5 115782513 115782513 C T exonic SEMA6A synonymous SNV SEMA6A:NM_020796:exon19:c.G2889A:p.P963P Score=493;Name=lod=134 rs1046354 233 57 0.197 293 0 0.000 2.4009306865053673e-19 0.439 --- 237,188,49,0.207 230,230,0,0.000 15.543 60 chr5 122426171 122426171 C T exonic PRDM6 synonymous SNV PRDM6:NM_001136239:exon2:c.C462T:p.G154G Score=376;Name=lod=45 209 28 0.118 285 0 0.000 9.93589819094588173e-11 0.429 --- 193,170,22,0.115 246,244,1,0.004 7.022 3.569 chr5 122506735 122506735 C T exonic PRDM6 stopgain PRDM6:NM_001136239:exon6:c.C1429T:p.Q477X Score=652;Name=lod=595 0.07 149 24 0.139 207 0 0.000 2.47679609550642187e-09 0.333 --- 142,121,21,0.148 171,171,0,0.000 7.586 12.4 chr5 123983327 123983327 G A exonic ZNF608 nonsynonymous SNV ZNF608:NM_020747:exon4:c.C2750T:p.A917V Score=272;Name=lod=17 0.03 0.995344 C 0.82 T 0.028 B 0.997656 N 0.274781 N 4.42 219 38 0.148 273 0 0.000 2.48165370686339755e-13 0.500 --- 216,181,35,0.162 235,234,0,0.000 11.833 60 chr5 125960345 125960345 A G exonic PHAX nonsynonymous SNV PHAX:NM_032177:exon5:c.A994G:p.K332E Score=532;Name=lod=193 0.05 0.973333 C 0.82 T 0.741 P 1.0 D 0.99989 D 2.33 94 16 0.145 105 0 0.000 1.7983836249478324e-05 0.688 --- 94,79,15,0.160 87,86,0,0.000 4.392 5.788 chr5 127466852 127466852 C T exonic SLC12A2 nonsynonymous SNV SLC12A2:NM_001046:exon5:c.C1142T:p.A381V,SLC12A2:NM_001256461:exon5:c.C1142T:p.A381V Score=596;Name=lod=352 0 0.998694 C 1.0 D 0.07 B 1.0 D 0.999957 D 4.58 91 16 0.150 139 0 0.000 8.30198166317083685e-07 0.500 --- 93,76,16,0.174 109,108,0,0.000 5.730 11.113 chr5 127671183 127671183 C A exonic FBN2 nonsynonymous SNV FBN2:NM_001999:exon29:c.G3811T:p.G1271C Score=300;Name=lod=22 0 0.999319 C 1.0 D 0.998 D 0.999998 D 0.990514 D 5.19 86 24 0.218 124 0 0.000 3.06016269078233296e-09 0.417 --- 92,73,19,0.207 101,101,0,0.000 6.583 12.237 chr5 127873128 127873128 C T exonic FBN2 nonsynonymous SNV FBN2:NM_001999:exon1:c.G169A:p.G57R Score=317;Name=lod=26 0.01 0.998356 C 1.0 D 0.777055 NA 0.998876 N 0.94864 D 3.81 158 50 0.240 260 0 0.000 6.04091887282184156e-20 0.660 --- 185,140,45,0.243 211,211,0,0.000 16.281 60 chr5 129240627 129240627 C T exonic CHSY3 synonymous SNV CHSY3:NM_175856:exon1:c.C105T:p.S35S Score=619;Name=lod=436 60 17 0.221 66 0 0.000 1.12890246748778665e-05 0.412 --- 64,51,13,0.203 59,59,0,0.000 3.854 7.443 chr5 129521235 129521235 A G exonic CHSY3 nonsynonymous SNV CHSY3:NM_175856:exon3:c.A2400G:p.I800M Score=633;Name=lod=496 0 0.904507 N 1.0 D 0.998 D 0.999981 D 0.831678 D 1.91 40 10 0.200 52 0 0.000 0.000482247087836202513 0.600 --- 46,37,9,0.196 44,44,0,0.000 2.591 12.174 chr5 130788805 130788805 G A exonic RAPGEF6 nonsynonymous SNV RAPGEF6:NM_001164386:exon21:c.C3142T:p.R1048C,RAPGEF6:NM_001164388:exon21:c.C3142T:p.R1048C,RAPGEF6:NM_001164389:exon21:c.C3142T:p.R1048C,RAPGEF6:NM_016340:exon21:c.C3142T:p.R1048C,RAPGEF6:NM_001164387:exon22:c.C3157T:p.R1053C Score=679;Name=lod=769 ID=COSM172154;OCCURENCE=1(large_intestine) 0 0.999402 C 1.0 D 0.996 D 1.0 D 0.999861 D 4.89 78 28 0.264 106 0 0.000 9.53014809069541499e-10 0.429 --- 82,61,21,0.256 91,91,0,0.000 7.478 60 chr5 131326641 131326641 C T exonic ACSL6 nonsynonymous SNV ACSL6:NM_001009185:exon3:c.G290A:p.R97Q,ACSL6:NM_001205247:exon3:c.G185A:p.R62Q,ACSL6:NM_001205248:exon3:c.G215A:p.R72Q,ACSL6:NM_001205250:exon3:c.G248A:p.R83Q,ACSL6:NM_001205251:exon3:c.G110A:p.R37Q,ACSL6:NM_015256:exon3:c.G290A:p.R97Q Score=463;Name=lod=102 0 0.998896 C 1.0 D 0.965 D 1.0 D 0.987967 D 5.26 101 16 0.137 101 0 0.000 3.07108770612680743e-05 0.375 --- 94,79,15,0.160 86,85,0,0.000 4.369 9.596 chr5 132061873 132061873 A G exonic KIF3A nonsynonymous SNV KIF3A:NM_007054:exon4:c.T457C:p.Y153H Score=651;Name=lod=592 0 0.998817 C 1.0 D 0.996 D 1.0 D 0.999848 D 5.34 81 12 0.129 85 0 0.000 0.000379147906332312573 0.750 --- 74,64,10,0.135 69,69,0,0.000 2.829 7.473 chr5 132097519 132097519 G A exonic SEPT8 nonsynonymous SNV SEPT8:NM_001098811:exon6:c.C766T:p.R256W,SEPT8:NM_001098812:exon6:c.C766T:p.R256W,SEPT8:NM_001098813:exon6:c.C586T:p.R196W,SEPT8:NM_015146:exon6:c.C766T:p.R256W Score=451;Name=lod=91 0 0.989061 C 1.0 D 1.0 D 1.0 D 1.0 D 3.77 111 26 0.190 153 0 0.000 8.57307316708019413e-10 0.423 --- 113,94,19,0.168 133,133,0,0.000 6.806 9.472 chr5 133895628 133895628 C T exonic PHF15 synonymous SNV PHF15:NM_015288:exon5:c.C420T:p.D140D Score=583;Name=lod=311 152 35 0.187 166 0 0.000 6.27290488925191123e-11 0.400 --- 149,123,26,0.174 123,123,0,0.000 7.201 13.812 chr5 133896441 133896441 C T exonic PHF15 nonsynonymous SNV PHF15:NM_015288:exon6:c.C478T:p.P160S Score=389;Name=lod=51 0.04 0.999245 C 0.85 T 0.712 P 1.0 D 0.675344 D 5.62 68 8 0.105 108 0 0.000 0.0006751957983594798 0.750 --- 66,59,7,0.106 87,87,0,0.000 2.639 3.084 chr5 134688689 134688689 A G exonic H2AFY nonsynonymous SNV H2AFY:NM_001040158:exon6:c.T632C:p.V211A,H2AFY:NM_004893:exon6:c.T632C:p.V211A,H2AFY:NM_138610:exon6:c.T635C:p.V212A Score=746;Name=lod=1432 0.12 0.998933 C 0.81 T 0.0 B 0.999974 D 0.949284 D 5.44 38 16 0.296 50 0 0.000 9.80417943003433862e-06 0.438 --- 40,30,10,0.250 41,41,0,0.000 3.346 14.724 chr5 136969737 136969737 C T exonic KLHL3 nonsynonymous SNV KLHL3:NM_001257195:exon10:c.G1193A:p.R398H,KLHL3:NM_001257194:exon12:c.G1343A:p.R448H,KLHL3:NM_017415:exon12:c.G1439A:p.R480H Score=419;Name=lod=67 0 0.999032 C 1.0 D 1.0 D 1.0 D 0.999991 D 4.86 139 31 0.182 145 0 0.000 1.48207853179825041e-09 0.677 --- 139,113,26,0.187 129,129,0,0.000 7.905 10.939 chr5 137289948 137289948 A G exonic FAM13B nonsynonymous SNV FAM13B:NM_001101800:exon14:c.T1559C:p.L520S,FAM13B:NM_001101801:exon14:c.T1271C:p.L424S,FAM13B:NM_016603:exon14:c.T1559C:p.L520S Score=600;Name=lod=365 0 0.998545 C 1.0 D 0.92 D 0.987914 N 0.860188 D 5.14 74 30 0.288 122 0 0.000 5.55726141022980896e-12 0.600 --- 85,62,23,0.271 99,99,0,0.000 8.516 11.032 chr5 138715430 138715430 C T exonic SLC23A1 nonsynonymous SNV SLC23A1:NM_005847:exon8:c.G862A:p.A288T,SLC23A1:NM_152685:exon8:c.G874A:p.A292T Score=455;Name=lod=94 0 0.998108 C 0.99 D 0.922 D 1.0 D 0.99926 D 4.24 150 42 0.219 128 0 0.000 6.95435072345012249e-11 0.500 --- 153,120,33,0.216 109,108,0,0.000 8.322 60 chr5 138717626 138717626 G A exonic SLC23A1 nonsynonymous SNV SLC23A1:NM_005847:exon3:c.C263T:p.T88M,SLC23A1:NM_152685:exon3:c.C263T:p.T88M Score=459;Name=lod=98 0.02 0.949304 N 1.0 D 0.223 P 0.998703 N 0.996463 D 2.21 136 31 0.186 135 0 0.000 4.71543269848002801e-09 0.677 --- 132,105,26,0.198 104,104,0,0.000 7.108 4.571 chr5 138730521 138730521 G A exonic PROB1 nonsynonymous SNV PROB1:NM_001161546:exon1:c.C250T:p.P84S 248 33 0.117 228 0 0.000 2.12842638534935473e-09 0.576 --- 248,215,33,0.133 198,198,0,0.000 8.707 7.921 chr5 140176364 140176364 G A exonic PCDHA2 synonymous SNV PCDHA2:NM_018905:exon1:c.G1815A:p.A605A,PCDHA2:NM_031495:exon1:c.G1815A:p.A605A Score=420;Name=lod=68 265 65 0.197 368 0 0.000 1.79181685335781303e-23 0.369 --- 297,238,59,0.199 329,329,0,0.000 20.564 60 chr5 140188477 140188477 C T exonic PCDHA4 nonsynonymous SNV PCDHA4:NM_018907:exon1:c.C1705T:p.R569W,PCDHA4:NM_031500:exon1:c.C1705T:p.R569W Score=0.900087;Name=chr5:140208849 rs13189658 0.18 0.955129 C 0.81 T 0.42203 NA 0.846344 NA 0.0 N -1.26 285 84 0.228 378 0 0.000 8.41566101539903974e-29 0.429 --- 327,250,77,0.235 330,330,0,0.000 25.549 60 chr5 140202891 140202891 G A exonic PCDHA5 nonsynonymous SNV PCDHA5:NM_018908:exon1:c.G1531A:p.A511T,PCDHA5:NM_031501:exon1:c.G1531A:p.A511T Score=471;Name=lod=109 0.03 0.997596 C 0.97 D 0.51878 NA 0.857001 NA 0.002231 N 2.11 671 124 0.156 898 2 0.002 1.77369465035824641e-40 0.516 0.500 658,554,103,0.157 763,762,1,0.001 34.715 5.998 chr5 140215473 140215473 G A exonic PCDHA7 nonsynonymous SNV PCDHA7:NM_018910:exon1:c.G1505A:p.R502H,PCDHA7:NM_031852:exon1:c.G1505A:p.R502H Score=272;Name=lod=17 Score=0.911161;Name=chr5:140228158 ID=COSM88627;OCCURENCE=1(ovary) 0.02 0.997069 C 0.99 D 0.557883 NA 0.996476 U 0.011851 N 3.7 602 107 0.151 777 0 0.000 4.46226827056589212e-37 0.617 --- 600,510,90,0.150 654,654,0,0.000 30.447 7.688 chr5 140222854 140222854 C A exonic PCDHA8 nonsynonymous SNV PCDHA8:NM_018911:exon1:c.C1948A:p.L650M,PCDHA8:NM_031856:exon1:c.C1948A:p.L650M Score=395;Name=lod=54 Score=0.926251;Name=chr5:140207726 0.02 0.184914 N 0.95 T 0.420309 NA 0.912604 U 0.001591 N -0.436 238 64 0.212 280 0 0.000 2.19807199229924742e-20 0.438 --- 275,220,55,0.200 250,249,0,0.000 16.572 60 chr5 140229259 140229259 C T exonic PCDHA9 synonymous SNV PCDHA9:NM_014005:exon1:c.C1179T:p.V393V,PCDHA9:NM_031857:exon1:c.C1179T:p.V393V Score=0.911161;Name=chr5:140214046 0.000232 0.0005 rs138948867 176 42 0.193 258 0 0.000 5.36167179810954027e-16 0.524 --- 195,159,36,0.185 228,227,0,0.000 12.900 11.988 chr5 140229390 140229390 C T exonic PCDHA9 nonsynonymous SNV PCDHA9:NM_014005:exon1:c.C1310T:p.A437V,PCDHA9:NM_031857:exon1:c.C1310T:p.A437V Score=0.911161;Name=chr5:140214046 0.06 0.994206 C 0.91 T 0.511934 NA 0.996254 U 0.007556 N 3.22 355 48 0.119 474 0 0.000 1.23947213143463468e-17 0.667 --- 357,314,43,0.120 418,418,0,0.000 15.105 6.45 chr5 140229842 140229842 G A exonic PCDHA9 nonsynonymous SNV PCDHA9:NM_014005:exon1:c.G1762A:p.G588S,PCDHA9:NM_031857:exon1:c.G1762A:p.G588S Score=457;Name=lod=96 Score=0.911161;Name=chr5:140214046 ID=COSM1219619,COSM1219618;OCCURENCE=1(large_intestine) 0 0.996163 C 1.0 D 0.56471 NA 0.996835 U 0.017552 N 2.99 238 62 0.207 265 0 0.000 5.63703806277574618e-19 0.258 --- 266,209,57,0.214 234,234,0,0.000 16.711 8.863 chr5 140236918 140236918 G A exonic PCDHA10 nonsynonymous SNV PCDHA10:NM_018901:exon1:c.G1285A:p.G429R,PCDHA10:NM_031859:exon1:c.G1285A:p.G429R,PCDHA10:NM_031860:exon1:c.G1285A:p.G429R Score=366;Name=lod=41 0.22 0.974357 C 0.67 T 0.348611 NA 0.853883 NA 0.003984 N 2.35 395 64 0.139 518 0 0.000 8.2582256961294525e-23 0.578 --- 400,342,57,0.143 449,449,0,0.000 19.652 11.315 chr5 140255354 140255354 C T exonic PCDHA12 synonymous SNV PCDHA12:NM_018903:exon1:c.C297T:p.S99S,PCDHA12:NM_031864:exon1:c.C297T:p.S99S 676 153 0.185 887 0 0.000 1.54163106858412475e-52 0.386 --- 704,576,128,0.182 745,745,0,0.000 42.964 10.563 chr5 140262555 140262555 C T exonic PCDHA13 synonymous SNV PCDHA13:NM_018904:exon1:c.C702T:p.D234D,PCDHA13:NM_031865:exon1:c.C702T:p.D234D Score=432;Name=lod=76 233 45 0.162 323 0 0.000 1.07145624462365796e-16 0.578 --- 250,208,42,0.168 280,280,0,0.000 14.568 60 chr5 140346725 140346725 C T exonic PCDHAC2 nonsynonymous SNV PCDHAC2:NM_018899:exon1:c.C374T:p.A125V,PCDHAC2:NM_031883:exon1:c.C374T:p.A125V Score=519;Name=lod=171 0.57 0.978124 C 0.0 T 0.0010 B 0.999595 D 0.333975 N 3.89 249 72 0.224 319 0 0.000 4.81723532941821215e-24 0.389 --- 274,216,58,0.212 270,269,0,0.000 18.568 60 chr5 140481821 140481821 C T exonic PCDHB3 nonsynonymous SNV PCDHB3:NM_018937:exon1:c.C1588T:p.R530C Score=0.966211;Name=chr5:140475604 0.07 0.909849 N 0.93 T 0.816 P 0.858327 NA 0.062188 N -1.06 868 189 0.179 1186 0 0.000 1.01633988670707366e-66 0.587 --- 923,760,163,0.177 1028,1027,0,0.000 56.535 4.962 chr5 140482137 140482137 C T exonic PCDHB3 nonsynonymous SNV PCDHB3:NM_018937:exon1:c.C1904T:p.A635V Score=378;Name=lod=46 Score=0.966211;Name=chr5:140475604 0.0082 0.33 0.936471 N 0.48 T 0.0 B 0.835024 NA 0.017278 N 2.63 993 211 0.175 1201 1 0.001 2.94591652960428779e-66 0.502 0.000 1037,858,179,0.173 1020,1019,1,0.001 54.862 3.424 chr5 140532052 140532052 C T exonic PCDHB6 synonymous SNV PCDHB6:NM_018939:exon1:c.C2214T:p.S738S Score=0.95073;Name=chr5:140568106 378 89 0.191 557 0 0.000 2.93046769077451804e-33 0.326 --- 416,336,80,0.192 493,493,0,0.000 29.134 13.589 chr5 140719672 140719672 G C exonic PCDHGA2 nonsynonymous SNV PCDHGA2:NM_018915:exon1:c.G1134C:p.Q378H,PCDHGA2:NM_032009:exon1:c.G1134C:p.Q378H 0.01 0.874695 N 0.98 D 0.502534 NA 0.821228 U 2.41E-4 N -0.69 120 23 0.161 130 0 0.000 1.51656149413498198e-07 0.652 --- 121,101,20,0.165 113,113,0,0.000 6.000 13.445 chr5 140751112 140751112 G A exonic PCDHGB3 nonsynonymous SNV PCDHGB3:NM_018924:exon1:c.G1151A:p.C384Y,PCDHGB3:NM_032097:exon1:c.G1151A:p.C384Y Score=272;Name=lod=17 122 21 0.147 139 0 0.000 4.47975308523842808e-07 0.476 --- 126,107,19,0.151 118,118,0,0.000 5.661 14.523 chr5 140755470 140755470 G A exonic PCDHGA6 nonsynonymous SNV PCDHGA6:NM_018919:exon1:c.G1820A:p.R607H,PCDHGA6:NM_032086:exon1:c.G1820A:p.R607H Score=605;Name=lod=382 653 90 0.121 780 0 0.000 4.677621197223934e-30 0.556 --- 636,555,81,0.127 689,689,0,0.000 27.047 5.287 chr5 140857330 140857330 C T exonic PCDHGC3 synonymous SNV PCDHGC3:NM_002588:exon1:c.C1647T:p.T549T,PCDHGC3:NM_032402:exon1:c.C1647T:p.T549T Score=432;Name=lod=76 144 29 0.168 187 0 0.000 1.56139891432847205e-10 0.586 --- 154,125,29,0.188 158,158,0,0.000 9.532 60 chr5 140857854 140857854 G T exonic PCDHGC3 nonsynonymous SNV PCDHGC3:NM_002588:exon1:c.G2171T:p.R724I,PCDHGC3:NM_032402:exon1:c.G2171T:p.R724I Score=512;Name=lod=160 0 0.995247 C 0.97 D 0.518507 NA 0.856418 NA 0.002745 N 3.02 133 17 0.113 155 0 0.000 3.53710849760529506e-06 0.529 --- 134,118,16,0.119 146,146,0,0.000 5.336 12.454 chr5 140865343 140865343 T C exonic PCDHGC4 synonymous SNV PCDHGC4:NM_018928:exon1:c.T603C:p.D201D,PCDHGC4:NM_032406:exon1:c.T603C:p.D201D Score=495;Name=lod=137 113 20 0.150 158 0 0.000 6.85658609648324721e-08 0.550 --- 119,101,18,0.151 135,135,0,0.000 6.247 9.956 chr5 141693874 141693874 C T exonic SPRY4 nonsynonymous SNV SPRY4:NM_001127496:exon2:c.G800A:p.R267H,SPRY4:NM_030964:exon3:c.G869A:p.R290H Score=492;Name=lod=133 0.000308 0.08 0.981251 C 0.9 T 0.991 D 0.996759 N 0.980602 D 3.58 271 70 0.205 357 0 0.000 2.94482645011018378e-24 0.500 --- 271,220,51,0.188 272,272,0,0.000 16.524 15.051 chr5 142689734 142689734 C T exonic NR3C1 nonsynonymous SNV NR3C1:NM_000176:exon4:c.G1396A:p.D466N,NR3C1:NM_001018074:exon4:c.G1396A:p.D466N,NR3C1:NM_001018075:exon4:c.G1396A:p.D466N,NR3C1:NM_001018076:exon4:c.G1396A:p.D466N,NR3C1:NM_001018077:exon4:c.G1396A:p.D466N,NR3C1:NM_001020825:exon4:c.G1396A:p.D466N,NR3C1:NM_001024094:exon4:c.G1399A:p.D467N,NR3C1:NM_001204258:exon4:c.G1318A:p.D440N,NR3C1:NM_001204259:exon4:c.G1141A:p.D381N,NR3C1:NM_001204260:exon4:c.G1129A:p.D377N,NR3C1:NM_001204261:exon4:c.G1105A:p.D369N,NR3C1:NM_001204262:exon4:c.G451A:p.D151N,NR3C1:NM_001204263:exon4:c.G406A:p.D136N,NR3C1:NM_001204264:exon4:c.G391A:p.D131N,NR3C1:NM_001204265:exon4:c.G1396A:p.D466N Score=647;Name=lod=568 0 0.999311 C 1.0 D 1.0 D 1.0 D 0.999988 D 5.71 76 20 0.208 92 0 0.000 6.83197674552346176e-07 0.300 --- 78,63,15,0.192 80,80,0,0.000 4.925 10.91 chr5 145610416 145610416 T C exonic RBM27 synonymous SNV RBM27:NM_018989:exon6:c.T786C:p.N262N Score=703;Name=lod=962 124 26 0.173 151 0 0.000 4.15962511856161867e-09 0.615 --- 125,103,22,0.176 119,118,0,0.000 6.682 12.781 chr5 148756510 148756510 G A exonic IL17B nonsynonymous SNV IL17B:NM_014443:exon2:c.C100T:p.R34W ID=COSM449085;OCCURENCE=1(breast) 0.01 0.957736 C 1.0 D 0.983 D 0.992254 N 0.538592 D 0.518 142 40 0.220 187 0 0.000 4.58882210055600772e-14 0.450 --- 144,117,27,0.188 152,152,0,0.000 9.048 11.8 chr5 149214865 149214865 G A exonic PPARGC1B nonsynonymous SNV PPARGC1B:NM_001172698:exon6:c.G1627A:p.D543N,PPARGC1B:NM_001172699:exon6:c.G1552A:p.D518N,PPARGC1B:NM_133263:exon7:c.G1744A:p.D582N Score=467;Name=lod=105 0.01 0.942988 N 0.95 T 0.968 D 0.847187 N 0.0 N 2.2 65 12 0.156 87 0 0.000 7.02216694229879603e-05 0.583 --- 66,58,8,0.121 75,74,0,0.000 2.716 10.182 chr5 149546553 149546553 G A exonic CDX1 synonymous SNV CDX1:NM_001804:exon1:c.G114A:p.A38A 119 16 0.119 109 0 0.000 8.18822238601424011e-05 0.125 --- 134,116,16,0.121 105,102,0,0.000 4.046 5.521 chr5 149576631 149576631 G A exonic SLC6A7 nonsynonymous SNV SLC6A7:NM_014228:exon4:c.G376A:p.V126M Score=497;Name=lod=140 0.0005 rs201675148 0 0.999449 C 1.0 D 0.033 B 0.998795 N 0.402616 N 4.95 79 15 0.160 111 0 0.000 4.32824441153707342e-06 0.733 --- 79,64,15,0.190 97,97,0,0.000 5.568 14.162 chr5 149915300 149915300 G A exonic NDST1 synonymous SNV NDST1:NM_001543:exon6:c.G1290A:p.A430A ID=COSM118484;OCCURENCE=1(ovary) 139 19 0.120 149 0 0.000 2.46633550798897851e-06 0.579 --- 129,112,16,0.125 128,127,0,0.000 4.732 7.522 chr5 150029847 150029847 C T exonic SYNPO synonymous SNV SYNPO:NM_001109974:exon2:c.C2010T:p.N670N,SYNPO:NM_007286:exon2:c.C2010T:p.N670N,SYNPO:NM_001166208:exon3:c.C2742T:p.N914N,SYNPO:NM_001166209:exon3:c.C2742T:p.N914N 0.000077 0.0009 rs139882602 338 45 0.117 356 0 0.000 3.91641559576223104e-14 0.378 --- 337,295,42,0.125 307,306,0,0.000 12.115 9.731 chr5 150076097 150076097 G A exonic RBM22 synonymous SNV RBM22:NM_018047:exon6:c.C543T:p.Y181Y Score=720;Name=lod=1124 115 30 0.207 136 0 0.000 5.28661730288954768e-10 0.700 --- 128,100,28,0.219 131,130,0,0.000 9.249 3.993 chr5 150413333 150413333 G A exonic TNIP1 nonsynonymous SNV TNIP1:NM_001252386:exon15:c.C1456T:p.P486S,TNIP1:NM_001252385:exon16:c.C1615T:p.P539S,TNIP1:NM_001252390:exon16:c.C1615T:p.P539S,TNIP1:NM_001252391:exon16:c.C1615T:p.P539S,TNIP1:NM_001252392:exon16:c.C1615T:p.P539S,TNIP1:NM_001252393:exon16:c.C1615T:p.P539S,TNIP1:NM_001258454:exon16:c.C1615T:p.P539S,TNIP1:NM_006058:exon16:c.C1615T:p.P539S Score=317;Name=lod=26 0.000461 rs146625793 0.25 0.991947 C 0.69 T 0.018 B 0.999995 N 0.968682 D 3.91 130 29 0.182 174 0 0.000 1.12992021700403478e-10 0.414 --- 143,115,28,0.196 150,150,0,0.000 9.374 6.508 chr5 150565026 150565026 C T exonic CCDC69 nonsynonymous SNV CCDC69:NM_015621:exon7:c.G572A:p.R191H Score=592;Name=lod=340 ID=COSM449128;OCCURENCE=1(breast) 0.14 0.972649 C 0.97 D 0.233 P 0.969227 N 0.08242 N 3.73 96 21 0.179 102 0 0.000 7.9579491202941044e-07 0.429 --- 92,76,16,0.174 82,82,0,0.000 4.667 10.256 chr5 153433120 153433120 A G exonic MFAP3 nonsynonymous SNV MFAP3:NM_001135037:exon2:c.A498G:p.I166M,MFAP3:NM_001242336:exon3:c.A936G:p.I312M,MFAP3:NM_005927:exon3:c.A936G:p.I312M Score=593;Name=lod=343 0 0.825831 N 1.0 D 0.968 D 1.0 D 0.693033 D 2.01 106 33 0.237 132 0 0.000 3.76577090058769778e-11 0.485 --- 117,91,26,0.222 115,114,0,0.000 8.185 60 chr5 153830737 153830737 C T exonic SAP30L synonymous SNV SAP30L:NM_024632:exon2:c.C288T:p.G96G Score=669;Name=lod=698 102 19 0.157 150 0 0.000 9.53527707780650741e-08 0.474 --- 100,82,18,0.180 123,123,0,0.000 6.670 13.182 chr5 162902514 162902514 G A exonic HMMR nonsynonymous SNV HMMR:NM_001142557:exon8:c.G843A:p.M281I,HMMR:NM_012485:exon10:c.G1056A:p.M352I,HMMR:NM_001142556:exon11:c.G1104A:p.M368I,HMMR:NM_012484:exon11:c.G1101A:p.M367I Score=355;Name=lod=37 0.14 0.891365 N 0.7 T 0.996 D 0.994327 N 1.16E-4 N 2.62 61 10 0.141 80 0 0.000 0.000368652720476135376 0.700 --- 60,52,8,0.133 64,64,0,0.000 2.634 7.098 chr5 166802402 166802402 C T exonic TENM2 synonymous SNV TENM2:NM_001122679:exon2:c.C426T:p.S142S Score=616;Name=lod=425 122 18 0.129 165 0 0.000 4.35836348557350778e-07 0.444 --- 121,105,15,0.125 136,136,0,0.000 5.151 7.727 chr5 171765883 171765883 G A exonic SH3PXD2B synonymous SNV SH3PXD2B:NM_001017995:exon13:c.C2226T:p.S742S 217 54 0.199 300 0 0.000 1.53096032597785057e-19 0.500 --- 231,187,43,0.187 249,248,0,0.000 14.636 60 chr5 171766192 171766192 T C exonic SH3PXD2B synonymous SNV SH3PXD2B:NM_001017995:exon13:c.A1917G:p.R639R Score=492;Name=lod=133 152 105 0.409 218 0 0.000 6.20412420233280681e-34 0.457 --- 223,132,90,0.405 186,186,0,0.000 28.323 60 chr5 172096988 172096988 C T exonic NEURL1B synonymous SNV NEURL1B:NM_001142651:exon2:c.C232T:p.L78L Score=558;Name=lod=248 142 76 0.349 261 0 0.000 1.86761610256566588e-30 0.526 --- 183,118,65,0.355 213,213,0,0.000 25.021 60 chr5 172113197 172113197 A G exonic NEURL1B nonsynonymous SNV NEURL1B:NM_001142651:exon4:c.A1321G:p.T441A 0.67 88 56 0.389 135 0 0.000 1.26078586826300989e-19 0.571 --- 110,69,41,0.373 110,110,0,0.000 14.042 60 chr5 175925948 175925948 A G exonic FAF2 synonymous SNV FAF2:NM_014613:exon9:c.A873G:p.Q291Q Score=603;Name=lod=375 114 21 0.156 170 0 0.000 1.44559409892863286e-08 0.762 --- 123,102,20,0.164 138,138,0,0.000 6.962 14.239 chr5 176011891 176011891 C T exonic CDHR2 nonsynonymous SNV CDHR2:NM_001171976:exon19:c.C2609T:p.A870V,CDHR2:NM_017675:exon19:c.C2609T:p.A870V Score=243;Name=lod=13 0.22 0.909849 N 0.699514 NA 0.024 B 0.81984 NA 0.013273 N 2.83 146 21 0.126 172 0 0.000 1.76820086608901585e-07 0.333 --- 141,122,19,0.135 146,146,0,0.000 6.151 10.881 chr5 176056613 176056613 C T exonic SNCB nonsynonymous SNV SNCB:NM_003085:exon2:c.G43A:p.V15I,SNCB:NM_001001502:exon3:c.G43A:p.V15I Score=632;Name=lod=495 0.01 0.994895 C 0.98 D 0.396 P 0.999995 D 0.071334 N 3.32 112 55 0.329 152 0 0.000 2.44929528155448608e-18 0.491 --- 149,94,54,0.365 128,128,0,0.000 16.919 60 chr5 176083736 176083736 C T exonic TSPAN17 synonymous SNV TSPAN17:NM_001006616:exon7:c.C666T:p.G222G,TSPAN17:NM_012171:exon7:c.C675T:p.G225G,TSPAN17:NM_130465:exon7:c.C666T:p.G222G Score=605;Name=lod=382 88 46 0.343 148 0 0.000 1.01643200877529284e-17 0.783 --- 115,72,43,0.374 125,125,0,0.000 15.930 60 chr5 176304689 176304689 C T exonic UNC5A synonymous SNV UNC5A:NM_133369:exon10:c.C1620T:p.C540C 147 17 0.104 166 0 0.000 4.43383222699536241e-06 0.353 --- 138,123,15,0.109 145,145,0,0.000 4.857 5.645 chr5 176885433 176885433 C T exonic DBN1 nonsynonymous SNV DBN1:NM_004395:exon12:c.G1402A:p.V468I,DBN1:NM_080881:exon13:c.G1408A:p.V470I 0.25 0.035397 N 0.8 T 0.0 B 0.007006 N 0.009374 N -3.77 140 80 0.364 199 0 0.000 1.30775147251297453e-26 0.425 --- 191,120,70,0.368 161,161,0,0.000 21.731 60 chr5 176919638 176919638 A T exonic PDLIM7 nonsynonymous SNV PDLIM7:NM_005451:exon3:c.T137A:p.V46E,PDLIM7:NM_203352:exon3:c.T137A:p.V46E,PDLIM7:NM_213636:exon3:c.T137A:p.V46E Score=336;Name=lod=31 0 0.996651 C 0.97 D 0.957 D 0.999941 D 0.998547 D 4.34 149 20 0.118 162 0 0.000 1.13662880383488124e-06 0.400 --- 144,128,16,0.111 151,150,0,0.000 5.155 9.65 chr5 176939847 176939847 C T exonic DDX41 nonsynonymous SNV DDX41:NM_016222:exon13:c.G1333A:p.V445M Score=592;Name=lod=338 0 0.984116 C 1.0 D 0.981 D 0.999994 D 0.999238 D 4.31 116 71 0.380 173 0 0.000 2.46713774561553036e-24 0.479 --- 167,101,66,0.395 150,150,0,0.000 21.425 60 chr5 176965975 176965975 C A exonic FAM193B nonsynonymous SNV FAM193B:NM_001190946:exon2:c.G384T:p.W128C Score=736;Name=lod=1308 0 166 43 0.206 205 0 0.000 2.20267237059029635e-14 0.581 --- 185,147,38,0.205 175,175,0,0.000 11.844 60 chr5 177546804 177546804 C T exonic N4BP3 nonsynonymous SNV N4BP3:NM_015111:exon2:c.C220T:p.R74W Score=259;Name=lod=15 0.02 0.977511 C 0.98 D 0.998 D 0.947308 N 0.360737 N 3.58 270 41 0.132 282 0 0.000 1.44476153216093737e-12 0.415 --- 264,227,37,0.140 231,231,0,0.000 10.557 60 chr5 177575020 177575020 G A exonic RMND5B nonsynonymous SNV RMND5B:NM_022762:exon11:c.G1169A:p.R390H Score=613;Name=lod=413 ID=COSM267338;OCCURENCE=1(kidney),1(large_intestine) rs200559247 0.07 0.999583 C 0.91 T 0.0020 B 0.999999 D 0.857145 D 5.16 78 19 0.196 134 0 0.000 2.24356181618079227e-08 0.368 --- 75,63,12,0.160 103,103,0,0.000 4.743 14.155 chr5 177715351 177715351 C T exonic COL23A1 nonsynonymous SNV COL23A1:NM_173465:exon5:c.G415A:p.G139R Score=539;Name=lod=207 0 0.998862 C 0.901226 NA 0.726878 NA 0.98887 N 0.977958 D 5.24 59 9 0.132 58 0 0.000 0.00363945917234279308 0.444 --- 53,48,5,0.094 47,47,0,0.000 1.233 5.557 chr5 178373425 178373425 C T exonic ZNF454 synonymous SNV ZNF454:NM_001178089:exon3:c.C99T:p.P33P,ZNF454:NM_001178090:exon3:c.C99T:p.P33P,ZNF454:NM_182594:exon3:c.C99T:p.P33P 0.000231 0.0005 rs139308434 92 63 0.406 131 1 0.008 3.95248535549682274e-19 0.587 1.000 124,74,50,0.403 106,105,1,0.009 14.412 60 chr5 178392125 178392125 C T exonic ZNF454 synonymous SNV ZNF454:NM_001178089:exon5:c.C720T:p.G240G,ZNF454:NM_001178090:exon5:c.C720T:p.G240G,ZNF454:NM_182594:exon5:c.C720T:p.G240G 0 119 65 0.353 187 0 0.000 1.52107118440887885e-23 0.600 --- 145,92,53,0.366 157,157,0,0.000 19.522 60 chr6 656619 656619 C T exonic HUS1B nonsynonymous SNV HUS1B:NM_148959:exon1:c.G326A:p.R109H 0.54 0.053085 N 0.45 T 0.955 D 0.999864 U 0.012754 N -5.8 169 38 0.184 255 0 0.000 7.19300542055480104e-15 0.526 --- 180,145,35,0.194 218,218,0,0.000 12.930 10.619 chr6 1611848 1611848 G T exonic FOXC1 nonsynonymous SNV FOXC1:NM_001453:exon1:c.G1168T:p.A390S Score=553;Name=lod=235 0.43 0.870291 N 0.75 T 0.0010 B 0.806411 NA 0.017022 N 0.6 54 8 0.129 47 0 0.000 0.00972748085215527456 0.625 --- 57,50,7,0.123 40,40,0,0.000 1.408 3.659 chr6 2675340 2675340 C T exonic MYLK4 nonsynonymous SNV MYLK4:NM_001012418:exon11:c.G1060A:p.E354K Score=488;Name=lod=128 0.07 0.999347 C 0.94 T 0.0020 B 0.999875 D 0.503937 D 5.76 81 9 0.100 90 0 0.000 0.00316635587473379261 0.111 --- 73,63,9,0.125 75,75,0,0.000 2.908 3.116 chr6 2833921 2833921 G A exonic SERPINB1 nonsynonymous SNV SERPINB1:NM_030666:exon7:c.C1061T:p.A354V Score=265;Name=lod=16 0.21 0.813375 N 0.88 T 0.013 B 0.999641 N 0.997144 D 0.274 168 28 0.143 174 0 0.000 7.25329544335905264e-09 0.714 --- 163,138,24,0.148 144,143,0,0.000 6.953 11.348 chr6 3015769 3015769 G A exonic NQO2 synonymous SNV NQO2:NM_000904:exon5:c.G309A:p.P103P 151 34 0.184 187 0 0.000 9.0442337790551635e-12 0.382 --- 160,130,30,0.188 157,157,0,0.000 9.368 7.197 chr6 5086466 5086466 C T exonic PPP1R3G synonymous SNV PPP1R3G:NM_001145115:exon1:c.C747T:p.T249T 242 31 0.114 254 0 0.000 6.38915783634136766e-10 0.645 --- 233,202,31,0.133 212,212,0,0.000 9.136 6.057 chr6 5771549 5771549 C T exonic FARS2 nonsynonymous SNV FARS2:NM_006567:exon7:c.C1243T:p.R415C Score=563;Name=lod=260 0 0.999105 C 1.0 D 0.993 D 0.999994 D 0.999997 D 5.46 130 22 0.145 159 0 0.000 6.25997424878789239e-08 0.682 --- 130,112,18,0.138 133,133,0,0.000 5.786 8.973 chr6 7230882 7230882 C T exonic RREB1 synonymous SNV RREB1:NM_001003698:exon10:c.C2550T:p.C850C,RREB1:NM_001003699:exon10:c.C2550T:p.C850C,RREB1:NM_001003700:exon10:c.C2550T:p.C850C,RREB1:NM_001168344:exon10:c.C2550T:p.C850C 247 58 0.190 255 0 0.000 6.47441689992075787e-17 0.483 --- 269,215,54,0.201 220,220,0,0.000 15.001 60 chr6 7862635 7862635 G A exonic BMP6 nonsynonymous SNV BMP6:NM_001718:exon4:c.G1108A:p.V370M Score=597;Name=lod=357 0.000077 0.0005 rs144134653 0.04 0.999624 C 0.91 T 0.038 B 0.99997 D 0.70318 D 5.25 212 29 0.120 288 0 0.000 4.73628238489512e-11 0.483 --- 187,164,23,0.123 213,212,0,0.000 7.902 9.176 chr6 13228134 13228134 G A exonic PHACTR1 nonsynonymous SNV PHACTR1:NM_001242648:exon9:c.G1073A:p.G358D,PHACTR1:NM_030948:exon9:c.G1073A:p.G358D Score=624;Name=lod=457 0 194 38 0.164 221 0 0.000 2.04768438122969343e-12 0.474 --- 182,151,30,0.166 171,171,0,0.000 9.157 60 chr6 13584411 13584411 G A exonic SIRT5 synonymous SNV SIRT5:NM_001193267:exon3:c.G69A:p.A23A,SIRT5:NM_012241:exon3:c.G69A:p.A23A,SIRT5:NM_031244:exon3:c.G69A:p.A23A 0.000077 91 23 0.202 141 0 0.000 2.33449151140898429e-09 0.391 --- 90,70,20,0.222 112,112,0,0.000 7.591 11.805 chr6 16254801 16254801 C T exonic GMPR synonymous SNV GMPR:NM_006877:exon4:c.C300T:p.A100A ID=COSM1075800;OCCURENCE=1(endometrium) 58 21 0.266 47 0 0.000 2.78361324981574567e-05 0.667 --- 66,47,19,0.288 43,42,0,0.000 4.413 8.635 chr6 17602876 17602876 T C exonic FAM8A1 synonymous SNV FAM8A1:NM_016255:exon2:c.T768C:p.D256D Score=672;Name=lod=718 98 18 0.155 118 0 0.000 1.59096796487551983e-06 0.444 --- 92,78,14,0.152 97,96,0,0.000 4.582 5.777 chr6 24547449 24547449 T C exonic KIAA0319 nonsynonymous SNV KIAA0319:NM_001252328:exon17:c.A1396G:p.M466V,KIAA0319:NM_001168377:exon19:c.A2980G:p.M994V,KIAA0319:NM_001168376:exon20:c.A3028G:p.M1010V,KIAA0319:NM_001168375:exon21:c.A3163G:p.M1055V,KIAA0319:NM_014809:exon21:c.A3163G:p.M1055V,KIAA0319:NM_001168374:exon22:c.A3136G:p.M1046V 0.18 0.756236 N 0.42 T 0.662 P 0.997123 N 8.84E-4 N 0.967 101 20 0.165 116 0 0.000 8.76323630715223038e-07 0.450 --- 98,82,16,0.163 96,96,0,0.000 4.801 60 chr6 25557052 25557052 C T exonic LRRC16A nonsynonymous SNV LRRC16A:NM_001173977:exon29:c.C2716T:p.R906C,LRRC16A:NM_017640:exon29:c.C2716T:p.R906C Score=378;Name=lod=46 0.01 106 24 0.185 112 0 0.000 1.89410390255334453e-07 0.375 --- 116,96,20,0.172 101,101,0,0.000 5.783 9.133 chr6 26184142 26184142 T C exonic HIST1H2BE nonsynonymous SNV HIST1H2BE:NM_003523:exon1:c.T119C:p.V40A Score=619;Name=lod=436 0.01 0.99724 C 0.94 T 0.791 P 0.995902 U 0.005725 N 4.65 473 81 0.146 587 0 0.000 1.49524599960114092e-27 0.630 --- 487,418,67,0.138 508,507,0,0.000 21.908 60 chr6 26273415 26273415 T C exonic HIST1H2BI nonsynonymous SNV HIST1H2BI:NM_003525:exon1:c.T212C:p.F71S Score=734;Name=lod=1284 0.01 0.922022 N 1.0 D 1.0 D 0.859656 NA 0.001882 N 3.17 358 56 0.135 419 0 0.000 1.33137146589379436e-18 0.375 --- 362,311,51,0.141 360,360,0,0.000 15.872 60 chr6 27776032 27776032 C G exonic HIST1H2AI synonymous SNV HIST1H2AI:NM_003509:exon1:c.C45G:p.A15A Score=532;Name=lod=194 Score=0.900943;Name=chr6:27782140 245 33 0.119 288 0 0.000 2.31550713257608705e-11 0.485 --- 220,194,26,0.118 232,232,0,0.000 8.480 14.206 chr6 27778163 27778163 C A exonic HIST1H3H synonymous SNV HIST1H3H:NM_003536:exon1:c.C312A:p.L104L 178 34 0.160 195 1 0.005 1.07505885183102907e-09 0.471 0.000 173,142,31,0.179 163,162,1,0.006 8.259 60 chr6 28358718 28358718 G T exonic ZSCAN12 nonsynonymous SNV ZSCAN12:NM_001163391:exon4:c.C1349A:p.S450Y 0.01 142 16 0.101 193 0 0.000 1.8328192861627787e-06 0.562 --- 138,124,14,0.101 162,162,0,0.000 4.884 4.537 chr6 28963280 28963280 T C exonic ZNF311 nonsynonymous SNV ZNF311:NM_001010877:exon7:c.A1499G:p.Q500R 0.09 1.04E-4 N 0.54 T 0.059 B 0.577043 NA 0.001198 N -4.54 231 27 0.105 212 0 0.000 5.52192041857420938e-08 0.370 --- 220,194,25,0.114 182,182,0,0.000 6.755 7.259 chr6 29054317 29054317 C T exonic OR2B3 nonsynonymous SNV OR2B3:NM_001005226:exon1:c.G709A:p.A237T Score=300;Name=lod=22 0.01 0.89036 N 1.0 D 0.992 D 0.999413 U 0.009933 N 1.32 105 30 0.222 178 0 0.000 1.42231205892511367e-12 0.533 --- 120,94,24,0.203 149,149,0,0.000 9.139 60 chr6 29760305 29760305 G T exonic LOC554223 synonymous SNV LOC554223:NM_001207043:exon2:c.G390T:p.T130T Score=349;Name=lod=35 203 38 0.158 197 0 0.000 4.53470126545190145e-11 0.526 --- 197,167,30,0.152 163,163,0,0.000 8.288 6.663 chr6 29795971 29795971 C T exonic HLA-G nonsynonymous SNV HLA-G:NM_002127:exon3:c.C221T:p.P74L Score=336;Name=lod=31 Score=0.898635;Name=chr6:29971030 0 0.785726 N 1.0 D 0.969 D 0.03537 N 0.039482 N 0.351 203 52 0.204 295 0 0.000 1.97110473020163197e-19 0.423 --- 212,171,41,0.193 253,253,0,0.000 14.995 15.955 chr6 30121872 30121872 G A exonic TRIM10 synonymous SNV TRIM10:NM_006778:exon7:c.C1320T:p.G440G Score=446;Name=lod=87 220 29 0.116 247 0 0.000 1.57392393371012747e-09 0.517 --- 222,197,25,0.113 212,212,0,0.000 7.470 7.43 chr6 30122000 30122000 G A exonic TRIM10 nonsynonymous SNV TRIM10:NM_006778:exon7:c.C1192T:p.P398S Score=369;Name=lod=42 0.03 0.998629 C 0.95 T 0.997 D 0.999987 D 0.734257 D 3.74 237 77 0.245 291 0 0.000 7.85301406456389156e-25 0.532 --- 271,210,61,0.225 256,256,0,0.000 19.221 60 chr6 30154149 30154149 T G exonic TRIM26 nonsynonymous SNV TRIM26:NM_001242783:exon9:c.A1124C:p.E375A,TRIM26:NM_003449:exon10:c.A1124C:p.E375A Score=436;Name=lod=79 0.03 0.996065 C 0.96 D 0.697317 NA 0.987338 N 0.706604 NA 4.58 136 44 0.244 199 0 0.000 2.55579637274250063e-16 0.682 --- 163,123,39,0.241 179,177,0,0.000 13.685 60 chr6 30632765 30632765 G A exonic DHX16 nonsynonymous SNV DHX16:NM_001164239:exon7:c.C950T:p.P317L,DHX16:NM_003587:exon7:c.C1130T:p.P377L Score=358;Name=lod=38 0.2 0.999088 C 0.72 T 0.0030 B 0.997344 N 0.27032 N 4.57 118 28 0.192 141 0 0.000 1.98020593093385417e-09 0.429 --- 128,105,23,0.180 125,125,0,0.000 7.082 60 chr6 30860928 30860928 T C exonic DDR1 nonsynonymous SNV DDR1:NM_001202521:exon8:c.T1183C:p.F395L,DDR1:NM_001202522:exon8:c.T1183C:p.F395L,DDR1:NM_013994:exon8:c.T1183C:p.F395L,DDR1:NM_001202523:exon9:c.T1237C:p.F413L,DDR1:NM_013993:exon10:c.T1183C:p.F395L,DDR1:NM_001954:exon11:c.T1183C:p.F395L Score=454;Name=lod=93 0.13 0.776143 N 0.6 T 0.0010 B 0.964251 N 0.160064 N 1.28 183 32 0.149 189 0 0.000 8.0212603467007085e-10 0.719 --- 181,149,32,0.177 159,158,0,0.000 9.190 12.646 chr6 30891206 30891206 T C exonic VARS2 nonsynonymous SNV VARS2:NM_001167733:exon24:c.T1970C:p.F657S,VARS2:NM_001167734:exon25:c.T2480C:p.F827S,VARS2:NM_020442:exon25:c.T2390C:p.F797S Score=429;Name=lod=74 0 0.994954 C 1.0 D 1.0 D 1.0 D 0.156489 N 4.32 261 57 0.179 314 0 0.000 9.30587782496269141e-19 0.474 --- 263,217,46,0.175 248,248,0,0.000 14.158 15.955 chr6 31692381 31692381 C T exonic C6orf25 stopgain C6orf25:NM_138273:exon3:c.C427T:p.R143X 1 0.955437 C 0.856596 NA 0.612121 NA 0.946357 NA 0.640187 NA 1.99 59 19 0.244 57 0 0.000 1.71127221391281349e-05 0.684 --- 64,48,16,0.250 50,50,0,0.000 4.306 9.048 chr6 31736869 31736869 C T exonic VWA7 nonsynonymous SNV VWA7:NM_025258:exon10:c.G1429A:p.G477R Score=485;Name=lod=125 0 0.997585 C 1.0 D 0.999 D 1.0 D 0.916699 D 4.54 194 31 0.138 202 0 0.000 8.50346231515147416e-10 0.452 --- 184,160,24,0.130 164,164,0,0.000 6.949 12.151 chr6 31740775 31740775 G A exonic VWA7 nonsynonymous SNV VWA7:NM_025258:exon7:c.C1043T:p.P348L Score=325;Name=lod=28 0.02 0.986788 C 0.95 T 0.069 B 0.993018 N 0.166816 N 3.54 202 39 0.162 213 0 0.000 4.98755933874647096e-12 0.538 --- 196,163,33,0.168 179,179,0,0.000 9.893 8.986 chr6 31752080 31752080 C T exonic VARS nonsynonymous SNV VARS:NM_006295:exon13:c.G1582A:p.D528N 0.15 0.160313 N 0.79 T 0.031 B 0.998733 N 0.340145 N -2.36 155 44 0.221 186 0 0.000 1.90472005754591799e-14 0.636 --- 180,142,38,0.211 167,167,0,0.000 11.730 60 chr6 31778497 31778497 C T exonic HSPA1L nonsynonymous SNV HSPA1L:NM_005527:exon2:c.G1253A:p.R418H Score=612;Name=lod=408 0 0.956351 C 1.0 D 0.998 D 0.998345 N 0.999305 D 2.64 173 38 0.180 162 0 0.000 1.24657054695897248e-10 0.421 --- 174,142,32,0.184 145,145,0,0.000 9.014 8.618 chr6 31911268 31911268 G A exonic C2 nonsynonymous SNV C2:NM_001178063:exon8:c.G889A:p.D297N,C2:NM_001145903:exon10:c.G1135A:p.D379N,C2:NM_000063:exon12:c.G1531A:p.D511N 0.000474 rs142802105 0.07 0.003963 N 0.88 T 0.0 B 0.016675 N 0.0 NA -7.63 76 11 0.126 131 0 0.000 2.73367095261903288e-05 0.545 --- 77,66,11,0.143 110,110,0,0.000 4.434 7.431 chr6 32046826 32046826 G A exonic TNXB synonymous SNV TNXB:NM_019105:exon11:c.C4359T:p.S1453S 123 32 0.206 162 0 0.000 1.84137250627279417e-11 0.625 --- 131,103,28,0.214 138,138,0,0.000 9.469 8.124 chr6 32150978 32150978 C A exonic AGER nonsynonymous SNV AGER:NM_001136:exon5:c.G421T:p.V141L,AGER:NM_001206929:exon5:c.G469T:p.V157L,AGER:NM_001206932:exon5:c.G379T:p.V127L,AGER:NM_001206934:exon5:c.G469T:p.V157L,AGER:NM_001206936:exon5:c.G421T:p.V141L,AGER:NM_001206940:exon5:c.G421T:p.V141L,AGER:NM_001206954:exon5:c.G421T:p.V141L,AGER:NM_001206966:exon5:c.G421T:p.V141L,AGER:NM_172197:exon5:c.G379T:p.V127L Score=422;Name=lod=69 0 0.996966 C 0.78 T 0.977 D 0.999971 D 0.011905 N 4.33 146 33 0.184 142 0 0.000 1.2896968598903654e-09 0.697 --- 158,128,30,0.190 132,132,0,0.000 8.469 12.433 chr6 32151990 32151990 C T exonic AGER nonsynonymous SNV AGER:NM_001136:exon1:c.G10A:p.G4R,AGER:NM_001206929:exon1:c.G10A:p.G4R,AGER:NM_001206932:exon1:c.G10A:p.G4R,AGER:NM_001206934:exon1:c.G10A:p.G4R,AGER:NM_001206936:exon1:c.G10A:p.G4R,AGER:NM_001206940:exon1:c.G10A:p.G4R,AGER:NM_001206954:exon1:c.G10A:p.G4R,AGER:NM_001206966:exon1:c.G10A:p.G4R,AGER:NM_172197:exon1:c.G10A:p.G4R Score=363;Name=lod=40 0.01 0.956851 C 1.0 D 0.923 D 0.791742 N 0.255911 N 1.32 166 40 0.194 162 0 0.000 2.52723895829975929e-11 0.325 --- 168,134,34,0.202 144,143,0,0.000 9.792 8.833 chr6 33231829 33231829 T C exonic VPS52 nonsynonymous SNV VPS52:NM_022553:exon15:c.A1576G:p.T526A Score=561;Name=lod=255 ID=COSM1443755;OCCURENCE=1(large_intestine) 0.04 0.996838 C 0.864486 NA 0.641419 NA 1.0 D 0.684162 NA 3.73 109 18 0.142 130 0 0.000 1.60418504575603126e-06 0.333 --- 107,89,18,0.168 103,103,0,0.000 5.435 9.456 chr6 33626459 33626459 A G exonic ITPR3 nonsynonymous SNV ITPR3:NM_002224:exon5:c.A382G:p.K128E Score=560;Name=lod=252 0 0.998142 C 1.0 D 0.987 D 0.999923 D 0.996092 D 4.39 153 25 0.140 174 0 0.000 2.49015852909085441e-08 0.640 --- 150,132,18,0.120 144,144,0,0.000 5.328 15.955 chr6 33656079 33656079 C A exonic ITPR3 nonsynonymous SNV ITPR3:NM_002224:exon48:c.C6439A:p.L2147M Score=587;Name=lod=323 0 0.826632 N 1.0 D 0.61 P 1.0 D 0.830676 D -0.813 185 31 0.144 161 0 0.000 2.35006286601101222e-08 0.452 --- 169,141,27,0.161 135,135,0,0.000 7.329 12.341 chr6 35200711 35200711 G A exonic SCUBE3 nonsynonymous SNV SCUBE3:NM_152753:exon5:c.G554A:p.R185H Score=653;Name=lod=601 0.03 0.999182 C 0.77 T 0.994 D 0.999996 D 0.99653 D 4.66 112 28 0.200 144 0 0.000 5.47512618537600188e-10 0.500 --- 109,90,19,0.174 113,113,0,0.000 6.249 12.463 chr6 35479526 35479526 G A exonic TULP1 nonsynonymous SNV TULP1:NM_003322:exon4:c.C248T:p.A83V 0.02 0.889854 N 0.98 D 0.0040 B 0.011016 N 0.00111 N -0.212 148 40 0.213 179 0 0.000 2.75302140548392744e-13 0.400 --- 156,120,36,0.231 151,151,0,0.000 11.460 10.26 chr6 35715133 35715133 C A exonic ARMC12 synonymous SNV ARMC12:NM_145028:exon4:c.C621A:p.P207P Score=399;Name=lod=56 198 51 0.205 225 0 0.000 4.45335108115456964e-16 0.627 --- 211,163,48,0.227 170,170,0,0.000 13.297 8.279 chr6 36334748 36334748 C T exonic ETV7 nonsynonymous SNV ETV7:NM_001207041:exon5:c.G359A:p.R120Q,ETV7:NM_001207036:exon6:c.G647A:p.R216Q,ETV7:NM_001207038:exon6:c.G581A:p.R194Q,ETV7:NM_001207039:exon6:c.G647A:p.R216Q,ETV7:NM_001207040:exon6:c.G569A:p.R190Q,ETV7:NM_001207035:exon7:c.G812A:p.R271Q,ETV7:NM_001207037:exon7:c.G635A:p.R212Q,ETV7:NM_016135:exon7:c.G812A:p.R271Q Score=420;Name=lod=68 rs112097296 0.861334 N 1.0 D 0.481 P 0.999895 D 0.666795 D 2.27 57 7 0.109 60 0 0.000 0.0133832081983647647 0.000 --- 52,45,7,0.135 51,51,0,0.000 1.900 5.424 chr6 36447438 36447438 A G exonic KCTD20 nonsynonymous SNV KCTD20:NM_173562:exon5:c.A608G:p.D203G Score=612;Name=lod=410 0.998476 C 0.99 D 0.975 D 1.0 D 1.0E-6 N 4.57 65 12 0.156 70 0 0.000 0.000353574839660582819 0.583 --- 63,53,8,0.131 53,53,0,0.000 2.157 8.357 chr6 36931359 36931359 G A exonic PI16 nonsynonymous SNV PI16:NM_153370:exon5:c.G1241A:p.R414H,PI16:NM_001199159:exon6:c.G1241A:p.R414H 0.946301 N 1.0 D 0.995 D 0.99726 N 0.212278 N 1.79 196 53 0.213 235 0 0.000 2.54844419926546745e-17 0.377 --- 216,171,45,0.208 193,193,0,0.000 13.443 13.494 chr6 37616904 37616904 G A exonic MDGA1 nonsynonymous SNV MDGA1:NM_153487:exon9:c.C1748T:p.P583L Score=525;Name=lod=182 0.11 224 55 0.197 326 0 0.000 1.35659447889614557e-20 0.509 --- 247,199,47,0.191 266,266,0,0.000 16.057 14.436 chr6 37626122 37626122 C T exonic MDGA1 nonsynonymous SNV MDGA1:NM_153487:exon3:c.G281A:p.R94H Score=573;Name=lod=283 0.03 131 43 0.247 184 0 0.000 1.6015062663960936e-15 0.395 --- 137,105,32,0.234 145,145,0,0.000 10.948 60 chr6 39895203 39895203 A G exonic MOCS1 nonsynonymous SNV MOCS1:NM_005943:exon1:c.T115C:p.S39P 0.23 0.066065 N 0.81 T 0.011 B 0.58197 NA 1.2E-5 N -2.69 182 35 0.161 246 0 0.000 6.22019227117437119e-13 0.400 --- 194,160,34,0.175 209,209,0,0.000 11.508 11.518 chr6 41129194 41129194 C T exonic TREM2 synonymous SNV TREM2:NM_001271821:exon2:c.G198A:p.T66T,TREM2:NM_018965:exon2:c.G198A:p.T66T 156 28 0.152 235 0 0.000 2.83973275518946384e-11 0.429 --- 157,131,26,0.166 201,201,0,0.000 9.856 12.597 chr6 41753253 41753253 G A exonic PRICKLE4 nonsynonymous SNV PRICKLE4:NM_013397:exon6:c.G557A:p.R186H Score=371;Name=lod=43 0 0.985278 C 0.99 D 1.0 D 0.978729 N 0.269379 N 2.84 148 39 0.209 155 0 0.000 1.18092383462040939e-11 0.385 --- 161,129,31,0.194 129,129,0,0.000 8.358 12.694 chr6 42934347 42934347 G A exonic PEX6 synonymous SNV PEX6:NM_000287:exon10:c.C2010T:p.A670A 159 21 0.117 171 0 0.000 5.85255520673207874e-07 0.524 --- 151,134,17,0.113 149,149,0,0.000 5.022 11.43 chr6 42974666 42974666 C T exonic PPP2R5D nonsynonymous SNV PPP2R5D:NM_006245:exon4:c.C340T:p.R114W Score=547;Name=lod=222 0.979957 C 0.96 D 0.998 D 0.999997 D 0.781194 NA 3.43 130 16 0.110 133 1 0.007 0.000225119695574205764 0.500 0.000 123,108,15,0.122 111,110,1,0.009 3.359 4.886 chr6 43128616 43128616 G A exonic PTK7 synonymous SNV PTK7:NM_152881:exon17:c.G2820A:p.P940P,PTK7:NM_152880:exon19:c.G3090A:p.P1030P,PTK7:NM_152882:exon19:c.G3042A:p.P1014P,PTK7:NM_001270398:exon20:c.G3234A:p.P1078P,PTK7:NM_002821:exon20:c.G3210A:p.P1070P Score=467;Name=lod=105 173 40 0.188 224 0 0.000 4.13631174883443244e-14 0.475 --- 180,148,31,0.173 186,186,0,0.000 10.222 6.981 chr6 43419706 43419706 G A exonic DLK2 nonsynonymous SNV DLK2:NM_023932:exon5:c.C388T:p.R130C,DLK2:NM_206539:exon5:c.C388T:p.R130C Score=425;Name=lod=71 0.01 0.999444 C 0.97 D 0.972 D 0.990779 N 0.435572 N 4.43 271 50 0.156 331 0 0.000 5.01786556867840537e-17 0.460 --- 257,216,41,0.160 276,276,0,0.000 13.768 9.38 chr6 43483339 43483339 C T exonic YIPF3 nonsynonymous SNV YIPF3:NM_015388:exon3:c.G389A:p.R130Q Score=615;Name=lod=421 0.000154 0.01 0.999086 C 0.96 D 0.991 D 1.0 D 0.999737 D 5.44 115 23 0.167 138 0 0.000 8.77674131959293531e-08 0.435 --- 106,91,15,0.142 112,112,0,0.000 4.935 5.514 chr6 43527980 43527980 G A exonic XPO5 nonsynonymous SNV XPO5:NM_020750:exon11:c.C1156T:p.R386C Score=561;Name=lod=254 0 123 23 0.158 167 0 0.000 8.86836372112515534e-09 0.435 --- 112,95,17,0.152 131,131,0,0.000 6.025 13.981 chr6 44217280 44217280 T C exonic HSP90AB1 nonsynonymous SNV HSP90AB1:NM_001271969:exon3:c.T314C:p.I105T,HSP90AB1:NM_001271970:exon3:c.T314C:p.I105T,HSP90AB1:NM_001271972:exon3:c.T314C:p.I105T,HSP90AB1:NM_007355:exon3:c.T314C:p.I105T Score=610;Name=lod=401 0.01 0.992655 C 0.99 D 0.483 P 0.999999 U 1.0 D 3.6 94 13 0.121 121 0 0.000 3.55232203050958983e-05 0.154 --- 99,87,12,0.121 107,107,0,0.000 3.978 12.131 chr6 44233087 44233087 C A exonic NFKBIE synonymous SNV NFKBIE:NM_004556:exon1:c.G414T:p.A138A Score=444;Name=lod=85 246 56 0.185 273 0 0.000 1.72574823606418131e-17 0.500 --- 263,215,48,0.183 232,231,1,0.004 12.712 4.66 chr6 44243254 44243254 C T exonic TMEM151B nonsynonymous SNV TMEM151B:NM_001137560:exon3:c.C691T:p.R231W Score=601;Name=lod=370 0 279 73 0.207 395 0 0.000 1.71333687856182321e-26 0.493 --- 296,235,60,0.203 335,335,0,0.000 21.312 60 chr6 45390451 45390451 G A exonic RUNX2 synonymous SNV RUNX2:NM_004348:exon1:c.G138A:p.Q46Q,RUNX2:NM_001015051:exon3:c.G180A:p.Q60Q,RUNX2:NM_001024630:exon3:c.G180A:p.Q60Q Score=729;Name=lod=1220 227 39 0.147 247 0 0.000 1.84169857358663239e-12 0.615 --- 221,191,30,0.136 208,207,0,0.000 9.006 5.602 chr6 46047717 46047717 T C exonic CLIC5 nonsynonymous SNV CLIC5:NM_001114086:exon1:c.A263G:p.Y88C 0.15 103 38 0.270 142 0 0.000 1.75628933510566392e-13 0.368 --- 122,91,30,0.248 119,119,0,0.000 9.613 15.477 chr6 46047960 46047960 C A exonic CLIC5 nonsynonymous SNV CLIC5:NM_001114086:exon1:c.G20T:p.S7I 0 92 13 0.124 99 0 0.000 0.000174932870468857354 0.385 --- 85,75,10,0.118 83,83,0,0.000 2.830 7.853 chr6 46107996 46107996 C T exonic ENPP4 synonymous SNV ENPP4:NM_014936:exon2:c.C676T:p.L226L 83 17 0.170 123 0 0.000 5.30105937895626867e-07 0.353 --- 85,70,15,0.176 111,111,0,0.000 5.774 12.999 chr6 51524533 51524533 G T exonic PKHD1 nonsynonymous SNV PKHD1:NM_138694:exon61:c.C10391A:p.P3464H Score=395;Name=lod=54 0 0.999643 C 0.86 T 0.999 D 1.0 D 0.175154 N 5.28 90 22 0.196 129 0 0.000 1.40729119169156971e-08 0.455 --- 100,80,20,0.200 114,113,1,0.009 5.764 15.0 chr6 56350237 56350237 G T exonic DST nonsynonymous SNV DST:NM_015548:exon69:c.C13211A:p.S4404Y,DST:NM_183380:exon79:c.C14189A:p.S4730Y,DST:NM_001144770:exon80:c.C14309A:p.S4770Y,DST:NM_001144769:exon82:c.C14723A:p.S4908Y Score=662;Name=lod=655 0 101 31 0.235 153 0 0.000 5.12072129543248845e-12 0.452 --- 110,85,25,0.227 125,124,1,0.008 7.750 60 chr6 56716238 56716238 G A exonic DST synonymous SNV DST:NM_001144770:exon2:c.C168T:p.G56G,DST:NM_001144769:exon4:c.C582T:p.G194G Score=613;Name=lod=412 107 21 0.164 166 0 0.000 9.54715856521895335e-09 0.667 --- 113,95,18,0.159 142,142,0,0.000 6.717 6.682 chr6 70049307 70049307 C T exonic BAI3 nonsynonymous SNV BAI3:NM_001704:exon26:c.C3370T:p.R1124C Score=586;Name=lod=322 ID=COSM96306;OCCURENCE=1(lung) 0 0.999032 C 1.0 D 1.0 D 1.0 D 0.525779 D 4.5 162 32 0.165 200 0 0.000 3.46589328312655463e-11 0.531 --- 151,130,21,0.139 155,155,0,0.000 6.770 12.814 chr6 70423555 70423555 G A exonic LMBRD1 synonymous SNV LMBRD1:NM_018368:exon9:c.C897T:p.G299G Score=629;Name=lod=480 99 13 0.116 166 0 0.000 4.74890530618414147e-06 0.462 --- 91,79,12,0.132 134,134,0,0.000 4.917 4.394 chr6 72892103 72892103 G A exonic RIMS1 nonsynonymous SNV RIMS1:NM_014989:exon6:c.G929A:p.R310H Score=485;Name=lod=125 ID=COSM1176477;OCCURENCE=1(endometrium) 0.34 163 37 0.185 248 1 0.004 3.10943747460101409e-13 0.405 0.000 171,137,33,0.194 204,203,1,0.005 10.796 12.297 chr6 74210450 74210450 G T exonic MTO1 stopgain MTO1:NM_012123:exon12:c.G2071T:p.E691X,MTO1:NM_001123226:exon13:c.G2191T:p.E731X,MTO1:NM_133645:exon13:c.G2146T:p.E716X 0.02 0.800946 N 0.777398 NA 0.26198 NA 0.179284 N 6.94E-4 N 0.919 88 10 0.102 121 0 0.000 0.000246707098195997012 0.100 --- 86,76,10,0.116 109,108,1,0.009 2.565 6.886 chr6 76660364 76660364 C T exonic IMPG1 nonsynonymous SNV IMPG1:NM_001563:exon13:c.G1739A:p.R580H Score=470;Name=lod=108 0.000077 0.0009 rs80190180 0 0.847956 N 0.952475 NA 1.0 D 0.988284 N 0.994648 D 2.01 94 26 0.217 138 0 0.000 4.49730954966895389e-10 0.654 --- 99,78,21,0.212 109,109,0,0.000 7.310 14.557 chr6 79770253 79770253 C T exonic PHIP synonymous SNV PHIP:NM_017934:exon6:c.G381A:p.A127A 0.000077 93 16 0.147 138 1 0.007 1.05792031193038188e-05 0.438 0.000 94,78,14,0.152 114,113,1,0.009 4.188 12.239 chr6 84417617 84417617 G A exonic SNAP91 synonymous SNV SNAP91:NM_001242792:exon2:c.C30T:p.I10I,SNAP91:NM_001242793:exon2:c.C30T:p.I10I,SNAP91:NM_001242794:exon2:c.C30T:p.I10I,SNAP91:NM_014841:exon2:c.C30T:p.I10I Score=566;Name=lod=267 123 29 0.191 188 0 0.000 1.42596746387394977e-11 0.414 --- 124,100,23,0.187 150,150,0,0.000 8.503 60 chr6 85446531 85446531 G A exonic TBX18 nonsynonymous SNV TBX18:NM_001080508:exon8:c.C1696T:p.R566W Score=679;Name=lod=764 ID=COSM1267508;OCCURENCE=1(oesophagus) 0 0.988198 C 1.0 D 0.999 D 0.99996 D 0.998019 D 2.46 194 37 0.160 256 0 0.000 1.99793781524372926e-13 0.541 --- 198,164,34,0.172 223,223,0,0.000 11.851 8.686 chr6 86181104 86181104 G A exonic NT5E nonsynonymous SNV NT5E:NM_001204813:exon3:c.G712A:p.V238I,NT5E:NM_002526:exon3:c.G712A:p.V238I Score=627;Name=lod=473 0.46 0.939191 N 0.37 T 0.0030 B 0.999994 N 0.192892 N 2.61 112 13 0.104 150 0 0.000 2.47220128263510042e-05 0.462 --- 105,96,9,0.086 120,120,0,0.000 3.062 8.934 chr6 87968697 87968697 T C exonic ZNF292 nonsynonymous SNV ZNF292:NM_015021:exon8:c.T5350C:p.S1784P Score=700;Name=lod=930 0.25 176 25 0.124 165 0 0.000 1.79581950814166541e-07 0.480 --- 168,147,21,0.125 140,140,0,0.000 5.615 7.511 chr6 87970633 87970633 G T exonic ZNF292 nonsynonymous SNV ZNF292:NM_015021:exon8:c.G7286T:p.R2429L 0.02 153 22 0.126 179 1 0.006 1.18079301021619424e-06 0.545 1.000 148,129,19,0.128 163,162,1,0.006 5.230 9.355 chr6 88272496 88272496 C T exonic RARS2 nonsynonymous SNV RARS2:NM_020320:exon4:c.G221A:p.C74Y Score=566;Name=lod=265 0.04 0.998773 C 0.96 D 0.998 D 0.999983 D 0.992985 D 5.16 52 6 0.103 69 0 0.000 0.00782982920623977993 0.667 --- 46,39,6,0.133 56,56,0,0.000 2.192 4.392 chr6 91260225 91260225 T A exonic MAP3K7 nonsynonymous SNV MAP3K7:NM_003188:exon9:c.A911T:p.Y304F,MAP3K7:NM_145331:exon9:c.A911T:p.Y304F,MAP3K7:NM_145332:exon9:c.A911T:p.Y304F,MAP3K7:NM_145333:exon9:c.A911T:p.Y304F Score=604;Name=lod=381 0.26 0.969872 C 0.89 T 0.84 P 1.0 N 0.998148 D 4.22 37 12 0.245 68 0 0.000 1.20384181916712631e-05 0.417 --- 42,33,9,0.214 51,51,0,0.000 3.334 12.501 chr6 99347213 99347213 A C exonic FBXL4 synonymous SNV FBXL4:NM_012160:exon6:c.T1248G:p.P416P Score=713;Name=lod=1057 94 22 0.190 136 0 0.000 1.18397887233670717e-08 0.500 --- 108,87,20,0.187 124,123,0,0.000 7.100 60 chr6 99739589 99739589 G C exonic FAXC nonsynonymous SNV FAXC:NM_032511:exon5:c.C931G:p.L311V Score=469;Name=lod=107 0.09 0.99458 C 0.86 T 0.889 D 0.999998 D 0.138737 N 3.27 67 21 0.239 60 0 0.000 6.48760650500144274e-06 0.476 --- 77,61,15,0.197 54,54,0,0.000 3.737 7.126 chr6 99849271 99849271 A G exonic PNISR synonymous SNV PNISR:NM_015491:exon11:c.T1563C:p.N521N,PNISR:NM_032870:exon12:c.T1563C:p.N521N Score=676;Name=lod=743 70 11 0.136 94 0 0.000 0.000141480418953145446 0.636 --- 73,64,9,0.123 82,82,0,0.000 3.063 11.025 chr6 100895161 100895161 G A exonic SIM1 synonymous SNV SIM1:NM_005068:exon8:c.C981T:p.S327S Score=596;Name=lod=352 127 34 0.211 178 0 0.000 1.31268238966094007e-12 0.618 --- 140,110,30,0.214 149,149,0,0.000 10.222 8.882 chr6 101054710 101054710 G T exonic ASCC3 synonymous SNV ASCC3:NM_006828:exon32:c.C4950A:p.A1650A Score=685;Name=lod=810 141 25 0.151 184 0 0.000 2.85526203090109455e-09 0.400 --- 139,118,21,0.151 162,162,0,0.000 7.427 4.732 chr6 102337618 102337618 G A exonic GRIK2 nonsynonymous SNV GRIK2:NM_001166247:exon11:c.G1628A:p.R543H,GRIK2:NM_021956:exon11:c.G1628A:p.R543H,GRIK2:NM_175768:exon11:c.G1628A:p.R543H Score=806;Name=lod=2515 0.000384 rs141189363 0.02 0.999628 C 0.95 T 0.264 P 0.999999 D 0.905246 D 5.25 65 10 0.133 106 0 0.000 0.000102661965718451542 0.700 --- 64,55,9,0.141 91,88,2,0.022 2.082 9.278 chr6 102372501 102372501 C A exonic GRIK2 nonsynonymous SNV GRIK2:NM_001166247:exon12:c.C1774A:p.P592T,GRIK2:NM_021956:exon12:c.C1774A:p.P592T,GRIK2:NM_175768:exon12:c.C1774A:p.P592T Score=765;Name=lod=1706 ID=COSM1544822,COSM1544821;OCCURENCE=1(lung) 0 0.999067 C 0.99 D 0.712 P 1.0 D 0.976868 D 5.43 47 9 0.161 56 0 0.000 0.0027576234384088281 0.556 --- 47,39,8,0.170 47,47,0,0.000 2.248 4.844 chr6 108502793 108502793 T C exonic NR2E1 synonymous SNV NR2E1:NM_003269:exon8:c.T933C:p.A311A Score=579;Name=lod=301 84 12 0.125 103 0 0.000 0.0001088039377059108 0.583 --- 74,65,9,0.122 82,82,0,0.000 3.033 7.603 chr6 112382419 112382419 T C exonic WISP3 nonsynonymous SNV WISP3:NM_198239:exon2:c.T328C:p.C110R,WISP3:NM_003880:exon3:c.T274C:p.C92R Score=399;Name=lod=56 0 0.995069 C 1.0 D 0.999 D 1.0 D 0.986929 D 4.35 212 52 0.197 279 0 0.000 2.95588572421812719e-18 0.404 --- 214,173,41,0.192 222,222,0,0.000 13.609 14.176 chr6 114178955 114178955 G A exonic MARCKS nonsynonymous SNV MARCKS:NM_002356:exon1:c.G34A:p.G12R Score=710;Name=lod=1023 0.01 0.999711 C 0.97 D 0.992 D 0.997875 N 0.815968 D 4.36 105 12 0.103 133 0 0.000 8.05326029896310855e-05 0.417 --- 90,81,9,0.100 106,106,0,0.000 3.141 6.063 chr6 116381389 116381389 A T exonic FRK nonsynonymous SNV FRK:NM_002031:exon1:c.T86A:p.I29N Score=259;Name=lod=15 0.28 0.976068 C 0.98 D 0.985 D 0.909641 N 0.198907 N 3.73 93 19 0.170 144 0 0.000 5.92922939147735533e-08 0.421 --- 95,79,16,0.168 119,119,0,0.000 5.975 5.596 chr6 116600140 116600140 T C exonic TSPYL1 nonsynonymous SNV TSPYL1:NM_003309:exon1:c.A854G:p.N285S Score=369;Name=lod=42 0.01 0.997693 C 1.0 D 0.995 D 0.999187 N 0.995165 D 4.07 201 56 0.218 246 0 0.000 1.83401322107142323e-18 0.554 --- 225,180,44,0.196 228,227,0,0.000 14.397 13.796 chr6 117150119 117150119 G A exonic GPRC6A nonsynonymous SNV GPRC6A:NM_148963:exon1:c.C58T:p.P20S Score=567;Name=lod=270 0.7 0.959358 C 0.82 T 0.0010 B 0.972836 N 0.002902 N 2.78 93 19 0.170 137 0 0.000 1.02411081567767171e-07 0.474 --- 94,80,14,0.149 114,112,0,0.000 5.016 10.86 chr6 117739653 117739653 A G exonic ROS1 nonsynonymous SNV ROS1:NM_002944:exon2:c.T140C:p.L47P 0.05 0.05754 N 1.0 D 0.011 B 0.233183 N 6.14E-4 N -5.03 53 6 0.102 61 0 0.000 0.012335235097383435 0.500 --- 45,40,5,0.111 50,50,0,0.000 1.676 6.083 chr6 117894769 117894769 C A exonic GOPC nonsynonymous SNV GOPC:NM_001017408:exon4:c.G653T:p.R218L,GOPC:NM_020399:exon5:c.G677T:p.R226L Score=669;Name=lod=695 0 0.999247 C 1.0 D 0.787412 NA 1.0 D 0.992806 D 5.62 74 15 0.169 102 0 0.000 5.34161076847455447e-06 0.333 --- 77,64,12,0.158 90,90,0,0.000 4.292 12.123 chr6 126210851 126210851 A G exonic NCOA7 nonsynonymous SNV NCOA7:NM_001199621:exon8:c.A1306G:p.I436V,NCOA7:NM_001122842:exon9:c.A1618G:p.I540V,NCOA7:NM_181782:exon9:c.A1651G:p.I551V,NCOA7:NM_001199619:exon10:c.A1651G:p.I551V,NCOA7:NM_001199620:exon11:c.A1651G:p.I551V 0 0.199972 N 0.98 D 0.0010 B 0.346225 N 0.001476 N -2.35 147 33 0.183 231 0 0.000 2.41034596835328722e-13 0.394 --- 154,123,31,0.201 213,212,0,0.000 12.495 60 chr6 127608261 127608261 G A exonic RNF146 nonsynonymous SNV RNF146:NM_001242849:exon3:c.G503A:p.R168Q,RNF146:NM_001242850:exon3:c.G503A:p.R168Q,RNF146:NM_001242851:exon3:c.G503A:p.R168Q,RNF146:NM_001242844:exon5:c.G500A:p.R167Q,RNF146:NM_001242845:exon5:c.G500A:p.R167Q,RNF146:NM_001242846:exon5:c.G500A:p.R167Q,RNF146:NM_001242852:exon5:c.G500A:p.R167Q,RNF146:NM_030963:exon5:c.G500A:p.R167Q Score=683;Name=lod=796 0 0.992823 C 0.99 D 1.0 D 1.0 D 0.999925 D 4.5 122 18 0.129 141 0 0.000 1.9924668446940704e-06 0.389 --- 125,111,14,0.112 125,125,0,0.000 4.081 13.241 chr6 128403695 128403695 T A exonic PTPRK nonsynonymous SNV PTPRK:NM_001135648:exon10:c.A1664T:p.H555L,PTPRK:NM_002844:exon10:c.A1664T:p.H555L Score=610;Name=lod=400 0.03 0.998185 C 0.7 T 0.775 P 1.0 D 0.296805 N 5.41 130 22 0.145 160 0 0.000 5.81856580816823327e-08 0.500 --- 120,101,19,0.158 123,123,0,0.000 6.162 9.432 chr6 133789719 133789719 A G exonic EYA4 nonsynonymous SNV EYA4:NM_172103:exon10:c.A751G:p.T251A,EYA4:NM_004100:exon11:c.A820G:p.T274A,EYA4:NM_172105:exon11:c.A820G:p.T274A Score=617;Name=lod=430 0.1 0.920938 N 0.87 T 0.769 P 1.0 D 0.975362 D 2.84 56 9 0.138 75 0 0.000 0.000729988433633662306 0.667 --- 51,45,6,0.118 61,61,0,0.000 2.123 8.536 chr6 135644391 135644391 T C exonic AHI1 synonymous SNV AHI1:NM_001134830:exon23:c.A3237G:p.R1079R,AHI1:NM_017651:exon24:c.A3237G:p.R1079R,AHI1:NM_001134831:exon25:c.A3237G:p.R1079R Score=705;Name=lod=975 141 17 0.108 139 0 0.000 1.57287588830476768e-05 0.412 --- 119,104,15,0.126 115,115,0,0.000 4.407 8.547 chr6 135774505 135774505 G A exonic AHI1 nonsynonymous SNV AHI1:NM_001134830:exon9:c.C1414T:p.R472W,AHI1:NM_001134832:exon10:c.C1414T:p.R472W,AHI1:NM_017651:exon10:c.C1414T:p.R472W,AHI1:NM_001134831:exon11:c.C1414T:p.R472W Score=600;Name=lod=366 0 92 14 0.132 119 0 0.000 1.63395766273214766e-05 0.357 --- 84,71,13,0.155 91,91,0,0.000 4.370 7.407 chr6 136589449 136589449 G A exonic BCLAF1 stopgain BCLAF1:NM_001077440:exon10:c.C2242T:p.R748X,BCLAF1:NM_001077441:exon10:c.C1729T:p.R577X,BCLAF1:NM_014739:exon10:c.C2248T:p.R750X Score=683;Name=lod=793 0.000384 rs147719127 1 0.986229 C 0.90277 NA 0.733276 NA 0.999893 D 1.0 A 4.14 120 25 0.172 120 0 0.000 1.22740145426197141e-07 0.280 --- 121,99,22,0.182 102,102,0,0.000 6.076 6.286 chr6 137245339 137245339 C T exonic SLC35D3 synonymous SNV SLC35D3:NM_001008783:exon2:c.C756T:p.A252A 262 66 0.201 374 0 0.000 3.22908205831889979e-24 0.500 --- 283,223,60,0.212 331,330,0,0.000 21.773 60 chr6 138566689 138566689 T C exonic KIAA1244 nonsynonymous SNV KIAA1244:NM_020340:exon8:c.T626C:p.V209A Score=361;Name=lod=39 0.01 83 11 0.117 90 0 0.000 0.000731910187704094586 0.727 --- 76,66,10,0.132 73,73,0,0.000 2.841 6.123 chr6 138753202 138753202 G A exonic NHSL1 synonymous SNV NHSL1:NM_020464:exon5:c.C2292T:p.C764C,NHSL1:NM_001144060:exon6:c.C2280T:p.C760C 126 20 0.137 159 0 0.000 1.92927886822604778e-07 0.400 --- 133,116,17,0.128 142,141,0,0.000 5.580 6.573 chr6 139563703 139563703 G A exonic TXLNB nonsynonymous SNV TXLNB:NM_153235:exon10:c.C2015T:p.P672L 0.000077 rs148731239 1 0.191412 N 0.689077 NA 0.0 B 0.298043 N 0.007819 N 0.908 176 23 0.116 208 0 0.000 3.57946767002349605e-08 0.565 --- 168,148,20,0.119 176,176,0,0.000 6.492 3.073 chr6 143753650 143753650 G A exonic ADAT2 nonsynonymous SNV ADAT2:NM_182503:exon4:c.C451T:p.P151S 0.71 0.999692 C 0.36 T 0.0010 B 0.987882 N 0.219874 N 4.25 126 22 0.149 156 0 0.000 5.58887326232291684e-08 0.636 --- 118,102,16,0.136 124,123,0,0.000 5.203 60 chr6 146350828 146350828 G A exonic GRM1 nonsynonymous SNV GRM1:NM_000838:exon2:c.G175A:p.A59T,GRM1:NM_001114329:exon2:c.G175A:p.A59T Score=651;Name=lod=588 0.12 0.999611 C 0.79 T 0.0050 B 1.0 D 0.994954 D 5.22 129 34 0.209 171 0 0.000 3.57275710662032073e-12 0.559 --- 135,106,29,0.215 143,143,0,0.000 9.850 14.386 chr6 151669923 151669923 G A exonic AKAP12 nonsynonymous SNV AKAP12:NM_144497:exon2:c.G103A:p.D35N,AKAP12:NM_005100:exon4:c.G397A:p.D133N Score=251;Name=lod=14 0.000154 rs200778076 0.01 0.999697 C 0.99 D 0.978 D 0.999601 D 0.697807 D 5.09 107 23 0.177 104 0 0.000 5.8486719829723801e-07 0.826 --- 114,94,19,0.168 88,88,0,0.000 5.000 8.61 chr6 151669964 151669964 C T exonic AKAP12 synonymous SNV AKAP12:NM_144497:exon2:c.C144T:p.I48I,AKAP12:NM_005100:exon4:c.C438T:p.I146I 134 38 0.221 135 0 0.000 3.80588592925608578e-11 0.684 --- 138,109,28,0.204 109,109,0,0.000 7.462 60 chr6 151672588 151672588 C T exonic AKAP12 nonsynonymous SNV AKAP12:NM_144497:exon2:c.C2768T:p.P923L,AKAP12:NM_005100:exon4:c.C3062T:p.P1021L Score=355;Name=lod=37 0 0.998412 C 1.0 D 0.996 D 0.999591 D 0.932814 D 4.59 212 43 0.169 261 0 0.000 9.72304938717858276e-15 0.465 --- 220,183,37,0.168 223,223,0,0.000 11.970 60 chr6 152265340 152265340 T C exonic ESR1 synonymous SNV ESR1:NM_000125:exon4:c.T793C:p.L265L,ESR1:NM_001122740:exon5:c.T793C:p.L265L,ESR1:NM_001122741:exon5:c.T793C:p.L265L,ESR1:NM_001122742:exon6:c.T793C:p.L265L Score=558;Name=lod=247 81 21 0.206 134 0 0.000 6.11942993745008641e-09 0.905 --- 93,73,20,0.215 115,115,0,0.000 7.539 15.256 chr6 152644768 152644768 G A exonic SYNE1 synonymous SNV SYNE1:NM_033071:exon81:c.C15549T:p.H5183H,SYNE1:NM_182961:exon82:c.C15762T:p.H5254H 184 49 0.210 256 0 0.000 8.76806061273039519e-18 0.347 --- 198,158,40,0.202 220,219,0,0.000 13.937 60 chr6 152725360 152725360 C T exonic SYNE1 synonymous SNV SYNE1:NM_033071:exon46:c.G6834A:p.P2278P,SYNE1:NM_182961:exon46:c.G6813A:p.P2271P Score=513;Name=lod=162 0.0005 rs138911730 65 8 0.110 76 0 0.000 0.00270094310825623022 0.750 --- 57,51,6,0.105 61,61,0,0.000 1.958 3.648 chr6 152755077 152755077 A G exonic SYNE1 synonymous SNV SYNE1:NM_033071:exon34:c.T4335C:p.I1445I,SYNE1:NM_182961:exon34:c.T4314C:p.I1438I Score=633;Name=lod=500 90 23 0.204 119 0 0.000 1.82004448811606821e-08 0.304 --- 98,78,20,0.204 99,98,0,0.000 6.188 12.556 chr6 155154419 155154419 C T exonic SCAF8 nonsynonymous SNV SCAF8:NM_014892:exon20:c.C3706T:p.L1236F Score=712;Name=lod=1040 0 0.998899 C 1.0 D 0.774468 NA 0.959285 U 0.969224 D 5.27 104 18 0.148 133 0 0.000 8.5265003441711202e-07 0.500 --- 112,97,15,0.134 122,122,0,0.000 5.027 11.511 chr6 160412343 160412343 T C exonic IGF2R nonsynonymous SNV IGF2R:NM_000876:exon2:c.T277C:p.Y93H 0.26 0.997136 C 0.74 T 0.0 B 0.723874 N 0.009593 N 4.59 78 23 0.228 102 0 0.000 2.57249005356378888e-08 0.435 --- 81,63,18,0.222 84,84,0,0.000 6.031 11.996 chr6 160577038 160577038 G A exonic SLC22A1 nonsynonymous SNV SLC22A1:NM_153187:exon9:c.G1417A:p.A473T Score=289;Name=lod=20 ID=COSM1441978;OCCURENCE=1(large_intestine) 0 0.023226 N 1.0 D 0.367011 NA 0.581018 NA 1.1E-5 N -8.3 84 38 0.311 144 0 0.000 3.42392656803032727e-15 0.763 --- 104,69,35,0.337 114,114,0,0.000 12.813 60 chr6 161020554 161020554 T C exonic LPA nonsynonymous SNV LPA:NM_005577:exon21:c.A3265G:p.T1089A 0.07 0.964521 C 0.78 T 0.962 D 0.878156 NA 0.00356 N 1.3 94 11 0.105 174 0 0.000 1.52289955025996622e-05 0.545 --- 89,79,10,0.112 142,142,0,0.000 4.284 3.532 chr6 161143600 161143600 G A splicing PLG NM_000301:exon10:c.1256+1G>A Score=395;Name=lod=54 ID=COSM1442018;OCCURENCE=1(large_intestine) 64 9 0.123 98 0 0.000 0.000349076706385202393 0.222 --- 66,57,9,0.136 80,79,0,0.000 3.214 5.09 chr6 162394337 162394337 A G exonic PARK2 nonsynonymous SNV PARK2:NM_013988:exon3:c.T284C:p.V95A,PARK2:NM_013987:exon5:c.T647C:p.V216A,PARK2:NM_004562:exon6:c.T731C:p.V244A 0.05 0.914499 N 0.89 T 0.252 P 0.489444 N 0.0 N 2.0 56 11 0.164 68 0 0.000 0.000287155744090483275 0.636 --- 56,46,9,0.164 53,52,0,0.000 2.553 8.709 chr6 168479600 168479600 G A exonic FRMD1 synonymous SNV FRMD1:NM_024919:exon1:c.C175T:p.L59L Score=289;Name=lod=20 154 31 0.168 178 0 0.000 2.78434039331957687e-10 0.581 --- 164,134,29,0.178 150,149,0,0.000 8.721 11.594 chr7 780574 780574 A C exonic HEATR2 nonsynonymous SNV HEATR2:NM_017802:exon3:c.A899C:p.E300A 0.01 0.960829 C 0.98 D 0.997 D 0.869322 N 0.951731 D 3.53 134 35 0.207 200 0 0.000 1.61475355060132485e-13 0.429 --- 141,111,30,0.213 168,168,0,0.000 11.035 60 chr7 1272839 1272839 C T exonic UNCX synonymous SNV UNCX:NM_001080461:exon1:c.C186T:p.C62C Score=808;Name=lod=2566 209 47 0.184 215 2 0.009 1.20532583841484237e-11 0.447 0.500 202,162,39,0.194 179,178,1,0.006 10.212 6.438 chr7 1516084 1516084 C T exonic INTS1 nonsynonymous SNV INTS1:NM_001080453:exon38:c.G5159A:p.R1720Q Score=489;Name=lod=129 0.31 106 36 0.254 152 0 0.000 3.02935540151487664e-13 0.500 --- 126,95,31,0.246 128,128,0,0.000 10.360 14.507 chr7 1520054 1520054 T G exonic INTS1 nonsynonymous SNV INTS1:NM_001080453:exon30:c.A3973C:p.K1325Q Score=300;Name=lod=22 0.33 104 23 0.181 99 0 0.000 7.12093213343563239e-07 0.217 --- 115,93,21,0.184 96,95,1,0.010 4.780 7.847 chr7 1579704 1579704 G A exonic MAFK nonsynonymous SNV MAFK:NM_002360:exon3:c.G164A:p.R55H Score=554;Name=lod=238 0 0.984655 C 1.0 D 1.0 D 0.999999 D 0.999986 D 3.63 197 49 0.199 189 0 0.000 1.35781926441976524e-13 0.673 --- 199,160,39,0.196 154,154,0,0.000 10.293 60 chr7 2473392 2473392 C T exonic CHST12 nonsynonymous SNV CHST12:NM_001243794:exon2:c.C1118T:p.A373V,CHST12:NM_001243795:exon2:c.C1118T:p.A373V,CHST12:NM_018641:exon2:c.C1118T:p.A373V Score=522;Name=lod=176 0.32 0.998408 C 0.68 T 0.013 B 0.999952 D 0.505667 NA 4.92 157 29 0.156 146 0 0.000 2.61310163705595229e-08 0.552 --- 162,137,25,0.154 127,127,0,0.000 6.371 12.657 chr7 2579241 2579241 G T exonic BRAT1 nonsynonymous SNV BRAT1:NM_152743:exon12:c.C1534A:p.P512T Score=498;Name=lod=141 0.23 0.993394 C 0.77 T 0.649344 NA 0.999981 D 0.952457 D 4.2 135 23 0.146 162 0 0.000 3.7270739119204768e-08 0.565 --- 141,119,22,0.156 147,147,0,0.000 7.217 8.675 chr7 2580949 2580949 G A exonic BRAT1 nonsynonymous SNV BRAT1:NM_152743:exon9:c.C1304T:p.T435M 0 0.857777 N 0.99 D 0.548111 NA 0.994828 N 0.043698 N 1.08 224 61 0.214 254 0 0.000 4.52137525448035784e-19 0.705 --- 241,188,53,0.220 213,213,0,0.000 15.871 7.975 chr7 2581089 2581089 C T exonic BRAT1 synonymous SNV BRAT1:NM_152743:exon9:c.G1164A:p.A388A 0.0005 rs201141165 222 71 0.242 247 0 0.000 1.99416267515787947e-21 0.338 --- 250,191,59,0.236 199,199,0,0.000 16.269 7.01 chr7 2594050 2594050 C T exonic BRAT1 nonsynonymous SNV BRAT1:NM_152743:exon2:c.G16A:p.A6T Score=352;Name=lod=36 0.03 0.044563 N 0.69 T 0.27884 NA 0.988271 N 0.029125 N -2.25 216 56 0.206 207 0 0.000 1.2218195676997706e-15 0.411 --- 219,175,44,0.201 174,173,0,0.000 11.870 11.736 chr7 2956958 2956958 G A exonic CARD11 nonsynonymous SNV CARD11:NM_032415:exon20:c.C2669T:p.S890L Score=401;Name=lod=57 0 0.998893 C 1.0 D 0.84 P 1.0 D 0.754145 NA 4.42 92 26 0.220 102 0 0.000 3.40398355771104524e-08 0.308 --- 90,68,22,0.244 78,78,0,0.000 6.265 7.683 chr7 5104214 5104214 A G exonic RBAK nonsynonymous SNV RBAK:NM_021163:exon5:c.A1127G:p.N376S,RBAK:NM_001204456:exon6:c.A1127G:p.N376S 0.33 0.067916 N 0.44 T 0.0 B 0.350676 N 0.02061 N -3.14 126 35 0.217 139 0 0.000 5.84216013175154994e-11 0.343 --- 144,113,31,0.215 133,132,0,0.000 9.492 60 chr7 5540728 5540728 G A exonic FBXL18 nonsynonymous SNV FBXL18:NM_024963:exon3:c.C1172T:p.S391L Score=415;Name=lod=65 0.02 0.987923 C 0.92 T 0.94 D 0.999995 D 0.99647 D 3.57 280 66 0.191 317 0 0.000 9.82086973127792074e-21 0.455 --- 295,239,56,0.190 263,263,0,0.000 16.659 11.575 chr7 5632783 5632783 G A exonic FSCN1 synonymous SNV FSCN1:NM_003088:exon1:c.G216A:p.A72A Score=849;Name=lod=3760 Score=0.95368;Name=chr15:34786499 149 18 0.108 128 0 0.000 2.74514299191796604e-05 0.444 --- 144,124,19,0.133 105,105,0,0.000 4.513 4.506 chr7 6193553 6193553 G A exonic USP42 nonsynonymous SNV USP42:NM_032172:exon15:c.G2368A:p.A790T 0.18 345 82 0.192 367 0 0.000 1.91092480377936862e-24 0.439 --- 362,292,70,0.193 311,311,0,0.000 20.324 15.0 chr7 6196627 6196627 C T exonic USP42 nonsynonymous SNV USP42:NM_032172:exon16:c.C3884T:p.T1295M Score=304;Name=lod=23 0 140 41 0.227 209 0 0.000 1.394383866335969e-15 0.390 --- 161,125,36,0.224 178,178,0,0.000 12.645 60 chr7 8110552 8110552 C T exonic GLCCI1 nonsynonymous SNV GLCCI1:NM_138426:exon6:c.C968T:p.P323L Score=437;Name=lod=80 0.000154 rs141394514 0.01 0.99908 C 0.51 T 0.815 P 0.999915 D 0.979852 D 4.35 81 13 0.138 99 0 0.000 5.49987420596450245e-05 0.923 --- 80,68,12,0.150 86,86,0,0.000 4.004 9.488 chr7 8178623 8178623 G C exonic ICA1 nonsynonymous SNV ICA1:NM_001136020:exon11:c.C1010G:p.A337G,ICA1:NM_001276478:exon11:c.C1007G:p.A336G,ICA1:NM_004968:exon11:c.C1010G:p.A337G,ICA1:NM_022307:exon11:c.C1010G:p.A337G 0.05 0.999786 C 0.706664 NA 0.03 B 0.776201 N 0.005083 N 4.58 74 14 0.159 86 0 0.000 7.01749141313578311e-05 0.429 --- 75,63,11,0.149 65,64,0,0.000 3.068 10.29 chr7 11457207 11457207 C T exonic THSD7A nonsynonymous SNV THSD7A:NM_015204:exon16:c.G3407A:p.G1136D Score=452;Name=lod=92 0.42 147 22 0.130 176 0 0.000 7.21079715280145609e-08 0.318 --- 149,130,19,0.128 145,145,0,0.000 5.673 11.219 chr7 16650374 16650374 T C exonic ANKMY2 synonymous SNV ANKMY2:NM_020319:exon6:c.A546G:p.V182V Score=660;Name=lod=642 96 20 0.172 129 0 0.000 1.25029936849997102e-07 0.300 --- 96,80,16,0.167 103,103,0,0.000 5.371 15.051 chr7 17370427 17370427 A C exonic AHR nonsynonymous SNV AHR:NM_001621:exon6:c.A622C:p.I208L Score=489;Name=lod=129 1 0.132425 N 0.0 T 0.0 B 0.998995 N 8.0E-6 N -0.425 144 32 0.182 166 0 0.000 1.46300329533575403e-10 0.500 --- 138,112,26,0.188 132,132,0,0.000 8.024 13.717 chr7 20824133 20824133 C T exonic SP8 nonsynonymous SNV SP8:NM_182700:exon2:c.G1303A:p.A435T,SP8:NM_198956:exon3:c.G1249A:p.A417T Score=807;Name=lod=2530 0.01 0.996823 C 0.97 D 0.772019 NA 0.999998 D 0.999924 D 3.76 360 90 0.200 481 0 0.000 2.31404933011774702e-31 0.600 --- 388,304,82,0.212 401,401,0,0.000 27.502 60 chr7 21583015 21583015 G A exonic DNAH11 nonsynonymous SNV DNAH11:NM_001277115:exon1:c.G152A:p.R51Q 1 230 78 0.253 302 0 0.000 3.25131730838844054e-26 0.474 --- 268,200,65,0.245 252,252,0,0.000 20.756 60 chr7 21781752 21781752 T A exonic DNAH11 nonsynonymous SNV DNAH11:NM_001277115:exon49:c.T8122A:p.F2708I Score=501;Name=lod=145 0 129 21 0.140 162 0 0.000 9.59029036785483898e-08 0.429 --- 123,105,18,0.146 129,128,1,0.008 4.821 14.364 chr7 24749973 24749973 G A exonic DFNA5 synonymous SNV DFNA5:NM_001127454:exon5:c.C240T:p.F80F,DFNA5:NM_001127453:exon6:c.C732T:p.F244F,DFNA5:NM_004403:exon6:c.C732T:p.F244F Score=363;Name=lod=40 0 96 28 0.226 120 0 0.000 1.46499875433709081e-09 0.393 --- 101,79,22,0.218 94,94,0,0.000 6.756 12.201 chr7 26236425 26236425 A G splicing HNRNPA2B1 NM_002137:exon5:c.475+2T>C,NM_031243:exon6:c.511+2T>C Score=407;Name=lod=60 64 18 0.220 92 0 0.000 4.35602323113601316e-07 0.500 --- 73,60,13,0.178 78,77,0,0.000 4.327 10.377 chr7 29111496 29111496 G T exonic CPVL nonsynonymous SNV CPVL:NM_019029:exon9:c.C757A:p.L253M,CPVL:NM_031311:exon9:c.C757A:p.L253M Score=527;Name=lod=185 0.05 0.999595 C 0.95 T 0.014 B 0.999129 N 0.89404 D 4.26 95 20 0.174 101 0 0.000 1.51801475045267388e-06 0.450 --- 89,75,14,0.157 86,86,0,0.000 4.145 12.485 chr7 29923827 29923827 G A exonic WIPF3 synonymous SNV WIPF3:NM_001080529:exon5:c.G717A:p.P239P 87 15 0.147 81 0 0.000 0.000148090507354944076 0.400 --- 108,88,17,0.162 85,78,0,0.000 4.316 4.83 chr7 31018856 31018856 C A exonic GHRHR stopgain GHRHR:NM_000823:exon13:c.C1269A:p.C423X Score=352;Name=lod=36 0 0.980726 C 0.79488 NA 0.447798 NA 0.871939 NA 0.116041 N 3.7 75 24 0.242 105 0 0.000 5.69903183794172403e-09 0.375 --- 86,63,23,0.267 88,88,0,0.000 7.785 5.99 chr7 33423287 33423287 G A exonic BBS9 nonsynonymous SNV BBS9:NM_014451:exon16:c.G1679A:p.R560H,BBS9:NM_001033604:exon17:c.G1694A:p.R565H,BBS9:NM_001033605:exon17:c.G1784A:p.R595H,BBS9:NM_198428:exon18:c.G1799A:p.R600H Score=628;Name=lod=477 0 0.999755 C 1.0 D 1.0 D 1.0 D 0.995391 D 5.57 81 29 0.264 93 1 0.011 4.37749811925043772e-08 0.552 1.000 102,76,25,0.248 86,85,1,0.012 6.124 11.514 chr7 34118555 34118555 G A exonic BMPER nonsynonymous SNV BMPER:NM_133468:exon13:c.G1165A:p.V389I Score=645;Name=lod=557 0.13 0.99448 C 0.81 T 0.138 B 0.999998 N 0.708413 D 4.45 174 42 0.194 248 0 0.000 1.07218365386358031e-15 0.738 --- 188,150,37,0.198 213,213,0,0.000 13.130 60 chr7 39990399 39990399 G A exonic CDK13 synonymous SNV CDK13:NM_003718:exon1:c.G159A:p.P53P,CDK13:NM_031267:exon1:c.G159A:p.P53P Score=731;Name=lod=1249 149 34 0.186 160 1 0.006 2.23573483031753936e-09 0.353 0.000 170,133,35,0.208 146,145,1,0.007 8.973 4.3 chr7 42005127 42005127 G A exonic GLI3 nonsynonymous SNV GLI3:NM_000168:exon15:c.C3544T:p.R1182W Score=346;Name=lod=34 ID=COSM269246;OCCURENCE=1(large_intestine) 0.18 0.794898 N 0.939698 NA 0.998 D 0.999999 D 0.844196 D -0.588 112 41 0.268 151 0 0.000 4.19140625768630294e-14 0.537 --- 132,97,35,0.265 140,140,0,0.000 12.152 14.699 chr7 42005684 42005684 T C exonic GLI3 nonsynonymous SNV GLI3:NM_000168:exon15:c.A2987G:p.D996G Score=284;Name=lod=19 0.09 0.996233 C 0.710815 NA 0.0040 B 0.999992 D 0.353498 N 4.63 126 25 0.166 191 0 0.000 3.98537120264078637e-10 0.400 --- 136,116,20,0.147 161,161,0,0.000 7.138 9.589 chr7 42006120 42006120 C T exonic GLI3 nonsynonymous SNV GLI3:NM_000168:exon15:c.G2551A:p.A851T Score=541;Name=lod=210 1 0.105189 N 0.650025 NA 0.0 B 0.953218 N 6.62E-4 N 0.113 168 25 0.130 173 0 0.000 5.4080774089190396e-08 0.320 --- 159,139,20,0.126 148,148,0,0.000 5.897 15.109 chr7 42006158 42006158 A T exonic GLI3 nonsynonymous SNV GLI3:NM_000168:exon15:c.T2513A:p.V838D Score=317;Name=lod=26 0.06 0.997551 C 0.69797 NA 0.043 B 0.990936 N 0.006042 N 4.63 114 41 0.265 132 0 0.000 6.58470910882918824e-13 0.366 --- 130,101,29,0.223 117,117,0,0.000 8.795 60 chr7 44530051 44530051 C T exonic NUDCD3 nonsynonymous SNV NUDCD3:NM_015332:exon1:c.G149A:p.R50H Score=552;Name=lod=234 0 0.998116 C 0.98 D 0.938 D 0.999888 D 0.217091 N 4.25 191 28 0.128 189 0 0.000 1.69134867424797666e-08 0.571 --- 184,159,25,0.136 159,159,0,0.000 6.888 4.461 chr7 44579193 44579193 C T exonic NPC1L1 nonsynonymous SNV NPC1L1:NM_001101648:exon2:c.G803A:p.R268H,NPC1L1:NM_013389:exon2:c.G803A:p.R268H rs200554468 0.16 4.5E-5 N 0.83 T 0.0 B 1.0E-6 N 0.002415 N -8.82 192 50 0.207 218 0 0.000 9.29122539644752608e-16 0.500 --- 212,170,41,0.194 191,191,0,0.000 12.160 13.507 chr7 44621347 44621347 A G exonic TMED4 nonsynonymous SNV TMED4:NM_182547:exon2:c.T236C:p.V79A Score=477;Name=lod=116 0 0.998948 C 1.0 D 0.462 P 1.0 D 0.999992 D 4.92 126 24 0.160 143 0 0.000 5.09356673937143856e-08 0.417 --- 132,110,21,0.160 117,116,0,0.000 6.114 11.566 chr7 44797592 44797592 G A exonic ZMIZ2 nonsynonymous SNV ZMIZ2:NM_174929:exon5:c.G698A:p.R233Q,ZMIZ2:NM_031449:exon6:c.G698A:p.R233Q Score=295;Name=lod=21 0.13 0.999344 C 0.78 T 0.999 D 0.999927 D 0.075874 N 4.3 268 53 0.165 269 0 0.000 1.2660774995501782e-15 0.415 --- 276,228,47,0.171 227,227,0,0.000 13.082 12.817 chr7 45104137 45104137 C A exonic CCM2 nonsynonymous SNV CCM2:NM_001167934:exon3:c.C190A:p.L64M,CCM2:NM_001029835:exon4:c.C427A:p.L143M,CCM2:NM_001167935:exon4:c.C364A:p.L122M,CCM2:NM_031443:exon4:c.C364A:p.L122M Score=630;Name=lod=485 0.01 0.969593 C 0.98 D 0.813 P 1.0 D 0.990924 D 2.08 138 23 0.143 153 0 0.000 1.1958314483560968e-07 0.478 --- 130,111,19,0.146 125,125,0,0.000 5.701 6.127 chr7 45954492 45954492 T C exonic IGFBP3 nonsynonymous SNV IGFBP3:NM_000598:exon4:c.A803G:p.Y268C,IGFBP3:NM_001013398:exon4:c.A821G:p.Y274C Score=589;Name=lod=331 0 0.997195 C 1.0 D 1.0 D 1.0 D 0.996988 D 4.94 111 41 0.270 157 1 0.006 2.35625696476732312e-13 0.512 0.000 120,89,30,0.252 128,127,1,0.008 9.072 60 chr7 45956876 45956876 T A exonic IGFBP3 nonsynonymous SNV IGFBP3:NM_000598:exon2:c.A566T:p.D189V,IGFBP3:NM_001013398:exon2:c.A584T:p.D195V Score=456;Name=lod=95 0.16 0.997195 C 0.71 T 0.983 D 0.963139 NA 0.506034 D 4.94 129 21 0.140 108 0 0.000 8.11116608776737148e-06 0.476 --- 124,107,17,0.137 97,97,0,0.000 4.379 8.517 chr7 55902134 55902134 G A exonic SEPT14 nonsynonymous SNV SEPT14:NM_207366:exon6:c.C704T:p.A235V 0.58 80 20 0.200 87 0 0.000 1.4280054410807177e-06 0.650 --- 83,66,17,0.205 71,71,0,0.000 4.908 6.679 chr7 57187833 57187833 A T exonic ZNF479 nonsynonymous SNV ZNF479:NM_033273:exon5:c.T1289A:p.I430N Score=403;Name=lod=58 Score=0.975712;Name=chr7:62684183 0.01 0.067916 N 1.0 D 0.994 D 0.676116 NA 0.353775 N -1.57 139 23 0.142 142 0 0.000 2.44083308855770554e-07 0.522 --- 157,136,21,0.134 138,137,1,0.007 4.705 10.252 chr7 63809036 63809036 C A exonic ZNF736 synonymous SNV ZNF736:NM_001170905:exon5:c.C795A:p.A265A Score=361;Name=lod=39 Score=0.928983;Name=chr5:105878771 139 18 0.115 221 0 0.000 7.41328750459924193e-08 0.389 --- 141,125,16,0.113 193,193,0,0.000 6.218 12.036 chr7 66532334 66532334 C A exonic TYW1 synonymous SNV TYW1:NM_018264:exon10:c.C1218A:p.R406R Score=657;Name=lod=623 Score=0.971543;Name=chr7:72070392 156 18 0.103 155 0 0.000 7.52291443648290007e-06 0.556 --- 143,129,14,0.098 126,126,0,0.000 3.915 13.612 chr7 70800701 70800701 C T exonic WBSCR17 nonsynonymous SNV WBSCR17:NM_022479:exon2:c.C404T:p.P135L Score=646;Name=lod=561 ID=COSM339897;OCCURENCE=1(lung) 0 0.998623 C 1.0 D 0.999 D 1.0 D 0.993809 D 4.54 105 27 0.205 153 0 0.000 1.93198646446856046e-10 0.222 --- 125,99,26,0.208 135,134,0,0.000 8.877 10.485 chr7 71868334 71868334 G T exonic CALN1 synonymous SNV CALN1:NM_031468:exon2:c.C21A:p.P7P Score=417;Name=lod=66 110 20 0.154 108 0 0.000 4.16381031191971173e-06 0.450 --- 100,83,17,0.170 77,77,0,0.000 4.413 7.849 chr7 73450916 73450916 T A splicing ELN NM_001081753:exon3:c.163+2T>A,NM_000501:exon3:c.163+2T>A,NM_001081754:exon3:c.163+2T>A,NM_001081755:exon3:c.163+2T>A Score=429;Name=lod=74 ID=COSM1452006;OCCURENCE=1(large_intestine) 125 34 0.214 128 0 0.000 4.41749875129667222e-10 0.588 --- 128,102,26,0.203 104,103,1,0.010 5.863 12.74 chr7 75050874 75050874 C G exonic POM121C nonsynonymous SNV POM121C:NM_001099415:exon13:c.G2661C:p.Q887H Score=0.980242;Name=chr7:72329132 0 266 56 0.174 343 0 0.000 1.54517869898219092e-19 0.464 --- 272,228,44,0.162 279,279,0,0.000 14.322 6.61 chr7 75614448 75614448 C T exonic POR nonsynonymous SNV POR:NM_000941:exon12:c.C1321T:p.R441W Score=632;Name=lod=494 0 0.997751 C 1.0 D 0.997 D 0.999999 D 0.999999 D 4.6 189 49 0.206 215 0 0.000 1.84465786271619222e-15 0.510 --- 197,154,43,0.218 178,178,0,0.000 12.923 60 chr7 76019524 76019524 T C exonic SRCRB4D nonsynonymous SNV SRCRB4D:NM_080744:exon11:c.A1580G:p.H527R Score=448;Name=lod=88 0.67 0.998266 C 0.5 T 0.063 B 0.995161 N 0.134818 N 4.7 262 57 0.179 273 0 0.000 4.61195810311824152e-17 0.526 --- 276,227,49,0.178 217,217,0,0.000 13.178 60 chr7 76022861 76022861 G A exonic SRCRB4D synonymous SNV SRCRB4D:NM_080744:exon9:c.C1194T:p.H398H Score=488;Name=lod=128 232 60 0.205 321 0 0.000 1.37994244565202383e-21 0.700 --- 261,204,56,0.215 269,269,0,0.000 18.742 14.955 chr7 76866335 76866335 C T exonic CCDC146 synonymous SNV CCDC146:NM_020879:exon3:c.C228T:p.D76D 63 14 0.182 113 0 0.000 1.49706929926443896e-06 0.357 --- 61,49,12,0.197 87,87,0,0.000 4.923 11.681 chr7 77807345 77807345 C A exonic MAGI2 nonsynonymous SNV MAGI2:NM_012301:exon14:c.G2386T:p.D796Y Score=543;Name=lod=214 0 0.998798 C 0.99 D 0.994 D 0.998966 U 0.999762 D 5.2 61 10 0.141 71 0 0.000 0.00139030355398698182 0.600 --- 59,52,7,0.119 54,54,0,0.000 1.872 7.791 chr7 77807387 77807387 G A exonic MAGI2 nonsynonymous SNV MAGI2:NM_012301:exon14:c.C2344T:p.R782W Score=636;Name=lod=513 0.15 0.999591 C 0.8 T 0.999 D 0.997502 U 0.999994 D 5.2 61 10 0.141 73 0 0.000 0.000601641169851301234 0.300 --- 61,52,9,0.148 58,58,0,0.000 2.539 6.711 chr7 82586098 82586098 C A exonic PCLO stopgain PCLO:NM_014510:exon5:c.G4171T:p.G1391X,PCLO:NM_033026:exon5:c.G4171T:p.G1391X Score=432;Name=lod=76 0.03 117 22 0.158 115 0 0.000 1.03471689595601448e-06 0.409 --- 121,102,19,0.157 102,102,0,0.000 5.090 10.538 chr7 87536562 87536562 A G exonic DBF4 nonsynonymous SNV DBF4:NM_006716:exon12:c.A1109G:p.E370G Score=251;Name=lod=14 Score=0.972199;Name=chr10:65928503 0.08 0.92039 N 0.92 T 0.0020 B 0.920584 N 0.401008 N 2.52 130 33 0.202 172 0 0.000 7.45742288188290231e-12 0.697 --- 138,111,27,0.196 137,137,0,0.000 8.439 8.221 chr7 89789177 89789177 C T exonic STEAP1 synonymous SNV STEAP1:NM_012449:exon2:c.C75T:p.D25D Score=366;Name=lod=41 Score=0.97584;Name=chr7:22531668 103 26 0.202 128 0 0.000 7.34432894478398326e-09 0.385 --- 102,81,21,0.206 101,100,0,0.000 6.513 8.224 chr7 91729052 91729052 C T exonic AKAP9 synonymous SNV AKAP9:NM_005751:exon44:c.C10765T:p.L3589L,AKAP9:NM_147185:exon44:c.C10741T:p.L3581L Score=574;Name=lod=287 126 23 0.154 152 0 0.000 3.74210545434361302e-08 0.478 --- 122,102,19,0.157 118,118,0,0.000 5.742 12.447 chr7 91842633 91842633 G A exonic KRIT1 nonsynonymous SNV KRIT1:NM_001013406:exon15:c.C1757T:p.T586I,KRIT1:NM_004912:exon17:c.C1901T:p.T634I,KRIT1:NM_194454:exon17:c.C1901T:p.T634I,KRIT1:NM_194455:exon17:c.C1901T:p.T634I,KRIT1:NM_194456:exon18:c.C1901T:p.T634I Score=718;Name=lod=1101 0.01 0.999825 C 0.87 T 0.997 D 1.0 D 0.999885 D 5.82 46 8 0.148 86 0 0.000 0.000348479089327493486 0.500 --- 43,37,6,0.140 65,65,0,0.000 2.497 5.009 chr7 92120786 92120786 T G exonic PEX1 nonsynonymous SNV PEX1:NM_000466:exon21:c.A3238C:p.S1080R Score=624;Name=lod=460 0 0.998005 C 0.97 D 0.658 P 1.0 D 0.99622 D 5.31 64 13 0.169 84 0 0.000 3.85330078484409404e-05 0.385 --- 67,56,11,0.164 68,68,0,0.000 3.542 8.096 chr7 94168283 94168283 A G exonic CASD1 nonsynonymous SNV CASD1:NM_022900:exon10:c.A1271G:p.K424R Score=654;Name=lod=609 0.06 0.997896 C 0.94 T 0.932 D 1.0 D 0.95997 D 4.48 50 6 0.107 61 0 0.000 0.0103812788528884137 0.500 --- 44,40,4,0.091 48,47,0,0.000 1.294 3.962 chr7 94540617 94540617 C T exonic PPP1R9A nonsynonymous SNV PPP1R9A:NM_001166161:exon1:c.C1192T:p.H398Y,PPP1R9A:NM_001166162:exon1:c.C1192T:p.H398Y,PPP1R9A:NM_001166163:exon1:c.C1192T:p.H398Y,PPP1R9A:NM_001166160:exon2:c.C1192T:p.H398Y,PPP1R9A:NM_017650:exon2:c.C1192T:p.H398Y Score=595;Name=lod=349 0.17 0.985176 C 0.73 T 0.996 D 0.997601 N 0.493468 N 4.22 145 55 0.275 169 0 0.000 4.76412133457977081e-17 0.600 --- 175,130,45,0.257 145,145,0,0.000 13.021 60 chr7 97481685 97481685 G A exonic ASNS synonymous SNV ASNS:NM_001178076:exon11:c.C1323T:p.R441R,ASNS:NM_001178077:exon11:c.C1323T:p.R441R,ASNS:NM_001178075:exon13:c.C1509T:p.R503R,ASNS:NM_001673:exon13:c.C1572T:p.R524R,ASNS:NM_133436:exon13:c.C1572T:p.R524R,ASNS:NM_183356:exon14:c.C1572T:p.R524R Score=538;Name=lod=204 Score=0.907146;Name=chr8:47608506 172 29 0.144 206 0 0.000 4.32762301408895094e-10 0.414 --- 173,147,26,0.150 160,159,0,0.000 7.745 10.106 chr7 97481702 97481702 G A exonic ASNS nonsynonymous SNV ASNS:NM_001178076:exon11:c.C1306T:p.R436C,ASNS:NM_001178077:exon11:c.C1306T:p.R436C,ASNS:NM_001178075:exon13:c.C1492T:p.R498C,ASNS:NM_001673:exon13:c.C1555T:p.R519C,ASNS:NM_133436:exon13:c.C1555T:p.R519C,ASNS:NM_183356:exon14:c.C1555T:p.R519C Score=538;Name=lod=204 Score=0.907146;Name=chr8:47608506 0 0.999577 C 1.0 D 0.999 D 1.0 D 0.999999 D 4.82 166 28 0.144 181 0 0.000 3.93964641177842804e-09 0.357 --- 166,140,25,0.152 148,148,0,0.000 7.334 13.042 chr7 97616394 97616394 G A exonic OCM2 nonsynonymous SNV OCM2:NM_006188:exon3:c.C269T:p.A90V Score=0.9489;Name=chr7:5889826 0.0005 ID=COSM1453080;OCCURENCE=1(breast),1(large_intestine) rs200557951 0.998588 C 1.0 D 0.976 D 1.0 D 0.999449 D 3.73 69 20 0.225 79 0 0.000 1.04151873144729344e-06 0.450 --- 79,61,18,0.228 69,69,0,0.000 5.324 13.734 chr7 97823641 97823641 C T exonic LMTK2 synonymous SNV LMTK2:NM_014916:exon11:c.C3864T:p.D1288D Score=487;Name=lod=127 164 56 0.255 250 0 0.000 4.86341798704658768e-21 0.500 --- 192,143,49,0.255 212,212,0,0.000 17.430 60 chr7 98249082 98249082 C A exonic NPTX2 nonsynonymous SNV NPTX2:NM_002523:exon2:c.C554A:p.S185Y Score=524;Name=lod=179 0.1 0.997129 C 0.94 T 0.267 P 0.999999 D 0.99939 D 4.38 115 38 0.248 177 0 0.000 1.24479288978096124e-14 0.447 --- 124,91,33,0.266 137,137,0,0.000 11.785 13.443 chr7 98460829 98460829 G A exonic TMEM130 nonsynonymous SNV TMEM130:NM_001134450:exon2:c.C280T:p.R94C,TMEM130:NM_152913:exon2:c.C280T:p.R94C Score=272;Name=lod=17 0.000077 0.0005 ID=COSM1229516;OCCURENCE=1(large_intestine) rs201918406 0.02 0.985379 C 1.0 D 0.961 D 0.920081 N 0.010525 N 2.0 150 34 0.185 185 0 0.000 9.84939814824123692e-12 0.647 --- 166,134,32,0.193 160,160,0,0.000 9.981 60 chr7 98563456 98563456 C T exonic TRRAP nonsynonymous SNV TRRAP:NM_003496:exon47:c.C7039T:p.R2347W,TRRAP:NM_001244580:exon48:c.C7093T:p.R2365W Score=507;Name=lod=153 0 0.999286 C 1.0 D 0.993 D 1.0 D 0.99829 D 5.67 165 41 0.199 222 0 0.000 9.6448941311211715e-15 0.390 --- 179,144,35,0.196 190,189,1,0.005 10.412 15.051 chr7 98592281 98592281 C T exonic TRRAP synonymous SNV TRRAP:NM_003496:exon65:c.C9990T:p.S3330S,TRRAP:NM_001244580:exon66:c.C10077T:p.S3359S 173 58 0.251 219 0 0.000 3.01818827918536862e-19 0.638 --- 201,152,49,0.244 184,184,0,0.000 15.042 60 chr7 99474401 99474401 G T exonic OR2AE1 nonsynonymous SNV OR2AE1:NM_001005276:exon1:c.C256A:p.L86I Score=235;Name=lod=12 0.03 0.237121 N 0.93 T 0.359 P 0.996758 N 0.500459 NA -0.91 110 30 0.214 133 0 0.000 4.2907458600646231e-10 0.400 --- 120,93,27,0.225 118,118,0,0.000 8.536 60 chr7 99689047 99689047 G T exonic COPS6 nonsynonymous SNV COPS6:NM_006833:exon9:c.G747T:p.E249D Score=634;Name=lod=504 0.4 0.901152 N 0.28 T 0.077 B 0.999999 D 0.98863 D 1.01 89 28 0.239 114 0 0.000 1.25300703497618186e-09 0.429 --- 110,84,26,0.236 102,102,0,0.000 8.066 60 chr7 99709441 99709441 G A exonic TAF6 synonymous SNV TAF6:NM_001190415:exon9:c.C921T:p.N307N,TAF6:NM_005641:exon9:c.C810T:p.N270N,TAF6:NM_139315:exon9:c.C810T:p.N270N Score=571;Name=lod=279 0.001230 0.0014 rs144820438 105 50 0.323 119 0 0.000 9.27958864925967101e-15 0.600 --- 138,95,43,0.312 110,110,0,0.000 12.237 60 chr7 99773448 99773448 C T exonic GPC2 nonsynonymous SNV GPC2:NM_152742:exon3:c.G395A:p.R132H Score=643;Name=lod=548 0.000231 rs139852269 0.36 0.248296 N 0.82 T 0.0050 B 0.999741 N 0.604219 D 0.414 94 15 0.138 119 0 0.000 9.08887957903909833e-06 0.400 --- 88,73,15,0.170 97,96,0,0.000 5.100 10.275 chr7 100187628 100187628 C T exonic FBXO24 nonsynonymous SNV FBXO24:NM_001163499:exon2:c.C32T:p.S11L,FBXO24:NM_012172:exon2:c.C182T:p.S61L,FBXO24:NM_033506:exon2:c.C68T:p.S23L Score=500;Name=lod=143 0.23 0.958124 C 0.98 D 0.0 B 0.982424 N 3.33E-4 N 2.86 136 37 0.214 128 0 0.000 2.282438310376294e-10 0.622 --- 149,116,33,0.221 106,106,0,0.000 8.384 14.155 chr7 100238316 100238316 T C exonic TFR2 nonsynonymous SNV TFR2:NM_003227:exon3:c.A466G:p.T156A 0.12 0.243764 N 0.7 T 0.0040 B 0.921884 N 0.050676 N 0.402 151 47 0.237 162 0 0.000 4.01530666867291829e-14 0.830 --- 169,125,44,0.260 134,133,0,0.000 12.205 5.623 chr7 100421296 100421296 C T exonic EPHB4 synonymous SNV EPHB4:NM_004444:exon3:c.G381A:p.T127T 239 53 0.182 263 0 0.000 1.62744634520834387e-16 0.509 --- 251,201,49,0.196 225,225,0,0.000 14.649 15.955 chr7 100457548 100457548 G A exonic SLC12A9 nonsynonymous SNV SLC12A9:NM_001267814:exon6:c.G752A:p.S251N,SLC12A9:NM_001267812:exon8:c.G1019A:p.S340N,SLC12A9:NM_020246:exon8:c.G1019A:p.S340N Score=452;Name=lod=92 1 0.999381 C 0.0 T 0.0060 B 1.0 D 0.162538 N 4.35 167 34 0.169 173 0 0.000 1.94779982778939844e-10 0.647 --- 164,135,29,0.177 140,140,0,0.000 8.213 7.862 chr7 100491339 100491339 G A exonic ACHE nonsynonymous SNV ACHE:NM_000665:exon2:c.C515T:p.A172V,ACHE:NM_015831:exon2:c.C515T:p.A172V 0.62 0.988252 C 0.0 T 0.0 B 0.981916 N 0.050877 N 2.86 270 32 0.106 262 0 0.000 1.25376188536898911e-09 0.562 --- 267,238,29,0.109 229,229,0,0.000 7.992 12.124 chr7 100647142 100647142 G A exonic MUC12 nonsynonymous SNV MUC12:NM_001164462:exon2:c.G13298A:p.R4433H Score=0.953071;Name=chr7:100634345 358 46 0.114 361 0 0.000 6.05398932506339549e-14 0.348 --- 289,257,31,0.108 253,252,0,0.000 8.630 4.742 chr7 100684139 100684139 A G exonic MUC17 nonsynonymous SNV MUC17:NM_001040105:exon3:c.A9442G:p.T3148A 0.002218 N 0.80053 NA 0.651 P 0.598621 NA 0.00762 N -1.97 266 58 0.179 296 0 0.000 3.8263058412302841e-18 0.483 --- 285,237,46,0.163 262,257,2,0.008 11.197 60 chr7 100731091 100731091 G A exonic TRIM56 synonymous SNV TRIM56:NM_030961:exon3:c.G498A:p.A166A 0.001534 0.0009 rs200165536 257 53 0.171 231 0 0.000 2.03639849571755934e-14 0.547 --- 278,231,47,0.169 209,209,0,0.000 12.059 12.334 chr7 100850073 100850073 C T exonic PLOD3 nonsynonymous SNV PLOD3:NM_001084:exon18:c.G2048A:p.G683D Score=566;Name=lod=265 0.02 0.807704 N 0.91 T 0.073 B 0.926256 N 0.998998 D 1.45 101 34 0.252 135 0 0.000 1.07734735850330315e-11 0.647 --- 109,81,27,0.250 108,107,0,0.000 8.634 7.023 chr7 102098214 102098214 C T exonic ALKBH4 nonsynonymous SNV ALKBH4:NM_017621:exon3:c.G536A:p.R179Q Score=555;Name=lod=241 0.889854 N 0.97 D 0.983 D 0.999818 D 0.999608 D 1.33 228 63 0.216 267 0 0.000 4.96630039459009906e-20 0.524 --- 259,203,55,0.213 229,229,0,0.000 16.475 60 chr7 102574583 102574583 G A exonic LRRC17 nonsynonymous SNV LRRC17:NM_001031692:exon2:c.G223A:p.V75M,LRRC17:NM_005824:exon2:c.G223A:p.V75M Score=309;Name=lod=24 0 0.972141 C 1.0 D 0.068 B 0.990698 N 0.995814 D 2.66 166 26 0.135 177 0 0.000 1.93786377732300124e-08 0.385 --- 166,142,24,0.145 149,149,0,0.000 7.020 14.699 chr7 102585031 102585031 G A exonic LRRC17 nonsynonymous SNV LRRC17:NM_001031692:exon4:c.G1303A:p.V435I Score=295;Name=lod=21 0.001076 0 rs117261467 0 0.999719 C 1.0 D 0.813 P 0.999966 D 0.842572 D 5.48 99 16 0.139 72 0 0.000 0.000309218868943225761 0.375 --- 101,87,14,0.139 61,61,0,0.000 2.958 5.889 chr7 110763267 110763267 A G exonic LRRN3 nonsynonymous SNV LRRN3:NM_018334:exon2:c.A439G:p.I147V,LRRN3:NM_001099658:exon3:c.A439G:p.I147V,LRRN3:NM_001099660:exon4:c.A439G:p.I147V Score=645;Name=lod=557 0.22 0.781239 N 0.86 T 0.0050 B 0.989409 N 0.003068 N 0.475 133 17 0.113 134 0 0.000 1.3917201718785572e-05 0.529 --- 123,106,17,0.138 116,115,0,0.000 5.011 10.526 chr7 112112891 112112891 C T exonic IFRD1 nonsynonymous SNV IFRD1:NM_001197079:exon11:c.C1091T:p.T364M,IFRD1:NM_001197080:exon11:c.C1091T:p.T364M,IFRD1:NM_001550:exon11:c.C1241T:p.T414M,IFRD1:NM_001007245:exon12:c.C1241T:p.T414M Score=534;Name=lod=197 rs200425886 0.03 0.999092 C 0.98 D 0.445 P 1.0 D 0.592737 D 5.46 41 17 0.293 61 0 0.000 1.21186784295938723e-06 0.588 --- 43,31,12,0.279 51,51,0,0.000 4.493 60 chr7 121766465 121766465 G A exonic AASS nonsynonymous SNV AASS:NM_005763:exon4:c.C436T:p.R146W Score=317;Name=lod=26 0.000077 rs141405677 0 0.99936 C 1.0 D 1.0 D 0.999988 D 0.999997 D 4.85 88 15 0.146 128 0 0.000 2.98504607316211276e-06 0.467 --- 82,70,12,0.146 99,98,0,0.000 4.302 12.953 chr7 122342061 122342061 A G exonic RNF148 synonymous SNV RNF148:NM_198085:exon1:c.T744C:p.D248D Score=426;Name=lod=72 102 28 0.215 126 0 0.000 1.58714517386778484e-09 0.571 --- 109,88,21,0.193 109,109,0,0.000 6.483 60 chr7 123302396 123302396 C T exonic LMOD2 synonymous SNV LMOD2:NM_207163:exon2:c.C756T:p.A252A Score=410;Name=lod=62 ID=COSM202878;OCCURENCE=1(large_intestine) 184 33 0.152 235 0 0.000 7.75748677099922302e-12 0.485 --- 186,158,27,0.146 206,206,0,0.000 9.243 10.988 chr7 124404259 124404259 A G exonic GPR37 nonsynonymous SNV GPR37:NM_005302:exon1:c.T772C:p.S258P Score=412;Name=lod=63 0 0.999191 C 0.9 T 0.047 B 0.99759 N 0.974971 D 5.18 192 39 0.169 220 0 0.000 9.46192690567913571e-13 0.667 --- 201,166,35,0.174 193,193,0,0.000 10.838 11.571 chr7 126746654 126746654 T A exonic GRM8 nonsynonymous SNV GRM8:NM_000845:exon2:c.A623T:p.D208V,GRM8:NM_001127323:exon3:c.A623T:p.D208V Score=512;Name=lod=160 0 0.950458 C 1.0 D 0.996 D 0.999999 D 0.999732 D 3.67 96 31 0.244 97 0 0.000 4.08493310044942152e-09 0.452 --- 104,78,26,0.250 80,80,0,0.000 6.974 11.779 chr7 127326781 127326781 G A exonic SND1 nonsynonymous SNV SND1:NM_014390:exon2:c.G193A:p.A65T 0.0005 rs201240288 0.55 0.999776 C 0.73 T 0.0010 B 0.994611 N 0.400202 N 5.64 145 40 0.216 208 0 0.000 6.70127660317984207e-15 0.500 --- 136,109,27,0.199 163,163,0,0.000 9.914 13.538 chr7 128407587 128407587 C T exonic CALU nonsynonymous SNV CALU:NM_001130674:exon6:c.C721T:p.R241W,CALU:NM_001219:exon6:c.C721T:p.R241W,CALU:NM_001199671:exon7:c.C745T:p.R249W,CALU:NM_001199672:exon7:c.C745T:p.R249W Score=724;Name=lod=1163 0.000154 0 0.998676 C 1.0 D 0.994 D 1.0 D 0.999994 D 5.09 87 10 0.103 96 0 0.000 0.00153023668712124058 0.500 --- 85,75,10,0.118 79,79,0,0.000 2.807 9.846 chr7 128846039 128846039 C T exonic SMO synonymous SNV SMO:NM_005631:exon5:c.C969T:p.Y323Y Score=590;Name=lod=332 95 23 0.195 105 0 0.000 1.50311545423693361e-07 0.783 --- 104,83,21,0.202 86,86,0,0.000 5.798 9.792 chr7 129110515 129110515 T C exonic STRIP2 nonsynonymous SNV STRIP2:NM_001134336:exon18:c.T1903C:p.C635R,STRIP2:NM_020704:exon18:c.T1903C:p.C635R Score=480;Name=lod=119 0 0.997944 C 1.0 D 1.0 D 1.0 D 0.999909 D 4.95 73 10 0.120 71 0 0.000 0.00188652254265648248 0.600 --- 64,57,7,0.109 56,56,0,0.000 1.843 6.891 chr7 129152120 129152120 C T exonic SMKR1 synonymous SNV SMKR1:NM_001195243:exon2:c.C36T:p.G12G 141 52 0.269 184 0 0.000 1.63415513948815728e-17 0.712 --- 162,117,44,0.273 148,148,0,0.000 13.604 60 chr7 130135309 130135309 T C exonic MEST nonsynonymous SNV MEST:NM_001253900:exon2:c.T127C:p.W43R,MEST:NM_001253901:exon2:c.T100C:p.W34R,MEST:NM_001253902:exon2:c.T100C:p.W34R,MEST:NM_002402:exon2:c.T127C:p.W43R,MEST:NM_177524:exon2:c.T100C:p.W34R,MEST:NM_177525:exon2:c.T100C:p.W34R Score=378;Name=lod=46 0 0.997352 C 1.0 D 0.996 D 1.0 D 0.998506 D 5.01 125 40 0.242 153 1 0.006 6.29409565448914506e-12 0.475 0.000 144,114,29,0.203 138,136,1,0.007 7.808 13.872 chr7 131194239 131194239 G A exonic PODXL nonsynonymous SNV PODXL:NM_005397:exon3:c.C812T:p.T271M,PODXL:NM_001018111:exon4:c.C908T:p.T303M 0.01 0.054572 N 1.0 D 0.0030 B 0.0 N 0.097423 N -6.9 103 29 0.220 164 0 0.000 1.00253443638104428e-11 0.586 --- 103,81,22,0.214 129,129,0,0.000 8.362 9.267 chr7 134617849 134617849 G A exonic CALD1 nonsynonymous SNV CALD1:NM_033139:exon3:c.G311A:p.R104H,CALD1:NM_033140:exon3:c.G311A:p.R104H,CALD1:NM_004342:exon5:c.G329A:p.R110H,CALD1:NM_033138:exon5:c.G329A:p.R110H,CALD1:NM_033157:exon5:c.G329A:p.R110H Score=443;Name=lod=84 0 0.999417 C 0.99 D 0.58514 NA 0.999968 D 0.127649 N 4.92 107 21 0.164 138 0 0.000 8.45276351072168903e-08 0.524 --- 109,93,16,0.147 115,115,0,0.000 5.269 12.697 chr7 134931229 134931229 G A exonic STRA8 synonymous SNV STRA8:NM_182489:exon6:c.G507A:p.P169P 222 44 0.165 265 0 0.000 1.63518675719596411e-14 0.682 --- 237,197,39,0.165 228,228,0,0.000 12.092 13.574 chr7 136700753 136700753 C T exonic CHRM2 nonsynonymous SNV CHRM2:NM_001006629:exon2:c.C1141T:p.R381W,CHRM2:NM_001006627:exon3:c.C1141T:p.R381W,CHRM2:NM_001006628:exon3:c.C1141T:p.R381W,CHRM2:NM_001006632:exon3:c.C1141T:p.R381W,CHRM2:NM_000739:exon4:c.C1141T:p.R381W,CHRM2:NM_001006630:exon4:c.C1141T:p.R381W,CHRM2:NM_001006631:exon4:c.C1141T:p.R381W,CHRM2:NM_001006626:exon5:c.C1141T:p.R381W Score=587;Name=lod=325 0 0.827428 N 1.0 D 1.0 D 1.0 D 0.996232 D -0.982 191 56 0.227 224 0 0.000 8.11773567639022264e-18 0.411 --- 216,167,49,0.227 202,202,0,0.000 15.332 60 chr7 137567313 137567313 C T exonic CREB3L2 synonymous SNV CREB3L2:NM_194071:exon11:c.G1332A:p.P444P 0.0005 rs145559600 125 18 0.126 151 0 0.000 1.29288147431696929e-06 0.333 --- 117,102,15,0.128 122,122,0,0.000 4.865 8.287 chr7 138487711 138487711 C T exonic TMEM213 nonsynonymous SNV TMEM213:NM_001085429:exon3:c.C221T:p.A74V Score=395;Name=lod=54 0 114 43 0.274 182 0 0.000 1.18498574328983886e-16 0.558 --- 126,90,35,0.280 140,140,0,0.000 12.690 60 chr7 138554385 138554385 A G exonic KIAA1549 synonymous SNV KIAA1549:NM_001164665:exon14:c.T4674C:p.T1558T,KIAA1549:NM_020910:exon14:c.T4674C:p.T1558T 143 16 0.101 181 0 0.000 3.43071231084163295e-06 0.688 --- 137,124,12,0.088 150,150,0,0.000 3.989 4.743 chr7 138768592 138768592 C T exonic ZC3HAV1 nonsynonymous SNV ZC3HAV1:NM_020119:exon3:c.G631A:p.V211M,ZC3HAV1:NM_024625:exon3:c.G631A:p.V211M 0.08 0.92806 N 0.92 T 0.98 D 0.946647 N 0.026607 N 1.68 218 44 0.168 222 0 0.000 5.11067332317759904e-13 0.545 --- 219,180,38,0.174 177,177,0,0.000 10.396 60 chr7 138833040 138833040 C A exonic TTC26 nonsynonymous SNV TTC26:NM_001144923:exon6:c.C541A:p.L181I,TTC26:NM_001144920:exon7:c.C634A:p.L212I,TTC26:NM_024926:exon7:c.C634A:p.L212I Score=699;Name=lod=926 0.01 0.998019 C 0.99 D 0.593 P 0.999998 D 0.998788 D 4.72 116 40 0.256 132 0 0.000 3.0327308389492705e-12 0.600 --- 119,90,29,0.244 109,107,2,0.018 6.550 60 chr7 140035147 140035147 G A exonic SLC37A3 synonymous SNV SLC37A3:NM_032295:exon12:c.C1248T:p.C416C 174 24 0.121 192 0 0.000 6.03026642715269044e-08 0.417 --- 167,146,21,0.126 158,158,0,0.000 6.246 8.725 chr7 140111776 140111776 C T exonic RAB19 nonsynonymous SNV RAB19:NM_001008749:exon3:c.C304T:p.R102W Score=501;Name=lod=145 0 0.925532 N 1.0 D 0.0020 B 0.999854 D 0.999404 D 1.64 137 23 0.144 132 0 0.000 5.81270091735935603e-07 0.435 --- 125,105,20,0.160 102,102,0,0.000 5.371 9.345 chr7 141408671 141408671 G A exonic WEE2 nonsynonymous SNV WEE2:NM_001105558:exon1:c.G113A:p.S38N 0.33 0.791085 N 0.705543 NA 0.051 B 0.695137 U 2.7E-4 N -0.149 126 43 0.254 133 0 0.000 1.36794419447864634e-12 0.512 --- 141,105,36,0.255 108,108,0,0.000 9.653 60 chr7 142829213 142829213 C T exonic PIP nonsynonymous SNV PIP:NM_002652:exon1:c.C4T:p.R2C 0.000077 rs145633135 0.14 0.205102 N 0.96 D 0.323 P 0.062195 N 0.0 N -0.97 92 27 0.227 116 0 0.000 2.95859665390459959e-09 0.593 --- 99,77,22,0.222 84,84,0,0.000 6.195 11.99 chr7 143175452 143175452 A G exonic TAS2R41 nonsynonymous SNV TAS2R41:NM_176883:exon1:c.A487G:p.K163E 0.19 0.093319 N 0.699127 NA 0.016 B 0.081213 U 0.002898 N -3.03 150 37 0.198 208 0 0.000 1.20626353672585009e-13 0.514 --- 157,125,32,0.204 180,179,0,0.000 11.386 15.654 chr7 143175863 143175863 T C exonic TAS2R41 synonymous SNV TAS2R41:NM_176883:exon1:c.T898C:p.L300L 144 35 0.196 160 0 0.000 5.60460762629141781e-11 0.343 --- 151,121,30,0.199 136,134,0,0.000 8.675 60 chr7 143701408 143701408 C A exonic OR6B1 nonsynonymous SNV OR6B1:NM_001005281:exon1:c.C319A:p.L107I Score=289;Name=lod=20 0 0.998946 C 0.773544 NA 0.38 P 0.962215 U 0.064025 N 4.78 117 35 0.230 145 0 0.000 8.71525548965195689e-12 0.571 --- 133,102,31,0.233 127,127,0,0.000 9.788 60 chr7 144097287 144097287 G A exonic NOBOX synonymous SNV NOBOX:NM_001080413:exon5:c.C963T:p.A321A 0.000987 0.0018 rs188779367 142 30 0.174 217 0 0.000 4.99592471985179164e-12 0.533 --- 137,116,21,0.153 167,167,0,0.000 7.664 6.218 chr7 148950702 148950702 G A exonic ZNF212 synonymous SNV ZNF212:NM_012256:exon5:c.G684A:p.A228A 144 60 0.294 204 0 0.000 1.05353845844034242e-20 0.600 --- 164,111,52,0.319 164,164,0,0.000 17.839 60 chr7 149171738 149171738 G A exonic ZNF746 stopgain ZNF746:NM_001163474:exon7:c.C1675T:p.R559X,ZNF746:NM_152557:exon7:c.C1672T:p.R558X Score=563;Name=lod=258 1 0.999549 C 0.903837 NA 0.735438 NA 0.99973 D 1.0 D 4.59 262 45 0.147 287 0 0.000 2.43178878673790055e-14 0.533 --- 260,217,42,0.162 246,246,0,0.000 12.907 14.015 chr7 149171852 149171852 T C exonic ZNF746 nonsynonymous SNV ZNF746:NM_001163474:exon7:c.A1561G:p.T521A,ZNF746:NM_152557:exon7:c.A1558G:p.T520A Score=419;Name=lod=67 0.02 0.996493 C 0.88 T 0.503 P 0.968074 N 0.048751 N 4.19 259 44 0.145 198 0 0.000 9.13010966522192461e-11 0.409 --- 262,227,34,0.130 176,175,0,0.000 7.898 12.111 chr7 149191522 149191522 G A exonic ZNF746 nonsynonymous SNV ZNF746:NM_001163474:exon2:c.C97T:p.L33F,ZNF746:NM_152557:exon2:c.C97T:p.L33F Score=477;Name=lod=116 Score=0.904079;Name=chr7:149311837 0 0.998238 C 0.95 T 0.691 P 0.998805 N 0.054873 N 2.86 268 53 0.165 318 0 0.000 2.1888138529051808e-17 0.189 --- 285,234,51,0.179 274,274,0,0.000 15.923 15.477 chr7 149428826 149428826 C T exonic KRBA1 unknown UNKNOWN 99 14 0.124 126 0 0.000 1.77634026779766968e-05 0.500 --- 91,79,12,0.132 95,95,0,0.000 3.897 7.477 chr7 149430863 149430863 C T exonic KRBA1 unknown UNKNOWN 218 40 0.155 270 0 0.000 6.79180186325560977e-14 0.600 --- 225,189,35,0.156 237,237,0,0.000 11.614 14.386 chr7 149500864 149500864 G A exonic SSPO nonsynonymous SNV SSPO:NM_198455:exon55:c.G8182A:p.D2728N Score=540;Name=lod=208 0.000239 rs200684305 0.12 200 43 0.177 266 0 0.000 1.8531392979593314e-15 0.372 --- 200,165,35,0.175 225,224,0,0.000 12.169 9.923 chr7 149502626 149502626 A G exonic SSPO synonymous SNV SSPO:NM_198455:exon57:c.A8439G:p.P2813P 147 47 0.242 180 0 0.000 1.90377177095709683e-15 0.447 --- 169,130,37,0.222 165,162,0,0.000 11.749 60 chr7 149558396 149558396 T G exonic ZNF862 nonsynonymous SNV ZNF862:NM_001099220:exon7:c.T2147G:p.I716S Score=433;Name=lod=77 0.26 277 43 0.134 277 0 0.000 5.95583464864080275e-13 0.442 --- 275,237,38,0.138 238,237,0,0.000 10.762 12.926 chr7 150417293 150417293 C A exonic GIMAP1,GIMAP1-GIMAP5 synonymous SNV GIMAP1-GIMAP5:NM_001199577:exon3:c.C201A:p.T67T,GIMAP1:NM_130759:exon3:c.C201A:p.T67T 327 82 0.200 390 0 0.000 1.74039486999873123e-26 0.610 --- 347,272,75,0.216 340,340,0,0.000 24.107 60 chr7 150707733 150707733 C A exonic NOS3 nonsynonymous SNV NOS3:NM_000603:exon22:c.C2734A:p.L912M Score=500;Name=lod=143 0.01 0.998857 C 0.97 D 0.098 B 0.997753 N 0.085985 N 4.71 147 24 0.140 156 0 0.000 8.34764239442797184e-08 0.750 --- 143,123,20,0.140 129,129,0,0.000 5.834 8.004 chr7 150713315 150713315 C G exonic ATG9B unknown UNKNOWN Score=429;Name=lod=74 0.51 260 39 0.130 281 1 0.004 3.59238011188408443e-11 0.333 1.000 250,213,33,0.134 244,233,2,0.009 7.777 6.48 chr7 150746272 150746272 G A exonic ASIC3 synonymous SNV ASIC3:NM_004769:exon1:c.G300A:p.S100S,ASIC3:NM_020321:exon1:c.G300A:p.S100S,ASIC3:NM_020322:exon1:c.G300A:p.S100S 316 61 0.162 341 0 0.000 7.65313784716853201e-19 0.443 --- 339,281,57,0.169 281,281,0,0.000 15.719 60 chr7 150751136 150751136 G A exonic CDK5 nonsynonymous SNV CDK5:NM_001164410:exon11:c.C743T:p.A248V,CDK5:NM_004935:exon12:c.C839T:p.A280V Score=563;Name=lod=259 0 123 27 0.180 132 0 0.000 2.20811154959763417e-08 0.407 --- 129,104,25,0.194 115,115,0,0.000 7.431 8.166 chr7 150765135 150765135 G A exonic SLC4A2 nonsynonymous SNV SLC4A2:NM_001199693:exon7:c.G1114A:p.A372T,SLC4A2:NM_001199694:exon7:c.G1099A:p.A367T,SLC4A2:NM_001199692:exon8:c.G1141A:p.A381T,SLC4A2:NM_003040:exon8:c.G1141A:p.A381T Score=605;Name=lod=382 0.33 0.99909 C 0.64 T 0.0020 B 0.999991 D 0.959016 D 4.04 102 21 0.171 111 0 0.000 6.14657305680532425e-07 0.333 --- 108,92,16,0.148 93,93,0,0.000 4.526 5.675 chr7 150778771 150778771 C T exonic TMUB1 synonymous SNV TMUB1:NM_001136044:exon3:c.G606A:p.L202L,TMUB1:NM_031434:exon3:c.G606A:p.L202L Score=666;Name=lod=681 281 35 0.111 289 0 0.000 5.36195159649254378e-11 0.543 --- 280,245,34,0.122 254,253,0,0.000 9.961 6.237 chr7 150934732 150934732 A G exonic CHPF2 synonymous SNV CHPF2:NM_019015:exon4:c.A1284G:p.R428R Score=630;Name=lod=486 218 49 0.184 235 0 0.000 4.02345651167333904e-15 0.510 --- 236,196,40,0.169 199,199,0,0.000 11.055 60 chr7 151082267 151082267 C T exonic WDR86 nonsynonymous SNV WDR86:NM_198285:exon4:c.G769A:p.V257I Score=472;Name=lod=110 0.04 200 36 0.153 249 0 0.000 1.24242202281964596e-12 0.556 --- 193,161,32,0.166 188,188,0,0.000 9.906 14.955 chr7 151372649 151372649 T C exonic PRKAG2 nonsynonymous SNV PRKAG2:NM_001040633:exon4:c.A409G:p.K137E,PRKAG2:NM_016203:exon4:c.A541G:p.K181E Score=417;Name=lod=66 0.01 0.962332 C 1.0 D 0.0090 B 0.981233 N 0.084303 N 3.88 146 30 0.170 175 0 0.000 4.82524716752639303e-10 0.533 --- 152,130,22,0.145 148,147,0,0.000 6.652 60 chr7 151478249 151478249 C T exonic PRKAG2 nonsynonymous SNV PRKAG2:NM_001040633:exon3:c.G323A:p.R108H,PRKAG2:NM_016203:exon3:c.G455A:p.R152H Score=542;Name=lod=212 0 0.99809 C 1.0 D 0.998 D 0.999951 D 0.997054 D 4.75 175 34 0.163 203 0 0.000 3.02006403898087079e-11 0.735 --- 188,155,33,0.176 179,178,0,0.000 10.143 7.869 chr7 151853090 151853090 G A exonic MLL3 synonymous SNV MLL3:NM_170606:exon46:c.C11865T:p.D3955D 0.000077 0.0014 rs147168446 144 22 0.133 167 0 0.000 1.05754836505435619e-07 0.500 --- 135,116,19,0.141 138,138,0,0.000 6.109 8.461 chr7 151873652 151873652 G A exonic MLL3 synonymous SNV MLL3:NM_170606:exon38:c.C8886T:p.G2962G Score=284;Name=lod=19 132 56 0.298 161 0 0.000 1.17068481243368878e-17 0.411 --- 169,119,50,0.296 143,143,0,0.000 14.951 60 chr7 151874710 151874710 G A exonic MLL3 stopgain MLL3:NM_170606:exon38:c.C7828T:p.R2610X 1 0.899082 N 0.899043 NA 0.683595 NA 0.799297 N 1.0 A 1.2 160 31 0.162 202 0 0.000 4.95441099908687645e-11 0.613 --- 160,133,27,0.169 180,180,0,0.000 9.388 13.131 chr7 152511652 152511652 T C exonic ACTR3B synonymous SNV ACTR3B:NM_001040135:exon5:c.T354C:p.N118N,ACTR3B:NM_020445:exon5:c.T354C:p.N118N Score=617;Name=lod=431 Score=0.98606;Name=chr7:149960877 97 21 0.178 100 0 0.000 1.73238975418316612e-06 0.762 --- 91,72,19,0.209 81,81,0,0.000 5.648 13.318 chr7 153750101 153750101 C A exonic DPP6 synonymous SNV DPP6:NM_130797:exon1:c.C196A:p.R66R Score=515;Name=lod=165 Score=0.982276;Name=chr7:149735855 29 9 0.237 23 0 0.000 0.0105214652447193548 1.000 --- 36,26,10,0.278 18,18,0,0.000 1.671 3.878 chr7 154862883 154862883 C T exonic HTR5A synonymous SNV HTR5A:NM_024012:exon1:c.C274T:p.L92L Score=462;Name=lod=101 0 229 44 0.161 233 0 0.000 5.55215923519198744e-13 0.500 --- 242,205,37,0.153 204,204,0,0.000 10.394 14.808 chr7 155251440 155251440 G A exonic EN2 nonsynonymous SNV EN2:NM_001427:exon1:c.G368A:p.G123D 0.01 0.966965 C 1.0 D 0.497 P 0.110688 N 0.679685 D 0.258 242 42 0.148 312 0 0.000 5.43994597906598989e-15 0.619 --- 249,212,37,0.149 274,273,0,0.000 12.550 6.075 chr7 155595995 155595995 C T exonic SHH nonsynonymous SNV SHH:NM_000193:exon3:c.G988A:p.A330T Score=675;Name=lod=736 0.03 0.994965 C 0.88 T 0.17 P 0.999986 D 0.160848 N 3.34 174 32 0.155 173 0 0.000 1.12804299567974215e-09 0.438 --- 173,144,28,0.163 142,142,0,0.000 7.742 9.355 chr7 156468409 156468409 G A exonic RNF32 nonsynonymous SNV RNF32:NM_001184996:exon8:c.G704A:p.R235H,RNF32:NM_001184997:exon8:c.G704A:p.R235H,RNF32:NM_030936:exon8:c.G704A:p.R235H ID=COSM1449648,COSM1449647;OCCURENCE=1(large_intestine) 0.01 0.999399 C 0.79 T 0.905 D 1.0 D 0.977899 D 4.88 65 21 0.244 77 0 0.000 4.22464805201349154e-07 0.714 --- 78,60,17,0.221 76,75,0,0.000 5.241 10.7 chr7 157333423 157333423 C A exonic PTPRN2 nonsynonymous SNV PTPRN2:NM_130842:exon22:c.G2982T:p.K994N,PTPRN2:NM_130843:exon22:c.G2946T:p.K982N,PTPRN2:NM_002847:exon23:c.G3033T:p.K1011N Score=514;Name=lod=163 0 0.963862 C 0.97 D 0.037 B 0.999999 D 0.99442 D 3.47 102 16 0.136 117 0 0.000 1.7701322615778355e-05 0.438 --- 95,83,12,0.126 91,91,0,0.000 3.461 6.106 chr8 2830735 2830735 G A exonic CSMD1 nonsynonymous SNV CSMD1:NM_033225:exon57:c.C8827T:p.R2943C Score=518;Name=lod=170 ID=COSM1098896,COSM1098895;OCCURENCE=1(endometrium) 0.09 121 17 0.123 160 0 0.000 1.18052639404829227e-06 0.294 --- 108,95,13,0.120 132,131,0,0.000 4.667 10.34 chr8 6420295 6420295 C T exonic ANGPT2 nonsynonymous SNV ANGPT2:NM_001118887:exon1:c.G161A:p.R54H,ANGPT2:NM_001118888:exon1:c.G161A:p.R54H,ANGPT2:NM_001147:exon1:c.G161A:p.R54H Score=441;Name=lod=83 0.02 0.998926 C 0.98 D 0.989 D 0.999994 D 0.869977 D 5.29 192 24 0.111 225 0 0.000 1.82347611710607147e-08 0.500 --- 175,155,20,0.114 187,187,0,0.000 6.571 10.727 chr8 8749853 8749853 A G exonic MFHAS1 nonsynonymous SNV MFHAS1:NM_004225:exon1:c.T716C:p.L239P Score=391;Name=lod=52 0 0.998629 C 0.99 D 0.966 D 0.998629 N 0.926558 D 5.21 264 48 0.154 305 0 0.000 1.14970606398645423e-15 0.542 --- 268,227,40,0.150 261,261,0,0.000 12.385 14.331 chr8 10467191 10467191 G T exonic RP1L1 nonsynonymous SNV RP1L1:NM_178857:exon4:c.C4417A:p.L1473I 0.49 0.013427 N 0.99 D 0.252781 NA 5.93E-4 N 9.0E-5 N -5.29 167 33 0.165 213 0 0.000 9.20002946961890869e-12 0.576 --- 184,153,31,0.168 183,183,0,0.000 9.630 10.969 chr8 10470668 10470668 G A exonic RP1L1 nonsynonymous SNV RP1L1:NM_178857:exon4:c.C940T:p.R314C 0.18 0.769341 N 0.82 T 0.142 B 0.24956 N 0.001388 N -0.524 173 26 0.131 245 0 0.000 3.316738985807495e-10 0.538 --- 177,152,25,0.141 210,207,0,0.000 8.835 11.833 chr8 11188884 11188884 G A exonic SLC35G5 nonsynonymous SNV SLC35G5:NM_054028:exon1:c.G269A:p.R90H Score=569;Name=lod=273 Score=0.967486;Name=chr17:7384658 0.001153 0.0009 rs141484171 0.54 0.016105 N 0.87 T 0.841 P 0.980125 N 0.023991 N -0.703 510 82 0.139 619 0 0.000 1.49522538984338553e-27 0.512 --- 524,453,71,0.135 565,564,0,0.000 23.673 8.39 chr8 11414296 11414296 C T exonic BLK nonsynonymous SNV BLK:NM_001715:exon9:c.C902T:p.A301V Score=535;Name=lod=200 0 0.996172 C 1.0 D 0.992 D 0.999712 D 0.998012 D 3.58 189 31 0.141 191 0 0.000 1.84539222158503366e-09 0.516 --- 178,154,24,0.135 154,154,0,0.000 6.578 5.83 chr8 11607675 11607675 C T exonic GATA4 nonsynonymous SNV GATA4:NM_002052:exon4:c.C839T:p.T280M Score=436;Name=lod=79 0 0.998401 C 1.0 D 0.998 D 0.999999 D 0.999994 D 4.92 148 37 0.200 214 0 0.000 5.24368069370909238e-14 0.514 --- 144,111,32,0.224 159,158,0,0.000 11.232 15.654 chr8 11851492 11851492 G T exonic DEFB134 synonymous SNV DEFB134:NM_001033019:exon2:c.C198A:p.P66P 133 30 0.184 167 0 0.000 1.46056217546211762e-10 0.633 --- 130,105,25,0.192 132,132,0,0.000 8.167 15.353 chr8 12879399 12879399 A T exonic KIAA1456 nonsynonymous SNV KIAA1456:NM_001099677:exon2:c.A833T:p.D278V,KIAA1456:NM_020844:exon5:c.A1211T:p.D404V Score=251;Name=lod=14 0.03 80 26 0.245 166 0 0.000 2.76510323333561034e-12 0.615 --- 96,72,24,0.250 136,136,0,0.000 10.027 60 chr8 16921636 16921636 C T exonic MICU3 nonsynonymous SNV MICU3:NM_181723:exon2:c.C425T:p.A142V Score=403;Name=lod=58 1 0.998528 C 0.65 T 0.038 B 0.999988 D 0.872276 D 5.0 93 20 0.177 108 0 0.000 8.30070143791101645e-07 0.500 --- 97,79,17,0.177 90,89,0,0.000 5.073 9.673 chr8 17161886 17161886 A G splicing MTMR7 NM_004686:exon13:c.1493+2T>C Score=477;Name=lod=116 135 15 0.100 150 0 0.000 4.2246319851024884e-05 0.733 --- 123,110,13,0.106 123,123,0,0.000 3.758 4.875 chr8 17163331 17163331 A G exonic MTMR7 synonymous SNV MTMR7:NM_004686:exon11:c.T1287C:p.H429H Score=647;Name=lod=566 133 16 0.107 159 0 0.000 5.80387813870240117e-06 0.625 --- 119,107,12,0.101 123,123,0,0.000 3.828 11.983 chr8 17794737 17794737 T G exonic PCM1 nonsynonymous SNV PCM1:NM_006197:exon4:c.T191G:p.I64S Score=676;Name=lod=743 0 77 12 0.135 102 0 0.000 6.86361567737733356e-05 0.667 --- 81,69,11,0.138 92,92,0,0.000 3.828 8.922 chr8 17823533 17823533 G A exonic PCM1 nonsynonymous SNV PCM1:NM_006197:exon19:c.G2881A:p.A961T Score=524;Name=lod=179 0.05 61 18 0.228 87 0 0.000 5.00412694766865335e-07 0.722 --- 66,52,14,0.212 77,77,0,0.000 5.060 60 chr8 21767289 21767289 C T exonic DOK2 nonsynonymous SNV DOK2:NM_003974:exon5:c.G772A:p.A258T 0.65 0.082598 N 0.36 T 0.0 B 4.23E-4 N 0.100396 N -3.37 292 45 0.134 323 0 0.000 1.76635521945412339e-14 0.511 --- 295,254,41,0.139 271,271,0,0.000 12.215 15.477 chr8 21767414 21767414 C T exonic DOK2 nonsynonymous SNV DOK2:NM_003974:exon5:c.G647A:p.R216H Score=399;Name=lod=56 0.000077 0.0082 rs200168233 0 0.99711 C 1.0 D 1.0 D 1.0 D 0.742604 D 4.38 141 43 0.234 167 0 0.000 9.46683665821067064e-14 0.279 --- 163,125,38,0.233 148,148,0,0.000 11.405 60 chr8 22006360 22006360 G A exonic LGI3 synonymous SNV LGI3:NM_139278:exon8:c.C960T:p.D320D Score=474;Name=lod=113 110 27 0.197 153 0 0.000 3.60458758161326344e-10 0.481 --- 120,97,23,0.192 131,131,0,0.000 7.899 60 chr8 22065022 22065022 C T exonic BMP1 synonymous SNV BMP1:NM_006129:exon18:c.C2568T:p.H856H Score=407;Name=lod=60 0.000154 152 38 0.200 212 0 0.000 4.91862340683912919e-14 0.237 --- 163,132,31,0.190 174,174,0,0.000 10.485 6.859 chr8 22161625 22161625 C T exonic PIWIL2 nonsynonymous SNV PIWIL2:NM_001135721:exon11:c.C1273T:p.R425C,PIWIL2:NM_018068:exon11:c.C1273T:p.R425C Score=627;Name=lod=470 0.000077 ID=COSM183144;OCCURENCE=1(large_intestine) 0 0.999392 C 1.0 D 0.999 D 1.0 D 0.999993 D 5.82 46 12 0.207 68 0 0.000 4.58033700231151725e-05 0.500 --- 44,36,8,0.182 52,52,0,0.000 2.874 13.62 chr8 22481491 22481491 C T exonic BIN3 synonymous SNV BIN3:NM_018688:exon8:c.G552A:p.P184P 138 25 0.153 208 0 0.000 3.86231320218272433e-10 0.520 --- 142,119,23,0.162 170,170,0,0.000 8.320 7.052 chr8 23560152 23560152 G A exonic NKX2-6 nonsynonymous SNV NKX2-6:NM_001136271:exon2:c.C718T:p.P240S Score=272;Name=lod=17 0.06 164 40 0.196 244 0 0.000 2.15778529296202286e-15 0.450 --- 182,145,37,0.203 195,195,0,0.000 12.616 60 chr8 24187576 24187576 G A exonic ADAM28 nonsynonymous SNV ADAM28:NM_014265:exon11:c.G1051A:p.D351N,ADAM28:NM_021777:exon11:c.G1051A:p.D351N 0.77 0.009268 N 0.73 T 0.0 B 0.568973 NA 7.0E-6 N -10.8 155 42 0.213 201 0 0.000 1.25597676615449891e-14 0.524 --- 157,123,33,0.212 155,154,0,0.000 10.449 60 chr8 27737134 27737134 C T exonic SCARA5 nonsynonymous SNV SCARA5:NM_173833:exon8:c.G1303A:p.G435S Score=643;Name=lod=547 0 0.998214 C 1.0 D 0.993 D 1.0 D 0.997763 D 4.82 135 29 0.177 174 0 0.000 1.92928485521769449e-10 0.483 --- 136,111,25,0.184 145,145,0,0.000 8.423 14.449 chr8 27824042 27824042 G A exonic SCARA5 nonsynonymous SNV SCARA5:NM_173833:exon3:c.C130T:p.R44W 0.000077 rs149173037 0 0.999679 C 1.0 D 0.998 D 0.999959 D 0.223103 N 4.3 106 20 0.159 138 0 0.000 1.60077477417876701e-07 0.250 --- 100,84,16,0.160 110,110,0,0.000 5.451 5.281 chr8 28210115 28210115 G A exonic ZNF395 stopgain ZNF395:NM_018660:exon6:c.C895T:p.R299X Score=522;Name=lod=176 1 0.987726 C 0.902888 NA 0.733541 NA 1.0 D 1.0 A 2.39 109 20 0.155 131 0 0.000 3.65908558105325809e-07 0.450 --- 106,91,14,0.133 104,104,0,0.000 4.115 9.986 chr8 28608250 28608250 G A exonic EXTL3 nonsynonymous SNV EXTL3:NM_001440:exon7:c.G2627A:p.R876Q Score=648;Name=lod=576 0 0.999634 C 1.0 D 1.0 D 1.0 D 0.999978 D 5.26 104 29 0.218 120 0 0.000 1.61588943740342394e-09 0.690 --- 106,81,25,0.236 100,100,0,0.000 7.816 15.477 chr8 28928176 28928176 G A exonic KIF13B nonsynonymous SNV KIF13B:NM_015254:exon40:c.C5326T:p.R1776W Score=358;Name=lod=38 0 153 19 0.110 180 0 0.000 7.20054213379446713e-07 0.368 --- 146,128,18,0.123 151,151,0,0.000 5.797 9.667 chr8 29923631 29923631 C T exonic TMEM66 synonymous SNV TMEM66:NM_016127:exon5:c.G867A:p.S289S 0.000077 101 25 0.198 147 0 0.000 9.74889752679229247e-10 0.320 --- 102,81,21,0.206 113,113,0,0.000 7.323 11.758 chr8 30704291 30704291 T C exonic TEX15 nonsynonymous SNV TEX15:NM_031271:exon1:c.A2243G:p.K748R 0.39 0.973148 C 0.45 T 0.209 P 0.660158 N 0.003576 N 4.33 153 20 0.116 153 0 0.000 1.94820047279581166e-06 0.450 --- 143,127,16,0.112 129,129,0,0.000 4.581 9.375 chr8 37702357 37702357 C T exonic BRF2 nonsynonymous SNV BRF2:NM_018310:exon4:c.G911A:p.R304H Score=462;Name=lod=101 0.016 0 0.998936 C 0.98 D 0.999 D 1.0 D 0.936661 D 5.29 176 33 0.158 190 0 0.000 1.50881335952595889e-10 0.424 --- 171,143,28,0.164 161,161,0,0.000 8.511 10.534 chr8 38677346 38677346 C T exonic TACC1 nonsynonymous SNV TACC1:NM_006283:exon3:c.C584T:p.A195V 0.000077 rs141798350 0.01 0.972269 C 0.99 D 0.0 B 0.967527 N 0.044127 N 2.03 214 48 0.183 322 0 0.000 1.44181549099532391e-18 0.521 --- 225,181,44,0.196 261,261,0,0.000 15.801 8.348 chr8 38934827 38934827 C T exonic ADAM9 nonsynonymous SNV ADAM9:NM_003816:exon16:c.C1778T:p.T593M Score=422;Name=lod=69 ID=COSM1181818;OCCURENCE=1(large_intestine) 0 0.98382 C 0.98 D 0.996 D 1.0 D 0.979727 D 4.6 142 16 0.101 171 0 0.000 5.28616199382017774e-06 0.438 --- 122,108,14,0.115 132,132,0,0.000 4.637 9.035 chr8 41456739 41456739 C T exonic AGPAT6 synonymous SNV AGPAT6:NM_178819:exon2:c.C81T:p.L27L Score=459;Name=lod=98 157 23 0.128 179 0 0.000 1.12600245168114072e-07 0.522 --- 143,123,20,0.140 145,145,0,0.000 6.393 10.694 chr8 42040289 42040289 C T exonic PLAT nonsynonymous SNV PLAT:NM_033011:exon7:c.G613A:p.A205T,PLAT:NM_000930:exon8:c.G751A:p.A251T Score=325;Name=lod=28 0.02 0.913708 N 0.95 T 0.0010 B 0.999999 N 0.996006 D 2.83 95 13 0.120 101 0 0.000 0.000180504580605782771 0.462 --- 93,78,13,0.143 84,84,0,0.000 3.762 6.623 chr8 42175259 42175259 C T exonic IKBKB nonsynonymous SNV IKBKB:NM_001190720:exon11:c.C1204T:p.R402W,IKBKB:NM_001242778:exon11:c.C1033T:p.R345W,IKBKB:NM_001556:exon12:c.C1210T:p.R404W Score=535;Name=lod=199 0 0.998706 C 1.0 D 0.979 D 0.999992 D 0.963422 D 4.05 72 22 0.234 93 0 0.000 1.18619506756589942e-07 0.364 --- 79,61,18,0.228 67,67,0,0.000 4.936 9.891 chr8 42294521 42294521 G A exonic SLC20A2 synonymous SNV SLC20A2:NM_001257180:exon8:c.C1509T:p.G503G,SLC20A2:NM_001257181:exon8:c.C1509T:p.G503G,SLC20A2:NM_006749:exon8:c.C1509T:p.G503G Score=420;Name=lod=68 123 27 0.180 123 0 0.000 3.30578965959507812e-08 0.741 --- 131,109,22,0.168 108,108,0,0.000 6.003 10.063 chr8 43024372 43024372 G A exonic HGSNAT nonsynonymous SNV HGSNAT:NM_152419:exon6:c.G620A:p.R207H Score=546;Name=lod=220 0.0009 rs192297314 0.05 52 8 0.133 56 0 0.000 0.00626336464611590005 0.500 --- 48,41,7,0.146 42,42,0,0.000 1.871 6.3 chr8 48511696 48511696 C T exonic KIAA0146 synonymous SNV KIAA0146:NM_001080394:exon10:c.C1482T:p.S494S 186 22 0.106 223 0 0.000 5.96729810703669496e-08 0.455 --- 161,145,16,0.099 179,179,0,0.000 5.373 8.994 chr8 48794588 48794588 A G exonic PRKDC unknown UNKNOWN Score=385;Name=lod=49 0.13 116 25 0.177 143 0 0.000 7.71483628560391233e-09 0.560 --- 117,95,22,0.188 116,116,0,0.000 6.795 15.955 chr8 48839811 48839811 A G exonic PRKDC unknown UNKNOWN Score=437;Name=lod=80 0.42 97 15 0.134 133 0 0.000 4.62099623695229245e-06 0.533 --- 93,81,12,0.129 103,103,0,0.000 4.058 7.997 chr8 48872591 48872591 A G exonic PRKDC unknown UNKNOWN 165 19 0.103 224 0 0.000 1.57025561609648972e-07 0.474 --- 166,152,14,0.084 210,210,0,0.000 5.110 3.919 chr8 48885588 48885588 G A exonic MCM4 synonymous SNV MCM4:NM_005914:exon13:c.G2100A:p.P700P,MCM4:NM_182746:exon14:c.G2100A:p.P700P 101 23 0.185 140 0 0.000 8.61398493534096814e-09 0.261 --- 107,86,21,0.196 119,119,0,0.000 7.316 7.26 chr8 49832501 49832501 C T exonic SNAI2 synonymous SNV SNAI2:NM_003068:exon2:c.G579A:p.A193A Score=643;Name=lod=545 112 19 0.145 128 0 0.000 1.92224055116641288e-06 0.526 --- 112,97,15,0.134 114,114,0,0.000 4.793 6.306 chr8 52321711 52321711 G A exonic PXDNL nonsynonymous SNV PXDNL:NM_144651:exon17:c.C2473T:p.R825C Score=346;Name=lod=34 0.02 192 54 0.220 263 0 0.000 3.0301596709360503e-19 0.333 --- 214,167,47,0.220 216,215,0,0.000 15.432 60 chr8 52744004 52744004 G A exonic PCMTD1 nonsynonymous SNV PCMTD1:NM_052937:exon5:c.C706T:p.P236S Score=662;Name=lod=656 0 0.99955 C 0.88 T 0.999 D 1.0 D 0.99856 D 5.1 74 26 0.260 128 0 0.000 6.13295711451554394e-11 0.577 --- 81,62,19,0.235 105,105,0,0.000 7.442 6.105 chr8 53574199 53574199 A T exonic RB1CC1 nonsynonymous SNV RB1CC1:NM_001083617:exon9:c.T1254A:p.N418K,RB1CC1:NM_014781:exon9:c.T1254A:p.N418K Score=741;Name=lod=1370 0.4 0.998654 C 0.97 D 0.996 D 1.0 D 0.999321 D 5.21 141 20 0.124 187 0 0.000 1.02811131451402885e-07 0.250 --- 129,111,18,0.140 138,138,0,0.000 5.972 4.369 chr8 54900682 54900682 C T exonic TCEA1 nonsynonymous SNV TCEA1:NM_201437:exon4:c.G395A:p.R132Q,TCEA1:NM_006756:exon5:c.G458A:p.R153Q Score=485;Name=lod=125 ID=COSM263989;OCCURENCE=1(large_intestine) 0.78 93 19 0.170 151 0 0.000 3.48569491184419996e-08 0.632 --- 93,77,16,0.172 122,122,0,0.000 6.169 4.122 chr8 57079996 57079996 C T exonic PLAG1 synonymous SNV PLAG1:NM_001114635:exon3:c.G63A:p.R21R,PLAG1:NM_001114634:exon4:c.G309A:p.R103R,PLAG1:NM_002655:exon5:c.G309A:p.R103R Score=692;Name=lod=863 66 14 0.175 117 0 0.000 1.59105661174486017e-06 0.429 --- 69,57,12,0.174 92,92,0,0.000 4.674 11.025 chr8 59548053 59548053 C A exonic NSMAF nonsynonymous SNV NSMAF:NM_001144772:exon3:c.G295T:p.D99Y,NSMAF:NM_003580:exon3:c.G202T:p.D68Y Score=543;Name=lod=215 0.02 0.99861 C 0.98 D 0.925 D 1.0 D 0.999649 D 5.05 53 13 0.197 51 0 0.000 0.000507296376788515784 0.538 --- 58,45,13,0.224 44,44,0,0.000 3.324 5.216 chr8 59727990 59727990 C T exonic TOX nonsynonymous SNV TOX:NM_014729:exon7:c.G1299A:p.M433I Score=562;Name=lod=257 0.000923 0.0018 rs141236740 0.21 0.999193 C 0.67 T 0.0010 B 0.998953 N 0.054774 N 4.56 258 59 0.186 382 0 0.000 2.13348370495271955e-22 0.492 --- 261,210,51,0.195 313,313,0,0.000 18.735 11.839 chr8 67062636 67062636 T C exonic TRIM55 nonsynonymous SNV TRIM55:NM_033058:exon7:c.T920C:p.M307T,TRIM55:NM_184085:exon7:c.T920C:p.M307T,TRIM55:NM_184086:exon7:c.T920C:p.M307T Score=668;Name=lod=689 0 0.998116 C 1.0 D 0.999 D 1.0 D 0.75804 D 5.38 120 23 0.161 134 0 0.000 1.17271528250465024e-07 0.478 --- 123,107,16,0.130 107,106,0,0.000 4.496 60 chr8 67926773 67926773 T C exonic PPP1R42 nonsynonymous SNV PPP1R42:NM_001013626:exon3:c.A184G:p.I62V Score=355;Name=lod=37 0.02 0.998032 C 0.92 T 0.391 P 1.0 D 0.690754 D 5.33 46 13 0.220 58 0 0.000 0.000116359896272477163 0.615 --- 45,35,10,0.222 46,46,0,0.000 3.304 7.728 chr8 68031026 68031026 C T exonic CSPP1 nonsynonymous SNV CSPP1:NM_024790:exon13:c.C1652T:p.P551L Score=471;Name=lod=109 0.01 0.998862 C 0.802012 NA 0.491885 NA 0.999992 D 0.178582 N 5.23 61 8 0.116 91 0 0.000 0.000937691581008246635 0.500 --- 60,54,6,0.100 72,71,0,0.000 2.096 6.757 chr8 70970960 70970960 C T exonic PRDM14 nonsynonymous SNV PRDM14:NM_024504:exon6:c.G1301A:p.C434Y Score=488;Name=lod=128 0 0.999027 C 1.0 D 0.999 D 1.0 D 0.999759 D 5.38 110 14 0.113 116 0 0.000 9.10419255688069478e-05 0.714 --- 105,93,12,0.114 91,89,0,0.000 3.282 8.198 chr8 71039096 71039096 G A exonic NCOA2 nonsynonymous SNV NCOA2:NM_006540:exon19:c.C3868T:p.R1290W Score=545;Name=lod=219 0.01 100 20 0.167 135 1 0.007 2.09277859654955624e-06 0.650 1.000 96,79,17,0.177 113,112,1,0.009 4.782 9.534 chr8 71646182 71646182 G A exonic XKR9 synonymous SNV XKR9:NM_001011720:exon5:c.G645A:p.S215S Score=488;Name=lod=128 0 rs200986901 115 24 0.173 152 0 0.000 6.41028062214590513e-09 0.500 --- 124,102,20,0.164 129,129,0,0.000 6.644 11.313 chr8 73480364 73480364 A G exonic KCNB2 nonsynonymous SNV KCNB2:NM_004770:exon2:c.A395G:p.Y132C Score=646;Name=lod=564 0 0.999131 C 1.0 D 1.0 D 0.995534 U 0.978758 D 5.64 133 26 0.164 154 0 0.000 1.05682245526190332e-08 0.500 --- 139,116,23,0.165 127,127,0,0.000 6.852 60 chr8 73848939 73848939 T A exonic KCNB2 nonsynonymous SNV KCNB2:NM_004770:exon3:c.T1349A:p.V450D Score=513;Name=lod=162 0 0.998142 C 1.0 D 0.998 D 0.988318 N 0.9998 D 5.39 132 31 0.190 188 0 0.000 8.7438338003388267e-12 0.484 --- 144,118,26,0.181 170,170,0,0.000 9.384 15.256 chr8 77618625 77618625 C T exonic ZFHX4 nonsynonymous SNV ZFHX4:NM_024721:exon2:c.C2302T:p.R768W Score=610;Name=lod=401 0 224 36 0.138 317 0 0.000 8.2631529402405031e-14 0.556 --- 226,195,30,0.133 273,272,0,0.000 10.816 60 chr8 77766951 77766951 C T exonic ZFHX4 synonymous SNV ZFHX4:NM_024721:exon10:c.C7794T:p.S2598S Score=378;Name=lod=46 225 41 0.154 332 0 0.000 5.9209403055539271e-16 0.634 --- 244,201,43,0.176 294,293,1,0.003 14.303 60 chr8 80553639 80553639 C T exonic STMN2 nonsynonymous SNV STMN2:NM_001199214:exon3:c.C142T:p.R48C,STMN2:NM_007029:exon3:c.C142T:p.R48C Score=621;Name=lod=445 0.12 0.998965 C 0.958912 NA 1.0 D 1.0 D 0.997603 D 5.33 140 24 0.146 182 0 0.000 6.37447389733077045e-09 0.542 --- 132,113,19,0.144 144,144,0,0.000 6.402 11.459 chr8 88885732 88885732 G A exonic DCAF4L2 synonymous SNV DCAF4L2:NM_152418:exon1:c.C468T:p.A156A Score=251;Name=lod=14 ID=COSM486735;OCCURENCE=1(kidney) 273 40 0.128 322 0 0.000 1.33291794030137013e-13 0.400 --- 266,231,34,0.128 280,280,0,0.000 11.151 14.353 chr8 88885766 88885766 C T exonic DCAF4L2 nonsynonymous SNV DCAF4L2:NM_152418:exon1:c.G434A:p.C145Y Score=471;Name=lod=109 0.01 0.963611 C 0.97 D 0.999 D 1.0 D 0.990923 D 1.09 247 44 0.151 308 0 0.000 2.62824045112104938e-15 0.591 --- 268,225,42,0.157 276,275,0,0.000 13.686 60 chr8 88885862 88885862 C T exonic DCAF4L2 nonsynonymous SNV DCAF4L2:NM_152418:exon1:c.G338A:p.R113Q 0.43 0.013551 N 0.43 T 0.0080 B 0.937439 N 7.8E-5 N -1.62 263 45 0.146 322 0 0.000 1.75826279995034467e-15 0.556 --- 263,227,36,0.137 280,279,0,0.000 11.880 60 chr8 88886165 88886165 G A exonic DCAF4L2 nonsynonymous SNV DCAF4L2:NM_152418:exon1:c.C35T:p.A12V Score=251;Name=lod=14 0.01 0.104225 N 0.94 T 0.0020 B 0.999346 N 3.09E-4 N -2.79 156 28 0.152 173 0 0.000 3.42111441404513587e-09 0.250 --- 158,135,23,0.146 146,146,0,0.000 6.840 15.654 chr8 90936801 90936801 G A exonic OSGIN2 nonsynonymous SNV OSGIN2:NM_001126111:exon6:c.G691A:p.G231S,OSGIN2:NM_004337:exon6:c.G559A:p.G187S Score=591;Name=lod=337 0.04 0.99925 C 0.88 T 0.721609 NA 1.0 D 0.997544 D 4.72 71 17 0.193 99 0 0.000 1.10383790872318957e-06 0.529 --- 69,56,13,0.188 91,91,0,0.000 5.055 9.901 chr8 91033286 91033286 T C splicing DECR1 NM_001359:exon5:c.565+2T>C Score=520;Name=lod=173 75 10 0.118 113 0 0.000 0.000154475651200794361 0.300 --- 74,65,9,0.122 95,95,0,0.000 3.354 3.826 chr8 92139317 92139317 T C exonic LRRC69 synonymous SNV LRRC69:NM_001129890:exon3:c.T312C:p.D104D Score=512;Name=lod=161 60 8 0.118 83 0 0.000 0.00133157667938440119 0.625 --- 55,49,6,0.109 66,66,0,0.000 2.122 5.584 chr8 95501050 95501050 G A exonic KIAA1429 nonsynonymous SNV KIAA1429:NM_015496:exon24:c.C5323T:p.R1775C Score=562;Name=lod=257 0 0.999679 C 1.0 D 1.0 D 1.0 D 0.99625 D 5.36 129 16 0.110 148 0 0.000 8.32036465188581531e-06 0.375 --- 122,108,13,0.107 111,110,0,0.000 3.688 6.862 chr8 95524271 95524271 G A exonic KIAA1429 nonsynonymous SNV KIAA1429:NM_015496:exon12:c.C2798T:p.A933V,KIAA1429:NM_183009:exon12:c.C2798T:p.A933V Score=618;Name=lod=433 0.01 0.999555 C 0.98 D 0.96 D 0.999999 D 0.999482 D 5.12 66 20 0.233 83 0 0.000 5.74653272106448287e-07 0.400 --- 71,56,15,0.211 66,65,0,0.000 4.489 15.955 chr8 95680237 95680237 G A exonic ESRP1 nonsynonymous SNV ESRP1:NM_001034915:exon10:c.G992A:p.R331Q,ESRP1:NM_001122825:exon10:c.G992A:p.R331Q,ESRP1:NM_001122826:exon10:c.G992A:p.R331Q,ESRP1:NM_001122827:exon10:c.G992A:p.R331Q,ESRP1:NM_017697:exon10:c.G992A:p.R331Q Score=600;Name=lod=366 0 94 14 0.130 100 0 0.000 8.83924649575383851e-05 0.714 --- 94,81,13,0.138 83,83,0,0.000 3.684 9.173 chr8 95686539 95686539 C T exonic ESRP1 nonsynonymous SNV ESRP1:NM_001034915:exon12:c.C1456T:p.R486C,ESRP1:NM_001122825:exon12:c.C1456T:p.R486C,ESRP1:NM_001122826:exon12:c.C1456T:p.R486C,ESRP1:NM_001122827:exon12:c.C1456T:p.R486C,ESRP1:NM_017697:exon12:c.C1456T:p.R486C Score=767;Name=lod=1738 ID=COSM1251508,COSM1251509;OCCURENCE=1(oesophagus) 0 86 18 0.173 113 0 0.000 7.70915551387011533e-07 0.611 --- 87,75,12,0.138 91,91,0,0.000 3.911 11.384 chr8 97269208 97269208 G A exonic MTERFD1 stopgain MTERFD1:NM_015942:exon3:c.C469T:p.Q157X Score=554;Name=lod=238 0.4 0.91606 N 0.902612 NA 0.662208 NA 0.662087 N 1.0 A 2.41 123 15 0.109 125 0 0.000 5.18758545709283095e-05 0.600 --- 116,104,12,0.103 112,112,0,0.000 3.434 7.487 chr8 97621679 97621679 G A exonic SDC2 nonsynonymous SNV SDC2:NM_002998:exon5:c.G509A:p.R170H Score=705;Name=lod=977 ID=COSM1458780;OCCURENCE=1(large_intestine) 0 0.995214 C 1.0 D 0.998 D 1.0 N 0.790563 NA 4.36 90 12 0.118 114 0 0.000 8.56377332637489766e-05 0.583 --- 81,73,8,0.099 94,94,0,0.000 2.761 6.148 chr8 101620766 101620766 C T exonic SNX31 nonsynonymous SNV SNX31:NM_152628:exon8:c.G637A:p.V213M 0.000461 0.0009 ID=COSM199864;OCCURENCE=1(large_intestine) rs138819788 0.08 0.005559 N 0.72 T 0.0 B 0.178131 N 3.4E-5 N -4.85 82 16 0.163 77 0 0.000 7.16744909210718645e-05 0.312 --- 76,64,12,0.158 64,64,0,0.000 3.327 8.359 chr8 102570769 102570769 G A exonic GRHL2 nonsynonymous SNV GRHL2:NM_024915:exon4:c.G407A:p.R136Q Score=363;Name=lod=40 0.02 0.999414 C 0.85 T 0.543 P 1.0 D 0.998732 D 4.91 108 27 0.200 155 0 0.000 2.3196116951236061e-10 0.741 --- 118,95,22,0.188 130,130,0,0.000 7.636 13.74 chr8 103292693 103292693 G A exonic UBR5 nonsynonymous SNV UBR5:NM_015902:exon42:c.C5930T:p.T1977M Score=674;Name=lod=732 0.000077 0.07 0.999434 C 0.702965 NA 0.024 B 0.999999 D 0.157052 N 4.94 55 9 0.141 90 0 0.000 0.000260311926286587386 0.333 --- 52,45,7,0.135 68,68,0,0.000 2.648 5.878 chr8 104897828 104897828 G A exonic RIMS2 nonsynonymous SNV RIMS2:NM_014677:exon2:c.G425A:p.R142Q,RIMS2:NM_001100117:exon4:c.G1001A:p.R334Q Score=569;Name=lod=273 ID=COSM200323,COSM1223766,COSM200324,COSM200322,COSM1223767;OCCURENCE=2(large_intestine) 0 0.999456 C 1.0 D 0.999 D 0.880533 NA 0.0 N 4.97 116 19 0.141 120 0 0.000 3.24144358842662355e-06 0.737 --- 116,99,17,0.147 104,103,0,0.000 4.904 8.947 chr8 105001556 105001556 G A exonic RIMS2 nonsynonymous SNV RIMS2:NM_014677:exon14:c.G2327A:p.R776Q,RIMS2:NM_001100117:exon17:c.G2951A:p.R984Q Score=485;Name=lod=125 0.000084 ID=COSM263351,COSM263352,COSM263350;OCCURENCE=1(large_intestine) 0 0.999595 C 0.99 D 0.959 D 0.878919 NA 0.0 N 5.19 38 14 0.269 47 0 0.000 5.55412450952275427e-05 0.571 --- 40,30,10,0.250 37,37,0,0.000 2.962 60 chr8 107782309 107782309 G A exonic ABRA nonsynonymous SNV ABRA:NM_139166:exon1:c.C110T:p.A37V Score=495;Name=lod=137 0.15 0.999656 C 0.69 T 0.98 D 0.999999 D 0.995709 D 5.31 229 29 0.112 253 0 0.000 1.67557282199780813e-09 0.276 --- 207,182,25,0.121 224,223,0,0.000 8.284 10.891 chr8 110451185 110451185 G A exonic PKHD1L1 nonsynonymous SNV PKHD1L1:NM_177531:exon32:c.G3820A:p.A1274T 0.69 90 18 0.167 141 0 0.000 1.23569393851254105e-07 0.611 --- 93,76,16,0.174 107,107,0,0.000 5.693 11.174 chr8 113326823 113326823 G A exonic CSMD3 nonsynonymous SNV CSMD3:NM_052900:exon47:c.C7072T:p.R2358W,CSMD3:NM_198123:exon48:c.C7384T:p.R2462W,CSMD3:NM_198124:exon49:c.C7264T:p.R2422W Score=515;Name=lod=165 rs199998952 0.02 0.999571 C 0.97 D 0.999 D 0.999999 D 0.999639 D 4.63 64 11 0.147 87 0 0.000 0.000137172815811952976 0.182 --- 61,51,10,0.164 69,69,0,0.000 3.470 10.565 chr8 113960054 113960054 T C exonic CSMD3 synonymous SNV CSMD3:NM_052900:exon8:c.A1161G:p.E387E,CSMD3:NM_198123:exon9:c.A1473G:p.E491E,CSMD3:NM_198124:exon10:c.A1353G:p.E451E Score=651;Name=lod=587 17 5 0.227 43 0 0.000 0.00318817882276369849 0.400 --- 20,17,3,0.150 31,31,0,0.000 1.262 5.211 chr8 116430601 116430601 C T exonic TRPS1 nonsynonymous SNV TRPS1:NM_014112:exon6:c.G2780A:p.G927E Score=703;Name=lod=959 0.06 0.999107 C 0.94 T 0.992 D 1.0 D 0.98935 D 5.46 181 37 0.170 262 0 0.000 3.37048885611972467e-14 0.351 --- 170,141,29,0.171 215,214,0,0.000 10.892 12.099 chr8 121344962 121344962 C A exonic COL14A1 synonymous SNV COL14A1:NM_021110:exon42:c.C4773A:p.A1591A Score=419;Name=lod=67 94 16 0.145 128 0 0.000 2.30779410849793902e-06 0.438 --- 83,70,12,0.146 95,95,0,0.000 4.211 9.367 chr8 124267643 124267643 G A exonic ZHX1 nonsynonymous SNV ZHX1:NM_001017926:exon3:c.C544T:p.P182S,ZHX1:NM_007222:exon3:c.C544T:p.P182S Score=565;Name=lod=263 0 0.999594 C 1.0 D 0.972 D 1.0 D 0.944073 D 5.19 177 33 0.157 200 0 0.000 7.98905939814133107e-11 0.424 --- 192,160,31,0.162 176,175,0,0.000 9.285 5.826 chr8 124340659 124340659 A G exonic ATAD2 synonymous SNV ATAD2:NM_014109:exon25:c.T3639C:p.N1213N Score=278;Name=lod=18 150 48 0.242 185 0 0.000 7.80263727381570978e-16 0.438 --- 174,130,43,0.249 160,160,0,0.000 13.468 60 chr8 124351619 124351619 C T exonic ATAD2 nonsynonymous SNV ATAD2:NM_014109:exon20:c.G2786A:p.R929Q Score=575;Name=lod=290 0 0.999082 C 0.81 T 1.0 D 1.0 D 0.909339 D 5.44 80 17 0.175 84 0 0.000 1.29719860564698051e-05 0.647 --- 76,61,15,0.197 69,68,0,0.000 4.415 6.815 chr8 133492604 133492604 G A exonic KCNQ3 nonsynonymous SNV KCNQ3:NM_004519:exon1:c.C176T:p.A59V Score=500;Name=lod=143 1 0.998636 C 0.0 T 0.0040 B 0.873794 N 0.014178 N 3.75 120 14 0.104 146 0 0.000 2.27697831872131977e-05 0.214 --- 107,96,11,0.103 114,114,0,0.000 3.586 6.312 chr8 133883697 133883697 G A exonic TG nonsynonymous SNV TG:NM_003235:exon4:c.G379A:p.A127T 0.38 0.038368 N 0.98 D 0.0 B 0.57731 N 1.21E-4 N -8.22 110 31 0.220 169 0 0.000 3.3046254764351169e-12 0.548 --- 116,93,23,0.198 136,136,0,0.000 8.315 60 chr8 133953738 133953738 C T exonic TG synonymous SNV TG:NM_003235:exon26:c.C5184T:p.C1728C Score=304;Name=lod=23 0.000154 165 24 0.127 191 0 0.000 2.3997359411575997e-08 0.542 --- 163,142,21,0.129 156,156,0,0.000 6.278 7.415 chr8 140715199 140715199 C T exonic KCNK9 nonsynonymous SNV KCNK9:NM_016601:exon1:c.G37A:p.V13I Score=726;Name=lod=1188 0.29 0.17099 N 0.76 T 0.0 B 0.194163 N 0.037472 N -2.85 151 27 0.152 181 0 0.000 2.02718464540900783e-09 0.296 --- 138,115,23,0.167 147,147,0,0.000 7.692 10.857 chr8 141034080 141034080 C T exonic TRAPPC9 nonsynonymous SNV TRAPPC9:NM_001160372:exon18:c.G2653A:p.E885K,TRAPPC9:NM_031466:exon18:c.G2947A:p.E983K Score=355;Name=lod=37 0.000154 rs138928835 0.24 0.998548 C 0.97 D 0.458 P 1.0 D 0.644586 D 5.01 142 30 0.174 182 0 0.000 9.50019355474017867e-11 0.433 --- 147,121,26,0.177 144,144,0,0.000 8.040 10.425 chr8 141293999 141293999 G T exonic TRAPPC9 synonymous SNV TRAPPC9:NM_001160372:exon14:c.C2103A:p.T701T,TRAPPC9:NM_031466:exon14:c.C2397A:p.T799T 105 22 0.173 150 0 0.000 1.20874619513789368e-08 0.500 --- 105,85,20,0.190 119,119,0,0.000 7.041 9.857 chr8 141542163 141542163 G A exonic AGO2 nonsynonymous SNV AGO2:NM_001164623:exon18:c.C2458T:p.R820C,AGO2:NM_012154:exon19:c.C2560T:p.R854C Score=541;Name=lod=210 0 0.999704 C 1.0 D 0.914 D 1.0 D 0.678071 D 5.42 82 22 0.212 94 0 0.000 2.34114382729406826e-07 0.545 --- 83,68,15,0.181 78,78,0,0.000 4.475 13.729 chr8 142221562 142221562 C A exonic SLC45A4 synonymous SNV SLC45A4:NM_001080431:exon8:c.G2376T:p.G792G 163 20 0.109 202 0 0.000 1.94990415159853e-07 0.600 --- 143,126,17,0.119 171,171,0,0.000 6.046 3.23 chr8 142367777 142367777 G A exonic GPR20 nonsynonymous SNV GPR20:NM_005293:exon2:c.C247T:p.R83W 0.02 0.82543 N 0.99 D 0.967 D 0.797401 N 0.022767 N -2.34 131 30 0.186 173 0 0.000 6.65236202176348125e-11 0.500 --- 138,111,26,0.190 139,139,0,0.000 8.482 60 chr8 143381879 143381879 G A exonic TSNARE1 nonsynonymous SNV TSNARE1:NM_145003:exon10:c.C1258T:p.R420W 0.000077 0.01 0.767207 N 0.99 D 0.958 D 0.995949 U 0.003394 N -2.03 161 25 0.134 195 0 0.000 6.77341416425603942e-09 0.520 --- 156,134,22,0.141 161,161,0,0.000 7.126 13.354 chr8 143569745 143569745 C A exonic BAI1 nonsynonymous SNV BAI1:NM_001702:exon13:c.C2329A:p.P777T Score=471;Name=lod=109 0 173 27 0.135 230 0 0.000 3.87176175855965443e-10 0.741 --- 167,144,23,0.138 182,182,0,0.000 7.730 5.992 chr8 143996645 143996645 G A exonic CYP11B2 nonsynonymous SNV CYP11B2:NM_000498:exon3:c.C412T:p.R138C Score=321;Name=lod=27 Score=0.927097;Name=chr8:143954579 0 0.874983 N 1.0 D 0.018 B 0.993461 N 0.83718 D 0.169 115 16 0.122 129 0 0.000 1.88247623333737732e-05 0.188 --- 109,95,14,0.128 106,105,0,0.000 4.095 7.418 chr8 144811384 144811384 G A exonic FAM83H nonsynonymous SNV FAM83H:NM_198488:exon3:c.C557T:p.A186V 0.33 0.999501 C 0.16 T 0.907 D 0.988811 N 0.487272 N 3.79 153 39 0.203 178 0 0.000 1.01201666759510409e-12 0.385 --- 160,125,35,0.219 145,145,0,0.000 10.662 60 chr8 144945184 144945184 G A exonic EPPK1 synonymous SNV EPPK1:NM_031308:exon1:c.C2238T:p.R746R Score=477;Name=lod=116 482 120 0.199 608 0 0.000 5.47751523833542535e-40 0.500 --- 497,395,101,0.204 497,496,0,0.000 32.568 60 chr8 144998677 144998677 C T exonic PLEC nonsynonymous SNV PLEC:NM_201378:exon31:c.G5378A:p.R1793H,PLEC:NM_201379:exon31:c.G5354A:p.R1785H,PLEC:NM_201380:exon31:c.G5831A:p.R1944H,PLEC:NM_201381:exon31:c.G5324A:p.R1775H,PLEC:NM_201382:exon31:c.G5420A:p.R1807H,PLEC:NM_201383:exon31:c.G5432A:p.R1811H,PLEC:NM_201384:exon31:c.G5420A:p.R1807H,PLEC:NM_000445:exon32:c.G5501A:p.R1834H Score=385;Name=lod=49 0.02 0.997488 C 0.95 T 0.759185 NA 0.999992 U 0.992156 D 3.98 191 23 0.107 190 0 0.000 2.63503841241240191e-07 0.652 --- 182,161,21,0.115 167,167,0,0.000 6.133 6.893 chr8 145000972 145000972 G A exonic PLEC nonsynonymous SNV PLEC:NM_201378:exon30:c.C3982T:p.R1328W,PLEC:NM_201379:exon30:c.C3958T:p.R1320W,PLEC:NM_201380:exon30:c.C4435T:p.R1479W,PLEC:NM_201381:exon30:c.C3928T:p.R1310W,PLEC:NM_201382:exon30:c.C4024T:p.R1342W,PLEC:NM_201383:exon30:c.C4036T:p.R1346W,PLEC:NM_201384:exon30:c.C4024T:p.R1342W,PLEC:NM_000445:exon31:c.C4105T:p.R1369W Score=532;Name=lod=194 0.000078 0 0.923446 N 1.0 D 0.775805 NA 0.997701 U 0.983616 D 1.75 70 15 0.176 96 0 0.000 5.82329080466009328e-06 0.800 --- 72,59,13,0.181 82,82,0,0.000 4.567 9.468 chr8 145057105 145057105 C T exonic PARP10 nonsynonymous SNV PARP10:NM_032789:exon9:c.G2551A:p.V851I 0.37 0.807704 N 0.95 T 0.084 B 0.938319 N 0.753478 D -0.497 216 57 0.209 218 0 0.000 1.70432052962068122e-16 0.526 --- 232,186,46,0.198 193,193,0,0.000 12.999 60 chr8 145086702 145086702 T C exonic SPATC1 nonsynonymous SNV SPATC1:NM_001134374:exon1:c.T19C:p.Y7H,SPATC1:NM_198572:exon1:c.T19C:p.Y7H Score=500;Name=lod=144 0 85 17 0.167 84 0 0.000 3.24083993396507414e-05 0.706 --- 93,77,16,0.172 74,73,0,0.000 4.160 5.95 chr8 145540252 145540252 C T exonic DGAT1 nonsynonymous SNV DGAT1:NM_012079:exon17:c.G1432A:p.V478M Score=531;Name=lod=191 0 0.996666 C 1.0 D 0.854 D 0.999999 D 0.998439 D 3.73 202 38 0.158 212 0 0.000 1.04771714055090447e-11 0.421 --- 212,178,34,0.160 187,187,0,0.000 9.763 8.454 chr8 145662208 145662208 A C exonic TONSL nonsynonymous SNV TONSL:NM_013432:exon15:c.T1822G:p.C608G Score=551;Name=lod=232 0.02 0.995945 C 0.83 T 1.0 D 1.0 D 0.852022 D 4.18 288 39 0.119 257 0 0.000 5.56801598486778281e-11 0.487 --- 281,249,32,0.114 239,238,1,0.004 7.663 7.375 chr8 145699663 145699663 C T exonic FOXH1 synonymous SNV FOXH1:NM_003923:exon3:c.G1056A:p.A352A 0.000312 rs142762918 133 42 0.240 163 0 0.000 6.80172790090138525e-14 0.619 --- 153,115,38,0.248 137,137,0,0.000 11.468 60 chr8 145725872 145725872 G A exonic PPP1R16A synonymous SNV PPP1R16A:NM_032902:exon6:c.G708A:p.L236L Score=425;Name=lod=71 213 31 0.127 213 0 0.000 2.01521169848237859e-09 0.452 --- 222,190,30,0.136 199,199,0,0.000 8.815 8.933 chr8 145755855 145755855 C A exonic ARHGAP39 nonsynonymous SNV ARHGAP39:NM_025251:exon13:c.G3296T:p.R1099L Score=536;Name=lod=202 0 0.997579 C 1.0 D 0.788827 NA 1.0 D 0.999906 D 4.54 179 20 0.101 201 0 0.000 5.20818150044097026e-07 0.600 --- 170,153,17,0.100 172,172,0,0.000 5.345 8.537 chr8 145773233 145773233 C T exonic ARHGAP39 nonsynonymous SNV ARHGAP39:NM_025251:exon6:c.G1237A:p.G413S 0.27 0.998433 C 0.68 T 0.0090 B 0.999951 D 0.038082 N 4.94 274 36 0.116 252 0 0.000 2.7657116031605216e-10 0.444 --- 255,223,32,0.125 220,220,0,0.000 8.956 7.072 chr9 371523 371523 A G exonic DOCK8 nonsynonymous SNV DOCK8:NM_001190458:exon16:c.A1760G:p.Q587R,DOCK8:NM_001193536:exon16:c.A1760G:p.Q587R,DOCK8:NM_203447:exon17:c.A1964G:p.Q655R Score=597;Name=lod=356 0.01 0.998857 C 0.99 D 0.99 D 1.0 D 0.999948 D 5.37 133 26 0.164 174 0 0.000 1.40770143318336072e-09 0.538 --- 130,111,19,0.146 135,135,0,0.000 6.190 9.46 chr9 916906 916906 C T exonic DMRT1 synonymous SNV DMRT1:NM_021951:exon4:c.C966T:p.S322S 95 23 0.195 126 0 0.000 1.6271621159802071e-08 0.348 --- 99,81,18,0.182 106,106,0,0.000 6.071 9.453 chr9 5563177 5563177 C T exonic PDCD1LG2 nonsynonymous SNV PDCD1LG2:NM_025239:exon6:c.C782T:p.P261L 0.03 0.841156 N 0.92 T 0.0 B 0.605184 N 0.004676 N 1.27 76 13 0.146 82 0 0.000 0.000172230175194637539 0.462 --- 77,64,13,0.169 67,67,0,0.000 3.702 7.204 chr9 6434114 6434114 G A exonic UHRF2 synonymous SNV UHRF2:NM_152896:exon3:c.G585A:p.T195T Score=741;Name=lod=1363 142 27 0.160 179 0 0.000 1.06335135630185706e-09 0.519 --- 138,116,22,0.159 144,144,0,0.000 7.231 9.35 chr9 8500929 8500929 T C exonic PTPRD synonymous SNV PTPRD:NM_002839:exon24:c.A1953G:p.A651A Score=687;Name=lod=827 152 20 0.116 160 0 0.000 1.33973560458165634e-06 0.350 --- 136,116,18,0.134 139,138,0,0.000 5.804 10.24 chr9 14851602 14851602 C T exonic FREM1 nonsynonymous SNV FREM1:NM_144966:exon7:c.G832A:p.E278K Score=437;Name=lod=80 0 85 10 0.105 106 0 0.000 0.000427695836880595414 0.300 --- 80,70,9,0.114 86,86,0,0.000 2.988 7.464 chr9 19332164 19332164 T C exonic DENND4C synonymous SNV DENND4C:NM_017925:exon17:c.T2442C:p.D814D Score=525;Name=lod=182 81 27 0.250 114 0 0.000 5.2855356974628063e-10 0.185 --- 97,71,26,0.268 100,100,0,0.000 8.853 13.158 chr9 22447318 22447318 G A exonic DMRTA1 nonsynonymous SNV DMRTA1:NM_022160:exon1:c.G254A:p.G85D 0.01 0.937774 N 1.0 D 0.31 P 0.941418 N 0.840598 D 0.273 301 63 0.173 416 0 0.000 6.14887942602249978e-23 0.524 --- 313,259,54,0.173 347,347,0,0.000 18.637 12.292 chr9 27158131 27158131 C T exonic TEK nonsynonymous SNV TEK:NM_000459:exon2:c.C355T:p.R119C Score=511;Name=lod=159 0.01 0.98014 C 0.95 T 0.786 P 0.992731 N 0.47334 N 4.07 139 27 0.163 192 0 0.000 2.83996380717760919e-10 0.370 --- 143,119,24,0.168 161,161,0,0.000 8.344 15.955 chr9 27192559 27192559 G A exonic TEK nonsynonymous SNV TEK:NM_000459:exon11:c.G1562A:p.R521H Score=507;Name=lod=154 0 0.990047 C 0.99 D 1.0 D 0.999867 D 0.913197 D 3.89 120 32 0.211 167 0 0.000 7.40761229408863678e-12 0.625 --- 123,97,26,0.211 132,132,0,0.000 8.896 60 chr9 32541931 32541931 G A exonic TOPORS synonymous SNV TOPORS:NM_001195622:exon2:c.C2397T:p.S799S,TOPORS:NM_005802:exon3:c.C2592T:p.S864S Score=585;Name=lod=317 183 22 0.107 201 0 0.000 2.67962512018337321e-07 0.500 --- 176,159,16,0.091 176,175,0,0.000 4.671 11.033 chr9 33466087 33466087 C T exonic NOL6 synonymous SNV NOL6:NM_022917:exon18:c.G2346A:p.T782T ID=COSM246065;OCCURENCE=1(prostate) 171 37 0.178 208 0 0.000 1.25473273731894686e-12 0.676 --- 172,143,29,0.169 174,173,0,0.000 9.328 11.417 chr9 33796650 33796650 C T exonic PRSS3 nonsynonymous SNV PRSS3:NM_001197098:exon2:c.C29T:p.P10L,PRSS3:NM_002771:exon2:c.C50T:p.P17L,PRSS3:NM_007343:exon2:c.C221T:p.P74L,PRSS3:NM_001197097:exon3:c.C92T:p.P31L Score=346;Name=lod=34 Score=0.954248;Name=chr9:33612452 0 0.987527 C 1.0 D 0.085 B 1.0 D 0.997577 D 2.74 156 23 0.128 173 0 0.000 1.19949437230389025e-07 0.913 --- 156,134,22,0.141 150,150,0,0.000 6.632 9.664 chr9 33917192 33917192 C T exonic UBE2R2 nonsynonymous SNV UBE2R2:NM_017811:exon5:c.C674T:p.A225V Score=647;Name=lod=570 0.28 0.987148 C 0.72 T 0.614424 NA 0.999998 D 0.924723 D 4.66 185 28 0.131 228 0 0.000 5.30125472777701363e-10 0.393 --- 180,155,24,0.134 187,187,0,0.000 7.821 11.243 chr9 34256888 34256888 A T exonic KIF24 nonsynonymous SNV KIF24:NM_194313:exon11:c.T2717A:p.L906H 0.02 145 22 0.132 158 0 0.000 2.69104476896967673e-07 0.636 --- 143,124,19,0.133 128,128,0,0.000 5.495 8.421 chr9 34371137 34371137 G A exonic KIAA1161 unknown UNKNOWN Score=463;Name=lod=102 0.19 251 47 0.158 290 0 0.000 2.39804337934684521e-15 0.532 --- 268,224,44,0.164 255,254,0,0.000 13.521 11.408 chr9 34637262 34637262 A G exonic SIGMAR1 nonsynonymous SNV SIGMAR1:NM_005866:exon2:c.T307C:p.Y103H,SIGMAR1:NM_147157:exon2:c.T307C:p.Y103H Score=683;Name=lod=792 0 0.998663 C 1.0 D 0.685 P 1.0 D 0.957654 D 4.69 240 34 0.124 242 0 0.000 2.41792780358823263e-10 0.588 --- 240,207,33,0.138 206,206,0,0.000 9.276 10.162 chr9 34724913 34724913 G A exonic FAM205A nonsynonymous SNV FAM205A:NM_001141917:exon4:c.C2324T:p.T775I Score=0.912588;Name=chr9:34832014 88 10 0.102 115 0 0.000 0.000327654967373505942 0.800 --- 92,83,9,0.098 103,103,0,0.000 3.030 7.612 chr9 35062114 35062114 G A exonic VCP nonsynonymous SNV VCP:NM_007126:exon9:c.C967T:p.R323C Score=526;Name=lod=183 0 0.994988 C 1.0 D 0.981 D 1.0 D 1.0 D 4.6 269 71 0.209 337 0 0.000 1.48084374544751663e-23 0.563 --- 285,224,61,0.214 277,276,0,0.000 19.435 60 chr9 35092675 35092675 G T exonic PIGO synonymous SNV PIGO:NM_032634:exon7:c.C1209A:p.A403A,PIGO:NM_152850:exon7:c.C1209A:p.A403A,PIGO:NM_001201484:exon8:c.C1209A:p.A403A Score=452;Name=lod=92 217 51 0.190 255 0 0.000 1.26299567912571203e-16 0.294 --- 226,180,46,0.204 212,210,1,0.005 12.535 14.062 chr9 35547473 35547473 G A exonic RUSC2 nonsynonymous SNV RUSC2:NM_001135999:exon2:c.G955A:p.A319T,RUSC2:NM_014806:exon2:c.G955A:p.A319T Score=589;Name=lod=330 ID=COSM422381;OCCURENCE=1(urinary_tract) 0.13 0.988252 C 0.99 D 0.0 B 0.999893 N 0.680683 D 2.81 159 33 0.172 204 1 0.005 2.02036422491289389e-10 0.667 1.000 172,144,27,0.158 182,180,1,0.006 7.695 10.027 chr9 35706836 35706836 G A exonic TLN1 nonsynonymous SNV TLN1:NM_006289:exon38:c.C5017T:p.R1673W Score=629;Name=lod=479 0 0.99955 C 0.99 D 1.0 D 1.0 D 0.999984 D 5.12 139 26 0.158 191 0 0.000 6.60583872056458212e-10 0.385 --- 139,117,22,0.158 149,149,0,0.000 7.365 8.905 chr9 35751713 35751713 A G exonic RGP1 nonsynonymous SNV RGP1:NM_001080496:exon7:c.A724G:p.T242A Score=524;Name=lod=179 0.01 85 26 0.234 142 0 0.000 7.81521684978350797e-11 0.462 --- 95,70,24,0.255 117,117,0,0.000 9.234 12.594 chr9 35810505 35810505 C A exonic SPAG8 nonsynonymous SNV SPAG8:NM_001039592:exon5:c.G1131T:p.E377D,SPAG8:NM_172312:exon5:c.G1131T:p.E377D 0.03 0.907961 N 1.0 D 0.956 D 0.99952 D 0.007133 N 1.63 117 29 0.199 136 0 0.000 1.26821652549178075e-09 0.483 --- 130,104,26,0.200 118,118,0,0.000 7.843 7.166 chr9 39133021 39133021 G A exonic CNTNAP3 nonsynonymous SNV CNTNAP3:NM_033655:exon13:c.C1988T:p.A663V Score=0.989467;Name=chr9:65584333 0.1 0.861971 N 0.91 T 0.0 B 0.796305 NA 0.00625 N 0.895 189 59 0.238 298 1 0.003 2.79684981288644372e-21 0.492 0.000 200,152,48,0.240 240,239,1,0.004 16.468 5.993 chr9 71849385 71849385 C T exonic TJP2 nonsynonymous SNV TJP2:NM_001170415:exon12:c.C1714T:p.R572W,TJP2:NM_001170416:exon12:c.C1795T:p.R599W,TJP2:NM_001170630:exon12:c.C1702T:p.R568W,TJP2:NM_004817:exon12:c.C1702T:p.R568W,TJP2:NM_201629:exon12:c.C1702T:p.R568W,TJP2:NM_001170414:exon13:c.C1633T:p.R545W Score=557;Name=lod=245 0 0.999052 C 1.0 D 1.0 D 1.0 D 0.999998 D 4.41 45 15 0.250 74 0 0.000 1.94572189997786751e-06 0.733 --- 56,43,13,0.232 75,74,0,0.000 5.141 10.498 chr9 72131476 72131476 C A exonic APBA1 nonsynonymous SNV APBA1:NM_001163:exon2:c.G651T:p.E217D Score=601;Name=lod=371 0.15 0.978573 C 1.0 D 0.625 P 0.999999 D 0.816746 D 2.63 304 39 0.114 330 0 0.000 1.49946360853418761e-12 0.513 --- 294,260,34,0.116 280,280,0,0.000 10.240 7.738 chr9 72132005 72132005 G T exonic APBA1 nonsynonymous SNV APBA1:NM_001163:exon2:c.C122A:p.P41Q 0.64 0.028574 N 0.97 D 0.0080 B 0.213324 N 0.016606 N -3.75 211 53 0.201 276 0 0.000 1.73785536485382919e-18 0.377 --- 224,181,43,0.192 236,236,0,0.000 14.431 11.886 chr9 72929666 72929666 C T exonic SMC5 synonymous SNV SMC5:NM_015110:exon12:c.C1587T:p.D529D Score=527;Name=lod=184 49 6 0.109 66 0 0.000 0.00754286625122393679 0.833 --- 47,42,5,0.106 52,52,0,0.000 1.669 3.628 chr9 72965054 72965054 C T exonic SMC5 stopgain SMC5:NM_015110:exon23:c.C2914T:p.R972X Score=664;Name=lod=663 ID=COSM1109784;OCCURENCE=2(large_intestine) 0.0082 1 0.987059 C 0.902834 NA 0.733432 NA 1.0 D 1.0 A 3.87 89 15 0.144 104 0 0.000 3.54566078549593449e-05 0.800 --- 94,81,13,0.138 98,98,0,0.000 4.229 5.863 chr9 75406945 75406945 A G exonic TMC1 synonymous SNV TMC1:NM_138691:exon16:c.A1368G:p.V456V Score=635;Name=lod=508 117 14 0.107 139 0 0.000 2.74766507688180643e-05 0.429 --- 104,94,10,0.096 120,120,0,0.000 3.438 7.641 chr9 79118429 79118429 C T exonic GCNT1 nonsynonymous SNV GCNT1:NM_001097636:exon2:c.C1132T:p.R378C,GCNT1:NM_001097633:exon3:c.C1132T:p.R378C,GCNT1:NM_001097634:exon3:c.C1132T:p.R378C,GCNT1:NM_001097635:exon3:c.C1132T:p.R378C,GCNT1:NM_001490:exon4:c.C1132T:p.R378C Score=321;Name=lod=27 0 0.999392 C 1.0 D 1.0 D 1.0 D 0.992851 D 5.82 111 25 0.184 152 0 0.000 1.98658831600583684e-09 0.480 --- 121,102,19,0.157 131,131,0,0.000 6.399 14.875 chr9 79867216 79867216 T C exonic VPS13A nonsynonymous SNV VPS13A:NM_001018037:exon22:c.T2236C:p.F746L,VPS13A:NM_001018038:exon22:c.T2236C:p.F746L,VPS13A:NM_015186:exon22:c.T2236C:p.F746L,VPS13A:NM_033305:exon22:c.T2236C:p.F746L Score=556;Name=lod=243 1 0.874983 N 0.0 T 0.0040 B 0.918432 N 0.323203 NA -0.612 102 12 0.105 119 0 0.000 0.00013782881410051707 0.583 --- 87,77,10,0.115 92,92,0,0.000 3.255 10.005 chr9 79966298 79966298 C T exonic VPS13A nonsynonymous SNV VPS13A:NM_001018037:exon52:c.C7238T:p.P2413L,VPS13A:NM_001018038:exon53:c.C7355T:p.P2452L,VPS13A:NM_015186:exon53:c.C7355T:p.P2452L,VPS13A:NM_033305:exon53:c.C7355T:p.P2452L Score=554;Name=lod=238 0 0.998735 C 0.99 D 0.999 D 0.999995 D 0.963284 D 5.14 109 50 0.314 174 0 0.000 7.42774852979521652e-19 0.620 --- 123,87,36,0.293 135,135,0,0.000 12.945 12.647 chr9 86616936 86616936 C T exonic RMI1 synonymous SNV RMI1:NM_024945:exon3:c.C1035T:p.A345A 103 26 0.202 135 0 0.000 1.95895511497768974e-09 0.423 --- 116,96,20,0.172 119,119,0,0.000 6.526 11.842 chr9 88592298 88592298 A G exonic NAA35 synonymous SNV NAA35:NM_024635:exon10:c.A699G:p.V233V Score=586;Name=lod=321 42 13 0.236 101 0 0.000 4.66201412169401911e-07 0.538 --- 46,34,12,0.261 71,71,0,0.000 5.294 8.051 chr9 90321590 90321590 G C exonic DAPK1 nonsynonymous SNV DAPK1:NM_004938:exon26:c.G3604C:p.E1202Q Score=378;Name=lod=46 0.15 0.999505 C 0.9 T 0.832 P 0.999965 D 0.879667 D 4.52 93 11 0.106 113 0 0.000 0.000229289890466431766 0.273 --- 86,77,9,0.105 102,102,0,0.000 3.161 8.458 chr9 90321827 90321827 A G exonic DAPK1 nonsynonymous SNV DAPK1:NM_004938:exon26:c.A3841G:p.S1281G Score=549;Name=lod=227 0.15 0.998896 C 0.95 T 0.82 P 0.999997 D 0.998636 D 5.41 124 19 0.133 157 0 0.000 3.94078699730764416e-07 0.526 --- 120,104,16,0.133 137,137,0,0.000 5.539 14.025 chr9 90744986 90744986 C T exonic SPATA31C2 nonsynonymous SNV SPATA31C2:NM_001166137:exon4:c.G2966A:p.R989H Score=0.991167;Name=chr9:90527685 377 88 0.189 458 0 0.000 8.41182072421975647e-29 0.420 --- 383,312,70,0.183 376,375,0,0.000 22.198 4.528 chr9 91606485 91606485 T A exonic C9orf47 nonsynonymous SNV C9orf47:NM_001001938:exon2:c.T347A:p.V116D,C9orf47:NM_001142413:exon2:c.T290A:p.V97D 0 0.208435 N 1.0 D 0.048 B 0.617076 NA 0.0114 N 0.144 163 30 0.155 231 0 0.000 1.47601695459629292e-11 0.567 --- 157,133,24,0.153 190,190,0,0.000 8.718 12.049 chr9 95155368 95155368 G A exonic OGN nonsynonymous SNV OGN:NM_014057:exon4:c.C427T:p.P143S,OGN:NM_033014:exon4:c.C427T:p.P143S Score=610;Name=lod=402 0.1 0.999193 C 0.54 T 0.569 P 0.99996 D 0.673769 D 4.34 61 19 0.237 89 0 0.000 1.88704986106222721e-07 0.579 --- 72,56,16,0.222 77,77,0,0.000 5.473 6.471 chr9 95400380 95400380 C T exonic IPPK synonymous SNV IPPK:NM_022755:exon9:c.G819A:p.S273S 181 32 0.150 235 0 0.000 1.24320600112116617e-11 0.656 --- 185,156,28,0.152 197,197,0,0.000 9.350 10.605 chr9 95477685 95477685 G A exonic BICD2 synonymous SNV BICD2:NM_001003800:exon7:c.C2319T:p.D773D,BICD2:NM_015250:exon7:c.C2319T:p.D773D Score=489;Name=lod=130 0.000077 237 40 0.144 326 0 0.000 5.96167879146673356e-15 0.375 --- 241,204,36,0.150 279,279,0,0.000 12.720 11.28 chr9 96055270 96055270 C T exonic WNK2 synonymous SNV WNK2:NM_006648:exon22:c.C5523T:p.T1841T 308 54 0.149 329 0 0.000 1.13668329148233203e-16 0.481 --- 310,264,46,0.148 271,271,0,0.000 13.249 6.092 chr9 96320909 96320909 C T exonic FAM120A synonymous SNV FAM120A:NM_014612:exon15:c.C2715T:p.G905G Score=620;Name=lod=442 154 19 0.110 170 0 0.000 2.28447751455528461e-06 0.526 --- 133,118,15,0.113 133,132,0,0.000 4.396 7.353 chr9 96428051 96428051 G A exonic PHF2 nonsynonymous SNV PHF2:NM_005392:exon15:c.G2021A:p.R674Q Score=449;Name=lod=89 0.06 0.999063 C 0.92 T 0.564 P 1.0 D 0.67585 NA 4.56 145 28 0.162 189 0 0.000 3.04269823384982015e-10 0.786 --- 141,115,26,0.184 157,157,0,0.000 9.030 13.909 chr9 96438063 96438063 T A exonic PHF2 nonsynonymous SNV PHF2:NM_005392:exon20:c.T2824A:p.S942T Score=495;Name=lod=137 0.01 0.996428 C 0.93 T 0.682574 NA 0.999918 D 0.704861 NA 4.69 64 14 0.179 96 0 0.000 6.54859427394449238e-06 0.500 --- 62,51,11,0.177 73,73,0,0.000 3.945 11.114 chr9 98011540 98011540 A G exonic FANCC nonsynonymous SNV FANCC:NM_000136:exon2:c.T34C:p.Y12H,FANCC:NM_001243743:exon2:c.T34C:p.Y12H,FANCC:NM_001243744:exon2:c.T34C:p.Y12H 0.14 0.999107 C 0.63 T 0.277 P 0.919661 N 0.063015 N 5.08 100 24 0.194 129 0 0.000 1.05229092887265682e-08 0.375 --- 98,80,18,0.184 103,103,0,0.000 5.997 15.955 chr9 100365017 100365017 A G exonic TSTD2 nonsynonymous SNV TSTD2:NM_139246:exon10:c.T1285C:p.Y429H Score=495;Name=lod=137 0 0.999105 C 1.0 D 0.989 D 1.0 D 0.789103 NA 5.61 163 19 0.104 186 0 0.000 9.39512804127670405e-07 0.368 --- 155,139,15,0.097 149,149,0,0.000 4.359 8.87 chr9 100417227 100417227 G T splicing NCBP1 NM_002486:exon12:c.1235+1G>T Score=441;Name=lod=83 102 12 0.105 107 0 0.000 0.000382673552667513008 0.500 --- 89,80,8,0.091 90,89,1,0.011 1.756 8.281 chr9 100459510 100459510 G A exonic XPA nonsynonymous SNV XPA:NM_000380:exon1:c.C65T:p.A22V Score=361;Name=lod=39 0.1 0.999302 C 0.78 T 0.588632 NA 0.999997 D 0.6578 NA 4.79 268 36 0.118 338 0 0.000 6.44454694807550653e-13 0.389 --- 244,218,26,0.107 268,268,0,0.000 8.688 5.915 chr9 100617040 100617040 G A exonic FOXE1 nonsynonymous SNV FOXE1:NM_004473:exon1:c.G844A:p.A282T Score=449;Name=lod=89 0.35 0.162544 N 0.63 T 0.012 B 0.383189 N 0.077162 N -4.96 181 38 0.174 206 0 0.000 2.23759962644763467e-12 0.553 --- 203,165,38,0.187 189,189,0,0.000 11.640 6.064 chr9 103092419 103092419 A G exonic TEX10 nonsynonymous SNV TEX10:NM_001161584:exon6:c.T1292C:p.I431T,TEX10:NM_017746:exon6:c.T1283C:p.I428T Score=675;Name=lod=739 0.01 0.998561 C 0.81 T 0.0 B 0.999983 D 9.75E-4 N 5.13 80 9 0.101 89 0 0.000 0.00315851350724219189 0.111 --- 79,70,9,0.114 78,78,0,0.000 2.513 9.331 chr9 104324646 104324646 G A exonic RNF20 nonsynonymous SNV RNF20:NM_019592:exon20:c.G2870A:p.C957Y Score=647;Name=lod=570 0 0.999825 C 1.0 D 0.999 D 1.0 D 0.999994 D 5.82 115 34 0.228 166 0 0.000 9.43057100526065929e-13 0.471 --- 127,99,28,0.220 125,125,0,0.000 8.848 60 chr9 105763869 105763869 A G exonic CYLC2 synonymous SNV CYLC2:NM_001340:exon2:c.A27G:p.V9V 43 6 0.122 67 0 0.000 0.00471278981790842768 0.500 --- 42,38,4,0.095 53,53,0,0.000 1.454 4.045 chr9 107560841 107560841 A G exonic ABCA1 nonsynonymous SNV ABCA1:NM_005502:exon37:c.T4982C:p.V1661A Score=559;Name=lod=249 0.01 0.998988 C 0.97 D 0.991 D 0.999986 D 0.981294 D 5.48 146 21 0.126 161 0 0.000 5.20399063582570272e-07 0.429 --- 145,125,19,0.132 130,130,0,0.000 5.519 7.555 chr9 107584786 107584786 G A exonic ABCA1 nonsynonymous SNV ABCA1:NM_005502:exon19:c.C2819T:p.T940M Score=521;Name=lod=175 0 0.999709 C 1.0 D 1.0 D 1.0 D 0.999607 D 5.44 126 29 0.187 205 0 0.000 4.737929412455175e-12 0.552 --- 129,103,26,0.202 172,171,0,0.000 10.220 5.034 chr9 109686673 109686673 G T exonic ZNF462 nonsynonymous SNV ZNF462:NM_021224:exon3:c.G480T:p.K160N Score=667;Name=lod=688 0 0.992689 C 1.0 D 0.787837 NA 1.0 D 0.998134 D 4.47 147 34 0.188 202 0 0.000 1.41277931392331608e-12 0.559 --- 161,133,28,0.174 178,178,0,0.000 9.640 60 chr9 112705303 112705303 A G exonic PALM2 synonymous SNV PALM2:NM_001037293:exon7:c.A738G:p.V246V,PALM2:NM_053016:exon7:c.A834G:p.V278V Score=565;Name=lod=263 183 22 0.107 242 0 0.000 1.87283528808782413e-08 0.455 --- 173,151,22,0.127 201,201,0,0.000 7.698 10.123 chr9 112705679 112705679 C T exonic PALM2 nonsynonymous SNV PALM2:NM_001037293:exon7:c.C1114T:p.R372C,PALM2:NM_053016:exon7:c.C1210T:p.R404C Score=696;Name=lod=901 0 0.999038 C 1.0 D 0.633304 NA 0.916804 NA 0.382908 N 5.4 219 38 0.148 234 0 0.000 5.16761950457925958e-12 0.421 --- 216,184,32,0.148 203,203,0,0.000 9.683 12.561 chr9 112899432 112899432 C T exonic AKAP2,PALM2-AKAP2 synonymous SNV AKAP2:NM_001004065:exon2:c.C1182T:p.R394R,AKAP2:NM_001136562:exon2:c.C915T:p.R305R,AKAP2:NM_001198656:exon2:c.C1182T:p.R394R,PALM2-AKAP2:NM_007203:exon8:c.C1608T:p.R536R,PALM2-AKAP2:NM_147150:exon8:c.C1608T:p.R536R 394 86 0.179 610 0 0.000 2.1931076396204229e-33 0.453 --- 435,354,78,0.181 534,534,0,0.000 29.090 10.912 chr9 113459656 113459656 G A exonic MUSK nonsynonymous SNV MUSK:NM_001166280:exon5:c.G538A:p.V180I,MUSK:NM_001166281:exon5:c.G538A:p.V180I,MUSK:NM_005592:exon5:c.G538A:p.V180I Score=620;Name=lod=443 0.09 117 29 0.199 143 0 0.000 8.24112817322162518e-10 0.552 --- 124,98,25,0.203 113,113,0,0.000 7.602 60 chr9 114480476 114480476 C T exonic C9orf84 nonsynonymous SNV C9orf84:NM_001080551:exon12:c.G1915A:p.D639N,C9orf84:NM_173521:exon14:c.G2032A:p.D678N Score=425;Name=lod=71 0.16 0.998262 C 0.6 T 0.96 D 0.999958 D 0.045827 N 3.68 81 12 0.129 100 0 0.000 0.000105901833114848398 0.417 --- 76,67,8,0.107 75,75,0,0.000 2.193 8.582 chr9 114691839 114691839 A C exonic UGCG nonsynonymous SNV UGCG:NM_003358:exon6:c.A618C:p.K206N Score=728;Name=lod=1217 1 0.177816 N 0.43 T 0.0010 B 1.0 D 0.999606 D 0.154 142 21 0.129 184 0 0.000 6.20314682492432952e-08 0.476 --- 144,125,18,0.126 146,146,0,0.000 5.750 11.589 chr9 114905855 114905855 C T exonic SUSD1 nonsynonymous SNV SUSD1:NM_022486:exon4:c.G422A:p.C141Y Score=415;Name=lod=65 0 0.999262 C 1.0 D 1.0 D 0.999901 D 0.996166 D 5.64 155 24 0.134 200 0 0.000 6.3549841736067484e-09 0.375 --- 142,121,21,0.148 145,145,0,0.000 6.767 11.25 chr9 115038199 115038199 G A exonic PTBP3 synonymous SNV PTBP3:NM_001163788:exon3:c.C129T:p.T43T,PTBP3:NM_001244897:exon3:c.C129T:p.T43T,PTBP3:NM_001244898:exon3:c.C231T:p.T77T,PTBP3:NM_001163790:exon4:c.C222T:p.T74T,PTBP3:NM_005156:exon4:c.C213T:p.T71T Score=679;Name=lod=769 0.001538 0.0018 rs35385018 113 33 0.226 148 0 0.000 1.19244147523175845e-11 0.515 --- 118,94,24,0.203 116,116,0,0.000 7.484 60 chr9 116346593 116346593 T C exonic RGS3 synonymous SNV RGS3:NM_001276260:exon2:c.T864C:p.G288G,RGS3:NM_130795:exon11:c.T2058C:p.G686G,RGS3:NM_144488:exon21:c.T2901C:p.G967G 209 56 0.211 260 0 0.000 1.22366284374917598e-18 0.500 --- 230,181,49,0.213 228,228,0,0.000 15.687 11.453 chr9 117803244 117803244 G A exonic TNC nonsynonymous SNV TNC:NM_002160:exon19:c.C5368T:p.P1790S Score=304;Name=lod=23 0.05 0.999758 C 0.93 T 0.999 D 1.0 D 0.626138 D 5.58 178 25 0.123 214 0 0.000 6.81447107918997354e-09 0.440 --- 166,144,22,0.133 185,182,0,0.000 7.410 5.317 chr9 119625964 119625964 C T exonic ASTN2 synonymous SNV ASTN2:NM_014010:exon10:c.G1785A:p.L595L Score=541;Name=lod=211 157 31 0.165 187 0 0.000 2.4201021534519929e-10 0.419 --- 159,132,27,0.170 151,151,0,0.000 8.254 10.498 chr9 122075586 122075586 G A exonic DBC1 synonymous SNV DBC1:NM_014618:exon2:c.C48T:p.G16G Score=787;Name=lod=2105 136 30 0.181 172 0 0.000 1.25745079441301762e-10 0.533 --- 141,116,25,0.177 142,142,0,0.000 8.073 7.527 chr9 123367841 123367841 A G exonic MEGF9 nonsynonymous SNV MEGF9:NM_001080497:exon6:c.T1436C:p.V479A Score=642;Name=lod=542 0.02 130 15 0.103 165 0 0.000 7.48193226514959594e-06 0.400 --- 125,110,14,0.113 134,134,0,0.000 4.630 10.28 chr9 123476367 123476367 G T exonic MEGF9 synonymous SNV MEGF9:NM_001080497:exon1:c.C270A:p.P90P 243 62 0.203 289 0 0.000 3.98606544458412761e-20 0.435 --- 274,220,54,0.197 247,247,0,0.000 16.207 11.812 chr9 123779954 123779954 T C exonic C5 synonymous SNV C5:NM_001735:exon13:c.A1683G:p.L561L Score=541;Name=lod=211 85 10 0.105 69 0 0.000 0.00539894513460461819 0.300 --- 79,70,9,0.114 57,57,0,0.000 1.986 8.507 chr9 125281556 125281556 T C exonic OR1J4 nonsynonymous SNV OR1J4:NM_001004452:exon1:c.T137C:p.I46T Score=376;Name=lod=45 0 0.99831 C 1.0 D 0.818 P 0.751245 U 0.615125 NA 4.97 104 18 0.148 160 1 0.006 1.46632764239359283e-06 0.667 1.000 103,87,16,0.155 136,135,1,0.007 5.128 5.058 chr9 125486555 125486555 T A exonic OR1L4 nonsynonymous SNV OR1L4:NM_001005235:exon1:c.T287A:p.V96E 0.07 0.995091 C 0.63 T 0.192 P 0.931078 N 0.006207 N 3.83 164 38 0.188 210 0 0.000 2.43848523970618621e-13 0.447 --- 185,152,33,0.178 192,192,0,0.000 10.895 60 chr9 125797188 125797188 G A exonic GPR21 nonsynonymous SNV GPR21:NM_005294:exon2:c.G343A:p.V115I Score=654;Name=lod=607 0.000077 rs34751912 0.08 0.990001 C 0.86 T 0.0010 B 0.999818 N 1.24E-4 N 3.87 74 15 0.169 98 1 0.010 8.42475363333480931e-05 0.467 1.000 80,68,12,0.150 80,79,1,0.013 2.630 11.094 chr9 126129485 126129485 C T exonic CRB2 synonymous SNV CRB2:NM_173689:exon5:c.C789T:p.D263D Score=449;Name=lod=89 135 33 0.196 202 0 0.000 7.25601273509792482e-13 0.667 --- 144,115,29,0.201 162,162,0,0.000 10.213 9.152 chr9 126137589 126137589 T C exonic CRB2 synonymous SNV CRB2:NM_173689:exon12:c.T3600C:p.N1200N 175 27 0.134 179 0 0.000 1.55604554604800505e-08 0.444 --- 170,145,24,0.142 153,153,0,0.000 7.050 8.481 chr9 126144871 126144871 C T exonic DENND1A nonsynonymous SNV DENND1A:NM_020946:exon22:c.G1870A:p.G624R 0.07 0.965962 C 1.0 D 0.024 B 0.997591 N 0.209883 N 2.25 157 29 0.156 177 0 0.000 1.44451732347395351e-09 0.241 --- 147,124,23,0.156 154,154,0,0.000 7.573 11.623 chr9 127566489 127566489 G A exonic OLFML2A nonsynonymous SNV OLFML2A:NM_182487:exon6:c.G1036A:p.E346K 0.000077 0.08 0.999319 C 1.0 D 0.028 B 0.658688 N 0.142751 N 4.79 116 15 0.115 140 0 0.000 1.18626130625524483e-05 0.800 --- 117,104,13,0.111 114,114,0,0.000 3.761 4.541 chr9 128305375 128305375 C A exonic MAPKAP1 nonsynonymous SNV MAPKAP1:NM_001006621:exon5:c.G345T:p.K115N,MAPKAP1:NM_001006620:exon6:c.G345T:p.K115N,MAPKAP1:NM_001006617:exon7:c.G921T:p.K307N,MAPKAP1:NM_001006618:exon7:c.G921T:p.K307N,MAPKAP1:NM_001006619:exon7:c.G921T:p.K307N,MAPKAP1:NM_024117:exon7:c.G921T:p.K307N Score=675;Name=lod=736 0 0.835574 N 0.99 D 0.906 D 1.0 D 0.999902 D 2.53 55 8 0.127 92 0 0.000 0.000563186951810759927 0.625 --- 50,44,6,0.120 77,77,0,0.000 2.512 10.114 chr9 130206472 130206472 G A exonic ZNF79 nonsynonymous SNV ZNF79:NM_007135:exon5:c.G493A:p.V165M 0.001538 rs139916995 0.13 0.016671 N 0.8 T 0.0010 B 0.570066 NA 0.012114 N -6.2 154 43 0.218 200 0 0.000 6.13081236778533294e-15 0.628 --- 165,128,37,0.224 175,175,0,0.000 12.634 60 chr9 130551733 130551733 C T exonic CDK9 nonsynonymous SNV CDK9:NM_001261:exon7:c.C1030T:p.R344W Score=568;Name=lod=271 0 0.998741 C 1.0 D 0.992 D 1.0 D 1.0 D 5.15 151 48 0.241 190 0 0.000 4.88919717156118523e-16 0.583 --- 167,126,41,0.246 156,156,0,0.000 12.906 60 chr9 130634104 130634104 G A exonic AK1 nonsynonymous SNV AK1:NM_000476:exon5:c.C322T:p.R108W Score=531;Name=lod=191 0 0.190095 N 0.99 D 0.91 D 0.999996 D 0.956634 D -0.325 67 18 0.212 89 0 0.000 8.98120059574791816e-07 0.500 --- 73,57,16,0.219 72,72,0,0.000 4.916 10.736 chr9 130670792 130670792 T A exonic ST6GALNAC4 nonsynonymous SNV ST6GALNAC4:NM_175040:exon5:c.A536T:p.Y179F,ST6GALNAC4:NM_175039:exon6:c.A788T:p.Y263F Score=568;Name=lod=272 0 0.99711 C 1.0 D 0.999 D 1.0 D 0.979777 D 4.93 178 20 0.101 195 0 0.000 1.16064474512389412e-06 0.550 --- 168,154,14,0.083 168,166,2,0.012 2.470 7.009 chr9 130674788 130674788 C T exonic ST6GALNAC4 nonsynonymous SNV ST6GALNAC4:NM_175040:exon3:c.G118A:p.V40I,ST6GALNAC4:NM_175039:exon4:c.G370A:p.V124I Score=313;Name=lod=25 0.73 0.077085 N 0.04 T 0.01 B 0.998339 N 0.006558 N 0.248 278 68 0.197 315 1 0.003 8.19575600963590502e-20 0.485 1.000 299,239,60,0.201 268,267,1,0.004 16.246 60 chr9 130868021 130868021 G A exonic SLC25A25 nonsynonymous SNV SLC25A25:NM_001006641:exon6:c.G761A:p.R254H,SLC25A25:NM_001006642:exon6:c.G719A:p.R240H,SLC25A25:NM_052901:exon6:c.G659A:p.R220H,SLC25A25:NM_001265614:exon7:c.G755A:p.R252H Score=536;Name=lod=201 0.000077 0.01 0.999704 C 0.95 T 0.489 P 0.999981 D 0.999997 D 5.42 173 34 0.164 191 1 0.005 9.90548590569717825e-10 0.618 1.000 164,135,29,0.177 153,152,1,0.007 7.607 6.027 chr9 130941361 130941361 C T exonic CIZ1 synonymous SNV CIZ1:NM_001131018:exon7:c.G1053A:p.V351V,CIZ1:NM_001257976:exon7:c.G822A:p.V274V,CIZ1:NM_001131015:exon8:c.G1125A:p.V375V,CIZ1:NM_001131016:exon8:c.G1125A:p.V375V,CIZ1:NM_001131017:exon8:c.G1110A:p.V370V,CIZ1:NM_001257975:exon8:c.G1215A:p.V405V,CIZ1:NM_012127:exon8:c.G1125A:p.V375V 246 35 0.125 228 0 0.000 5.07121677736358254e-10 0.400 --- 233,202,30,0.129 192,192,0,0.000 8.211 13.986 chr9 131186857 131186857 G A exonic CERCAM nonsynonymous SNV CERCAM:NM_016174:exon5:c.G730A:p.D244N Score=601;Name=lod=369 0 0.999189 C 1.0 D 0.998 D 1.0 D 0.99867 D 4.66 130 39 0.231 134 0 0.000 1.52103894283400454e-11 0.436 --- 144,108,36,0.250 113,113,0,0.000 9.985 15.654 chr9 131287634 131287634 A C exonic GLE1 nonsynonymous SNV GLE1:NM_001003722:exon7:c.A1061C:p.Q354P,GLE1:NM_001499:exon7:c.A1061C:p.Q354P Score=278;Name=lod=18 0.08 0.974941 C 0.96 D 0.0050 B 0.999936 D 0.998698 D 4.19 95 11 0.104 102 0 0.000 0.000755759791419804749 0.545 --- 88,79,9,0.102 84,84,0,0.000 2.495 4.2 chr9 131346788 131346788 C T exonic SPTAN1 synonymous SNV SPTAN1:NM_001130438:exon17:c.C2421T:p.A807A,SPTAN1:NM_001195532:exon17:c.C2421T:p.A807A,SPTAN1:NM_003127:exon17:c.C2421T:p.A807A Score=485;Name=lod=125 184 44 0.193 216 0 0.000 2.10032800373167405e-14 0.523 --- 192,159,33,0.172 177,177,0,0.000 9.968 10.557 chr9 131743637 131743637 G A exonic NUP188 nonsynonymous SNV NUP188:NM_015354:exon15:c.G1484A:p.R495Q Score=525;Name=lod=182 0.04 0.999515 C 0.82 T 0.941 D 1.0 D 0.982219 D 5.05 63 7 0.100 78 0 0.000 0.0044862278823438317 0.429 --- 55,49,6,0.109 64,64,0,0.000 2.078 7.514 chr9 131763998 131763998 G A exonic NUP188 nonsynonymous SNV NUP188:NM_015354:exon35:c.G4034A:p.R1345H Score=483;Name=lod=122 0.000154 rs200285591 0.01 0.999508 C 0.98 D 0.922 D 1.0 D 0.996138 D 5.04 104 26 0.200 103 0 0.000 1.50934598352153103e-07 0.385 --- 113,92,21,0.186 84,84,0,0.000 5.238 10.212 chr9 131784698 131784698 G A exonic SH3GLB2 nonsynonymous SNV SH3GLB2:NM_020145:exon2:c.C68T:p.T23M Score=536;Name=lod=201 0 0.999633 C 1.0 D 1.0 D 1.0 D 0.999988 D 5.27 74 12 0.140 71 0 0.000 0.000544596088926932569 0.250 --- 89,75,14,0.157 70,70,0,0.000 3.542 5.76 chr9 131848487 131848487 C T exonic DOLPP1 synonymous SNV DOLPP1:NM_020438:exon6:c.C531T:p.I177I Score=638;Name=lod=524 0.000077 98 44 0.310 122 0 0.000 6.96068882183770387e-14 0.523 --- 117,80,37,0.316 102,102,0,0.000 11.395 60 chr9 131862145 131862145 G A exonic CRAT nonsynonymous SNV CRAT:NM_000755:exon8:c.C1085T:p.T362M,CRAT:NM_001257363:exon9:c.C1022T:p.T341M Score=422;Name=lod=69 rs200496888 0.11 0.99119 C 0.81 T 0.0090 B 1.0 D 0.994417 D 3.52 71 15 0.174 109 0 0.000 2.20796054924297726e-06 0.733 --- 68,56,12,0.176 75,75,0,0.000 4.115 12.564 chr9 132891038 132891038 C T exonic GPR107 synonymous SNV GPR107:NM_020960:exon17:c.C1560T:p.S520S,GPR107:NM_001136558:exon18:c.C1617T:p.S539S,GPR107:NM_001136557:exon19:c.C1704T:p.S568S Score=599;Name=lod=364 0.000077 ID=COSM244747;OCCURENCE=1(prostate) rs140871924 52 6 0.103 65 0 0.000 0.00952494919733547712 0.333 --- 47,43,4,0.085 55,55,0,0.000 1.377 5.055 chr9 133370286 133370286 C T exonic ASS1 nonsynonymous SNV ASS1:NM_054012:exon13:c.C1003T:p.R335C,ASS1:NM_000050:exon14:c.C1003T:p.R335C Score=668;Name=lod=692 0.000077 ID=COSM1238243;OCCURENCE=1(oesophagus) 0.04 0.997056 C 0.99 D 1.0 D 1.0 U 0.999866 D 4.35 150 20 0.118 182 0 0.000 2.58171543507932079e-07 0.550 --- 138,122,16,0.116 150,150,0,0.000 5.321 5.275 chr9 133945179 133945179 C T exonic LAMC3 nonsynonymous SNV LAMC3:NM_006059:exon17:c.C3011T:p.T1004M Score=548;Name=lod=225 0.000077 0.03 0.955232 C 0.89 T 0.154 P 0.968119 N 9.66E-4 N 1.45 142 27 0.160 145 0 0.000 2.73338263964078265e-08 0.333 --- 134,112,20,0.152 120,120,0,0.000 5.887 8.793 chr9 135277275 135277275 G A exonic TTF1 nonsynonymous SNV TTF1:NM_007344:exon2:c.C934T:p.P312S 0.43 0.97376 C 1.0 D 0.679 P 0.85751 NA 0.0024 N 0.648 301 35 0.104 279 0 0.000 2.90835861235870603e-10 0.343 --- 277,246,30,0.109 227,227,0,0.000 8.112 9.681 chr9 135771784 135771784 A G exonic TSC1 synonymous SNV TSC1:NM_001162427:exon22:c.T3180C:p.S1060S,TSC1:NM_000368:exon23:c.T3333C:p.S1111S,TSC1:NM_001162426:exon23:c.T3330C:p.S1110S 255 31 0.108 267 0 0.000 6.39129254192319575e-10 0.452 --- 249,222,27,0.108 238,235,0,0.000 8.032 7.942 chr9 135797246 135797246 C T exonic TSC1 nonsynonymous SNV TSC1:NM_001162427:exon6:c.G470A:p.S157N,TSC1:NM_000368:exon7:c.G623A:p.S208N,TSC1:NM_001162426:exon7:c.G623A:p.S208N Score=673;Name=lod=726 0 0.987556 C 0.97 D 0.957 D 1.0 D 0.823848 D 4.69 126 14 0.100 157 0 0.000 1.86424574221369083e-05 0.643 --- 119,107,12,0.101 130,130,0,0.000 3.980 6.544 chr9 135976969 135976969 C T exonic RALGDS nonsynonymous SNV RALGDS:NM_001042368:exon16:c.G2227A:p.D743N,RALGDS:NM_001271774:exon16:c.G2305A:p.D769N,RALGDS:NM_001271775:exon16:c.G2389A:p.D797N,RALGDS:NM_001271776:exon16:c.G2356A:p.D786N,RALGDS:NM_006266:exon16:c.G2392A:p.D798N Score=552;Name=lod=233 0.01 0.998636 C 1.0 D 0.833 P 0.999996 N 3.64E-4 N 5.07 201 58 0.224 258 0 0.000 1.89794120255294321e-19 0.569 --- 222,172,50,0.225 234,234,0,0.000 17.017 60 chr9 136215781 136215781 A T exonic RPL7A nonsynonymous SNV RPL7A:NM_000972:exon2:c.A8T:p.K3I Score=583;Name=lod=313 0 0.995355 C 0.98 D 0.774604 NA 0.999999 D 0.987551 D 4.03 116 20 0.147 150 0 0.000 1.58765652179311069e-07 0.600 --- 111,95,16,0.144 130,129,1,0.008 4.409 11.279 chr9 136535856 136535856 G A exonic SARDH nonsynonymous SNV SARDH:NM_001134707:exon19:c.C2345T:p.A782V,SARDH:NM_007101:exon19:c.C2345T:p.A782V Score=500;Name=lod=144 0.002186 0.01 rs141409671 0.49 0.93947 N 0.5 T 0.03 B 0.999997 N 0.321171 N -0.239 197 49 0.199 239 0 0.000 3.14940509751760498e-16 0.245 --- 203,160,43,0.212 205,205,0,0.000 14.122 15.955 chr9 137019648 137019648 C T exonic WDR5 nonsynonymous SNV WDR5:NM_052821:exon9:c.C692T:p.A231V,WDR5:NM_017588:exon10:c.C692T:p.A231V Score=542;Name=lod=213 0.31 0.99458 C 0.67 T 0.016 B 0.999886 D 0.998934 D 3.8 115 23 0.167 102 0 0.000 1.71157808289482524e-06 0.478 --- 105,89,16,0.152 84,84,0,0.000 4.142 15.353 chr9 137591847 137591847 G A exonic COL5A1 nonsynonymous SNV COL5A1:NM_000093:exon3:c.G370A:p.G124S Score=644;Name=lod=550 0.07 0.999399 C 0.93 T 0.747418 NA 1.0 U 0.988416 D 4.87 137 28 0.170 161 0 0.000 2.24031271017129572e-09 0.643 --- 126,104,22,0.175 126,126,0,0.000 6.757 14.654 chr9 137706727 137706727 G T exonic COL5A1 nonsynonymous SNV COL5A1:NM_000093:exon50:c.G3991T:p.D1331Y Score=601;Name=lod=370 0 0.999038 C 1.0 D 0.788302 NA 1.0 U 0.996828 D 4.54 72 18 0.200 102 0 0.000 4.3915454603235912e-07 0.444 --- 70,56,14,0.200 80,80,0,0.000 4.967 10.539 chr9 137779115 137779115 T C exonic FCN2 nonsynonymous SNV FCN2:NM_015837:exon7:c.T682C:p.W228R,FCN2:NM_004108:exon8:c.T796C:p.W266R Score=441;Name=lod=83 0 0.989768 C 1.0 D 1.0 D 0.999386 N 0.997064 D 3.27 122 26 0.176 137 0 0.000 1.39023664007297934e-08 0.462 --- 117,98,19,0.162 113,113,0,0.000 5.744 11.614 chr9 138377210 138377210 A C exonic PPP1R26 nonsynonymous SNV PPP1R26:NM_014811:exon4:c.A854C:p.K285T Score=251;Name=lod=14 Score=0.90162;Name=chr22:18703263 0.11 0.823001 N 0.89 T 0.966 D 0.982419 N 0.584849 D 2.19 232 52 0.183 293 0 0.000 7.2072692784599854e-18 0.577 --- 239,193,46,0.192 245,245,0,0.000 15.150 13.599 chr9 138588600 138588600 C T exonic SOHLH1 synonymous SNV SOHLH1:NM_001012415:exon5:c.G519A:p.A173A,SOHLH1:NM_001101677:exon5:c.G519A:p.A173A 156 29 0.157 185 0 0.000 1.1330252356178155e-09 0.379 --- 157,130,26,0.167 153,153,0,0.000 8.009 60 chr9 138710412 138710412 C T exonic CAMSAP1 nonsynonymous SNV CAMSAP1:NM_015447:exon13:c.G4010A:p.R1337H Score=300;Name=lod=22 0 0.998193 C 0.89 T 0.961 D 1.0 D 0.999993 D 4.81 130 19 0.128 176 0 0.000 1.893626332566959e-07 0.211 --- 124,107,17,0.137 145,145,0,0.000 5.992 9.179 chr9 138713408 138713408 C T exonic CAMSAP1 synonymous SNV CAMSAP1:NM_015447:exon11:c.G3099A:p.T1033T Score=546;Name=lod=221 160 45 0.220 213 0 0.000 7.50061340075877141e-16 0.444 --- 182,139,42,0.232 194,194,0,0.000 14.496 12.922 chr9 138754426 138754426 G T exonic CAMSAP1 nonsynonymous SNV CAMSAP1:NM_015447:exon5:c.C695A:p.A232D 0.11 118 29 0.197 119 0 0.000 8.98810395371516043e-09 0.414 --- 116,96,20,0.172 106,105,1,0.009 4.888 11.605 chr9 138903402 138903402 G A exonic NACC2 nonsynonymous SNV NACC2:NM_144653:exon6:c.C1724T:p.A575V 0 0.820125 N 1.0 D 0.513348 NA 0.811725 NA 0.035305 N -2.53 165 53 0.243 248 0 0.000 7.11908125646183877e-20 0.585 --- 186,141,45,0.242 202,202,0,0.000 15.738 9.432 chr9 139110998 139110998 C T exonic QSOX2 synonymous SNV QSOX2:NM_181701:exon7:c.G834A:p.L278L Score=333;Name=lod=30 128 21 0.141 133 0 0.000 7.99599921152890081e-07 0.381 --- 118,100,18,0.153 116,116,0,0.000 5.419 7.956 chr9 139286508 139286508 C T exonic SNAPC4 synonymous SNV SNAPC4:NM_003086:exon9:c.G861A:p.S287S 0.000231 rs151267339 150 29 0.162 158 0 0.000 6.00798351179302311e-09 0.345 --- 147,124,23,0.156 131,131,0,0.000 6.724 11.994 chr9 139352005 139352005 G A exonic SEC16A nonsynonymous SNV SEC16A:NM_001276418:exon17:c.C5441T:p.A1814V,SEC16A:NM_014866:exon18:c.C5441T:p.A1814V Score=435;Name=lod=78 0.000080 ID=COSM1225055,COSM1225054;OCCURENCE=1(large_intestine) 0 116 35 0.232 174 0 0.000 2.06147126169274195e-13 0.400 --- 125,93,32,0.256 144,144,0,0.000 11.707 11.01 chr9 139370288 139370288 G A exonic SEC16A nonsynonymous SNV SEC16A:NM_001276418:exon2:c.C1780T:p.P594S,SEC16A:NM_014866:exon3:c.C1780T:p.P594S Score=329;Name=lod=29 0 160 39 0.196 182 0 0.000 1.4118431087216115e-12 0.590 --- 170,140,30,0.176 156,156,0,0.000 9.042 60 chr9 139616585 139616585 C T exonic FAM69B synonymous SNV FAM69B:NM_152421:exon4:c.C315T:p.S105S Score=516;Name=lod=166 0.000077 0.7 156 32 0.170 187 0 0.000 1.10132184954192141e-10 0.625 --- 166,137,29,0.175 164,163,0,0.000 8.999 15.654 chr9 139751691 139751691 C T exonic MAMDC4 nonsynonymous SNV MAMDC4:NM_206920:exon17:c.C2047T:p.R683C Score=452;Name=lod=92 0.1 0.966736 C 0.99 D 0.012 B 0.742538 N 0.302306 N 1.65 257 75 0.226 248 0 0.000 1.26360281274907541e-20 0.613 --- 287,224,63,0.220 216,216,0,0.000 16.721 60 chr9 139847442 139847442 T C exonic LCN12 synonymous SNV LCN12:NM_178536:exon2:c.T213C:p.S71S 153 30 0.164 143 0 0.000 1.27650023937396942e-08 0.400 --- 154,131,22,0.144 123,123,0,0.000 5.879 14.808 chr9 139909921 139909921 G A exonic ABCA2 synonymous SNV ABCA2:NM_001606:exon24:c.C3642T:p.G1214G,ABCA2:NM_212533:exon24:c.C3732T:p.G1244G 0.000078 210 45 0.176 241 0 0.000 1.32917033084164754e-14 0.444 --- 214,176,38,0.178 189,189,0,0.000 11.069 8.478 chr9 140002045 140002045 C T exonic MAN1B1 synonymous SNV MAN1B1:NM_016219:exon12:c.C1827T:p.R609R 0.0005 rs201933207 177 40 0.184 188 0 0.000 2.51995774853728013e-12 0.550 --- 182,146,36,0.198 158,158,0,0.000 10.476 60 chr9 140136281 140136281 G T exonic TUBB4B nonsynonymous SNV TUBB4B:NM_006088:exon2:c.G166T:p.G56C Score=653;Name=lod=600 0.01 0.96666 C 0.91 T 0.0030 B 0.317446 U 0.170204 NA 2.88 166 23 0.122 161 0 0.000 5.90344773746252602e-07 0.609 --- 150,133,17,0.113 128,128,0,0.000 4.723 9.66 chr9 140325537 140325537 C T exonic NOXA1 nonsynonymous SNV NOXA1:NM_001256068:exon5:c.C515T:p.A172V,NOXA1:NM_001256067:exon7:c.C683T:p.A228V,NOXA1:NM_006647:exon7:c.C683T:p.A228V 0.000154 1 0.001629 N 0.0 T 0.0010 B 5.2E-5 U 0.02542 N -4.61 139 27 0.163 136 0 0.000 3.78396293433426985e-08 0.481 --- 137,115,22,0.161 109,109,0,0.000 5.889 12.164 chr9 140708900 140708900 C T exonic EHMT1 synonymous SNV EHMT1:NM_024757:exon22:c.C3198T:p.D1066D Score=617;Name=lod=429 102 16 0.136 125 1 0.008 5.77628363822381101e-05 0.562 1.000 101,87,12,0.121 100,99,1,0.010 2.893 9.201 chr10 430577 430577 G A exonic DIP2C synonymous SNV DIP2C:NM_014974:exon15:c.C1665T:p.S555S Score=573;Name=lod=285 73 12 0.141 101 0 0.000 5.28093822787184159e-05 0.250 --- 69,59,10,0.145 74,73,0,0.000 3.291 7.987 chr10 5138657 5138657 G A exonic AKR1C3 nonsynonymous SNV AKR1C3:NM_001253908:exon2:c.G140A:p.R47H,AKR1C3:NM_001253909:exon2:c.G140A:p.R47H,AKR1C3:NM_003739:exon2:c.G140A:p.R47H Score=333;Name=lod=30 0.06 0.767742 N 0.97 D 0.219 P 0.98819 N 0.570422 D -0.276 197 51 0.206 292 0 0.000 2.64235756175507165e-19 0.667 --- 218,176,41,0.189 235,235,0,0.000 14.007 12.518 chr10 7697627 7697627 C A exonic ITIH5 nonsynonymous SNV ITIH5:NM_001001851:exon2:c.G102T:p.R34S,ITIH5:NM_030569:exon2:c.G102T:p.R34S Score=340;Name=lod=32 0 0.895535 N 1.0 D 0.999 D 0.999829 D 0.579147 D 1.06 59 10 0.145 64 0 0.000 0.00145661807776945549 0.400 --- 52,45,7,0.135 54,54,0,0.000 2.260 6.653 chr10 8007484 8007484 G A exonic TAF3 nonsynonymous SNV TAF3:NM_031923:exon3:c.G2011A:p.A671T 0.23 0.898148 N 0.95 T 0.0 B 0.999093 N 0.976835 D 0.913 301 41 0.120 341 0 0.000 2.5410973726395057e-13 0.634 --- 270,236,34,0.126 268,268,0,0.000 10.413 6.834 chr10 8100600 8100600 G A exonic GATA3 nonsynonymous SNV GATA3:NM_001002295:exon3:c.G574A:p.D192N,GATA3:NM_002051:exon3:c.G574A:p.D192N Score=585;Name=lod=319 0.15 0.989457 C 0.82 T 0.445 P 6.0E-6 N 0.509928 D 3.84 176 43 0.196 268 0 0.000 9.67889512364294139e-17 0.512 --- 202,162,39,0.194 236,235,0,0.000 14.069 60 chr10 11330414 11330414 C T exonic CELF2 nonsynonymous SNV CELF2:NM_001025076:exon9:c.C782T:p.T261M,CELF2:NM_001025077:exon9:c.C854T:p.T285M,CELF2:NM_001083591:exon9:c.C782T:p.T261M,CELF2:NM_006561:exon9:c.C875T:p.T292M Score=686;Name=lod=819 0.01 0.99686 C 0.82 T 0.54 P 1.0 D 0.999519 D 4.3 137 30 0.180 207 0 0.000 6.45446661365658867e-12 0.800 --- 140,114,26,0.186 171,171,0,0.000 9.621 11.961 chr10 11908662 11908662 T C exonic PROSER2 nonsynonymous SNV PROSER2:NM_153256:exon3:c.T271C:p.S91P 1 0.76667 N 0.65 T 0.0010 B 0.98295 N 0.001106 N 1.05 228 28 0.109 266 0 0.000 9.78506140242934161e-10 0.536 --- 205,181,24,0.117 222,222,0,0.000 7.971 5.354 chr10 12162882 12162882 G A exonic DHTKD1 nonsynonymous SNV DHTKD1:NM_018706:exon17:c.G2755A:p.A919T 0.02 0.194075 N 0.95 T 0.0 B 0.85579 N 0.270907 N -1.03 86 16 0.157 111 0 0.000 3.9389792608358816e-06 0.500 --- 80,65,15,0.188 87,87,0,0.000 5.121 8.188 chr10 13233399 13233399 G A exonic MCM10 nonsynonymous SNV MCM10:NM_018518:exon11:c.G1516A:p.G506R,MCM10:NM_182751:exon11:c.G1519A:p.G507R Score=321;Name=lod=27 0.02 0.994954 C 0.76 T 0.669 P 0.999639 D 0.67231 NA 4.24 59 14 0.192 68 0 0.000 6.82097409832376562e-05 0.357 --- 56,45,11,0.196 57,56,0,0.000 3.246 8.623 chr10 13237156 13237156 G A exonic MCM10 nonsynonymous SNV MCM10:NM_018518:exon14:c.G1861A:p.A621T,MCM10:NM_182751:exon14:c.G1864A:p.A622T 0.67 0.222828 N 0.94 T 0.0 B 0.504482 N 0.718951 D -4.16 125 22 0.150 164 0 0.000 2.8322400967715046e-08 0.591 --- 120,101,19,0.158 128,127,0,0.000 6.302 9.971 chr10 13239711 13239711 A G exonic MCM10 nonsynonymous SNV MCM10:NM_018518:exon15:c.A2063G:p.Q688R,MCM10:NM_182751:exon15:c.A2066G:p.Q689R 0.64 0.974533 C 0.36 T 0.0030 B 0.295372 N 0.00194 N 2.62 90 20 0.182 141 0 0.000 2.36111080840882347e-08 0.600 --- 91,73,18,0.198 108,108,0,0.000 6.555 15.955 chr10 15821010 15821010 C T exonic FAM188A nonsynonymous SNV FAM188A:NM_024948:exon15:c.G1319A:p.R440H Score=508;Name=lod=155 0.000154 0.0005 rs142355387 0.62 0.998721 C 0.4 T 0.122 B 1.0 D 0.99992 D 5.13 84 18 0.176 113 0 0.000 6.25819134899158753e-07 0.444 --- 82,68,14,0.171 99,99,0,0.000 5.101 9.41 chr10 16948317 16948317 G A exonic CUBN synonymous SNV CUBN:NM_001081:exon50:c.C7797T:p.C2599C Score=549;Name=lod=228 Score=0.918102;Name=chr10:45622567 0.000154 rs138758085 88 14 0.137 102 0 0.000 7.56797142657400272e-05 0.429 --- 82,68,13,0.160 83,83,0,0.000 4.212 9.593 chr10 17750938 17750938 C T exonic STAM nonsynonymous SNV STAM:NM_003473:exon13:c.C1373T:p.A458V Score=445;Name=lod=86 0.35 0.998626 C 0.6 T 0.0010 B 0.606544 N 0.76551 D 5.06 150 17 0.102 178 0 0.000 2.8269336602257318e-06 0.235 --- 145,131,14,0.097 155,154,0,0.000 4.547 8.782 chr10 18789834 18789834 C A exonic CACNB2 nonsynonymous SNV CACNB2:NM_000724:exon4:c.C385A:p.L129M,CACNB2:NM_201570:exon4:c.C406A:p.L136M,CACNB2:NM_201590:exon4:c.C388A:p.L130M,CACNB2:NM_001167945:exon5:c.C466A:p.L156M,CACNB2:NM_201571:exon5:c.C466A:p.L156M,CACNB2:NM_201572:exon5:c.C466A:p.L156M,CACNB2:NM_201593:exon5:c.C550A:p.L184M,CACNB2:NM_201596:exon5:c.C550A:p.L184M,CACNB2:NM_201597:exon5:c.C550A:p.L184M Score=671;Name=lod=709 0.12 0.999164 C 0.81 T 0.0010 B 0.999983 D 0.338596 N 5.53 69 14 0.169 82 0 0.000 6.71615972923372058e-05 0.571 --- 66,56,10,0.152 68,68,0,0.000 3.238 11.289 chr10 21414959 21414959 A G exonic C10orf113 synonymous SNV C10orf113:NM_001010896:exon2:c.T261C:p.L87L 94 27 0.223 149 0 0.000 6.44167376969736213e-11 0.481 --- 102,79,23,0.225 120,120,0,0.000 8.422 12.531 chr10 24832967 24832967 C T exonic KIAA1217 nonsynonymous SNV KIAA1217:NM_019590:exon19:c.C4768T:p.R1590C Score=393;Name=lod=53 0.000077 ID=COSM275691;OCCURENCE=1(large_intestine) 0 0.975341 C 1.0 D 1.0 D 1.0 D 0.636343 D 3.79 120 24 0.167 208 0 0.000 1.41340297176317569e-10 0.333 --- 130,108,22,0.169 182,182,0,0.000 8.854 15.051 chr10 25887414 25887414 T A exonic GPR158 synonymous SNV GPR158:NM_020752:exon11:c.T2859A:p.T953T Score=313;Name=lod=25 120 14 0.104 143 0 0.000 2.65726268178301891e-05 0.500 --- 111,100,11,0.099 124,124,0,0.000 3.702 10.643 chr10 27454013 27454013 C A exonic MASTL nonsynonymous SNV MASTL:NM_001172303:exon5:c.C574A:p.L192I,MASTL:NM_001172304:exon5:c.C574A:p.L192I,MASTL:NM_032844:exon5:c.C574A:p.L192I Score=556;Name=lod=243 0.18 0.999159 C 0.87 T 0.813 P 1.0 D 0.999786 D 5.52 42 9 0.176 64 0 0.000 0.000432631343659698928 0.667 --- 38,31,7,0.184 51,51,0,0.000 2.737 10.703 chr10 28032226 28032226 C G exonic MKX nonsynonymous SNV MKX:NM_001242702:exon2:c.G119C:p.R40P,MKX:NM_173576:exon2:c.G119C:p.R40P Score=574;Name=lod=287 0.17 0.976451 C 0.7 T 0.183 P 0.986197 N 0.004391 N 1.39 181 28 0.134 303 0 0.000 4.06149216431471569e-12 0.571 --- 177,152,25,0.141 241,241,0,0.000 9.785 8.451 chr10 29779920 29779920 G A exonic SVIL nonsynonymous SNV SVIL:NM_003174:exon20:c.C2770T:p.R924W,SVIL:NM_021738:exon22:c.C4048T:p.R1350W Score=469;Name=lod=107 Score=0.91997;Name=chr10:30954937 0 0.998682 C 1.0 D 1.0 D 1.0 D 0.999772 D 3.77 148 24 0.140 218 0 0.000 1.12163892540893822e-09 0.375 --- 140,116,24,0.171 166,166,0,0.000 8.657 15.051 chr10 30316109 30316109 C T exonic KIAA1462 nonsynonymous SNV KIAA1462:NM_020848:exon3:c.G2968A:p.A990T 1 0.014554 N 0.0 T 0.0 B 0.022081 N 2.0E-6 N -7.94 168 21 0.111 186 0 0.000 5.35156315214017708e-07 0.524 --- 165,144,21,0.127 160,160,0,0.000 6.296 11.014 chr10 33545270 33545270 C T exonic NRP1 nonsynonymous SNV NRP1:NM_001024628:exon5:c.G788A:p.S263N,NRP1:NM_001024629:exon5:c.G788A:p.S263N,NRP1:NM_001244972:exon5:c.G788A:p.S263N,NRP1:NM_001244973:exon5:c.G788A:p.S263N,NRP1:NM_003873:exon5:c.G788A:p.S263N Score=420;Name=lod=68 0.23 0.940163 N 0.57 T 0.0090 B 1.0 D 0.476276 NA 3.33 126 14 0.100 131 0 0.000 9.53535480315631008e-05 0.500 --- 115,101,14,0.122 104,104,0,0.000 4.003 12.202 chr10 35360267 35360267 T C exonic CUL2 synonymous SNV CUL2:NM_001198778:exon2:c.A36G:p.R12R,CUL2:NM_001198779:exon2:c.A18G:p.E6E Score=632;Name=lod=492 47 9 0.161 79 0 0.000 0.000242392400397111762 0.000 --- 51,41,9,0.180 66,66,0,0.000 3.483 6.693 chr10 35894551 35894551 C T exonic GJD4 nonsynonymous SNV GJD4:NM_153368:exon1:c.C56T:p.T19I Score=399;Name=lod=56 0 0.999049 C 1.0 D 0.924 D 0.999873 D 0.953265 D 5.41 47 11 0.190 58 0 0.000 0.000579323738888503323 0.364 --- 48,39,9,0.188 48,48,0,0.000 2.587 9.244 chr10 37419219 37419219 G A exonic ANKRD30A synonymous SNV ANKRD30A:NM_052997:exon3:c.G255A:p.T85T Score=363;Name=lod=40 Score=0.915583;Name=chr10:45680038 138 29 0.174 192 0 0.000 5.54781070748839444e-11 0.517 --- 127,106,20,0.159 145,145,0,0.000 7.031 8.953 chr10 43601893 43601893 C T exonic RET nonsynonymous SNV RET:NM_020630:exon5:c.C937T:p.R313W,RET:NM_020975:exon5:c.C937T:p.R313W Score=295;Name=lod=21 0 0.999012 C 1.0 D 0.998 D 0.999754 D 0.198251 N 3.45 126 40 0.241 211 0 0.000 2.86613554358744695e-16 0.500 --- 132,102,30,0.227 163,163,0,0.000 11.366 7.965 chr10 43697339 43697339 C T exonic RASGEF1A nonsynonymous SNV RASGEF1A:NM_145313:exon4:c.G376A:p.E126K Score=422;Name=lod=69 0 0.998617 C 0.99 D 0.995 D 1.0 D 0.831942 D 5.07 152 37 0.196 179 0 0.000 3.2386878402648582e-12 0.432 --- 155,125,30,0.194 141,141,0,0.000 9.055 8.693 chr10 48413761 48413761 C T exonic GDF2 synonymous SNV GDF2:NM_016204:exon2:c.G1107A:p.T369T 143 25 0.149 171 0 0.000 9.02485456880838841e-09 0.520 --- 150,127,23,0.153 151,151,0,0.000 7.355 10.245 chr10 48429145 48429145 A G exonic GDF10 synonymous SNV GDF10:NM_004962:exon2:c.T741C:p.Y247Y Score=483;Name=lod=123 115 30 0.207 160 0 0.000 3.55588598650601581e-11 0.567 --- 133,104,28,0.212 148,148,0,0.000 9.878 60 chr10 50824587 50824587 C T exonic CHAT nonsynonymous SNV CHAT:NM_020549:exon2:c.C326T:p.T109M,CHAT:NM_001142933:exon3:c.C80T:p.T27M Score=352;Name=lod=36 0.09 0.963359 C 0.93 T 0.0 B 0.998951 N 1.08E-4 N 3.27 65 8 0.110 89 0 0.000 0.00136181293055165038 0.625 --- 60,52,8,0.133 72,72,0,0.000 2.857 6.872 chr10 51748674 51748674 G A exonic AGAP6 nonsynonymous SNV AGAP6:NM_001077665:exon1:c.G199A:p.V67I Score=333;Name=lod=30 Score=0.994581;Name=chr10:51217651 0.51 524 139 0.210 693 2 0.003 4.71171136405170002e-44 0.374 0.500 556,440,116,0.209 584,583,1,0.002 37.327 4.885 chr10 52751276 52751276 G A exonic PRKG1 synonymous SNV PRKG1:NM_001098512:exon1:c.G138A:p.V46V Score=666;Name=lod=678 191 41 0.177 272 0 0.000 1.89942973271652724e-15 0.463 --- 197,158,39,0.198 217,217,0,0.000 13.528 10.613 chr10 61083804 61083804 A G exonic FAM13C synonymous SNV FAM13C:NM_001001971:exon4:c.T387C:p.H129H,FAM13C:NM_198215:exon4:c.T387C:p.H129H,FAM13C:NM_001143773:exon5:c.T138C:p.H46H,FAM13C:NM_001166698:exon5:c.T138C:p.H46H 81 21 0.206 122 0 0.000 1.92609139969618587e-08 0.619 --- 85,68,16,0.190 96,96,0,0.000 5.660 13.061 chr10 62039363 62039363 C T exonic ANK3 nonsynonymous SNV ANK3:NM_001204404:exon2:c.G98A:p.R33Q,ANK3:NM_020987:exon2:c.G149A:p.R50Q,ANK3:NM_001204403:exon3:c.G131A:p.R44Q Score=578;Name=lod=298 0.02 0.999043 C 1.0 D 0.996 D 0.998042 N 0.993232 D 4.87 95 19 0.167 121 0 0.000 4.63134129163368012e-07 0.579 --- 91,76,14,0.156 96,96,0,0.000 4.659 6.578 chr10 63829546 63829546 C T exonic ARID5B nonsynonymous SNV ARID5B:NM_001244638:exon5:c.C460T:p.H154Y,ARID5B:NM_032199:exon8:c.C1189T:p.H397Y Score=563;Name=lod=260 0.01 0.999341 C 0.99 D 0.99 D 1.0 D 0.996841 D 5.75 103 18 0.149 118 0 0.000 3.92874553922304131e-06 0.389 --- 99,85,14,0.141 89,89,0,0.000 4.023 10.411 chr10 69750053 69750053 C A exonic HERC4 nonsynonymous SNV HERC4:NM_015601:exon14:c.G1548T:p.M516I,HERC4:NM_022079:exon14:c.G1548T:p.M516I Score=718;Name=lod=1105 ID=COSM325489;OCCURENCE=1(lung) 0.03 0.998781 C 0.94 T 0.662 P 1.0 D 0.789419 D 5.17 68 15 0.181 108 0 0.000 1.70284924084577559e-06 0.533 --- 70,56,14,0.200 84,84,0,0.000 5.134 11.689 chr10 70101439 70101439 T C splicing HNRNPH3 NM_012207:exon8:c.871+2T>C,NM_021644:exon8:c.826+2T>C Score=582;Name=lod=310 68 9 0.117 89 0 0.000 0.000762639977826905691 0.667 --- 68,59,9,0.132 73,73,0,0.000 2.977 8.086 chr10 70174833 70174833 C T exonic DNA2 nonsynonymous SNV DNA2:NM_001080449:exon21:c.G3146A:p.S1049N Score=410;Name=lod=62 0 42 9 0.176 59 0 0.000 0.000655200495098886003 0.556 --- 40,34,6,0.150 46,46,0,0.000 2.088 4.801 chr10 71142416 71142416 C G exonic HK1 nonsynonymous SNV HK1:NM_000188:exon10:c.C1439G:p.T480S,HK1:NM_033496:exon10:c.C1436G:p.T479S,HK1:NM_033497:exon13:c.C1451G:p.T484S,HK1:NM_033498:exon13:c.C1451G:p.T484S,HK1:NM_033500:exon14:c.C1403G:p.T468S Score=552;Name=lod=234 1 0.983443 C 0.0 T 0.0 B 0.999992 N 0.919331 D 4.25 115 18 0.135 158 0 0.000 3.88362057345888635e-07 0.556 --- 121,105,16,0.132 138,138,0,0.000 5.533 10.09 chr10 71164757 71164757 G A exonic TACR2 nonsynonymous SNV TACR2:NM_001057:exon5:c.C1022T:p.T341M 0.0005 rs149794645 0.05 0.967717 C 0.98 D 0.06 B 0.998579 N 0.152387 N -0.563 111 31 0.218 179 0 0.000 1.35758891937964226e-12 0.387 --- 117,92,25,0.214 140,140,0,0.000 9.220 60 chr10 72061168 72061168 G A exonic LRRC20 nonsynonymous SNV LRRC20:NM_018205:exon4:c.C329T:p.P110L,LRRC20:NM_018239:exon4:c.C347T:p.P116L,LRRC20:NM_207119:exon5:c.C497T:p.P166L Score=405;Name=lod=59 0 0.999603 C 1.0 D 0.238 P 0.999997 D 0.528261 D 4.87 190 54 0.221 230 0 0.000 1.10990085725676375e-17 0.389 --- 207,165,42,0.203 192,192,0,0.000 12.927 60 chr10 73048395 73048395 C T exonic UNC5B synonymous SNV UNC5B:NM_001244889:exon7:c.C972T:p.R324R,UNC5B:NM_170744:exon7:c.C972T:p.R324R 0.0082 223 48 0.177 291 0 0.000 5.87286563669603787e-17 0.500 --- 219,182,37,0.169 219,219,0,0.000 11.558 10.792 chr10 73972982 73972982 G T exonic ASCC1 synonymous SNV ASCC1:NM_001198798:exon2:c.C75A:p.T25T,ASCC1:NM_001198799:exon2:c.C75A:p.T25T,ASCC1:NM_001198800:exon2:c.C75A:p.T25T 54 12 0.182 81 0 0.000 3.6730817189752482e-05 0.417 --- 54,45,9,0.167 65,65,0,0.000 3.260 10.795 chr10 74695492 74695492 G T exonic PLA2G12B synonymous SNV PLA2G12B:NM_032562:exon4:c.C471A:p.A157A Score=461;Name=lod=100 129 30 0.189 191 0 0.000 1.0142595651996314e-11 0.267 --- 136,109,27,0.199 155,154,1,0.006 8.354 15.0 chr10 75051475 75051475 T A exonic TTC18 nonsynonymous SNV TTC18:NM_145170:exon19:c.A2153T:p.N718I Score=624;Name=lod=460 0.07 0.99827 C 0.98 D 0.972 D 0.999285 N 0.576369 D 5.47 129 17 0.116 99 0 0.000 0.000138204351298235331 0.529 --- 123,104,19,0.154 85,85,0,0.000 4.502 8.647 chr10 75214208 75214208 T C exonic PPP3CB nonsynonymous SNV PPP3CB:NM_001142353:exon10:c.A1148G:p.D383G,PPP3CB:NM_001142354:exon10:c.A1148G:p.D383G,PPP3CB:NM_021132:exon10:c.A1148G:p.D383G Score=665;Name=lod=672 0 0.998541 C 0.95 T 0.0080 B 1.0 D 0.999819 D 5.64 54 14 0.206 77 0 0.000 1.13088998379365519e-05 0.429 --- 54,43,11,0.204 60,60,0,0.000 3.828 9.836 chr10 75408384 75408384 G A exonic SYNPO2L synonymous SNV SYNPO2L:NM_024875:exon2:c.C354T:p.D118D,SYNPO2L:NM_001114133:exon4:c.C1026T:p.D342D Score=391;Name=lod=52 239 65 0.214 266 0 0.000 6.23129471599091204e-20 0.446 --- 261,203,58,0.222 236,236,0,0.000 17.652 15.955 chr10 75551737 75551737 G T exonic ZSWIM8 nonsynonymous SNV ZSWIM8:NM_001242487:exon10:c.G1440T:p.E480D,ZSWIM8:NM_001242488:exon10:c.G1440T:p.E480D,ZSWIM8:NM_015037:exon10:c.G1440T:p.E480D Score=643;Name=lod=549 0.01 234 57 0.196 266 0 0.000 5.82392317358989493e-18 0.509 --- 257,206,51,0.198 225,225,0,0.000 15.033 60 chr10 75565424 75565424 C T exonic NDST2 nonsynonymous SNV NDST2:NM_003635:exon8:c.G1667A:p.R556H Score=693;Name=lod=875 0.0005 rs199671198 0 0.999094 C 0.99 D 0.717 P 1.0 D 0.99849 D 5.45 138 29 0.174 157 0 0.000 1.40978874447966402e-09 0.621 --- 139,116,23,0.165 126,126,0,0.000 6.820 12.61 chr10 75884181 75884181 C T exonic AP3M1 synonymous SNV AP3M1:NM_012095:exon8:c.G1113A:p.P371P,AP3M1:NM_207012:exon9:c.G1113A:p.P371P 142 18 0.112 122 0 0.000 2.76636116216425965e-05 0.611 --- 117,103,14,0.120 98,98,0,0.000 3.834 6.557 chr10 76603133 76603133 G T exonic KAT6B nonsynonymous SNV KAT6B:NM_001256468:exon3:c.G518T:p.R173M,KAT6B:NM_001256469:exon3:c.G518T:p.R173M,KAT6B:NM_012330:exon3:c.G518T:p.R173M Score=472;Name=lod=110 0 0.999764 C 1.0 D 0.992 D 0.998798 N 0.081888 N 5.6 120 25 0.172 151 0 0.000 5.63421740115939631e-09 0.360 --- 122,100,22,0.180 129,129,0,0.000 7.357 10.938 chr10 78785205 78785205 G A exonic KCNMA1 nonsynonymous SNV KCNMA1:NM_001271518:exon16:c.C1777T:p.R593C,KCNMA1:NM_001014797:exon17:c.C1939T:p.R647C Score=712;Name=lod=1045 0.01 70 13 0.157 94 0 0.000 3.0910237910731507e-05 0.385 --- 60,50,10,0.167 67,67,0,0.000 3.443 6.003 chr10 79163646 79163646 C T exonic KCNMA1 nonsynonymous SNV KCNMA1:NM_001014797:exon2:c.G514A:p.A172T,KCNMA1:NM_001161352:exon2:c.G514A:p.A172T,KCNMA1:NM_001161353:exon2:c.G514A:p.A172T,KCNMA1:NM_001271519:exon2:c.G514A:p.A172T,KCNMA1:NM_002247:exon2:c.G514A:p.A172T Score=584;Name=lod=314 0 0.998809 C 0.99 D 0.783422 NA 0.999999 N 1.0 D 5.19 109 25 0.187 138 0 0.000 5.88592819754422697e-09 0.600 --- 113,90,22,0.196 120,120,0,0.000 7.471 8.347 chr10 81697698 81697698 G A exonic SFTPD synonymous SNV SFTPD:NM_003019:exon8:c.C1038T:p.G346G 128 21 0.141 157 0 0.000 1.25726031926909611e-07 0.524 --- 123,105,18,0.146 134,133,0,0.000 6.032 7.761 chr10 88702784 88702784 C T exonic MMRN2 nonsynonymous SNV MMRN2:NM_024756:exon6:c.G1757A:p.R586H 0.34 0.21231 N 0.92 T 0.282 P 0.759484 N 0.00922 N -1.87 149 57 0.277 196 0 0.000 3.57293241592559432e-19 0.474 --- 183,129,54,0.295 169,169,0,0.000 17.083 60 chr10 88702870 88702870 C T exonic MMRN2 synonymous SNV MMRN2:NM_024756:exon6:c.G1671A:p.A557A 144 60 0.294 171 0 0.000 2.03623450734675561e-18 0.617 --- 171,120,51,0.298 140,140,0,0.000 14.768 60 chr10 88717216 88717216 C A exonic MMRN2 nonsynonymous SNV MMRN2:NM_024756:exon1:c.G83T:p.S28I rs112554066 0.09 0.197229 N 0.9 T 0.0030 B 0.130221 N 3.87E-4 N -1.63 120 22 0.155 159 0 0.000 2.61992026908403313e-08 0.591 --- 117,98,19,0.162 127,127,0,0.000 6.424 4.636 chr10 91066743 91066743 C A exonic IFIT2 nonsynonymous SNV IFIT2:NM_001547:exon2:c.C1030A:p.H344N 0.05 0.116942 N 0.89 T 0.972 D 0.99728 U 0.005816 N -1.78 107 20 0.157 138 0 0.000 1.75658991707185099e-07 0.450 --- 112,96,16,0.143 118,118,0,0.000 5.257 11.537 chr10 91528149 91528149 G A splicing KIF20B NM_016195:exon30:c.4971+1G>A Score=452;Name=lod=92 48 6 0.111 68 0 0.000 0.00638951591236316792 0.167 --- 40,34,5,0.128 52,52,0,0.000 1.907 4.7 chr10 93220255 93220255 G A exonic HECTD2 nonsynonymous SNV HECTD2:NM_173497:exon3:c.G340A:p.E114K,HECTD2:NM_182765:exon3:c.G340A:p.E114K Score=399;Name=lod=56 ID=COSM198466;OCCURENCE=1(large_intestine) 0.03 0.999506 C 1.0 D 0.855 D 1.0 D 0.900683 D 5.04 113 26 0.187 108 1 0.009 1.69277332296519394e-06 0.615 0.000 104,82,22,0.212 85,84,1,0.012 5.049 60 chr10 94333733 94333733 C A exonic IDE nonsynonymous SNV IDE:NM_004969:exon1:c.G44T:p.S15I Score=309;Name=lod=24 0.02 0.961632 C 0.95 T 0.082 B 0.943995 N 0.015757 N 0.522 88 15 0.146 114 0 0.000 7.86228830515418824e-06 0.400 --- 86,74,12,0.140 89,89,0,0.000 3.884 7.665 chr10 97101334 97101334 C T exonic SORBS1 nonsynonymous SNV SORBS1:NM_006434:exon16:c.G1481A:p.R494H,SORBS1:NM_001034957:exon17:c.G1649A:p.R550H,SORBS1:NM_015385:exon20:c.G1877A:p.R626H,SORBS1:NM_024991:exon21:c.G1772A:p.R591H,SORBS1:NM_001034956:exon22:c.G2084A:p.R695H,SORBS1:NM_001034954:exon25:c.G2531A:p.R844H,SORBS1:NM_001034955:exon25:c.G2597A:p.R866H Score=484;Name=lod=124 0.03 0.999319 C 0.98 D 0.994 D 0.993054 N 0.543664 D 5.72 82 25 0.234 70 0 0.000 1.07097481215376983e-06 0.440 --- 84,65,19,0.226 58,58,0,0.000 4.656 11.864 chr10 97174547 97174547 C A exonic SORBS1 nonsynonymous SNV SORBS1:NM_001034954:exon7:c.G514T:p.G172W,SORBS1:NM_001034955:exon7:c.G514T:p.G172W,SORBS1:NM_015385:exon8:c.G418T:p.G140W Score=612;Name=lod=409 0 0.982177 C 1.0 D 0.966 D 0.992627 N 0.037497 N 4.19 164 25 0.132 211 0 0.000 2.96067157170452509e-09 0.320 --- 157,134,23,0.146 169,169,0,0.000 7.689 5.526 chr10 97917056 97917056 C T exonic ZNF518A unknown UNKNOWN Score=516;Name=lod=167 0.01 149 41 0.216 219 0 0.000 1.68034265083624318e-15 0.488 --- 155,120,34,0.221 185,185,0,0.000 12.619 60 chr10 97919081 97919081 G A exonic ZNF518A unknown UNKNOWN 0.55 165 24 0.127 229 0 0.000 2.2744800510888686e-09 0.542 --- 162,140,22,0.136 200,200,0,0.000 8.048 12.396 chr10 98087272 98087272 G A exonic DNTT nonsynonymous SNV DNTT:NM_001017520:exon7:c.G922A:p.A308T,DNTT:NM_004088:exon7:c.G922A:p.A308T Score=528;Name=lod=187 0 0.991797 C 1.0 D 0.993 D 1.0 D 0.992171 D 4.0 196 28 0.125 299 0 0.000 1.75220484661608354e-11 0.643 --- 183,160,23,0.126 235,235,0,0.000 8.610 7.713 chr10 99145714 99145714 G T exonic RRP12 nonsynonymous SNV RRP12:NM_001145114:exon7:c.C871A:p.L291I,RRP12:NM_015179:exon9:c.C1054A:p.L352I Score=585;Name=lod=317 0.02 0.999413 C 0.93 T 0.033 B 0.999939 D 0.99679 D 3.65 54 10 0.156 68 0 0.000 0.000485399741720462256 0.300 --- 53,44,9,0.170 52,52,0,0.000 2.569 7.281 chr10 100190985 100190985 C T exonic HPS1 nonsynonymous SNV HPS1:NM_000195:exon7:c.G571A:p.V191I,HPS1:NM_182639:exon7:c.G571A:p.V191I 0.13 0.97394 C 0.84 T 0.0010 B 0.997501 N 0.0 N 3.66 140 23 0.141 143 0 0.000 2.43211360739798647e-07 0.348 --- 127,109,18,0.142 125,125,0,0.000 5.396 14.0 chr10 102777925 102777925 G A exonic PDZD7 nonsynonymous SNV PDZD7:NM_001195263:exon9:c.C1453T:p.R485C,PDZD7:NM_024895:exon9:c.C1453T:p.R485C ID=COSM283947,COSM283946;OCCURENCE=1(large_intestine) 0.01 0.976987 C 0.99 D 0.0 B 3.3E-5 N 0.011876 N 0.924 185 37 0.167 245 0 0.000 2.02154643997935209e-13 0.541 --- 167,140,27,0.162 201,201,0,0.000 9.805 11.527 chr10 103433291 103433291 C T exonic FBXW4 nonsynonymous SNV FBXW4:NM_022039:exon3:c.G496A:p.V166I Score=669;Name=lod=699 0.000077 0.0009 rs150456583 0 0.999007 C 1.0 D 0.762 P 1.0 D 0.992557 D 5.37 136 18 0.117 183 0 0.000 4.26478385381788055e-07 0.500 --- 127,112,15,0.118 148,148,0,0.000 5.238 7.059 chr10 103433385 103433385 G T exonic FBXW4 synonymous SNV FBXW4:NM_022039:exon3:c.C402A:p.S134S Score=669;Name=lod=699 119 20 0.144 165 0 0.000 7.19000029535145472e-08 0.350 --- 113,98,15,0.133 134,133,1,0.007 4.087 7.505 chr10 103546223 103546223 A G exonic MGEA5 synonymous SNV MGEA5:NM_001142434:exon15:c.T2577C:p.L859L,MGEA5:NM_012215:exon16:c.T2736C:p.L912L Score=708;Name=lod=1004 135 15 0.100 143 0 0.000 4.46515863782523291e-05 0.600 --- 123,109,14,0.114 127,127,0,0.000 4.485 10.271 chr10 103827276 103827276 G A exonic HPS6 nonsynonymous SNV HPS6:NM_024747:exon1:c.G2045A:p.R682H Score=422;Name=lod=69 0 0.999517 C 1.0 D 0.997 D 1.0 U 0.195925 N 4.52 164 35 0.176 187 0 0.000 1.89099440486593525e-11 0.429 --- 172,140,32,0.186 165,165,0,0.000 9.934 6.607 chr10 104128514 104128514 C T exonic GBF1 synonymous SNV GBF1:NM_001199378:exon23:c.C2898T:p.S966S,GBF1:NM_001199379:exon23:c.C2895T:p.S965S,GBF1:NM_004193:exon23:c.C2895T:p.S965S Score=683;Name=lod=797 0.000077 rs141570106 52 7 0.119 76 0 0.000 0.0024643745181832307 0.571 --- 49,43,6,0.122 58,58,0,0.000 2.111 4.992 chr10 104414965 104414965 C T exonic TRIM8 synonymous SNV TRIM8:NM_030912:exon3:c.C795T:p.N265N Score=612;Name=lod=410 0.000077 192 48 0.200 222 0 0.000 1.82631490738641492e-15 0.396 --- 195,154,40,0.206 179,179,0,0.000 12.281 12.036 chr10 104809541 104809541 G A exonic CNNM2 nonsynonymous SNV CNNM2:NM_017649:exon2:c.G1699A:p.V567I,CNNM2:NM_199076:exon2:c.G1699A:p.V567I Score=528;Name=lod=186 ID=COSM1201563;OCCURENCE=1(large_intestine) 0.16 75 16 0.176 122 0 0.000 5.40910362295918447e-07 0.500 --- 71,59,12,0.169 91,91,0,0.000 4.545 10.784 chr10 105207034 105207034 C T exonic CALHM2 nonsynonymous SNV CALHM2:NM_015916:exon4:c.G847A:p.G283S Score=295;Name=lod=21 0 0.998561 C 0.81 T 0.97 D 1.0 D 0.995571 D 5.02 149 32 0.177 175 0 0.000 1.18309477921588028e-10 0.531 --- 154,128,26,0.169 160,160,0,0.000 8.554 15.955 chr10 105349986 105349986 G A exonic NEURL nonsynonymous SNV NEURL:NM_004210:exon6:c.G1582A:p.A528T Score=721;Name=lod=1134 0.43 0.994272 C 0.63 T 0.0 B 0.999268 N 0.571431 D 3.13 175 27 0.134 176 0 0.000 3.1695325310526134e-08 0.630 --- 163,140,23,0.141 145,145,0,0.000 6.675 9.749 chr10 105377003 105377003 C T exonic SH3PXD2A nonsynonymous SNV SH3PXD2A:NM_014631:exon10:c.G787A:p.V263I Score=317;Name=lod=26 0 0.998881 C 0.85 T 0.63852 NA 1.0 D 0.705844 D 5.25 63 9 0.125 77 0 0.000 0.00109160821241095091 0.556 --- 54,47,7,0.130 62,62,0,0.000 2.420 8.576 chr10 105796339 105796339 G A exonic COL17A1 nonsynonymous SNV COL17A1:NM_000494:exon48:c.C3329T:p.P1110L Score=251;Name=lod=14 0.07 0.853792 N 0.83 T 0.92 D 0.988077 N 0.996549 D 0.881 118 15 0.113 165 0 0.000 3.49983600127185299e-06 0.533 --- 109,97,12,0.110 135,134,0,0.000 4.331 5.059 chr10 105820037 105820037 G T exonic COL17A1 synonymous SNV COL17A1:NM_000494:exon14:c.C981A:p.A327A 207 23 0.100 226 0 0.000 1.35844335186902872e-07 0.043 --- 213,190,23,0.108 194,194,0,0.000 6.685 4.461 chr10 107023130 107023130 T C exonic SORCS3 stoploss SORCS3:NM_014978:exon27:c.T3667C:p.X1223Q Score=613;Name=lod=413 0.58 0.998254 C 0.782115 NA 0.413973 NA 0.858824 NA 0.0 N 5.45 88 13 0.129 110 0 0.000 4.50985161009901292e-05 0.385 --- 82,71,11,0.134 93,92,0,0.000 3.759 9.156 chr10 112058499 112058499 G A exonic SMNDC1 nonsynonymous SNV SMNDC1:NM_005871:exon3:c.C170T:p.T57M Score=329;Name=lod=29 0.11 0.999748 C 0.89 T 0.159 P 0.999994 D 0.902411 D 5.55 72 8 0.100 129 0 0.000 0.000367665787242717748 0.500 --- 66,60,6,0.091 99,99,0,0.000 2.449 6.969 chr10 112269855 112269855 G T exonic DUSP5 nonsynonymous SNV DUSP5:NM_004419:exon4:c.G826T:p.A276S Score=649;Name=lod=578 0 0.999685 C 1.0 D 0.98 D 1.0 D 0.999988 D 5.39 191 50 0.207 250 0 0.000 1.96010289838233223e-17 0.500 --- 209,165,44,0.211 215,214,1,0.005 13.190 60 chr10 112838510 112838510 C T exonic ADRA2A synonymous SNV ADRA2A:NM_000681:exon1:c.C756T:p.D252D 64 15 0.190 79 0 0.000 2.93268341619902638e-05 0.333 --- 63,51,12,0.190 65,65,0,0.000 3.949 12.782 chr10 112838725 112838725 G A exonic ADRA2A nonsynonymous SNV ADRA2A:NM_000681:exon1:c.G971A:p.R324H 0.16 0.848305 N 0.88 T 0.29 P 2.77E-4 U 0.373603 N -0.506 115 23 0.167 163 0 0.000 5.51172631211639554e-09 0.739 --- 103,85,18,0.175 117,117,0,0.000 6.307 4.728 chr10 114298019 114298019 C T exonic VTI1A synonymous SNV VTI1A:NM_145206:exon5:c.C357T:p.L119L Score=817;Name=lod=2793 54 6 0.100 92 0 0.000 0.00322983037770361652 0.833 --- 58,52,6,0.103 81,80,0,0.000 2.327 6.044 chr10 114912186 114912186 C T exonic TCF7L2 nonsynonymous SNV TCF7L2:NM_001198530:exon9:c.C1085T:p.A362V,TCF7L2:NM_001146284:exon10:c.C1175T:p.A392V,TCF7L2:NM_001146285:exon10:c.C1187T:p.A396V,TCF7L2:NM_001146286:exon10:c.C1187T:p.A396V,TCF7L2:NM_001198525:exon10:c.C1202T:p.A401V,TCF7L2:NM_001198526:exon10:c.C1187T:p.A396V,TCF7L2:NM_001198527:exon10:c.C1175T:p.A392V,TCF7L2:NM_001198528:exon10:c.C1187T:p.A396V,TCF7L2:NM_001198529:exon10:c.C1187T:p.A396V,TCF7L2:NM_030756:exon10:c.C1187T:p.A396V,TCF7L2:NM_001146274:exon11:c.C1256T:p.A419V,TCF7L2:NM_001146283:exon11:c.C1328T:p.A443V,TCF7L2:NM_001198531:exon11:c.C1256T:p.A419V Score=673;Name=lod=725 ID=COSM170046,COSM170047;OCCURENCE=1(large_intestine) 0 0.998946 C 1.0 D 0.891 D 0.999997 D 0.0 N 5.31 69 22 0.242 121 0 0.000 1.61569391533548271e-09 0.455 --- 73,58,15,0.205 97,97,0,0.000 5.901 10.67 chr10 114920450 114920450 G T exonic TCF7L2 nonsynonymous SNV TCF7L2:NM_001198526:exon12:c.G1322T:p.R441M,TCF7L2:NM_001146274:exon13:c.G1391T:p.R464M Score=446;Name=lod=87 154 18 0.105 170 0 0.000 4.78784084416135673e-06 0.389 --- 137,121,16,0.117 130,130,0,0.000 4.684 9.618 chr10 117093922 117093922 G A exonic ATRNL1 synonymous SNV ATRNL1:NM_207303:exon19:c.G3168A:p.Q1056Q Score=436;Name=lod=79 75 10 0.118 76 0 0.000 0.00168423999945695071 0.300 --- 70,60,10,0.143 59,59,0,0.000 2.728 7.963 chr10 118236210 118236210 G T exonic PNLIPRP3 nonsynonymous SNV PNLIPRP3:NM_001011709:exon11:c.G1219T:p.D407Y Score=340;Name=lod=32 0 0.923797 N 0.98 D 0.606 P 0.748025 N 0.029119 N 2.38 93 21 0.184 100 0 0.000 7.3132732955477721e-07 0.571 --- 91,76,15,0.165 82,82,0,0.000 4.371 9.467 chr10 118351338 118351338 C T exonic PNLIPRP1 synonymous SNV PNLIPRP1:NM_006229:exon3:c.C105T:p.G35G Score=352;Name=lod=36 ID=COSM1474390;OCCURENCE=1(breast) 104 24 0.188 154 0 0.000 1.60237708113197283e-09 0.792 --- 106,84,22,0.208 110,110,0,0.000 7.338 12.12 chr10 120354681 120354681 C T exonic PRLHR nonsynonymous SNV PRLHR:NM_004248:exon2:c.G76A:p.A26T 0.06 0.997822 C 0.7 T 0.0 B 0.3266 N 0.004703 N 4.1 264 34 0.114 302 0 0.000 1.69819111759843989e-11 0.294 --- 254,222,31,0.123 267,267,0,0.000 10.136 12.371 chr10 122668188 122668188 A G exonic WDR11 nonsynonymous SNV WDR11:NM_018117:exon29:c.A3638G:p.E1213G Score=333;Name=lod=30 0.01 0.998809 C 0.96 D 0.631182 NA 1.0 D 0.403976 N 5.33 113 13 0.103 124 0 0.000 0.00017674008038507757 0.538 --- 101,89,12,0.119 99,99,0,0.000 3.460 3.886 chr10 123244913 123244913 C T exonic FGFR2 nonsynonymous SNV FGFR2:NM_001144914:exon13:c.G1855A:p.E619K,FGFR2:NM_001144916:exon13:c.G1846A:p.E616K,FGFR2:NM_001144917:exon14:c.G1843A:p.E615K,FGFR2:NM_001144918:exon14:c.G1840A:p.E614K,FGFR2:NM_023029:exon14:c.G1924A:p.E642K,FGFR2:NM_001144913:exon15:c.G2194A:p.E732K,FGFR2:NM_001144915:exon15:c.G1924A:p.E642K,FGFR2:NM_001144919:exon15:c.G1927A:p.E643K,FGFR2:NM_000141:exon16:c.G2191A:p.E731K,FGFR2:NM_022970:exon16:c.G2194A:p.E732K Score=524;Name=lod=179 0 0.998504 C 1.0 D 0.695 P 1.0 D 0.999992 D 4.98 137 18 0.116 151 0 0.000 4.62014098167123729e-06 0.667 --- 141,124,17,0.121 123,123,0,0.000 4.803 7.489 chr10 127464365 127464365 G T exonic MMP21 nonsynonymous SNV MMP21:NM_147191:exon1:c.C26A:p.P9Q 0.12 0.893102 N 0.85 T 0.135 B 0.986375 N 0.53834 NA -0.865 194 33 0.145 255 0 0.000 4.294956497805357e-12 0.394 --- 179,151,28,0.156 211,211,0,0.000 10.007 8.838 chr10 127526950 127526950 G A exonic DHX32 nonsynonymous SNV DHX32:NM_018180:exon10:c.C1888T:p.R630W Score=435;Name=lod=78 0.000077 0 0.984189 C 0.99 D 0.999 D 1.0 D 0.999974 D 3.54 93 18 0.162 144 0 0.000 1.35525243233768123e-07 0.111 --- 98,81,17,0.173 124,124,0,0.000 6.404 11.436 chr10 127668884 127668884 G A exonic FANK1 nonsynonymous SNV FANK1:NM_145235:exon2:c.G168A:p.M56I Score=479;Name=lod=118 0.19 0.999103 C 0.84 T 0.034 B 0.948653 N 0.041064 N 4.57 146 25 0.146 156 0 0.000 4.01468883099075795e-08 0.640 --- 141,119,22,0.156 133,132,0,0.000 6.604 11.229 chr10 127737914 127737914 G A exonic ADAM12 nonsynonymous SNV ADAM12:NM_003474:exon16:c.C1834T:p.R612W,ADAM12:NM_021641:exon16:c.C1834T:p.R612W Score=432;Name=lod=76 0 0.986969 C 1.0 D 0.996 D 0.993055 N 0.39965 N 1.66 208 40 0.161 258 0 0.000 7.1582815760071847e-14 0.375 --- 200,165,35,0.175 199,199,0,0.000 10.943 11.464 chr10 128114445 128114445 C T exonic C10orf90 synonymous SNV C10orf90:NM_001004298:exon9:c.G2088A:p.R696R Score=475;Name=lod=114 111 23 0.172 133 0 0.000 8.49476698055058771e-08 0.565 --- 109,91,18,0.165 111,111,0,0.000 5.825 6.425 chr10 129902516 129902516 T C exonic MKI67 nonsynonymous SNV MKI67:NM_001145966:exon12:c.A6508G:p.K2170E,MKI67:NM_002417:exon13:c.A7588G:p.K2530E 0.02 0.009953 N 0.97 D 0.244 P 0.574696 NA 0.016866 N -6.8 173 37 0.176 219 0 0.000 5.62999572401976476e-13 0.541 --- 171,139,32,0.187 184,184,0,0.000 10.871 60 chr10 129903109 129903109 G A exonic MKI67 nonsynonymous SNV MKI67:NM_001145966:exon12:c.C5915T:p.T1972M,MKI67:NM_002417:exon13:c.C6995T:p.T2332M 0.0005 rs182397079 0.19 0.052963 N 0.97 D 0.038 B 0.555699 N 0.01647 N -1.72 140 27 0.162 192 0 0.000 3.13288804865012663e-10 0.630 --- 134,110,24,0.179 170,170,0,0.000 9.086 12.664 chr10 131973131 131973131 T C exonic GLRX3 synonymous SNV GLRX3:NM_001199868:exon9:c.T825C:p.G275G,GLRX3:NM_006541:exon9:c.T825C:p.G275G Score=496;Name=lod=138 31 4 0.114 39 0 0.000 0.0455056638734045641 0.750 --- 30,27,3,0.100 37,36,0,0.000 1.052 4.465 chr10 134980935 134980935 C T exonic KNDC1 synonymous SNV KNDC1:NM_152643:exon2:c.C153T:p.S51S Score=585;Name=lod=317 172 26 0.131 204 0 0.000 4.13617608673576073e-09 0.500 --- 168,142,26,0.155 166,166,0,0.000 7.978 6.335 chr10 134981777 134981777 C T exonic KNDC1 synonymous SNV KNDC1:NM_152643:exon3:c.C321T:p.F107F Score=468;Name=lod=106 0.002691 0.0009 rs79557483 63 17 0.213 88 0 0.000 1.23286291358031172e-06 0.706 --- 65,52,13,0.200 68,68,0,0.000 4.337 60 chr10 135142417 135142417 C T exonic CALY nonsynonymous SNV CALY:NM_015722:exon2:c.G77A:p.S26N Score=451;Name=lod=91 0.12 0.957247 C 0.715113 NA 0.122 B 0.998978 N 0.052866 N 2.05 142 30 0.174 149 0 0.000 2.8231512761100852e-09 0.433 --- 129,105,24,0.186 116,116,0,0.000 7.147 7.894 chr10 135165855 135165855 G A exonic PRAP1 nonsynonymous SNV PRAP1:NM_001145201:exon5:c.G340A:p.E114K,PRAP1:NM_145202:exon5:c.G367A:p.E123K 0.000077 0.0005 rs202085021 0.03 0.053207 N 0.863061 NA 0.883 D 0.537118 N 0.144637 N -4.36 117 29 0.199 179 0 0.000 1.53377769028867602e-11 0.310 --- 121,96,25,0.207 138,138,0,0.000 8.901 14.398 chr10 135170718 135170718 A G exonic FUOM nonsynonymous SNV FUOM:NM_001098483:exon2:c.T127C:p.C43R,FUOM:NM_198472:exon2:c.T127C:p.C43R 0.23 0.120495 N 0.76829 NA 0.434562 NA 0.999715 D 0.472713 NA -0.836 75 22 0.227 79 0 0.000 7.35597375624849122e-07 0.227 --- 91,69,22,0.242 78,76,0,0.000 6.232 12.749 chr11 198474 198474 G A exonic ODF3 synonymous SNV ODF3:NM_053280:exon5:c.G423A:p.A141A Score=304;Name=lod=23 0.000077 ID=COSM1353100;OCCURENCE=1(large_intestine) rs137889280 192 46 0.193 249 0 0.000 4.23992046782831704e-16 0.543 --- 214,174,40,0.187 220,220,0,0.000 13.168 9.903 chr11 212677 212677 G A exonic RIC8A synonymous SNV RIC8A:NM_021932:exon7:c.G1146A:p.K382K Score=541;Name=lod=210 198 28 0.124 263 0 0.000 1.58049663585903754e-10 0.571 --- 206,182,24,0.117 225,225,0,0.000 8.017 10.513 chr11 375708 375708 G A exonic B4GALNT4 nonsynonymous SNV B4GALNT4:NM_178537:exon10:c.G920A:p.R307H 0.000077 0.54 0.059562 N 0.86 T 0.56 P 1.36E-4 N 0.00418 N -4.78 203 62 0.234 185 0 0.000 2.66503134591865799e-16 0.468 --- 222,170,52,0.234 163,163,0,0.000 13.500 60 chr11 397002 397002 C T exonic PKP3 synonymous SNV PKP3:NM_007183:exon3:c.C501T:p.R167R 139 29 0.173 154 0 0.000 1.91628890648647015e-09 0.448 --- 157,130,25,0.161 139,139,0,0.000 7.361 10.55 chr11 490067 490067 C T exonic PTDSS2 nonsynonymous SNV PTDSS2:NM_030783:exon11:c.C1300T:p.R434W Score=493;Name=lod=134 0 0.956251 C 0.99 D 0.999 D 0.999961 D 0.819696 D 2.14 135 32 0.192 141 0 0.000 7.6934440493119507e-10 0.344 --- 141,114,27,0.191 120,119,0,0.000 7.627 12.302 chr11 500549 500549 G A exonic RNH1 synonymous SNV RNH1:NM_203384:exon3:c.C207T:p.G69G,RNH1:NM_203385:exon3:c.C207T:p.G69G,RNH1:NM_203388:exon3:c.C207T:p.G69G,RNH1:NM_203389:exon3:c.C207T:p.G69G,RNH1:NM_002939:exon4:c.C207T:p.G69G,RNH1:NM_203383:exon4:c.C207T:p.G69G,RNH1:NM_203386:exon4:c.C207T:p.G69G,RNH1:NM_203387:exon4:c.C207T:p.G69G 0.000538 rs139682325 142 36 0.202 172 0 0.000 4.84209357055916847e-12 0.528 --- 136,110,26,0.191 134,134,0,0.000 8.095 13.506 chr11 792396 792396 G A exonic SLC25A22 nonsynonymous SNV SLC25A22:NM_001191060:exon8:c.C650T:p.P217L,SLC25A22:NM_001191061:exon8:c.C650T:p.P217L,SLC25A22:NM_024698:exon8:c.C650T:p.P217L 0.000077 0.0005 rs139555989 0.43 0.904727 N 0.7 T 0.053 B 0.991388 N 0.390552 N 0.551 257 68 0.209 271 0 0.000 4.02889936476606994e-20 0.529 --- 286,223,63,0.220 240,239,0,0.000 17.994 60 chr11 799430 799430 G A exonic PIDD synonymous SNV PIDD:NM_145886:exon16:c.C2610T:p.R870R,PIDD:NM_145887:exon16:c.C2559T:p.R853R rs61740097 201 44 0.180 188 0 0.000 2.3584738032532204e-12 0.432 --- 207,171,36,0.174 162,162,0,0.000 9.637 60 chr11 803440 803440 C T exonic PIDD nonsynonymous SNV PIDD:NM_145886:exon3:c.G443A:p.R148Q,PIDD:NM_145887:exon3:c.G443A:p.R148Q 0.04 0.221804 N 0.52 T 0.732 P 0.846897 N 0.002608 N 6.14E-4 125 40 0.242 129 0 0.000 1.4000057619652715e-11 0.450 --- 131,99,32,0.244 108,108,0,0.000 9.189 60 chr11 986944 986944 C T exonic AP2A2 synonymous SNV AP2A2:NM_001242837:exon9:c.C1125T:p.N375N,AP2A2:NM_012305:exon9:c.C1122T:p.N374N Score=463;Name=lod=102 0.000156 132 40 0.233 221 0 0.000 2.49716743170427963e-16 0.300 --- 150,116,34,0.227 192,192,0,0.000 13.194 60 chr11 1016080 1016080 G T exonic MUC6 nonsynonymous SNV MUC6:NM_005961:exon31:c.C6721A:p.L2241I 0.12 249 32 0.114 240 0 0.000 1.33488994194805579e-09 0.531 --- 238,209,28,0.118 208,207,1,0.005 6.675 7.972 chr11 1253392 1253392 T C splicing MUC5B NM_002458:exon15:c.1843+2T>C Score=472;Name=lod=111 107 21 0.164 129 0 0.000 1.79304621137067082e-07 0.238 --- 116,98,18,0.155 108,107,0,0.000 5.326 9.24 chr11 1267055 1267055 C T exonic MUC5B nonsynonymous SNV MUC5B:NM_002458:exon31:c.C8945T:p.T2982M Score=0.984354;Name=chr11:1267688 0.023574 0.02 rs182116486 369 56 0.132 480 0 0.000 5.309230088386103e-20 0.482 --- 360,309,49,0.137 403,402,0,0.000 16.829 4.203 chr11 1955842 1955842 C T exonic TNNT3 nonsynonymous SNV TNNT3:NM_001042780:exon12:c.C523T:p.R175C,TNNT3:NM_001042782:exon12:c.C523T:p.R175C,TNNT3:NM_001042781:exon13:c.C541T:p.R181C,TNNT3:NM_006757:exon13:c.C547T:p.R183C Score=431;Name=lod=75 0.01 0.867575 N 1.0 D 0.999 D 0.999997 D 0.999863 D 0.626 100 19 0.160 135 0 0.000 2.42167750646747823e-07 0.579 --- 103,87,16,0.155 124,123,0,0.000 5.758 8.425 chr11 2154294 2154294 G A exonic IGF2 nonsynonymous SNV IGF2:NM_000612:exon4:c.C466T:p.R156C,IGF2:NM_001007139:exon5:c.C466T:p.R156C,IGF2:NM_001127598:exon5:c.C634T:p.R212C Score=385;Name=lod=49 0 0.996493 C 1.0 D 0.998 D 0.999995 U 0.999148 D 2.48 145 32 0.181 166 0 0.000 1.58633993274081399e-10 0.562 --- 135,109,26,0.193 126,126,0,0.000 7.948 13.318 chr11 2156654 2156654 C T exonic IGF2 nonsynonymous SNV IGF2:NM_000612:exon2:c.G100A:p.G34S,IGF2:NM_001007139:exon3:c.G100A:p.G34S,IGF2:NM_001127598:exon3:c.G268A:p.G90S Score=605;Name=lod=384 0 0.994942 C 1.0 D 0.991 D 1.0 U 0.999711 D 2.77 105 26 0.198 177 0 0.000 4.60387805195688959e-11 0.615 --- 105,86,19,0.181 140,140,0,0.000 7.433 14.523 chr11 2909548 2909548 G T exonic SLC22A18AS synonymous SNV SLC22A18AS:NM_007105:exon4:c.C624A:p.G208G 123 16 0.115 104 0 0.000 0.000104890326073696892 0.625 --- 115,100,15,0.130 87,87,0,0.000 3.749 10.593 chr11 2937910 2937910 T G exonic SLC22A18 nonsynonymous SNV SLC22A18:NM_002555:exon6:c.T595G:p.F199V,SLC22A18:NM_183233:exon6:c.T595G:p.F199V Score=340;Name=lod=32 0.34 0.007345 N 0.62 T 0.0050 B 0.902025 N 0.200676 N -5.6 107 12 0.101 118 0 0.000 0.000364810186462647414 0.500 --- 100,89,10,0.101 94,94,0,0.000 2.802 5.264 chr11 3239568 3239568 T C exonic MRGPRG nonsynonymous SNV MRGPRG:NM_001164377:exon1:c.A476G:p.Y159C 0 186 51 0.215 233 0 0.000 4.72192596074606437e-17 0.608 --- 210,164,44,0.212 200,199,0,0.000 13.863 11.505 chr11 3688671 3688671 G A exonic CHRNA10 nonsynonymous SNV CHRNA10:NM_020402:exon4:c.C686T:p.T229M Score=658;Name=lod=629 0 0.999465 C 1.0 D 0.996 D 0.999987 D 0.99424 D 4.98 166 23 0.122 251 0 0.000 1.61210081260643268e-09 0.565 --- 179,154,25,0.140 226,225,0,0.000 9.273 10.98 chr11 4107945 4107945 C T exonic STIM1 synonymous SNV STIM1:NM_001277961:exon11:c.C1713T:p.T571T Score=656;Name=lod=617 280 42 0.130 353 0 0.000 7.08319629240801473e-15 0.619 --- 283,239,42,0.149 301,298,1,0.003 12.450 13.226 chr11 4567060 4567060 T C exonic OR52M1 nonsynonymous SNV OR52M1:NM_001004137:exon1:c.T640C:p.S214P 0.04 0.971492 C 0.95 T 0.995 D 0.999201 N 0.246244 N 3.64 159 24 0.131 206 0 0.000 5.88277373810041885e-09 0.500 --- 154,134,20,0.130 167,167,0,0.000 6.677 11.562 chr11 4790306 4790306 A G exonic OR51F1 nonsynonymous SNV OR51F1:NM_001004752:exon1:c.T842C:p.V281A 0.2 0.999023 C 0.87 T 0.0060 B 0.952593 N 0.032806 N 5.0 106 13 0.109 152 0 0.000 1.53210378508115798e-05 0.769 --- 97,85,12,0.124 115,115,0,0.000 4.245 8.879 chr11 4869989 4869989 G A exonic OR51S1 synonymous SNV OR51S1:NM_001004758:exon1:c.C450T:p.S150S 139 17 0.109 207 0 0.000 3.44525652031885598e-07 0.412 --- 132,117,15,0.114 179,178,0,0.000 5.771 5.633 chr11 4929016 4929016 C T exonic OR51A7 synonymous SNV OR51A7:NM_001004749:exon1:c.C417T:p.N139N 77 22 0.222 144 0 0.000 5.62784387848405318e-10 0.455 --- 91,72,19,0.209 117,117,0,0.000 7.331 60 chr11 5020780 5020780 T A exonic OR51L1 nonsynonymous SNV OR51L1:NM_001004755:exon1:c.T568A:p.S190T 0 0.888578 N 0.99 D 0.948 D 0.955918 N 3.51E-4 N 1.62 125 24 0.161 136 0 0.000 7.25192186951565671e-08 0.542 --- 128,107,21,0.164 110,110,0,0.000 5.727 13.354 chr11 5373546 5373546 T C exonic OR51B6 nonsynonymous SNV OR51B6:NM_001004750:exon1:c.T809C:p.V270A 0.07 0.997188 C 0.94 T 0.065 B 0.997374 N 0.011634 N 4.42 77 9 0.105 116 0 0.000 0.000357051596765858586 0.444 --- 71,64,7,0.099 103,103,0,0.000 2.805 9.293 chr11 5444040 5444040 C A exonic OR51Q1 nonsynonymous SNV OR51Q1:NM_001004757:exon1:c.C610A:p.L204I 0.31 0.91331 N 0.57 T 0.035 B 0.996187 N 6.43E-4 N 1.2 111 27 0.196 165 0 0.000 1.29781463040422361e-10 0.259 --- 124,98,26,0.210 141,140,1,0.007 8.037 13.467 chr11 5537181 5537181 A G exonic UBQLNL nonsynonymous SNV UBQLNL:NM_145053:exon1:c.T491C:p.L164S 0.02 0.904946 N 0.88 T 0.486 P 0.539865 N 0.001762 N 1.29 226 45 0.166 309 0 0.000 1.61837690391151658e-16 0.533 --- 221,182,38,0.173 251,251,0,0.000 13.371 13.699 chr11 5602150 5602150 C T exonic OR52B6 nonsynonymous SNV OR52B6:NM_001005162:exon1:c.C44T:p.S15F 0.08 0.95214 C 0.47 T 0.0 B 0.845269 NA 0.055992 N 1.35 103 12 0.104 118 0 0.000 0.000153886540015140418 0.667 --- 94,85,9,0.096 96,96,0,0.000 2.839 8.582 chr11 5776204 5776204 T C exonic OR52N4 synonymous SNV OR52N4:NM_001005175:exon1:c.T234C:p.S78S 150 20 0.118 171 0 0.000 4.96057850203424678e-07 0.700 --- 147,129,17,0.116 147,147,0,0.000 5.358 15.109 chr11 5809938 5809938 A G exonic OR52N1 nonsynonymous SNV OR52N1:NM_001001913:exon1:c.T109C:p.Y37H Score=329;Name=lod=29 0.01 0.997963 C 1.0 D 0.999 D 0.999813 D 0.050901 N 3.74 124 18 0.127 206 0 0.000 4.99515031969208143e-08 0.389 --- 125,111,13,0.105 175,175,0,0.000 5.137 11.005 chr11 6231842 6231842 C T exonic C11orf42 stopgain C11orf42:NM_173525:exon2:c.C835T:p.R279X Score=556;Name=lod=243 ID=COSM1197913;OCCURENCE=1(large_intestine) 1 0.984796 C 0.902726 NA 0.732267 NA 0.995506 N 0.999999 D 3.67 173 30 0.148 241 0 0.000 1.81689986215747687e-11 0.300 --- 180,154,26,0.144 206,205,0,0.000 9.034 8.669 chr11 6262839 6262839 C T exonic CNGA4 nonsynonymous SNV CNGA4:NM_001037329:exon5:c.C1096T:p.P366S Score=632;Name=lod=494 0.13 0.999005 C 0.7 T 0.999 D 1.0 D 0.479284 N 4.84 159 22 0.122 223 0 0.000 1.00872231676693209e-08 0.409 --- 157,136,21,0.134 179,179,0,0.000 7.270 10.741 chr11 6477354 6477354 G A exonic TRIM3 nonsynonymous SNV TRIM3:NM_001248007:exon6:c.C1124T:p.A375V,TRIM3:NM_001248006:exon7:c.C1481T:p.A494V,TRIM3:NM_033278:exon7:c.C1481T:p.A494V,TRIM3:NM_006458:exon8:c.C1481T:p.A494V Score=585;Name=lod=318 0.01 0.999593 C 0.92 T 0.065 B 0.999958 D 0.530597 D 5.19 133 30 0.184 172 0 0.000 9.10978137707555511e-11 0.633 --- 143,115,28,0.196 145,145,0,0.000 9.154 10.765 chr11 6478973 6478973 C T exonic TRIM3 synonymous SNV TRIM3:NM_001248007:exon3:c.G111A:p.E37E,TRIM3:NM_001248006:exon4:c.G468A:p.E156E,TRIM3:NM_033278:exon4:c.G468A:p.E156E,TRIM3:NM_006458:exon5:c.G468A:p.E156E Score=538;Name=lod=204 209 52 0.199 266 0 0.000 7.82583340934915685e-18 0.462 --- 214,171,43,0.201 209,209,0,0.000 13.611 13.129 chr11 6631789 6631789 C T exonic ILK stopgain ILK:NM_001014795:exon12:c.C1306T:p.R436X,ILK:NM_001014794:exon13:c.C1306T:p.R436X,ILK:NM_004517:exon13:c.C1306T:p.R436X Score=701;Name=lod=942 1 0.999065 C 0.903792 NA 0.735402 NA 1.0 D 0.999986 D 3.73 112 28 0.200 141 0 0.000 7.4840064711812764e-10 0.357 --- 125,102,23,0.184 107,107,0,0.000 6.405 13.77 chr11 6789589 6789589 G A exonic OR2AG2 synonymous SNV OR2AG2:NM_001004490:exon1:c.C600T:p.Y200Y ID=COSM1475827;OCCURENCE=1(breast) 161 18 0.101 148 0 0.000 2.18720382359285333e-05 0.333 --- 144,130,14,0.097 130,130,0,0.000 3.961 8.449 chr11 6891549 6891549 C T exonic OR10A2 synonymous SNV OR10A2:NM_001004460:exon1:c.C564T:p.V188V Score=0.944343;Name=chr11:6866790 166 35 0.174 242 0 0.000 1.66188894394679115e-13 0.343 --- 172,143,29,0.169 194,194,0,0.000 10.103 12.412 chr11 6977662 6977662 C T exonic ZNF215 nonsynonymous SNV ZNF215:NM_013250:exon7:c.C1454T:p.T485M Score=444;Name=lod=85 0.01 0.998881 C 1.0 D 0.966 D 0.999722 D 0.007819 N 4.17 168 42 0.200 260 0 0.000 1.63728734757019391e-16 0.405 --- 181,143,37,0.206 221,220,0,0.000 13.813 11.5 chr11 7064665 7064665 G A exonic NLRP14 nonsynonymous SNV NLRP14:NM_176822:exon4:c.G1408A:p.A470T ID=COSM1259218;OCCURENCE=1(oesophagus) 1 0.067293 N 0.0 T 0.0 B 0.281567 N 1.39E-4 N -3.5 101 17 0.144 130 0 0.000 1.71509508727031218e-06 0.529 --- 99,84,15,0.152 119,118,0,0.000 5.382 10.56 chr11 7324467 7324467 T A exonic SYT9 nonsynonymous SNV SYT9:NM_175733:exon2:c.T343A:p.F115I Score=626;Name=lod=467 0.37 0.998329 C 0.42 T 0.648 P 0.99997 D 0.474854 N 5.5 156 21 0.119 238 0 0.000 8.23204216925821371e-09 0.524 --- 159,142,17,0.107 202,202,0,0.000 6.273 9.068 chr11 8717972 8717972 A G splicing ST5 NM_139157:exon18:c.2032+2T>C,NM_005418:exon22:c.3292+2T>C,NM_213618:exon19:c.3292+2T>C Score=715;Name=lod=1078 139 31 0.182 152 0 0.000 1.18024340165109826e-09 0.742 --- 142,115,27,0.190 126,126,0,0.000 7.995 11.777 chr11 8942943 8942943 G A exonic C11orf16 nonsynonymous SNV C11orf16:NM_020643:exon6:c.C1324T:p.R442W 0.01 0.954294 C 0.99 D 0.025 B 0.703829 N 0.003398 N 1.23 135 27 0.167 186 0 0.000 3.06852525521473824e-10 0.481 --- 130,110,20,0.154 147,147,0,0.000 6.935 15.109 chr11 10655577 10655577 C T exonic MRVI1 synonymous SNV MRVI1:NM_001098579:exon2:c.G240A:p.T80T,MRVI1:NM_001206880:exon3:c.G267A:p.T89T,MRVI1:NM_130385:exon3:c.G267A:p.T89T 78 13 0.143 102 0 0.000 3.50071071627891848e-05 0.308 --- 72,61,11,0.153 79,79,0,0.000 3.725 7.305 chr11 14280942 14280942 G A exonic SPON1 unknown UNKNOWN Score=444;Name=lod=85 0.26 209 39 0.157 240 0 0.000 8.68529980262990633e-13 0.692 --- 213,178,35,0.164 202,202,0,0.000 10.729 60 chr11 14535188 14535188 C A exonic PSMA1 nonsynonymous SNV PSMA1:NM_002786:exon7:c.G472T:p.A158S,PSMA1:NM_148976:exon8:c.G490T:p.A164S Score=644;Name=lod=554 0.06 0.999182 C 0.96 D 0.047 B 1.0 D 0.969579 D 5.55 109 26 0.193 180 0 0.000 5.95547292212883383e-11 0.500 --- 123,103,20,0.163 151,151,0,0.000 7.358 9.117 chr11 14854368 14854368 G A exonic PDE3B nonsynonymous SNV PDE3B:NM_000922:exon10:c.G2195A:p.R732Q Score=667;Name=lod=687 0.02 0.999556 C 0.96 D 0.695 P 0.999578 D 0.899421 D 5.12 29 5 0.147 54 0 0.000 0.00710276091190285255 0.200 --- 30,26,4,0.133 45,45,0,0.000 1.647 4.796 chr11 17464336 17464336 G A exonic ABCC8 nonsynonymous SNV ABCC8:NM_000352:exon10:c.C1561T:p.R521W ID=COSM291779;OCCURENCE=1(large_intestine) 0.02 0.915478 N 0.98 D 0.967 D 0.999985 D 0.654815 D 1.65 129 32 0.199 181 0 0.000 5.55688320272873508e-12 0.594 --- 127,104,23,0.181 152,151,0,0.000 8.341 9.38 chr11 17532052 17532052 C T exonic USH1C nonsynonymous SNV USH1C:NM_153676:exon17:c.G1430A:p.R477Q Score=618;Name=lod=432 0.000385 0.0005 rs146333270 0 0.999206 C 1.0 D 0.998 D 0.985965 N 0.025754 N 5.57 66 13 0.165 65 0 0.000 0.000266456188926783268 0.308 --- 61,50,11,0.180 55,55,0,0.000 3.165 6.381 chr11 17667399 17667399 C T exonic OTOG nonsynonymous SNV OTOG:NM_001277269:exon55:c.C8686T:p.R2896W Score=503;Name=lod=148 0.02 178 25 0.123 245 0 0.000 1.07748031188254e-09 0.520 --- 158,138,20,0.127 205,205,0,0.000 7.539 14.449 chr11 17741825 17741825 G A exonic MYOD1 nonsynonymous SNV MYOD1:NM_002478:exon1:c.G496A:p.D166N Score=443;Name=lod=84 0.13 0.999311 C 0.69 T 0.98 D 0.999938 D 0.110813 N 4.27 240 38 0.137 294 0 0.000 3.07065708417235467e-13 0.474 --- 242,209,31,0.129 250,250,0,0.000 10.068 60 chr11 17742526 17742526 C T exonic MYOD1 synonymous SNV MYOD1:NM_002478:exon2:c.C708T:p.S236S Score=420;Name=lod=68 134 24 0.152 169 0 0.000 9.88483439295278231e-09 0.500 --- 134,114,20,0.149 133,133,0,0.000 6.052 10.409 chr11 17742975 17742975 G A exonic MYOD1 nonsynonymous SNV MYOD1:NM_002478:exon3:c.G883A:p.G295S 0.93 0.84225 N 0.0 T 0.968 D 0.099511 N 0.056819 N 1.64 267 54 0.168 334 0 0.000 1.5718475785113038e-18 0.426 --- 268,226,42,0.157 272,272,0,0.000 13.541 12.216 chr11 17757777 17757777 G A exonic KCNC1 synonymous SNV KCNC1:NM_001112741:exon1:c.G228A:p.L76L,KCNC1:NM_004976:exon1:c.G228A:p.L76L Score=689;Name=lod=840 277 32 0.104 299 0 0.000 2.26933019010767079e-10 0.406 --- 274,244,30,0.109 264,264,0,0.000 9.033 5.154 chr11 18253104 18253104 C T exonic SAA2-SAA4,SAA4 nonsynonymous SNV SAA4:NM_006512:exon4:c.G338A:p.R113Q,SAA2-SAA4:NM_001199744:exon6:c.G572A:p.R191Q Score=393;Name=lod=53 0.002157 0.0005 rs72881547 0.04 0.216755 N 0.96 D 0.998 D 0.804649 NA 0.952125 D 0.222 160 30 0.158 239 0 0.000 6.15941160361408431e-12 0.500 --- 158,133,24,0.153 193,193,0,0.000 8.810 7.605 chr11 18503317 18503317 C T exonic TSG101 nonsynonymous SNV TSG101:NM_006292:exon9:c.G943A:p.D315N Score=749;Name=lod=1470 rs201826521 0 0.999243 C 1.0 D 0.999 D 1.0 D 0.999657 D 5.62 132 19 0.126 170 0 0.000 3.1598506118353288e-07 0.421 --- 126,106,20,0.159 145,145,0,0.000 7.031 8.569 chr11 18636324 18636324 T C exonic SPTY2D1 synonymous SNV SPTY2D1:NM_194285:exon3:c.A1497G:p.S499S 194 46 0.192 285 0 0.000 1.73981378258137916e-17 0.457 --- 202,163,39,0.193 237,236,0,0.000 14.057 60 chr11 18759447 18759447 C T exonic PTPN5 nonsynonymous SNV PTPN5:NM_001039970:exon9:c.G884A:p.R295Q,PTPN5:NM_006906:exon9:c.G980A:p.R327Q,PTPN5:NM_032781:exon9:c.G980A:p.R327Q Score=582;Name=lod=309 0.0014 rs141743674 0 0.998375 C 1.0 D 0.999 D 0.999999 D 0.999752 D 4.9 86 18 0.173 93 0 0.000 5.26080418340019366e-06 0.556 --- 88,74,14,0.159 73,73,0,0.000 3.870 7.53 chr11 18955940 18955940 C T exonic MRGPRX1 nonsynonymous SNV MRGPRX1:NM_147199:exon1:c.G392A:p.R131H 0.37 0.135198 N 0.65 T 0.016 B 0.999496 N 0.0224 N -1.78 247 30 0.108 322 0 0.000 3.67014303248964586e-11 0.433 --- 245,219,26,0.106 272,272,0,0.000 8.752 6.523 chr11 19209709 19209709 G A exonic CSRP3 synonymous SNV CSRP3:NM_003476:exon4:c.C255T:p.G85G 109 38 0.259 169 0 0.000 1.24896189971288139e-14 0.526 --- 126,95,31,0.246 142,142,0,0.000 11.127 12.769 chr11 20515485 20515485 T C exonic PRMT3 synonymous SNV PRMT3:NM_001145166:exon12:c.T1182C:p.D394D,PRMT3:NM_001145167:exon13:c.T1137C:p.D379D,PRMT3:NM_005788:exon14:c.T1368C:p.D456D Score=541;Name=lod=211 53 10 0.159 60 0 0.000 0.00135449906743435368 0.500 --- 53,44,9,0.170 49,49,0,0.000 2.548 5.205 chr11 20968963 20968963 T C exonic NELL1 nonsynonymous SNV NELL1:NM_006157:exon11:c.T1153C:p.C385R,NELL1:NM_201551:exon11:c.T1153C:p.C385R Score=466;Name=lod=104 0 0.998767 C 1.0 D 0.999 D 1.0 D 0.999728 D 5.82 65 8 0.110 64 0 0.000 0.00714932907792708335 0.500 --- 59,51,8,0.136 53,53,0,0.000 2.185 4.788 chr11 26584679 26584679 G A exonic MUC15 synonymous SNV MUC15:NM_145650:exon3:c.C828T:p.D276D,MUC15:NM_001135091:exon4:c.C909T:p.D303D Score=502;Name=lod=146 ID=COSM39735;OCCURENCE=1(ovary),1(central_nervous_system) 21 8 0.276 32 0 0.000 0.00145751987637891617 0.750 --- 28,21,7,0.250 28,28,0,0.000 1.991 8.857 chr11 27679917 27679917 G A exonic BDNF synonymous SNV BDNF:NM_170735:exon1:c.C195T:p.H65H,BDNF:NM_001143805:exon2:c.C195T:p.H65H,BDNF:NM_001143806:exon2:c.C195T:p.H65H,BDNF:NM_001143807:exon2:c.C195T:p.H65H,BDNF:NM_001143808:exon2:c.C195T:p.H65H,BDNF:NM_001143809:exon2:c.C282T:p.H94H,BDNF:NM_001143812:exon2:c.C195T:p.H65H,BDNF:NM_001143813:exon2:c.C195T:p.H65H,BDNF:NM_001143816:exon2:c.C195T:p.H65H,BDNF:NM_001709:exon2:c.C195T:p.H65H,BDNF:NM_170731:exon2:c.C219T:p.H73H,BDNF:NM_170732:exon2:c.C195T:p.H65H,BDNF:NM_170733:exon2:c.C195T:p.H65H,BDNF:NM_170734:exon2:c.C240T:p.H80H,BDNF:NM_001143810:exon3:c.C441T:p.H147H,BDNF:NM_001143814:exon3:c.C195T:p.H65H,BDNF:NM_001143811:exon4:c.C195T:p.H65H Score=592;Name=lod=340 223 41 0.155 351 0 0.000 1.28922639243960086e-16 0.488 --- 227,188,38,0.168 283,282,0,0.000 14.183 14.875 chr11 32456440 32456440 G A exonic WT1 nonsynonymous SNV WT1:NM_000378:exon1:c.C452T:p.P151L,WT1:NM_024424:exon1:c.C452T:p.P151L,WT1:NM_024426:exon1:c.C452T:p.P151L Score=617;Name=lod=429 0.07 0.995023 C 0.91 T 0.19 P 0.999999 U 0.993749 D 2.79 337 40 0.106 425 0 0.000 2.42378577017895976e-14 0.225 --- 327,293,34,0.104 368,367,0,0.000 11.527 9.797 chr11 33106767 33106767 C T exonic CSTF3 nonsynonymous SNV CSTF3:NM_001326:exon21:c.G2020A:p.V674M Score=374;Name=lod=44 0.16 0.999277 C 0.85 T 0.0 B 1.0 D 0.999947 D 5.66 123 21 0.146 163 0 0.000 5.4185442439227485e-08 0.333 --- 117,99,18,0.154 130,130,0,0.000 6.164 10.027 chr11 33763580 33763580 T C exonic FBXO3 synonymous SNV FBXO3:NM_012175:exon11:c.A1290G:p.E430E Score=531;Name=lod=192 80 19 0.192 118 0 0.000 1.18832503667380403e-07 0.368 --- 89,73,15,0.170 101,100,0,0.000 5.245 11.463 chr11 34139805 34139805 C T exonic NAT10 synonymous SNV NAT10:NM_001144030:exon5:c.C420T:p.H140H,NAT10:NM_024662:exon7:c.C636T:p.H212H 0.000077 102 33 0.244 128 0 0.000 3.57232441671179017e-11 0.606 --- 106,82,24,0.226 97,97,0,0.000 7.346 60 chr11 34186852 34186852 C T exonic ABTB2 nonsynonymous SNV ABTB2:NM_145804:exon8:c.G1807A:p.E603K Score=414;Name=lod=64 0.000154 0.01 0.998933 C 0.99 D 0.101 B 0.999989 D 0.877069 D 5.3 94 25 0.210 147 0 0.000 3.92078086851298276e-10 0.400 --- 95,73,22,0.232 115,115,0,0.000 8.230 9.279 chr11 34515069 34515069 G A exonic ELF5 synonymous SNV ELF5:NM_001422:exon3:c.C312T:p.C104C,ELF5:NM_198381:exon3:c.C342T:p.C114C Score=488;Name=lod=128 148 33 0.182 206 0 0.000 2.33570601975847636e-12 0.606 --- 153,126,27,0.176 166,165,0,0.000 9.145 10.643 chr11 34668028 34668028 C A exonic EHF nonsynonymous SNV EHF:NM_001206615:exon3:c.C140A:p.P47H,EHF:NM_001206616:exon3:c.C206A:p.P69H,EHF:NM_012153:exon3:c.C140A:p.P47H Score=704;Name=lod=966 0 0.998201 C 1.0 D 1.0 D 0.999998 D 0.999984 D 4.81 195 42 0.177 251 0 0.000 8.62722483183725938e-15 0.667 --- 201,161,40,0.199 211,211,0,0.000 13.426 7.492 chr11 36511576 36511576 G A exonic TRAF6 stopgain TRAF6:NM_004620:exon7:c.C1381T:p.R461X,TRAF6:NM_145803:exon8:c.C1381T:p.R461X Score=653;Name=lod=600 Score=0.959596;Name=chr10:60896000 1 0.948717 N 0.899772 NA 0.727126 NA 1.0 D 1.0 D 1.54 226 47 0.172 296 0 0.000 1.07473839128990442e-16 0.426 --- 228,189,39,0.171 247,246,0,0.000 13.196 10.824 chr11 36512113 36512113 C T exonic TRAF6 nonsynonymous SNV TRAF6:NM_004620:exon7:c.G844A:p.V282I,TRAF6:NM_145803:exon8:c.G844A:p.V282I Score=0.959596;Name=chr10:60896000 0.000077 0.65 0.958412 C 0.61 T 0.0 B 0.034976 N 1.0E-6 N 2.07 162 32 0.165 201 1 0.005 6.05004923541759218e-10 0.375 0.000 160,131,27,0.171 161,160,1,0.006 7.548 5.175 chr11 44069597 44069597 G A exonic ACCSL nonsynonymous SNV ACCSL:NM_001031854:exon1:c.G11A:p.R4Q 0.000164 0.37 0.005128 N 1.0 D 0.01 B 0.017253 N 8.1E-5 N -6.68 151 39 0.205 211 0 0.000 2.27460088889518177e-14 0.795 --- 162,129,33,0.204 179,179,0,0.000 11.493 60 chr11 44102739 44102739 T C exonic ACCS nonsynonymous SNV ACCS:NM_001127219:exon12:c.T980C:p.M327T,ACCS:NM_032592:exon12:c.T980C:p.M327T Score=496;Name=lod=138 0.01 0.996386 C 0.84 T 0.836 P 0.999996 D 0.251245 N 4.67 164 30 0.155 273 0 0.000 8.72130896530125689e-13 0.567 --- 175,150,25,0.143 238,238,0,0.000 9.783 60 chr11 44129705 44129705 A T exonic EXT2 nonsynonymous SNV EXT2:NM_000401:exon2:c.A542T:p.N181I,EXT2:NM_001178083:exon2:c.A443T:p.N148I,EXT2:NM_207122:exon2:c.A443T:p.N148I 0.02 1.32E-4 N 0.97 D 0.61 P 0.986671 N 0.981587 D -9.39 143 28 0.164 223 0 0.000 1.82236526669010844e-11 0.393 --- 149,126,23,0.154 184,184,0,0.000 8.473 60 chr11 44130823 44130823 C A exonic EXT2 nonsynonymous SNV EXT2:NM_000401:exon3:c.C715A:p.P239T,EXT2:NM_001178083:exon3:c.C616A:p.P206T,EXT2:NM_207122:exon3:c.C616A:p.P206T Score=532;Name=lod=193 0.13 0.998984 C 0.85 T 0.337 P 0.999916 D 0.999859 D 5.34 88 13 0.129 125 0 0.000 1.80029493762225994e-05 0.385 --- 76,67,9,0.118 99,99,0,0.000 3.383 7.788 chr11 45924061 45924061 C T exonic MAPK8IP1 nonsynonymous SNV MAPK8IP1:NM_005456:exon5:c.C743T:p.P248L Score=265;Name=lod=16 0.01 0.971948 C 1.0 D 0.544 P 0.843196 N 0.086375 N 2.75 188 50 0.210 240 0 0.000 4.00151609123400899e-17 0.560 --- 212,167,45,0.212 207,207,0,0.000 14.323 60 chr11 47196622 47196622 C T exonic ARFGAP2 nonsynonymous SNV ARFGAP2:NM_032389:exon5:c.G424A:p.V142I rs113294444 0.32 0.865113 N 0.6 T 0.0010 B 0.624485 U 0.0 N 0.185 163 27 0.142 165 0 0.000 2.99585834417123212e-08 0.519 --- 169,144,25,0.148 142,142,0,0.000 6.880 10.815 chr11 47595124 47595124 G A exonic KBTBD4 synonymous SNV KBTBD4:NM_016506:exon4:c.C915T:p.T305T,KBTBD4:NM_018095:exon4:c.C963T:p.T321T 143 19 0.117 197 0 0.000 1.47082643489092769e-07 0.526 --- 138,123,15,0.109 166,166,0,0.000 5.335 9.834 chr11 47611976 47611976 G A exonic C1QTNF4 synonymous SNV C1QTNF4:NM_031909:exon2:c.C387T:p.G129G Score=676;Name=lod=743 161 34 0.174 188 0 0.000 2.87697139695395034e-11 0.735 --- 156,130,26,0.167 159,158,0,0.000 8.395 9.553 chr11 48286017 48286017 G A exonic OR4X1 nonsynonymous SNV OR4X1:NM_001004726:exon1:c.G605A:p.G202D 0 0.999465 C 1.0 D 0.997 D 0.881357 NA 0.006423 N 4.97 129 27 0.173 190 0 0.000 1.18535233664402297e-10 0.519 --- 130,107,23,0.177 157,157,0,0.000 8.416 60 chr11 55419042 55419042 T A exonic OR4S2 synonymous SNV OR4S2:NM_001004059:exon1:c.T663A:p.V221V 42 19 0.311 66 0 0.000 1.58845460123687953e-07 0.526 --- 53,35,18,0.340 61,61,0,0.000 6.792 14.507 chr11 55579141 55579141 T A exonic OR5L1 nonsynonymous SNV OR5L1:NM_001004738:exon1:c.T199A:p.S67T 0 0.918909 N 1.0 D 0.987 D 0.999913 D 0.024419 N 2.95 192 42 0.179 253 0 0.000 5.24350297274462381e-15 0.405 --- 204,167,37,0.181 213,213,0,0.000 12.285 10.969 chr11 55579551 55579551 C T exonic OR5L1 synonymous SNV OR5L1:NM_001004738:exon1:c.C609T:p.A203A 125 20 0.138 190 0 0.000 2.4057559954947847e-08 0.500 --- 126,110,15,0.120 159,159,0,0.000 5.563 12.269 chr11 56431490 56431490 C T exonic OR5AR1 nonsynonymous SNV OR5AR1:NM_001004730:exon1:c.C329T:p.A110V 0.71 0.998476 C 0.57 T 0.873 D 0.999795 D 0.07074 N 4.44 110 14 0.113 121 0 0.000 8.36341526039688514e-05 0.357 --- 112,98,13,0.117 110,110,0,0.000 3.774 9.291 chr11 56510862 56510862 A G exonic OR9G4 synonymous SNV OR9G4:NM_001005284:exon1:c.T426C:p.C142C 130 24 0.156 169 0 0.000 6.8994493400356225e-09 0.625 --- 127,107,20,0.157 144,144,0,0.000 6.957 14.699 chr11 57191486 57191486 G A exonic SLC43A3 synonymous SNV SLC43A3:NM_014096:exon5:c.C330T:p.T110T,SLC43A3:NM_017611:exon5:c.C330T:p.T110T,SLC43A3:NM_199329:exon5:c.C330T:p.T110T 87 15 0.147 90 0 0.000 5.09188503547474849e-05 0.400 --- 82,68,12,0.150 74,74,0,0.000 3.464 6.959 chr11 57314081 57314081 C T exonic SMTNL1 synonymous SNV SMTNL1:NM_001105565:exon6:c.C1296T:p.P432P 130 32 0.198 165 0 0.000 3.12288597235706931e-11 0.469 --- 134,106,28,0.209 129,129,0,0.000 8.756 11.097 chr11 57466463 57466463 G A exonic ZDHHC5 nonsynonymous SNV ZDHHC5:NM_015457:exon11:c.G1555A:p.V519M Score=451;Name=lod=91 0.05 0.99238 C 0.93 T 0.0010 B 0.920597 N 6.18E-4 N 3.76 249 71 0.222 280 0 0.000 7.71716653615960903e-22 0.465 --- 277,216,61,0.220 242,242,0,0.000 18.009 60 chr11 57569670 57569670 T C splicing CTNND1 NM_001085468:exon5:c.1117+2T>C,NM_001085467:exon5:c.1117+2T>C,NM_001206884:exon6:c.1258+2T>C,NM_001331:exon7:c.1420+2T>C,NM_001085458:exon7:c.1420+2T>C,NM_001206888:exon6:c.1258+2T>C,NM_001085459:exon7:c.1420+2T>C,NM_001206891:exon7:c.1258+2T>C,NM_001206883:exon6:c.1258+2T>C,NM_001085460:exon7:c.1420+2T>C,NM_001085465:exon5:c.1117+2T>C,NM_001206887:exon6:c.1258+2T>C,NM_001206889:exon7:c.1258+2T>C,NM_001085461:exon7:c.1420+2T>C,NM_001085469:exon4:c.1117+2T>C,NM_001085466:exon5:c.1117+2T>C,NM_001206890:exon5:c.1117+2T>C,NM_001206885:exon7:c.1420+2T>C,NM_001206886:exon6:c.1258+2T>C,NM_001085464:exon5:c.1117+2T>C,NM_001085463:exon5:c.1117+2T>C,NM_001085462:exon6:c.1420+2T>C Score=487;Name=lod=127 85 13 0.133 128 0 0.000 1.18546153780327822e-05 0.385 --- 87,77,8,0.094 114,113,0,0.000 3.023 9.616 chr11 58715436 58715436 C A exonic GLYATL1 nonsynonymous SNV GLYATL1:NM_001220496:exon4:c.C184A:p.Q62K,GLYATL1:NM_080661:exon4:c.C277A:p.Q93K,GLYATL1:NM_001220494:exon5:c.C184A:p.Q62K 0.01 0.904067 N 0.95 T 0.937 D 0.92355 U 0.114153 N 1.71 88 14 0.137 71 0 0.000 0.000456527455333774425 0.357 --- 79,69,10,0.127 56,56,0,0.000 2.278 8.852 chr11 58949520 58949520 T C exonic DTX4 nonsynonymous SNV DTX4:NM_015177:exon2:c.T520C:p.W174R Score=446;Name=lod=87 0.01 219 41 0.158 303 0 0.000 2.78234031348958521e-15 0.512 --- 221,181,37,0.170 265,265,0,0.000 13.576 11.618 chr11 59419060 59419060 C T exonic PATL1 nonsynonymous SNV PATL1:NM_152716:exon12:c.G1481A:p.R494Q Score=660;Name=lod=641 0 70 15 0.176 71 0 0.000 6.27899907816908857e-05 0.467 --- 70,57,12,0.174 57,57,0,0.000 3.311 4.228 chr11 60230501 60230501 C G exonic MS4A1 nonsynonymous SNV MS4A1:NM_021950:exon3:c.C186G:p.F62L,MS4A1:NM_152866:exon4:c.C186G:p.F62L Score=449;Name=lod=89 0.67 0.986069 C 0.0 T 0.314 P 0.99774 N 0.533335 D 4.6 123 15 0.109 147 0 0.000 1.24634406240467417e-05 0.733 --- 114,101,12,0.106 118,118,0,0.000 3.863 4.898 chr11 60567357 60567357 C T exonic MS4A10 nonsynonymous SNV MS4A10:NM_206893:exon8:c.C779T:p.A260V 0.06 0.064561 N 1.0 D 0.0010 B 0.573654 NA 2.9E-5 N -2.25 65 15 0.188 81 0 0.000 1.34323557419827217e-05 0.600 --- 62,50,12,0.194 62,62,0,0.000 3.567 11.829 chr11 60615460 60615460 A T exonic CCDC86 synonymous SNV CCDC86:NM_024098:exon2:c.A822T:p.R274R Score=620;Name=lod=441 156 32 0.170 154 0 0.000 2.67354393324028095e-09 0.562 --- 150,124,26,0.173 132,132,0,0.000 7.318 60 chr11 60620764 60620764 G A exonic PTGDR2 synonymous SNV PTGDR2:NM_004778:exon2:c.C432T:p.T144T Score=490;Name=lod=131 0.000077 rs144164916 336 64 0.160 374 0 0.000 5.58246247748283024e-20 0.547 --- 341,286,54,0.159 320,320,0,0.000 16.507 8.9 chr11 60704186 60704186 G A exonic TMEM132A nonsynonymous SNV TMEM132A:NM_017870:exon11:c.G2882A:p.R961Q,TMEM132A:NM_178031:exon11:c.G2879A:p.R960Q Score=466;Name=lod=104 0.01 0.990092 C 1.0 D 0.997 D 0.99788 N 0.011955 N 2.79 185 31 0.144 263 0 0.000 5.323156729750539e-12 0.484 --- 183,154,29,0.158 220,220,0,0.000 10.512 8.393 chr11 61548451 61548451 A T exonic MYRF nonsynonymous SNV MYRF:NM_013279:exon19:c.A2401T:p.T801S,MYRF:NM_001127392:exon20:c.A2506T:p.T836S Score=501;Name=lod=145 0.1 0.98014 C 1.0 D 0.101 B 0.999971 D 0.025521 N 4.08 149 17 0.102 158 0 0.000 1.07146943316656931e-05 0.588 --- 146,131,15,0.103 137,137,0,0.000 4.335 4.695 chr11 61914244 61914244 C T exonic INCENP nonsynonymous SNV INCENP:NM_020238:exon14:c.C2062T:p.R688W,INCENP:NM_001040694:exon15:c.C2074T:p.R692W Score=512;Name=lod=161 0.02 0.151346 N 0.99 D 0.665924 NA 0.986192 N 0.941541 D -2.07 331 73 0.181 402 0 0.000 5.96720141181610261e-24 0.603 --- 326,263,63,0.193 331,331,0,0.000 20.626 12.752 chr11 62065067 62065067 G A exonic SCGB1D4 nonsynonymous SNV SCGB1D4:NM_206998:exon2:c.C119T:p.A40V 0.27 0.008222 N 0.71 T 0.0 B 1.0E-6 N 0.002219 N -3.49 70 11 0.136 85 0 0.000 0.000257421540958941303 0.364 --- 67,59,8,0.119 73,73,0,0.000 2.661 7.133 chr11 62296270 62296270 C T exonic AHNAK synonymous SNV AHNAK:NM_001620:exon5:c.G5619A:p.A1873A rs201110918 393 78 0.166 429 0 0.000 4.34281341256448766e-24 0.500 --- 406,331,75,0.185 381,381,0,0.000 22.966 60 chr11 62414524 62414524 A G exonic INTS5 nonsynonymous SNV INTS5:NM_030628:exon2:c.T3028C:p.S1010P Score=649;Name=lod=581 0.72 0.797246 N 0.68 T 0.0 B 0.874199 N 0.007306 N 1.07 125 14 0.101 130 0 0.000 9.5242862155598316e-05 0.714 --- 116,105,11,0.095 116,116,0,0.000 3.118 7.065 chr11 62445083 62445083 C A exonic UBXN1 nonsynonymous SNV UBXN1:NM_015853:exon7:c.G558T:p.Q186H 0.12 0.987755 C 0.96 D 0.0010 B 0.687729 N 0.43383 N 3.48 136 21 0.134 150 0 0.000 5.1631694059781677e-07 0.667 --- 129,110,19,0.147 131,131,0,0.000 6.096 9.92 chr11 62948181 62948181 G T exonic SLC22A25 nonsynonymous SNV SLC22A25:NM_199352:exon6:c.C1021A:p.L341I 0.01 0.822593 N 0.98 D 0.424 P 0.999966 D 7.37E-4 N 0.38 69 11 0.138 94 0 0.000 0.000130467866017467006 0.545 --- 62,53,9,0.145 66,66,0,0.000 2.973 8.685 chr11 63313718 63313718 C T exonic RARRES3 nonsynonymous SNV RARRES3:NM_004585:exon4:c.C485T:p.A162V Score=259;Name=lod=15 0.000165 rs35845275 0 0.867575 N 1.0 D 0.012 B 0.831718 U 0.001807 N 1.2 87 17 0.163 102 0 0.000 7.55067309837586882e-06 0.588 --- 71,58,13,0.183 81,79,0,0.000 4.498 7.022 chr11 63426604 63426604 C T exonic ATL3 nonsynonymous SNV ATL3:NM_015459:exon2:c.G167A:p.R56Q Score=660;Name=lod=639 0.08 0.9992 C 0.943896 NA 0.928 D 1.0 D 0.997816 D 5.57 149 37 0.199 121 0 0.000 2.26757384829311229e-09 0.595 --- 148,118,30,0.203 100,100,0,0.000 7.071 60 chr11 63530949 63530949 C T exonic C11orf95 nonsynonymous SNV C11orf95:NM_001144936:exon5:c.G1978A:p.A660T Score=719;Name=lod=1114 0.06 167 50 0.230 191 0 0.000 1.02189841200122335e-15 0.580 --- 178,137,40,0.226 157,157,0,0.000 11.949 11.141 chr11 63532607 63532607 C T exonic C11orf95 nonsynonymous SNV C11orf95:NM_001144936:exon3:c.G757A:p.A253T Score=683;Name=lod=794 0.05 193 56 0.225 217 0 0.000 3.42911624731320622e-17 0.625 --- 213,167,46,0.216 179,179,0,0.000 13.158 13.591 chr11 64065113 64065113 G A exonic KCNK4 nonsynonymous SNV KCNK4:NM_033310:exon5:c.G649A:p.D217N Score=462;Name=lod=101 0 0.999229 C 0.956357 NA 0.987 D 1.0 D 1.0 D 4.71 157 32 0.169 173 0 0.000 2.46215913499004775e-10 0.500 --- 165,140,25,0.152 139,139,0,0.000 6.897 15.176 chr11 64111972 64111972 G A exonic CCDC88B synonymous SNV CCDC88B:NM_032251:exon14:c.G1959A:p.S653S 179 68 0.275 217 0 0.000 1.85862737971381592e-21 0.471 --- 211,155,56,0.265 189,189,0,0.000 17.264 60 chr11 64119688 64119688 G A exonic CCDC88B synonymous SNV CCDC88B:NM_032251:exon19:c.G3186A:p.Q1062Q Score=378;Name=lod=46 0.19 259 38 0.128 263 0 0.000 1.41332941776801512e-11 0.684 --- 241,210,31,0.129 212,212,0,0.000 8.714 7.734 chr11 64127991 64127991 G A exonic RPS6KA4 nonsynonymous SNV RPS6KA4:NM_001006944:exon4:c.G389A:p.R130H,RPS6KA4:NM_003942:exon4:c.G389A:p.R130H Score=531;Name=lod=191 0 0.998943 C 0.99 D 0.483 P 1.0 D 0.978469 D 3.38 121 26 0.177 150 0 0.000 3.36482104415179238e-09 0.538 --- 130,104,26,0.200 128,128,0,0.000 8.124 12.27 chr11 64532978 64532978 G A exonic SF1 nonsynonymous SNV SF1:NM_001178030:exon13:c.C1970T:p.A657V,SF1:NM_201998:exon13:c.C1595T:p.A532V Score=778;Name=lod=1936 0 0.990796 C 1.0 D 0.55258 NA 0.95485 N 0.001234 N 2.47 109 27 0.199 153 0 0.000 3.19131702848833235e-10 0.556 --- 116,94,22,0.190 123,123,0,0.000 7.398 8.328 chr11 64573133 64573133 C T exonic MEN1 nonsynonymous SNV MEN1:NM_000244:exon8:c.G1174A:p.E392K,MEN1:NM_130799:exon8:c.G1159A:p.E387K,MEN1:NM_130800:exon8:c.G1174A:p.E392K,MEN1:NM_130801:exon8:c.G1174A:p.E392K,MEN1:NM_130802:exon8:c.G1174A:p.E392K,MEN1:NM_130803:exon8:c.G1174A:p.E392K,MEN1:NM_130804:exon9:c.G1174A:p.E392K Score=336;Name=lod=31 0.04 0.956351 C 0.93 T 0.481 P 0.977092 N 0.034077 N 2.03 126 28 0.182 110 0 0.000 1.38857425644567819e-07 0.429 --- 131,106,24,0.185 97,97,0,0.000 6.121 10.976 chr11 64698009 64698009 G A exonic PPP2R5B nonsynonymous SNV PPP2R5B:NM_006244:exon8:c.G839A:p.R280H Score=548;Name=lod=224 0 0.987783 C 1.0 D 0.964 D 0.999979 D 0.480877 N 2.49 117 22 0.158 133 0 0.000 2.14991044797601847e-07 0.364 --- 114,95,19,0.167 120,120,0,0.000 6.298 12.624 chr11 64821764 64821764 A G exonic NAALADL1 nonsynonymous SNV NAALADL1:NM_005468:exon6:c.T950C:p.L317S Score=321;Name=lod=27 0 0.998378 C 0.99 D 0.895 D 0.864788 N 0.981226 D 4.51 160 25 0.135 163 0 0.000 6.30787697340630807e-08 0.680 --- 155,132,21,0.137 139,138,0,0.000 6.127 8.286 chr11 64825441 64825441 G T exonic NAALADL1 nonsynonymous SNV NAALADL1:NM_005468:exon3:c.C386A:p.S129Y 0.01 0.999339 C 0.99 D 0.354 P 0.981998 N 0.966659 D 4.3 236 36 0.132 236 0 0.000 6.49317283265265039e-11 0.667 --- 236,202,34,0.144 205,205,0,0.000 9.648 11.605 chr11 65062109 65062109 C T exonic POLA2 synonymous SNV POLA2:NM_002689:exon15:c.C1446T:p.A482A Score=544;Name=lod=216 0.000077 rs151070088 88 22 0.200 77 0 0.000 3.6334381218475434e-06 0.364 --- 85,69,16,0.188 61,61,0,0.000 4.010 12.352 chr11 65367094 65367094 G A exonic MAP3K11 synonymous SNV MAP3K11:NM_002419:exon9:c.C1977T:p.R659R 191 46 0.194 226 0 0.000 4.27976508733188052e-15 0.478 --- 206,163,43,0.209 198,198,0,0.000 13.562 5.825 chr11 65384819 65384819 C T exonic PCNXL3 nonsynonymous SNV PCNXL3:NM_032223:exon3:c.C440T:p.S147L Score=557;Name=lod=245 0.08 131 28 0.176 134 0 0.000 1.3539831939269815e-08 0.500 --- 132,107,25,0.189 110,110,0,0.000 6.983 60 chr11 65408478 65408478 G A exonic SIPA1 nonsynonymous SNV SIPA1:NM_006747:exon2:c.G86A:p.R29H,SIPA1:NM_153253:exon2:c.G86A:p.R29H Score=482;Name=lod=121 0 0.999305 C 1.0 D 0.974 D 0.829627 U 0.218367 N 4.79 175 47 0.212 224 0 0.000 3.72376664888998775e-16 0.574 --- 186,150,36,0.194 200,199,0,0.000 12.215 11.366 chr11 65632739 65632739 G A exonic MUS81 nonsynonymous SNV MUS81:NM_025128:exon14:c.G1450A:p.G484R Score=272;Name=lod=17 0.0005 rs200398671 0 0.999706 C 1.0 D 0.914 D 1.0 D 0.999976 D 5.43 223 49 0.180 208 0 0.000 1.79068967055615816e-13 0.408 --- 233,191,41,0.177 182,182,0,0.000 10.817 14.041 chr11 65835490 65835490 T C exonic SF3B2 nonsynonymous SNV SF3B2:NM_006842:exon20:c.T2404C:p.S802P Score=469;Name=lod=107 0.01 0.998197 C 0.98 D 0.991 D 1.0 D 0.999989 D 5.41 92 26 0.220 110 0 0.000 9.22857857350644235e-09 0.808 --- 104,83,21,0.202 93,93,0,0.000 6.257 15.051 chr11 66062449 66062449 C T exonic TMEM151A synonymous SNV TMEM151A:NM_153266:exon2:c.C732T:p.S244S Score=690;Name=lod=847 278 56 0.168 378 0 0.000 2.70442586622955435e-20 0.429 --- 294,245,48,0.164 311,311,0,0.000 16.017 60 chr11 66188657 66188657 C T exonic NPAS4 nonsynonymous SNV NPAS4:NM_178864:exon1:c.C7T:p.R3C Score=616;Name=lod=426 0 0.99887 C 1.0 D 1.0 D 0.999979 D 0.999987 D 4.72 91 22 0.195 93 0 0.000 8.48991023344599524e-07 0.591 --- 95,75,19,0.202 80,80,0,0.000 5.194 6.955 chr11 66189654 66189654 C T exonic NPAS4 nonsynonymous SNV NPAS4:NM_178864:exon2:c.C239T:p.A80V Score=340;Name=lod=32 0.01 0.998909 C 1.0 D 0.59 P 0.999984 D 0.998866 D 4.75 89 22 0.198 81 0 0.000 2.87744956865521775e-06 0.591 --- 89,69,20,0.225 64,64,0,0.000 5.007 14.282 chr11 66192272 66192272 G A exonic NPAS4 synonymous SNV NPAS4:NM_178864:exon7:c.G1911A:p.Q637Q Score=647;Name=lod=569 122 16 0.116 136 0 0.000 1.93165769523271451e-05 0.500 --- 125,108,17,0.136 120,120,0,0.000 5.048 11.136 chr11 66243124 66243124 C A exonic PELI3 nonsynonymous SNV PELI3:NM_001243136:exon6:c.C575A:p.A192D,PELI3:NM_001098510:exon7:c.C824A:p.A275D,PELI3:NM_001243135:exon7:c.C707A:p.A236D,PELI3:NM_145065:exon8:c.C896A:p.A299D Score=579;Name=lod=300 0 0.998321 C 1.0 D 0.994 D 1.0 D 0.999618 D 4.35 214 24 0.101 220 0 0.000 9.50561739716341466e-08 0.667 --- 208,187,21,0.101 184,184,0,0.000 5.969 5.385 chr11 66330536 66330536 G A exonic ACTN3 unknown UNKNOWN Score=503;Name=lod=147 0.000081 200 49 0.197 264 0 0.000 2.80239786187417658e-17 0.531 --- 216,177,38,0.177 225,225,0,0.000 12.615 60 chr11 66330570 66330570 G A exonic ACTN3 unknown UNKNOWN Score=527;Name=lod=185 0.000082 202 39 0.162 257 0 0.000 9.06864265368959254e-14 0.487 --- 206,166,39,0.190 218,216,0,0.000 13.078 7.753 chr11 66461665 66461665 C T exonic SPTBN2 nonsynonymous SNV SPTBN2:NM_006946:exon21:c.G4448A:p.R1483H Score=519;Name=lod=171 0.000077 0.07 0.897442 N 0.82 T 0.294 P 0.991823 N 0.418195 N 1.78 169 32 0.159 216 0 0.000 1.80090387506840272e-11 0.531 --- 176,146,30,0.170 179,179,0,0.000 9.733 8.105 chr11 66626531 66626531 A G exonic LRFN4 nonsynonymous SNV LRFN4:NM_024036:exon1:c.A1316G:p.Y439C Score=583;Name=lod=311 0 0.997557 C 1.0 D 0.999 D 0.99978 D 0.999953 D 4.12 150 28 0.157 181 0 0.000 9.22002654990241514e-10 0.357 --- 156,133,23,0.147 155,154,0,0.000 7.000 14.199 chr11 67018041 67018041 G A exonic KDM2A nonsynonymous SNV KDM2A:NM_001256405:exon6:c.G1223A:p.R408H,KDM2A:NM_012308:exon17:c.G2540A:p.R847H Score=682;Name=lod=790 0.32 189 51 0.213 255 0 0.000 4.32626972361593949e-18 0.529 --- 198,156,42,0.212 225,225,0,0.000 14.968 12.669 chr11 67069115 67069115 C T exonic ANKRD13D nonsynonymous SNV ANKRD13D:NM_207354:exon13:c.C1505T:p.A502V Score=349;Name=lod=35 0.3 0.97517 C 0.720511 NA 0.0020 B 0.974981 N 0.510809 D 3.15 259 47 0.154 288 1 0.003 1.13261746492175158e-13 0.532 1.000 268,229,39,0.146 253,252,1,0.004 10.518 10.797 chr11 67077346 67077346 C T exonic SSH3 nonsynonymous SNV SSH3:NM_017857:exon12:c.C1316T:p.A439V Score=599;Name=lod=363 0 0.997842 C 0.99 D 0.996 D 0.999993 D 2.0E-6 N 3.55 350 44 0.112 295 0 0.000 1.41489748167709873e-11 0.455 --- 319,285,33,0.104 237,237,0,0.000 8.077 12.208 chr11 67077607 67077607 T C exonic SSH3 nonsynonymous SNV SSH3:NM_017857:exon13:c.T1480C:p.S494P 0.01 0.996285 C 0.78 T 0.713 P 0.999185 N 0.686009 NA 4.3 229 43 0.158 292 0 0.000 3.72891055616130274e-15 0.419 --- 236,200,36,0.153 246,246,0,0.000 11.805 11.043 chr11 67079258 67079258 G A exonic SSH3 nonsynonymous SNV SSH3:NM_017857:exon14:c.G1880A:p.G627E Score=385;Name=lod=49 0 0.844772 N 1.0 D 0.979 D 7.0E-6 N 0.223232 NA 0.744 262 84 0.243 278 0 0.000 2.25457026199787961e-24 0.464 --- 291,224,67,0.230 236,235,0,0.000 18.742 10.157 chr11 67172556 67172556 G A exonic TBC1D10C synonymous SNV TBC1D10C:NM_001256508:exon3:c.G153A:p.G51G,TBC1D10C:NM_198517:exon3:c.G153A:p.G51G 100 18 0.153 114 0 0.000 3.93581086368317685e-06 0.722 --- 104,88,16,0.154 92,92,0,0.000 4.610 6.077 chr11 67207818 67207818 G A exonic CORO1B synonymous SNV CORO1B:NM_020441:exon7:c.C849T:p.Y283Y,CORO1B:NM_001018070:exon8:c.C849T:p.Y283Y Score=494;Name=lod=136 175 30 0.146 191 0 0.000 9.62908937568195752e-10 0.400 --- 173,147,26,0.150 158,158,0,0.000 7.715 12.638 chr11 67257833 67257833 C T exonic AIP nonsynonymous SNV AIP:NM_003977:exon5:c.C692T:p.T231M Score=366;Name=lod=41 0.01 0.998761 C 0.87 T 0.975 D 1.0 D 0.999987 D 5.16 173 38 0.180 181 0 0.000 1.19781496084171539e-11 0.500 --- 183,151,32,0.175 160,160,0,0.000 9.187 15.955 chr11 67396410 67396410 G A exonic NUDT8 synonymous SNV NUDT8:NM_001243750:exon2:c.C307T:p.L103L,NUDT8:NM_181843:exon2:c.C307T:p.L103L 159 36 0.185 189 0 0.000 5.67617790841891378e-12 0.444 --- 164,132,32,0.195 152,152,0,0.000 9.788 10.413 chr11 67795277 67795277 G A exonic ALDH3B1 unknown UNKNOWN Score=520;Name=lod=173 0 171 49 0.223 211 0 0.000 2.80861720456869757e-16 0.673 --- 189,143,44,0.235 172,172,0,0.000 13.367 15.955 chr11 68115452 68115452 G A exonic LRP5 nonsynonymous SNV LRP5:NM_002335:exon2:c.G229A:p.V77M Score=597;Name=lod=357 0 0.998919 C 0.96 D 0.252 P 0.980339 U 0.571205 D 4.12 160 38 0.192 177 0 0.000 6.63347745817393679e-12 0.605 --- 176,138,38,0.216 146,146,0,0.000 10.656 13.275 chr11 69625228 69625228 C T exonic FGF3 nonsynonymous SNV FGF3:NM_005247:exon3:c.G565A:p.E189K Score=543;Name=lod=214 0.01 0.992519 C 0.95 T 0.97 D 0.999808 N 0.996643 D 3.51 168 39 0.188 239 0 0.000 1.20477859937477561e-14 0.385 --- 171,136,35,0.205 198,198,0,0.000 12.592 15.955 chr11 69934123 69934123 G A exonic ANO1 nonsynonymous SNV ANO1:NM_018043:exon2:c.G374A:p.R125H 0.04 138 41 0.229 176 0 0.000 7.16394576773695939e-14 0.341 --- 153,120,33,0.216 151,151,0,0.000 10.467 11.479 chr11 70011580 70011580 C T exonic ANO1 nonsynonymous SNV ANO1:NM_018043:exon20:c.C1955T:p.A652V Score=401;Name=lod=57 0.01 50 15 0.231 78 0 0.000 2.71307620146656976e-06 0.667 --- 54,42,12,0.222 62,62,0,0.000 4.302 9.635 chr11 70824404 70824404 A G exonic SHANK2 unknown UNKNOWN Score=504;Name=lod=149 0 67 11 0.141 91 0 0.000 0.00013479311577568393 0.273 --- 63,54,9,0.143 73,72,0,0.000 3.121 7.19 chr11 71174501 71174501 G A exonic NADSYN1 nonsynonymous SNV NADSYN1:NM_018161:exon4:c.G287A:p.R96H Score=520;Name=lod=173 0.07 0.989554 C 0.75 T 0.994 D 0.999981 D 0.347058 N 3.5 71 25 0.260 136 0 0.000 3.2507109085922881e-11 0.640 --- 72,53,19,0.264 103,103,0,0.000 8.021 12.687 chr11 71706515 71706515 C T exonic RNF121 nonsynonymous SNV RNF121:NM_018320:exon8:c.C781T:p.R261C Score=507;Name=lod=154 0 0.999311 C 1.0 D 1.0 D 1.0 D 0.791716 NA 5.71 88 11 0.111 92 0 0.000 0.000779830658794750213 0.545 --- 82,73,9,0.110 77,77,0,0.000 2.495 6.783 chr11 72410538 72410538 G A exonic ARAP1 nonsynonymous SNV ARAP1:NM_001135190:exon14:c.C1444T:p.R482W,ARAP1:NM_015242:exon15:c.C1627T:p.R543W,ARAP1:NM_001040118:exon17:c.C2362T:p.R788W Score=512;Name=lod=160 0.000077 0 0.999556 C 0.99 D 0.998 D 0.999789 D 0.309536 N 3.92 166 24 0.126 219 0 0.000 4.4561407130392356e-09 0.500 --- 151,131,19,0.127 173,173,0,0.000 6.611 7.555 chr11 73021118 73021118 C T exonic ARHGEF17 nonsynonymous SNV ARHGEF17:NM_014786:exon1:c.C1435T:p.R479C Score=507;Name=lod=153 0.0005 rs201544882 0 0.997887 C 1.0 D 0.993 D 0.996582 N 0.0071 N 4.14 198 56 0.220 270 0 0.000 7.29509111977121261e-20 0.536 --- 229,178,51,0.223 238,238,0,0.000 17.171 60 chr11 73068078 73068078 C T exonic ARHGEF17 synonymous SNV ARHGEF17:NM_014786:exon8:c.C3900T:p.I1300I Score=658;Name=lod=630 0.000077 76 24 0.240 96 0 0.000 2.76021527206413071e-08 0.542 --- 79,62,17,0.215 83,83,0,0.000 5.730 10.747 chr11 73390755 73390755 C T exonic RAB6A nonsynonymous SNV RAB6A:NM_001243718:exon4:c.G194A:p.R65H,RAB6A:NM_001243719:exon7:c.G407A:p.R136H,RAB6A:NM_002869:exon7:c.G506A:p.R169H,RAB6A:NM_198896:exon7:c.G506A:p.R169H Score=614;Name=lod=419 0.06 0.998444 C 1.0 D 0.016 B 0.999999 D 0.99954 D 4.94 58 11 0.159 106 0 0.000 2.12825684950615162e-05 0.455 --- 56,47,9,0.161 82,82,0,0.000 3.704 7.443 chr11 73829416 73829416 G A exonic C2CD3 synonymous SNV C2CD3:NM_015531:exon9:c.C1377T:p.T459T 54 8 0.129 79 0 0.000 0.0010681672906407099 0.375 --- 52,46,6,0.115 66,66,0,0.000 2.209 6.463 chr11 74570254 74570254 C T exonic XRRA1 synonymous SNV XRRA1:NM_182969:exon12:c.G1095A:p.T365T Score=587;Name=lod=325 0.000083 0.0005 rs150446249 138 25 0.153 140 1 0.007 1.28758777338853903e-06 0.400 1.000 125,105,20,0.160 119,116,1,0.009 4.925 9.195 chr11 75898126 75898126 G A exonic WNT11 nonsynonymous SNV WNT11:NM_004626:exon5:c.C1048T:p.R350C Score=507;Name=lod=154 0.05 0.999482 C 0.96 D 0.985 D 1.0 D 0.999788 D 4.68 219 36 0.141 280 0 0.000 6.47569983683066974e-13 0.556 --- 216,184,32,0.148 220,220,0,0.000 10.304 12.138 chr11 76239361 76239361 A G exonic C11orf30 nonsynonymous SNV C11orf30:NM_020193:exon14:c.A2045G:p.E682G Score=703;Name=lod=955 0 0.998825 C 1.0 D 0.992 D 1.0 D 0.998873 D 5.34 109 13 0.107 144 0 0.000 2.76023018073692714e-05 0.615 --- 98,87,11,0.112 118,118,0,0.000 3.916 9.298 chr11 76256898 76256898 C T exonic C11orf30 nonsynonymous SNV C11orf30:NM_020193:exon20:c.C3331T:p.R1111C Score=792;Name=lod=2214 ID=COSM196342;OCCURENCE=2(large_intestine) 0 0.986165 C 1.0 D 0.961 D 0.995067 N 0.362014 N 4.13 143 26 0.154 212 0 0.000 2.08614440574301474e-10 0.692 --- 137,114,23,0.168 164,163,0,0.000 8.303 60 chr11 76371173 76371173 G A exonic LRRC32 synonymous SNV LRRC32:NM_001128922:exon3:c.C1464T:p.G488G,LRRC32:NM_005512:exon3:c.C1464T:p.G488G Score=389;Name=lod=51 177 32 0.153 217 0 0.000 3.43109898655292616e-11 0.469 --- 177,148,28,0.159 191,191,0,0.000 9.463 10.683 chr11 76901072 76901072 G A exonic MYO7A nonsynonymous SNV MYO7A:NM_000260:exon29:c.G3638A:p.R1213Q,MYO7A:NM_001127180:exon29:c.G3638A:p.R1213Q Score=474;Name=lod=113 0.29 162 43 0.210 214 0 0.000 3.61936667041483325e-15 0.535 --- 158,126,32,0.203 170,170,0,0.000 10.936 6.724 chr11 76908614 76908614 C A exonic MYO7A nonsynonymous SNV MYO7A:NM_000260:exon33:c.C4412A:p.S1471Y,MYO7A:NM_001127180:exon33:c.C4412A:p.S1471Y Score=659;Name=lod=634 0 87 14 0.139 103 0 0.000 3.26461512518878549e-05 0.357 --- 79,68,11,0.139 84,84,0,0.000 3.627 4.589 chr11 78277292 78277292 C T exonic NARS2 synonymous SNV NARS2:NM_024678:exon4:c.G399A:p.R133R Score=521;Name=lod=174 84 11 0.116 105 0 0.000 0.000201355287217001174 0.273 --- 75,65,10,0.133 89,89,0,0.000 3.549 6.909 chr11 78614539 78614539 G A exonic TENM4 nonsynonymous SNV TENM4:NM_001098816:exon7:c.C523T:p.R175W Score=417;Name=lod=66 0.02 250 46 0.155 304 0 0.000 1.12290070465846394e-15 0.348 --- 250,207,42,0.169 253,252,0,0.000 13.578 9.37 chr11 82444098 82444098 C T exonic FAM181B nonsynonymous SNV FAM181B:NM_175885:exon1:c.G674A:p.R225H Score=505;Name=lod=151 0 0.995685 C 1.0 D 0.997 D 0.999997 U 0.844749 D 4.01 269 35 0.115 318 0 0.000 4.54072019246004242e-12 0.514 --- 269,241,28,0.104 275,275,0,0.000 8.889 6.371 chr11 82875445 82875445 T C splicing PCF11 NM_015885:exon4:c.702+2T>C Score=702;Name=lod=950 97 12 0.110 90 0 0.000 0.000593515878043422757 0.500 --- 86,76,10,0.116 75,75,0,0.000 2.744 7.749 chr11 85445199 85445199 C T exonic SYTL2 synonymous SNV SYTL2:NM_001162951:exon6:c.G1170A:p.S390S,SYTL2:NM_001162953:exon6:c.G1173A:p.S391S,SYTL2:NM_032943:exon7:c.G1170A:p.S390S 99 23 0.189 146 0 0.000 3.97559988538006515e-09 0.565 --- 106,89,17,0.160 123,123,0,0.000 6.011 12.948 chr11 89424120 89424120 T C exonic FOLH1B nonsynonymous SNV FOLH1B:NM_153696:exon11:c.T770C:p.F257S Score=412;Name=lod=63 Score=0.971432;Name=chr11:49166175 0 0.992888 C 1.0 D 0.995 D 0.999992 D 0.965358 D 3.97 155 27 0.148 223 0 0.000 1.33062387259013957e-10 0.704 --- 170,144,25,0.148 196,195,0,0.000 8.775 60 chr11 92533657 92533657 G T exonic FAT3 nonsynonymous SNV FAT3:NM_001008781:exon9:c.G7478T:p.S2493I Score=551;Name=lod=231 0 210 36 0.146 321 0 0.000 1.85213867167877731e-14 0.500 --- 208,174,34,0.163 257,256,1,0.004 11.254 13.618 chr11 93430290 93430290 T C exonic KIAA1731 nonsynonymous SNV KIAA1731:NM_033395:exon15:c.T2212C:p.S738P 0 113 15 0.117 134 0 0.000 1.38183306786917193e-05 0.533 --- 102,89,13,0.127 107,107,0,0.000 4.231 10.569 chr11 93432302 93432302 A G exonic KIAA1731 synonymous SNV KIAA1731:NM_033395:exon15:c.A4224G:p.L1408L 133 16 0.107 161 0 0.000 5.21930964217665974e-06 0.375 --- 137,123,13,0.096 143,143,0,0.000 4.191 6.039 chr11 93778969 93778969 G T exonic HEPHL1 nonsynonymous SNV HEPHL1:NM_001098672:exon2:c.G301T:p.G101C Score=553;Name=lod=236 0 110 19 0.147 154 0 0.000 1.51433062312698931e-07 0.632 --- 108,92,16,0.148 122,122,0,0.000 5.528 10.663 chr11 94335078 94335078 G A exonic PIWIL4 nonsynonymous SNV PIWIL4:NM_152431:exon12:c.G1498A:p.E500K 0.000077 0.0005 rs140141244 0.13 0.96411 C 0.32 T 0.116 B 0.999998 D 0.915402 D 2.63 121 30 0.199 150 0 0.000 3.76265947269898973e-10 0.467 --- 117,92,24,0.207 112,111,0,0.000 7.445 60 chr11 100998282 100998282 G A exonic PGR nonsynonymous SNV PGR:NM_000926:exon1:c.C1520T:p.A507V,PGR:NM_001202474:exon1:c.C1028T:p.A343V,PGR:NM_001271161:exon1:c.C1028T:p.A343V 0 0.995408 C 1.0 D 0.849 P 0.647935 U 0.12831 N 2.85 82 13 0.137 102 0 0.000 4.83863370183844076e-05 0.231 --- 78,66,12,0.154 86,86,0,0.000 4.081 6.012 chr11 102736608 102736608 T A exonic MMP12 unknown UNKNOWN 83 15 0.153 141 0 0.000 7.88994510713321592e-07 0.400 --- 86,74,12,0.140 103,103,0,0.000 4.298 7.723 chr11 102738763 102738763 G T exonic MMP12 unknown UNKNOWN Score=451;Name=lod=91 91 16 0.150 115 0 0.000 4.53383893122197382e-06 0.500 --- 94,80,14,0.149 89,89,0,0.000 4.113 12.034 chr11 103047043 103047043 T C exonic DYNC2H1 synonymous SNV DYNC2H1:NM_001080463:exon37:c.T5754C:p.F1918F,DYNC2H1:NM_001377:exon37:c.T5754C:p.F1918F Score=654;Name=lod=609 132 17 0.114 184 0 0.000 6.77775057334408121e-07 0.529 --- 123,107,16,0.130 141,140,0,0.000 5.521 8.371 chr11 103187339 103187339 A T exonic DYNC2H1 nonsynonymous SNV DYNC2H1:NM_001377:exon80:c.A11715T:p.R3905S,DYNC2H1:NM_001080463:exon81:c.A11736T:p.R3912S Score=616;Name=lod=425 0.04 88 15 0.146 118 0 0.000 5.92353131743191848e-06 0.533 --- 85,74,11,0.129 91,91,0,0.000 3.632 4.519 chr11 107325241 107325241 C T exonic CWF19L2 nonsynonymous SNV CWF19L2:NM_152434:exon3:c.G274A:p.E92K Score=563;Name=lod=260 0.2 96 24 0.200 121 0 0.000 1.49617950609400928e-08 0.333 --- 98,78,18,0.188 96,95,0,0.000 5.499 4.281 chr11 108384252 108384252 G T exonic EXPH5 nonsynonymous SNV EXPH5:NM_015065:exon6:c.C1982A:p.P661H 0 0.99979 C 1.0 D 0.966 D 0.993499 N 0.314741 N 5.68 106 19 0.152 122 0 0.000 1.8567938526582725e-06 0.526 --- 110,92,18,0.164 113,112,1,0.009 4.789 14.593 chr11 110035796 110035796 T A exonic ZC3H12C stopgain ZC3H12C:NM_033390:exon6:c.T1986A:p.C662X Score=346;Name=lod=34 0.38 198 40 0.168 277 0 0.000 5.71115562918607985e-15 0.550 --- 208,171,36,0.174 243,243,0,0.000 12.921 15.955 chr11 111430945 111430945 C T exonic LAYN nonsynonymous SNV LAYN:NM_001258391:exon6:c.C452T:p.A151V,LAYN:NM_178834:exon7:c.C887T:p.A296V,LAYN:NM_001258390:exon8:c.C911T:p.A304V Score=502;Name=lod=146 0.11 0.986939 C 0.724406 NA 0.023 B 0.993985 N 0.510454 NA 4.59 142 39 0.215 186 0 0.000 1.04065822285096597e-13 0.487 --- 153,121,32,0.209 157,157,0,0.000 10.610 60 chr11 111942441 111942441 C T exonic PIH1D2 stopgain PIH1D2:NM_001082619:exon3:c.G219A:p.W73X,PIH1D2:NM_138789:exon3:c.G219A:p.W73X Score=417;Name=lod=66 0 0.998571 C 0.903765 NA 0.735205 NA 0.999317 N 1.0 A 4.5 103 23 0.183 113 0 0.000 1.50494542423922922e-07 0.304 --- 92,74,18,0.196 94,94,0,0.000 5.907 60 chr11 111953638 111953638 G A exonic C11orf57 nonsynonymous SNV C11orf57:NM_001082969:exon6:c.G824A:p.R275H,C11orf57:NM_001082970:exon6:c.G821A:p.R274H,C11orf57:NM_018195:exon6:c.G824A:p.R275H Score=570;Name=lod=277 ID=COSM69875;OCCURENCE=1(ovary) rs201262827 0 0.999753 C 0.939672 NA 0.967 D 0.993095 N 0.791889 D 5.04 140 27 0.162 172 1 0.006 2.48312006778132642e-08 0.519 0.000 145,123,22,0.152 151,148,1,0.007 5.988 14.386 chr11 113679129 113679129 C T exonic USP28 nonsynonymous SNV USP28:NM_020886:exon18:c.G2195A:p.R732H Score=300;Name=lod=22 0.000154 rs150369655 0.13 0.998967 C 0.9 T 0.018 B 0.967498 N 0.783788 D 4.8 107 20 0.157 184 0 0.000 6.39908915748236029e-09 0.250 --- 108,92,16,0.148 152,151,0,0.000 6.380 10.267 chr11 116654269 116654269 C T exonic ZNF259 nonsynonymous SNV ZNF259:NM_003904:exon10:c.G958A:p.D320N Score=586;Name=lod=322 0 0.999217 C 1.0 D 0.992 D 1.0 D 0.999963 D 5.59 81 22 0.214 86 0 0.000 7.06215041986276138e-07 0.455 --- 76,60,16,0.211 69,69,0,0.000 4.783 60 chr11 117049995 117049995 T C exonic SIDT2 synonymous SNV SIDT2:NM_001040455:exon1:c.T16C:p.L6L Score=574;Name=lod=288 112 40 0.263 145 0 0.000 1.42205581245922669e-13 0.750 --- 132,98,34,0.258 121,121,0,0.000 10.610 13.402 chr11 117053491 117053491 C T exonic SIDT2 nonsynonymous SNV SIDT2:NM_001040455:exon6:c.C671T:p.T224M Score=500;Name=lod=144 0 0.975056 C 1.0 D 0.999 D 1.0 D 0.996306 D 2.95 139 48 0.257 186 0 0.000 2.21740692588188906e-16 0.458 --- 154,119,35,0.227 151,151,0,0.000 11.162 10.964 chr11 117306377 117306377 C T exonic DSCAML1 nonsynonymous SNV DSCAML1:NM_020693:exon27:c.G5039A:p.R1680Q Score=548;Name=lod=226 0.01 0.998298 C 0.91 T 0.741385 NA 1.0 NA 0.999826 D 4.34 152 20 0.116 194 0 0.000 1.48435710107991255e-07 0.150 --- 149,121,25,0.171 153,153,0,0.000 8.282 5.402 chr11 117307941 117307941 C T exonic DSCAML1 synonymous SNV DSCAML1:NM_020693:exon26:c.G4797A:p.T1599T 0.000077 0.0005 ID=COSM1158914;OCCURENCE=2(pancreas) rs202016901 224 59 0.208 287 0 0.000 3.81446171290939953e-20 0.508 --- 249,197,52,0.209 233,233,0,0.000 16.159 60 chr11 117864845 117864845 C T exonic IL10RA synonymous SNV IL10RA:NM_001558:exon5:c.C669T:p.C223C Score=284;Name=lod=19 89 25 0.219 107 0 0.000 1.81051170516769518e-08 0.560 --- 94,75,19,0.202 86,86,0,0.000 5.720 7.959 chr11 117988169 117988169 G T exonic TMPRSS4 nonsynonymous SNV TMPRSS4:NM_001173552:exon11:c.G1182T:p.K394N,TMPRSS4:NM_001083947:exon12:c.G1287T:p.K429N,TMPRSS4:NM_001173551:exon12:c.G1296T:p.K432N,TMPRSS4:NM_019894:exon12:c.G1302T:p.K434N Score=346;Name=lod=34 0.01 0.999005 C 0.97 D 0.474 P 0.997537 N 0.661943 NA 4.5 89 22 0.198 119 0 0.000 3.31880492360242528e-08 0.455 --- 93,75,18,0.194 104,104,0,0.000 6.284 10.368 chr11 118247332 118247332 G A exonic UBE4A synonymous SNV UBE4A:NM_001204077:exon10:c.G1494A:p.P498P,UBE4A:NM_004788:exon10:c.G1515A:p.P505P ID=COSM1351587;OCCURENCE=1(large_intestine) 151 32 0.175 173 0 0.000 1.51716636962542961e-10 0.531 --- 140,116,23,0.165 134,134,0,0.000 7.020 9.378 chr11 118365112 118365112 G A exonic MLL nonsynonymous SNV MLL:NM_001197104:exon17:c.G5288A:p.R1763Q,MLL:NM_005933:exon17:c.G5279A:p.R1760Q Score=683;Name=lod=795 0.02 0.9998 C 1.0 D 0.997 D 1.0 D 0.99763 D 5.72 40 18 0.310 75 0 0.000 5.66599617149124178e-08 0.500 --- 44,33,11,0.250 55,54,0,0.000 4.165 10.132 chr11 118772719 118772719 G A exonic BCL9L nonsynonymous SNV BCL9L:NM_182557:exon6:c.C1733T:p.A578V 0.000077 0 rs201172152 0.2 0.987811 C 0.65 T 0.02 B 0.691633 N 0.033336 N 3.12 316 52 0.141 391 0 0.000 6.08910306128728529e-18 0.538 --- 316,271,44,0.140 328,327,0,0.000 14.320 11.643 chr11 118774003 118774003 C T exonic BCL9L nonsynonymous SNV BCL9L:NM_182557:exon4:c.G691A:p.V231I Score=317;Name=lod=26 0.13 0.984334 C 0.27 T 0.0090 B 0.996161 N 0.002765 N 1.78 163 52 0.242 226 0 0.000 1.63495019634795045e-18 0.654 --- 177,134,43,0.243 191,191,0,0.000 14.977 6.82 chr11 118986911 118986911 G A exonic C2CD2L nonsynonymous SNV C2CD2L:NM_014807:exon14:c.G2069A:p.R690H Score=597;Name=lod=357 0.01 0.999649 C 0.99 D 1.0 D 1.0 D 0.995065 D 4.77 127 26 0.170 138 0 0.000 1.92470407158807989e-08 0.423 --- 121,97,24,0.198 117,117,0,0.000 7.443 14.808 chr11 119243890 119243890 G A exonic USP2 nonsynonymous SNV USP2:NM_004205:exon2:c.C301T:p.R101W Score=503;Name=lod=148 ID=COSM248235;OCCURENCE=1(prostate) 0 0.93806 N 1.0 D 0.942 D 0.242139 N 0.19414 N 2.0 271 65 0.193 341 1 0.003 1.85944415742305735e-20 0.538 1.000 284,230,54,0.190 273,272,1,0.004 15.462 60 chr11 120350811 120350811 T C exonic ARHGEF12 synonymous SNV ARHGEF12:NM_001198665:exon37:c.T3852C:p.I1284I,ARHGEF12:NM_015313:exon38:c.T3909C:p.I1303I 156 41 0.208 188 0 0.000 1.34951496932662903e-13 0.610 --- 170,133,36,0.213 162,162,0,0.000 11.326 60 chr11 120745911 120745911 G A exonic GRIK4 nonsynonymous SNV GRIK4:NM_014619:exon9:c.G1123A:p.A375T Score=670;Name=lod=706 0.65 0.999725 C 0.26 T 0.0 B 0.999948 D 0.885271 D 5.48 34 13 0.277 62 0 0.000 6.01656533544660047e-06 0.538 --- 37,27,10,0.270 47,46,0,0.000 3.844 8.823 chr11 120983846 120983846 C T exonic TECTA synonymous SNV TECTA:NM_005422:exon4:c.C552T:p.Y184Y Score=468;Name=lod=106 0.000461 0.0009 ID=COSM369639;OCCURENCE=1(oesophagus),1(lung) rs148364865 128 20 0.135 208 0 0.000 1.06805604788109833e-08 0.550 --- 130,112,17,0.132 169,169,0,0.000 6.458 9.947 chr11 121016368 121016368 G T exonic TECTA nonsynonymous SNV TECTA:NM_005422:exon11:c.G3648T:p.K1216N Score=478;Name=lod=117 0.05 0.993618 C 0.86 T 0.981 D 1.0 D 0.430349 N 4.34 157 35 0.182 221 0 0.000 3.68601622119300048e-13 0.571 --- 164,134,30,0.183 181,181,0,0.000 10.353 12.78 chr11 122775137 122775137 A G exonic C11orf63 synonymous SNV C11orf63:NM_024806:exon3:c.A849G:p.E283E,C11orf63:NM_199124:exon3:c.A849G:p.E283E 100 19 0.160 122 0 0.000 6.82712710557041099e-07 0.158 --- 102,84,17,0.168 111,110,0,0.000 5.771 9.98 chr11 122929478 122929478 T A exonic HSPA8 nonsynonymous SNV HSPA8:NM_006597:exon7:c.A1384T:p.T462S,HSPA8:NM_153201:exon7:c.A1384T:p.T462S Score=601;Name=lod=369 Score=0.946697;Name=chr7:10490931 0.6 0.996353 C 0.16 T 0.048 B 0.999829 D 0.438359 N 4.67 88 19 0.178 104 0 0.000 1.63254561789510503e-06 0.632 --- 90,72,17,0.191 84,84,0,0.000 5.137 9.619 chr11 123755231 123755231 T C exonic TMEM225 nonsynonymous SNV TMEM225:NM_001013743:exon2:c.A294G:p.I98M 0.03 0.041302 N 0.97 D 0.0070 B 0.042042 N 3.8E-5 N -6.05 86 22 0.204 128 0 0.000 9.38333368280382886e-09 0.455 --- 88,70,17,0.195 104,104,0,0.000 6.214 12.495 chr11 125765362 125765362 A G exonic PUS3 nonsynonymous SNV PUS3:NM_001271985:exon2:c.T77C:p.V26A,PUS3:NM_031307:exon3:c.T701C:p.V234A Score=605;Name=lod=385 0 0.999111 C 1.0 D 0.998 D 1.0 D 0.999888 D 5.62 139 36 0.206 175 0 0.000 3.90954280758312585e-12 0.444 --- 150,116,34,0.227 156,156,0,0.000 11.461 60 chr11 126131337 126131337 G T exonic FAM118B nonsynonymous SNV FAM118B:NM_024556:exon8:c.G1000T:p.G334C Score=484;Name=lod=124 0.01 0.999738 C 0.94 T 0.048 B 0.999785 D 0.97773 D 4.99 68 8 0.105 71 0 0.000 0.00662059229984535768 0.500 --- 63,57,6,0.095 58,58,0,0.000 1.550 8.013 chr11 126137577 126137577 A G exonic SRPR nonsynonymous SNV SRPR:NM_001177842:exon2:c.T148C:p.Y50H,SRPR:NM_003139:exon3:c.T232C:p.Y78H Score=630;Name=lod=484 0 0.955846 C 1.0 D 0.999 D 1.0 D 1.0 D 2.64 114 36 0.240 158 0 0.000 4.87751573594570403e-13 0.417 --- 122,94,28,0.230 130,130,0,0.000 9.605 60 chr11 129814740 129814740 G A exonic PRDM10 nonsynonymous SNV PRDM10:NM_199438:exon2:c.C430T:p.R144C,PRDM10:NM_199439:exon2:c.C430T:p.R144C,PRDM10:NM_020228:exon6:c.C688T:p.R230C,PRDM10:NM_199437:exon6:c.C688T:p.R230C Score=560;Name=lod=251 0 0.999479 C 1.0 D 1.0 D 0.999999 D 0.08053 N 5.0 213 49 0.187 230 0 0.000 4.04629408791357128e-15 0.551 --- 219,176,43,0.196 189,189,0,0.000 12.519 60 chr11 129827791 129827791 C T exonic PRDM10 synonymous SNV PRDM10:NM_020228:exon3:c.G84A:p.P28P,PRDM10:NM_199437:exon3:c.G84A:p.P28P 136 28 0.171 149 0 0.000 4.37469775999939886e-09 0.143 --- 139,112,26,0.188 132,132,0,0.000 8.024 8.64 chr11 132812897 132812897 C T exonic OPCML nonsynonymous SNV OPCML:NM_002545:exon1:c.G91A:p.V31M,OPCML:NM_001012393:exon2:c.G70A:p.V24M Score=736;Name=lod=1311 0 0.998883 C 0.794991 NA 0.486 P 0.975355 N 0.064066 N 5.25 202 49 0.195 259 0 0.000 5.85684020789968279e-17 0.490 --- 207,168,39,0.188 222,222,0,0.000 13.230 60 chr11 133790631 133790631 A G exonic IGSF9B nonsynonymous SNV IGSF9B:NM_001277285:exon18:c.T2989C:p.S997P Score=423;Name=lod=70 0 161 44 0.215 205 0 0.000 8.55217228900505127e-15 0.636 --- 181,142,39,0.215 182,182,0,0.000 12.787 15.955 chr11 133790674 133790674 C T exonic IGSF9B synonymous SNV IGSF9B:NM_001277285:exon18:c.G2946A:p.P982P Score=543;Name=lod=215 0.000899 153 30 0.164 205 0 0.000 4.12618819694744907e-11 0.467 --- 161,135,25,0.156 192,191,0,0.000 9.009 14.955 chr12 234861 234861 T C exonic IQSEC3 nonsynonymous SNV IQSEC3:NM_001170738:exon3:c.T686C:p.V229A Score=675;Name=lod=737 0.46 181 21 0.104 238 0 0.000 4.39392815857174176e-08 0.571 --- 184,164,17,0.094 220,216,0,0.000 5.985 6.347 chr12 248111 248111 G A exonic IQSEC3 nonsynonymous SNV IQSEC3:NM_015232:exon3:c.G673A:p.E225K,IQSEC3:NM_001170738:exon4:c.G1582A:p.E528K 0.18 0.936909 N 0.58 T 0.170897 NA 0.107552 N 0.070683 N 1.5 214 50 0.189 297 0 0.000 2.85169044022234236e-18 0.600 --- 225,181,44,0.196 242,242,0,0.000 15.002 8.556 chr12 346455 346455 G A exonic SLC6A13 nonsynonymous SNV SLC6A13:NM_001190997:exon4:c.C289T:p.R97W,SLC6A13:NM_016615:exon6:c.C565T:p.R189W Score=509;Name=lod=156 0.000077 rs144675285 0 0.930182 N 1.0 D 0.999 D 1.0 D 0.9989 D 3.4 77 9 0.105 98 0 0.000 0.000842044337051813977 0.222 --- 74,65,9,0.122 81,81,0,0.000 3.007 4.371 chr12 351805 351805 G A exonic SLC6A13 synonymous SNV SLC6A13:NM_016615:exon4:c.C453T:p.G151G Score=471;Name=lod=109 101 16 0.137 125 0 0.000 5.05261397184575583e-06 0.500 --- 99,84,15,0.152 95,95,0,0.000 4.447 6.757 chr12 2797784 2797784 A G exonic CACNA1C nonsynonymous SNV CACNA1C:NM_001129837:exon45:c.A5980G:p.S1994G,CACNA1C:NM_001129838:exon45:c.A5980G:p.S1994G,CACNA1C:NM_001129839:exon45:c.A5974G:p.S1992G,CACNA1C:NM_001129846:exon45:c.A5923G:p.S1975G,CACNA1C:NM_000719:exon46:c.A5956G:p.S1986G,CACNA1C:NM_001129829:exon46:c.A6079G:p.S2027G,CACNA1C:NM_001129833:exon46:c.A6013G:p.S2005G,CACNA1C:NM_001129834:exon46:c.A6013G:p.S2005G,CACNA1C:NM_001129835:exon46:c.A6013G:p.S2005G,CACNA1C:NM_001129836:exon46:c.A6007G:p.S2003G,CACNA1C:NM_001129840:exon46:c.A5956G:p.S1986G,CACNA1C:NM_001129841:exon46:c.A5956G:p.S1986G,CACNA1C:NM_001129842:exon46:c.A5956G:p.S1986G,CACNA1C:NM_001129843:exon46:c.A5956G:p.S1986G,CACNA1C:NM_001129844:exon46:c.A5947G:p.S1983G,CACNA1C:NM_001167623:exon46:c.A5956G:p.S1986G,CACNA1C:NM_001167625:exon46:c.A6136G:p.S2046G,CACNA1C:NM_001129830:exon47:c.A6061G:p.S2021G,CACNA1C:NM_001129831:exon47:c.A6040G:p.S2014G,CACNA1C:NM_001129832:exon47:c.A6016G:p.S2006G,CACNA1C:NM_001167624:exon47:c.A6061G:p.S2021G,CACNA1C:NM_001129827:exon48:c.A6100G:p.S2034G,CACNA1C:NM_199460:exon49:c.A6205G:p.S2069G Score=519;Name=lod=171 0.01 166 31 0.157 181 0 0.000 5.21296154276497219e-10 0.548 --- 179,148,30,0.169 161,161,0,0.000 8.929 60 chr12 4835937 4835937 G A exonic GALNT8 nonsynonymous SNV GALNT8:NM_017417:exon2:c.G451A:p.A151T Score=454;Name=lod=93 0.02 0.998758 C 0.91 T 0.0050 B 0.95044 N 0.053715 N 3.83 91 12 0.117 123 0 0.000 5.5529136704629173e-05 0.417 --- 78,67,11,0.141 100,100,0,0.000 4.126 6.244 chr12 5153849 5153849 A G exonic KCNA5 nonsynonymous SNV KCNA5:NM_002234:exon1:c.A536G:p.Y179C Score=606;Name=lod=387 0 0.971557 C 1.0 D 0.947 D 0.999998 U 0.981869 D 3.53 263 33 0.111 364 0 0.000 1.1382891397080645e-12 0.455 --- 254,224,29,0.115 322,319,0,0.000 10.685 7.939 chr12 5153907 5153907 C T exonic KCNA5 synonymous SNV KCNA5:NM_002234:exon1:c.C594T:p.D198D Score=594;Name=lod=347 212 51 0.194 328 0 0.000 5.98100550620470054e-20 0.529 --- 240,189,51,0.213 286,286,0,0.000 18.780 60 chr12 6103072 6103072 C T exonic VWF nonsynonymous SNV VWF:NM_000552:exon37:c.G6554A:p.R2185Q Score=435;Name=lod=78 0.068430 0.05 0.041 rs2229446 0.05 0.998476 C 0.74 T 1.0 D 0.999442 N 0.998751 D 4.95 143 29 0.169 219 0 0.000 1.07784610581494906e-11 0.552 --- 149,124,25,0.168 183,182,0,0.000 9.189 5.194 chr12 6425502 6425502 A C exonic PLEKHG6 nonsynonymous SNV PLEKHG6:NM_001144857:exon6:c.A592C:p.T198P,PLEKHG6:NM_001144856:exon7:c.A688C:p.T230P,PLEKHG6:NM_018173:exon7:c.A688C:p.T230P Score=523;Name=lod=178 0.02 0.760133 N 0.75 T 0.0010 B 0.998272 N 0.020161 N 1.93 113 21 0.157 127 0 0.000 4.70413427389031461e-07 0.476 --- 110,93,17,0.155 107,107,0,0.000 5.098 12.662 chr12 6559796 6559796 C T exonic CD27 nonsynonymous SNV CD27:NM_001242:exon4:c.C538T:p.P180S 0.5 0.010989 N 0.22 T 0.0040 B 0.166199 U 0.0 NA -6.51 78 17 0.179 109 0 0.000 9.8637732529611201e-07 0.412 --- 74,60,13,0.178 86,86,0,0.000 4.669 9.16 chr12 6637379 6637379 A G exonic NCAPD2 nonsynonymous SNV NCAPD2:NM_014865:exon25:c.A3184G:p.M1062V Score=571;Name=lod=278 0.46 0.907961 N 0.32 T 0.136 B 0.999986 N 0.005552 N 1.5 184 32 0.148 207 0 0.000 1.66733674817367175e-10 0.438 --- 188,160,28,0.149 180,180,0,0.000 8.526 15.256 chr12 6666741 6666741 G A exonic NOP2 synonymous SNV NOP2:NM_001033714:exon16:c.C1845T:p.S615S,NOP2:NM_001258308:exon16:c.C1857T:p.S619S,NOP2:NM_006170:exon16:c.C1845T:p.S615S,NOP2:NM_001258309:exon17:c.C1956T:p.S652S 126 28 0.182 193 0 0.000 2.9625459133332327e-11 0.321 --- 122,97,25,0.205 153,152,0,0.000 9.442 12.542 chr12 6755998 6755998 T C exonic ACRBP nonsynonymous SNV ACRBP:NM_032489:exon2:c.A224G:p.Q75R Score=415;Name=lod=65 0.1 0.997214 C 0.79 T 0.993 D 0.996308 N 0.058793 N 4.42 137 18 0.116 141 0 0.000 6.19092859494222365e-06 0.389 --- 137,123,14,0.102 121,121,0,0.000 3.927 5.707 chr12 7045577 7045577 G A exonic ATN1 nonsynonymous SNV ATN1:NM_001007026:exon5:c.G1147A:p.A383T,ATN1:NM_001940:exon5:c.G1147A:p.A383T Score=265;Name=lod=16 0.33 0.996787 C 0.39 T 0.011 B 0.957213 U 0.01755 N 2.03 126 26 0.171 164 0 0.000 1.62140340886658178e-09 0.346 --- 135,113,22,0.163 137,136,0,0.000 7.064 7.185 chr12 7046220 7046220 C T exonic ATN1 nonsynonymous SNV ATN1:NM_001007026:exon5:c.C1790T:p.A597V,ATN1:NM_001940:exon5:c.C1790T:p.A597V ID=COSM301721;OCCURENCE=1(central_nervous_system) 0.49 0.957639 C 0.74 T 0.305116 NA 0.423392 U 5.83E-4 N 1.89 283 72 0.203 265 0 0.000 1.41607358370012771e-19 0.528 --- 311,247,64,0.206 236,236,0,0.000 16.960 60 chr12 7047819 7047819 G T exonic ATN1 nonsynonymous SNV ATN1:NM_001007026:exon7:c.G2693T:p.G898V,ATN1:NM_001940:exon7:c.G2693T:p.G898V Score=572;Name=lod=281 0.12 0.999601 C 0.83 T 0.492878 NA 0.998092 U 0.115503 N 4.11 203 31 0.132 238 0 0.000 1.22376918769294456e-10 0.323 --- 201,172,29,0.144 211,211,0,0.000 9.523 11.486 chr12 7522247 7522247 G A exonic CD163L1 nonsynonymous SNV CD163L1:NM_174941:exon15:c.C3745T:p.R1249C 0.000077 0.0005 ID=COSM179778;OCCURENCE=1(large_intestine),1(endometrium) rs142773410 0 0.043448 N 0.96 D 0.994 D 0.029271 U 0.081617 N -3.19 82 17 0.172 120 0 0.000 6.05572669566533311e-07 0.176 --- 93,76,16,0.174 100,100,0,0.000 5.434 8.788 chr12 7639973 7639973 C A exonic CD163 nonsynonymous SNV CD163:NM_004244:exon8:c.G2032T:p.A678S,CD163:NM_203416:exon8:c.G2032T:p.A678S Score=369;Name=lod=42 0 0.980682 C 0.99 D 0.967 D 0.999068 N 0.200483 N 3.8 94 12 0.113 134 0 0.000 3.81738307998040378e-05 0.750 --- 95,83,12,0.126 112,112,0,0.000 4.233 5.372 chr12 7982380 7982380 A G exonic SLC2A14 synonymous SNV SLC2A14:NM_153449:exon6:c.T564C:p.I188I 177 24 0.119 208 0 0.000 1.87563569577039219e-08 0.708 --- 168,145,23,0.137 174,174,0,0.000 7.457 9.285 chr12 8211677 8211677 C T exonic C3AR1 nonsynonymous SNV C3AR1:NM_004054:exon2:c.G1105A:p.A369T 0.89 0.096598 N 0.16 T 0.0 B 0.615423 NA 0.002473 N -2.97 136 25 0.155 142 0 0.000 5.45646360230778611e-08 0.560 --- 135,113,22,0.163 125,125,0,0.000 6.588 11.566 chr12 9265958 9265958 C T exonic A2M nonsynonymous SNV A2M:NM_000014:exon2:c.G268A:p.A90T 0.000154 ID=COSM1181118;OCCURENCE=1(large_intestine) 1 130 17 0.116 173 0 0.000 1.06400397047059614e-06 0.529 --- 126,111,14,0.112 143,143,0,0.000 4.815 6.45 chr12 9322115 9322115 C A exonic PZP stopgain PZP:NM_002864:exon16:c.G1912T:p.G638X 0.14 0.038634 N 0.839205 NA 0.444878 NA 0.247701 U 1.0 A -1.99 117 25 0.176 152 0 0.000 3.79452969242653497e-09 0.680 --- 119,98,21,0.176 125,125,0,0.000 6.979 11.699 chr12 10045621 10045621 C T exonic KLRF2 nonsynonymous SNV KLRF2:NM_001190765:exon4:c.C220T:p.H74Y 62 12 0.162 77 0 0.000 0.000117156309207495831 0.583 --- 62,52,10,0.161 66,66,0,0.000 3.324 8.194 chr12 10758957 10758957 G A exonic MAGOHB stopgain MAGOHB:NM_018048:exon5:c.C364T:p.R122X Score=633;Name=lod=498 1 0.964521 C 0.901036 NA 0.729699 NA 0.999856 U 1.0 D 2.83 43 13 0.232 69 0 0.000 1.23425488787956813e-05 0.462 --- 44,35,9,0.205 57,57,0,0.000 3.469 7.889 chr12 11244043 11244043 C A exonic TAS2R43 nonsynonymous SNV TAS2R43:NM_176884:exon1:c.G786T:p.M262I Score=0.929631;Name=chr12:11165993 115 26 0.184 140 0 0.000 8.37658271936124469e-09 0.615 --- 116,94,22,0.190 126,126,0,0.000 7.522 11.406 chr12 11506142 11506142 C T exonic PRB1 nonsynonymous SNV PRB1:NM_199353:exon4:c.G496A:p.A166T,PRB1:NM_199354:exon4:c.G436A:p.A146T Score=0.943926;Name=chr12:11542977 0.125017 N 0.747109 NA 0.309122 NA 0.652232 NA 0.253601 NA -1.19 248 43 0.148 325 0 0.000 1.69321886343109264e-15 0.767 --- 248,205,42,0.170 280,280,0,0.000 14.700 4.847 chr12 12496033 12496033 G A exonic MANSC1 synonymous SNV MANSC1:NM_018050:exon2:c.C216T:p.N72N Score=251;Name=lod=14 51 10 0.164 53 0 0.000 0.00161149709670401841 0.800 --- 56,46,9,0.164 43,43,0,0.000 2.357 6.631 chr12 13061672 13061672 T C exonic GPRC5A synonymous SNV GPRC5A:NM_003979:exon2:c.T489C:p.N163N 103 16 0.134 104 0 0.000 2.86905361380392508e-05 0.500 --- 105,90,15,0.143 92,92,0,0.000 4.269 13.6 chr12 16516848 16516848 G A exonic MGST1 nonsynonymous SNV MGST1:NM_001260511:exon4:c.G341A:p.R114Q,MGST1:NM_020300:exon4:c.G341A:p.R114Q,MGST1:NM_145764:exon4:c.G341A:p.R114Q,MGST1:NM_145791:exon4:c.G341A:p.R114Q,MGST1:NM_145792:exon4:c.G341A:p.R114Q Score=493;Name=lod=134 0.000077 0 0.999676 C 1.0 D 1.0 D 1.0 D 0.999665 D 4.83 150 17 0.102 219 0 0.000 4.01331481453406178e-07 0.529 --- 144,129,15,0.104 184,184,0,0.000 5.549 10.739 chr12 20783043 20783043 C T exonic PDE3A nonsynonymous SNV PDE3A:NM_001244683:exon5:c.C776T:p.P259L,PDE3A:NM_000921:exon6:c.C1742T:p.P581L Score=259;Name=lod=15 0.1 0.999185 C 1.0 D 0.899 D 0.0724 U 0.92972 D 5.03 77 12 0.135 92 0 0.000 0.000133493559345976978 0.333 --- 76,65,11,0.145 79,79,0,0.000 3.577 5.671 chr12 24048891 24048891 T G exonic SOX5 synonymous SNV SOX5:NM_001261415:exon2:c.A76C:p.R26R,SOX5:NM_006940:exon2:c.A106C:p.R36R,SOX5:NM_152989:exon5:c.A67C:p.R23R,SOX5:NM_001261414:exon6:c.A67C:p.R23R Score=849;Name=lod=3775 77 11 0.125 129 0 0.000 3.29021541847314928e-05 0.455 --- 72,64,8,0.111 102,102,0,0.000 3.170 6.094 chr12 25398281 25398281 C T exonic KRAS nonsynonymous SNV KRAS:NM_004985:exon2:c.G38A:p.G13D,KRAS:NM_033360:exon2:c.G38A:p.G13D Score=706;Name=lod=982 ID=COSM532,COSM1140132;OCCURENCE=2(pleura),34(ovary),1(bone),13(breast),32(stomach),95(haematopoietic_and_lymphoid_tissue),36(soft_tissue),3(urinary_tract),29(pancreas),3(liver),1(genital_tract),3(oesophagus),12(gastrointestinal_tract_(site_indeterminate)),1(skin),20(prostate),93(lung),23(thyroid),4(cervix),2(upper_aerodigestive_tract),2978(large_intestine),9(small_intestine),18(biliary_tract),44(endometrium) 0.016 rs112445441 0 0.998873 C 1.0 D 0.994 D 1.0 D 0.999991 D 5.24 99 25 0.202 144 0 0.000 1.01431665192065496e-09 0.440 --- 100,80,20,0.200 113,113,0,0.000 7.053 14.247 chr12 26275939 26275939 G A exonic BHLHE41 nonsynonymous SNV BHLHE41:NM_030762:exon5:c.C509T:p.A170V Score=647;Name=lod=569 0.56 0.913509 N 0.69 T 0.126 B 0.193984 U 0.067204 N 0.643 230 32 0.122 290 0 0.000 1.52829608973830008e-11 0.500 --- 230,201,28,0.122 244,244,0,0.000 9.214 7.91 chr12 26810809 26810809 C T exonic ITPR2 nonsynonymous SNV ITPR2:NM_002223:exon18:c.G2023A:p.A675T Score=385;Name=lod=49 0.66 0.766132 N 0.41 T 0.0 B 0.587171 N 0.003402 N 0.327 90 16 0.151 127 0 0.000 1.73166091303112975e-06 0.375 --- 95,78,17,0.179 111,111,0,0.000 6.081 8.506 chr12 27543057 27543057 C T exonic ARNTL2 synonymous SNV ARNTL2:NM_001248003:exon7:c.C693T:p.H231H,ARNTL2:NM_001248004:exon7:c.C660T:p.H220H,ARNTL2:NM_001248005:exon7:c.C693T:p.H231H,ARNTL2:NM_001248002:exon8:c.C762T:p.H254H,ARNTL2:NM_020183:exon9:c.C804T:p.H268H 102 23 0.184 136 0 0.000 1.38914868005194387e-08 0.696 --- 103,84,19,0.184 108,108,0,0.000 6.323 60 chr12 27648712 27648712 G A exonic SMCO2 nonsynonymous SNV SMCO2:NM_001145010:exon8:c.G757A:p.E253K 0.02 156 25 0.138 222 0 0.000 7.66824028012111289e-10 0.520 --- 149,127,22,0.148 165,165,0,0.000 7.504 10.803 chr12 27648776 27648776 G T exonic SMCO2 nonsynonymous SNV SMCO2:NM_001145010:exon8:c.G821T:p.R274L 0.21 154 20 0.115 182 0 0.000 3.35053423151558245e-07 0.400 --- 145,124,19,0.133 150,150,0,0.000 6.203 5.897 chr12 31242395 31242395 G A exonic DDX11 nonsynonymous SNV DDX11:NM_001257144:exon8:c.G851A:p.R284H,DDX11:NM_001257145:exon8:c.G773A:p.R258H,DDX11:NM_004399:exon8:c.G851A:p.R284H,DDX11:NM_030653:exon8:c.G851A:p.R284H,DDX11:NM_152438:exon8:c.G851A:p.R284H Score=436;Name=lod=79 Score=0.978886;Name=chr12:9567144 0.005613 0.01 rs58605733 0 0.954713 C 0.99 D 1.0 D 0.999998 D 0.932883 D 1.42 83 15 0.153 130 0 0.000 1.6354036981056122e-06 0.400 --- 77,67,10,0.130 100,100,0,0.000 3.767 12.079 chr12 32875561 32875561 C T exonic DNM1L nonsynonymous SNV DNM1L:NM_005690:exon9:c.C1073T:p.S358L,DNM1L:NM_012062:exon9:c.C1073T:p.S358L,DNM1L:NM_012063:exon9:c.C1073T:p.S358L Score=683;Name=lod=792 ID=COSM1204275;OCCURENCE=1(large_intestine) 0.01 0.999105 C 0.97 D 0.0060 B 0.999998 D 0.873267 D 4.93 73 19 0.207 84 0 0.000 1.88737685208572435e-06 0.421 --- 77,62,15,0.195 71,71,0,0.000 4.471 6.25 chr12 38712172 38712172 G T exonic ALG10B nonsynonymous SNV ALG10B:NM_001013620:exon2:c.G281T:p.G94V Score=627;Name=lod=469 Score=0.953403;Name=chr12:34121012 0.21 0.981971 C 0.82 T 0.0030 B 0.999999 D 0.999564 D 2.36 152 31 0.169 260 0 0.000 2.47538440734790004e-13 0.484 --- 147,122,25,0.170 209,208,1,0.005 8.944 13.095 chr12 40499133 40499133 C T exonic SLC2A13 nonsynonymous SNV SLC2A13:NM_052885:exon1:c.G478A:p.A160T Score=532;Name=lod=194 0.2 0.993161 C 0.7 T 0.028 B 0.924002 N 0.038745 N 3.06 296 59 0.166 404 0 0.000 2.0688029077350664e-21 0.424 --- 313,262,51,0.163 344,344,0,0.000 17.431 9.662 chr12 41337803 41337803 C T exonic CNTN1 nonsynonymous SNV CNTN1:NM_175038:exon12:c.C1481T:p.T494M,CNTN1:NM_001256063:exon14:c.C1514T:p.T505M,CNTN1:NM_001256064:exon14:c.C1514T:p.T505M,CNTN1:NM_001843:exon14:c.C1514T:p.T505M Score=428;Name=lod=73 ID=COSM243757;OCCURENCE=1(breast),1(prostate),1(large_intestine) 0 0.998682 C 1.0 D 1.0 D 1.0 D 0.998189 D 4.02 82 17 0.172 130 0 0.000 2.75500998161711778e-07 0.706 --- 87,69,17,0.198 100,100,0,0.000 6.103 15.109 chr12 46244149 46244149 G C exonic ARID2 nonsynonymous SNV ARID2:NM_152641:exon15:c.G2243C:p.S748T Score=575;Name=lod=290 0.56 0.930981 N 0.64 T 0.0 B 0.991345 N 0.47285 N 1.04 146 34 0.189 211 0 0.000 5.50354511725290899e-13 0.559 --- 155,124,31,0.200 182,182,0,0.000 11.236 60 chr12 46322186 46322186 C T exonic SCAF11 nonsynonymous SNV SCAF11:NM_004719:exon11:c.G1298A:p.C433Y 0.02 0.980637 C 1.0 D 0.999 D 0.94359 N 0.758027 NA 4.45 155 21 0.119 156 1 0.006 1.0560087782341131e-05 0.524 1.000 149,132,17,0.114 136,135,1,0.007 3.923 12.869 chr12 48189748 48189748 C T exonic HDAC7 nonsynonymous SNV HDAC7:NM_015401:exon9:c.G847A:p.A283T Score=598;Name=lod=360 0.08 0.877547 N 0.57 T 0.078 B 0.871042 N 0.662775 D 0.361 150 25 0.143 161 0 0.000 3.77253837942119041e-08 0.280 --- 145,123,22,0.152 132,132,0,0.000 6.498 8.321 chr12 48921844 48921844 C T exonic OR8S1 synonymous SNV OR8S1:NM_001005203:exon2:c.C1038T:p.C346C 97 29 0.230 134 0 0.000 1.15392522512317615e-10 0.483 --- 109,83,25,0.231 104,104,0,0.000 7.865 9.533 chr12 49424718 49424718 G A exonic MLL2 synonymous SNV MLL2:NM_003482:exon40:c.C13629T:p.D4543D Score=672;Name=lod=719 164 31 0.159 227 0 0.000 1.00603994343150394e-11 0.484 --- 160,135,25,0.156 183,183,0,0.000 8.749 7.861 chr12 49426662 49426662 T C exonic MLL2 synonymous SNV MLL2:NM_003482:exon39:c.A11826G:p.Q3942Q 0.000275 rs112586166 479 66 0.121 458 0 0.000 7.57035828387460525e-19 0.530 --- 496,435,59,0.119 416,413,0,0.000 16.281 3.21 chr12 50190921 50190921 G A exonic NCKAP5L nonsynonymous SNV NCKAP5L:NM_001037806:exon8:c.C722T:p.A241V Score=395;Name=lod=54 0.02 223 49 0.180 244 0 0.000 2.9626761403278836e-15 0.388 --- 235,190,45,0.191 210,210,0,0.000 13.346 11.908 chr12 50232442 50232442 G T exonic BCDIN3D synonymous SNV BCDIN3D:NM_181708:exon2:c.C591A:p.P197P Score=602;Name=lod=373 175 26 0.129 204 0 0.000 5.1448850311542424e-09 0.385 --- 175,153,22,0.126 181,181,0,0.000 7.096 12.977 chr12 50748583 50748583 C T exonic FAM186A nonsynonymous SNV FAM186A:NM_001145475:exon4:c.G2032A:p.A678T Score=333;Name=lod=30 0.02 156 37 0.192 147 0 0.000 2.25598461381679845e-10 0.622 --- 175,143,32,0.183 139,139,0,0.000 8.593 60 chr12 51899662 51899662 A G exonic SLC4A8 nonsynonymous SNV SLC4A8:NM_001039960:exon24:c.A3217G:p.T1073A,SLC4A8:NM_001258401:exon24:c.A3058G:p.T1020A Score=588;Name=lod=328 0.01 30 10 0.250 38 0 0.000 0.0010493344453028705 0.700 --- 31,23,8,0.258 30,30,0,0.000 2.331 8.639 chr12 52400895 52400895 C T exonic GRASP nonsynonymous SNV GRASP:NM_181711:exon1:c.C92T:p.A31V Score=284;Name=lod=19 0.17 0.940438 N 0.8 T 0.275 P 0.805978 N 0.002926 N 1.46 226 27 0.107 224 0 0.000 1.89823802514751713e-08 0.556 --- 218,192,26,0.119 189,188,0,0.000 7.140 4.63 chr12 52710721 52710721 G A exonic KRT83 synonymous SNV KRT83:NM_002282:exon5:c.C837T:p.I279I Score=554;Name=lod=237 207 77 0.271 289 0 0.000 8.13130296037422944e-27 0.532 --- 233,169,64,0.275 235,235,0,0.000 21.578 60 chr12 52774322 52774322 C T exonic KRT84 nonsynonymous SNV KRT84:NM_033045:exon7:c.G1249A:p.E417K Score=295;Name=lod=21 0.01 0.998724 C 1.0 D 0.974 D 0.999882 D 0.243491 N 4.6 182 36 0.165 218 0 0.000 6.02412721823366734e-12 0.222 --- 185,152,33,0.178 180,180,0,0.000 10.274 14.778 chr12 52824362 52824362 C T exonic KRT75 nonsynonymous SNV KRT75:NM_004693:exon5:c.G998A:p.R333H Score=451;Name=lod=91 0.000231 ID=COSM190993;OCCURENCE=1(large_intestine) rs138832844 0.02 0.999027 C 1.0 D 0.997 D 0.99998 D 0.953433 D 5.38 135 18 0.118 134 0 0.000 7.94339109272590595e-06 0.722 --- 128,110,16,0.127 105,104,0,0.000 4.108 5.787 chr12 52845379 52845379 C T exonic KRT6B nonsynonymous SNV KRT6B:NM_005555:exon1:c.G484A:p.E162K Score=606;Name=lod=387 Score=0.926182;Name=chr12:52862722 0.01 0.959452 C 0.99 D 0.943 D 0.999995 D 0.79471 D 2.12 433 58 0.118 497 0 0.000 4.02890127092390762e-19 0.552 --- 411,366,45,0.109 427,427,0,0.000 14.487 7.123 chr12 53185503 53185503 C T exonic KRT3 nonsynonymous SNV KRT3:NM_057088:exon6:c.G1286A:p.R429Q 0.26 108 15 0.122 136 0 0.000 8.75578880106644656e-06 0.267 --- 109,93,15,0.139 110,110,0,0.000 4.804 6.197 chr12 53225407 53225407 G A exonic KRT79 nonsynonymous SNV KRT79:NM_175834:exon2:c.C481T:p.R161W Score=590;Name=lod=333 0.000077 ID=COSM1512502;OCCURENCE=1(lung) 0 0.999609 C 0.98 D 1.0 D 0.999865 D 0.997106 D 4.14 65 10 0.133 91 0 0.000 0.000249599234158760282 0.400 --- 68,61,7,0.103 79,79,0,0.000 2.419 3.165 chr12 53664500 53664500 T C exonic ESPL1 synonymous SNV ESPL1:NM_012291:exon5:c.T1287C:p.S429S Score=295;Name=lod=21 91 16 0.150 93 0 0.000 2.78842861205873764e-05 0.375 --- 85,73,11,0.131 78,77,0,0.000 3.120 10.168 chr12 53680427 53680427 C A exonic ESPL1 nonsynonymous SNV ESPL1:NM_012291:exon18:c.C3907A:p.P1303T 0.96 0.246587 N 0.82 T 0.0010 B 0.99401 N 0.02434 N -0.809 98 24 0.197 113 0 0.000 4.95697679774669236e-08 0.500 --- 108,86,22,0.204 104,104,0,0.000 6.807 9.255 chr12 53701307 53701307 G T exonic AAAS nonsynonymous SNV AAAS:NM_001173466:exon15:c.C1508A:p.P503H,AAAS:NM_015665:exon16:c.C1607A:p.P536H 0.02 0.953552 C 0.99 D 0.520766 NA 0.836534 N 0.00185 N 0.591 158 27 0.146 182 0 0.000 5.45524822987172398e-09 0.556 --- 155,130,25,0.161 152,152,0,0.000 7.672 8.684 chr12 53875002 53875002 A G exonic MAP3K12 synonymous SNV MAP3K12:NM_001193511:exon14:c.T2643C:p.V881V,MAP3K12:NM_006301:exon15:c.T2544C:p.V848V Score=610;Name=lod=403 79 9 0.102 116 0 0.000 0.000405248435006032455 0.556 --- 75,67,8,0.107 93,92,0,0.000 2.875 4.233 chr12 53895232 53895232 T C exonic TARBP2 nonsynonymous SNV TARBP2:NM_134323:exon1:c.T40C:p.C14R Score=455;Name=lod=94 0.03 0.997447 C 0.9 T 0.514642 NA 0.999979 D 0.039232 N 3.97 165 19 0.103 140 0 0.000 1.57131175449302871e-05 0.632 --- 148,134,14,0.095 115,115,0,0.000 3.438 5.376 chr12 53918464 53918464 G A exonic ATF7 nonsynonymous SNV ATF7:NM_001130060:exon10:c.C946T:p.R316C,ATF7:NM_006856:exon10:c.C1009T:p.R337C Score=626;Name=lod=466 0 166 23 0.122 167 0 0.000 2.54116373089580323e-07 0.304 --- 152,130,21,0.139 130,130,0,0.000 5.664 8.384 chr12 53926976 53926976 C A exonic ATF7 nonsynonymous SNV ATF7:NM_001130060:exon7:c.G565T:p.G189W,ATF7:NM_006856:exon7:c.G628T:p.G210W Score=598;Name=lod=359 0 95 21 0.181 125 1 0.008 1.12828290952131958e-06 0.571 0.000 91,75,16,0.176 95,93,2,0.021 3.494 9.17 chr12 54063074 54063074 G A exonic ATP5G2 nonsynonymous SNV ATP5G2:NM_001002031:exon4:c.C217T:p.R73C,ATP5G2:NM_005176:exon4:c.C340T:p.R114C Score=473;Name=lod=112 0.02 0.995214 C 1.0 D 0.0060 B 0.999854 N 0.964053 D 3.41 155 31 0.167 209 0 0.000 1.71734258360213684e-11 0.419 --- 155,129,26,0.168 175,175,0,0.000 9.059 13.127 chr12 54107991 54107991 C T exonic CALCOCO1 nonsynonymous SNV CALCOCO1:NM_001143682:exon11:c.G1262A:p.R421H,CALCOCO1:NM_020898:exon12:c.G1517A:p.R506H Score=532;Name=lod=193 0.01 0.995429 C 0.89 T 1.0 D 0.997168 N 0.583386 D 2.88 60 12 0.167 79 0 0.000 8.20224289934744973e-05 0.500 --- 62,52,10,0.161 66,66,0,0.000 3.324 5.861 chr12 54394426 54394426 C T exonic HOXC9 nonsynonymous SNV HOXC9:NM_006897:exon1:c.C454T:p.R152C Score=789;Name=lod=2150 0.01 0.997612 C 0.96 D 0.996 D 0.999962 D 0.956461 D 3.46 176 24 0.120 255 0 0.000 1.19195239861337242e-09 0.333 --- 172,151,21,0.122 215,215,0,0.000 7.709 5.409 chr12 56398706 56398706 G T exonic SUOX synonymous SNV SUOX:NM_001032387:exon4:c.G1533T:p.V511V,SUOX:NM_001032386:exon5:c.G1533T:p.V511V,SUOX:NM_000456:exon6:c.G1533T:p.V511V Score=573;Name=lod=283 190 27 0.124 218 0 0.000 2.95133259684933125e-09 0.519 --- 183,162,21,0.115 182,182,0,0.000 6.285 11.832 chr12 56478854 56478854 G A exonic ERBB3 nonsynonymous SNV ERBB3:NM_001005915:exon3:c.G310A:p.V104M,ERBB3:NM_001982:exon3:c.G310A:p.V104M Score=397;Name=lod=55 ID=COSM20710,COSM1152549,COSM172423;OCCURENCE=1(ovary),1(urinary_tract),5(large_intestine),1(endometrium) 0 0.994044 C 0.99 D 0.945 D 0.999714 D 0.0 N 4.36 118 26 0.181 128 0 0.000 2.11473941130355388e-08 0.692 --- 122,102,20,0.164 112,112,0,0.000 5.947 13.374 chr12 56679729 56679729 T C exonic CS nonsynonymous SNV CS:NM_004077:exon3:c.A172G:p.T58A Score=645;Name=lod=557 0.21 0.99691 C 0.76 T 0.0 B 0.999993 D 0.960793 D 3.74 78 10 0.114 80 0 0.000 0.00164001487464621664 0.800 --- 73,64,8,0.111 66,66,0,0.000 2.175 3.408 chr12 57572741 57572741 C A exonic LRP1 synonymous SNV LRP1:NM_002332:exon28:c.C4675A:p.R1559R Score=585;Name=lod=318 153 39 0.203 158 0 0.000 1.31522202746235711e-11 0.667 --- 156,123,33,0.212 121,120,0,0.000 8.859 9.282 chr12 57575051 57575051 G A exonic LRP1 nonsynonymous SNV LRP1:NM_002332:exon34:c.G5639A:p.R1880Q Score=436;Name=lod=79 0.44 0.999404 C 0.58 T 0.334 P 0.999586 D 0.542297 D 4.38 173 44 0.203 223 0 0.000 2.65581101517909879e-15 0.568 --- 181,147,33,0.183 187,186,1,0.005 9.596 11.248 chr12 57589465 57589465 G A exonic LRP1 nonsynonymous SNV LRP1:NM_002332:exon53:c.G8462A:p.R2821H 0.12 0.999482 C 0.87 T 0.881 D 0.96806 N 0.089509 N 4.48 168 21 0.111 189 0 0.000 2.64923593814199803e-07 0.524 --- 159,140,19,0.119 168,168,0,0.000 6.205 7.428 chr12 58001362 58001362 T C exonic DTX3 nonsynonymous SNV DTX3:NM_178502:exon5:c.T716C:p.V239A Score=550;Name=lod=229 0.12 0.995734 C 0.743424 NA 0.243 P 0.990232 N 0.06608 N 4.18 169 32 0.159 219 0 0.000 1.41899522066994397e-11 0.500 --- 173,146,27,0.156 175,175,0,0.000 8.676 13.297 chr12 58088089 58088089 C T exonic OS9 nonsynonymous SNV OS9:NM_001017956:exon1:c.C145T:p.P49S,OS9:NM_001017957:exon1:c.C145T:p.P49S,OS9:NM_001017958:exon1:c.C145T:p.P49S,OS9:NM_001261420:exon1:c.C145T:p.P49S,OS9:NM_001261421:exon1:c.C145T:p.P49S,OS9:NM_001261422:exon1:c.C145T:p.P49S,OS9:NM_001261423:exon1:c.C145T:p.P49S,OS9:NM_006812:exon1:c.C145T:p.P49S Score=598;Name=lod=358 0 0.998991 C 0.99 D 0.999 D 1.0 D 0.998732 D 4.83 125 21 0.144 151 0 0.000 1.51974906988104997e-07 0.286 --- 122,105,17,0.139 130,130,0,0.000 5.624 5.417 chr12 58152083 58152083 G T exonic MARCH9 nonsynonymous SNV MARCH9:NM_138396:exon3:c.G706T:p.G236C Score=706;Name=lod=991 0 0.999763 C 0.97 D 0.971 D 1.0 D 0.779881 NA 5.08 126 24 0.160 140 0 0.000 5.96194285124386957e-08 0.375 --- 129,109,20,0.155 127,126,1,0.008 4.990 9.319 chr12 58157415 58157415 T A exonic CYP27B1 nonsynonymous SNV CYP27B1:NM_000785:exon8:c.A1392T:p.E464D Score=553;Name=lod=236 0 0.891115 N 1.0 D 0.997 D 0.999994 D 0.998198 D 2.17 98 13 0.117 124 0 0.000 3.93336905608686972e-05 0.692 --- 112,95,16,0.144 115,114,0,0.000 5.166 4.895 chr12 58158570 58158570 A C exonic CYP27B1 nonsynonymous SNV CYP27B1:NM_000785:exon5:c.T930G:p.N310K Score=487;Name=lod=127 0.02 0.790121 N 0.97 D 0.852 D 1.0 D 0.99968 D 0.186 115 14 0.109 141 0 0.000 2.18974224447679842e-05 0.500 --- 117,103,13,0.112 126,126,0,0.000 4.312 11.39 chr12 58166636 58166636 G A exonic METTL21B synonymous SNV METTL21B:NM_015433:exon1:c.G129A:p.T43T,METTL21B:NM_206914:exon1:c.G129A:p.T43T Score=539;Name=lod=206 229 32 0.123 209 0 0.000 4.16871021569186252e-09 0.375 --- 220,196,24,0.109 185,185,0,0.000 6.476 11.773 chr12 64011116 64011116 A G exonic DPY19L2 nonsynonymous SNV DPY19L2:NM_173812:exon11:c.T1186C:p.S396P Score=489;Name=lod=130 Score=0.973282;Name=chr7:35139141 0 0.984725 C 1.0 D 0.999 D 1.0 D 0.846582 D 1.87 53 8 0.131 70 0 0.000 0.00170239419784852215 0.500 --- 45,39,6,0.133 53,53,0,0.000 2.111 9.72 chr12 66700272 66700272 C A exonic HELB nonsynonymous SNV HELB:NM_033647:exon3:c.C755A:p.P252Q Score=437;Name=lod=80 0.01 0.999105 C 0.93 T 0.999 D 0.999984 D 0.57949 D 5.46 60 22 0.268 108 0 0.000 1.490761881078302e-09 0.364 --- 69,51,18,0.261 88,88,0,0.000 7.044 11.578 chr12 66990656 66990656 G A exonic GRIP1 nonsynonymous SNV GRIP1:NM_001178074:exon2:c.C107T:p.A36V,GRIP1:NM_021150:exon2:c.C107T:p.A36V Score=668;Name=lod=692 0.04 0.999721 C 0.93 T 0.0010 B 0.999947 D 0.978581 D 5.48 46 6 0.115 78 0 0.000 0.00341390465726667888 0.500 --- 44,39,5,0.114 62,62,0,0.000 1.970 5.68 chr12 70195423 70195423 A G exonic RAB3IP nonsynonymous SNV RAB3IP:NM_001024647:exon6:c.A434G:p.N145S,RAB3IP:NM_022456:exon8:c.A1052G:p.N351S,RAB3IP:NM_175623:exon8:c.A1100G:p.N367S,RAB3IP:NM_175624:exon8:c.A1052G:p.N351S,RAB3IP:NM_175625:exon8:c.A1100G:p.N367S Score=652;Name=lod=593 0.02 0.997977 C 0.91 T 0.855 D 1.0 D 0.999472 D 4.82 92 11 0.107 91 0 0.000 0.000897537646187178454 0.636 --- 85,76,9,0.106 75,75,0,0.000 2.448 9.305 chr12 70970414 70970414 C T exonic PTPRB nonsynonymous SNV PTPRB:NM_001206971:exon8:c.G1666A:p.V556M,PTPRB:NM_001206972:exon9:c.G1936A:p.V646M,PTPRB:NM_002837:exon9:c.G1936A:p.V646M,PTPRB:NM_001109754:exon11:c.G2590A:p.V864M Score=500;Name=lod=144 0.15 40 8 0.167 52 0 0.000 0.00202779979546471766 0.375 --- 47,38,9,0.191 48,48,0,0.000 2.936 4.945 chr12 72050868 72050868 C T exonic ZFC3H1 nonsynonymous SNV ZFC3H1:NM_144982:exon2:c.G812A:p.S271N Score=672;Name=lod=720 0.24 0.999247 C 0.53 T 0.0030 B 0.997062 N 0.109252 N 3.98 171 58 0.253 209 0 0.000 1.0474884891758177e-18 0.414 --- 194,147,47,0.242 171,170,0,0.000 14.113 60 chr12 73014937 73014937 C T exonic TRHDE nonsynonymous SNV TRHDE:NM_013381:exon14:c.C2384T:p.P795L Score=617;Name=lod=431 0.01 0.999222 C 0.97 D 0.815 P 1.0 D 0.999525 D 5.07 50 10 0.167 74 0 0.000 0.000206762130905502497 0.500 --- 48,40,8,0.167 62,61,0,0.000 3.003 8.321 chr12 76784322 76784322 T C exonic OSBPL8 nonsynonymous SNV OSBPL8:NM_001003712:exon10:c.A919G:p.K307E,OSBPL8:NM_020841:exon11:c.A1045G:p.K349E Score=679;Name=lod=763 0.6 0.997352 C 0.0 T 0.827 P 1.0 D 0.93598 D 5.0 113 30 0.210 169 0 0.000 1.09225907089081656e-11 0.433 --- 116,94,22,0.190 135,135,0,0.000 7.887 60 chr12 77259993 77259993 G A exonic CSRP2 synonymous SNV CSRP2:NM_001321:exon2:c.C48T:p.T16T Score=543;Name=lod=215 92 14 0.132 114 0 0.000 2.25964247911024461e-05 0.429 --- 82,73,9,0.110 88,88,0,0.000 2.954 6.922 chr12 78444746 78444746 T A exonic NAV3 nonsynonymous SNV NAV3:NM_014903:exon11:c.T2335A:p.F779I Score=437;Name=lod=80 0 0.998238 C 0.99 D 0.503 P 0.999626 U 0.584521 D 5.44 178 33 0.156 264 0 0.000 5.2153755085969129e-13 0.394 --- 168,142,26,0.155 199,199,0,0.000 9.316 9.841 chr12 80712444 80712444 A T exonic OTOGL nonsynonymous SNV OTOGL:NM_173591:exon32:c.A3726T:p.L1242F 118 24 0.169 213 0 0.000 7.94012225065175193e-11 0.333 --- 121,101,20,0.165 177,177,0,0.000 8.267 8.953 chr12 88433990 88433990 A G exonic C12orf29 synonymous SNV C12orf29:NM_001009894:exon2:c.A156G:p.A52A Score=613;Name=lod=412 50 15 0.231 84 0 0.000 1.41888779164477623e-06 0.467 --- 51,42,9,0.176 66,66,0,0.000 3.434 7.023 chr12 91348284 91348284 G T exonic CCER1 nonsynonymous SNV CCER1:NM_152638:exon1:c.C236A:p.P79Q 0 0.999516 C 1.0 D 0.644854 NA 0.997911 N 0.367385 N 4.52 225 39 0.148 307 0 0.000 1.68837939017877252e-14 0.487 --- 223,190,33,0.148 255,255,0,0.000 11.518 11.711 chr12 92380438 92380438 C T exonic LOC256021 synonymous SNV LOC256021:NM_001256374:exon5:c.G255A:p.E85E 79 17 0.177 136 0 0.000 1.23675326702020164e-07 0.412 --- 80,65,15,0.188 100,100,0,0.000 5.630 11.967 chr12 95451525 95451525 G A exonic NR2C1 nonsynonymous SNV NR2C1:NM_001032287:exon6:c.C674T:p.T225I,NR2C1:NM_001127362:exon6:c.C674T:p.T225I,NR2C1:NM_003297:exon6:c.C674T:p.T225I Score=548;Name=lod=224 0.01 0.999628 C 0.99 D 0.838 P 0.999997 D 0.695888 D 5.25 104 26 0.200 118 0 0.000 1.43602708428103236e-08 0.423 --- 105,87,18,0.171 100,100,0,0.000 5.427 15.955 chr12 95535210 95535210 G A exonic FGD6 nonsynonymous SNV FGD6:NM_018351:exon6:c.C2791T:p.L931F Score=650;Name=lod=585 0.24 0.999678 C 0.81 T 0.583 P 0.999681 D 0.974167 D 5.36 139 16 0.103 199 0 0.000 1.15515177236442733e-06 0.562 --- 124,110,12,0.098 155,153,0,0.000 4.373 9.454 chr12 96389589 96389589 G A exonic HAL nonsynonymous SNV HAL:NM_001258334:exon2:c.C100T:p.R34C,HAL:NM_002108:exon2:c.C100T:p.R34C Score=503;Name=lod=147 0 0.863551 N 1.0 D 1.0 D 1.0 D 0.994677 D -0.28 116 23 0.165 171 0 0.000 3.26893283512488831e-09 0.522 --- 116,97,19,0.164 147,147,0,0.000 7.142 11.287 chr12 96409441 96409441 G A exonic LTA4H nonsynonymous SNV LTA4H:NM_000895:exon11:c.C979T:p.R327C,LTA4H:NM_001256643:exon11:c.C907T:p.R303C,LTA4H:NM_001256644:exon11:c.C907T:p.R303C Score=514;Name=lod=164 0.000077 rs201124482 0.01 0.999825 C 0.97 D 1.0 D 1.0 D 0.999975 D 5.82 48 14 0.226 69 0 0.000 1.18797353684443061e-05 0.357 --- 51,41,10,0.196 51,51,0,0.000 2.921 14.913 chr12 99007448 99007448 C A exonic IKBIP nonsynonymous SNV IKBIP:NM_201612:exon3:c.G968T:p.S323I Score=576;Name=lod=292 0.03 0.885193 N 0.89 T 0.454415 NA 0.825738 NA 8.0E-6 N 2.36 51 12 0.190 64 0 0.000 0.000124102786356087908 0.667 --- 57,45,12,0.211 58,57,0,0.000 3.592 10.106 chr12 100708392 100708392 G T exonic SCYL2 nonsynonymous SNV SCYL2:NM_017988:exon8:c.G1095T:p.K365N Score=407;Name=lod=60 0.05 0.999487 C 0.93 T 0.074 B 1.0 D 0.562779 NA 5.0 46 6 0.115 85 0 0.000 0.00247716585352264047 0.333 --- 49,43,6,0.122 73,72,1,0.014 1.782 5.69 chr12 100732521 100732521 C T exonic SCYL2 synonymous SNV SCYL2:NM_017988:exon18:c.C2361T:p.P787P Score=633;Name=lod=500 Score=0.94324;Name=chr2:202274022 0.000077 rs149703920 126 30 0.192 184 0 0.000 1.33756665132253575e-11 0.433 --- 134,106,27,0.203 145,145,0,0.000 9.309 11.57 chr12 101473004 101473004 G A exonic ANO4 nonsynonymous SNV ANO4:NM_178826:exon14:c.G1241A:p.R414Q Score=632;Name=lod=494 1 0.999542 C 0.0 T 0.999 D 0.999997 D 0.218711 N 5.1 76 9 0.106 90 0 0.000 0.00119634997622900707 0.556 --- 75,66,9,0.120 76,76,0,0.000 2.847 9.113 chr12 101603282 101603282 G T exonic SLC5A8 synonymous SNV SLC5A8:NM_145913:exon1:c.C345A:p.T115T Score=564;Name=lod=262 51 9 0.150 79 0 0.000 0.00036077879521626861 0.444 --- 60,51,9,0.150 90,89,1,0.011 2.920 5.722 chr12 104337526 104337526 C A exonic HSP90B1 nonsynonymous SNV HSP90B1:NM_003299:exon14:c.C1901A:p.A634D Score=480;Name=lod=119 0 0.99918 C 0.99 D 0.846 P 1.0 D 0.999997 D 5.54 118 14 0.106 125 0 0.000 9.03504215924812826e-05 0.786 --- 114,102,12,0.105 104,104,0,0.000 3.387 4.279 chr12 105467722 105467722 A G exonic ALDH1L2 nonsynonymous SNV ALDH1L2:NM_001034173:exon2:c.T110C:p.V37A Score=536;Name=lod=201 0 0.998555 C 1.0 D 0.965 D 1.0 D 0.999998 D 5.15 192 23 0.107 193 0 0.000 2.37527692508282013e-07 0.522 --- 159,142,17,0.107 143,142,0,0.000 4.844 10.622 chr12 105538176 105538176 G A exonic KIAA1033 nonsynonymous SNV KIAA1033:NM_015275:exon21:c.G2122A:p.A708T Score=503;Name=lod=148 0.08 0.999801 C 0.63 T 0.038 B 1.0 D 0.975574 D 5.73 78 17 0.179 114 0 0.000 6.42613555685598071e-07 0.471 --- 82,67,15,0.183 96,96,0,0.000 5.378 12.917 chr12 108620877 108620877 C T exonic WSCD2 synonymous SNV WSCD2:NM_014653:exon6:c.C915T:p.S305S Score=477;Name=lod=116 169 47 0.218 257 0 0.000 4.77360428498132596e-18 0.468 --- 170,135,35,0.206 202,202,0,0.000 12.821 60 chr12 108938968 108938968 C T exonic SART3 nonsynonymous SNV SART3:NM_014706:exon4:c.G676A:p.A226T Score=445;Name=lod=86 0.42 0.999319 C 0.0 T 0.0010 B 0.999929 D 0.726673 D 5.72 130 18 0.122 144 0 0.000 4.51016277540784697e-06 0.500 --- 117,101,16,0.137 117,117,0,0.000 4.754 7.286 chr12 108985455 108985455 C T exonic TMEM119 synonymous SNV TMEM119:NM_181724:exon2:c.G705A:p.P235P 0.000077 ID=COSM1267994;OCCURENCE=1(oesophagus) 173 40 0.188 204 0 0.000 3.38779892305773402e-13 0.400 --- 190,155,35,0.184 181,181,0,0.000 10.841 8.952 chr12 109185983 109185983 C A exonic SSH1 nonsynonymous SNV SSH1:NM_001161331:exon13:c.G2005T:p.V669L,SSH1:NM_001161330:exon14:c.G1972T:p.V658L 0 208 24 0.103 263 0 0.000 6.48960872767886417e-09 0.667 --- 195,174,21,0.108 219,219,0,0.000 7.127 7.338 chr12 111158931 111158931 T C exonic PPP1CC nonsynonymous SNV PPP1CC:NM_001244974:exon7:c.A922G:p.R308G,PPP1CC:NM_002710:exon7:c.A922G:p.R308G Score=597;Name=lod=357 0.01 0.998 C 0.97 D 0.876 D 1.0 D 0.991502 D 5.3 78 18 0.188 75 0 0.000 1.72050591901295271e-05 0.333 --- 77,61,15,0.197 62,62,0,0.000 3.928 15.955 chr12 111350944 111350944 G A exonic MYL2 nonsynonymous SNV MYL2:NM_000432:exon6:c.C358T:p.R120W 0 0.198139 N 1.0 D 0.512 P 0.851233 N 0.983501 D -1.48 109 17 0.135 131 0 0.000 3.03153079512950791e-06 0.529 --- 113,98,15,0.133 113,113,0,0.000 4.430 12.158 chr12 111776153 111776153 C T exonic CUX2 nonsynonymous SNV CUX2:NM_015267:exon20:c.C3260T:p.S1087F Score=678;Name=lod=758 0 0.998691 C 0.99 D 0.979 D 1.0 D 0.999973 D 5.1 121 30 0.199 163 0 0.000 5.51100997784930077e-11 0.433 --- 121,98,23,0.190 130,130,0,0.000 7.807 9.928 chr12 112308944 112308944 T C exonic MAPKAPK5 nonsynonymous SNV MAPKAPK5:NM_003668:exon7:c.T539C:p.L180S,MAPKAPK5:NM_139078:exon7:c.T539C:p.L180S Score=674;Name=lod=732 0 82 10 0.109 90 0 0.000 0.00151352908914550924 0.400 --- 77,67,9,0.118 71,71,0,0.000 2.501 9.093 chr12 112623098 112623098 G A exonic HECTD4 synonymous SNV HECTD4:NM_001109662:exon61:c.C9270T:p.D3090D Score=535;Name=lod=199 161 37 0.187 191 0 0.000 2.7937129535236752e-12 0.486 --- 172,138,34,0.198 158,158,0,0.000 10.359 13.254 chr12 112654936 112654936 A G exonic HECTD4 nonsynonymous SNV HECTD4:NM_001109662:exon46:c.T6736C:p.S2246P Score=363;Name=lod=40 0.01 132 36 0.214 150 0 0.000 2.22008868332686908e-11 0.444 --- 136,108,26,0.194 127,125,0,0.000 7.950 9.908 chr12 113386964 113386964 G A exonic OAS3 nonsynonymous SNV OAS3:NM_006187:exon6:c.G1328A:p.R443H 0.000079 0.13 99 27 0.214 163 2 0.012 4.35044963956123376e-09 0.370 0.500 115,91,24,0.209 146,144,2,0.014 7.079 13.379 chr12 113533164 113533164 C T exonic DTX1 nonsynonymous SNV DTX1:NM_004416:exon8:c.C1583T:p.T528I Score=555;Name=lod=241 0 0.996444 C 1.0 D 0.94 D 1.0 D 0.74911 D 4.19 266 34 0.113 307 0 0.000 1.44050532887226708e-11 0.500 --- 259,228,31,0.120 254,254,0,0.000 9.428 60 chr12 114385195 114385195 T C exonic RBM19 nonsynonymous SNV RBM19:NM_001146698:exon11:c.A1351G:p.M451V,RBM19:NM_001146699:exon11:c.A1351G:p.M451V,RBM19:NM_016196:exon11:c.A1351G:p.M451V Score=521;Name=lod=174 0.11 0.954504 C 0.98 D 0.063 B 1.0 D 0.990976 D 2.75 149 38 0.203 171 0 0.000 2.64204906744641226e-12 0.447 --- 152,121,30,0.199 142,140,0,0.000 9.184 60 chr12 114823287 114823287 A G exonic TBX5 nonsynonymous SNV TBX5:NM_080717:exon6:c.T599C:p.M200T,TBX5:NM_000192:exon7:c.T749C:p.M250T,TBX5:NM_181486:exon7:c.T749C:p.M250T Score=620;Name=lod=441 0.06 0.99818 C 0.78 T 0.07 B 0.999977 D 0.999085 D 4.92 61 16 0.208 83 0 0.000 3.36721689439426715e-06 0.500 --- 57,44,13,0.228 62,62,0,0.000 4.504 14.091 chr12 116434325 116434325 T C exonic MED13L synonymous SNV MED13L:NM_015335:exon16:c.A2952G:p.Q984Q 136 26 0.160 240 0 0.000 1.49737175113088374e-11 0.654 --- 128,109,19,0.148 192,191,0,0.000 7.908 10.584 chr12 117664519 117664519 C T exonic NOS1 nonsynonymous SNV NOS1:NM_001204213:exon23:c.G2665A:p.A889T,NOS1:NM_001204214:exon23:c.G2665A:p.A889T,NOS1:NM_000620:exon24:c.G3673A:p.A1225T,NOS1:NM_001204218:exon25:c.G3775A:p.A1259T Score=585;Name=lod=319 0.42 0.96794 C 0.700196 NA 0.0 B 0.984238 N 0.202947 N 1.59 69 8 0.104 81 0 0.000 0.00261555178552400493 0.500 --- 60,54,6,0.100 64,64,0,0.000 1.950 6.251 chr12 118610451 118610451 G A exonic TAOK3 synonymous SNV TAOK3:NM_016281:exon17:c.C1710T:p.D570D Score=732;Name=lod=1259 61 12 0.164 83 0 0.000 6.54255884571020983e-05 0.333 --- 66,56,9,0.138 73,72,0,0.000 3.049 4.14 chr12 119942914 119942914 G A exonic CCDC60 nonsynonymous SNV CCDC60:NM_178499:exon7:c.G689A:p.R230H ID=COSM202207;OCCURENCE=2(large_intestine) 0.02 0.855798 N 1.0 D 0.043 B 0.947227 N 0.387634 N 1.41 102 17 0.143 142 0 0.000 8.15874059557169492e-07 0.941 --- 107,90,17,0.159 116,116,0,0.000 5.733 8.862 chr12 120593453 120593453 C T exonic GCN1L1 nonsynonymous SNV GCN1L1:NM_006836:exon29:c.G3383A:p.R1128Q Score=612;Name=lod=411 0.000081 0.09 0.999098 C 0.824918 NA 0.371 P 0.99999 D 0.95553 D 5.45 86 16 0.157 90 0 0.000 2.46272886887657145e-05 0.625 --- 82,69,13,0.159 76,76,0,0.000 3.791 8.711 chr12 121880588 121880588 G T exonic KDM2B nonsynonymous SNV KDM2B:NM_001005366:exon18:c.C2449A:p.L817I,KDM2B:NM_032590:exon19:c.C2656A:p.L886I 0 0.992604 C 1.0 D 0.235 P 0.981897 N 0.345733 N 3.88 180 34 0.159 222 0 0.000 7.2807495014576294e-12 0.324 --- 179,146,33,0.184 187,187,0,0.000 10.971 10.96 chr12 122246136 122246136 T A exonic SETD1B stopgain SETD1B:NM_015048:exon4:c.T567A:p.Y189X Score=576;Name=lod=291 63 11 0.149 88 0 0.000 0.000117054136159533207 0.455 --- 64,55,9,0.141 75,75,0,0.000 3.173 7.174 chr12 122295296 122295296 C T exonic HPD nonsynonymous SNV HPD:NM_002150:exon4:c.G136A:p.A46T,HPD:NM_001171993:exon6:c.G19A:p.A7T Score=481;Name=lod=120 0 0.998849 C 1.0 D 0.995 D 1.0 D 0.999932 D 5.23 41 9 0.180 57 0 0.000 0.000698778769146814239 0.667 --- 39,31,8,0.205 51,51,0,0.000 3.100 9.909 chr12 122691847 122691847 G A exonic B3GNT4 nonsynonymous SNV B3GNT4:NM_030765:exon3:c.G1049A:p.R350H Score=525;Name=lod=182 0.000231 0.0005 rs146461022 0.04 0.951026 C 0.95 T 0.926 D 0.924119 N 0.416543 N 2.19 177 37 0.173 239 0 0.000 1.48016097943647196e-13 0.514 --- 172,143,29,0.169 195,194,0,0.000 10.103 60 chr12 123335438 123335438 T C exonic HIP1R synonymous SNV HIP1R:NM_003959:exon6:c.T495C:p.A165A Score=352;Name=lod=36 68 12 0.150 67 0 0.000 0.000494259867419093667 0.583 --- 67,59,8,0.119 53,53,0,0.000 2.055 7.377 chr12 123352148 123352148 C T exonic VPS37B nonsynonymous SNV VPS37B:NM_024667:exon4:c.G373A:p.A125T Score=446;Name=lod=87 0.02 0.979012 C 0.98 D 0.074 B 1.0 D 0.999964 D 4.18 126 34 0.213 121 0 0.000 1.49750425149933064e-09 0.324 --- 135,107,28,0.207 100,99,0,0.000 7.238 12.625 chr12 123424682 123424682 G A exonic ABCB9 synonymous SNV ABCB9:NM_001243013:exon8:c.C1530T:p.Y510Y,ABCB9:NM_019624:exon8:c.C1590T:p.Y530Y,ABCB9:NM_001243014:exon9:c.C1719T:p.Y573Y,ABCB9:NM_019625:exon9:c.C1719T:p.Y573Y,ABCB9:NM_203444:exon9:c.C1719T:p.Y573Y Score=574;Name=lod=287 0.000077 206 50 0.195 207 0 0.000 1.93544187747279748e-14 0.640 --- 211,170,41,0.194 167,166,0,0.000 10.910 60 chr12 123471201 123471201 T C exonic PITPNM2 nonsynonymous SNV PITPNM2:NM_020845:exon23:c.A3589G:p.I1197V Score=546;Name=lod=221 1 0.958793 C 0.0 T 0.907 D 0.999994 D 0.913579 D 3.99 245 71 0.225 312 0 0.000 1.09805857230881334e-23 0.338 --- 303,237,63,0.210 298,296,0,0.000 20.211 60 chr12 123687402 123687402 G A exonic MPHOSPH9 nonsynonymous SNV MPHOSPH9:NM_022782:exon6:c.C1094T:p.P365L 0.21 0.975511 C 0.66 T 0.992 D 0.716625 N 0.0 N 2.36 130 22 0.145 144 0 0.000 2.4677276922866196e-07 0.409 --- 139,117,22,0.158 123,123,0,0.000 6.402 60 chr12 124343781 124343781 G A exonic DNAH10 nonsynonymous SNV DNAH10:NM_207437:exon37:c.G6361A:p.V2121I Score=417;Name=lod=66 ID=COSM239594,COSM239593;OCCURENCE=1(prostate) 0.02 168 36 0.176 169 0 0.000 1.43360635762025729e-10 0.417 --- 157,131,25,0.160 125,124,0,0.000 6.723 60 chr12 124399436 124399436 G A exonic DNAH10 nonsynonymous SNV DNAH10:NM_207437:exon61:c.G10258A:p.V3420I Score=606;Name=lod=386 0.000332 rs199619464 0.86 174 20 0.103 256 0 0.000 2.73846765228896235e-08 0.750 --- 165,143,21,0.128 191,191,0,0.000 7.362 5.873 chr12 124427892 124427892 A G splicing CCDC92 NM_025140:exon4:c.181+2T>C Score=547;Name=lod=223 157 33 0.174 177 0 0.000 9.09395255192632339e-11 0.606 --- 152,125,26,0.172 148,148,0,0.000 8.026 8.207 chr12 124829154 124829154 C T exonic NCOR2 nonsynonymous SNV NCOR2:NM_001077261:exon33:c.G4673A:p.R1558H,NCOR2:NM_001206654:exon33:c.G4673A:p.R1558H,NCOR2:NM_006312:exon34:c.G4703A:p.R1568H Score=409;Name=lod=61 0.01 0.996966 C 0.99 D 0.690587 NA 0.999999 D 0.592678 D 4.34 180 35 0.163 195 0 0.000 3.75804775140432719e-11 0.743 --- 183,153,30,0.164 167,167,0,0.000 8.965 4.678 chr12 125449043 125449043 G A exonic DHX37 nonsynonymous SNV DHX37:NM_032656:exon15:c.C1942T:p.R648C Score=374;Name=lod=44 0.0005 ID=COSM227592;OCCURENCE=1(skin) rs201143572 0 0.99922 C 1.0 D 0.998 D 0.999872 D 0.987524 D 3.52 201 47 0.190 261 0 0.000 1.78407792340124033e-16 0.468 --- 211,169,42,0.199 211,210,0,0.000 13.327 60 chr12 128899854 128899854 G A exonic TMEM132C synonymous SNV TMEM132C:NM_001136103:exon2:c.G663A:p.P221P 181 38 0.174 285 0 0.000 2.42447398636018996e-15 0.289 --- 200,163,37,0.185 244,243,0,0.000 13.650 9.256 chr12 129190139 129190139 G A exonic TMEM132C nonsynonymous SNV TMEM132C:NM_001136103:exon9:c.G2626A:p.G876R 0.01 253 46 0.154 285 0 0.000 7.38339864352413794e-15 0.478 --- 265,223,42,0.158 254,254,0,0.000 12.953 10.024 chr12 130184969 130184969 T C exonic TMEM132D synonymous SNV TMEM132D:NM_133448:exon2:c.A354G:p.G118G 0.003383 0.0027 rs147628512 193 47 0.196 247 0 0.000 2.8573994341009279e-16 0.532 --- 210,171,39,0.186 217,217,0,0.000 12.878 13.416 chr12 131593303 131593303 A G exonic GPR133 nonsynonymous SNV GPR133:NM_198827:exon18:c.A1922G:p.Y641C Score=543;Name=lod=215 0 0.862289 N 1.0 D 0.998 D 0.99999 D 0.821411 D 1.27 78 10 0.114 97 0 0.000 0.000446756163857843922 0.300 --- 72,63,9,0.125 77,77,0,0.000 2.962 9.722 chr12 132237820 132237820 G A exonic SFSWAP nonsynonymous SNV SFSWAP:NM_001261411:exon8:c.G1234A:p.A412T,SFSWAP:NM_004592:exon8:c.G1234A:p.A412T 0.13 0.999678 C 0.72 T 0.396953 NA 0.950316 N 0.00213 N 5.36 105 24 0.186 134 0 0.000 1.13188857082996621e-08 0.417 --- 111,90,21,0.189 123,123,0,0.000 7.278 14.273 chr12 132329708 132329708 G A exonic MMP17 synonymous SNV MMP17:NM_016155:exon7:c.G1014A:p.A338A 124 29 0.190 130 0 0.000 5.7205557094391244e-09 0.621 --- 140,113,27,0.193 116,116,0,0.000 7.565 60 chr12 132514292 132514292 C T exonic EP400 nonsynonymous SNV EP400:NM_015409:exon28:c.C5428T:p.R1810W Score=399;Name=lod=56 0.000077 rs149219622 0.25 0.790603 N 0.89 T 0.464323 NA 0.934935 N 0.004537 N 1.45 118 25 0.175 183 2 0.011 3.65743572170150268e-08 0.680 0.500 128,105,23,0.180 159,157,1,0.006 7.379 7.844 chr12 132539726 132539726 G A exonic EP400 synonymous SNV EP400:NM_015409:exon45:c.G7857A:p.A2619A 129 24 0.157 159 0 0.000 1.38087667252674097e-08 0.458 --- 125,107,18,0.144 129,129,0,0.000 5.833 9.885 chr12 132551399 132551399 G A exonic EP400 synonymous SNV EP400:NM_015409:exon49:c.G8634A:p.A2878A Score=483;Name=lod=122 ID=COSM1360191;OCCURENCE=1(large_intestine) 162 30 0.156 240 0 0.000 6.9748340125825549e-12 0.633 --- 153,128,25,0.163 185,185,0,0.000 9.112 9.586 chr12 133180857 133180857 C T exonic LRCOL1 nonsynonymous SNV LRCOL1:NM_001195520:exon5:c.G460A:p.A154T 0 263 63 0.193 303 0 0.000 6.38805785374044984e-20 0.540 --- 296,239,57,0.193 259,259,0,0.000 16.544 11.944 chr12 133214620 133214620 G A exonic POLE synonymous SNV POLE:NM_006231:exon41:c.C5658T:p.Y1886Y Score=516;Name=lod=167 0.000077 100 18 0.153 103 0 0.000 6.91718046152141879e-06 0.389 --- 95,80,15,0.158 87,87,0,0.000 4.391 9.322 chr12 133419625 133419625 G A exonic CHFR nonsynonymous SNV CHFR:NM_001161347:exon15:c.C1648T:p.R550C,CHFR:NM_001161344:exon17:c.C1924T:p.R642C,CHFR:NM_001161345:exon17:c.C1921T:p.R641C,CHFR:NM_001161346:exon17:c.C1888T:p.R630C,CHFR:NM_018223:exon17:c.C1801T:p.R601C Score=591;Name=lod=336 0 0.956552 C 1.0 D 0.783919 NA 1.0 D 0.999965 D 2.56 75 17 0.185 130 0 0.000 1.21633899076334857e-07 0.529 --- 74,60,14,0.189 97,97,0,0.000 5.425 9.7 chr12 133795902 133795902 G A exonic ANHX synonymous SNV ANHX:NM_001191054:exon8:c.C1020T:p.A340A 99 19 0.161 121 0 0.000 6.76354000693673101e-07 0.368 --- 92,78,14,0.152 96,96,0,0.000 4.582 5.061 chr13 20012252 20012252 C T exonic TPTE2 nonsynonymous SNV TPTE2:NM_001271850:exon1:c.G28A:p.E10K,TPTE2:NM_130785:exon12:c.G784A:p.E262K,TPTE2:NM_001141968:exon13:c.G682A:p.E228K,TPTE2:NM_199254:exon15:c.G1015A:p.E339K Score=0.962004;Name=chr21:10895796 0.000077 ID=COSM158634;OCCURENCE=2(haematopoietic_and_lymphoid_tissue),1(skin) 0.0082 rs140738972 0.2 0.984549 C 0.61 T 0.191 P 0.999682 D 0.332927 N 1.79 125 27 0.178 149 0 0.000 4.31536148300056566e-09 0.556 --- 115,95,20,0.174 119,119,0,0.000 6.569 60 chr13 21555687 21555687 C T exonic LATS2 synonymous SNV LATS2:NM_014572:exon6:c.G2583A:p.A861A 0.0082 97 26 0.211 155 0 0.000 1.20263162628722655e-10 0.538 --- 95,75,20,0.211 119,119,0,0.000 7.591 14.068 chr13 21562778 21562778 G T exonic LATS2 nonsynonymous SNV LATS2:NM_014572:exon4:c.C1141A:p.L381M 0.06 0.777172 N 0.79 T 0.013 B 0.989832 N 0.010835 N -4.05 159 19 0.107 191 0 0.000 5.71106838037295049e-07 0.526 --- 155,138,17,0.110 168,168,0,0.000 5.630 7.472 chr13 21619953 21619953 T C exonic LATS2 synonymous SNV LATS2:NM_014572:exon2:c.A213G:p.G71G Score=483;Name=lod=123 139 16 0.103 115 0 0.000 0.000114187735482055613 0.625 --- 131,117,14,0.107 93,93,0,0.000 3.335 9.899 chr13 23914571 23914571 C A exonic SACS nonsynonymous SNV SACS:NM_014363:exon10:c.G3444T:p.K1148N Score=401;Name=lod=57 0.04 0.764511 N 0.59 T 0.194 P 0.999999 D 0.281901 N 1.36 126 26 0.171 167 0 0.000 1.25532875569169167e-09 0.615 --- 135,110,25,0.185 138,138,0,0.000 8.183 11.0 chr13 24453442 24453442 A G exonic MIPEP synonymous SNV MIPEP:NM_005932:exon4:c.T504C:p.D168D 54 21 0.280 76 0 0.000 8.05594514575801101e-08 0.476 --- 57,43,14,0.246 59,59,0,0.000 4.721 9.168 chr13 26129142 26129142 A T exonic ATP8A2 nonsynonymous SNV ATP8A2:NM_016529:exon13:c.A1199T:p.Y400F Score=493;Name=lod=135 0 0.998721 C 1.0 D 0.73 P 1.0 D 0.992933 D 4.73 25 10 0.286 81 0 0.000 2.25050575257438634e-06 0.600 --- 30,22,8,0.267 60,60,0,0.000 4.122 9.307 chr13 26624930 26624930 C T exonic SHISA2 nonsynonymous SNV SHISA2:NM_001007538:exon1:c.G184A:p.D62N Score=714;Name=lod=1066 0 0.997406 C 0.98 D 0.96 D 1.0 D 0.944988 D 3.95 207 54 0.207 330 0 0.000 2.26359952317178518e-21 0.519 --- 232,185,46,0.199 276,276,0,0.000 16.878 8.351 chr13 26624985 26624985 G A exonic SHISA2 synonymous SNV SHISA2:NM_001007538:exon1:c.C129T:p.D43D Score=714;Name=lod=1066 200 55 0.216 318 0 0.000 1.23815317732476259e-21 0.400 --- 212,166,46,0.217 255,255,0,0.000 17.072 8.284 chr13 26789251 26789251 A G exonic RNF6 synonymous SNV RNF6:NM_005977:exon5:c.T768C:p.S256S,RNF6:NM_183043:exon5:c.T768C:p.S256S,RNF6:NM_183044:exon5:c.T768C:p.S256S Score=0.907361;Name=chr13:41193471 157 18 0.103 199 0 0.000 7.08716796713160367e-07 0.500 --- 157,141,15,0.096 167,166,0,0.000 4.879 7.63 chr13 27333366 27333366 G A exonic GPR12 nonsynonymous SNV GPR12:NM_005288:exon2:c.C599T:p.A200V Score=361;Name=lod=39 0.81 0.999492 C 0.0 T 0.0010 B 1.0 D 0.995525 D 5.01 118 34 0.224 180 0 0.000 3.07762090716419459e-13 0.412 --- 133,103,30,0.226 151,151,0,0.000 10.733 60 chr13 27643488 27643488 C T exonic USP12 nonsynonymous SNV USP12:NM_182488:exon9:c.G1045A:p.G349R Score=686;Name=lod=822 Score=0.953755;Name=chr5:170679889 0 0.998953 C 0.903785 NA 0.735388 NA 1.0 D 1.0 D 5.31 37 9 0.196 55 0 0.000 0.000527561143332404953 0.556 --- 41,34,7,0.171 46,45,1,0.022 1.623 4.804 chr13 30062055 30062055 A C exonic MTUS2 nonsynonymous SNV MTUS2:NM_015233:exon4:c.A355C:p.S119R,MTUS2:NM_001033602:exon9:c.A3448C:p.S1150R Score=399;Name=lod=56 0.02 0.997812 C 0.99 D 0.771437 NA 0.999965 D 0.947844 D 4.23 59 16 0.213 101 0 0.000 4.26178705307176334e-07 0.688 --- 63,52,11,0.175 76,76,0,0.000 4.006 12.553 chr13 31287940 31287940 C T exonic ALOX5AP synonymous SNV ALOX5AP:NM_001204406:exon1:c.C78T:p.G26G 157 24 0.133 192 0 0.000 1.25510549982095248e-08 0.667 --- 140,120,20,0.143 154,151,0,0.000 6.684 12.059 chr13 32653139 32653139 G A exonic FRY nonsynonymous SNV FRY:NM_023037:exon2:c.G239A:p.R80H Score=568;Name=lod=271 0 0.999679 C 0.99 D 0.994 D 1.0 D 0.788667 NA 5.37 64 18 0.220 71 0 0.000 5.29059214896114011e-06 0.500 --- 70,56,14,0.200 60,60,0,0.000 4.016 15.654 chr13 32691596 32691596 C A exonic FRY nonsynonymous SNV FRY:NM_023037:exon4:c.C450A:p.S150R Score=554;Name=lod=237 0.06 0.976881 C 0.94 T 0.0010 B 1.0 D 0.543596 NA 2.77 67 16 0.193 92 0 0.000 2.83499305758475666e-06 0.312 --- 70,55,15,0.214 75,75,0,0.000 5.120 7.185 chr13 37605975 37605975 A T exonic SUPT20H stopgain SUPT20H:NM_001014286:exon11:c.T765A:p.C255X,SUPT20H:NM_017569:exon11:c.T768A:p.C256X Score=573;Name=lod=284 0.923446 N 0.898189 NA 0.718206 NA 0.972969 N 1.0 A 1.86 96 13 0.119 131 0 0.000 2.31243796027414037e-05 0.538 --- 87,74,13,0.149 105,105,0,0.000 4.698 8.999 chr13 38171373 38171373 A C exonic POSTN nonsynonymous SNV POSTN:NM_001135934:exon2:c.T166G:p.Y56D,POSTN:NM_001135935:exon2:c.T166G:p.Y56D,POSTN:NM_001135936:exon2:c.T166G:p.Y56D,POSTN:NM_006475:exon2:c.T166G:p.Y56D Score=594;Name=lod=346 0 0.998981 C 1.0 D 0.999 D 1.0 D 0.978433 D 5.48 85 12 0.124 109 0 0.000 8.10474960004391766e-05 0.417 --- 73,65,8,0.110 80,80,0,0.000 2.663 6.232 chr13 38172766 38172766 C T exonic POSTN nonsynonymous SNV POSTN:NM_001135934:exon1:c.G98A:p.R33H,POSTN:NM_001135935:exon1:c.G98A:p.R33H,POSTN:NM_001135936:exon1:c.G98A:p.R33H,POSTN:NM_006475:exon1:c.G98A:p.R33H Score=546;Name=lod=221 0 0.998857 C 1.0 D 0.997 D 1.0 D 0.897543 D 5.24 67 11 0.141 85 0 0.000 0.000203137855101506555 0.636 --- 66,56,10,0.152 68,68,0,0.000 3.238 11.573 chr13 39261712 39261712 C T exonic FREM2 synonymous SNV FREM2:NM_207361:exon1:c.C231T:p.R77R Score=493;Name=lod=134 210 62 0.228 286 0 0.000 8.02205994290487019e-22 0.403 --- 245,196,49,0.200 255,255,0,0.000 16.362 60 chr13 39588018 39588018 G A exonic PROSER1 synonymous SNV PROSER1:NM_025138:exon11:c.C1371T:p.S457S 0.000077 rs145746710 154 40 0.206 231 0 0.000 2.09443546713471426e-15 0.575 --- 171,137,34,0.199 195,194,0,0.000 12.035 60 chr13 46288319 46288319 C T exonic SPERT nonsynonymous SNV SPERT:NM_152719:exon3:c.C1159T:p.R387W Score=565;Name=lod=263 0.01 0.917402 N 0.99 D 0.97 D 0.771361 N 0.694584 D 0.254 200 42 0.174 276 0 0.000 1.65355795995870467e-15 0.476 --- 204,171,33,0.162 244,244,0,0.000 11.939 15.654 chr13 47243226 47243226 G A exonic LRCH1 nonsynonymous SNV LRCH1:NM_001164211:exon3:c.G514A:p.A172T,LRCH1:NM_001164213:exon3:c.G514A:p.A172T,LRCH1:NM_015116:exon3:c.G514A:p.A172T Score=603;Name=lod=375 0.02 0.999772 C 0.92 T 0.14 B 1.0 D 0.98252 D 5.63 122 44 0.265 174 0 0.000 6.89089560337947592e-16 0.500 --- 136,104,30,0.224 135,135,0,0.000 9.876 60 chr13 51855300 51855300 A G exonic FAM124A nonsynonymous SNV FAM124A:NM_001242312:exon4:c.A1549G:p.T517A,FAM124A:NM_145019:exon5:c.A1657G:p.T553A 0.37 0.013739 N 1.0 D 0.0 B 0.079046 N 8.91E-4 N -4.29 161 22 0.120 222 0 0.000 1.2333660761921733e-08 0.455 --- 152,135,17,0.112 198,197,0,0.000 6.368 9.933 chr13 52602472 52602472 G A exonic ALG11 nonsynonymous SNV ALG11:NM_001004127:exon4:c.G1225A:p.A409T Score=509;Name=lod=156 0 0.999722 C 1.0 D 0.99 D 1.0 U 3.0E-6 N 5.47 120 19 0.137 150 0 0.000 4.60431259887977186e-07 0.737 --- 122,104,18,0.148 120,120,0,0.000 5.409 7.825 chr13 52952652 52952652 G A exonic THSD1 nonsynonymous SNV THSD1:NM_199263:exon4:c.C1294T:p.P432S,THSD1:NM_018676:exon5:c.C1453T:p.P485S Score=265;Name=lod=16 0.01 0.999694 C 0.98 D 0.928 D 0.99976 D 0.831842 D 3.9 186 41 0.181 233 0 0.000 3.55215668987492764e-14 0.610 --- 196,161,34,0.174 205,205,0,0.000 11.310 60 chr13 61987566 61987566 T C exonic PCDH20 synonymous SNV PCDH20:NM_022843:exon2:c.A666G:p.A222A Score=492;Name=lod=133 219 46 0.174 298 0 0.000 9.20765225047093196e-17 0.500 --- 225,187,38,0.169 248,248,0,0.000 13.038 60 chr13 66878873 66878873 G A exonic PCDH9 nonsynonymous SNV PCDH9:NM_020403:exon4:c.C3526T:p.H1176Y,PCDH9:NM_203487:exon5:c.C3628T:p.H1210Y Score=630;Name=lod=486 0.04 0.999768 C 0.85 T 0.452 P 0.998304 N 0.086335 N 5.29 102 21 0.171 105 0 0.000 1.80009256688869697e-06 0.429 --- 100,84,16,0.160 91,91,0,0.000 4.690 15.051 chr13 72134049 72134049 C T exonic DACH1 synonymous SNV DACH1:NM_080759:exon5:c.G1344A:p.L448L Score=564;Name=lod=262 154 19 0.110 218 0 0.000 1.04489109193815592e-07 0.421 --- 133,119,14,0.105 168,168,0,0.000 5.140 5.364 chr13 73350153 73350153 A G exonic DIS3 synonymous SNV DIS3:NM_001128226:exon5:c.T642C:p.G214G,DIS3:NM_014953:exon5:c.T732C:p.G244G 111 34 0.234 134 0 0.000 2.7493339737718495e-11 0.441 --- 113,87,26,0.230 106,106,0,0.000 8.095 11.819 chr13 77460115 77460115 C T exonic KCTD12 nonsynonymous SNV KCTD12:NM_138444:exon1:c.G169A:p.D57N Score=721;Name=lod=1138 0.39 0.997792 C 0.48 T 0.053 B 0.999947 D 0.819168 D 4.61 201 29 0.126 254 0 0.000 1.58802068714401132e-10 0.586 --- 203,177,26,0.128 223,222,0,0.000 8.731 15.654 chr13 77589716 77589716 C T splicing FBXL3 NM_012158:exon5:c.472-1G>A Score=617;Name=lod=430 88 17 0.162 128 0 0.000 6.03017299077443235e-07 0.353 --- 93,79,14,0.151 111,111,0,0.000 5.025 9.095 chr13 77862418 77862418 C T exonic MYCBP2 nonsynonymous SNV MYCBP2:NM_015057:exon3:c.G472A:p.V158I Score=531;Name=lod=191 0 0.986818 C 1.0 D 0.31 P 1.0 D 0.995414 D 4.76 118 25 0.175 163 0 0.000 1.6213331038614263e-09 0.400 --- 118,95,23,0.195 141,140,0,0.000 8.372 12.671 chr13 78318644 78318644 C G exonic SLAIN1 nonsynonymous SNV SLAIN1:NM_001242871:exon2:c.C51G:p.F17L 72 14 0.163 102 0 0.000 9.43046142751718674e-06 0.429 --- 70,60,10,0.143 83,83,0,0.000 3.558 6.604 chr13 78493579 78493579 T A exonic EDNRB nonsynonymous SNV EDNRB:NM_001201397:exon1:c.A172T:p.R58W 0 156 32 0.170 249 0 0.000 3.69067019812598218e-13 0.500 --- 173,140,30,0.176 218,216,0,0.000 11.364 14.492 chr13 80107551 80107551 C G exonic NDFIP2 nonsynonymous SNV NDFIP2:NM_001161407:exon3:c.C581G:p.A194G,NDFIP2:NM_019080:exon3:c.C581G:p.A194G Score=590;Name=lod=332 0.04 0.998911 C 0.85 T 0.985 D 1.0 D 0.997554 D 5.27 126 17 0.119 168 0 0.000 1.06474994431670543e-06 0.412 --- 119,105,14,0.118 131,131,0,0.000 4.698 10.016 chr13 84453828 84453828 G A exonic SLITRK1 synonymous SNV SLITRK1:NM_052910:exon1:c.C1815T:p.H605H Score=726;Name=lod=1195 236 33 0.123 278 0 0.000 2.32808991117489764e-11 0.394 --- 235,204,31,0.132 235,235,0,0.000 9.491 10.379 chr13 95861803 95861803 C T exonic ABCC4 nonsynonymous SNV ABCC4:NM_001105515:exon6:c.G670A:p.A224T,ABCC4:NM_005845:exon6:c.G670A:p.A224T ID=COSM273827,COSM273826;OCCURENCE=1(large_intestine) 0.08 0.85843 N 0.87 T 0.0 B 0.999953 D 0.999229 D 1.44 117 24 0.170 137 0 0.000 4.30148449631559894e-08 0.458 --- 110,89,21,0.191 104,103,0,0.000 6.385 8.856 chr13 100020159 100020159 A G exonic UBAC2 nonsynonymous SNV UBAC2:NM_177967:exon6:c.A821G:p.Q274R,UBAC2:NM_001144072:exon8:c.A926G:p.Q309R Score=423;Name=lod=70 0.01 0.998688 C 0.96 D 0.968 D 0.999981 D 0.0 N 5.24 98 25 0.203 156 0 0.000 2.82654939537962664e-10 0.320 --- 109,86,23,0.211 133,132,0,0.000 8.540 9.499 chr13 100635151 100635151 G A exonic ZIC2 nonsynonymous SNV ZIC2:NM_007129:exon1:c.G833A:p.S278N Score=789;Name=lod=2153 0.02 0.999582 C 0.97 D 0.042 B 1.0 D 0.980574 D 4.64 344 84 0.196 451 0 0.000 5.40866991032309572e-29 0.512 --- 391,313,77,0.197 402,402,0,0.000 25.526 60 chr13 101077904 101077904 G A exonic PCCA synonymous SNV PCCA:NM_001127692:exon19:c.G1686A:p.S562S,PCCA:NM_000282:exon20:c.G1764A:p.S588S,PCCA:NM_001178004:exon20:c.G1764A:p.S588S Score=747;Name=lod=1451 ID=COSM276616;OCCURENCE=1(large_intestine) 50 11 0.180 73 0 0.000 0.000101713628913190745 0.636 --- 52,44,8,0.154 56,56,0,0.000 2.670 8.909 chr13 103718243 103718243 G A exonic SLC10A2 synonymous SNV SLC10A2:NM_000452:exon1:c.C357T:p.V119V ID=COSM945213;OCCURENCE=1(large_intestine) rs201634783 102 23 0.184 121 0 0.000 8.30192635059717095e-08 0.696 --- 109,89,20,0.183 104,104,0,0.000 6.094 10.801 chr13 108882092 108882092 G A exonic ABHD13 nonsynonymous SNV ABHD13:NM_032859:exon2:c.G526A:p.V176M Score=403;Name=lod=58 0.03 0.999759 C 0.98 D 0.01 B 0.999998 D 0.99981 D 5.58 156 33 0.175 210 0 0.000 3.91404568023340082e-12 0.424 --- 163,133,30,0.184 181,181,0,0.000 10.402 60 chr13 109793145 109793145 G A exonic MYO16 nonsynonymous SNV MYO16:NM_001198950:exon32:c.G4585A:p.D1529N,MYO16:NM_015011:exon32:c.G4519A:p.D1507N Score=405;Name=lod=59 0 0.998941 C 1.0 D 0.899 D 0.989894 U 0.421973 N 4.45 142 26 0.155 179 0 0.000 2.18962291120145711e-09 0.192 --- 166,137,26,0.160 181,178,0,0.000 8.825 7.189 chr13 110434395 110434395 C T exonic IRS2 nonsynonymous SNV IRS2:NM_003749:exon1:c.G4006A:p.V1336M Score=395;Name=lod=54 0 0.997233 C 1.0 D 0.813 P 0.979948 U 2.73E-4 N 3.88 169 29 0.146 227 1 0.004 1.21371480574442179e-09 0.724 1.000 174,145,28,0.162 201,200,1,0.005 8.691 11.921 chr13 110818594 110818594 C T exonic COL4A1 nonsynonymous SNV COL4A1:NM_001845:exon45:c.G4006A:p.V1336I 0.000077 0.0005 ID=COSM266289,COSM266288;OCCURENCE=1(large_intestine),1(endometrium) rs202209298 0.5 0.00881 N 0.55 T 0.051 B 0.848632 N 4.0E-6 N -8.04 38 5 0.116 65 0 0.000 0.00863555320441231214 0.800 --- 36,30,6,0.167 51,51,0,0.000 2.414 5.766 chr13 111371644 111371644 C T exonic ING1 nonsynonymous SNV ING1:NM_001267728:exon2:c.C154T:p.R52W,ING1:NM_005537:exon2:c.C634T:p.R212W,ING1:NM_198217:exon2:c.C73T:p.R25W,ING1:NM_198219:exon2:c.C205T:p.R69W Score=361;Name=lod=39 0 0.146208 N 1.0 D 0.999 D 1.0 D 0.99959 D 0.103 156 29 0.157 233 0 0.000 1.44351685040665807e-11 0.759 --- 164,134,29,0.178 196,196,0,0.000 10.591 14.778 chr13 111767891 111767891 A C exonic ARHGEF7 nonsynonymous SNV ARHGEF7:NM_001113511:exon1:c.A18C:p.Q6H,ARHGEF7:NM_001113512:exon1:c.A18C:p.Q6H,ARHGEF7:NM_145735:exon1:c.A18C:p.Q6H Score=680;Name=lod=777 0 0.181121 N 0.99 D 0.999 D 0.999997 U 0.36258 N 1.14 43 6 0.122 77 0 0.000 0.00283926312173077983 1.000 --- 60,45,15,0.250 70,70,0,0.000 5.502 5.316 chr13 113893813 113893813 G A exonic CUL4A nonsynonymous SNV CUL4A:NM_001008895:exon10:c.G983A:p.R328Q,CUL4A:NM_003589:exon10:c.G683A:p.R228Q Score=522;Name=lod=176 0 0.998919 C 1.0 D 0.772 P 1.0 D 0.999758 D 4.45 85 18 0.175 111 0 0.000 8.27635995362309385e-07 0.500 --- 88,74,14,0.159 92,92,0,0.000 4.600 13.662 chr14 20215980 20215980 C T exonic OR4Q3 nonsynonymous SNV OR4Q3:NM_172194:exon1:c.C394T:p.R132C Score=564;Name=lod=262 Score=0.952317;Name=chr15:22292725 0.000154 0.02 0.99662 C 1.0 D 0.838 P 0.952862 U 0.01223 N 3.71 154 25 0.140 178 0 0.000 2.42247485145814673e-08 0.520 --- 153,130,23,0.150 149,149,0,0.000 6.994 15.0 chr14 20848416 20848416 G A exonic TEP1 nonsynonymous SNV TEP1:NM_007110:exon34:c.C4981T:p.R1661W Score=397;Name=lod=55 0.03 0.971294 C 0.99 D 0.0020 B 0.788714 N 4.0E-6 N 2.9 199 26 0.116 204 1 0.005 3.5960278017569659e-07 0.577 1.000 184,159,24,0.131 177,176,1,0.006 6.104 6.495 chr14 21558991 21558991 C T exonic ZNF219 nonsynonymous SNV ZNF219:NM_001101672:exon5:c.G1873A:p.E625K,ZNF219:NM_001102454:exon5:c.G1873A:p.E625K,ZNF219:NM_016423:exon5:c.G1873A:p.E625K Score=560;Name=lod=252 0 0.998258 C 1.0 D 0.903 D 0.999993 D 0.394917 N 4.84 284 68 0.193 367 0 0.000 2.08343134723279535e-23 0.574 --- 301,240,61,0.203 314,313,0,0.000 20.384 8.922 chr14 23355366 23355366 C T exonic REM2 nonsynonymous SNV REM2:NM_173527:exon4:c.C653T:p.P218L Score=514;Name=lod=163 0.08 113 15 0.117 110 0 0.000 6.631244762334091e-05 0.467 --- 106,95,11,0.104 86,86,0,0.000 2.908 11.432 chr14 23512119 23512119 C T exonic PSMB11 nonsynonymous SNV PSMB11:NM_001099780:exon1:c.C685T:p.R229W Score=443;Name=lod=84 0 0.965883 C 0.99 D 0.996 D 0.997527 N 0.004682 N 2.56 178 49 0.216 226 0 0.000 1.94104069627136408e-16 0.490 --- 190,151,39,0.205 194,192,0,0.000 12.778 60 chr14 23523354 23523354 C T exonic CDH24 nonsynonymous SNV CDH24:NM_022478:exon6:c.G968A:p.R323H,CDH24:NM_144985:exon6:c.G968A:p.R323H Score=446;Name=lod=87 0.0005 rs199792016 0.01 0.969312 C 0.99 D 0.951 D 0.998203 N 0.282895 N 3.04 154 26 0.144 176 0 0.000 1.16710710984770208e-08 0.808 --- 161,137,24,0.149 157,157,0,0.000 7.309 7.19 chr14 23533663 23533663 G A exonic ACIN1 synonymous SNV ACIN1:NM_001164816:exon4:c.C336T:p.D112D,ACIN1:NM_001164817:exon5:c.C243T:p.D81D,ACIN1:NM_001164815:exon10:c.C2397T:p.D799D,ACIN1:NM_001164814:exon11:c.C2514T:p.D838D,ACIN1:NM_014977:exon11:c.C2517T:p.D839D Score=651;Name=lod=588 185 41 0.181 238 0 0.000 2.0078050112846129e-14 0.341 --- 192,156,36,0.188 199,199,0,0.000 11.920 6.45 chr14 23564466 23564466 G A exonic ACIN1 synonymous SNV ACIN1:NM_001164814:exon1:c.C30T:p.S10S,ACIN1:NM_001164815:exon1:c.C30T:p.S10S,ACIN1:NM_014977:exon1:c.C30T:p.S10S Score=265;Name=lod=16 188 21 0.100 211 0 0.000 2.53642929862694666e-07 0.381 --- 182,164,16,0.089 174,174,0,0.000 4.653 11.197 chr14 23853791 23853791 C A exonic MYH6 stopgain MYH6:NM_002471:exon36:c.G5425T:p.G1809X Score=505;Name=lod=151 0 0.997963 C 0.903475 NA 0.737748 NA 1.0 NA 1.0 A 4.69 390 83 0.175 554 0 0.000 1.61594184968644329e-30 0.578 --- 400,328,72,0.180 469,468,0,0.000 25.867 7.771 chr14 24642552 24642552 G A exonic REC8 nonsynonymous SNV REC8:NM_001048205:exon5:c.G394A:p.A132T,REC8:NM_005132:exon6:c.G394A:p.A132T Score=512;Name=lod=161 0.01 0.999539 C 0.97 D 0.891 D 1.0 D 0.8455 D 5.09 124 27 0.179 161 0 0.000 8.29589822959261018e-10 0.444 --- 132,109,23,0.174 138,138,0,0.000 7.614 12.661 chr14 24682704 24682704 C A exonic CHMP4A nonsynonymous SNV CHMP4A:NM_014169:exon1:c.G71T:p.R24M 0.03 0.052356 N 0.72298 NA 0.27 P 0.594894 NA 4.98E-4 N -5.0 147 32 0.179 142 0 0.000 2.66639614072513307e-09 0.312 --- 145,117,27,0.188 116,116,0,0.000 7.424 11.612 chr14 24769747 24769747 T C exonic NOP9 synonymous SNV NOP9:NM_174913:exon2:c.T381C:p.A127A Score=295;Name=lod=21 171 39 0.186 204 0 0.000 6.02392064610565792e-13 0.769 --- 173,138,34,0.198 170,170,0,0.000 10.715 15.955 chr14 24842998 24842998 G A exonic NFATC4 nonsynonymous SNV NFATC4:NM_001198965:exon5:c.G1657A:p.V553M,NFATC4:NM_001198966:exon5:c.G1447A:p.V483M,NFATC4:NM_004554:exon5:c.G1657A:p.V553M,NFATC4:NM_001136022:exon6:c.G1846A:p.V616M,NFATC4:NM_001198967:exon6:c.G1846A:p.V616M Score=575;Name=lod=290 0 0.999509 C 1.0 D 0.11 B 1.0 D 0.982834 D 4.52 227 39 0.147 244 0 0.000 2.29625645818457677e-12 0.487 --- 216,186,30,0.139 193,193,0,0.000 8.751 60 chr14 24845718 24845718 A C exonic NFATC4 synonymous SNV NFATC4:NM_001198965:exon9:c.A2275C:p.R759R,NFATC4:NM_001198966:exon9:c.A2065C:p.R689R,NFATC4:NM_004554:exon9:c.A2275C:p.R759R,NFATC4:NM_001136022:exon10:c.A2464C:p.R822R,NFATC4:NM_001198967:exon10:c.A2464C:p.R822R Score=624;Name=lod=458 147 19 0.114 203 0 0.000 1.40693546564980867e-07 1.000 --- 188,156,32,0.170 179,178,1,0.006 8.575 10.055 chr14 30108077 30108077 C T exonic PRKD1 nonsynonymous SNV PRKD1:NM_002742:exon5:c.G730A:p.E244K Score=461;Name=lod=100 0.22 0.998914 C 0.51 T 0.024 B 0.999974 D 0.797407 D 5.29 48 8 0.143 80 0 0.000 0.000603604604910454782 0.625 --- 56,47,7,0.130 80,78,0,0.000 2.823 6.982 chr14 31562151 31562151 T C exonic AP4S1 synonymous SNV AP4S1:NM_001128126:exon6:c.T345C:p.D115D,AP4S1:NM_001254728:exon6:c.T345C:p.D115D,AP4S1:NM_001254729:exon6:c.T345C:p.D115D Score=675;Name=lod=737 Score=0.920747;Name=chr6:89769654 60 12 0.167 135 0 0.000 1.64545273739451586e-06 0.583 --- 59,49,10,0.169 103,103,0,0.000 4.614 4.12 chr14 34270056 34270056 C T exonic NPAS3 nonsynonymous SNV NPAS3:NM_001165893:exon11:c.C2453T:p.A818V,NPAS3:NM_022123:exon11:c.C2447T:p.A816V,NPAS3:NM_001164749:exon12:c.C2543T:p.A848V,NPAS3:NM_173159:exon12:c.C2504T:p.A835V Score=748;Name=lod=1465 0 0.997911 C 1.0 D 0.01 B 0.999941 D 0.76808 D 4.67 205 49 0.193 305 0 0.000 1.00554840485140276e-18 0.571 --- 212,172,39,0.185 252,252,0,0.000 14.223 60 chr14 35234228 35234228 T G exonic BAZ1A nonsynonymous SNV BAZ1A:NM_182648:exon21:c.A3452C:p.K1151T,BAZ1A:NM_013448:exon22:c.A3548C:p.K1183T Score=709;Name=lod=1016 0 0.998041 C 0.95 T 0.98 D 1.0 D 0.998807 D 5.32 141 18 0.113 141 0 0.000 7.42004739872464306e-06 0.611 --- 139,123,16,0.115 122,122,0,0.000 4.519 15.477 chr14 45373728 45373728 C G exonic C14orf28 nonsynonymous SNV C14orf28:NM_001017923:exon4:c.C745G:p.H249D Score=679;Name=lod=769 0.03 0.99924 C 0.97 D 0.637 P 1.0 D 0.980877 D 5.62 133 16 0.107 181 0 0.000 1.87346945180895237e-06 0.125 --- 137,120,17,0.124 154,154,0,0.000 5.805 8.35 chr14 45599103 45599103 C T exonic FKBP3 nonsynonymous SNV FKBP3:NM_002013:exon3:c.G212A:p.R71H Score=459;Name=lod=98 0.03 0.99897 C 0.92 T 0.029 B 0.047672 N 0.999868 D 5.33 38 11 0.224 60 0 0.000 7.59325349551991823e-05 0.273 --- 42,32,10,0.238 48,47,0,0.000 3.539 6.812 chr14 50100401 50100401 A G exonic DNAAF2 synonymous SNV DNAAF2:NM_001083908:exon1:c.T1467C:p.D489D,DNAAF2:NM_018139:exon1:c.T1467C:p.D489D 0 rs201056459 249 65 0.207 245 0 0.000 2.14297884149138223e-18 0.569 --- 280,227,52,0.186 234,229,1,0.004 13.050 60 chr14 51107566 51107566 C T exonic SAV1 synonymous SNV SAV1:NM_021818:exon4:c.G852A:p.Q284Q Score=697;Name=lod=909 108 23 0.176 125 1 0.008 1.22203755753503367e-06 0.217 1.000 107,88,19,0.178 103,102,1,0.010 4.720 13.894 chr14 51446129 51446129 C T exonic TRIM9 synonymous SNV TRIM9:NM_015163:exon9:c.G2046A:p.A682A 154 38 0.198 220 0 0.000 2.87614634375216352e-14 0.342 --- 167,136,31,0.186 185,185,0,0.000 10.738 13.424 chr14 55226904 55226904 G A exonic SAMD4A nonsynonymous SNV SAMD4A:NM_001161576:exon5:c.G938A:p.R313H,SAMD4A:NM_015589:exon6:c.G1202A:p.R401H Score=525;Name=lod=182 0 0.999559 C 1.0 D 0.999 D 1.0 D 0.999506 D 4.6 128 15 0.105 126 0 0.000 6.03963578735749905e-05 0.600 --- 121,107,14,0.116 108,108,0,0.000 3.969 5.135 chr14 58814553 58814553 A G exonic ARID4A nonsynonymous SNV ARID4A:NM_002892:exon15:c.A1361G:p.N454S,ARID4A:NM_023000:exon15:c.A1361G:p.N454S,ARID4A:NM_023001:exon15:c.A1361G:p.N454S Score=502;Name=lod=146 0.45 0.998623 C 0.11 T 0.0 B 0.999553 D 0.1881 N 5.19 94 12 0.113 98 0 0.000 0.000386379955271334815 0.333 --- 93,83,10,0.108 84,84,0,0.000 2.772 5.78 chr14 60581520 60581520 C T exonic PCNXL4 synonymous SNV PCNXL4:NM_022495:exon2:c.C90T:p.P30P Score=668;Name=lod=693 147 26 0.150 187 0 0.000 1.85269728168838968e-09 0.577 --- 136,117,18,0.133 147,147,0,0.000 6.033 14.593 chr14 61113135 61113135 C T exonic SIX1 nonsynonymous SNV SIX1:NM_005982:exon2:c.G721A:p.A241T Score=721;Name=lod=1135 0.48 0.068702 N 0.41 T 0.0040 B 0.985905 N 0.00181 N -2.31 143 19 0.117 177 0 0.000 4.5000325441438045e-07 0.526 --- 145,127,18,0.124 151,150,0,0.000 5.800 7.955 chr14 62567318 62567318 G T exonic SYT16 nonsynonymous SNV SYT16:NM_031914:exon6:c.G1831T:p.A611S Score=598;Name=lod=358 1 207 31 0.130 218 0 0.000 6.83337017960899196e-10 0.419 --- 194,168,26,0.134 187,186,1,0.005 6.700 13.977 chr14 63779661 63779661 G A exonic GPHB5 unknown UNKNOWN Score=358;Name=lod=38 0 118 19 0.139 190 0 0.000 3.05162703908312257e-08 0.526 --- 119,101,18,0.151 166,166,0,0.000 7.177 6.517 chr14 64447842 64447842 G A exonic SYNE2 nonsynonymous SNV SYNE2:NM_015180:exon16:c.G1787A:p.R596H,SYNE2:NM_182914:exon16:c.G1787A:p.R596H 0.04 0.120773 N 0.87 T 0.135 B 0.560564 N 2.81E-4 N -2.42 77 32 0.294 95 0 0.000 2.06633806807110094e-10 0.469 --- 86,62,24,0.279 79,79,0,0.000 7.532 60 chr14 64589119 64589119 C A exonic SYNE2 nonsynonymous SNV SYNE2:NM_015180:exon70:c.C13396A:p.P4466T,SYNE2:NM_182914:exon70:c.C13396A:p.P4466T 0.15 0.809467 N 0.56 T 0.662 P 0.997569 N 0.013274 N 1.47 107 32 0.230 129 0 0.000 1.14548023639814648e-10 0.438 --- 116,91,25,0.216 110,110,0,0.000 7.767 9.384 chr14 64600842 64600842 T C exonic SYNE2 nonsynonymous SNV SYNE2:NM_015180:exon78:c.T14570C:p.L4857P,SYNE2:NM_182914:exon78:c.T14570C:p.L4857P Score=433;Name=lod=77 0 0.998469 C 0.99 D 0.986 D 0.999886 D 0.999982 D 5.6 82 18 0.180 86 0 0.000 6.78950033581699453e-06 0.444 --- 79,66,13,0.165 67,67,0,0.000 3.642 9.203 chr14 65008301 65008301 C T exonic HSPA2 nonsynonymous SNV HSPA2:NM_021979:exon1:c.C734T:p.A245V Score=765;Name=lod=1711 1 0.967494 C 0.0 T 0.0 B 0.996356 U 0.251932 N 3.38 230 60 0.207 276 0 0.000 1.39742226012115777e-19 0.450 --- 246,195,51,0.207 245,245,0,0.000 16.308 60 chr14 65199599 65199599 G A exonic PLEKHG3 nonsynonymous SNV PLEKHG3:NM_015549:exon10:c.G1157A:p.R386H 0.000077 0.44 0.901152 N 0.96 D 0.0010 B 0.885278 N 0.305222 N 1.2 51 13 0.203 89 0 0.000 5.48878804612631172e-06 0.462 --- 50,40,10,0.200 63,63,0,0.000 3.781 10.835 chr14 65234055 65234055 G A exonic SPTB nonsynonymous SNV SPTB:NM_000347:exon30:c.C6235T:p.R2079C,SPTB:NM_001024858:exon30:c.C6235T:p.R2079C Score=403;Name=lod=58 0.000077 0.0005 rs192618182 0.04 0.99238 C 0.99 D 0.759 P 0.902288 N 0.725533 D 3.42 115 24 0.173 152 0 0.000 6.41028062214590513e-09 0.292 --- 112,91,21,0.188 120,120,0,0.000 7.106 14.256 chr14 65482436 65482436 T C splicing CHURC1-FNTB,FNTB NM_001202558:exon5:c.236+2T>C,NM_001202559:exon6:c.557+2T>C;NM_002028:exon4:c.374+2T>C Score=422;Name=lod=69 112 18 0.138 121 0 0.000 4.8862029739035404e-06 0.333 --- 97,83,13,0.135 92,92,0,0.000 3.788 10.444 chr14 71267751 71267751 G A exonic MAP3K9 synonymous SNV MAP3K9:NM_033141:exon2:c.C453T:p.G151G Score=633;Name=lod=498 97 33 0.254 141 0 0.000 2.64076026776955171e-12 0.455 --- 114,85,28,0.248 121,121,0,0.000 9.709 60 chr14 71524390 71524390 G T exonic PCNX stopgain PCNX:NM_014982:exon26:c.G4801T:p.E1601X Score=595;Name=lod=350 0 0.999615 C 0.903837 NA 0.735497 NA 1.0 D 1.0 A 5.23 65 16 0.198 108 0 0.000 5.09446883323639026e-07 0.375 --- 67,54,13,0.194 93,93,0,0.000 5.237 7.605 chr14 73572975 73572975 A C exonic RBM25 nonsynonymous SNV RBM25:NM_021239:exon12:c.A1449C:p.E483D Score=584;Name=lod=315 0.38 0.927227 N 0.49 T 0.486994 NA 1.0 D 0.959667 D 2.79 90 13 0.126 104 0 0.000 7.6428688042912366e-05 0.462 --- 94,79,15,0.160 82,82,0,0.000 4.287 4.74 chr14 73959369 73959369 A G exonic C14orf169 unknown UNKNOWN Score=460;Name=lod=99 182 33 0.153 202 0 0.000 9.77547653361924843e-11 0.485 --- 179,154,24,0.135 178,177,0,0.000 7.284 12.315 chr14 74206421 74206421 C T exonic ELMSAN1 stopgain ELMSAN1:NM_001043318:exon2:c.G291A:p.W97X,ELMSAN1:NM_194278:exon2:c.G291A:p.W97X Score=487;Name=lod=127 0 0.998329 C 0.903735 NA 0.735284 NA 0.999996 D 1.0 A 4.35 195 75 0.278 291 0 0.000 3.07601525979947313e-27 0.427 --- 241,176,65,0.270 252,252,0,0.000 22.422 60 chr14 74364906 74364906 A T exonic ZNF410 nonsynonymous SNV ZNF410:NM_001242927:exon4:c.A302T:p.D101V,ZNF410:NM_001242926:exon5:c.A521T:p.D174V,ZNF410:NM_021188:exon5:c.A521T:p.D174V,ZNF410:NM_001242924:exon6:c.A572T:p.D191V Score=676;Name=lod=747 0 0.998958 C 1.0 D 0.995 D 0.999636 D 0.999886 D 4.94 120 30 0.200 158 0 0.000 8.10823493571996641e-11 0.567 --- 123,100,23,0.187 132,131,1,0.008 6.564 9.388 chr14 74969411 74969411 A G exonic LTBP2 synonymous SNV LTBP2:NM_000428:exon34:c.T5115C:p.L1705L 161 25 0.134 209 0 0.000 2.66899979968106396e-09 0.720 --- 161,140,20,0.125 177,177,0,0.000 6.759 11.283 chr14 75277104 75277104 C T exonic YLPM1 nonsynonymous SNV YLPM1:NM_019589:exon9:c.C5209T:p.R1737C Score=561;Name=lod=255 0 115 23 0.167 160 0 0.000 7.0018521476610446e-09 0.391 --- 115,99,16,0.139 131,131,0,0.000 5.542 14.02 chr14 75574044 75574044 A G splicing NEK9 NM_033116:exon12:c.1327+2T>C Score=516;Name=lod=167 78 16 0.170 117 0 0.000 1.11459778988612095e-06 0.562 --- 82,69,13,0.159 93,93,0,0.000 4.517 13.724 chr14 75643153 75643153 G T exonic TMED10 nonsynonymous SNV TMED10:NM_006827:exon1:c.C130A:p.L44I Score=644;Name=lod=553 0.05 0.999622 C 0.93 T 0.922 D 1.0 D 0.999997 D 4.72 207 44 0.175 243 0 0.000 1.82266044339497342e-14 0.432 --- 205,173,32,0.156 192,192,0,0.000 9.694 60 chr14 76349199 76349199 A G exonic TTLL5 nonsynonymous SNV TTLL5:NM_015072:exon30:c.A3694G:p.N1232D Score=410;Name=lod=62 0.02 0.999054 C 1.0 D 0.116 B 0.936131 N 0.410533 N 5.55 159 30 0.159 195 0 0.000 1.63283777103722891e-10 0.400 --- 145,121,24,0.166 160,160,0,0.000 8.222 14.593 chr14 76542976 76542976 C T exonic IFT43 synonymous SNV IFT43:NM_052873:exon4:c.C252T:p.N84N ID=COSM266113;OCCURENCE=1(large_intestine) 90 25 0.217 113 0 0.000 1.39961305704184429e-08 0.560 --- 96,74,22,0.229 94,93,0,0.000 6.891 60 chr14 77685240 77685240 C T exonic TMEM63C synonymous SNV TMEM63C:NM_020431:exon3:c.C84T:p.T28T Score=455;Name=lod=94 0.000079 122 31 0.203 160 0 0.000 4.1042259116100999e-11 0.613 --- 128,103,25,0.195 125,125,0,0.000 7.774 11.845 chr14 77715795 77715795 C T exonic TMEM63C nonsynonymous SNV TMEM63C:NM_020431:exon21:c.C2032T:p.R678W Score=544;Name=lod=217 0 131 35 0.211 153 0 0.000 1.78599108122013374e-11 0.514 --- 131,104,27,0.206 124,123,0,0.000 8.333 13.933 chr14 77948977 77948977 C T exonic ISM2 nonsynonymous SNV ISM2:NM_199296:exon4:c.G661A:p.E221K Score=554;Name=lod=239 0.03 0.146882 N 1.0 D 0.024 B 0.999614 N 0.638943 D -1.69 71 17 0.193 87 0 0.000 6.49461667386685526e-06 0.235 --- 75,61,14,0.187 72,72,0,0.000 4.190 8.603 chr14 78043164 78043164 C T exonic SPTLC2 nonsynonymous SNV SPTLC2:NM_004863:exon4:c.G577A:p.A193T Score=387;Name=lod=50 0.43 0.998817 C 0.64 T 0.0040 B 0.999984 D 0.870838 D 5.2 120 24 0.167 160 2 0.012 5.47007928110536228e-07 0.417 0.500 117,98,19,0.162 128,127,1,0.008 5.288 12.885 chr14 78045371 78045371 G A exonic SPTLC2 nonsynonymous SNV SPTLC2:NM_004863:exon3:c.C409T:p.P137S Score=309;Name=lod=24 0.01 0.999652 C 1.0 D 0.988 D 1.0 D 0.995004 D 5.3 111 33 0.229 131 0 0.000 7.60507211729362556e-11 0.545 --- 110,87,23,0.209 100,100,0,0.000 6.955 15.654 chr14 78397873 78397873 C T exonic ADCK1 nonsynonymous SNV ADCK1:NM_001142545:exon9:c.C1015T:p.R339C,ADCK1:NM_020421:exon10:c.C1219T:p.R407C Score=401;Name=lod=57 0 0.998205 C 1.0 D 0.992 D 0.999996 D 0.789654 NA 4.81 134 37 0.216 180 0 0.000 2.96561072988271632e-13 0.622 --- 152,123,29,0.191 152,152,0,0.000 9.070 60 chr14 79181407 79181407 G A exonic NRXN3 nonsynonymous SNV NRXN3:NM_004796:exon5:c.G850A:p.V284M Score=563;Name=lod=259 0.23 0.995103 C 0.71 T 0.0050 B 0.99973 D 0.882578 D 4.58 163 51 0.238 249 0 0.000 2.13476513937216448e-19 0.392 --- 189,142,46,0.245 201,201,0,0.000 15.934 60 chr14 81969093 81969093 G A exonic SEL1L nonsynonymous SNV SEL1L:NM_001244984:exon6:c.C749T:p.T250I,SEL1L:NM_005065:exon6:c.C749T:p.T250I Score=566;Name=lod=266 0.05 0.999658 C 0.99 D 0.0060 B 1.0 D 0.685554 D 5.32 119 14 0.105 168 0 0.000 7.23690587500418576e-06 0.714 --- 111,97,14,0.126 136,136,0,0.000 5.072 5.092 chr14 86088671 86088671 C A exonic FLRT2 synonymous SNV FLRT2:NM_013231:exon2:c.C813A:p.A271A Score=441;Name=lod=83 143 39 0.214 178 0 0.000 4.03387089342854656e-13 0.718 --- 158,123,35,0.222 159,159,0,0.000 11.507 60 chr14 89338777 89338777 G A exonic TTC8 nonsynonymous SNV TTC8:NM_198310:exon11:c.G1208A:p.R403Q,TTC8:NM_198309:exon12:c.G1298A:p.R433Q,TTC8:NM_144596:exon13:c.G1328A:p.R443Q Score=507;Name=lod=153 0.02 0.993891 C 0.98 D 0.202 P 0.999995 D 0.997016 D 4.41 149 18 0.108 167 0 0.000 4.70370717867598622e-06 0.444 --- 134,116,17,0.128 135,134,0,0.000 5.383 3.664 chr14 91211165 91211165 C T exonic TTC7B nonsynonymous SNV TTC7B:NM_001010854:exon4:c.G547A:p.A183T Score=410;Name=lod=62 0.03 0.999129 C 0.91 T 0.0040 B 1.0 D 0.978849 D 5.48 82 19 0.188 126 0 0.000 7.39998744207317432e-08 0.474 --- 80,65,15,0.188 95,95,0,0.000 5.439 11.231 chr14 91739106 91739106 G A exonic CCDC88C nonsynonymous SNV CCDC88C:NM_001080414:exon30:c.C5950T:p.R1984W 0 158 47 0.229 210 0 0.000 1.96863763918165747e-16 0.660 --- 181,142,39,0.215 176,176,0,0.000 12.377 8.563 chr14 92264129 92264129 G A exonic TC2N synonymous SNV TC2N:NM_001128595:exon8:c.C855T:p.N285N,TC2N:NM_001128596:exon8:c.C855T:p.N285N,TC2N:NM_152332:exon8:c.C855T:p.N285N Score=358;Name=lod=38 49 14 0.222 67 0 0.000 1.71015970688593856e-05 0.571 --- 52,40,12,0.231 56,56,0,0.000 4.131 11.686 chr14 92361342 92361342 T C exonic FBLN5 nonsynonymous SNV FBLN5:NM_006329:exon5:c.A454G:p.T152A Score=472;Name=lod=111 0.5 0.997406 C 0.12 T 0.272 P 1.0 D 0.997283 D 5.01 114 32 0.219 141 0 0.000 7.95732622980843103e-11 0.500 --- 116,90,25,0.217 113,112,0,0.000 7.842 60 chr14 92413570 92413570 G T exonic FBLN5 nonsynonymous SNV FBLN5:NM_006329:exon1:c.C4A:p.P2T Score=401;Name=lod=57 0.06 0.914499 N 1.0 D 0.011 B 0.864853 N 0.056958 N 1.65 65 20 0.235 97 0 0.000 6.34670609780423582e-08 0.400 --- 75,57,18,0.240 79,79,0,0.000 6.140 11.317 chr14 92562459 92562459 T C exonic ATXN3 nonsynonymous SNV ATXN3:NM_001164777:exon2:c.A47G:p.D16G,ATXN3:NM_030660:exon2:c.A47G:p.D16G,ATXN3:NM_001127697:exon3:c.A212G:p.D71G,ATXN3:NM_001164776:exon3:c.A212G:p.D71G,ATXN3:NM_001164778:exon3:c.A212G:p.D71G,ATXN3:NM_004993:exon3:c.A212G:p.D71G Score=541;Name=lod=211 0 0.998193 C 1.0 D 0.964 D 1.0 D 0.992835 D 5.42 72 11 0.133 73 0 0.000 0.000847092828371616624 1.000 --- 83,71,11,0.134 74,74,0,0.000 3.107 3.014 chr14 93418298 93418298 A T exonic ITPK1 nonsynonymous SNV ITPK1:NM_001142593:exon9:c.T731A:p.L244Q,ITPK1:NM_001142594:exon9:c.T731A:p.L244Q,ITPK1:NM_014216:exon9:c.T731A:p.L244Q Score=336;Name=lod=31 0 0.997246 C 1.0 D 0.999 D 1.0 D 0.99999 D 4.53 78 11 0.124 71 0 0.000 0.00126025569605822921 0.364 --- 76,65,10,0.133 68,66,2,0.029 1.476 7.235 chr14 94545828 94545828 C A exonic DDX24 nonsynonymous SNV DDX24:NM_020414:exon2:c.G261T:p.E87D 0.2 0.084522 N 0.63 T 0.063 B 0.999689 N 0.295778 N -4.64 215 30 0.122 245 0 0.000 7.2377576277323436e-10 0.333 --- 216,184,29,0.136 214,209,0,0.000 8.859 60 chr14 95916425 95916425 G A exonic SYNE3 nonsynonymous SNV SYNE3:NM_152592:exon7:c.C1292T:p.A431V 0.0005 rs201173477 0.16 0.941525 N 0.61 T 0.0040 B 0.020257 N 0.017388 N 1.68 150 61 0.289 229 0 0.000 1.72434628091400873e-22 0.295 --- 183,131,52,0.284 187,185,0,0.000 17.625 13.834 chr14 96552940 96552940 G A exonic C14orf132 synonymous SNV C14orf132:NM_001252507:exon2:c.G120A:p.A40A Score=540;Name=lod=208 180 38 0.174 251 0 0.000 3.44604430828090915e-14 0.632 --- 170,140,30,0.176 187,187,0,0.000 10.304 15.955 chr14 96953241 96953241 C T exonic AK7 stopgain AK7:NM_152327:exon17:c.C1981T:p.R661X 1 0.923446 N 0.898056 NA 0.719658 NA 0.981207 N 1.0 A 3.6 70 18 0.205 87 0 0.000 2.90011184807891022e-06 0.556 --- 74,61,13,0.176 74,74,0,0.000 3.863 6.578 chr14 99871600 99871600 T C exonic SETD3 nonsynonymous SNV SETD3:NM_032233:exon10:c.A1033G:p.K345E Score=701;Name=lod=943 0.01 0.998465 C 0.82 T 0.982 D 1.0 D 0.996602 D 5.58 127 33 0.206 226 0 0.000 2.80929847613808552e-14 0.485 --- 144,112,29,0.206 194,190,0,0.000 11.543 12.432 chr14 101005083 101005083 G A exonic BEGAIN synonymous SNV BEGAIN:NM_001159531:exon6:c.C1005T:p.D335D,BEGAIN:NM_020836:exon7:c.C1005T:p.D335D Score=643;Name=lod=545 211 63 0.230 293 0 0.000 1.97050914571295793e-22 0.556 --- 236,181,55,0.233 239,239,0,0.000 18.266 14.015 chr14 102452846 102452846 C T exonic DYNC1H1 synonymous SNV DYNC1H1:NM_001376:exon8:c.C2284T:p.L762L Score=559;Name=lod=250 239 45 0.158 249 0 0.000 9.27847687287174725e-14 0.533 --- 229,190,39,0.170 220,220,0,0.000 12.085 60 chr14 102510351 102510351 C T exonic DYNC1H1 nonsynonymous SNV DYNC1H1:NM_001376:exon70:c.C12653T:p.T4218M Score=495;Name=lod=137 0.05 0.982743 C 0.97 D 0.526 P 1.0 D 0.999999 D 4.24 188 65 0.257 222 0 0.000 2.48506282807301735e-20 0.400 --- 209,157,52,0.249 186,186,0,0.000 15.834 13.204 chr14 102514971 102514971 A G exonic DYNC1H1 nonsynonymous SNV DYNC1H1:NM_001376:exon74:c.A13337G:p.N4446S Score=574;Name=lod=288 0 0.998254 C 1.0 D 0.999 D 1.0 D 0.999922 D 4.97 169 20 0.106 181 0 0.000 1.22002198360899649e-06 0.600 --- 160,143,16,0.101 152,151,0,0.000 4.655 5.134 chr14 103406413 103406413 G A exonic CDC42BPB nonsynonymous SNV CDC42BPB:NM_006035:exon32:c.C4561T:p.R1521C Score=497;Name=lod=139 ID=COSM1188912;OCCURENCE=1(lung) 0.02 0.999145 C 0.92 T 0.982 D 0.999999 D 0.997611 D 4.62 177 46 0.206 182 0 0.000 1.24147270769740344e-13 0.413 --- 187,146,41,0.219 164,164,0,0.000 12.158 60 chr14 103568654 103568654 C T exonic EXOC3L4 synonymous SNV EXOC3L4:NM_001077594:exon2:c.C594T:p.R198R Score=374;Name=lod=44 0.000080 242 27 0.100 245 0 0.000 1.41968346584046879e-08 0.407 --- 238,207,30,0.127 208,208,0,0.000 8.399 10.786 chr14 104204180 104204180 G A exonic PPP1R13B nonsynonymous SNV PPP1R13B:NM_015316:exon15:c.C2882T:p.A961V Score=426;Name=lod=72 0 0.999656 C 0.956513 NA 0.996 D 1.0 D 0.971857 D 4.79 193 26 0.119 189 0 0.000 7.2543363736944021e-08 0.269 --- 185,163,22,0.119 153,153,0,0.000 5.884 8.754 chr14 105169539 105169539 C T exonic INF2 synonymous SNV INF2:NM_001031714:exon3:c.C489T:p.D163D,INF2:NM_022489:exon3:c.C489T:p.D163D,INF2:NM_032714:exon3:c.C489T:p.D163D Score=497;Name=lod=140 ID=COSM1514811,COSM1514809,COSM1514810;OCCURENCE=1(lung) 108 33 0.234 130 0 0.000 5.89278565404021432e-11 0.727 --- 121,91,30,0.248 107,107,0,0.000 8.871 60 chr14 105212719 105212719 G A exonic ADSSL1 nonsynonymous SNV ADSSL1:NM_152328:exon12:c.G1318A:p.A440T,ADSSL1:NM_199165:exon12:c.G1447A:p.A483T Score=513;Name=lod=162 0 0.887547 N 1.0 D 0.033 B 0.999994 D 0.177258 N 0.846 178 38 0.176 235 0 0.000 1.10630793685646231e-13 0.289 --- 179,149,30,0.168 195,195,0,0.000 10.200 7.219 chr14 105344241 105344241 G A exonic CEP170B nonsynonymous SNV CEP170B:NM_015005:exon3:c.G5A:p.R2H,CEP170B:NM_001112726:exon4:c.G215A:p.R72H Score=553;Name=lod=236 0 44 9 0.170 49 0 0.000 0.00283183123457409736 0.667 --- 49,41,8,0.163 46,46,0,0.000 2.232 7.665 chr14 105452875 105452875 T A exonic C14orf79 stopgain C14orf79:NM_174891:exon1:c.T107A:p.L36X 1 0.228544 N 0.856211 NA 0.456046 NA 0.133833 U 0.999999 A 0.0858 202 47 0.189 214 0 0.000 4.39834484683007466e-14 0.532 --- 214,171,43,0.201 179,178,1,0.006 10.859 60 chr14 105612798 105612798 G A exonic JAG2 nonsynonymous SNV JAG2:NM_145159:exon21:c.C2519T:p.P840L,JAG2:NM_002226:exon22:c.C2633T:p.P878L Score=329;Name=lod=29 0.000308 rs150616867 0.45 0.99821 C 0.64 T 0.237 P 0.999366 N 0.00748 N 4.08 93 18 0.162 116 0 0.000 1.18869791111196889e-06 0.667 --- 96,78,17,0.179 104,104,0,0.000 5.815 12.885 chr14 105846492 105846492 G A splicing PACS2 NM_001243127:exon11:c.900+1G>A,NM_015197:exon11:c.1125+1G>A,NM_001100913:exon11:c.1125+1G>A Score=313;Name=lod=25 61 11 0.153 91 0 0.000 7.89260570244930632e-05 0.545 --- 57,49,8,0.140 66,66,0,0.000 2.795 9.105 chr15 23049317 23049317 C T exonic NIPA1 nonsynonymous SNV NIPA1:NM_001142275:exon5:c.G277A:p.V93M,NIPA1:NM_144599:exon5:c.G502A:p.V168M Score=557;Name=lod=244 0 0.998064 C 0.96 D 0.963 D 0.999999 D 0.998896 D 4.74 90 22 0.196 118 0 0.000 4.13006834937190701e-08 0.409 --- 99,80,19,0.192 104,104,0,0.000 6.350 8.689 chr15 23889175 23889175 C T exonic MAGEL2 nonsynonymous SNV MAGEL2:NM_019066:exon1:c.G3715A:p.A1239T 164 27 0.141 195 0 0.000 2.07259138532068581e-09 0.667 --- 153,131,22,0.144 158,158,0,0.000 7.136 6.543 chr15 24921373 24921373 G T exonic NPAP1 nonsynonymous SNV NPAP1:NM_018958:exon1:c.G359T:p.S120I 0.06 0.930662 N 0.94 T 0.754 P 0.127175 N 0.009239 N 1.06 121 26 0.177 188 0 0.000 1.28960643431961634e-10 0.577 --- 130,106,24,0.185 171,170,0,0.000 9.289 10.584 chr15 25963387 25963387 C T exonic ATP10A nonsynonymous SNV ATP10A:NM_024490:exon8:c.G1523A:p.R508Q Score=405;Name=lod=59 0.04 0.997986 C 0.52 T 0.762 P 1.0 D 0.418949 N 4.71 226 43 0.160 310 0 0.000 6.87605592302873159e-16 0.395 --- 219,188,31,0.142 251,251,0,0.000 10.810 11.109 chr15 27182336 27182336 G A exonic GABRA5 synonymous SNV GABRA5:NM_000810:exon8:c.G585A:p.A195A,GABRA5:NM_001165037:exon8:c.G585A:p.A195A 0.003661 0.0046 rs149156018 71 22 0.237 112 0 0.000 6.0595575976294024e-09 0.727 --- 79,62,17,0.215 93,93,0,0.000 6.195 60 chr15 27573967 27573967 C T exonic GABRG3 nonsynonymous SNV GABRG3:NM_001270873:exon5:c.C506T:p.A169V,GABRG3:NM_033223:exon5:c.C506T:p.A169V Score=468;Name=lod=106 0 62 8 0.114 89 0 0.000 0.00111440425586718615 0.750 --- 59,52,6,0.103 78,78,0,0.000 2.288 7.291 chr15 28361885 28361885 C A exonic HERC2 nonsynonymous SNV HERC2:NM_004667:exon88:c.G13535T:p.G4512V Score=443;Name=lod=84 0 0.998706 C 1.0 D 0.993 D 1.0 D 0.999851 D 5.12 136 28 0.171 184 0 0.000 1.87895861101338609e-10 0.357 --- 140,116,24,0.171 146,146,0,0.000 7.923 9.421 chr15 28422127 28422127 C A exonic HERC2 nonsynonymous SNV HERC2:NM_004667:exon61:c.G9401T:p.G3134V Score=469;Name=lod=107 0 0.998886 C 1.0 D 0.998 D 1.0 D 0.999401 D 5.25 112 24 0.176 125 1 0.008 7.86022377896406291e-07 0.542 0.000 110,88,22,0.200 104,103,1,0.010 5.637 11.929 chr15 28515894 28515894 G T exonic HERC2 nonsynonymous SNV HERC2:NM_004667:exon10:c.C1204A:p.R402S Score=449;Name=lod=89 Score=0.958148;Name=chr15:20671064,chr15:23338469 0 0.999688 C 0.99 D 0.954 D 1.0 D 0.996934 D 5.39 120 16 0.118 148 0 0.000 4.69696607901423033e-06 0.688 --- 115,102,13,0.113 115,115,0,0.000 3.768 8.25 chr15 28525317 28525317 A G exonic HERC2 synonymous SNV HERC2:NM_004667:exon5:c.T439C:p.L147L Score=594;Name=lod=346 120 26 0.178 127 0 0.000 4.65150121274869424e-08 0.500 --- 123,102,21,0.171 106,105,0,0.000 5.745 13.959 chr15 31233936 31233936 C T exonic MTMR10 nonsynonymous SNV MTMR10:NM_017762:exon16:c.G2071A:p.V691I 0.2 195 47 0.194 292 0 0.000 4.70974002126172978e-18 0.511 --- 215,170,44,0.206 259,259,0,0.000 16.324 60 chr15 31515869 31515869 C T exonic LOC283710 nonsynonymous SNV LOC283710:NM_001243538:exon3:c.G154A:p.A52T 143 17 0.106 132 0 0.000 4.2531457252877179e-05 0.294 --- 142,128,14,0.099 119,118,0,0.000 3.783 8.138 chr15 32460234 32460234 C T exonic CHRNA7 nonsynonymous SNV CHRNA7:NM_000746:exon10:c.C1084T:p.R362W,CHRNA7:NM_001190455:exon10:c.C1171T:p.R391W Score=472;Name=lod=110 Score=0.995648;Name=chr15:30370110 rs201538174 0 0.96917 C 1.0 D 0.904 D 0.998299 N 0.998257 D 2.12 140 21 0.130 205 0 0.000 1.48607872820948289e-08 0.571 --- 99,87,12,0.121 127,127,0,0.000 4.474 9.068 chr15 32917691 32917691 G A exonic ARHGAP11A nonsynonymous SNV ARHGAP11A:NM_014783:exon6:c.G719A:p.R240H,ARHGAP11A:NM_199357:exon6:c.G719A:p.R240H Score=563;Name=lod=260 Score=0.983542;Name=chr15:30894482 0.000308 rs143960378 0.51 0.214768 N 0.44 T 0.0 B 0.188717 N 0.109104 N -1.34 148 29 0.164 197 0 0.000 1.01727983544675625e-10 0.655 --- 141,120,21,0.149 154,154,0,0.000 7.097 60 chr15 33926865 33926865 A G exonic RYR3 nonsynonymous SNV RYR3:NM_001036:exon25:c.A3106G:p.S1036G,RYR3:NM_001243996:exon25:c.A3106G:p.S1036G Score=510;Name=lod=157 0 85 13 0.133 107 0 0.000 4.36992374674661102e-05 0.615 --- 80,68,11,0.139 86,86,0,0.000 3.687 10.687 chr15 34393811 34393811 A C exonic EMC7 nonsynonymous SNV EMC7:NM_020154:exon1:c.T230G:p.F77C Score=623;Name=lod=455 0 0.998462 C 1.0 D 1.0 D 1.0 D 0.999996 D 4.57 79 13 0.141 168 0 0.000 7.60154114265138294e-07 1.000 --- 115,77,38,0.330 139,139,0,0.000 14.814 7.78 chr15 34393812 34393812 A C exonic EMC7 nonsynonymous SNV EMC7:NM_020154:exon1:c.T229G:p.F77V Score=623;Name=lod=455 0 0.998679 C 1.0 D 1.0 D 1.0 D 0.999993 D 4.72 77 36 0.319 166 0 0.000 1.47908938547683077e-16 1.000 --- 116,73,43,0.371 141,141,0,0.000 17.129 60 chr15 34648777 34648777 C T exonic NUTM1 synonymous SNV NUTM1:NM_175741:exon7:c.C2484T:p.T828T 0.000077 rs137916466 104 40 0.278 128 0 0.000 5.7198819880400297e-13 0.425 --- 130,96,33,0.256 109,109,0,0.000 9.680 60 chr15 35168138 35168138 G A exonic AQR stopgain AQR:NM_014691:exon28:c.C3235T:p.Q1079X Score=626;Name=lod=466 0 0.998941 C 0.903784 NA 0.735386 NA 1.0 D 1.0 A 3.94 58 8 0.121 63 0 0.000 0.00630907186658389199 0.375 --- 55,49,6,0.109 52,52,0,0.000 1.564 4.222 chr15 35189165 35189165 T C exonic AQR nonsynonymous SNV AQR:NM_014691:exon22:c.A2393G:p.N798S Score=634;Name=lod=501 0 0.998046 C 0.945643 NA 0.998 D 1.0 D 0.790896 D 5.34 65 9 0.122 94 0 0.000 0.000467853729590443403 0.222 --- 60,51,9,0.150 76,76,0,0.000 3.355 9.886 chr15 35192884 35192884 A G exonic AQR nonsynonymous SNV AQR:NM_014691:exon20:c.T2182C:p.F728L Score=518;Name=lod=170 0 0.999103 C 0.949026 NA 0.999 D 1.0 D 0.84133 D 5.61 126 34 0.213 169 0 0.000 3.02476923990458896e-12 0.588 --- 134,107,27,0.201 144,144,0,0.000 9.212 60 chr15 35275465 35275465 A G exonic ZNF770 synonymous SNV ZNF770:NM_014106:exon3:c.T171C:p.C57C Score=526;Name=lod=183 Score=0.938484;Name=chrX:102342090 118 22 0.157 161 0 0.000 1.86856764771351481e-08 0.545 --- 122,101,21,0.172 138,138,0,0.000 7.334 11.182 chr15 37385898 37385898 A G exonic MEIS2 nonsynonymous SNV MEIS2:NM_172315:exon5:c.T484C:p.Y162H,MEIS2:NM_002399:exon6:c.T484C:p.Y162H,MEIS2:NM_170674:exon6:c.T523C:p.Y175H,MEIS2:NM_170675:exon6:c.T523C:p.Y175H,MEIS2:NM_170676:exon6:c.T523C:p.Y175H,MEIS2:NM_170677:exon6:c.T523C:p.Y175H,MEIS2:NM_172316:exon6:c.T259C:p.Y87H,MEIS2:NM_001220482:exon7:c.T523C:p.Y175H Score=660;Name=lod=639 0 0.999218 C 1.0 D 0.999 D 1.0 D 0.997612 D 5.74 149 39 0.207 220 0 0.000 7.06207165711101793e-15 0.410 --- 155,128,27,0.174 181,181,0,0.000 9.651 60 chr15 40913372 40913372 C T exonic CASC5 nonsynonymous SNV CASC5:NM_144508:exon10:c.C910T:p.R304W,CASC5:NM_170589:exon11:c.C988T:p.R330W 0.02 0.152044 N 0.96 D 0.996 D 0.817862 N 0.002467 N -0.883 77 16 0.172 133 0 0.000 2.96248324471275447e-07 0.312 --- 82,67,15,0.183 112,112,0,0.000 5.961 8.916 chr15 41865542 41865542 C T exonic TYRO3 synonymous SNV TYRO3:NM_006293:exon17:c.C2022T:p.F674F Score=497;Name=lod=140 124 38 0.235 183 0 0.000 2.47564116076353173e-14 0.553 --- 139,109,30,0.216 154,154,0,0.000 10.515 60 chr15 42156126 42156126 G T exonic SPTBN5 synonymous SNV SPTBN5:NM_016642:exon40:c.C7015A:p.R2339R Score=317;Name=lod=26 113 13 0.103 136 0 0.000 5.24919756441050104e-05 0.692 --- 108,96,12,0.111 106,106,0,0.000 3.450 8.021 chr15 42171668 42171668 T C exonic SPTBN5 nonsynonymous SNV SPTBN5:NM_016642:exon16:c.A2972G:p.E991G Score=456;Name=lod=95 0 108 70 0.393 201 0 0.000 1.32419514599550311e-27 0.429 --- 154,88,66,0.429 168,167,0,0.000 25.085 60 chr15 42276047 42276047 C A exonic PLA2G4E stopgain PLA2G4E:NM_001206670:exon20:c.G2512T:p.E838X Score=432;Name=lod=76 0.11 109 75 0.408 168 0 0.000 7.96921284546631092e-26 0.400 --- 146,87,59,0.404 135,135,0,0.000 19.767 60 chr15 42631915 42631915 G A exonic GANC nonsynonymous SNV GANC:NM_198141:exon17:c.G1892A:p.R631H Score=564;Name=lod=261 0.000077 rs200940239 0 0.999788 C 1.0 D 0.981 D 1.0 D 0.999774 D 5.68 104 44 0.297 146 0 0.000 2.71243188864589585e-15 0.636 --- 123,87,36,0.293 123,122,0,0.000 11.842 60 chr15 42693888 42693888 C T exonic CAPN3 synonymous SNV CAPN3:NM_173087:exon10:c.C1260T:p.D420D,CAPN3:NM_000070:exon11:c.C1404T:p.D468D,CAPN3:NM_024344:exon11:c.C1404T:p.D468D Score=558;Name=lod=246 65 40 0.381 111 0 0.000 2.58952978322040749e-15 0.625 --- 95,58,36,0.383 88,88,0,0.000 12.064 60 chr15 43027341 43027341 C T exonic CDAN1 nonsynonymous SNV CDAN1:NM_138477:exon6:c.G1093A:p.D365N Score=516;Name=lod=166 1 0.999098 C 0.0 T 0.0050 B 1.0 D 0.173492 N 5.45 54 33 0.379 80 0 0.000 1.24688786004491632e-11 0.576 --- 75,49,26,0.347 71,71,0,0.000 8.564 60 chr15 43525855 43525855 G A exonic TGM5 nonsynonymous SNV TGM5:NM_004245:exon11:c.C1660T:p.L554F,TGM5:NM_201631:exon12:c.C1906T:p.L636F Score=497;Name=lod=140 0.01 0.999678 C 0.97 D 0.958 D 0.914313 N 0.807971 D 4.84 107 16 0.130 155 0 0.000 1.20809871457771279e-06 0.438 --- 103,91,12,0.117 123,123,0,0.000 4.255 7.955 chr15 43733765 43733765 T C exonic TP53BP1 synonymous SNV TP53BP1:NM_001141979:exon15:c.A3057G:p.E1019E,TP53BP1:NM_001141980:exon15:c.A3057G:p.E1019E,TP53BP1:NM_005657:exon15:c.A3042G:p.E1014E Score=592;Name=lod=338 42 31 0.425 65 0 0.000 8.89293061706395477e-11 0.419 --- 58,34,24,0.414 51,51,0,0.000 7.528 60 chr15 44876406 44876406 T C exonic SPG11 synonymous SNV SPG11:NM_001160227:exon30:c.A5472G:p.R1824R,SPG11:NM_025137:exon30:c.A5472G:p.R1824R 104 90 0.464 158 0 0.000 2.2971303413471215e-29 0.511 --- 165,90,74,0.451 132,132,0,0.000 23.024 60 chr15 45003812 45003812 G A splicing B2M NM_004048:exon1:c.67+1G>A Score=333;Name=lod=30 ID=COSM144855;OCCURENCE=2(haematopoietic_and_lymphoid_tissue),1(large_intestine) 95 46 0.326 113 0 0.000 4.84506205574802797e-14 0.500 --- 109,70,38,0.352 92,92,0,0.000 11.748 60 chr15 48470328 48470328 G A exonic MYEF2 nonsynonymous SNV MYEF2:NM_016132:exon1:c.C107T:p.A36V Score=507;Name=lod=154 0.1 0.966889 C 0.87 T 0.0 B 0.774094 N 0.0 N 1.63 215 26 0.108 343 0 0.000 4.40051359281924215e-11 0.615 --- 208,180,27,0.130 269,269,0,0.000 10.208 5.274 chr15 50776541 50776541 G A exonic USP8 nonsynonymous SNV USP8:NM_001128610:exon12:c.G1873A:p.D625N,USP8:NM_005154:exon12:c.G1873A:p.D625N,USP8:NM_001128611:exon13:c.G1873A:p.D625N Score=505;Name=lod=150 0.04 0.996674 C 0.17 T 0.129 B 0.97234 N 0.033212 N 3.62 69 25 0.266 95 0 0.000 4.09978580003304662e-09 0.400 --- 80,59,21,0.262 77,75,0,0.000 6.586 10.144 chr15 51773499 51773499 G T exonic DMXL2 nonsynonymous SNV DMXL2:NM_001174117:exon22:c.C3896A:p.P1299H,DMXL2:NM_001174116:exon24:c.C5804A:p.P1935H,DMXL2:NM_015263:exon24:c.C5804A:p.P1935H 0.06 0.953122 C 0.88 T 0.0060 B 0.926922 N 0.017225 N 2.97 99 51 0.340 181 0 0.000 1.09843940294766707e-20 0.412 --- 126,79,47,0.373 152,152,0,0.000 18.655 60 chr15 52404788 52404788 C T exonic BCL2L10 nonsynonymous SNV BCL2L10:NM_020396:exon1:c.G136A:p.A46T 0.02 0.888835 N 0.83 T 0.650769 NA 0.999914 D 0.866865 D 1.43 243 37 0.132 344 0 0.000 3.27184236667243137e-14 0.514 --- 241,210,31,0.129 292,292,0,0.000 11.175 10.574 chr15 55965711 55965711 C T exonic PRTG synonymous SNV PRTG:NM_173814:exon10:c.G1710A:p.P570P 98 41 0.295 136 0 0.000 3.08406195412544435e-14 0.463 --- 118,82,35,0.299 114,114,0,0.000 11.499 13.628 chr15 56756402 56756402 T G exonic MNS1 nonsynonymous SNV MNS1:NM_018365:exon2:c.A47C:p.K16T Score=391;Name=lod=52 0.01 0.99843 C 0.75 T 0.81 P 0.9912 N 0.344908 N 5.57 83 15 0.153 115 0 0.000 4.69557527727366483e-06 0.333 --- 85,74,11,0.129 99,99,0,0.000 3.850 7.259 chr15 57745958 57745958 A T exonic CGNL1 nonsynonymous SNV CGNL1:NM_032866:exon7:c.A2132T:p.H711L,CGNL1:NM_001252335:exon8:c.A2132T:p.H711L Score=559;Name=lod=250 0.04 0.998329 C 0.86 T 0.999 D 0.983789 N 0.092805 N 5.0 131 21 0.138 162 0 0.000 1.1251596002416138e-07 0.571 --- 120,103,17,0.142 125,125,0,0.000 5.540 5.203 chr15 58837954 58837954 G A exonic LIPC synonymous SNV LIPC:NM_000236:exon5:c.G588A:p.A196A 0.001388 0.0018 rs34351746 66 22 0.250 109 0 0.000 3.82850006607954173e-09 0.864 --- 81,60,20,0.250 95,95,0,0.000 7.436 11.52 chr15 64005005 64005005 T G exonic HERC1 nonsynonymous SNV HERC1:NM_003922:exon24:c.A4553C:p.Q1518P Score=661;Name=lod=645 0.05 104 14 0.119 90 0 0.000 0.00034828697226049166 0.571 --- 95,83,12,0.126 72,72,0,0.000 2.888 8.403 chr15 64019857 64019857 C T exonic HERC1 stopgain HERC1:NM_003922:exon17:c.G3335A:p.W1112X Score=661;Name=lod=645 0.05 49 30 0.380 102 0 0.000 3.48941983915292782e-13 0.733 --- 69,45,24,0.348 86,86,0,0.000 9.597 14.331 chr15 64446698 64446698 G A exonic SNX22 synonymous SNV SNX22:NM_024798:exon7:c.G573A:p.P191P 0.000538 0.0009 rs143435068 148 18 0.108 168 0 0.000 2.09836038809198187e-06 0.278 --- 147,130,17,0.116 144,144,0,0.000 5.025 8.079 chr15 65369195 65369195 C T exonic KBTBD13 synonymous SNV KBTBD13:NM_001101362:exon1:c.C42T:p.G14G Score=399;Name=lod=56 111 65 0.369 179 0 0.000 9.99574224875466773e-24 0.631 --- 151,92,59,0.391 150,150,0,0.000 20.541 13.851 chr15 65369530 65369530 C T exonic KBTBD13 nonsynonymous SNV KBTBD13:NM_001101362:exon1:c.C377T:p.A126V Score=423;Name=lod=70 0.1 157 95 0.377 242 0 0.000 3.49523027830654218e-33 0.432 --- 208,126,81,0.391 212,208,1,0.005 27.112 60 chr15 65385442 65385442 G A exonic UBAP1L nonsynonymous SNV UBAP1L:NM_001163692:exon5:c.C1139T:p.A380V Score=309;Name=lod=24 131 82 0.385 270 0 0.000 1.45146580862632725e-34 0.549 --- 182,116,66,0.363 217,217,0,0.000 25.900 60 chr15 66792701 66792701 T C exonic RPL4 nonsynonymous SNV RPL4:NM_000968:exon8:c.A847G:p.K283E Score=637;Name=lod=516 0.07 0.996485 C 0.93 T 0.852 D 1.0 D 0.99996 D 4.68 51 47 0.480 85 0 0.000 2.92752995594282956e-16 0.319 --- 81,46,35,0.432 68,68,0,0.000 10.874 60 chr15 68582075 68582075 G A exonic FEM1B nonsynonymous SNV FEM1B:NM_015322:exon2:c.G379A:p.A127T Score=686;Name=lod=821 0.06 0.999701 C 0.88 T 0.853 D 1.0 D 0.999987 D 5.42 66 27 0.290 151 0 0.000 3.28490494876892515e-13 0.556 --- 81,57,24,0.296 124,124,0,0.000 10.718 60 chr15 72460138 72460138 C T exonic GRAMD2 nonsynonymous SNV GRAMD2:NM_001012642:exon5:c.G311A:p.R104Q Score=656;Name=lod=616 0.02 0.998789 C 0.96 D 1.0 D 1.0 D 0.986193 D 4.65 30 21 0.412 71 0 0.000 5.58175736293488464e-10 0.429 --- 44,26,18,0.409 53,53,0,0.000 7.213 14.841 chr15 72499509 72499509 G A exonic PKM nonsynonymous SNV PKM:NM_001206797:exon6:c.C724T:p.R242W,PKM:NM_001206798:exon7:c.C901T:p.R301W,PKM:NM_001206799:exon7:c.C961T:p.R321W,PKM:NM_002654:exon7:c.C946T:p.R316W,PKM:NM_182470:exon7:c.C946T:p.R316W,PKM:NM_182471:exon7:c.C946T:p.R316W,PKM:NM_001206796:exon8:c.C1168T:p.R390W Score=706;Name=lod=982 0.000077 rs147956260 0 0.987556 C 1.0 D 0.999 D 1.0 D 0.999992 D 2.55 57 30 0.345 96 0 0.000 8.61608366749405542e-12 0.433 --- 75,48,27,0.360 83,83,0,0.000 10.039 9.503 chr15 72837235 72837235 G A exonic ARIH1 nonsynonymous SNV ARIH1:NM_005744:exon3:c.G518A:p.R173H Score=742;Name=lod=1377 0.1 0.999654 C 0.88 T 0.024 B 0.999998 D 0.986811 D 5.31 73 51 0.411 114 0 0.000 9.40155136338235433e-18 0.569 --- 95,56,39,0.411 86,86,0,0.000 12.791 60 chr15 73415081 73415081 G A exonic NEO1 nonsynonymous SNV NEO1:NM_001172623:exon3:c.G664A:p.V222I,NEO1:NM_001172624:exon3:c.G664A:p.V222I,NEO1:NM_002499:exon3:c.G664A:p.V222I 0.0005 rs142363521 0.49 0.007079 N 0.49 T 0.0 B 0.432398 N 0.0 NA -9.62 120 34 0.221 139 0 0.000 8.92717509957639568e-11 0.471 --- 120,92,28,0.233 121,121,0,0.000 9.257 60 chr15 73995186 73995186 G A exonic CD276 synonymous SNV CD276:NM_001024736:exon4:c.G492A:p.T164T Score=475;Name=lod=114 234 123 0.345 380 0 0.000 3.71464245112030073e-45 0.667 --- 290,188,102,0.352 318,318,0,0.000 37.705 60 chr15 74219393 74219393 G T exonic LOXL1 nonsynonymous SNV LOXL1:NM_005576:exon1:c.G269T:p.G90V Score=295;Name=lod=21 0 0.997777 C 1.0 D 0.992 D 0.999693 D 0.658342 D 3.37 149 22 0.129 184 0 0.000 4.97088428751822573e-08 0.545 --- 139,118,21,0.151 159,159,0,0.000 7.333 7.73 chr15 74219922 74219922 C G exonic LOXL1 synonymous SNV LOXL1:NM_005576:exon1:c.C798G:p.P266P Score=495;Name=lod=137 292 38 0.115 281 0 0.000 2.59626560276533719e-11 0.526 --- 255,220,33,0.130 213,213,0,0.000 9.155 9.07 chr15 75093202 75093202 G A exonic CSK nonsynonymous SNV CSK:NM_004383:exon8:c.G661A:p.V221I,CSK:NM_001127190:exon9:c.G661A:p.V221I Score=476;Name=lod=115 0.21 0.999502 C 0.64 T 0.096 B 1.0 D 0.999918 D 4.52 129 66 0.338 161 0 0.000 1.37214657588932659e-20 0.485 --- 168,111,56,0.335 154,154,0,0.000 18.082 60 chr15 75132878 75132878 C T exonic ULK3 nonsynonymous SNV ULK3:NM_001099436:exon5:c.G574A:p.A192T Score=349;Name=lod=35 0 139 99 0.416 239 1 0.004 1.4510163002935124e-34 0.505 1.000 199,118,79,0.401 197,195,1,0.005 26.064 60 chr15 75185080 75185080 C T exonic MPI nonsynonymous SNV MPI:NM_002435:exon4:c.C424T:p.L142F Score=586;Name=lod=320 0 0.99862 C 1.0 D 0.995 D 1.0 D 0.999968 D 5.07 118 94 0.443 187 0 0.000 5.83602381109228263e-32 0.511 --- 168,92,76,0.452 155,155,0,0.000 26.202 60 chr15 75651050 75651050 C A exonic MAN2C1 nonsynonymous SNV MAN2C1:NM_001256496:exon17:c.G1944T:p.E648D,MAN2C1:NM_001256494:exon19:c.G2292T:p.E764D,MAN2C1:NM_001256495:exon19:c.G2241T:p.E747D,MAN2C1:NM_006715:exon19:c.G2241T:p.E747D Score=534;Name=lod=198 0.03 0.982218 C 0.83 T 0.977 D 1.0 D 0.940617 D 4.18 72 49 0.405 116 0 0.000 1.2800124952028083e-17 0.367 --- 101,62,39,0.386 99,99,0,0.000 13.402 60 chr15 76496387 76496387 C A exonic C15orf27 nonsynonymous SNV C15orf27:NM_152335:exon11:c.C1327A:p.L443M Score=474;Name=lod=113 0 0.956351 C 1.0 D 0.956 D 1.0 D 0.995048 D 3.24 217 26 0.107 249 0 0.000 5.30076793627360732e-09 0.577 --- 210,186,24,0.114 212,212,0,0.000 7.578 8.704 chr15 79068654 79068654 C T exonic ADAMTS7 nonsynonymous SNV ADAMTS7:NM_014272:exon11:c.G1582A:p.V528I Score=494;Name=lod=136 Score=0.949488;Name=chr15:78259695 0.000077 0.33 0.995625 C 0.8 T 0.104 B 0.995585 N 0.031566 N 3.48 146 82 0.360 234 0 0.000 8.338573053097492e-30 0.341 --- 187,123,64,0.342 190,190,0,0.000 22.349 6.026 chr15 79586548 79586548 A T exonic ANKRD34C nonsynonymous SNV ANKRD34C:NM_001146341:exon2:c.A922T:p.T308S 0.74 226 34 0.131 282 0 0.000 4.28611635658962592e-12 0.382 --- 224,195,29,0.129 238,238,0,0.000 9.551 15.353 chr15 83491904 83491904 T C exonic WHAMM synonymous SNV WHAMM:NM_001080435:exon6:c.T1323C:p.L441L Score=0.932957;Name=chr15:30762904 166 19 0.103 221 0 0.000 1.92533914652485166e-07 0.632 --- 158,142,16,0.101 194,194,0,0.000 5.757 7.825 chr15 85200495 85200495 C T exonic NMB nonsynonymous SNV NMB:NM_021077:exon2:c.G242A:p.R81Q,NMB:NM_205858:exon2:c.G242A:p.R81Q 0.09 0.248869 N 0.44 T 0.99 D 0.947587 N 0.009995 N -0.0628 140 17 0.108 156 0 0.000 9.65793317710660177e-06 0.412 --- 136,119,17,0.125 122,122,0,0.000 4.890 6.211 chr15 89862560 89862560 G A exonic POLG synonymous SNV POLG:NM_001126131:exon19:c.C3003T:p.G1001G,POLG:NM_002693:exon19:c.C3003T:p.G1001G 0.000077 ID=COSM271478;OCCURENCE=1(large_intestine) rs146064249 83 63 0.432 164 0 0.000 2.87875218458835894e-25 0.365 --- 125,72,53,0.424 135,134,0,0.000 19.932 60 chr15 89864001 89864001 G A exonic POLG nonsynonymous SNV POLG:NM_001126131:exon18:c.C2977T:p.R993C,POLG:NM_002693:exon18:c.C2977T:p.R993C Score=458;Name=lod=97 0 0.999399 C 1.0 D 1.0 D 1.0 D 0.999947 D 4.89 92 33 0.264 123 0 0.000 2.08234979238962743e-11 0.606 --- 105,77,28,0.267 107,107,0,0.000 9.455 6.332 chr15 90174814 90174814 T C exonic KIF7 nonsynonymous SNV KIF7:NM_198525:exon15:c.A3023G:p.D1008G Score=578;Name=lod=297 0.07 0.996931 C 0.92 T 0.687 P 0.999679 D 0.028733 N 4.85 150 26 0.148 145 0 0.000 7.72469325044101908e-08 0.615 --- 143,123,20,0.140 121,121,0,0.000 5.358 3.714 chr15 90190265 90190265 C A exonic KIF7 nonsynonymous SNV KIF7:NM_198525:exon7:c.G1584T:p.Q528H Score=537;Name=lod=203 0 0.903624 N 1.0 D 0.98 D 0.999998 N 0.047718 N 0.442 65 47 0.420 122 0 0.000 1.5142255755114533e-18 0.277 --- 106,60,46,0.434 106,106,0,0.000 16.281 60 chr15 90903550 90903550 A G exonic ZNF774 nonsynonymous SNV ZNF774:NM_001004309:exon4:c.A487G:p.S163G Score=439;Name=lod=81 0.18 0.969453 C 0.85 T 0.013 B 0.986292 N 0.424956 N 3.42 169 26 0.133 190 0 0.000 1.2824165256576728e-08 0.577 --- 175,153,22,0.126 168,168,0,0.000 6.588 12.825 chr15 91172580 91172580 A G exonic CRTC3 nonsynonymous SNV CRTC3:NM_001042574:exon11:c.A1082G:p.H361R,CRTC3:NM_022769:exon11:c.A1082G:p.H361R Score=361;Name=lod=39 0.15 0.998847 C 0.932464 NA 0.853 D 0.902375 N 0.983025 D 4.83 121 19 0.136 166 0 0.000 1.73764818705871879e-07 0.684 --- 120,102,18,0.150 140,140,0,0.000 6.366 60 chr15 91485767 91485767 T C exonic UNC45A nonsynonymous SNV UNC45A:NM_018671:exon7:c.T788C:p.V263A,UNC45A:NM_001039675:exon10:c.T743C:p.V248A Score=533;Name=lod=195 1 0.998254 C 0.4 T 0.0020 B 0.99962 D 0.5319 D 4.47 187 22 0.105 223 0 0.000 6.32969121103157043e-08 0.364 --- 166,148,18,0.108 175,174,0,0.000 5.821 8.255 chr15 91542243 91542243 C T exonic VPS33B nonsynonymous SNV VPS33B:NM_018668:exon23:c.G1816A:p.A606T Score=401;Name=lod=57 ID=COSM1375503;OCCURENCE=1(large_intestine) 0.8 0.999139 C 0.34 T 0.036 B 0.99998 D 0.751508 D 5.5 73 33 0.311 100 0 0.000 1.85973405169943861e-11 0.364 --- 93,64,29,0.312 77,76,0,0.000 8.522 13.787 chr15 93173549 93173549 C T exonic FAM174B nonsynonymous SNV FAM174B:NM_207446:exon2:c.G371A:p.R124H Score=535;Name=lod=200 0 77 11 0.125 84 0 0.000 0.00071797888907391266 0.364 --- 74,66,8,0.108 76,76,0,0.000 2.543 7.96 chr15 98982904 98982904 G A exonic FAM169B synonymous SNV FAM169B:NM_182562:exon7:c.C535T:p.L179L 138 58 0.296 223 0 0.000 3.75899442101802703e-22 0.500 --- 158,104,53,0.338 170,170,0,0.000 19.278 60 chr15 100269795 100269795 C T exonic LYSMD4 nonsynonymous SNV LYSMD4:NM_152449:exon6:c.G427A:p.E143K rs200150205 0.21 0.997972 C 0.21 T 0.28 P 0.969801 N 0.529159 D 3.7 165 71 0.301 238 0 0.000 6.07863956393725002e-25 0.479 --- 196,133,62,0.318 213,209,0,0.000 22.210 60 chr16 129613 129613 T G exonic MPG nonsynonymous SNV MPG:NM_001015052:exon2:c.T214G:p.S72A,MPG:NM_001015054:exon2:c.T178G:p.S60A,MPG:NM_002434:exon3:c.T229G:p.S77A 0.01 0.783245 N 0.99 D 0.092 B 0.830221 N 0.016362 N 1.41 229 30 0.116 225 0 0.000 4.52234681986303166e-09 0.400 --- 218,191,27,0.124 198,198,0,0.000 7.906 6.412 chr16 138838 138838 C T exonic NPRL3 unknown UNKNOWN Score=595;Name=lod=348 0.14 125 33 0.209 157 0 0.000 3.60095216080106525e-11 0.424 --- 125,101,24,0.192 128,128,0,0.000 7.885 14.423 chr16 314975 314975 C T exonic ITFG3 nonsynonymous SNV ITFG3:NM_032039:exon13:c.C1613T:p.A538V 0.07 0.967193 C 0.741549 NA 0.0020 B 0.15768 N 0.157975 N 3.0 178 26 0.127 226 0 0.000 1.55765183065519476e-09 0.500 --- 167,148,19,0.114 191,191,0,0.000 6.543 14.477 chr16 354441 354441 G A exonic AXIN1 nonsynonymous SNV AXIN1:NM_003502:exon5:c.C1117T:p.R373C,AXIN1:NM_181050:exon5:c.C1117T:p.R373C Score=410;Name=lod=62 0.000077 rs140421619 0 0.999318 C 1.0 D 1.0 D 1.0 D 0.999999 D 4.47 163 21 0.114 203 0 0.000 8.79050656606896447e-08 0.286 --- 156,138,18,0.115 166,166,0,0.000 5.898 10.36 chr16 461568 461568 C T exonic DECR2 nonsynonymous SNV DECR2:NM_020664:exon8:c.C869T:p.A290V Score=473;Name=lod=112 0.02 0.998514 C 0.98 D 0.063 B 0.818966 N 0.47121 NA 4.99 137 47 0.255 180 0 0.000 5.49352764032719557e-16 0.404 --- 155,117,38,0.245 158,158,0,0.000 12.732 60 chr16 602212 602212 G T exonic SOLH nonsynonymous SNV SOLH:NM_005632:exon10:c.G2507T:p.R836M Score=528;Name=lod=186 0 0.998967 C 0.99 D 0.995 D 1.0 D 0.788782 NA 4.5 151 24 0.137 179 0 0.000 1.92905822610727098e-08 0.500 --- 153,131,22,0.144 150,149,1,0.007 5.559 7.101 chr16 602898 602898 C T exonic SOLH synonymous SNV SOLH:NM_005632:exon13:c.C2940T:p.H980H Score=558;Name=lod=248 0.0005 rs200592136 127 19 0.130 147 0 0.000 9.54054866286298853e-07 0.316 --- 134,116,18,0.134 129,129,0,0.000 5.361 9.876 chr16 614119 614119 G A exonic C16orf11 synonymous SNV C16orf11:NM_145270:exon2:c.G825A:p.G275G 183 29 0.137 211 1 0.005 2.2086643060282115e-08 0.448 0.000 203,175,28,0.138 207,205,1,0.005 7.729 6.783 chr16 778562 778562 G A exonic HAGHL nonsynonymous SNV HAGHL:NM_032304:exon5:c.G456A:p.M152I Score=358;Name=lod=38 0 0.976721 C 1.0 D 0.994 D 0.999997 N 0.988647 D 2.6 89 27 0.233 64 0 0.000 3.53149674795550192e-06 0.630 --- 97,76,21,0.216 56,56,0,0.000 4.408 6.186 chr16 844152 844152 G A exonic CHTF18 nonsynonymous SNV CHTF18:NM_022092:exon15:c.G1901A:p.R634H 0.41 183 51 0.218 192 0 0.000 6.50976585864828401e-15 0.510 --- 190,149,41,0.216 151,151,0,0.000 11.327 60 chr16 1254239 1254239 A G exonic CACNA1H synonymous SNV CACNA1H:NM_001005407:exon10:c.A2232G:p.R744R,CACNA1H:NM_021098:exon10:c.A2232G:p.R744R Score=272;Name=lod=17 163 21 0.114 226 0 0.000 2.53390881815081474e-08 0.524 --- 159,140,19,0.119 188,188,0,0.000 6.708 8.593 chr16 1262002 1262002 C T exonic CACNA1H synonymous SNV CACNA1H:NM_001005407:exon25:c.C4623T:p.I1541I,CACNA1H:NM_021098:exon25:c.C4623T:p.I1541I Score=706;Name=lod=991 144 37 0.204 188 0 0.000 4.44028985519072976e-13 0.595 --- 155,123,32,0.206 166,166,0,0.000 10.918 10.294 chr16 1416285 1416285 C T exonic UNKL nonsynonymous SNV UNKL:NM_001193389:exon6:c.G505A:p.A169T,UNKL:NM_001276414:exon6:c.G646A:p.A216T,UNKL:NM_023076:exon6:c.G655A:p.A219T,UNKL:NM_001193388:exon15:c.G2008A:p.A670T 0.49 209 60 0.223 234 0 0.000 2.01291844934250261e-18 0.517 --- 216,167,49,0.227 188,188,0,0.000 14.557 9.564 chr16 1463865 1463865 A G exonic UNKL nonsynonymous SNV UNKL:NM_001037125:exon2:c.T269C:p.V90A,UNKL:NM_001193388:exon2:c.T269C:p.V90A Score=711;Name=lod=1034 0.01 0.962419 C 0.98 D 0.024 B 0.80898 N 0.001342 N 3.29 222 31 0.123 200 0 0.000 8.62730158638970863e-09 0.613 --- 215,189,26,0.121 173,173,0,0.000 6.940 6.995 chr16 1492467 1492467 G A exonic CCDC154 synonymous SNV CCDC154:NM_001143980:exon6:c.C615T:p.A205A 121 28 0.188 142 0 0.000 2.26265941536504494e-09 0.393 --- 121,99,22,0.182 111,111,0,0.000 6.606 11.278 chr16 1550374 1550374 G T exonic TELO2 nonsynonymous SNV TELO2:NM_016111:exon8:c.G1029T:p.W343C Score=508;Name=lod=155 0 0.999206 C 1.0 D 0.999 D 1.0 D 0.999899 D 4.66 237 58 0.197 334 0 0.000 3.13764583005512775e-21 0.586 --- 250,199,50,0.201 283,283,0,0.000 17.747 9.735 chr16 1584298 1584298 G A exonic TMEM204 nonsynonymous SNV TMEM204:NM_024600:exon1:c.G22A:p.A8T,TMEM204:NM_001256541:exon2:c.G22A:p.A8T Score=439;Name=lod=81 0.05 0.98896 C 0.7 T 0.036 B 0.999998 D 0.484368 N 3.72 152 18 0.106 202 0 0.000 4.51632255823926352e-07 0.667 --- 150,131,18,0.121 172,172,0,0.000 6.253 4.419 chr16 1637229 1637229 T C exonic IFT140 nonsynonymous SNV IFT140:NM_014714:exon9:c.A979G:p.M327V 0.53 0.103507 N 0.0 T 0.0010 B 0.998573 N 1.05E-4 N -0.204 53 8 0.131 44 0 0.000 0.0195812253723796693 0.750 --- 52,44,8,0.154 37,37,0,0.000 1.726 8.347 chr16 1818703 1818703 G T splicing MAPK8IP3 NM_001040439:exon31:c.3872-1G>T,NM_015133:exon32:c.3890-1G>T Score=317;Name=lod=26 238 33 0.122 226 0 0.000 8.51137250212951237e-10 0.636 --- 225,200,25,0.111 201,201,0,0.000 7.199 10.344 chr16 1841350 1841350 C T exonic IGFALS nonsynonymous SNV IGFALS:NM_001146006:exon2:c.G1183A:p.A395T,IGFALS:NM_004970:exon2:c.G1069A:p.A357T Score=358;Name=lod=38 rs112377196 0.03 0.997837 C 0.98 D 0.0020 B 0.998051 N 0.137898 N 4.64 191 43 0.184 199 0 0.000 8.53373871353770755e-13 0.651 --- 196,156,40,0.204 173,173,0,0.000 11.811 60 chr16 2012607 2012607 C T exonic RPS2 synonymous SNV RPS2:NM_002952:exon6:c.G600A:p.R200R Score=600;Name=lod=367 165 40 0.195 184 0 0.000 1.4742449329383025e-12 0.550 --- 172,138,33,0.193 154,154,0,0.000 9.606 5.438 chr16 2024844 2024844 G A exonic TBL3 nonsynonymous SNV TBL3:NM_006453:exon6:c.G460A:p.V154M Score=412;Name=lod=63 0 0.982862 C 1.0 D 0.989 D 0.967923 N 0.919783 D 3.13 183 46 0.201 210 0 0.000 1.56908543889818379e-14 0.391 --- 213,168,44,0.208 184,184,0,0.000 12.923 13.276 chr16 2024977 2024977 G A exonic TBL3 synonymous SNV TBL3:NM_006453:exon7:c.G513A:p.S171S 194 36 0.157 226 0 0.000 6.8682119114570626e-12 0.472 --- 206,175,31,0.150 192,192,0,0.000 9.339 11.501 chr16 2138245 2138245 T C exonic TSC2 synonymous SNV TSC2:NM_001077183:exon39:c.T4977C:p.H1659H,TSC2:NM_001114382:exon40:c.T5109C:p.H1703H,TSC2:NM_000548:exon41:c.T5178C:p.H1726H Score=503;Name=lod=148 160 31 0.162 162 0 0.000 1.86145363916456492e-09 0.355 --- 178,150,28,0.157 151,151,0,0.000 7.827 11.33 chr16 2334919 2334919 G A exonic ABCA3 synonymous SNV ABCA3:NM_001089:exon24:c.C3564T:p.Y1188Y Score=472;Name=lod=110 176 52 0.228 220 0 0.000 2.47074895376760862e-17 0.404 --- 175,138,37,0.211 163,163,0,0.000 11.449 15.654 chr16 2347787 2347787 C T exonic ABCA3 nonsynonymous SNV ABCA3:NM_001089:exon16:c.G2032A:p.A678T Score=462;Name=lod=101 0 0.999326 C 1.0 D 0.955 D 1.0 D 0.999897 D 5.2 169 19 0.101 191 0 0.000 1.01254164647631499e-06 0.632 --- 162,145,17,0.105 151,150,0,0.000 4.926 4.676 chr16 2983824 2983824 C T exonic FLYWCH1 nonsynonymous SNV FLYWCH1:NM_020912:exon6:c.C1354T:p.R452W,FLYWCH1:NM_032296:exon6:c.C1354T:p.R452W Score=495;Name=lod=137 0 240 46 0.161 251 0 0.000 4.47745513445017454e-14 0.587 --- 235,198,37,0.157 205,205,0,0.000 10.619 9.051 chr16 3017139 3017139 G A exonic KREMEN2 nonsynonymous SNV KREMEN2:NM_001253725:exon6:c.G752A:p.R251H,KREMEN2:NM_001253726:exon6:c.G752A:p.R251H,KREMEN2:NM_024507:exon6:c.G869A:p.R290H,KREMEN2:NM_172229:exon6:c.G869A:p.R290H Score=429;Name=lod=74 0.15 0.943249 N 0.76 T 0.0060 B 0.82299 N 3.3E-5 N 0.79 197 44 0.183 204 0 0.000 4.24637481275711987e-13 0.386 --- 203,164,39,0.192 168,168,0,0.000 10.842 8.221 chr16 3085296 3085296 C T exonic CCDC64B nonsynonymous SNV CCDC64B:NM_001103175:exon1:c.G202A:p.G68S Score=499;Name=lod=142 0 99 19 0.161 119 0 0.000 7.98513247560346888e-07 0.526 --- 105,87,18,0.171 103,103,0,0.000 5.460 11.642 chr16 3273895 3273895 C A exonic ZNF200 nonsynonymous SNV ZNF200:NM_001145446:exon5:c.G1182T:p.K394N,ZNF200:NM_001145447:exon5:c.G1182T:p.K394N,ZNF200:NM_001145448:exon5:c.G1182T:p.K394N,ZNF200:NM_003454:exon5:c.G1185T:p.K395N,ZNF200:NM_198087:exon5:c.G1182T:p.K394N,ZNF200:NM_198088:exon5:c.G1185T:p.K395N 0 0.031987 N 1.0 D 0.497 P 0.999607 D 0.277241 N -2.93 167 27 0.139 200 0 0.000 1.83621382682985378e-09 0.481 --- 157,135,22,0.140 168,168,0,0.000 7.306 11.121 chr16 3639772 3639772 C T exonic SLX4 synonymous SNV SLX4:NM_032444:exon12:c.G3867A:p.Q1289Q 165 19 0.103 186 1 0.005 1.1730445186290851e-05 0.526 1.000 163,146,17,0.104 158,157,1,0.006 3.998 13.894 chr16 3646338 3646338 G A exonic SLX4 synonymous SNV SLX4:NM_032444:exon8:c.C1740T:p.S580S 0.0009 rs200354014 162 39 0.194 205 0 0.000 1.57299664625497673e-13 0.385 --- 169,132,36,0.214 176,176,0,0.000 12.138 10.583 chr16 4016559 4016559 G A exonic ADCY9 synonymous SNV ADCY9:NM_001116:exon11:c.C3279T:p.D1093D Score=475;Name=lod=114 230 38 0.142 251 0 0.000 3.37226307835256284e-12 0.474 --- 224,192,32,0.143 209,209,0,0.000 9.622 11.715 chr16 4242716 4242716 C A exonic SRL nonsynonymous SNV SRL:NM_001098814:exon6:c.G860T:p.R287M Score=637;Name=lod=519 0.02 0.998473 C 0.903147 NA 0.733876 NA 1.0 U 0.995167 D 4.43 184 49 0.210 230 0 0.000 2.19761653225960116e-16 0.633 --- 203,161,41,0.203 189,188,1,0.005 11.324 12.451 chr16 4393292 4393292 C T exonic CORO7-PAM16,PAM16 nonsynonymous SNV PAM16:NM_016069:exon2:c.G4A:p.A2T,CORO7-PAM16:NM_001201479:exon28:c.G2773A:p.A925T Score=564;Name=lod=261 0 0.999195 C 1.0 D 0.790271 NA 1.0 NA 0.994938 D 5.56 111 33 0.229 126 0 0.000 1.88099142836770271e-10 0.333 --- 119,88,30,0.254 110,110,0,0.000 9.432 12.353 chr16 4431531 4431531 T A exonic VASN nonsynonymous SNV VASN:NM_138440:exon2:c.T653A:p.L218H Score=395;Name=lod=54 0 0.974298 C 1.0 D 0.995 D 1.0 D 0.999974 D 4.71 253 45 0.151 333 0 0.000 3.28017446782062242e-16 0.556 --- 266,228,38,0.143 295,293,1,0.003 11.583 60 chr16 4519317 4519317 T A exonic NMRAL1 nonsynonymous SNV NMRAL1:NM_020677:exon3:c.A190T:p.I64F Score=435;Name=lod=78 0 0.997772 C 0.97 D 0.0 B 0.999999 D 5.8E-5 N 5.19 79 19 0.194 101 0 0.000 5.36838315589123025e-07 0.474 --- 82,66,16,0.195 84,84,0,0.000 5.256 14.574 chr16 4871566 4871566 C A exonic GLYR1 nonsynonymous SNV GLYR1:NM_032569:exon8:c.G714T:p.K238N Score=577;Name=lod=296 0.01 0.983058 C 0.99 D 0.194 P 1.0 D 0.903476 D 3.54 80 13 0.140 80 0 0.000 0.000231413495599693531 0.154 --- 90,78,12,0.133 72,72,0,0.000 2.903 5.224 chr16 7629838 7629838 G A exonic RBFOX1 synonymous SNV RBFOX1:NM_145891:exon3:c.G390A:p.T130T,RBFOX1:NM_145892:exon3:c.G390A:p.T130T,RBFOX1:NM_145893:exon3:c.G390A:p.T130T,RBFOX1:NM_001142334:exon4:c.G330A:p.T110T,RBFOX1:NM_001142333:exon6:c.G330A:p.T110T,RBFOX1:NM_018723:exon6:c.G330A:p.T110T Score=681;Name=lod=779 ID=COSM1158186,COSM1158187,COSM1158185;OCCURENCE=1(pancreas) 140 24 0.146 164 0 0.000 4.81142163713056867e-08 0.458 --- 140,120,18,0.130 140,138,0,0.000 5.375 14.176 chr16 7647382 7647382 G A exonic RBFOX1 nonsynonymous SNV RBFOX1:NM_145891:exon6:c.G631A:p.A211T,RBFOX1:NM_145892:exon6:c.G631A:p.A211T,RBFOX1:NM_145893:exon6:c.G631A:p.A211T,RBFOX1:NM_001142334:exon7:c.G571A:p.A191T,RBFOX1:NM_001142333:exon9:c.G571A:p.A191T,RBFOX1:NM_018723:exon9:c.G571A:p.A191T Score=588;Name=lod=326 0 0.99977 C 0.99 D 0.974 D 1.0 D 0.999998 D 5.61 38 7 0.156 84 0 0.000 0.000454025908051816104 0.429 --- 37,32,5,0.135 66,65,0,0.000 2.281 4.832 chr16 8953080 8953080 C T exonic CARHSP1 nonsynonymous SNV CARHSP1:NM_001042476:exon2:c.G106A:p.G36S,CARHSP1:NM_014316:exon2:c.G106A:p.G36S Score=457;Name=lod=96 rs2231705 0.34 0.96816 C 0.23 T 0.0030 B 0.999969 N 0.996477 D 3.4 104 33 0.241 122 0 0.000 1.53249932522447851e-10 0.667 --- 123,94,27,0.223 113,112,0,0.000 8.327 13.472 chr16 10989252 10989252 C A exonic CIITA nonsynonymous SNV CIITA:NM_000246:exon2:c.C166A:p.L56M Score=343;Name=lod=33 0 0.228544 N 1.0 D 0.956 D 0.997692 N 0.004504 N -3.3 130 21 0.139 156 0 0.000 1.58193272502535311e-07 0.524 --- 118,101,17,0.144 129,129,0,0.000 5.735 13.087 chr16 11984994 11984994 T C exonic GSPT1 nonsynonymous SNV GSPT1:NM_001130006:exon6:c.A698G:p.Y233C,GSPT1:NM_001130007:exon6:c.A287G:p.Y96C,GSPT1:NM_002094:exon6:c.A701G:p.Y234C Score=637;Name=lod=517 0 32 4 0.111 43 0 0.000 0.0392046328088966331 0.250 --- 30,26,4,0.133 35,35,0,0.000 1.393 3.382 chr16 12497317 12497317 G A exonic SNX29 synonymous SNV SNX29:NM_032167:exon18:c.G1968A:p.A656A 113 14 0.110 94 0 0.000 0.000390184145423694063 0.571 --- 95,84,11,0.116 83,83,0,0.000 3.042 8.617 chr16 12798765 12798765 C T exonic CPPED1 nonsynonymous SNV CPPED1:NM_018340:exon3:c.G431A:p.R144Q 0.000081 1 0.799105 N 0.49 T 0.0 B 0.74194 N 5.7E-5 N 1.18 162 42 0.206 183 0 0.000 3.06275863214487246e-13 0.476 --- 175,139,36,0.206 160,160,0,0.000 10.975 60 chr16 13297390 13297390 C A exonic SHISA9 synonymous SNV SHISA9:NM_001145204:exon3:c.C831A:p.A277A Score=556;Name=lod=242 187 23 0.110 188 0 0.000 2.40151734586768339e-07 0.391 --- 175,155,19,0.109 154,152,1,0.007 4.363 11.371 chr16 15489774 15489774 C T exonic MPV17L nonsynonymous SNV MPV17L:NM_001128423:exon1:c.C20T:p.A7V,MPV17L:NM_173803:exon1:c.C20T:p.A7V Score=0.961885;Name=chr16:28632484 0.05 0.948124 N 0.97 D 0.0010 B 0.971872 N 0.074651 N -1.65 117 25 0.176 150 0 0.000 4.53404506415422756e-09 0.720 --- 118,96,22,0.186 130,129,0,0.000 7.547 4.314 chr16 15853533 15853533 C T exonic MYH11 nonsynonymous SNV MYH11:NM_002474:exon12:c.G1301A:p.R434H,MYH11:NM_022844:exon12:c.G1301A:p.R434H,MYH11:NM_001040113:exon13:c.G1322A:p.R441H,MYH11:NM_001040114:exon13:c.G1322A:p.R441H Score=500;Name=lod=143 0 0.955437 C 1.0 D 0.999 D 1.0 D 0.998986 D 4.02 116 22 0.159 152 0 0.000 3.10050214065935778e-08 0.364 --- 112,92,19,0.171 120,120,0,0.000 6.427 8.949 chr16 16271376 16271376 C T exonic ABCC6 synonymous SNV ABCC6:NM_001171:exon19:c.G2523A:p.L841L 149 31 0.172 191 0 0.000 4.28026775179903896e-11 0.419 --- 136,109,27,0.199 147,147,0,0.000 9.238 15.654 chr16 19126779 19126779 G A exonic ITPRIPL2 synonymous SNV ITPRIPL2:NM_001034841:exon1:c.G996A:p.A332A Score=371;Name=lod=43 190 26 0.120 238 0 0.000 1.77185409132950375e-09 0.538 --- 192,168,24,0.125 197,197,0,0.000 7.696 11.735 chr16 19883671 19883671 G T exonic GPRC5B nonsynonymous SNV GPRC5B:NM_016235:exon2:c.C497A:p.A166E Score=456;Name=lod=95 0 0.003412 N 0.99 D 0.157 P 1.0 D 0.968475 D 4.92 119 14 0.105 161 0 0.000 1.01355030698938172e-05 0.571 --- 112,98,13,0.117 130,130,0,0.000 4.551 12.009 chr16 20043818 20043818 C T exonic GPR139 nonsynonymous SNV GPR139:NM_001002911:exon2:c.G301A:p.D101N 0.33 0.998134 C 0.67 T 0.0050 B 0.999461 N 0.059705 N -2.39 126 25 0.166 178 0 0.000 1.08906269921452453e-09 0.520 --- 127,105,22,0.173 148,148,0,0.000 7.846 14.273 chr16 20651893 20651893 C T exonic ACSM1 nonsynonymous SNV ACSM1:NM_052956:exon7:c.G1006A:p.A336T Score=355;Name=lod=37 0.58 0.891365 N 0.41 T 0.0 B 0.992239 N 0.004033 N 2.45 144 20 0.122 226 0 0.000 1.4669556547258511e-08 0.300 --- 137,120,17,0.124 183,183,0,0.000 6.525 10.445 chr16 20976590 20976590 A C exonic DNAH3 synonymous SNV DNAH3:NM_017539:exon53:c.T8616G:p.A2872A 137 31 0.185 194 0 0.000 9.04939870564466523e-12 0.419 --- 152,123,28,0.185 173,173,0,0.000 9.922 15.955 chr16 21123315 21123315 G A exonic DNAH3 nonsynonymous SNV DNAH3:NM_017539:exon13:c.C1919T:p.T640M Score=436;Name=lod=79 0.017382 0.01 0.0082 rs77634238 0.09 0.753413 N 0.9 T 0.077 B 0.260308 N 0.008431 N -0.399 70 9 0.114 66 0 0.000 0.00400627821902244291 0.444 --- 69,62,7,0.101 50,50,0,0.000 1.677 8.326 chr16 21739679 21739679 G A exonic OTOA nonsynonymous SNV OTOA:NM_170664:exon10:c.G1162A:p.G388S,OTOA:NM_001161683:exon15:c.G1897A:p.G633S,OTOA:NM_144672:exon19:c.G2134A:p.G712S ID=COSM183049;OCCURENCE=1(large_intestine) 0.61 0.074297 N 0.46 T 0.086177 NA 0.574551 N 0.066876 N -9.07 178 29 0.140 242 0 0.000 5.69442244474399428e-11 0.621 --- 173,146,26,0.151 194,194,0,0.000 8.996 7.722 chr16 22128180 22128180 A T exonic VWA3A nonsynonymous SNV VWA3A:NM_173615:exon10:c.A916T:p.M306L 0.58 81 9 0.100 66 0 0.000 0.0105723175317320023 0.556 --- 75,68,7,0.093 50,50,0,0.000 1.386 5.796 chr16 23113747 23113747 C T exonic USP31 nonsynonymous SNV USP31:NM_020718:exon6:c.G1127A:p.R376H Score=601;Name=lod=371 0 0.998545 C 0.99 D 1.0 D 0.999943 D 0.987921 D 5.0 123 35 0.222 159 0 0.000 3.11080906981398663e-12 0.400 --- 142,112,28,0.200 141,139,0,0.000 8.779 60 chr16 23224051 23224051 C T exonic SCNN1G synonymous SNV SCNN1G:NM_001039:exon9:c.C1347T:p.C449C Score=452;Name=lod=92 73 19 0.207 80 0 0.000 2.74797433918451518e-06 0.579 --- 79,63,16,0.203 69,69,0,0.000 4.668 13.917 chr16 23428323 23428323 G A exonic COG7 synonymous SNV COG7:NM_153603:exon9:c.C1257T:p.C419C 108 19 0.150 158 1 0.006 1.10095684066043539e-06 0.526 0.000 108,91,17,0.157 132,131,1,0.008 5.177 13.203 chr16 23619331 23619331 C T exonic PALB2 synonymous SNV PALB2:NM_024675:exon12:c.G3204A:p.G1068G Score=497;Name=lod=139 73 16 0.180 96 0 0.000 3.82424391459361641e-06 0.375 --- 75,63,12,0.160 86,86,0,0.000 4.202 9.505 chr16 23721847 23721847 A G exonic ERN2 nonsynonymous SNV ERN2:NM_033266:exon3:c.T367C:p.Y123H Score=483;Name=lod=122 0.24 0.998469 C 0.5 T 0.411762 NA 0.999913 D 0.566767 D 4.56 94 19 0.168 81 0 0.000 2.6269986427202845e-05 0.368 --- 91,76,14,0.156 65,65,0,0.000 3.437 8.608 chr16 24922816 24922816 G A exonic SLC5A11 nonsynonymous SNV SLC5A11:NM_001258412:exon15:c.G1780A:p.V594M,SLC5A11:NM_001258414:exon15:c.G1522A:p.V508M,SLC5A11:NM_001258411:exon16:c.G1885A:p.V629M,SLC5A11:NM_001258413:exon16:c.G1798A:p.V600M,SLC5A11:NM_052944:exon16:c.G1990A:p.V664M 0 rs199739042 0.17 0.02432 N 0.25 T 0.0 B 0.986589 N 0.081667 N -3.45 143 24 0.144 173 0 0.000 1.57271362706440299e-08 0.417 --- 136,115,21,0.154 132,132,0,0.000 6.366 10.466 chr16 25186263 25186263 A T exonic LCMT1 nonsynonymous SNV LCMT1:NM_001032391:exon8:c.A725T:p.E242V,LCMT1:NM_016309:exon10:c.A890T:p.E297V Score=552;Name=lod=234 0 41 18 0.305 67 0 0.000 2.31497727950751787e-07 0.667 --- 46,34,12,0.261 52,52,0,0.000 4.320 60 chr16 27363945 27363945 C T exonic IL4R nonsynonymous SNV IL4R:NM_001257406:exon6:c.C598T:p.R200W,IL4R:NM_001257997:exon6:c.C118T:p.R40W,IL4R:NM_000418:exon7:c.C598T:p.R200W,IL4R:NM_001257407:exon7:c.C553T:p.R185W 0.000077 0 0.996565 C 1.0 D 1.0 D 0.964428 N 0.946446 D 2.5 93 25 0.212 103 0 0.000 7.4506697329442192e-08 0.520 --- 91,71,20,0.220 77,77,0,0.000 5.556 14.492 chr16 27481557 27481557 G A exonic GTF3C1 synonymous SNV GTF3C1:NM_001520:exon31:c.C4686T:p.D1562D Score=429;Name=lod=74 69 10 0.127 88 0 0.000 0.000407826741592414551 0.400 --- 65,56,9,0.138 73,73,0,0.000 3.079 5.712 chr16 28508881 28508881 G A exonic APOBR nonsynonymous SNV APOBR:NM_018690:exon2:c.G2519A:p.R840Q 0.000082 231 27 0.105 261 0 0.000 3.09655492742929322e-09 0.407 --- 222,201,21,0.095 224,224,0,0.000 6.579 8.123 chr16 28515363 28515363 G T exonic IL27 nonsynonymous SNV IL27:NM_145659:exon2:c.C40A:p.L14M Score=393;Name=lod=53 0 0.97465 C 1.0 D 0.0090 B 0.998835 N 0.00821 N 3.04 88 16 0.154 123 0 0.000 1.91899160338587768e-06 0.375 --- 86,71,15,0.174 99,99,0,0.000 5.300 7.572 chr16 28880582 28880582 C G exonic SH2B1 nonsynonymous SNV SH2B1:NM_015503:exon4:c.C1187G:p.T396S,SH2B1:NM_001145795:exon5:c.C1187G:p.T396S,SH2B1:NM_001145796:exon5:c.C1187G:p.T396S,SH2B1:NM_001145797:exon5:c.C1187G:p.T396S,SH2B1:NM_001145812:exon5:c.C1187G:p.T396S Score=451;Name=lod=91 0.71 0.974825 C 0.57 T 0.03 B 0.990195 N 0.0 N 3.64 130 21 0.139 161 0 0.000 1.1139491119585236e-07 0.524 --- 123,107,16,0.130 135,134,0,0.000 5.356 12.97 chr16 28948663 28948663 G A exonic CD19 nonsynonymous SNV CD19:NM_001178098:exon9:c.G1270A:p.D424N,CD19:NM_001770:exon9:c.G1270A:p.D424N 0.03 0.999279 C 1.0 D 0.86 D 0.999917 D 0.377028 N 2.4 76 16 0.174 71 0 0.000 7.25974555099697961e-05 0.500 --- 90,76,14,0.156 64,64,0,0.000 3.409 10.859 chr16 28996235 28996235 C G exonic LAT nonsynonymous SNV LAT:NM_001014989:exon1:c.C53G:p.A18G 0 79 13 0.141 87 0 0.000 0.000163566232093076913 0.615 --- 75,63,11,0.149 76,76,0,0.000 3.552 5.085 chr16 29756050 29756050 G A exonic C16orf54 nonsynonymous SNV C16orf54:NM_175900:exon2:c.C223T:p.R75C Score=369;Name=lod=42 0.05 0.997782 C 0.95 T 0.998 D 0.989958 U 0.342012 N 2.5 177 41 0.188 231 0 0.000 1.61214855831694107e-14 0.537 --- 184,146,37,0.202 191,191,0,0.000 12.383 10.156 chr16 29989172 29989172 C A exonic TAOK2 nonsynonymous SNV TAOK2:NM_001252043:exon2:c.C79A:p.L27I,TAOK2:NM_004783:exon2:c.C79A:p.L27I,TAOK2:NM_016151:exon2:c.C79A:p.L27I Score=715;Name=lod=1077 0.5 0.998941 C 0.7 T 0.012 B 0.999999 D 0.995745 D 4.36 204 31 0.132 213 0 0.000 7.79603193968453828e-10 0.548 --- 183,160,23,0.126 171,171,0,0.000 6.825 9.319 chr16 29998052 29998052 A C exonic TAOK2 nonsynonymous SNV TAOK2:NM_016151:exon16:c.A2459C:p.E820A Score=423;Name=lod=70 0.997827 C 1.0 D 0.105 B 0.84497 N 0.026691 N 4.76 273 53 0.163 368 0 0.000 3.55074039774531482e-19 0.472 --- 293,244,49,0.167 312,312,0,0.000 16.410 15.955 chr16 30041784 30041784 G A exonic FAM57B nonsynonymous SNV FAM57B:NM_031478:exon1:c.C65T:p.T22M Score=648;Name=lod=574 0.12 0.99903 C 0.88 T 0.0030 B 0.395039 N 0.153409 N 4.21 200 33 0.142 196 0 0.000 6.42281478434168566e-10 0.515 --- 190,165,25,0.132 163,163,0,0.000 6.869 11.889 chr16 30097996 30097996 C T exonic TBX6 nonsynonymous SNV TBX6:NM_004608:exon8:c.G934A:p.D312N Score=397;Name=lod=55 0.01 0.998548 C 0.99 D 0.979 D 0.994393 N 0.481608 N 3.83 217 57 0.208 211 0 0.000 4.94147190013138672e-16 0.421 --- 245,194,51,0.208 188,188,0,0.000 13.538 9.777 chr16 30389198 30389198 G A exonic MYLPF nonsynonymous SNV MYLPF:NM_013292:exon7:c.G487A:p.G163S Score=594;Name=lod=346 0 0.999656 C 1.0 D 0.985 D 1.0 D 0.999994 D 5.31 190 32 0.144 177 0 0.000 3.52322083570816059e-09 0.344 --- 181,154,27,0.149 145,145,0,0.000 7.279 11.768 chr16 30390491 30390491 A C exonic SEPT1 nonsynonymous SNV SEPT1:NM_052838:exon10:c.T915G:p.H305Q Score=588;Name=lod=327 0.09 0.079245 N 0.9 T 0.067 B 0.982105 N 0.250817 N -2.24 142 18 0.112 147 0 0.000 5.93828047948547153e-06 0.167 --- 146,130,16,0.110 135,134,0,0.000 4.614 14.841 chr16 30680148 30680148 C A exonic FBRS synonymous SNV FBRS:NM_001105079:exon11:c.C654A:p.A218A Score=554;Name=lod=237 174 52 0.230 175 0 0.000 9.79043830624289926e-15 0.615 --- 181,142,39,0.215 146,146,0,0.000 10.851 11.921 chr16 30762447 30762447 G A exonic PHKG2 nonsynonymous SNV PHKG2:NM_000294:exon3:c.G116A:p.R39H,PHKG2:NM_001172432:exon3:c.G116A:p.R39H Score=561;Name=lod=254 0 0.999421 C 1.0 D 1.0 D 0.999516 D 0.999945 D 4.38 99 12 0.108 102 0 0.000 0.000398729956033519333 0.750 --- 96,86,10,0.104 87,87,0,0.000 2.772 4.466 chr16 30794217 30794217 G A exonic ZNF629 nonsynonymous SNV ZNF629:NM_001080417:exon3:c.C1432T:p.R478C Score=325;Name=lod=28 274 53 0.162 353 0 0.000 1.30289484986332842e-18 0.415 --- 290,238,51,0.176 299,298,0,0.000 16.762 60 chr16 31097710 31097710 C T exonic PRSS53 nonsynonymous SNV PRSS53:NM_001039503:exon5:c.G611A:p.R204Q Score=525;Name=lod=181 0.36 0.999067 C 0.730081 NA 0.077 B 0.99751 U 0.414112 N 5.42 128 28 0.179 196 0 0.000 2.90431431489475354e-11 0.500 --- 127,106,21,0.165 155,154,0,0.000 7.670 11.201 chr16 31121780 31121780 G A exonic BCKDK nonsynonymous SNV BCKDK:NM_001122957:exon7:c.G602A:p.R201H,BCKDK:NM_001271926:exon7:c.G602A:p.R201H,BCKDK:NM_005881:exon7:c.G602A:p.R201H Score=499;Name=lod=142 0 0.999661 C 1.0 D 0.999 D 0.999997 D 0.998194 D 5.32 162 36 0.182 161 0 0.000 1.43909082509642691e-10 0.278 --- 175,145,30,0.171 137,137,0,0.000 7.926 8.1 chr16 31226205 31226205 G A exonic TRIM72 nonsynonymous SNV TRIM72:NM_001008274:exon2:c.G146A:p.G49D Score=300;Name=lod=22 0.03 0.987236 C 0.96 D 0.994 D 0.999998 D 0.941943 D 3.34 278 31 0.100 307 0 0.000 4.23041307972187307e-10 0.581 --- 259,232,27,0.104 252,252,0,0.000 8.111 4.369 chr16 31342581 31342581 C T exonic ITGAM synonymous SNV ITGAM:NM_000632:exon29:c.C3372T:p.T1124T,ITGAM:NM_001145808:exon29:c.C3375T:p.T1125T 51 14 0.215 66 0 0.000 2.49174953610394857e-05 0.429 --- 53,39,13,0.250 52,52,0,0.000 3.984 6.579 chr16 31478095 31478095 G A exonic ARMC5 nonsynonymous SNV ARMC5:NM_001105247:exon6:c.G2693A:p.R898Q Score=336;Name=lod=31 0 291 61 0.173 372 0 0.000 4.21794118953965313e-21 0.475 --- 298,244,54,0.181 307,307,0,0.000 17.771 8.952 chr16 48209243 48209243 G A exonic ABCC11 synonymous SNV ABCC11:NM_033151:exon25:c.C3624T:p.S1208S,ABCC11:NM_032583:exon26:c.C3624T:p.S1208S,ABCC11:NM_145186:exon26:c.C3624T:p.S1208S 149 45 0.232 179 0 0.000 1.05747363366835037e-14 0.378 --- 160,124,36,0.225 154,154,0,0.000 11.405 60 chr16 50707434 50707434 G A exonic SNX20 synonymous SNV SNX20:NM_182854:exon4:c.C834T:p.Y278Y 241 56 0.189 334 0 0.000 2.28144191984779294e-20 0.589 --- 261,209,52,0.199 293,293,0,0.000 18.292 14.222 chr16 51174028 51174028 G A exonic SALL1 nonsynonymous SNV SALL1:NM_001127892:exon2:c.C1814T:p.A605V,SALL1:NM_002968:exon2:c.C2105T:p.A702V Score=510;Name=lod=158 Score=0.910412;Name=chrX:49428354 0.25 0.999599 C 0.76 T 0.0 B 0.999997 D 0.138529 N 5.2 138 30 0.179 175 0 0.000 1.17745243568813251e-10 0.633 --- 148,123,25,0.169 163,163,0,0.000 8.565 11.783 chr16 53639473 53639473 C T exonic RPGRIP1L nonsynonymous SNV RPGRIP1L:NM_001127897:exon24:c.G3515A:p.C1172Y,RPGRIP1L:NM_015272:exon26:c.G3755A:p.C1252Y Score=533;Name=lod=195 0 0.999107 C 1.0 D 0.999 D 1.0 D 0.732473 D 5.46 87 13 0.130 140 0 0.000 7.03232337875759593e-06 0.385 --- 78,69,9,0.115 107,106,0,0.000 3.476 6.09 chr16 56396846 56396846 C A exonic AMFR nonsynonymous SNV AMFR:NM_001144:exon14:c.G1907T:p.R636M Score=471;Name=lod=109 0 0.984189 C 1.0 D 0.824 P 1.0 D 2.55E-4 N 4.4 163 26 0.138 253 0 0.000 8.90904522196948785e-11 0.423 --- 156,134,22,0.141 201,201,0,0.000 8.298 10.074 chr16 57286174 57286174 C T exonic ARL2BP nonsynonymous SNV ARL2BP:NM_012106:exon6:c.C487T:p.H163Y Score=265;Name=lod=16 0.02 0.946053 N 1.0 D 0.996 D 0.906658 U 0.089776 N 2.9 91 27 0.229 151 0 0.000 3.33151113420420085e-11 0.444 --- 96,73,23,0.240 117,117,0,0.000 8.672 14.222 chr16 57805490 57805490 G A exonic KIFC3 nonsynonymous SNV KIFC3:NM_001130099:exon4:c.C73T:p.P25S,KIFC3:NM_001130100:exon5:c.C490T:p.P164S,KIFC3:NM_005550:exon5:c.C490T:p.P164S 0.41 0.99918 C 0.59 T 0.099 B 0.999339 N 0.010844 N 4.65 168 20 0.106 223 0 0.000 9.02428953352564277e-08 0.700 --- 163,147,16,0.098 196,196,0,0.000 5.670 8.091 chr16 57996957 57996957 C A exonic CNGB1 nonsynonymous SNV CNGB1:NM_001135639:exon5:c.G302T:p.R101M,CNGB1:NM_001297:exon5:c.G302T:p.R101M Score=309;Name=lod=24 0.07 0.94166 N 0.92 T 0.27 P 0.830627 NA 8.6E-5 N 2.33 66 13 0.165 83 0 0.000 5.09059523438830877e-05 0.308 --- 69,58,11,0.159 68,68,0,0.000 3.198 7.847 chr16 58077168 58077168 C T exonic MMP15 nonsynonymous SNV MMP15:NM_002428:exon8:c.C1358T:p.P453L Score=371;Name=lod=43 0.000154 0.17 0.998218 C 0.73 T 0.849 P 0.999894 D 0.970745 D 4.81 147 19 0.114 165 0 0.000 2.21021848173484834e-06 0.421 --- 129,115,14,0.109 134,134,0,0.000 4.496 9.326 chr16 58079174 58079174 C T exonic MMP15 nonsynonymous SNV MMP15:NM_002428:exon10:c.C1834T:p.R612C Score=513;Name=lod=162 rs61729296 0.01 0.998234 C 0.97 D 0.984 D 0.999167 N 0.67053 D 4.3 195 41 0.174 239 0 0.000 5.16860367677388014e-14 0.537 --- 198,165,33,0.167 208,208,0,0.000 10.938 6.86 chr16 65022100 65022100 G A exonic CDH11 nonsynonymous SNV CDH11:NM_001797:exon7:c.C959T:p.T320M Score=531;Name=lod=191 0.000077 ID=COSM301905;OCCURENCE=1(central_nervous_system) 0 0.99965 C 1.0 D 0.947 D 1.0 D 0.445307 N 5.3 86 21 0.196 104 0 0.000 3.32647569467585003e-07 0.667 --- 90,72,18,0.200 82,82,0,0.000 5.392 60 chr16 66436854 66436854 A G exonic CDH5 nonsynonymous SNV CDH5:NM_001795:exon12:c.A2137G:p.K713E Score=454;Name=lod=93 0.02 0.998266 C 0.97 D 0.998 D 1.0 NA 0.990304 D 4.97 143 35 0.197 241 0 0.000 1.16353721857543439e-14 0.457 --- 164,132,32,0.195 197,196,0,0.000 11.717 15.176 chr16 66820183 66820183 C T exonic CCDC79 nonsynonymous SNV CCDC79:NM_001136505:exon7:c.G406A:p.G136R Score=340;Name=lod=32 0 49 17 0.258 76 0 0.000 6.25068672798748919e-07 0.471 --- 55,44,11,0.200 58,58,0,0.000 3.687 9.021 chr16 66887292 66887292 G A exonic CA7 nonsynonymous SNV CA7:NM_001014435:exon7:c.G518A:p.R173Q,CA7:NM_005182:exon7:c.G686A:p.R229Q Score=643;Name=lod=546 0 0.99305 C 0.99 D 1.0 D 0.999975 D 0.955287 D 4.24 83 22 0.210 119 0 0.000 1.56800979917913781e-08 0.591 --- 90,70,19,0.213 99,99,0,0.000 6.661 60 chr16 66957568 66957568 A G exonic RRAD nonsynonymous SNV RRAD:NM_001128850:exon4:c.T500C:p.I167T,RRAD:NM_004165:exon4:c.T500C:p.I167T Score=603;Name=lod=378 0 0.997867 C 1.0 D 0.993 D 1.0 D 0.999995 D 4.76 126 18 0.125 151 0 0.000 1.38742147558663628e-06 0.278 --- 128,112,16,0.125 126,126,0,0.000 4.730 8.131 chr16 67235932 67235932 T C exonic ELMO3 nonsynonymous SNV ELMO3:NM_024712:exon12:c.T1262C:p.L421P Score=544;Name=lod=217 0 0.998193 C 0.956728 NA 0.989 D 1.0 D 0.999998 D 5.41 192 26 0.119 191 0 0.000 7.10214986905223515e-08 0.423 --- 209,185,23,0.111 188,188,0,0.000 6.662 13.378 chr16 67315967 67315967 C G exonic PLEKHG4 nonsynonymous SNV PLEKHG4:NM_001129731:exon6:c.C818G:p.A273G,PLEKHG4:NM_015432:exon7:c.C1061G:p.A354G,PLEKHG4:NM_001129728:exon8:c.C1061G:p.A354G,PLEKHG4:NM_001129729:exon8:c.C1061G:p.A354G,PLEKHG4:NM_001129727:exon9:c.C1061G:p.A354G Score=412;Name=lod=63 0.07 0.971948 C 0.93 T 0.45 P 0.853069 NA 0.03731 N 3.72 80 17 0.175 106 0 0.000 1.58546817948631674e-06 0.647 --- 84,69,15,0.179 89,89,0,0.000 5.012 9.633 chr16 67323571 67323571 G A exonic KCTD19 synonymous SNV KCTD19:NM_001100915:exon16:c.C2682T:p.F894F Score=485;Name=lod=125 0.000082 56 9 0.138 53 0 0.000 0.00407102912878949729 0.111 --- 53,44,8,0.154 45,45,0,0.000 2.174 5.027 chr16 67333353 67333353 G A exonic KCTD19 nonsynonymous SNV KCTD19:NM_001100915:exon6:c.C899T:p.S300F Score=485;Name=lod=125 0.999799 C 1.0 D 0.995 D 0.999995 D 0.337578 N 5.72 172 21 0.109 186 0 0.000 5.7364749870289752e-07 0.524 --- 161,143,18,0.112 152,152,0,0.000 5.284 11.598 chr16 68056367 68056367 T G exonic DDX28 synonymous SNV DDX28:NM_018380:exon1:c.A739C:p.R247R 186 22 0.106 211 0 0.000 1.12841604677288403e-07 0.545 --- 182,162,20,0.110 182,181,0,0.000 5.959 9.556 chr16 68309008 68309008 C T exonic SLC7A6 nonsynonymous SNV SLC7A6:NM_003983:exon3:c.C379T:p.R127C,SLC7A6:NM_001076785:exon4:c.C379T:p.R127C Score=707;Name=lod=996 0.04 0.999054 C 0.94 T 1.0 D 1.0 D 0.99916 D 5.41 153 36 0.190 172 0 0.000 1.34396443640822539e-11 0.389 --- 168,135,33,0.196 155,155,0,0.000 10.074 60 chr16 68309050 68309050 G A exonic SLC7A6 nonsynonymous SNV SLC7A6:NM_003983:exon3:c.G421A:p.A141T,SLC7A6:NM_001076785:exon4:c.G421A:p.A141T Score=707;Name=lod=996 0.04 0.999698 C 0.98 D 0.997 D 1.0 D 0.994927 D 5.41 134 16 0.107 172 0 0.000 3.13483560368831586e-06 0.312 --- 137,122,15,0.109 148,148,0,0.000 4.954 7.791 chr16 68405626 68405626 C G exonic SMPD3 nonsynonymous SNV SMPD3:NM_018667:exon3:c.G459C:p.E153D Score=405;Name=lod=59 0.14 0.980003 C 0.85 T 0.868 D 1.0 D 0.987182 D 3.03 216 67 0.237 288 0 0.000 4.27421022902056204e-23 0.463 --- 253,191,60,0.239 253,253,0,0.000 19.914 60 chr16 69689701 69689701 G A exonic NFAT5 nonsynonymous SNV NFAT5:NM_006599:exon5:c.G1141A:p.A381T,NFAT5:NM_001113178:exon6:c.G1195A:p.A399T,NFAT5:NM_138713:exon6:c.G1195A:p.A399T,NFAT5:NM_173214:exon6:c.G913A:p.A305T,NFAT5:NM_173215:exon6:c.G913A:p.A305T,NFAT5:NM_138714:exon7:c.G913A:p.A305T Score=698;Name=lod=914 0.25 0.999618 C 0.75 T 0.649724 NA 1.0 D 0.999856 D 5.23 95 21 0.181 87 0 0.000 5.91540629776993057e-06 0.381 --- 96,81,15,0.156 80,80,0,0.000 4.162 12.011 chr16 70503148 70503148 G A exonic FUK nonsynonymous SNV FUK:NM_145059:exon10:c.G877A:p.D293N 0.25 0.999661 C 0.42 T 0.01 B 0.99919 N 0.100794 N 5.32 132 16 0.108 127 0 0.000 3.582926262859372e-05 0.625 --- 119,105,14,0.118 103,103,0,0.000 3.907 6.236 chr16 72827863 72827863 A T exonic ZFHX3 stopgain ZFHX3:NM_001164766:exon8:c.T5976A:p.Y1992X,ZFHX3:NM_006885:exon9:c.T8718A:p.Y2906X Score=555;Name=lod=241 0.943249 N 0.899338 NA 0.726195 NA 0.999822 D 1.0 A 3.72 224 61 0.214 359 0 0.000 4.65756477730630934e-24 0.525 --- 246,195,51,0.207 305,304,0,0.000 19.205 14.955 chr16 72828477 72828477 G A exonic ZFHX3 nonsynonymous SNV ZFHX3:NM_001164766:exon8:c.C5362T:p.R1788W,ZFHX3:NM_006885:exon9:c.C8104T:p.R2702W Score=540;Name=lod=208 0.993662 C 0.902975 NA 0.733551 NA 0.999814 D 0.996851 D 4.19 282 66 0.190 319 0 0.000 9.90825994065991727e-21 0.439 --- 291,234,57,0.196 273,273,0,0.000 17.654 60 chr16 72984366 72984366 A T splicing ZFHX3 NM_006885:exon4:c.3216+2T>A,NM_001164766:exon3:c.474+2T>A Score=579;Name=lod=301 179 20 0.101 243 0 0.000 6.74853629074952385e-08 0.650 --- 171,155,16,0.094 211,211,0,0.000 5.761 4.629 chr16 72991865 72991865 C T exonic ZFHX3 nonsynonymous SNV ZFHX3:NM_006885:exon2:c.G2180A:p.R727H Score=679;Name=lod=769 0.000077 0.998764 C 0.93518 NA 0.886 D 0.999926 D 0.998997 D 5.16 239 71 0.229 367 0 0.000 6.1277884345794889e-27 0.437 --- 277,211,65,0.236 313,313,0,0.000 23.368 60 chr16 74664792 74664792 C G exonic RFWD3 nonsynonymous SNV RFWD3:NM_018124:exon10:c.G1641C:p.W547C Score=598;Name=lod=359 0 0.998878 C 0.98 D 1.0 D 1.0 D 0.999838 D 5.25 86 23 0.211 126 0 0.000 5.29544284271084407e-09 0.478 --- 93,74,18,0.196 100,100,0,0.000 6.167 7.039 chr16 74750489 74750489 G A exonic FA2H synonymous SNV FA2H:NM_024306:exon6:c.C795T:p.F265F Score=543;Name=lod=214 115 19 0.142 137 0 0.000 7.71674840659861948e-07 0.474 --- 108,91,17,0.157 111,111,0,0.000 5.520 8.807 chr16 74946175 74946175 T C exonic WDR59 nonsynonymous SNV WDR59:NM_030581:exon14:c.A1310G:p.Y437C Score=471;Name=lod=109 0 0.997725 C 1.0 D 0.999 D 1.0 D 0.791216 NA 5.17 163 21 0.114 200 0 0.000 1.03967492171639219e-07 0.429 --- 156,141,15,0.096 151,151,0,0.000 4.357 7.568 chr16 76572119 76572119 T C exonic CNTNAP4 synonymous SNV CNTNAP4:NM_138994:exon18:c.T2883C:p.D961D 88 21 0.193 122 0 0.000 4.5963137803535636e-08 0.571 --- 91,72,17,0.191 100,100,0,0.000 5.947 10.108 chr16 77334175 77334175 C T exonic ADAMTS18 nonsynonymous SNV ADAMTS18:NM_199355:exon17:c.G2659A:p.V887I Score=491;Name=lod=132 0.000154 0.02 0.983019 C 0.77 T 0.123 B 0.999956 D 0.023607 N 3.79 106 16 0.131 120 0 0.000 1.81270040455018725e-05 0.562 --- 103,89,14,0.136 96,96,0,0.000 4.073 6.401 chr16 81161418 81161418 G A exonic PKD1L2 unknown UNKNOWN 129 25 0.162 149 0 0.000 2.22601969946520654e-08 0.600 --- 134,113,21,0.157 121,121,0,0.000 6.178 9.208 chr16 81735368 81735368 A G exonic CMIP nonsynonymous SNV CMIP:NM_030629:exon16:c.A1577G:p.E526G,CMIP:NM_198390:exon16:c.A1859G:p.E620G Score=680;Name=lod=771 0.11 167 36 0.177 225 0 0.000 3.64359766613273693e-13 0.472 --- 172,142,30,0.174 175,175,0,0.000 9.751 15.051 chr16 84495677 84495677 G A exonic ATP2C2 synonymous SNV ATP2C2:NM_014861:exon26:c.G2664A:p.A888A 158 28 0.151 225 0 0.000 6.88347730863488863e-11 0.679 --- 150,128,22,0.147 182,182,0,0.000 7.985 8.204 chr16 84623711 84623711 C A exonic COTL1 nonsynonymous SNV COTL1:NM_021149:exon3:c.G318T:p.Q106H Score=407;Name=lod=60 0.02 0.976774 C 0.91 T 0.975 D 1.0 D 0.999736 D 3.87 109 28 0.204 121 0 0.000 8.72638088713469779e-09 0.643 --- 116,92,24,0.207 106,106,0,0.000 7.280 13.424 chr16 84690914 84690914 C T exonic KLHL36 synonymous SNV KLHL36:NM_024731:exon3:c.C501T:p.I167I Score=632;Name=lod=492 136 33 0.195 199 0 0.000 1.08718823615241163e-12 0.455 --- 142,111,31,0.218 176,176,0,0.000 11.734 60 chr16 84779063 84779063 G A exonic USP10 nonsynonymous SNV USP10:NM_005153:exon4:c.G976A:p.G326S,USP10:NM_001272075:exon5:c.G988A:p.G330S Score=0.966926;Name=chr22:16413836 0.001392 0.0014 rs111471007 1 290 36 0.110 319 0 0.000 1.12175256375150626e-11 0.528 --- 264,236,28,0.106 256,256,0,0.000 8.419 7.414 chr16 84884258 84884258 G A exonic CRISPLD2 nonsynonymous SNV CRISPLD2:NM_031476:exon5:c.G577A:p.A193T Score=439;Name=lod=81 0.08 0.999726 C 0.85 T 0.993 D 1.0 D 0.997884 D 5.16 85 17 0.167 88 0 0.000 1.38511852390974831e-05 0.529 --- 81,66,15,0.185 70,70,0,0.000 4.308 10.692 chr16 85100936 85100936 A G exonic KIAA0513 nonsynonymous SNV KIAA0513:NM_014732:exon2:c.A259G:p.T87A 1 0.93114 N 0.0 T 0.0 B 0.998777 N 8.04E-4 N 2.4 120 24 0.167 144 0 0.000 4.19311768832292581e-08 0.292 --- 132,107,25,0.189 128,128,0,0.000 7.742 13.77 chr16 85697107 85697107 C T exonic GSE1 nonsynonymous SNV GSE1:NM_001134473:exon10:c.C2219T:p.A740V,GSE1:NM_014615:exon11:c.C2531T:p.A844V 0.000154 rs149550163 0.01 0.902956 N 0.99 D 0.308 P 0.976797 N 0.002639 N 2.02 155 27 0.148 150 0 0.000 3.96158585746853618e-08 0.333 --- 157,134,23,0.146 129,129,0,0.000 6.233 60 chr16 86602407 86602407 G A exonic FOXC2 nonsynonymous SNV FOXC2:NM_005251:exon1:c.G1466A:p.R489H Score=584;Name=lod=316 0 0.999012 C 1.0 D 0.997 D 0.013959 U 0.765081 D 4.0 140 16 0.103 172 0 0.000 4.48479654642041919e-06 0.688 --- 128,111,16,0.126 140,140,0,0.000 5.392 9.433 chr16 87445344 87445344 C T exonic ZCCHC14 nonsynonymous SNV ZCCHC14:NM_015144:exon12:c.G2572A:p.G858R 0.0005 rs201336117 0.01 0.861014 N 0.94 T 0.04 B 0.630775 N 0.019509 N 1.97 296 69 0.189 368 0 0.000 3.605412730011098e-23 0.406 --- 301,247,53,0.177 314,313,0,0.000 17.565 15.654 chr16 88501959 88501959 G A exonic ZNF469 nonsynonymous SNV ZNF469:NM_001127464:exon2:c.G7997A:p.R2666H 0 208 44 0.175 227 0 0.000 1.04751352097532325e-13 0.500 --- 224,184,39,0.175 189,189,0,0.000 11.105 13.996 chr16 88925105 88925105 G A exonic TRAPPC2L nonsynonymous SNV TRAPPC2L:NM_016209:exon2:c.G112A:p.V38M Score=467;Name=lod=105 0 0.999505 C 1.0 D 0.651 P 1.0 D 0.999692 D 5.04 132 32 0.195 166 0 0.000 3.55159221529316717e-11 0.469 --- 128,103,25,0.195 134,134,0,0.000 8.354 60 chr16 89211673 89211673 A G splicing ACSF3 NM_001127214:exon8:c.1367-2A>G,NM_174917:exon9:c.1367-2A>G,NM_001243279:exon9:c.1367-2A>G Score=329;Name=lod=29 0.0082 0.15 205 39 0.160 267 0 0.000 5.39107858803441583e-14 0.513 --- 204,169,35,0.172 227,225,0,0.000 12.025 13.201 chr16 89264941 89264941 C T exonic SLC22A31 nonsynonymous SNV SLC22A31:NM_001242757:exon5:c.G292A:p.A98T 0.06 131 19 0.127 133 0 0.000 3.54345705868844431e-06 0.579 --- 134,118,16,0.119 120,120,0,0.000 4.577 11.912 chr16 89347061 89347061 G A exonic ANKRD11 synonymous SNV ANKRD11:NM_001256183:exon9:c.C5889T:p.I1963I,ANKRD11:NM_013275:exon9:c.C5889T:p.I1963I,ANKRD11:NM_001256182:exon10:c.C5889T:p.I1963I 243 57 0.190 292 1 0.003 2.92419039293673244e-17 0.491 0.000 258,209,48,0.187 259,257,1,0.004 14.096 60 chr16 89350278 89350278 T A exonic ANKRD11 nonsynonymous SNV ANKRD11:NM_001256183:exon9:c.A2672T:p.D891V,ANKRD11:NM_013275:exon9:c.A2672T:p.D891V,ANKRD11:NM_001256182:exon10:c.A2672T:p.D891V Score=456;Name=lod=95 0 0.997246 C 1.0 D 0.777 P 0.984278 N 0.0 N 4.97 187 37 0.165 242 0 0.000 3.15304724500104261e-13 0.541 --- 196,164,32,0.163 208,207,0,0.000 10.632 60 chr16 89627739 89627739 T C exonic;splicing RPL13;RPL13 NM_001243130:exon3:c.207+2T>C nonsynonymous SNV RPL13:NM_033251:exon2:c.T209C:p.V70A,RPL13:NM_000977:exon3:c.T209C:p.V70A,RPL13:NM_001243131:exon3:c.T209C:p.V70A Score=459;Name=lod=98 0.02 0.995982 C 0.93 T 0.221 P 1.0 U 0.996774 D 4.57 254 41 0.139 246 0 0.000 6.29377938344383495e-12 0.463 --- 232,200,32,0.138 200,200,0,0.000 9.000 7.423 chr16 89724660 89724660 G T exonic C16orf55 nonsynonymous SNV C16orf55:NM_001271907:exon2:c.G42T:p.E14D,C16orf55:NM_001271910:exon2:c.G42T:p.E14D,C16orf55:NM_153025:exon2:c.G39T:p.E13D 0 0.105189 N 1.0 D 0.08 B 0.589131 NA 0.002268 N -3.08 213 27 0.112 166 0 0.000 4.91537177020112192e-07 0.519 --- 211,186,25,0.118 149,149,0,0.000 5.772 8.121 chr16 89764034 89764034 G T exonic SPATA2L nonsynonymous SNV SPATA2L:NM_152339:exon3:c.C983A:p.S328Y 0.05 0.971623 C 0.98 D 0.0020 B 0.642022 N 0.02789 N 1.34 192 48 0.200 195 0 0.000 7.52692319858103009e-14 0.500 --- 209,164,44,0.212 166,166,0,0.000 11.942 60 chr16 89986222 89986222 G A exonic MC1R nonsynonymous SNV MC1R:NM_002386:exon1:c.G556A:p.V186M 0.14 233 58 0.199 254 0 0.000 1.24723012882991124e-17 0.362 --- 263,209,54,0.205 225,224,0,0.000 15.588 60 chr17 729204 729204 C A exonic NXN stopgain NXN:NM_001205319:exon2:c.G151T:p.E51X,NXN:NM_022463:exon2:c.G475T:p.E159X Score=482;Name=lod=121 0.77 0.999319 C 0.903814 NA 0.735448 NA 1.0 D 1.0 A 5.72 44 8 0.154 64 0 0.000 0.0011845400141304449 0.500 --- 38,32,6,0.158 48,48,0,0.000 2.231 5.627 chr17 900470 900470 C T exonic TIMM22 stopgain TIMM22:NM_013337:exon1:c.C88T:p.Q30X Score=439;Name=lod=81 0.11 0.998636 C 0.90376 NA 0.735325 NA 0.999939 D 1.0 A 5.07 169 31 0.155 213 0 0.000 4.71608442190502679e-11 0.710 --- 169,139,28,0.168 165,165,0,0.000 8.661 8.273 chr17 1370602 1370602 G A exonic MYO1C synonymous SNV MYO1C:NM_001080779:exon31:c.C3099T:p.G1033G,MYO1C:NM_001080950:exon31:c.C3042T:p.G1014G,MYO1C:NM_033375:exon31:c.C2994T:p.G998G Score=451;Name=lod=91 142 35 0.198 139 0 0.000 3.34768921758836424e-10 0.486 --- 144,116,28,0.194 116,116,0,0.000 7.729 7.041 chr17 1371153 1371153 C T exonic MYO1C nonsynonymous SNV MYO1C:NM_001080779:exon29:c.G2948A:p.R983H,MYO1C:NM_001080950:exon29:c.G2891A:p.R964H,MYO1C:NM_033375:exon29:c.G2843A:p.R948H Score=610;Name=lod=400 0.000077 rs148704738 0.56 0.998836 C 0.44 T 0.029 B 0.951441 N 0.031039 N 5.22 72 18 0.200 84 1 0.012 3.63152918611306153e-05 0.722 0.000 88,72,16,0.182 81,80,1,0.012 3.773 8.645 chr17 1371295 1371295 G A exonic MYO1C synonymous SNV MYO1C:NM_001080779:exon28:c.C2883T:p.Y961Y,MYO1C:NM_001080950:exon28:c.C2826T:p.Y942Y,MYO1C:NM_033375:exon28:c.C2778T:p.Y926Y 0.000077 rs140900113 200 34 0.145 170 0 0.000 3.50719466780239828e-09 0.588 --- 189,160,28,0.149 140,140,0,0.000 7.120 6.954 chr17 1538683 1538683 C T exonic SCARF1 nonsynonymous SNV SCARF1:NM_003693:exon11:c.G1862A:p.R621Q Score=412;Name=lod=63 0 0.997832 C 1.0 D 0.695 P 0.99941 N 0.001787 N 4.64 218 56 0.204 265 0 0.000 1.80549385907028067e-18 0.536 --- 241,192,49,0.203 227,227,0,0.000 15.254 14.875 chr17 1548893 1548893 G A exonic SCARF1 synonymous SNV SCARF1:NM_003693:exon1:c.C99T:p.S33S,SCARF1:NM_145350:exon1:c.C99T:p.S33S Score=349;Name=lod=35 229 68 0.229 260 0 0.000 5.42783355589907875e-21 0.485 --- 242,185,56,0.232 222,222,0,0.000 17.236 60 chr17 1961304 1961304 C T exonic HIC1 synonymous SNV HIC1:NM_001098202:exon2:c.C1377T:p.H459H,HIC1:NM_006497:exon2:c.C1320T:p.H440H Score=571;Name=lod=278 206 44 0.176 244 0 0.000 1.62763031640966419e-14 0.523 --- 230,186,44,0.191 216,216,0,0.000 13.593 10.883 chr17 1964860 1964860 G A exonic SMG6 nonsynonymous SNV SMG6:NM_001256828:exon11:c.C1462T:p.R488C,SMG6:NM_001256827:exon12:c.C1462T:p.R488C,SMG6:NM_017575:exon19:c.C4186T:p.R1396C Score=519;Name=lod=171 0.05 0.999414 C 1.0 D 0.492 P 0.999999 D 0.999874 D 4.4 97 19 0.164 137 0 0.000 1.54571208376477569e-07 0.368 --- 99,82,16,0.163 117,116,0,0.000 5.740 8.813 chr17 2226610 2226610 A G exonic SRR nonsynonymous SNV SRR:NM_021947:exon7:c.A775G:p.I259V Score=561;Name=lod=255 0.02 0.96816 C 0.686817 NA 0.0 B 0.99992 N 2.85E-4 N 3.48 130 21 0.139 112 0 0.000 7.56940789873852078e-06 0.143 --- 125,106,19,0.152 97,97,0,0.000 4.956 10.617 chr17 2607783 2607783 G T exonic CLUH nonsynonymous SNV CLUH:NM_015229:exon2:c.C62A:p.P21H 0.01 124 44 0.262 190 0 0.000 1.12424550754765425e-16 0.432 --- 140,104,36,0.257 151,151,0,0.000 12.603 60 chr17 3336741 3336741 T G exonic OR1E2 nonsynonymous SNV OR1E2:NM_003554:exon1:c.A395C:p.Y132S Score=405;Name=lod=59 0 0.5 N 1.0 D 0.44915 NA 0.715736 NA 2.0E-5 N 0.0 250 37 0.129 315 0 0.000 3.41640753969852376e-13 0.000 --- 290,243,47,0.162 256,256,0,0.000 13.699 7.069 chr17 3493308 3493308 G A exonic TRPV1 synonymous SNV TRPV1:NM_080706:exon5:c.C837T:p.S279S,TRPV1:NM_018727:exon6:c.C837T:p.S279S,TRPV1:NM_080705:exon6:c.C837T:p.S279S,TRPV1:NM_080704:exon7:c.C837T:p.S279S 207 61 0.228 287 0 0.000 9.62804008709531296e-22 0.443 --- 223,172,51,0.229 231,231,0,0.000 17.174 60 chr17 3627263 3627263 C T exonic GSG2 nonsynonymous SNV GSG2:NM_031965:exon1:c.C34T:p.L12F Score=358;Name=lod=38 0.02 0.998363 C 1.0 D 0.778 P 0.944402 N 0.039887 N 3.23 116 23 0.165 155 0 0.000 1.15888776983166371e-08 0.739 --- 125,100,25,0.200 140,140,0,0.000 8.769 8.723 chr17 3917732 3917732 G A exonic ZZEF1 synonymous SNV ZZEF1:NM_015113:exon50:c.C8223T:p.D2741D 0.000077 130 26 0.167 156 0 0.000 9.57071027096785916e-09 0.577 --- 123,99,23,0.189 119,119,0,0.000 7.106 12.504 chr17 4689618 4689618 C T exonic VMO1 synonymous SNV VMO1:NM_001144939:exon1:c.G30A:p.L10L,VMO1:NM_001144940:exon1:c.G30A:p.L10L,VMO1:NM_001144941:exon1:c.G30A:p.L10L,VMO1:NM_182566:exon1:c.G30A:p.L10L Score=358;Name=lod=38 144 44 0.234 178 0 0.000 1.23066916472198327e-14 0.273 --- 156,121,35,0.224 150,150,0,0.000 11.074 60 chr17 4725997 4725997 C T exonic PLD2 synonymous SNV PLD2:NM_001243108:exon25:c.C2607T:p.A869A,PLD2:NM_002663:exon25:c.C2640T:p.A880A 71 20 0.220 111 0 0.000 3.28548220037776872e-08 0.650 --- 76,59,17,0.224 90,90,0,0.000 6.240 13.593 chr17 4784542 4784542 A G exonic MINK1 nonsynonymous SNV MINK1:NM_001024937:exon4:c.A296G:p.D99G,MINK1:NM_015716:exon4:c.A296G:p.D99G,MINK1:NM_153827:exon4:c.A296G:p.D99G,MINK1:NM_170663:exon4:c.A296G:p.D99G Score=487;Name=lod=127 0.07 124 30 0.195 164 0 0.000 7.12199342948030499e-11 0.433 --- 135,107,28,0.207 140,138,0,0.000 9.249 10.258 chr17 4797386 4797386 C T exonic MINK1 nonsynonymous SNV MINK1:NM_015716:exon21:c.C2557T:p.R853C,MINK1:NM_001024937:exon22:c.C2608T:p.R870C,MINK1:NM_153827:exon22:c.C2668T:p.R890C,MINK1:NM_170663:exon22:c.C2581T:p.R861C Score=503;Name=lod=148 0 121 35 0.224 160 0 0.000 2.11539616728169356e-12 0.571 --- 130,98,31,0.240 137,137,0,0.000 10.659 60 chr17 4800098 4800098 G A exonic MINK1 nonsynonymous SNV MINK1:NM_015716:exon30:c.G3794A:p.R1265Q,MINK1:NM_001024937:exon31:c.G3845A:p.R1282Q,MINK1:NM_153827:exon31:c.G3905A:p.R1302Q,MINK1:NM_170663:exon31:c.G3818A:p.R1273Q Score=624;Name=lod=457 0 197 38 0.162 170 0 0.000 4.94488799460477071e-10 0.395 --- 190,157,33,0.174 155,154,0,0.000 8.895 9.395 chr17 4880449 4880449 G A exonic CAMTA2 nonsynonymous SNV CAMTA2:NM_001171166:exon10:c.C1810T:p.R604W,CAMTA2:NM_001171168:exon10:c.C1801T:p.R601W,CAMTA2:NM_001171167:exon11:c.C1873T:p.R625W,CAMTA2:NM_015099:exon11:c.C1804T:p.R602W 0.000077 rs148558630 0.02 0.999606 C 0.98 D 0.986 D 0.966026 N 0.519764 D 3.64 106 22 0.172 144 0 0.000 2.21465100977161414e-08 0.364 --- 108,89,18,0.168 118,118,0,0.000 6.165 7.884 chr17 4925595 4925595 G A exonic KIF1C nonsynonymous SNV KIF1C:NM_006612:exon22:c.G2219A:p.R740H Score=596;Name=lod=352 Score=0.91085;Name=chr18:12056127 0 0.982422 C 1.0 D 0.753 P 0.988029 NA 0.867466 D 2.69 202 46 0.185 217 0 0.000 3.44739289490225781e-14 0.543 --- 212,176,36,0.170 185,185,0,0.000 10.375 12.819 chr17 5085712 5085712 G A exonic ZNF594 nonsynonymous SNV ZNF594:NM_032530:exon2:c.C1840T:p.H614Y Score=0.925158;Name=chr17:5084393 0 0.944923 N 1.0 D 1.0 D 0.865813 NA 0.001099 N 0.621 143 16 0.101 176 0 0.000 4.37210295048132503e-06 0.750 --- 140,125,15,0.107 158,158,0,0.000 5.103 12.141 chr17 6351011 6351011 C T exonic FAM64A nonsynonymous SNV FAM64A:NM_001195228:exon3:c.C523T:p.R175W,FAM64A:NM_019013:exon3:c.C523T:p.R175W 0.01 0.187487 N 1.0 D 0.999 D 0.97305 N 0.276619 N -3.22 206 37 0.152 249 0 0.000 1.03015816879699097e-12 0.514 --- 200,169,31,0.155 202,202,0,0.000 9.949 9.867 chr17 6377871 6377871 G A exonic PITPNM3 nonsynonymous SNV PITPNM3:NM_001165966:exon9:c.C1031T:p.P344L,PITPNM3:NM_031220:exon10:c.C1139T:p.P380L ID=COSM1563696;OCCURENCE=1(large_intestine) 0.05 0.754546 N 0.9 T 0.09 B 0.937623 N 1.22E-4 N -2.77 162 28 0.147 245 0 0.000 2.53509521309399581e-11 0.321 --- 158,135,22,0.140 190,190,0,0.000 7.953 12.053 chr17 6899492 6899492 A G exonic ALOX12 nonsynonymous SNV ALOX12:NM_000697:exon1:c.A56G:p.Y19C 0.18 0.106652 N 0.82 T 0.0 B 0.680988 N 0.001587 N -0.829 154 42 0.214 250 0 0.000 6.4501899153352293e-17 0.619 --- 165,130,34,0.207 197,197,0,0.000 12.552 9.803 chr17 7005026 7005026 G A exonic ASGR2 synonymous SNV ASGR2:NM_080914:exon8:c.C747T:p.H249H,ASGR2:NM_001181:exon9:c.C804T:p.H268H,ASGR2:NM_001201352:exon9:c.C789T:p.H263H,ASGR2:NM_080912:exon9:c.C804T:p.H268H,ASGR2:NM_080913:exon9:c.C732T:p.H244H 138 29 0.174 204 0 0.000 2.0570842715709513e-11 0.448 --- 144,119,25,0.174 166,166,0,0.000 8.854 60 chr17 7094663 7094663 C T exonic DLG4 nonsynonymous SNV DLG4:NM_001128827:exon19:c.G1982A:p.R661Q,DLG4:NM_001365:exon21:c.G2120A:p.R707Q Score=642;Name=lod=542 0.13 92 13 0.124 110 0 0.000 6.00099621298138922e-05 0.308 --- 81,71,10,0.123 85,85,0,0.000 3.247 7.158 chr17 7330255 7330255 T C exonic C17orf74 synonymous SNV C17orf74:NM_175734:exon3:c.T945C:p.R315R 309 46 0.130 357 0 0.000 2.61575304213081699e-15 0.457 --- 309,271,38,0.123 302,302,0,0.000 11.627 60 chr17 7574018 7574018 G A exonic TP53 nonsynonymous SNV TP53:NM_001126115:exon6:c.C613T:p.R205C,TP53:NM_001276697:exon6:c.C532T:p.R178C,TP53:NM_001126118:exon9:c.C892T:p.R298C,TP53:NM_000546:exon10:c.C1009T:p.R337C,TP53:NM_001126112:exon10:c.C1009T:p.R337C,TP53:NM_001276760:exon10:c.C892T:p.R298C,TP53:NM_001276761:exon10:c.C892T:p.R298C Score=265;Name=lod=16 ID=COSM11071,COSM117591;OCCURENCE=1(ovary),3(breast),2(haematopoietic_and_lymphoid_tissue),1(kidney),1(peritoneum),1(liver),2(oesophagus),1(prostate),2(lung),2(large_intestine),4(central_nervous_system),1(endometrium) 0 0.892113 N 1.0 D 0.999 D 1.0 D 0.99997 D 1.88 54 8 0.129 82 0 0.000 0.000898731318851400014 0.375 --- 54,48,6,0.111 68,68,0,0.000 2.195 5.006 chr17 7577566 7577566 T C exonic TP53 nonsynonymous SNV TP53:NM_001126115:exon3:c.A319G:p.N107D,TP53:NM_001126116:exon3:c.A319G:p.N107D,TP53:NM_001126117:exon3:c.A319G:p.N107D,TP53:NM_001276697:exon3:c.A238G:p.N80D,TP53:NM_001276698:exon3:c.A238G:p.N80D,TP53:NM_001276699:exon3:c.A238G:p.N80D,TP53:NM_001126118:exon6:c.A598G:p.N200D,TP53:NM_000546:exon7:c.A715G:p.N239D,TP53:NM_001126112:exon7:c.A715G:p.N239D,TP53:NM_001126113:exon7:c.A715G:p.N239D,TP53:NM_001126114:exon7:c.A715G:p.N239D,TP53:NM_001276695:exon7:c.A598G:p.N200D,TP53:NM_001276696:exon7:c.A598G:p.N200D,TP53:NM_001276760:exon7:c.A598G:p.N200D,TP53:NM_001276761:exon7:c.A598G:p.N200D Score=536;Name=lod=201 ID=COSM10777,COSM984914,COSM984916,COSM984917;OCCURENCE=2(ovary),2(breast),1(stomach),10(haematopoietic_and_lymphoid_tissue),2(urinary_tract),1(liver),3(oesophagus),1(prostate),4(lung),1(upper_aerodigestive_tract),3(large_intestine),1(central_nervous_system),1(biliary_tract),2(endometrium) 0 0.997634 C 1.0 D 0.999 D 1.0 D 0.999902 D 4.04 54 7 0.115 68 0 0.000 0.00436491616822648783 0.429 --- 53,46,7,0.132 53,53,0,0.000 1.898 5.86 chr17 7678606 7678606 C T exonic DNAH2 synonymous SNV DNAH2:NM_020877:exon29:c.C4767T:p.G1589G Score=317;Name=lod=26 107 21 0.164 98 0 0.000 3.22283538133382704e-06 0.571 --- 107,90,17,0.159 83,83,0,0.000 4.406 7.437 chr17 7700555 7700555 G A exonic DNAH2 nonsynonymous SNV DNAH2:NM_020877:exon50:c.G7925A:p.R2642Q Score=507;Name=lod=153 0.14 0.999775 C 0.85 T 0.952 D 0.999995 D 0.931725 D 5.1 116 19 0.141 148 0 0.000 3.83371095586620886e-07 0.579 --- 117,98,17,0.148 118,118,0,0.000 5.494 9.768 chr17 8398460 8398460 T C exonic MYH10 nonsynonymous SNV MYH10:NM_005964:exon29:c.A3958G:p.T1320A,MYH10:NM_001256095:exon30:c.A3985G:p.T1329A,MYH10:NM_001256012:exon31:c.A4051G:p.T1351A Score=483;Name=lod=123 0.68 0.998095 C 0.33 T 0.0010 B 0.999995 D 0.930393 D 4.83 50 8 0.138 65 0 0.000 0.00186119696959428863 0.500 --- 44,38,6,0.136 48,48,0,0.000 2.004 7.703 chr17 10236392 10236392 G A exonic MYH13 nonsynonymous SNV MYH13:NM_003802:exon19:c.C2173T:p.R725W Score=468;Name=lod=106 0 71 11 0.134 108 0 0.000 6.44424873732484888e-05 0.364 --- 66,57,9,0.136 85,85,0,0.000 3.377 7.817 chr17 10267684 10267684 C A exonic MYH13 nonsynonymous SNV MYH13:NM_003802:exon3:c.G164T:p.R55M Score=519;Name=lod=171 0.02 112 22 0.164 140 0 0.000 5.61866788713743149e-08 0.636 --- 116,97,19,0.164 123,123,0,0.000 6.323 9.764 chr17 10415799 10415799 G T exonic MYH1 nonsynonymous SNV MYH1:NM_005963:exon12:c.C1073A:p.A358D Score=590;Name=lod=333 0 0.995908 C 1.0 D 0.19 P 0.999681 U 0.997756 D 4.73 140 18 0.114 188 0 0.000 4.27390620611628031e-07 0.500 --- 119,105,14,0.118 148,148,0,0.000 5.108 9.816 chr17 10428789 10428789 G A exonic MYH2 stopgain MYH2:NM_001100112:exon32:c.C4516T:p.R1506X,MYH2:NM_017534:exon32:c.C4516T:p.R1506X Score=593;Name=lod=344 ID=COSM84374;OCCURENCE=1(pancreas) 1 0.991271 C 0.903211 NA 0.733687 NA 0.997518 U 1.0 A 3.45 143 29 0.169 160 0 0.000 1.65544953538672158e-09 0.517 --- 152,130,22,0.145 141,141,0,0.000 6.546 10.106 chr17 10429144 10429144 C T exonic MYH2 nonsynonymous SNV MYH2:NM_001100112:exon31:c.G4237A:p.V1413M,MYH2:NM_017534:exon31:c.G4237A:p.V1413M Score=493;Name=lod=135 0.04 0.998306 C 0.96 D 0.0 B 0.9984 U 0.016917 N 4.34 185 27 0.127 190 0 0.000 1.41789366656743636e-08 0.407 --- 172,148,24,0.140 153,153,0,0.000 6.965 12.881 chr17 11461456 11461456 T G exonic SHISA6 synonymous SNV SHISA6:NM_001173461:exon4:c.T1338G:p.S446S,SHISA6:NM_001173462:exon5:c.T1434G:p.S478S,SHISA6:NM_207386:exon6:c.T1491G:p.S497S Score=616;Name=lod=424 310 41 0.117 358 0 0.000 8.65358971986344488e-14 0.463 --- 298,264,33,0.111 304,303,0,0.000 10.491 7.601 chr17 11650998 11650998 C T exonic DNAH9 synonymous SNV DNAH9:NM_001372:exon32:c.C6525T:p.P2175P Score=419;Name=lod=67 0.000077 115 23 0.167 136 0 0.000 8.84690643963139124e-08 0.435 --- 110,91,18,0.165 108,107,0,0.000 5.446 9.911 chr17 12642543 12642543 T C exonic MYOCD synonymous SNV MYOCD:NM_001146313:exon4:c.T327C:p.N109N,MYOCD:NM_001146312:exon7:c.T615C:p.N205N,MYOCD:NM_153604:exon7:c.T615C:p.N205N 109 21 0.162 146 0 0.000 5.38292123346545015e-08 0.714 --- 110,92,18,0.164 125,125,0,0.000 6.283 10.746 chr17 12656076 12656076 G A exonic MYOCD nonsynonymous SNV MYOCD:NM_001146313:exon7:c.G1183A:p.V395M,MYOCD:NM_001146312:exon10:c.G1471A:p.V491M,MYOCD:NM_153604:exon10:c.G1471A:p.V491M 0.000384 0.0005 rs149104165 0.05 0.966583 C 0.92 T 0.013 B 0.799457 N 0.001158 N 1.58 182 43 0.191 230 0 0.000 7.49911928756369566e-15 0.558 --- 195,155,40,0.205 194,192,0,0.000 12.692 60 chr17 12846926 12846926 T C exonic ARHGAP44 nonsynonymous SNV ARHGAP44:NM_014859:exon9:c.T673C:p.Y225H Score=525;Name=lod=182 0 89 18 0.168 83 0 0.000 1.95669101169332584e-05 0.611 --- 85,67,17,0.202 68,68,0,0.000 4.553 8.144 chr17 12883465 12883465 A T exonic ARHGAP44 synonymous SNV ARHGAP44:NM_014859:exon19:c.A1854T:p.P618P 163 41 0.201 184 0 0.000 6.46877562570288037e-13 0.659 --- 163,127,34,0.211 148,148,0,0.000 10.422 9.511 chr17 12909100 12909100 G A exonic ELAC2 synonymous SNV ELAC2:NM_001165962:exon9:c.C720T:p.D240D,ELAC2:NM_018127:exon10:c.C840T:p.D280D,ELAC2:NM_173717:exon10:c.C840T:p.D280D 0.000077 ID=COSM1380977;OCCURENCE=1(large_intestine) 105 17 0.139 152 0 0.000 5.48048101888441423e-07 0.765 --- 107,90,17,0.159 132,132,0,0.000 6.263 8.102 chr17 14248886 14248886 C T exonic HS3ST3B1 nonsynonymous SNV HS3ST3B1:NM_006041:exon2:c.C1096T:p.R366C Score=597;Name=lod=357 0.02 0.998735 C 0.97 D 0.973 D 0.999414 U 0.242556 N 4.81 153 33 0.177 214 0 0.000 2.01255482600542417e-12 0.576 --- 151,126,25,0.166 156,155,0,0.000 8.145 60 chr17 15212059 15212059 A G exonic TEKT3 nonsynonymous SNV TEKT3:NM_031898:exon8:c.T1178C:p.L393P Score=595;Name=lod=350 0 0.998715 C 1.0 D 0.974 D 1.0 D 0.999999 D 5.26 153 37 0.195 203 0 0.000 2.82387561443049267e-13 0.324 --- 158,127,31,0.196 171,170,0,0.000 10.567 7.264 chr17 16089895 16089895 A C exonic NCOR1 nonsynonymous SNV NCOR1:NM_001190440:exon2:c.T215G:p.L72R,NCOR1:NM_006311:exon3:c.T215G:p.L72R Score=579;Name=lod=300 0 0.975455 C 1.0 D 0.981 D 0.999999 D 0.99799 D 4.28 103 21 0.169 139 0 0.000 5.23824737815594682e-08 0.524 --- 101,87,14,0.139 111,111,0,0.000 4.728 8.13 chr17 16332193 16332193 A G exonic TRPV2 nonsynonymous SNV TRPV2:NM_016113:exon10:c.A1484G:p.Y495C Score=429;Name=lod=74 0 0.998344 C 0.939948 NA 0.909 D 1.0 D 0.998776 D 5.03 128 35 0.215 170 0 0.000 1.71611831322010189e-12 0.514 --- 133,108,25,0.188 146,146,0,0.000 8.609 9.453 chr17 16456639 16456639 C T exonic ZNF287 nonsynonymous SNV ZNF287:NM_020653:exon6:c.G817A:p.D273N 0.15 0.983969 C 0.13 T 0.293 P 0.912709 N 0.002631 N 3.52 81 14 0.147 107 0 0.000 1.50011667164607106e-05 0.214 --- 78,66,12,0.154 87,87,0,0.000 4.114 9.068 chr17 16667308 16667308 C T exonic CCDC144A nonsynonymous SNV CCDC144A:NM_014695:exon15:c.C3917T:p.T1306M Score=0.987638;Name=chr17:18405365 0.06 67 10 0.130 85 0 0.000 0.000424506030532635493 0.800 --- 63,54,9,0.143 72,72,0,0.000 3.121 11.423 chr17 17786095 17786095 G A exonic TOM1L2 nonsynonymous SNV TOM1L2:NM_001033551:exon5:c.C434T:p.P145L,TOM1L2:NM_001082968:exon6:c.C584T:p.P195L 0.000231 0.0005 rs138147144 0.02 0.998778 C 0.98 D 0.161 P 0.999983 D 0.999919 D 4.38 186 30 0.139 239 0 0.000 6.31466298133368073e-11 0.400 --- 169,145,23,0.137 183,183,0,0.000 7.725 9.284 chr17 18024867 18024867 C T exonic MYO15A nonsynonymous SNV MYO15A:NM_016239:exon2:c.C2753T:p.T918M 0 0.839687 N 1.0 D 0.996 D 0.8453 NA 0.060229 N 0.844 255 53 0.172 299 0 0.000 2.55357960560220412e-17 0.415 --- 246,201,45,0.183 218,218,0,0.000 13.245 11.569 chr17 18087695 18087695 T A exonic ALKBH5 synonymous SNV ALKBH5:NM_017758:exon1:c.T138A:p.A46A Score=393;Name=lod=53 170 39 0.187 227 0 0.000 4.59672101815592261e-14 0.590 --- 184,149,35,0.190 193,193,0,0.000 11.697 13.541 chr17 18137343 18137343 C T exonic LLGL1 nonsynonymous SNV LLGL1:NM_004140:exon6:c.C568T:p.R190C Score=470;Name=lod=108 0 0.984152 C 1.0 D 0.045 B 1.0 D 0.904918 D 2.99 175 42 0.194 185 0 0.000 7.7272560838751056e-13 0.381 --- 185,150,35,0.189 154,154,0,0.000 9.891 15.654 chr17 18140047 18140047 C T exonic LLGL1 synonymous SNV LLGL1:NM_004140:exon12:c.C1479T:p.A493A 140 26 0.157 188 0 0.000 9.11751595322451706e-10 0.500 --- 144,122,22,0.153 146,146,0,0.000 7.068 11.263 chr17 18181067 18181067 G A exonic TOP3A nonsynonymous SNV TOP3A:NM_004618:exon18:c.C2749T:p.R917C Score=531;Name=lod=192 ID=COSM273370;OCCURENCE=1(large_intestine) 0 0.999588 C 1.0 D 1.0 D 1.0 D 0.999999 D 5.18 182 42 0.188 230 0 0.000 1.51648856704065847e-14 0.429 --- 187,152,35,0.187 182,182,0,0.000 10.953 60 chr17 18832140 18832140 A G exonic PRPSAP2 nonsynonymous SNV PRPSAP2:NM_001243936:exon9:c.A701G:p.D234G,PRPSAP2:NM_001243941:exon9:c.A563G:p.D188G,PRPSAP2:NM_001243942:exon10:c.A563G:p.D188G,PRPSAP2:NM_002767:exon11:c.A821G:p.D274G Score=498;Name=lod=141 0.04 0.99848 C 0.55 T 0.125 B 1.0 D 0.999114 D 5.11 121 29 0.193 139 0 0.000 1.41136324827587106e-09 0.655 --- 126,103,23,0.183 109,109,0,0.000 6.404 60 chr17 19284751 19284751 G A exonic MAPK7 nonsynonymous SNV MAPK7:NM_139032:exon2:c.G812A:p.S271N,MAPK7:NM_002749:exon4:c.G1229A:p.S410N,MAPK7:NM_139033:exon4:c.G1229A:p.S410N,MAPK7:NM_139034:exon4:c.G1229A:p.S410N Score=389;Name=lod=51 rs201185415 0.22 0.999121 C 0.74 T 0.038 B 0.955772 N 0.215019 N 4.06 225 29 0.114 194 0 0.000 4.20829020336479979e-08 0.414 --- 209,183,26,0.124 162,162,0,0.000 6.581 11.787 chr17 19770669 19770669 G A exonic ULK2 nonsynonymous SNV ULK2:NM_001142610:exon1:c.C62T:p.A21V,ULK2:NM_014683:exon1:c.C62T:p.A21V Score=644;Name=lod=552 0 0.998795 C 1.0 D 0.997 D 0.999999 D 0.996244 D 4.36 92 12 0.115 122 0 0.000 6.27720675791460218e-05 0.583 --- 87,75,12,0.138 100,100,0,0.000 4.176 10.903 chr17 25932670 25932670 C T exonic KSR1 nonsynonymous SNV KSR1:NM_014238:exon15:c.C1480T:p.R494C Score=678;Name=lod=759 0 213 49 0.187 284 0 0.000 1.80527160696110767e-17 0.367 --- 229,187,41,0.180 243,242,0,0.000 13.764 13.198 chr17 25944332 25944332 G A exonic KSR1 synonymous SNV KSR1:NM_014238:exon20:c.G2160A:p.S720S 104 18 0.148 136 0 0.000 6.85747320063147078e-07 0.611 --- 108,92,15,0.140 113,113,0,0.000 4.930 9.272 chr17 26107856 26107856 C T exonic NOS2 nonsynonymous SNV NOS2:NM_000625:exon9:c.G941A:p.R314H rs201540655 0.06 0.019408 N 0.97 D 0.0 B 0.803951 N 0.0082 N -6.52 164 29 0.150 207 0 0.000 2.04588443339320213e-10 0.552 --- 167,142,25,0.150 172,171,0,0.000 8.081 15.955 chr17 27003268 27003268 G A exonic SUPT6H synonymous SNV SUPT6H:NM_003170:exon7:c.G717A:p.E239E Score=751;Name=lod=1510 167 32 0.161 174 1 0.006 1.06616623873801117e-08 0.656 1.000 160,130,30,0.188 142,141,1,0.007 7.506 60 chr17 27286192 27286192 T C exonic SEZ6 nonsynonymous SNV SEZ6:NM_001098635:exon10:c.A1958G:p.D653G,SEZ6:NM_178860:exon10:c.A1958G:p.D653G Score=632;Name=lod=492 0.12 216 26 0.107 252 0 0.000 4.24796683308250078e-09 0.423 --- 202,179,23,0.114 206,205,0,0.000 7.288 11.613 chr17 27869644 27869644 T C exonic TAOK1 synonymous SNV TAOK1:NM_025142:exon18:c.T2166C:p.R722R,TAOK1:NM_020791:exon20:c.T2610C:p.R870R Score=730;Name=lod=1236 146 29 0.166 183 0 0.000 2.65726781708826436e-10 0.862 --- 148,120,28,0.189 153,152,0,0.000 9.212 60 chr17 27939523 27939523 G A exonic ANKRD13B synonymous SNV ANKRD13B:NM_152345:exon12:c.G1362A:p.T454T Score=477;Name=lod=116 245 56 0.186 271 0 0.000 1.85845374178830242e-17 0.714 --- 269,216,53,0.197 240,240,0,0.000 15.809 60 chr17 28407796 28407796 C T exonic EFCAB5 nonsynonymous SNV EFCAB5:NM_198529:exon17:c.C3223T:p.P1075S Score=533;Name=lod=195 0 53 8 0.131 84 0 0.000 0.000739578898427436852 0.750 --- 54,47,7,0.130 70,70,0,0.000 2.628 4.296 chr17 29622708 29622708 G T exonic OMG synonymous SNV OMG:NM_002544:exon2:c.C642A:p.L214L Score=649;Name=lod=579 141 42 0.230 144 0 0.000 3.87389608868432589e-12 0.500 --- 156,124,32,0.205 122,122,0,0.000 8.629 60 chr17 29761092 29761092 C T exonic RAB11FIP4 synonymous SNV RAB11FIP4:NM_032932:exon3:c.C288T:p.S96S 87 19 0.179 102 0 0.000 1.66410382452948807e-06 0.579 --- 88,73,15,0.170 81,80,0,0.000 4.400 9.129 chr17 30529856 30529856 A G exonic RHOT1 synonymous SNV RHOT1:NM_001033566:exon15:c.A1269G:p.V423V,RHOT1:NM_001033568:exon15:c.A1269G:p.V423V,RHOT1:NM_018307:exon15:c.A1269G:p.V423V 58 8 0.121 96 0 0.000 0.000581877505988260902 0.625 --- 55,48,7,0.127 81,80,0,0.000 2.834 4.209 chr17 32906127 32906127 A G exonic C17orf102 nonsynonymous SNV C17orf102:NM_207454:exon1:c.T173C:p.V58A Score=369;Name=lod=42 0.862921 N 0.775269 NA 0.350123 NA 0.621033 N 0.001049 N 1.31 130 37 0.222 193 0 0.000 4.12397216028021121e-14 0.432 --- 154,121,31,0.204 182,182,0,0.000 11.403 60 chr17 33428245 33428245 G A exonic RAD51D nonsynonymous SNV RAD51D:NM_133629:exon6:c.C542T:p.A181V,RAD51D:NM_001142571:exon9:c.C938T:p.A313V,RAD51D:NM_002878:exon9:c.C878T:p.A293V 0.7 0.012022 N 0.0 T 0.0 NA 0.999547 N 0.049234 N -8.28 110 32 0.225 147 0 0.000 1.79884024043253719e-11 0.625 --- 121,95,25,0.208 122,122,0,0.000 8.227 12.854 chr17 33680886 33680886 A G exonic SLFN11 nonsynonymous SNV SLFN11:NM_152270:exon4:c.T1391C:p.I464T,SLFN11:NM_001104589:exon5:c.T1391C:p.I464T,SLFN11:NM_001104587:exon6:c.T1391C:p.I464T,SLFN11:NM_001104588:exon6:c.T1391C:p.I464T,SLFN11:NM_001104590:exon6:c.T1391C:p.I464T Score=0.899661;Name=chr17:33764832 0 0.920022 N 1.0 D 0.995 D 0.989466 N 0.048685 N 2.11 141 23 0.140 181 0 0.000 1.56423260175634508e-08 0.478 --- 137,117,20,0.146 154,154,0,0.000 6.886 10.943 chr17 34199458 34199458 G A exonic CCL5 stopgain CCL5:NM_002985:exon3:c.C199T:p.R67X Score=481;Name=lod=120 0.82 0.900007 N 0.895954 NA 0.718315 NA 0.995464 N 1.0 D 0.441 57 8 0.123 78 0 0.000 0.00142056715076539895 0.125 --- 58,50,8,0.138 60,59,0,0.000 2.551 3.504 chr17 35802719 35802719 C T exonic TADA2A nonsynonymous SNV TADA2A:NM_001166105:exon7:c.C497T:p.A166V,TADA2A:NM_001488:exon7:c.C497T:p.A166V,TADA2A:NM_133439:exon7:c.C497T:p.A166V Score=494;Name=lod=136 ID=COSM346218,COSM346219;OCCURENCE=1(lung) 0.02 0.99875 C 0.97 D 0.98 D 1.0 D 0.99991 D 5.16 89 13 0.127 112 0 0.000 4.27880317310289863e-05 0.462 --- 85,75,10,0.118 93,93,0,0.000 3.337 8.135 chr17 36485192 36485192 C T exonic GPR179 synonymous SNV GPR179:NM_001004334:exon11:c.G4260A:p.P1420P 141 37 0.208 187 0 0.000 3.40360774526474043e-13 0.459 --- 153,118,35,0.229 164,164,0,0.000 12.059 14.015 chr17 36490684 36490684 C T exonic GPR179 nonsynonymous SNV GPR179:NM_001004334:exon8:c.G1687A:p.A563T Score=583;Name=lod=312 0.01 0.964439 C 0.948145 NA 0.981 D 0.999997 D 0.913263 D 2.56 136 31 0.186 169 0 0.000 8.26691654503329019e-11 0.516 --- 140,113,27,0.193 136,136,0,0.000 8.401 12.674 chr17 36508158 36508158 G C exonic SOCS7 nonsynonymous SNV SOCS7:NM_014598:exon1:c.G31C:p.E11Q Score=458;Name=lod=97 0 0.960284 C 1.0 D 0.528696 NA 0.845946 NA 9.92E-4 N 1.76 125 32 0.204 130 0 0.000 8.83043701895747505e-10 0.688 --- 132,104,28,0.212 116,116,0,0.000 8.086 4.146 chr17 36623139 36623139 G A exonic ARHGAP23 synonymous SNV ARHGAP23:NM_001199417:exon7:c.G1215A:p.P405P 0.02 rs115941914 291 67 0.187 382 0 0.000 2.20951853849969921e-23 0.537 --- 299,242,56,0.188 304,304,0,0.000 18.353 11.841 chr17 37316912 37316912 G T exonic ARL5C nonsynonymous SNV ARL5C:NM_001143968:exon5:c.C423A:p.F141L 0.15 106 28 0.209 134 0 0.000 1.54207882058346365e-09 0.500 --- 107,85,22,0.206 105,105,0,0.000 6.838 13.875 chr17 37809865 37809865 C A exonic STARD3 synonymous SNV STARD3:NM_001165937:exon2:c.C81A:p.S27S,STARD3:NM_001165938:exon2:c.C81A:p.S27S,STARD3:NM_006804:exon2:c.C81A:p.S27S Score=450;Name=lod=90 239 28 0.105 258 0 0.000 3.92241061491894993e-09 0.607 --- 219,198,21,0.096 206,206,0,0.000 6.159 5.802 chr17 37883217 37883217 G A exonic ERBB2 synonymous SNV ERBB2:NM_004448:exon25:c.G3120A:p.G1040G,ERBB2:NM_001005862:exon28:c.G3030A:p.G1010G 120 23 0.161 159 0 0.000 1.24055827310932695e-08 0.435 --- 116,96,20,0.172 128,128,0,0.000 6.866 6.544 chr17 38420997 38420997 C A exonic WIPF2 nonsynonymous SNV WIPF2:NM_133264:exon5:c.C569A:p.P190H Score=436;Name=lod=79 0.01 0.998981 C 0.99 D 0.996 D 0.999633 D 0.999966 D 5.34 148 33 0.182 164 0 0.000 1.26842516382244886e-10 0.455 --- 165,133,32,0.194 150,150,0,0.000 9.662 12.402 chr17 38511527 38511527 T C exonic RARA nonsynonymous SNV RARA:NM_001145302:exon6:c.T734C:p.L245P,RARA:NM_001024809:exon7:c.T1010C:p.L337P,RARA:NM_000964:exon8:c.T1025C:p.L342P,RARA:NM_001145301:exon8:c.T1025C:p.L342P Score=539;Name=lod=207 0 0.998363 C 1.0 D 1.0 D 1.0 D 0.999576 D 5.0 212 33 0.135 231 0 0.000 1.1093810318780305e-10 0.818 --- 211,180,30,0.143 204,204,0,0.000 9.177 7.85 chr17 38568007 38568007 A G exonic TOP2A nonsynonymous SNV TOP2A:NM_001067:exon8:c.T853C:p.S285P Score=587;Name=lod=324 1 101 29 0.223 112 0 0.000 3.89154284383412917e-09 0.517 --- 103,81,22,0.214 88,87,0,0.000 6.167 11.014 chr17 38925223 38925223 G A exonic KRT26 synonymous SNV KRT26:NM_181539:exon6:c.C1095T:p.G365G Score=399;Name=lod=56 84 11 0.116 92 0 0.000 0.000726315282657965736 0.545 --- 81,70,11,0.136 72,72,0,0.000 3.090 6.324 chr17 39092582 39092582 C T exonic KRT23 nonsynonymous SNV KRT23:NM_015515:exon2:c.G274A:p.A92T 0.2 0.999018 C 0.55 T 0.221 P 0.999112 N 0.143818 N 4.4 191 41 0.177 238 0 0.000 3.77055575355526164e-14 0.732 --- 198,162,36,0.182 204,203,0,0.000 11.803 11.527 chr17 39262118 39262118 T C exonic KRTAP4-9 nonsynonymous SNV KRTAP4-9:NM_001146041:exon1:c.T478C:p.C160R Score=0.945624;Name=chr17:39237388 0 544 80 0.128 731 0 0.000 6.21862737094829773e-29 0.600 --- 526,452,73,0.139 590,590,0,0.000 25.114 7.294 chr17 39280249 39280249 C T exonic KRTAP4-12 synonymous SNV KRTAP4-12:NM_031854:exon1:c.G126A:p.V42V 605 68 0.101 756 0 0.000 8.80091915457689596e-24 0.529 --- 577,518,58,0.101 634,633,0,0.000 19.363 8.364 chr17 39406128 39406128 C T exonic KRTAP9-4 synonymous SNV KRTAP9-4:NM_033191:exon1:c.C156T:p.C52C 624 84 0.119 754 0 0.000 2.37298726397841714e-28 0.536 --- 643,563,77,0.120 639,637,0,0.000 23.930 4.811 chr17 39551128 39551128 G A exonic KRT31 nonsynonymous SNV KRT31:NM_002277:exon6:c.C1069T:p.R357W Score=333;Name=lod=30 0.000077 rs143943601 0 0.95225 C 1.0 D 0.054 B 0.999994 D 0.827126 D 2.56 249 55 0.181 397 0 0.000 5.3380235826024945e-22 0.709 --- 251,206,44,0.176 327,327,0,0.000 17.000 11.867 chr17 39985059 39985059 T C exonic NT5C3B nonsynonymous SNV NT5C3B:NM_052935:exon7:c.A550G:p.M184V Score=581;Name=lod=305 0 0.99825 C 0.98 D 1.0 D 1.0 D 0.996761 D 4.93 69 16 0.188 78 0 0.000 1.72870467312387013e-05 0.562 --- 76,61,13,0.176 74,72,0,0.000 3.859 13.447 chr17 40095404 40095404 A T exonic TTC25 unknown UNKNOWN Score=456;Name=lod=95 0.02 115 20 0.148 155 0 0.000 1.01593870663632857e-07 0.250 --- 110,93,17,0.155 126,125,1,0.008 4.722 6.663 chr17 40140770 40140770 G A exonic DNAJC7 nonsynonymous SNV DNAJC7:NM_001144766:exon8:c.C730T:p.R244W,DNAJC7:NM_003315:exon8:c.C898T:p.R300W Score=649;Name=lod=580 0 107 24 0.183 120 0 0.000 6.03647549049846376e-08 0.708 --- 111,89,22,0.198 104,104,0,0.000 6.722 60 chr17 40273256 40273256 C G exonic KAT2A nonsynonymous SNV KAT2A:NM_021078:exon1:c.G67C:p.A23P Score=650;Name=lod=585 0 0.969941 C 1.0 D 0.532799 NA 0.799272 N 0.051962 N 3.07 51 15 0.227 50 0 0.000 0.000120792310295478445 0.733 --- 73,56,17,0.233 55,53,2,0.036 2.694 3.001 chr17 40321513 40321513 G A exonic KCNH4 synonymous SNV KCNH4:NM_012285:exon9:c.C1572T:p.S524S Score=527;Name=lod=184 0.000231 0.0009 rs141918225 126 27 0.176 145 0 0.000 5.38443085582395536e-09 0.704 --- 123,101,22,0.179 118,118,0,0.000 6.729 13.236 chr17 40695143 40695143 G A exonic NAGLU synonymous SNV NAGLU:NM_000263:exon6:c.G1119A:p.V373V Score=325;Name=lod=28 223 40 0.152 251 0 0.000 5.39835686469101003e-13 0.525 --- 222,188,34,0.153 209,209,0,0.000 10.328 13.745 chr17 40825533 40825533 G A exonic PLEKHH3 nonsynonymous SNV PLEKHH3:NM_024927:exon5:c.C532T:p.R178C Score=374;Name=lod=44 0.000077 0.05 0.968741 C 0.84 T 1.0 D 0.99867 N 0.084027 N 2.53 234 50 0.176 258 0 0.000 1.302875348448243e-15 0.400 --- 247,201,46,0.186 227,226,0,0.000 13.714 60 chr17 40831967 40831967 G T exonic CCR10 synonymous SNV CCR10:NM_016602:exon2:c.C693A:p.G231G Score=489;Name=lod=130 203 24 0.106 177 0 0.000 5.93912023818613087e-07 0.458 --- 205,184,20,0.098 158,158,0,0.000 5.112 10.168 chr17 40996968 40996968 C A exonic AOC2 nonsynonymous SNV AOC2:NM_001158:exon1:c.C325A:p.L109M,AOC2:NM_009590:exon1:c.C325A:p.L109M Score=432;Name=lod=76 0 0.998953 C 1.0 D 0.972 D 0.999512 D 0.9296 D 4.79 231 44 0.160 239 0 0.000 2.09891915856309834e-13 0.500 --- 230,194,36,0.157 209,209,0,0.000 10.712 14.411 chr17 41003968 41003968 A G exonic AOC3 nonsynonymous SNV AOC3:NM_001277731:exon1:c.A608G:p.H203R,AOC3:NM_003734:exon1:c.A608G:p.H203R Score=0.941923;Name=chr17:41019399 ID=COSM374246;OCCURENCE=1(lung) rs630079 0.44 4.3E-5 N 0.45 T 0.0 B 0.002935 N 1.02E-4 N -7.11 198 28 0.124 254 0 0.000 2.69917111754808736e-10 0.429 --- 193,168,25,0.130 216,216,0,0.000 8.535 15.955 chr17 41142901 41142901 C T exonic RUNDC1 nonsynonymous SNV RUNDC1:NM_173079:exon5:c.C1010T:p.T337M Score=0.905185;Name=chr5:150760095 0.03 0.826232 N 0.97 D 0.995 D 0.931244 N 0.9112 D 0.877 89 15 0.144 128 0 0.000 3.26261719193735767e-06 0.600 --- 89,78,11,0.124 101,101,0,0.000 3.775 7.384 chr17 41958839 41958839 G A exonic MPP2 nonsynonymous SNV MPP2:NM_005374:exon7:c.C800T:p.A267V Score=498;Name=lod=141 0.6 0.999643 C 0.22 T 0.0 B 0.863436 NA 0.02421 N 4.75 182 38 0.173 203 0 0.000 3.13284187276874594e-12 0.500 --- 193,161,31,0.161 164,164,0,0.000 8.756 60 chr17 42266853 42266853 C A exonic TMUB2 nonsynonymous SNV TMUB2:NM_024107:exon2:c.C439A:p.L147I,TMUB2:NM_177441:exon2:c.C439A:p.L147I,TMUB2:NM_001076674:exon3:c.C499A:p.L167I 0.11 0.955232 C 0.57 T 0.0 B 0.641111 N 0.018801 N 2.46 142 45 0.241 150 0 0.000 3.68840281975134013e-13 0.444 --- 165,126,39,0.236 127,127,0,0.000 10.487 8.773 chr17 42979739 42979739 G T exonic CCDC103 nonsynonymous SNV CCDC103:NM_001258395:exon4:c.G283T:p.A95S,CCDC103:NM_001258396:exon4:c.G283T:p.A95S,CCDC103:NM_001258398:exon4:c.G284T:p.S95I,CCDC103:NM_001258399:exon4:c.G287T:p.S96I,CCDC103:NM_213607:exon4:c.G283T:p.A95S 0.9 0.003459 N 0.0 T 0.0 B 0.073499 N 3.0E-5 N -9.12 138 17 0.110 110 0 0.000 0.000132689201157570541 0.706 --- 134,120,14,0.104 100,100,0,0.000 3.412 9.962 chr17 43045197 43045197 G A exonic C1QL1 nonsynonymous SNV C1QL1:NM_006688:exon1:c.C220T:p.R74C Score=747;Name=lod=1453 0 0.997837 C 1.0 D 0.973 D 0.999918 D 0.999142 D 1.63 152 31 0.169 178 0 0.000 2.52282605437926775e-10 0.323 --- 157,131,26,0.166 156,156,0,0.000 8.016 6.303 chr17 43190906 43190906 C T exonic PLCD3 unknown UNKNOWN Score=489;Name=lod=129 205 37 0.153 221 0 0.000 9.27512391703083764e-12 0.459 --- 195,167,28,0.144 171,171,0,0.000 7.844 11.776 chr17 43195486 43195486 G A exonic PLCD3 unknown UNKNOWN Score=584;Name=lod=315 0 184 31 0.144 193 0 0.000 8.07666709798644581e-10 0.581 --- 188,160,28,0.149 162,162,0,0.000 7.839 10.68 chr17 43195775 43195775 G A exonic PLCD3 unknown UNKNOWN 0.09 181 30 0.142 227 0 0.000 9.66795832030352263e-11 0.467 --- 167,143,24,0.144 181,180,0,0.000 8.023 12.085 chr17 43198401 43198401 A G exonic PLCD3 unknown UNKNOWN Score=545;Name=lod=219 0.01 376 51 0.119 389 0 0.000 1.40105222606204778e-15 0.451 --- 347,308,37,0.107 321,320,0,0.000 10.949 8.869 chr17 43247115 43247115 G A exonic HEXIM2 nonsynonymous SNV HEXIM2:NM_144608:exon4:c.G800A:p.R267H Score=403;Name=lod=58 0.09 0.993705 C 0.76 T 0.999 D 0.999906 D 0.177458 N 3.9 136 39 0.223 157 0 0.000 2.19396953736963856e-12 0.513 --- 142,114,28,0.197 133,133,0,0.000 8.605 60 chr17 43363991 43363991 G T exonic MAP3K14 unknown UNKNOWN 0 237 28 0.106 254 0 0.000 4.12297168228237725e-09 0.464 --- 228,202,26,0.114 221,220,1,0.005 6.654 10.241 chr17 43474342 43474342 C T exonic ARHGAP27 nonsynonymous SNV ARHGAP27:NM_199282:exon11:c.G868A:p.G290R Score=289;Name=lod=20 0.13 0.901152 N 0.64 T 0.979 D 0.95359 N 0.68408 NA 1.81 197 41 0.172 209 0 0.000 1.19172782206520587e-12 0.537 --- 210,174,36,0.171 182,181,0,0.000 10.321 11.889 chr17 43910869 43910869 C T exonic CRHR1 nonsynonymous SNV CRHR1:NM_001145147:exon9:c.C775T:p.R259W,CRHR1:NM_001145148:exon10:c.C895T:p.R299W,CRHR1:NM_004382:exon10:c.C895T:p.R299W,CRHR1:NM_001145146:exon11:c.C982T:p.R328W,CRHR1:NM_001256299:exon12:c.C370T:p.R124W Score=653;Name=lod=600 0 0.998473 C 1.0 D 0.993 D 1.0 D 0.999992 D 4.97 85 32 0.274 142 0 0.000 6.18041426173323291e-13 0.625 --- 98,71,27,0.276 120,120,0,0.000 10.364 60 chr17 43912054 43912054 T C exonic CRHR1 nonsynonymous SNV CRHR1:NM_001145147:exon12:c.T1052C:p.V351A,CRHR1:NM_001145148:exon12:c.T1130C:p.V377A,CRHR1:NM_004382:exon13:c.T1172C:p.V391A,CRHR1:NM_001145146:exon14:c.T1259C:p.V420A,CRHR1:NM_001256299:exon15:c.T647C:p.V216A Score=548;Name=lod=225 0.03 0.997069 C 0.91 T 0.45 P 0.999993 D 0.980586 D 4.89 165 35 0.175 227 0 0.000 5.24511818877465358e-13 0.543 --- 162,134,27,0.168 189,188,0,0.000 9.627 15.353 chr17 44846033 44846033 C T exonic WNT3 nonsynonymous SNV WNT3:NM_030753:exon4:c.G721A:p.A241T Score=566;Name=lod=265 0 0.998706 C 1.0 D 0.997 D 1.0 D 0.999926 D 4.6 222 54 0.196 256 0 0.000 4.58850046614787512e-17 0.389 --- 242,192,50,0.207 216,215,0,0.000 14.923 14.492 chr17 45201273 45201273 G A exonic CDC27 synonymous SNV CDC27:NM_001114091:exon17:c.C2232T:p.L744L,CDC27:NM_001256:exon17:c.C2214T:p.L738L Score=649;Name=lod=577 44 7 0.137 50 0 0.000 0.0125386249965202706 0.571 --- 40,34,5,0.128 39,39,0,0.000 1.263 3.86 chr17 45821599 45821599 G A exonic TBX21 synonymous SNV TBX21:NM_013351:exon4:c.G807A:p.R269R Score=577;Name=lod=296 143 22 0.133 194 0 0.000 1.66525792021747745e-08 0.636 --- 136,119,16,0.119 153,153,0,0.000 5.482 8.294 chr17 45924731 45924731 G A exonic SP6 synonymous SNV SP6:NM_001258248:exon2:c.C1065T:p.G355G,SP6:NM_199262:exon2:c.C1065T:p.G355G 235 54 0.187 228 0 0.000 2.17106792243009433e-15 0.574 --- 245,195,50,0.204 189,188,0,0.000 13.207 7.701 chr17 46110642 46110642 T C exonic COPZ2 unknown UNKNOWN Score=536;Name=lod=201 0.08 34 7 0.171 38 0 0.000 0.0121094095777640081 0.429 --- 32,27,5,0.156 33,33,0,0.000 1.613 6.942 chr17 46628518 46628518 A G exonic HOXB3 synonymous SNV HOXB3:NM_002146:exon4:c.T474C:p.G158G Score=420;Name=lod=68 93 17 0.155 96 0 0.000 1.35002523156366583e-05 0.647 --- 114,94,15,0.138 98,93,0,0.000 4.194 3.529 chr17 47388811 47388811 T C exonic ZNF652 nonsynonymous SNV ZNF652:NM_001145365:exon5:c.A1172G:p.D391G,ZNF652:NM_014897:exon5:c.A1172G:p.D391G Score=728;Name=lod=1207 0.64 0.997916 C 0.15 T 0.047 B 1.0 D 0.999618 D 5.26 93 15 0.139 101 0 0.000 4.04667097845207969e-05 0.400 --- 84,73,11,0.131 84,84,0,0.000 3.162 6.807 chr17 47793546 47793546 G A exonic FAM117A nonsynonymous SNV FAM117A:NM_030802:exon7:c.C1042T:p.R348C Score=565;Name=lod=264 0 0.999776 C 1.0 D 0.999 D 0.999989 D 0.678071 D 5.12 79 11 0.122 90 0 0.000 0.000705813074244065228 0.273 --- 90,77,11,0.125 96,94,0,0.000 3.621 3.042 chr17 48068923 48068923 A G exonic DLX3 synonymous SNV DLX3:NM_005220:exon3:c.T822C:p.H274H Score=615;Name=lod=422 210 48 0.186 219 0 0.000 2.35130785036803984e-14 0.625 --- 230,189,39,0.171 197,194,0,0.000 11.116 10.981 chr17 49075879 49075879 G A exonic SPAG9 synonymous SNV SPAG9:NM_001251971:exon11:c.C1293T:p.S431S,SPAG9:NM_003971:exon14:c.C1722T:p.S574S,SPAG9:NM_001130527:exon15:c.C1734T:p.S578S,SPAG9:NM_001130528:exon15:c.C1764T:p.S588S 97 22 0.185 97 0 0.000 9.510286748970686e-07 0.545 --- 98,81,17,0.173 78,78,0,0.000 4.475 15.353 chr17 51900491 51900491 G A exonic KIF2B nonsynonymous SNV KIF2B:NM_032559:exon1:c.G97A:p.A33T Score=460;Name=lod=99 0.29 0.993066 C 0.49 T 0.078 B 0.894827 N 0.043083 N 2.65 145 21 0.127 197 0 0.000 3.52216748813191199e-08 0.667 --- 140,121,19,0.136 164,164,0,0.000 6.704 9.705 chr17 53471751 53471751 A G exonic MMD nonsynonymous SNV MMD:NM_012329:exon7:c.T661C:p.Y221H Score=692;Name=lod=866 0.01 0.985646 C 1.0 D 0.998 D 0.999999 D 0.999895 D 4.65 152 23 0.131 202 0 0.000 9.43630592871801609e-09 0.522 --- 142,122,20,0.141 162,162,0,0.000 6.944 8.294 chr17 55962895 55962895 C T exonic CUEDC1 nonsynonymous SNV CUEDC1:NM_001271875:exon2:c.G31A:p.G11S Score=527;Name=lod=184 0.52 0.927728 N 0.5 T 0.239 P 0.982348 N 0.031114 N 0.167 151 48 0.241 189 0 0.000 5.47476373658097539e-16 0.479 --- 174,133,40,0.231 164,164,0,0.000 12.627 8.372 chr17 56355218 56355218 G A exonic MPO nonsynonymous SNV MPO:NM_000250:exon7:c.C1174T:p.R392C Score=429;Name=lod=74 0.01 0.999372 C 0.95 T 0.996 D 0.999094 N 0.838223 D 4.33 222 51 0.187 331 0 0.000 1.54330940276965547e-19 0.608 --- 237,195,42,0.177 274,274,0,0.000 14.941 8.229 chr17 56440962 56440962 C A splicing RNF43 NM_017763:exon5:c.376-1G>T Score=470;Name=lod=108 76 15 0.165 109 0 0.000 3.74822156261581049e-06 0.200 --- 82,70,12,0.146 90,90,0,0.000 4.057 8.386 chr17 56620623 56620623 C T exonic C17orf47 nonsynonymous SNV C17orf47:NM_001038704:exon1:c.G925A:p.A309T 0.31 0.023441 N 0.69 T 0.0 B 0.647516 N 0.004289 N -9.29 150 43 0.223 194 0 0.000 7.24347992000686808e-15 0.465 --- 168,130,38,0.226 180,179,0,0.000 13.027 60 chr17 57043135 57043135 C A exonic PPM1E nonsynonymous SNV PPM1E:NM_014906:exon3:c.C664A:p.L222I Score=675;Name=lod=736 0.09 0.998916 C 0.94 T 0.549292 NA 0.999966 D 0.092815 N 5.28 142 44 0.237 212 0 0.000 1.35293895066006021e-16 0.455 --- 148,114,34,0.230 158,158,0,0.000 11.685 13.475 chr17 57047090 57047090 T C splicing PPM1E NM_014906:exon4:c.972+2T>C Score=550;Name=lod=229 98 12 0.109 121 0 0.000 9.75891228980138513e-05 0.250 --- 90,80,10,0.111 98,98,0,0.000 3.319 7.648 chr17 58136792 58136792 G A exonic HEATR6 nonsynonymous SNV HEATR6:NM_022070:exon11:c.C1714T:p.R572C Score=651;Name=lod=592 0 0.994965 C 0.98 D 0.054 B 0.999996 D 0.998512 D 4.19 62 12 0.162 59 0 0.000 0.00114115079454537835 0.500 --- 58,51,7,0.121 50,50,0,0.000 1.843 5.151 chr17 58234033 58234033 C T exonic CA4 synonymous SNV CA4:NM_000717:exon3:c.C225T:p.Y75Y 0.003460 0.0014 rs146160539 85 24 0.220 107 0 0.000 2.91707220020678959e-08 0.458 --- 96,75,20,0.211 88,88,0,0.000 6.090 10.773 chr17 58234834 58234834 G A exonic CA4 synonymous SNV CA4:NM_000717:exon4:c.G315A:p.L105L 112 15 0.118 153 0 0.000 4.38397189329184155e-06 0.600 --- 106,95,11,0.104 121,121,0,0.000 3.764 10.955 chr17 59482580 59482580 G A exonic TBX2 nonsynonymous SNV TBX2:NM_005994:exon6:c.G1069A:p.A357T Score=381;Name=lod=47 0.56 0.982583 C 0.44 T 0.52 P 0.957544 N 0.038789 N 3.36 226 49 0.178 291 0 0.000 3.90320168810110244e-17 0.612 --- 235,191,43,0.184 245,245,0,0.000 14.322 12.62 chr17 59482756 59482756 C G exonic TBX2 synonymous SNV TBX2:NM_005994:exon6:c.C1245G:p.G415G 293 91 0.237 345 0 0.000 1.66097556463657706e-28 0.538 --- 334,259,75,0.225 301,301,0,0.000 22.597 6.216 chr17 59534018 59534018 C T exonic TBX4 nonsynonymous SNV TBX4:NM_018488:exon1:c.C167T:p.A56V Score=289;Name=lod=20 0.19 0.802771 N 0.72 T 0.0 B 0.230769 N 0.022023 N -2.06 76 16 0.174 108 0 0.000 1.86398045276029494e-06 0.562 --- 75,60,14,0.189 87,87,0,0.000 5.044 3.136 chr17 60062374 60062374 C T exonic MED13 synonymous SNV MED13:NM_005121:exon13:c.G2463A:p.P821P Score=613;Name=lod=413 84 19 0.184 122 0 0.000 1.32865313524347374e-07 0.421 --- 81,67,14,0.173 93,93,0,0.000 4.933 12.51 chr17 61898949 61898949 C T exonic FTSJ3 nonsynonymous SNV FTSJ3:NM_017647:exon16:c.G1651A:p.A551T Score=443;Name=lod=84 ID=COSM1385191;OCCURENCE=1(large_intestine) 0.16 0.998986 C 0.33 T 0.28 P 0.999007 N 0.075181 N 4.82 161 28 0.148 213 0 0.000 2.12097235148918241e-10 0.643 --- 166,143,23,0.139 180,180,0,0.000 7.706 14.875 chr17 62025364 62025364 G A exonic SCN4A synonymous SNV SCN4A:NM_000334:exon17:c.C3204T:p.A1068A 84 17 0.168 109 0 0.000 1.84136625617767017e-06 0.353 --- 83,68,15,0.181 89,89,0,0.000 5.058 10.485 chr17 62082605 62082605 G T exonic ICAM2 nonsynonymous SNV ICAM2:NM_000873:exon2:c.C190A:p.L64I,ICAM2:NM_001099787:exon3:c.C190A:p.L64I,ICAM2:NM_001099789:exon3:c.C190A:p.L64I,ICAM2:NM_001099786:exon4:c.C190A:p.L64I,ICAM2:NM_001099788:exon4:c.C190A:p.L64I 0.12 0.241529 N 0.88 T 0.037 B 0.261757 N 0.027151 N -5.45 125 14 0.101 164 0 0.000 1.26015032441684049e-05 0.429 --- 122,111,11,0.090 127,127,0,0.000 3.513 9.43 chr17 62135256 62135256 G A exonic ERN1 nonsynonymous SNV ERN1:NM_001433:exon12:c.C1304T:p.A435V Score=393;Name=lod=53 0.0005 rs201598988 0.3 174 23 0.117 194 0 0.000 1.21960770698385458e-07 0.522 --- 152,136,16,0.105 149,149,0,0.000 4.692 6.59 chr17 62289984 62289984 G A exonic TEX2 stopgain TEX2:NM_018469:exon2:c.C1594T:p.R532X Score=343;Name=lod=33 1 0.999804 C 0.904095 NA 0.732878 NA 0.984966 N 1.0 A 4.77 103 29 0.220 142 0 0.000 1.05943858264011362e-10 0.655 --- 115,93,22,0.191 125,125,0,0.000 7.531 9.458 chr17 62856109 62856109 G T exonic LRRC37A3 nonsynonymous SNV LRRC37A3:NM_199340:exon11:c.C4155A:p.N1385K Score=0.988517;Name=chr17:44568396 1 0.079245 N 0.0 T 0.889 D 0.665263 NA 0.023241 N -2.2 239 31 0.115 262 0 0.000 4.12624492271522913e-10 0.452 --- 246,219,27,0.110 229,229,0,0.000 7.979 7.773 chr17 63554606 63554606 C T exonic AXIN2 nonsynonymous SNV AXIN2:NM_004655:exon2:c.G133A:p.V45I 0.23 0.945928 N 0.94 T 0.0040 B 0.671604 N 1.0 D 1.91 260 33 0.113 280 0 0.000 1.15600340388481429e-10 0.303 --- 247,216,30,0.122 230,230,0,0.000 8.948 14.364 chr17 66871786 66871786 G A exonic ABCA8 stopgain ABCA8:NM_007168:exon34:c.C4339T:p.R1447X Score=426;Name=lod=72 rs200550454 1 0.999359 C 0.903851 NA 0.735085 NA 0.997903 N 1.0 A 4.31 157 33 0.174 205 0 0.000 6.69945601917613065e-12 0.545 --- 152,127,25,0.164 163,162,0,0.000 8.358 11.85 chr17 66928435 66928435 G A exonic ABCA8 nonsynonymous SNV ABCA8:NM_007168:exon6:c.C791T:p.A264V 0 0.99966 C 1.0 D 0.991 D 0.999948 D 0.998703 D 4.8 63 19 0.232 109 0 0.000 2.76804420459082419e-08 0.789 --- 68,51,16,0.239 88,88,0,0.000 6.326 14.477 chr17 70119841 70119841 C T exonic SOX9 synonymous SNV SOX9:NM_000346:exon3:c.C843T:p.D281D Score=662;Name=lod=655 162 39 0.194 222 0 0.000 2.93759037077999956e-14 0.436 --- 173,139,34,0.197 190,190,0,0.000 11.760 60 chr17 71346425 71346425 G A exonic SDK2 nonsynonymous SNV SDK2:NM_001144952:exon43:c.C5989T:p.R1997W Score=609;Name=lod=399 0.000077 0 151 30 0.166 152 0 0.000 3.92706067228381103e-09 0.567 --- 151,124,26,0.173 115,114,0,0.000 6.702 14.423 chr17 72764315 72764315 A C exonic SLC9A3R1 synonymous SNV SLC9A3R1:NM_004252:exon5:c.A828C:p.A276A 53 10 0.159 70 0 0.000 0.000378762345454336268 0.600 --- 52,43,9,0.173 57,57,0,0.000 3.064 9.929 chr17 73261954 73261954 C T exonic MRPS7 nonsynonymous SNV MRPS7:NM_015971:exon5:c.C679T:p.H227Y Score=487;Name=lod=127 0.999308 C 1.0 D 0.977 D 1.0 D 0.999978 D 5.71 160 46 0.223 171 0 0.000 7.40109037053819616e-14 0.370 --- 167,130,37,0.222 140,140,0,0.000 10.370 10.916 chr17 73274372 73274372 G A exonic SLC25A19 synonymous SNV SLC25A19:NM_001126122:exon5:c.C504T:p.S168S,SLC25A19:NM_001126121:exon6:c.C504T:p.S168S,SLC25A19:NM_021734:exon6:c.C504T:p.S168S 0.000077 rs148474667 99 29 0.227 134 2 0.015 2.66613104317028693e-08 0.345 0.500 112,88,23,0.207 106,105,1,0.009 5.983 11.392 chr17 73627554 73627554 C T exonic RECQL5 nonsynonymous SNV RECQL5:NM_004259:exon9:c.G1424A:p.R475H Score=431;Name=lod=75 0 0.999245 C 1.0 D 0.999 D 0.999962 D 0.999321 D 5.62 118 34 0.224 134 0 0.000 9.19059200586512446e-11 0.706 --- 132,102,30,0.227 122,122,0,0.000 9.276 15.955 chr17 73727379 73727379 G A exonic ITGB4 nonsynonymous SNV ITGB4:NM_001005619:exon9:c.G1145A:p.R382Q,ITGB4:NM_000213:exon10:c.G1145A:p.R382Q,ITGB4:NM_001005731:exon10:c.G1145A:p.R382Q Score=401;Name=lod=57 ID=COSM1386023;OCCURENCE=1(large_intestine) 0.15 0.927728 N 0.85 T 0.322 P 0.984969 N 0.074165 N 1.16 108 32 0.229 129 0 0.000 1.28973747613701859e-10 0.531 --- 120,92,28,0.233 115,115,0,0.000 8.832 9.347 chr17 73750767 73750767 G A exonic ITGB4 nonsynonymous SNV ITGB4:NM_001005619:exon32:c.G4219A:p.V1407M,ITGB4:NM_001005731:exon33:c.G4219A:p.V1407M,ITGB4:NM_000213:exon34:c.G4429A:p.V1477M Score=251;Name=lod=14 0.06 0.80458 N 0.94 T 0.0020 B 0.358247 N 9.0E-6 N -1.11 213 33 0.134 209 1 0.005 9.42894482398877281e-09 0.455 0.000 209,177,32,0.153 178,177,1,0.006 7.804 13.31 chr17 73753292 73753292 C T exonic ITGB4 stopgain ITGB4:NM_001005619:exon38:c.C5179T:p.Q1727X,ITGB4:NM_001005731:exon38:c.C5020T:p.Q1674X,ITGB4:NM_000213:exon39:c.C5230T:p.Q1744X Score=393;Name=lod=53 0 0.965883 C 0.901143 NA 0.729948 NA 0.999993 D 1.0 A 1.25 156 21 0.119 174 0 0.000 5.13732572282566851e-07 0.619 --- 158,139,19,0.120 151,151,0,0.000 5.633 12.714 chr17 74003982 74003982 G A exonic EVPL synonymous SNV EVPL:NM_001988:exon22:c.C5304T:p.D1768D 143 45 0.239 193 0 0.000 7.55568727683052599e-16 0.711 --- 165,128,37,0.224 175,175,0,0.000 12.634 60 chr17 74133513 74133513 G A exonic FOXJ1 nonsynonymous SNV FOXJ1:NM_001454:exon3:c.C1187T:p.P396L Score=417;Name=lod=66 1 0.99931 C 0.0 T 0.836 P 0.99868 N 0.130371 N 4.8 137 17 0.110 167 0 0.000 2.32535262020636518e-06 0.588 --- 132,119,13,0.098 135,135,0,0.000 4.113 5.208 chr17 74274216 74274216 G A exonic QRICH2 synonymous SNV QRICH2:NM_032134:exon15:c.C4473T:p.S1491S Score=371;Name=lod=43 160 43 0.212 215 0 0.000 2.51544961610812463e-15 0.419 --- 173,138,35,0.202 181,181,0,0.000 11.733 13.649 chr17 74287477 74287477 G A exonic QRICH2 nonsynonymous SNV QRICH2:NM_032134:exon4:c.C2833T:p.P945S 0.5 0.930342 N 1.0 D 0.981 D 0.860825 NA 9.11E-4 N 1.74 101 24 0.192 119 0 0.000 4.11898656434584069e-08 0.458 --- 113,92,21,0.186 105,105,0,0.000 6.349 13.123 chr17 74383379 74383379 C T exonic SPHK1 synonymous SNV SPHK1:NM_001142602:exon5:c.C867T:p.Y289Y,SPHK1:NM_001142601:exon6:c.C867T:p.Y289Y,SPHK1:NM_021972:exon6:c.C909T:p.Y303Y,SPHK1:NM_182965:exon6:c.C1125T:p.Y375Y Score=437;Name=lod=80 0.000077 rs140442285 186 33 0.151 238 0 0.000 7.38653136644047216e-12 0.545 --- 196,166,30,0.153 192,192,0,0.000 9.234 15.477 chr17 74387992 74387992 T G exonic UBE2O nonsynonymous SNV UBE2O:NM_022066:exon16:c.A3149C:p.K1050T Score=560;Name=lod=252 0.02 0.997208 C 0.899986 NA 0.726347 NA 1.0 D 0.970467 D 4.96 125 28 0.183 126 0 0.000 1.59454682499823665e-08 0.429 --- 137,114,22,0.162 117,115,0,0.000 6.025 14.54 chr17 74471178 74471178 C T exonic RHBDF2 synonymous SNV RHBDF2:NM_001005498:exon9:c.G1161A:p.T387T,RHBDF2:NM_024599:exon10:c.G1248A:p.T416T 92 16 0.148 94 0 0.000 2.78012340717982893e-05 0.375 --- 89,74,15,0.169 75,75,0,0.000 4.213 13.334 chr17 74714811 74714811 T C exonic JMJD6 stoploss JMJD6:NM_015167:exon6:c.A1212G:p.X404W Score=616;Name=lod=424 0.998511 C 0.862275 NA 0.627838 NA 0.961613 NA 0.660239 NA 5.62 197 27 0.121 199 0 0.000 1.65460079141998029e-08 0.481 --- 193,169,24,0.124 170,170,0,0.000 6.878 11.34 chr17 74774309 74774309 C A exonic MFSD11 nonsynonymous SNV MFSD11:NM_001242536:exon12:c.C1069A:p.L357I,MFSD11:NM_001242537:exon12:c.C1069A:p.L357I,MFSD11:NM_001242532:exon13:c.C1225A:p.L409I,MFSD11:NM_001242533:exon14:c.C1225A:p.L409I,MFSD11:NM_001242534:exon14:c.C1225A:p.L409I,MFSD11:NM_001242535:exon14:c.C1225A:p.L409I,MFSD11:NM_024311:exon14:c.C1225A:p.L409I Score=600;Name=lod=367 0.12 0.999324 C 0.83 T 0.015 B 1.0 D 0.933803 D 5.72 94 16 0.145 112 0 0.000 7.29979050264335883e-06 0.625 --- 85,73,12,0.141 89,89,0,0.000 3.919 10.265 chr17 76046689 76046689 G A exonic TNRC6C nonsynonymous SNV TNRC6C:NM_001142640:exon4:c.G1546A:p.A516T,TNRC6C:NM_018996:exon4:c.G1546A:p.A516T Score=378;Name=lod=46 1 265 63 0.192 342 0 0.000 9.92503669710404596e-22 0.587 --- 288,232,55,0.192 288,288,0,0.000 17.844 60 chr17 76063923 76063923 C T exonic TNRC6C synonymous SNV TNRC6C:NM_001142640:exon6:c.C2688T:p.D896D,TNRC6C:NM_018996:exon6:c.C2697T:p.D899D Score=528;Name=lod=186 0.000326 132 32 0.195 156 0 0.000 1.16844953988807175e-10 0.469 --- 141,112,29,0.206 127,126,0,0.000 8.690 7.965 chr17 76136954 76136954 C T exonic TMC8 stopgain TMC8:NM_152468:exon16:c.C1942T:p.R648X Score=487;Name=lod=127 1 0.905383 N 0.898869 NA 0.692037 NA 0.841323 N 1.0 D 2.43 201 23 0.103 176 0 0.000 1.04810608632248053e-06 0.609 --- 189,168,21,0.111 146,146,0,0.000 5.402 9.263 chr17 76137056 76137056 G T exonic TMC8 nonsynonymous SNV TMC8:NM_152468:exon16:c.G2044T:p.G682C Score=259;Name=lod=15 0 0.999487 C 1.0 D 0.973 D 0.001627 N 0.84954 D 5.03 273 37 0.119 218 0 0.000 1.56830593316998475e-09 0.622 --- 261,228,33,0.126 188,188,0,0.000 8.083 7.751 chr17 76142498 76142498 C A exonic C17orf99 nonsynonymous SNV C17orf99:NM_001163075:exon1:c.C10A:p.P4T 0 69 12 0.148 82 0 0.000 0.000145811362542574197 0.500 --- 68,57,11,0.162 65,65,0,0.000 3.191 4.985 chr17 76496432 76496432 G A exonic DNAH17 synonymous SNV DNAH17:NM_173628:exon36:c.C5595T:p.G1865G Score=546;Name=lod=220 168 27 0.138 223 0 0.000 4.09312774626758363e-10 0.630 --- 155,132,23,0.148 175,175,0,0.000 7.953 10.291 chr17 76969207 76969207 G A exonic LGALS3BP synonymous SNV LGALS3BP:NM_005567:exon5:c.C474T:p.S158S 148 39 0.209 167 0 0.000 2.67814773194195013e-12 0.385 --- 152,120,32,0.211 138,138,0,0.000 9.720 60 chr17 77807845 77807845 C T exonic CBX4 synonymous SNV CBX4:NM_003655:exon5:c.G1596A:p.E532E Score=601;Name=lod=370 248 54 0.179 278 0 0.000 6.21550559062976782e-17 0.759 --- 247,198,49,0.198 234,234,0,0.000 15.280 60 chr17 78356843 78356843 C T exonic RNF213 synonymous SNV RNF213:NM_001256071:exon58:c.C14043T:p.I4681I 54 8 0.129 72 0 0.000 0.00162266897582703487 0.375 --- 50,44,6,0.120 56,56,0,0.000 2.031 4.587 chr17 78363166 78363166 A G exonic RNF213 nonsynonymous SNV RNF213:NM_001256071:exon65:c.A15194G:p.K5065R Score=363;Name=lod=40 0.04 0.97949 C 0.718602 NA 0.139 B 0.958291 N 7.6E-4 N 4.41 84 10 0.106 92 0 0.000 0.00152210787648893103 0.200 --- 86,76,9,0.106 80,80,0,0.000 2.493 4.748 chr17 79082780 79082780 G A exonic BAIAP2 synonymous SNV BAIAP2:NM_017450:exon14:c.G1548A:p.T516T Score=542;Name=lod=212 187 47 0.201 244 0 0.000 1.91196644673467919e-16 0.553 --- 188,149,39,0.207 186,186,0,0.000 12.389 8.238 chr17 79203005 79203005 G A exonic ENTHD2 nonsynonymous SNV ENTHD2:NM_144679:exon12:c.C1301T:p.A434V 1 0.968597 C 0.0 T 0.0010 B 0.496327 N 0.003419 N 2.05 201 52 0.206 195 0 0.000 1.47096792704856556e-14 0.692 --- 252,200,51,0.203 195,195,0,0.000 13.511 11.944 chr17 79220304 79220304 C A exonic SLC38A10 nonsynonymous SNV SLC38A10:NM_001037984:exon16:c.G2412T:p.E804D 0.18 0.817203 N 0.859659 NA 0.603 P 1.0E-6 U 0.013477 N 0.998 236 74 0.239 287 0 0.000 8.46990501658128811e-24 0.378 --- 275,209,65,0.237 259,259,0,0.000 20.600 14.353 chr17 79516389 79516389 C T splicing C17orf70 NM_025161:exon5:c.1247-1G>A Score=329;Name=lod=29 146 47 0.244 182 0 0.000 1.29229129391063557e-15 0.277 --- 159,118,41,0.258 146,146,0,0.000 12.827 10.647 chr17 79539057 79539057 A G exonic NPLOC4 nonsynonymous SNV NPLOC4:NM_017921:exon13:c.T1339C:p.Y447H Score=491;Name=lod=132 0 80 9 0.101 70 0 0.000 0.00492978534091295614 0.556 --- 66,59,7,0.106 54,54,0,0.000 1.794 6.79 chr17 79769573 79769573 T C exonic GCGR nonsynonymous SNV GCGR:NM_000160:exon8:c.T704C:p.I235T Score=481;Name=lod=120 0.09 252 43 0.146 278 0 0.000 8.55207479319957557e-14 0.465 --- 253,216,36,0.143 237,237,0,0.000 10.894 11.631 chr17 79792401 79792401 C T exonic PPP1R27 nonsynonymous SNV PPP1R27:NM_001007533:exon2:c.G319A:p.D107N Score=381;Name=lod=47 0.37 0.995461 C 0.05 T 0.0040 B 1.0 D 0.948362 D 2.71 151 34 0.184 164 0 0.000 1.33984038867475576e-10 0.529 --- 157,130,27,0.172 135,135,0,0.000 7.608 14.436 chr17 79986131 79986131 A G exonic LRRC45 nonsynonymous SNV LRRC45:NM_144999:exon10:c.A1069G:p.K357E 0.99658 C 0.96 D 0.854 D 0.999983 D 0.838427 D 3.36 190 47 0.198 196 0 0.000 5.59029366831942558e-14 0.404 --- 215,172,43,0.200 179,178,0,0.000 12.091 60 chr17 79990858 79990858 G A exonic RAC3 synonymous SNV RAC3:NM_005052:exon4:c.G261A:p.P87P Score=606;Name=lod=386 106 26 0.197 177 0 0.000 5.25073177349030856e-11 0.423 --- 122,100,22,0.180 143,143,0,0.000 7.898 15.0 chr17 80039104 80039104 G A exonic FASN synonymous SNV FASN:NM_004104:exon38:c.C6531T:p.R2177R Score=549;Name=lod=227 141 41 0.225 197 0 0.000 6.21155719785267506e-15 0.561 --- 156,124,32,0.205 161,160,0,0.000 10.589 14.091 chr17 80210936 80210936 G A exonic CSNK1D nonsynonymous SNV CSNK1D:NM_001893:exon4:c.C521T:p.T174M,CSNK1D:NM_139062:exon4:c.C521T:p.T174M Score=472;Name=lod=110 0 0.999652 C 1.0 D 0.999 D 1.0 D 0.999346 D 5.29 130 34 0.207 140 0 0.000 1.48361810175569424e-10 0.559 --- 149,118,29,0.197 125,125,0,0.000 8.273 11.321 chr17 80364301 80364301 G T exonic OGFOD3 nonsynonymous SNV OGFOD3:NM_024648:exon5:c.C481A:p.L161M,OGFOD3:NM_175902:exon5:c.C481A:p.L161M Score=547;Name=lod=223 0.1 0.999036 C 0.85 T 0.0020 B 0.999815 D 0.725528 D 4.21 55 17 0.236 83 0 0.000 6.96665856727356444e-07 0.353 --- 59,44,15,0.254 61,61,0,0.000 5.074 12.936 chr17 80394589 80394589 G A exonic HEXDC synonymous SNV HEXDC:NM_173620:exon7:c.G678A:p.T226T 73 17 0.189 70 0 0.000 3.38910806782744052e-05 0.529 --- 70,59,11,0.157 61,61,0,0.000 3.089 10.172 chr17 80399062 80399062 T C exonic HEXDC nonsynonymous SNV HEXDC:NM_173620:exon10:c.T1172C:p.L391P Score=493;Name=lod=135 0 0.04977 N 1.0 D 0.0 B 0.246174 N 4.7E-5 N -1.19 186 24 0.114 151 0 0.000 1.4584924665150541e-06 0.458 --- 183,161,19,0.106 149,147,0,0.000 4.956 7.138 chr17 80878473 80878473 T C exonic TBCD nonsynonymous SNV TBCD:NM_005993:exon24:c.T2080C:p.F694L Score=443;Name=lod=84 0.71 69 20 0.225 89 0 0.000 5.73468444535377729e-07 0.500 --- 70,56,14,0.200 82,81,0,0.000 5.009 6.299 chr18 2688638 2688638 C T exonic SMCHD1 nonsynonymous SNV SMCHD1:NM_015295:exon7:c.C766T:p.P256S Score=652;Name=lod=593 85 11 0.115 89 0 0.000 0.000775872888017725102 0.273 --- 81,70,11,0.136 71,71,0,0.000 3.071 6.568 chr18 3142010 3142010 C T exonic MYOM1 nonsynonymous SNV MYOM1:NM_003803:exon14:c.G1952A:p.R651Q,MYOM1:NM_019856:exon14:c.G1952A:p.R651Q Score=510;Name=lod=158 0.0018 rs184721031 143 39 0.214 206 0 0.000 1.34469704646053795e-14 0.487 --- 148,116,31,0.211 163,163,0,0.000 10.852 9.212 chr18 3879778 3879778 G A exonic DLGAP1 synonymous SNV DLGAP1:NM_001242761:exon4:c.C291T:p.N97N,DLGAP1:NM_004746:exon4:c.C291T:p.N97N Score=601;Name=lod=371 332 82 0.198 417 0 0.000 1.75421503522463092e-27 0.451 --- 348,281,66,0.190 368,368,0,0.000 22.249 60 chr18 8783933 8783933 C T exonic SOGA2 nonsynonymous SNV SOGA2:NM_015210:exon6:c.C823T:p.R275C Score=361;Name=lod=39 0.999103 C 1.0 D 1.0 D 0.999981 D 0.999875 D 5.46 249 57 0.186 326 0 0.000 5.71677795177815751e-20 0.579 --- 268,219,49,0.183 286,286,0,0.000 16.536 60 chr18 10758061 10758061 G A exonic PIEZO2 stopgain PIEZO2:NM_022068:exon25:c.C3754T:p.R1252X Score=340;Name=lod=32 133 26 0.164 158 0 0.000 9.79691243810057154e-09 0.423 --- 124,103,21,0.169 131,130,0,0.000 6.950 9.735 chr18 11897036 11897036 A G exonic MPPE1 synonymous SNV MPPE1:NM_001242904:exon2:c.T228C:p.A76A,MPPE1:NM_023075:exon3:c.T228C:p.A76A 70 16 0.186 99 0 0.000 2.09443727336184504e-06 0.375 --- 75,61,14,0.187 75,75,0,0.000 4.203 10.334 chr18 12337349 12337349 G A exonic AFG3L2 synonymous SNV AFG3L2:NM_006796:exon16:c.C2166T:p.D722D 62 21 0.253 100 0 0.000 1.27301337352293254e-08 0.714 --- 74,58,16,0.216 87,87,0,0.000 5.826 8.15 chr18 13124655 13124655 C T exonic CEP192 synonymous SNV CEP192:NM_032142:exon45:c.C7500T:p.P2500P Score=503;Name=lod=148 0.000077 0.0014 rs9961213 95 21 0.181 120 0 0.000 1.21198393028863177e-07 0.381 --- 96,78,18,0.188 103,103,0,0.000 6.093 9.464 chr18 19345769 19345769 G A exonic MIB1 nonsynonymous SNV MIB1:NM_020774:exon2:c.G266A:p.R89H Score=651;Name=lod=588 0.0082 0.999671 C 0.99 D 0.99 D 1.0 D 0.998895 D 5.35 87 21 0.194 147 0 0.000 4.25184259828734847e-09 0.667 --- 88,71,17,0.193 117,117,0,0.000 6.665 14.557 chr18 21898733 21898733 T C exonic OSBPL1A synonymous SNV OSBPL1A:NM_080597:exon8:c.A666G:p.K222K Score=499;Name=lod=142 67 8 0.107 83 0 0.000 0.00209708970910434572 0.625 --- 62,56,6,0.097 63,63,0,0.000 1.883 4.373 chr18 23615031 23615031 T A exonic SS18 nonsynonymous SNV SS18:NM_005637:exon8:c.A941T:p.Y314F,SS18:NM_001007559:exon9:c.A1034T:p.Y345F Score=594;Name=lod=347 0.34 0.998214 C 0.54 T 0.430539 NA 1.0 D 0.551366 D 5.43 138 23 0.143 159 0 0.000 1.02944613959405055e-07 0.522 --- 124,103,21,0.169 124,124,0,0.000 6.422 11.343 chr18 23758828 23758828 G A exonic PSMA8 nonsynonymous SNV PSMA8:NM_001025096:exon5:c.G512A:p.R171Q,PSMA8:NM_001025097:exon5:c.G398A:p.R133Q,PSMA8:NM_144662:exon5:c.G530A:p.R177Q Score=611;Name=lod=407 0.000077 rs141896498 0.08 0.963945 C 0.9 T 0.155 P 0.999998 N 0.999788 D 3.78 76 11 0.126 96 0 0.000 0.000197028640253511156 0.455 --- 77,67,10,0.130 81,80,0,0.000 3.232 6.328 chr18 24127874 24127874 G A exonic KCTD1 synonymous SNV KCTD1:NM_001142730:exon1:c.C627T:p.R209R Score=862;Name=lod=4249 233 61 0.207 321 0 0.000 7.48490479856304018e-22 0.443 --- 255,200,54,0.213 290,290,0,0.000 19.319 60 chr18 28909947 28909947 A C exonic DSG1 synonymous SNV DSG1:NM_001942:exon5:c.A465C:p.P155P Score=505;Name=lod=151 154 25 0.140 192 0 0.000 4.81507135763061887e-09 0.440 --- 141,123,18,0.128 151,151,0,0.000 5.951 11.774 chr18 29848709 29848709 T A exonic GAREM nonsynonymous SNV GAREM:NM_001242409:exon6:c.A1756T:p.N586Y,GAREM:NM_022751:exon6:c.A1753T:p.N585Y 0.06 0.972332 C 0.96 D 0.147 B 0.998893 N 0.002102 N 4.25 75 12 0.138 102 0 0.000 5.84115231485625806e-05 0.167 --- 78,67,11,0.141 85,85,0,0.000 3.692 4.961 chr18 31320169 31320169 T G exonic ASXL3 stopgain ASXL3:NM_030632:exon11:c.T2801G:p.L934X 1 162 22 0.120 168 0 0.000 3.74917452165670164e-07 0.000 --- 183,155,28,0.153 142,142,0,0.000 7.259 8.94 chr18 32825919 32825919 G A exonic ZNF397 nonsynonymous SNV ZNF397:NM_001135178:exon4:c.G1250A:p.R417Q Score=494;Name=lod=136 0.01 163 44 0.213 263 0 0.000 1.23676156192348244e-17 0.455 --- 182,145,37,0.203 226,226,0,0.000 13.948 10.047 chr18 34378414 34378414 T C exonic TPGS2 nonsynonymous SNV TPGS2:NM_001271950:exon5:c.A526G:p.K176E,TPGS2:NM_001271949:exon6:c.A550G:p.K184E,TPGS2:NM_001271951:exon6:c.A655G:p.K219E,TPGS2:NM_001271953:exon6:c.A655G:p.K219E,TPGS2:NM_001271954:exon6:c.A655G:p.K219E,TPGS2:NM_001271956:exon6:c.A655G:p.K219E,TPGS2:NM_015476:exon6:c.A655G:p.K219E,TPGS2:NM_001271952:exon7:c.A511G:p.K171E Score=454;Name=lod=93 0 0.998767 C 0.71 T 0.28 P 1.0 D 0.999227 D 5.82 137 28 0.170 211 0 0.000 2.3802391791268683e-11 0.571 --- 147,123,24,0.163 172,172,0,0.000 8.553 9.493 chr18 34853026 34853026 G A exonic CELF4 nonsynonymous SNV CELF4:NM_001025087:exon7:c.C899T:p.A300V,CELF4:NM_001025088:exon7:c.C896T:p.A299V,CELF4:NM_001025089:exon7:c.C872T:p.A291V,CELF4:NM_020180:exon7:c.C902T:p.A301V Score=639;Name=lod=529 0.03 0.999691 C 0.97 D 0.0050 B 0.999994 D 0.288749 N 4.87 157 24 0.133 205 0 0.000 5.37409447990734136e-09 0.625 --- 146,123,23,0.158 168,168,0,0.000 8.085 5.548 chr18 42532046 42532046 G A exonic SETBP1 nonsynonymous SNV SETBP1:NM_015559:exon4:c.G2741A:p.R914Q Score=611;Name=lod=404 0.09 0.999825 C 0.66 T 0.907 D 0.99981 D 0.022624 N 5.82 164 35 0.176 232 0 0.000 3.07994877876682283e-13 0.600 --- 175,143,32,0.183 205,205,0,0.000 11.505 60 chr18 44559475 44559475 C T exonic TCEB3B nonsynonymous SNV TCEB3B:NM_016427:exon1:c.G2161A:p.A721T Score=0.926626;Name=chr18:44542076 0.36 6.4E-4 N 0.47 T 0.01 B 0.0 U 5.1E-5 N -5.2 364 81 0.182 494 0 0.000 7.98782932551346851e-29 0.432 --- 368,300,68,0.185 411,411,0,0.000 23.708 9.97 chr18 48255538 48255538 A G exonic MAPK4 nonsynonymous SNV MAPK4:NM_002747:exon6:c.A1078G:p.S360G Score=403;Name=lod=58 0.09 0.99866 C 0.864686 NA 0.641848 NA 1.0 D 0.684601 NA 5.23 135 23 0.146 111 0 0.000 2.63633382429030109e-06 0.870 --- 144,121,23,0.160 99,99,0,0.000 5.298 14.523 chr18 50589678 50589678 C T exonic DCC nonsynonymous SNV DCC:NM_005215:exon6:c.C989T:p.P330L Score=707;Name=lod=995 0.000077 ID=COSM438203;OCCURENCE=1(breast) rs138541235 0 0.999111 C 0.99 D 0.992 D 1.0 D 0.960631 D 5.47 48 11 0.186 76 0 0.000 6.25391630516643354e-05 0.727 --- 53,43,10,0.189 67,67,0,0.000 3.775 6.938 chr18 54603098 54603098 G A exonic WDR7 nonsynonymous SNV WDR7:NM_052834:exon22:c.G3694A:p.A1232T,WDR7:NM_015285:exon23:c.G3793A:p.A1265T Score=578;Name=lod=299 ID=COSM1389213;OCCURENCE=1(large_intestine) 0 0.999519 C 0.99 D 0.814 P 1.0 D 0.999966 D 5.06 116 23 0.165 177 0 0.000 2.06943210115017221e-09 0.522 --- 118,99,18,0.154 141,141,0,0.000 6.517 5.888 chr18 54606600 54606600 A G exonic WDR7 nonsynonymous SNV WDR7:NM_052834:exon24:c.A3941G:p.Q1314R,WDR7:NM_015285:exon25:c.A4040G:p.Q1347R Score=636;Name=lod=511 0.07 0.961366 C 0.93 T 0.831 P 1.0 D 0.989234 D 3.33 75 16 0.176 91 0 0.000 1.48284132994237971e-05 0.500 --- 69,59,10,0.145 71,71,0,0.000 3.227 11.066 chr18 57122103 57122103 C T exonic CCBE1 nonsynonymous SNV CCBE1:NM_133459:exon6:c.G634A:p.V212M Score=543;Name=lod=214 0 0.976613 C 1.0 D 0.956 D 1.0 D 0.965645 D 3.97 72 14 0.163 110 0 0.000 5.15409838528643401e-06 0.500 --- 63,54,9,0.143 81,81,0,0.000 3.381 8.313 chr18 60025563 60025563 A G exonic TNFRSF11A synonymous SNV TNFRSF11A:NM_001270949:exon5:c.A510G:p.R170R,TNFRSF11A:NM_001270950:exon5:c.A510G:p.R170R,TNFRSF11A:NM_001270951:exon5:c.A510G:p.R170R,TNFRSF11A:NM_003839:exon5:c.A510G:p.R170R Score=479;Name=lod=118 79 16 0.168 112 0 0.000 1.84175214219174047e-06 0.500 --- 83,69,14,0.169 91,91,0,0.000 4.772 8.226 chr18 65180667 65180667 A T exonic DSEL nonsynonymous SNV DSEL:NM_032160:exon2:c.T1209A:p.D403E Score=506;Name=lod=152 0.03 0.180289 N 0.97 D 0.0060 B 0.963324 U 0.001462 N 0.332 164 23 0.123 216 0 0.000 9.89780537658396586e-09 0.609 --- 161,140,21,0.130 187,187,0,0.000 7.355 11.333 chr18 67802426 67802426 T C exonic RTTN nonsynonymous SNV RTTN:NM_173630:exon22:c.A2879G:p.D960G Score=501;Name=lod=145 0.06 0.996302 C 0.76 T 0.996 D 0.999971 D 0.931508 D 4.65 51 6 0.105 57 0 0.000 0.0272135413809522764 0.833 --- 45,40,5,0.111 45,45,0,0.000 1.255 4.415 chr18 72020720 72020720 A G exonic C18orf63 synonymous SNV C18orf63:NM_001174123:exon12:c.A1218G:p.V406V 104 26 0.200 157 0 0.000 2.51196648768043831e-10 0.615 --- 106,83,23,0.217 121,121,0,0.000 8.225 60 chr18 72113850 72113850 G A exonic FAM69C synonymous SNV FAM69C:NM_001044369:exon2:c.C867T:p.S289S Score=522;Name=lod=176 164 33 0.168 214 0 0.000 6.30919456685144735e-12 0.697 --- 166,137,29,0.175 181,181,0,0.000 9.893 60 chr18 72998236 72998236 C T exonic TSHZ1 nonsynonymous SNV TSHZ1:NM_005786:exon2:c.C739T:p.R247C Score=658;Name=lod=627 0 0.998426 C 1.0 D 1.0 D 1.0 D 0.983588 D 4.93 166 55 0.249 303 0 0.000 2.89224737686580639e-23 0.418 --- 194,145,49,0.253 266,264,0,0.000 20.008 60 chr18 77733737 77733737 C T exonic TXNL4A nonsynonymous SNV TXNL4A:NM_006701:exon3:c.G377A:p.G126D Score=409;Name=lod=61 0 0.999392 C 1.0 D 0.815 P 1.0 D 1.0 D 5.82 227 26 0.103 286 0 0.000 1.40696985321922178e-09 0.577 --- 201,182,19,0.095 223,223,0,0.000 6.363 10.771 chr18 77896476 77896476 T A exonic ADNP2 nonsynonymous SNV ADNP2:NM_014913:exon4:c.T3180A:p.D1060E Score=493;Name=lod=134 0.958027 C 0.57 T 0.951 D 0.999729 D 0.209443 N 3.14 157 57 0.266 195 0 0.000 1.76714708564050422e-18 0.509 --- 183,134,49,0.268 173,173,0,0.000 15.716 60 chr19 622672 622672 G A exonic POLRMT synonymous SNV POLRMT:NM_005035:exon8:c.C1536T:p.H512H 234 55 0.190 287 0 0.000 3.27272119634452543e-18 0.636 --- 256,206,49,0.192 249,249,0,0.000 15.489 4.791 chr19 875322 875322 G A exonic MED16 nonsynonymous SNV MED16:NM_005481:exon10:c.C1693T:p.R565C Score=395;Name=lod=54 0 0.974883 C 1.0 D 1.0 D 0.999154 N 0.999985 D 2.85 161 35 0.179 162 0 0.000 2.87382261730619871e-10 0.543 --- 150,123,27,0.180 119,119,0,0.000 7.066 7.982 chr19 920729 920729 A C exonic KISS1R nonsynonymous SNV KISS1R:NM_032551:exon5:c.A1178C:p.E393A 0 0.895535 N 1.0 D 0.955 D 0.848376 N 0.004088 N 1.32 194 22 0.102 186 0 0.000 1.32503134789426419e-06 0.500 --- 173,158,15,0.087 149,148,0,0.000 4.118 7.363 chr19 1005141 1005141 C T exonic GRIN3B synonymous SNV GRIN3B:NM_138690:exon3:c.C1641T:p.P547P Score=582;Name=lod=309 203 32 0.136 226 0 0.000 1.79579385446699868e-10 0.500 --- 218,187,29,0.134 185,185,0,0.000 8.075 15.654 chr19 1007678 1007678 G A exonic GRIN3B nonsynonymous SNV GRIN3B:NM_138690:exon4:c.G2104A:p.A702T Score=519;Name=lod=172 0.57 0.917781 N 0.29 T 0.964 D 1.0 U 0.017752 N 1.73 183 44 0.194 186 0 0.000 5.12680003047048812e-13 0.568 --- 178,143,35,0.197 146,146,0,0.000 9.620 60 chr19 1011927 1011927 C T exonic TMEM259 synonymous SNV TMEM259:NM_001033026:exon6:c.G906A:p.T302T,TMEM259:NM_033420:exon6:c.G906A:p.T302T Score=562;Name=lod=257 122 43 0.261 158 1 0.006 3.33405380470154234e-13 0.442 1.000 163,121,42,0.258 159,157,1,0.006 12.178 60 chr19 1079785 1079785 G A exonic HMHA1 synonymous SNV HMHA1:NM_001258328:exon12:c.G1506A:p.T502T,HMHA1:NM_012292:exon12:c.G1458A:p.T486T 184 58 0.240 220 0 0.000 1.45240664616602289e-18 0.621 --- 205,153,52,0.254 182,181,0,0.000 15.789 60 chr19 1108585 1108585 G A exonic SBNO2 synonymous SNV SBNO2:NM_001100122:exon29:c.C3564T:p.R1188R,SBNO2:NM_014963:exon32:c.C3735T:p.R1245R 0.04 165 25 0.132 140 0 0.000 6.00409785059715607e-07 0.800 --- 178,154,24,0.135 133,133,0,0.000 5.985 3.303 chr19 1111044 1111044 C T exonic SBNO2 nonsynonymous SNV SBNO2:NM_001100122:exon22:c.G2687A:p.R896Q,SBNO2:NM_014963:exon25:c.G2858A:p.R953Q ID=COSM710128,COSM710129;OCCURENCE=1(lung) 0.02 157 39 0.199 179 0 0.000 1.4020025043769886e-12 0.359 --- 168,136,32,0.190 142,142,0,0.000 9.115 10.512 chr19 1219388 1219388 G A exonic STK11 nonsynonymous SNV STK11:NM_000455:exon3:c.G440A:p.R147H Score=428;Name=lod=73 0.06 110 29 0.209 163 0 0.000 2.91743194827498254e-11 0.621 --- 133,104,28,0.212 148,148,0,0.000 9.878 11.383 chr19 1257100 1257100 G A exonic MIDN synonymous SNV MIDN:NM_177401:exon8:c.G1236A:p.A412A Score=614;Name=lod=418 258 41 0.137 219 0 0.000 8.18682334960165641e-11 0.561 --- 251,215,35,0.140 185,184,0,0.000 8.757 11.889 chr19 1395402 1395402 C T exonic NDUFS7 nonsynonymous SNV NDUFS7:NM_024407:exon8:c.C557T:p.T186M Score=440;Name=lod=82 0 0.996888 C 1.0 D 0.995 D 0.879752 NA 8.77E-4 N 4.31 249 52 0.173 301 0 0.000 3.97966462671388472e-17 0.519 --- 263,215,48,0.183 256,256,0,0.000 15.089 13.854 chr19 1453491 1453491 G A exonic APC2 synonymous SNV APC2:NM_005883:exon4:c.G294A:p.P98P 0.000154 rs139841074 286 70 0.197 309 0 0.000 3.26252797623852228e-21 0.500 --- 292,235,57,0.195 259,259,0,0.000 16.942 60 chr19 1456950 1456950 C T exonic APC2 synonymous SNV APC2:NM_005883:exon9:c.C915T:p.C305C Score=496;Name=lod=138 237 54 0.186 280 1 0.004 3.3612756292846089e-16 0.444 0.000 252,206,46,0.183 236,234,1,0.004 12.415 12.57 chr19 1556136 1556136 G A exonic MEX3D nonsynonymous SNV MEX3D:NM_001174118:exon2:c.C1382T:p.A461V,MEX3D:NM_203304:exon2:c.C1382T:p.A461V Score=493;Name=lod=135 0.01 147 37 0.201 132 0 0.000 6.48730869975718663e-10 0.432 --- 148,117,31,0.209 104,104,0,0.000 7.747 15.654 chr19 1978463 1978463 C T exonic CSNK1G2 nonsynonymous SNV CSNK1G2:NM_001319:exon4:c.C251T:p.P84L Score=405;Name=lod=59 0 0.995705 C 1.0 D 0.974 D 0.999999 D 0.999986 D 3.48 149 21 0.124 155 0 0.000 7.39142958916813488e-07 0.571 --- 158,135,22,0.140 146,146,0,0.000 6.542 8.002 chr19 2098292 2098292 G A exonic IZUMO4 synonymous SNV IZUMO4:NM_001031735:exon6:c.G480A:p.S160S,IZUMO4:NM_001039846:exon6:c.G480A:p.S160S 124 27 0.179 132 0 0.000 2.23703990624407537e-08 0.593 --- 136,114,22,0.162 112,112,0,0.000 5.985 9.325 chr19 2245449 2245449 C T exonic SF3A2 nonsynonymous SNV SF3A2:NM_007165:exon5:c.C250T:p.R84W Score=423;Name=lod=70 0 0.996225 C 1.0 D 0.999 D 1.0 D 0.995852 D 4.12 75 14 0.157 80 0 0.000 8.93954875773660754e-05 0.571 --- 78,68,10,0.128 62,62,0,0.000 2.623 6.168 chr19 2405541 2405541 T C exonic TMPRSS9 synonymous SNV TMPRSS9:NM_182973:exon6:c.T738C:p.N246N Score=471;Name=lod=109 140 19 0.119 174 0 0.000 4.37572929493690615e-07 0.158 --- 138,121,17,0.123 147,147,0,0.000 5.589 11.303 chr19 2790441 2790441 C T exonic THOP1 synonymous SNV THOP1:NM_003249:exon2:c.C39T:p.D13D 0.0009 rs186391858 149 23 0.134 148 0 0.000 5.41235403482308968e-07 0.696 --- 147,128,19,0.129 118,118,0,0.000 4.982 8.309 chr19 3273874 3273874 C T exonic CELF5 nonsynonymous SNV CELF5:NM_001172673:exon3:c.C347T:p.A116V,CELF5:NM_021938:exon3:c.C347T:p.A116V Score=567;Name=lod=269 0.01 0.996742 C 0.56 T 0.06 B 0.999999 D 0.086965 N 3.71 58 7 0.108 55 0 0.000 0.0151143894652872966 0.857 --- 63,56,7,0.111 53,53,0,0.000 1.819 4.062 chr19 3546354 3546354 C A exonic MFSD12 nonsynonymous SNV MFSD12:NM_001042680:exon7:c.G1093T:p.G365C,MFSD12:NM_021731:exon7:c.G1093T:p.G365C,MFSD12:NM_174983:exon7:c.G1093T:p.G365C Score=346;Name=lod=34 0 0.996056 C 0.99 D 0.841 P 1.0 D 0.999983 D 4.09 158 47 0.229 202 0 0.000 7.56256601709379044e-16 0.383 --- 173,133,40,0.231 170,170,0,0.000 12.827 14.273 chr19 3573770 3573770 C T exonic HMG20B nonsynonymous SNV HMG20B:NM_006339:exon3:c.C119T:p.A40V Score=468;Name=lod=106 0 123 31 0.201 113 0 0.000 1.43092559628540107e-08 0.548 --- 120,93,27,0.225 88,88,0,0.000 7.024 13.506 chr19 3653534 3653534 G A exonic PIP5K1C synonymous SNV PIP5K1C:NM_001195733:exon7:c.C675T:p.C225C,PIP5K1C:NM_012398:exon7:c.C675T:p.C225C Score=557;Name=lod=244 0.000077 0.0005 rs150537614 94 27 0.223 142 0 0.000 1.35868611088231704e-10 0.481 --- 95,73,22,0.232 124,123,0,0.000 8.606 15.256 chr19 3735631 3735631 C T exonic TJP3 nonsynonymous SNV TJP3:NM_001267560:exon9:c.C1054T:p.R352W,TJP3:NM_001267561:exon9:c.C1081T:p.R361W 0.01 0.038368 N 0.98 D 0.330369 NA 0.41829 N 0.012444 N -4.17 104 25 0.194 102 0 0.000 1.59680771520402637e-07 0.520 --- 106,87,19,0.179 77,77,0,0.000 4.613 14.23 chr19 3736164 3736164 T C exonic TJP3 nonsynonymous SNV TJP3:NM_001267560:exon11:c.T1129C:p.Y377H,TJP3:NM_001267561:exon11:c.T1156C:p.Y386H Score=419;Name=lod=67 0.03 0.996888 C 0.9 T 0.732648 NA 1.0 D 0.998318 D 4.05 104 14 0.119 122 0 0.000 3.18243688073725312e-05 0.786 --- 114,102,12,0.105 110,110,0,0.000 3.436 7.903 chr19 3752896 3752896 G A exonic APBA3 synonymous SNV APBA3:NM_004886:exon7:c.C1104T:p.G368G 175 34 0.163 208 0 0.000 2.70119079393365329e-11 0.412 --- 172,140,32,0.186 164,164,0,0.000 9.907 15.955 chr19 3778304 3778304 G A exonic MATK synonymous SNV MATK:NM_139354:exon13:c.C1278T:p.R426R,MATK:NM_002378:exon14:c.C1404T:p.R468R,MATK:NM_139355:exon14:c.C1401T:p.R467R 211 27 0.113 183 0 0.000 1.483080949186613e-07 0.519 --- 197,174,23,0.117 154,154,0,0.000 5.995 8.046 chr19 3816756 3816756 G A exonic ZFR2 synonymous SNV ZFR2:NM_015174:exon13:c.C2019T:p.N673N Score=541;Name=lod=211 158 33 0.173 175 0 0.000 1.1690597473097906e-10 0.394 --- 159,131,28,0.176 143,143,0,0.000 8.322 14.301 chr19 3819125 3819125 C T exonic ZFR2 nonsynonymous SNV ZFR2:NM_015174:exon12:c.G1849A:p.A617T 0.000081 1 233 44 0.159 238 0 0.000 2.63826705589320054e-13 0.477 --- 227,186,40,0.177 192,192,0,0.000 11.422 9.194 chr19 3819231 3819231 G A exonic ZFR2 synonymous SNV ZFR2:NM_015174:exon12:c.C1743T:p.P581P 0.001315 0.0018 rs182307385 179 38 0.175 171 0 0.000 5.77130359106197848e-11 0.211 --- 190,153,35,0.186 151,150,0,0.000 9.501 7.808 chr19 3907824 3907824 G A exonic ATCAY nonsynonymous SNV ATCAY:NM_033064:exon5:c.G451A:p.G151R Score=409;Name=lod=61 0.04 187 40 0.176 233 0 0.000 7.97810593447844721e-14 0.525 --- 184,147,35,0.192 182,182,0,0.000 11.021 60 chr19 4179282 4179282 C A exonic SIRT6 nonsynonymous SNV SIRT6:NM_001193285:exon3:c.G196T:p.G66C,SIRT6:NM_016539:exon3:c.G196T:p.G66C Score=577;Name=lod=294 0 0.99759 C 1.0 D 1.0 D 1.0 D 1.0 D 4.55 159 21 0.117 184 0 0.000 2.02255932326181874e-07 0.238 --- 160,141,19,0.119 159,159,0,0.000 5.665 6.983 chr19 4217839 4217839 G C exonic ANKRD24 nonsynonymous SNV ANKRD24:NM_133475:exon18:c.G2682C:p.E894D Score=313;Name=lod=25 0.34 212 49 0.188 212 0 0.000 4.36492264110317667e-14 0.571 --- 229,186,43,0.188 179,179,0,0.000 11.471 3.776 chr19 4307898 4307898 C T exonic FSD1 nonsynonymous SNV FSD1:NM_024333:exon4:c.C263T:p.T88M Score=528;Name=lod=187 0.000769 rs149694101 0.05 0.971426 C 0.94 T 0.552 P 0.998857 N 0.011341 N 3.4 70 11 0.136 80 0 0.000 0.000679064345555416976 0.727 --- 69,58,11,0.159 64,64,0,0.000 3.167 6.214 chr19 4327375 4327375 C T exonic STAP2 nonsynonymous SNV STAP2:NM_001013841:exon7:c.G598A:p.V200M,STAP2:NM_017720:exon7:c.G598A:p.V200M 0.09 0.057673 N 0.69 T 0.0 B 0.499714 N 0.081989 N -4.17 88 14 0.137 100 0 0.000 7.60670738130211012e-05 0.357 --- 87,74,13,0.149 86,86,0,0.000 3.822 9.42 chr19 4445555 4445555 C T exonic UBXN6 synonymous SNV UBXN6:NM_001171091:exon11:c.G1107A:p.G369G,UBXN6:NM_025241:exon11:c.G1266A:p.G422G 190 29 0.132 224 0 0.000 4.91463806336169279e-10 0.345 --- 179,154,25,0.140 175,175,0,0.000 7.602 9.672 chr19 4488780 4488780 C T exonic HDGFRP2 synonymous SNV HDGFRP2:NM_001001520:exon4:c.C396T:p.T132T,HDGFRP2:NM_032631:exon4:c.C396T:p.T132T Score=251;Name=lod=14 119 24 0.168 121 0 0.000 2.22463564716317077e-07 0.583 --- 117,94,23,0.197 100,100,0,0.000 6.440 13.933 chr19 4491616 4491616 C T exonic HDGFRP2 synonymous SNV HDGFRP2:NM_001001520:exon5:c.C543T:p.S181S,HDGFRP2:NM_032631:exon5:c.C543T:p.S181S 100 16 0.138 98 0 0.000 3.5210332051762709e-05 0.688 --- 104,90,12,0.118 93,92,0,0.000 3.389 12.586 chr19 4513397 4513397 T C exonic PLIN4 nonsynonymous SNV PLIN4:NM_001080400:exon3:c.A533G:p.D178G Score=352;Name=lod=36 0.04 199 25 0.112 246 0 0.000 4.28369098246759935e-09 0.440 --- 197,175,22,0.112 216,216,0,0.000 7.354 14.654 chr19 4513473 4513473 C T exonic PLIN4 nonsynonymous SNV PLIN4:NM_001080400:exon3:c.G457A:p.G153S 0 ID=COSM1242675,COSM1242674;OCCURENCE=1(oesophagus) rs200264250 0.06 199 33 0.142 270 0 0.000 2.32690544971942554e-12 0.424 --- 202,173,28,0.139 230,230,0,0.000 9.743 12.211 chr19 4525804 4525804 C T exonic PLIN5 synonymous SNV PLIN5:NM_001013706:exon6:c.G561A:p.S187S 123 30 0.196 126 0 0.000 3.81545979853543456e-09 0.267 --- 138,109,28,0.204 115,115,0,0.000 7.951 13.567 chr19 4538959 4538959 C A exonic LRG1 nonsynonymous SNV LRG1:NM_052972:exon2:c.G37T:p.G13W 0.04 0.845841 N 0.92 T 0.014 B 0.500957 N 0.001194 N 0.935 90 31 0.256 117 0 0.000 1.15834806973166243e-10 0.290 --- 105,81,24,0.229 99,99,0,0.000 7.469 7.778 chr19 4679933 4679933 C T exonic DPP9 nonsynonymous SNV DPP9:NM_139159:exon21:c.G2500A:p.G834S Score=624;Name=lod=459 0 65 9 0.122 91 0 0.000 0.000552446304938056093 0.444 --- 59,53,6,0.102 74,74,0,0.000 2.182 5.368 chr19 4818141 4818141 G T exonic TICAM1 synonymous SNV TICAM1:NM_182919:exon2:c.C249A:p.T83T 235 30 0.113 270 1 0.004 4.97476123360584099e-09 0.467 0.000 229,203,26,0.114 218,216,1,0.005 6.593 13.193 chr19 4891150 4891150 G A exonic ARRDC5 nonsynonymous SNV ARRDC5:NM_001080523:exon3:c.C937T:p.P313S Score=265;Name=lod=16 0 93 15 0.139 115 0 0.000 1.10496337788554629e-05 0.667 --- 90,76,14,0.156 92,92,0,0.000 4.522 10.343 chr19 4891488 4891488 G A exonic ARRDC5 nonsynonymous SNV ARRDC5:NM_001080523:exon3:c.C599T:p.T200M 0.01 106 24 0.185 124 0 0.000 4.28382620595462617e-08 0.458 --- 108,88,20,0.185 101,101,0,0.000 6.052 14.074 chr19 5144019 5144019 T C exonic KDM4B synonymous SNV KDM4B:NM_015015:exon19:c.T2592C:p.G864G Score=538;Name=lod=205 106 19 0.152 155 0 0.000 9.7893616306051791e-08 0.632 --- 98,84,14,0.143 124,123,0,0.000 5.185 13.977 chr19 5229626 5229626 C T exonic PTPRS nonsynonymous SNV PTPRS:NM_130854:exon12:c.G2186A:p.R729H,PTPRS:NM_002850:exon15:c.G2225A:p.R742H Score=688;Name=lod=830 0.05 0.986449 C 0.96 D 0.999 D 0.999999 U 0.972445 D 2.47 100 20 0.167 133 0 0.000 1.34229369698361041e-07 0.500 --- 107,89,18,0.168 111,111,0,0.000 5.908 3.261 chr19 5455746 5455746 G A exonic ZNRF4 nonsynonymous SNV ZNRF4:NM_181710:exon1:c.G244A:p.A82T 0.2 0.993749 C 0.8 T 0.711 P 0.1043 U 0.001376 N 1.49 204 27 0.117 278 0 0.000 2.26085756819915287e-10 0.481 --- 202,179,23,0.114 236,236,0,0.000 8.041 11.218 chr19 5667145 5667145 G T exonic SAFB nonsynonymous SNV SAFB:NM_001201340:exon17:c.G2216T:p.S739I,SAFB:NM_001201338:exon18:c.G2423T:p.S808I,SAFB:NM_001201339:exon18:c.G2420T:p.S807I,SAFB:NM_002967:exon18:c.G2423T:p.S808I Score=456;Name=lod=95 Score=0.92642;Name=chr11:122487243 0.14 0.999724 C 0.79 T 0.022 B 0.999921 D 0.617319 D 5.48 48 7 0.127 49 0 0.000 0.0135961802699621541 0.429 --- 48,42,6,0.125 44,44,0,0.000 1.567 5.122 chr19 6380465 6380465 G A exonic GTF2F1 nonsynonymous SNV GTF2F1:NM_002096:exon13:c.C1381T:p.R461C Score=635;Name=lod=508 0.02 0.99007 C 0.958447 NA 0.999 D 1.0 D 0.999995 D 2.59 80 15 0.158 79 0 0.000 6.94254515725410248e-05 0.400 --- 83,69,14,0.169 77,77,0,0.000 4.121 11.243 chr19 6694643 6694643 T C exonic C3 nonsynonymous SNV C3:NM_000064:exon24:c.A2953G:p.T985A Score=358;Name=lod=38 0.18 0.998147 C 0.49 T 0.053 B 0.774188 N 0.335104 N 5.39 79 14 0.151 102 0 0.000 1.81402029760565059e-05 0.214 --- 76,64,12,0.158 85,85,0,0.000 4.127 9.556 chr19 6712412 6712412 G A exonic C3 synonymous SNV C3:NM_000064:exon11:c.C1125T:p.F375F Score=391;Name=lod=52 0.000077 156 25 0.138 145 0 0.000 2.02427576356221745e-07 0.400 --- 149,126,22,0.149 127,127,0,0.000 5.998 10.33 chr19 6828447 6828447 G A exonic VAV1 synonymous SNV VAV1:NM_001258207:exon10:c.G945A:p.T315T,VAV1:NM_001258206:exon11:c.G1041A:p.T347T,VAV1:NM_005428:exon11:c.G1041A:p.T347T Score=493;Name=lod=134 ID=COSM26589;OCCURENCE=1(kidney) 0.0082 115 20 0.148 132 0 0.000 9.09268115100790905e-07 0.750 --- 113,96,17,0.150 113,113,0,0.000 5.099 7.382 chr19 7692702 7692702 C T exonic XAB2 nonsynonymous SNV XAB2:NM_020196:exon3:c.G236A:p.R79Q Score=579;Name=lod=302 ID=COSM179860;OCCURENCE=1(large_intestine) 0.37 0.903624 N 0.55 T 0.952 D 0.999988 D 0.999725 D 2.69 171 21 0.109 210 0 0.000 9.96614635402340359e-08 0.571 --- 156,140,16,0.103 166,166,0,0.000 5.217 7.359 chr19 7936333 7936333 C T exonic FLJ22184 unknown UNKNOWN 201 53 0.209 212 0 0.000 7.21346841705590105e-16 0.453 --- 222,176,46,0.207 180,180,0,0.000 12.857 15.955 chr19 8367408 8367408 C A exonic CD320 nonsynonymous SNV CD320:NM_001165895:exon4:c.G662T:p.G221V,CD320:NM_016579:exon5:c.G788T:p.G263V 0 0.965488 C 1.0 D 0.996 D 0.898189 N 0.893864 D 2.22 114 15 0.116 116 1 0.009 0.000437290826962810382 0.667 1.000 96,84,12,0.125 85,84,1,0.012 2.516 7.135 chr19 8399466 8399466 G T exonic KANK3 synonymous SNV KANK3:NM_198471:exon3:c.C1245A:p.T415T 200 49 0.197 161 0 0.000 4.3568508662341321e-12 0.592 --- 219,174,44,0.202 144,143,1,0.007 8.911 11.061 chr19 8550572 8550572 C T exonic HNRNPM synonymous SNV HNRNPM:NM_005968:exon14:c.C1260T:p.G420G,HNRNPM:NM_031203:exon15:c.C1143T:p.G381G Score=546;Name=lod=221 0.003768 0.0018 rs76937953 161 42 0.207 212 0 0.000 8.07778973601720948e-15 0.595 --- 167,132,35,0.210 181,181,0,0.000 12.058 60 chr19 8595187 8595187 C T exonic MYO1F nonsynonymous SNV MYO1F:NM_012335:exon21:c.G2221A:p.G741R Score=530;Name=lod=190 0 0.998738 C 0.959048 NA 1.0 D 1.0 D 0.999961 D 5.15 134 34 0.202 164 0 0.000 1.95239554330359289e-11 0.441 --- 148,119,29,0.196 141,141,0,0.000 8.991 60 chr19 8609319 8609319 G A exonic MYO1F synonymous SNV MYO1F:NM_012335:exon14:c.C1386T:p.D462D Score=570;Name=lod=276 ID=COSM180083;OCCURENCE=1(large_intestine) 194 24 0.110 187 0 0.000 3.12799150158129551e-07 0.417 --- 162,144,18,0.111 140,140,0,0.000 5.044 6.57 chr19 8616691 8616691 T C exonic MYO1F nonsynonymous SNV MYO1F:NM_012335:exon8:c.A704G:p.Y235C Score=559;Name=lod=250 0 0.927059 N 1.0 D 1.0 D 0.999977 D 0.999994 D 2.28 115 24 0.173 127 0 0.000 6.64709709779663779e-08 0.625 --- 122,101,21,0.172 112,112,0,0.000 6.275 14.955 chr19 9204087 9204087 A C exonic OR1M1 nonsynonymous SNV OR1M1:NM_001004456:exon1:c.A167C:p.H56P Score=476;Name=lod=115 0 0.995301 C 1.0 D 0.955 D 0.998186 N 0.756143 D 3.5 97 11 0.102 88 0 0.000 0.00122116604976096496 1.000 --- 103,87,16,0.155 76,75,1,0.013 2.902 5.309 chr19 9296624 9296624 A C exonic OR7D2 nonsynonymous SNV OR7D2:NM_175883:exon1:c.A167C:p.H56P Score=468;Name=lod=106 0 0.985346 C 1.0 D 0.957 D 0.99957 U 0.035992 N 2.46 98 17 0.148 137 0 0.000 8.08412314745203541e-07 1.000 --- 116,91,25,0.216 113,113,0,0.000 7.836 3.464 chr19 9406444 9406444 G T exonic ZNF699 nonsynonymous SNV ZNF699:NM_198535:exon5:c.C1636A:p.L546I Score=251;Name=lod=14 0.21 0.999088 C 0.882245 NA 0.919 D 0.963054 N 0.00182 N 3.49 136 22 0.139 194 0 0.000 9.3675354299701168e-09 0.636 --- 138,117,21,0.152 158,158,0,0.000 7.340 9.601 chr19 9453323 9453323 A C exonic ZNF559 nonsynonymous SNV ZNF559:NM_001202406:exon6:c.A1388C:p.H463P,ZNF559:NM_001202407:exon6:c.A1070C:p.H357P,ZNF559:NM_032497:exon7:c.A1196C:p.H399P Score=235;Name=lod=12 0 0.835952 N 1.0 D 1.0 D 0.838546 NA 0.018943 N 0.942 161 23 0.125 152 0 0.000 6.46918232374233145e-07 0.391 --- 152,131,21,0.138 136,135,1,0.007 5.028 9.068 chr19 9721715 9721715 A G exonic ZNF561 nonsynonymous SNV ZNF561:NM_152289:exon6:c.T622C:p.Y208H Score=0.924547;Name=chr5:54153186 0.09 0.089324 N 0.46 T 0.98 D 0.652115 NA 0.004836 N -1.04 117 16 0.120 119 0 0.000 2.64957406170630082e-05 0.375 --- 116,100,16,0.138 99,99,0,0.000 4.483 6.723 chr19 9946077 9946077 A G exonic PIN1 synonymous SNV PIN1:NM_006221:exon1:c.A57G:p.S19S Score=627;Name=lod=471 34 18 0.346 42 0 0.000 6.24672999203113914e-06 0.500 --- 57,34,15,0.306 59,45,0,0.000 4.685 8.205 chr19 10220804 10220804 C T exonic PPAN,PPAN-P2RY11 nonsynonymous SNV PPAN-P2RY11:NM_001040664:exon8:c.C704T:p.A235V,PPAN-P2RY11:NM_001198690:exon8:c.C704T:p.A235V,PPAN:NM_020230:exon8:c.C704T:p.A235V ID=COSM1221614,COSM1221615;OCCURENCE=1(large_intestine) 0.09 0.970895 C 0.74 T 0.0 B 0.896951 NA 0.452861 NA 3.6 311 68 0.179 358 0 0.000 9.33671553095362458e-22 0.529 --- 343,282,61,0.178 317,317,0,0.000 18.415 15.955 chr19 10221526 10221526 C T exonic PPAN,PPAN-P2RY11 synonymous SNV PPAN-P2RY11:NM_001040664:exon11:c.C1185T:p.G395G,PPAN-P2RY11:NM_001198690:exon11:c.C1185T:p.G395G,PPAN:NM_020230:exon11:c.C1185T:p.G395G Score=454;Name=lod=93 366 61 0.143 415 0 0.000 1.21712296328077458e-19 0.443 --- 379,323,55,0.146 359,359,0,0.000 16.826 15.477 chr19 10265044 10265044 G A exonic DNMT1 synonymous SNV DNMT1:NM_001379:exon21:c.C1896T:p.F632F,DNMT1:NM_001130823:exon22:c.C1944T:p.F648F Score=401;Name=lod=57 0.002691 0.0023 0.0082 rs61750052 140 32 0.186 156 0 0.000 2.42350987091023522e-10 0.531 --- 145,115,28,0.196 126,126,0,0.000 8.028 13.435 chr19 10266563 10266563 A G exonic DNMT1 synonymous SNV DNMT1:NM_001379:exon18:c.T1410C:p.D470D,DNMT1:NM_001130823:exon19:c.T1458C:p.D486D Score=507;Name=lod=154 0.000077 98 12 0.109 133 0 0.000 5.2376494510050477e-05 0.667 --- 89,81,8,0.090 108,108,0,0.000 2.839 7.724 chr19 10624741 10624741 G A exonic S1PR5 nonsynonymous SNV S1PR5:NM_001166215:exon2:c.C947T:p.A316V,S1PR5:NM_030760:exon2:c.C947T:p.A316V Score=313;Name=lod=25 0 0.931456 N 1.0 D 0.96 D 0.999272 U 0.578846 D 1.8 265 52 0.164 253 0 0.000 8.92014812192992705e-15 0.442 --- 267,219,48,0.180 216,216,0,0.000 12.999 10.192 chr19 10662572 10662572 G T splicing ATG4D NM_032885:exon7:c.967-1G>T Score=401;Name=lod=57 94 16 0.145 95 0 0.000 2.95396141766980267e-05 0.625 --- 89,77,12,0.135 83,83,0,0.000 3.451 5.048 chr19 11101966 11101966 C T exonic SMARCA4 synonymous SNV SMARCA4:NM_001128845:exon7:c.C1386T:p.I462I,SMARCA4:NM_001128846:exon7:c.C1386T:p.I462I,SMARCA4:NM_001128847:exon7:c.C1386T:p.I462I,SMARCA4:NM_001128848:exon7:c.C1386T:p.I462I,SMARCA4:NM_001128849:exon8:c.C1386T:p.I462I,SMARCA4:NM_003072:exon8:c.C1386T:p.I462I,SMARCA4:NM_001128844:exon9:c.C1386T:p.I462I 124 18 0.127 143 0 0.000 2.01194321322485732e-06 0.556 --- 118,101,16,0.137 117,117,0,0.000 4.754 8.378 chr19 11121173 11121173 C T exonic SMARCA4 nonsynonymous SNV SMARCA4:NM_001128845:exon14:c.C2240T:p.A747V,SMARCA4:NM_001128846:exon14:c.C2240T:p.A747V,SMARCA4:NM_001128847:exon14:c.C2240T:p.A747V,SMARCA4:NM_001128848:exon14:c.C2240T:p.A747V,SMARCA4:NM_001128849:exon15:c.C2240T:p.A747V,SMARCA4:NM_003072:exon15:c.C2240T:p.A747V,SMARCA4:NM_001128844:exon16:c.C2240T:p.A747V 0.01 0.998258 C 0.97 D 0.0040 B 0.979734 N 0.132299 N 4.32 94 22 0.190 111 0 0.000 1.7623104261843127e-07 0.455 --- 94,76,18,0.191 93,93,0,0.000 5.508 14.068 chr19 11338023 11338023 C T exonic DOCK6 nonsynonymous SNV DOCK6:NM_020812:exon24:c.G2945A:p.R982H Score=489;Name=lod=129 0.12 187 24 0.114 223 0 0.000 1.49247356648401403e-08 0.625 --- 180,156,24,0.133 195,194,0,0.000 7.992 8.056 chr19 11517260 11517260 C T exonic RGL3 synonymous SNV RGL3:NM_001035223:exon7:c.G831A:p.S277S,RGL3:NM_001161616:exon7:c.G831A:p.S277S Score=518;Name=lod=170 0 157 20 0.113 189 1 0.005 3.64063877059515944e-06 0.550 1.000 162,144,17,0.106 168,167,1,0.006 4.425 8.566 chr19 12126128 12126128 C T exonic ZNF433 synonymous SNV ZNF433:NM_001080411:exon4:c.G1554A:p.S518S 0.000308 0.0005 rs79356451 131 34 0.206 159 0 0.000 2.09951007746476061e-11 0.471 --- 145,112,32,0.222 142,142,0,0.000 10.167 11.456 chr19 12298079 12298079 C T exonic ZNF136 stopgain ZNF136:NM_003437:exon4:c.C886T:p.R296X 1 0.968087 C 0.901224 NA 0.731351 NA 1.0 NA 1.0 D 0.484 166 32 0.162 181 0 0.000 2.68763869769777369e-10 0.500 --- 169,141,28,0.166 158,158,0,0.000 8.487 14.808 chr19 12969204 12969204 C T exonic MAST1 nonsynonymous SNV MAST1:NM_014975:exon11:c.C1106T:p.P369L Score=346;Name=lod=34 0 0.998028 C 0.99 D 0.958 D 0.999999 D 0.779953 NA 4.4 101 14 0.122 97 0 0.000 0.000140108751623611061 0.500 --- 104,90,14,0.135 81,81,0,0.000 3.500 9.865 chr19 13409517 13409517 G A exonic CACNA1A nonsynonymous SNV CACNA1A:NM_001127221:exon19:c.C2933T:p.A978V,CACNA1A:NM_001127222:exon19:c.C2930T:p.A977V 0.26 157 37 0.191 180 0 0.000 4.75788854874170034e-12 0.595 --- 163,132,31,0.190 157,157,0,0.000 9.648 8.791 chr19 13409904 13409904 C T exonic CACNA1A nonsynonymous SNV CACNA1A:NM_001127221:exon19:c.G2546A:p.R849H,CACNA1A:NM_001127222:exon19:c.G2543A:p.R848H Score=601;Name=lod=371 0.14 182 43 0.191 212 0 0.000 4.91278269476707307e-14 0.419 --- 192,157,35,0.182 178,178,0,0.000 10.662 60 chr19 13873677 13873677 G T exonic CCDC130 nonsynonymous SNV CCDC130:NM_030818:exon10:c.G986T:p.R329L 0.34 0.24602 N 0.69 T 0.792 P 0.105084 N 0.007677 N -0.103 145 31 0.176 176 0 0.000 2.18784498900265027e-10 0.387 --- 158,131,27,0.171 152,152,0,0.000 8.300 14.875 chr19 14001253 14001253 G A exonic C19orf57 nonsynonymous SNV C19orf57:NM_024323:exon6:c.C416T:p.A139V 0 0.978174 C 1.0 D 0.195 P 0.96959 N 0.375452 N 1.77 131 35 0.211 158 0 0.000 1.10434775709357904e-11 0.257 --- 151,117,33,0.220 134,133,0,0.000 9.716 60 chr19 14001255 14001255 G A exonic C19orf57 synonymous SNV C19orf57:NM_024323:exon6:c.C414T:p.S138S 0.000155 120 41 0.255 152 0 0.000 9.02465438158790038e-14 0.244 --- 148,109,39,0.264 128,128,0,0.000 11.687 60 chr19 14020686 14020686 C T exonic CC2D1A synonymous SNV CC2D1A:NM_017721:exon2:c.C111T:p.D37D 81 31 0.277 156 0 0.000 1.10645177106530779e-13 0.516 --- 86,64,22,0.256 121,121,0,0.000 9.168 60 chr19 14043656 14043656 G A exonic PODNL1 synonymous SNV PODNL1:NM_001146255:exon6:c.C1128T:p.V376V,PODNL1:NM_001146254:exon8:c.C1395T:p.V465V,PODNL1:NM_024825:exon8:c.C1401T:p.V467V 216 24 0.100 199 0 0.000 3.78814535638918671e-07 0.542 --- 202,181,21,0.104 169,169,0,0.000 5.569 6.278 chr19 14093024 14093024 C T exonic RFX1 nonsynonymous SNV RFX1:NM_002918:exon5:c.G530A:p.R177H Score=452;Name=lod=92 0.0005 ID=COSM252777;OCCURENCE=1(ovary) rs116768203 0.44 0.972076 C 0.49 T 0.0010 B 0.998607 N 0.102054 N 3.64 65 12 0.156 74 0 0.000 0.000313355577030946382 0.250 --- 61,51,10,0.164 66,66,0,0.000 3.365 5.779 chr19 14273599 14273599 G A exonic LPHN1 synonymous SNV LPHN1:NM_014921:exon5:c.C1014T:p.R338R,LPHN1:NM_001008701:exon6:c.C1029T:p.R343R Score=516;Name=lod=167 ID=COSM1390917;OCCURENCE=1(large_intestine) 132 43 0.246 171 0 0.000 1.33548402850311645e-14 0.558 --- 148,113,35,0.236 150,150,0,0.000 11.636 60 chr19 14501813 14501813 G A exonic CD97 nonsynonymous SNV CD97:NM_001025160:exon4:c.G268A:p.D90N,CD97:NM_001784:exon4:c.G268A:p.D90N,CD97:NM_078481:exon4:c.G268A:p.D90N 0.000154 0.66 0.001023 N 0.68 T 0.016 B 0.569503 NA 1.75E-4 N -7.28 144 38 0.209 200 0 0.000 6.09190809049149749e-14 0.579 --- 152,118,33,0.219 165,164,0,0.000 11.425 60 chr19 14583409 14583409 A C exonic PTGER1 nonsynonymous SNV PTGER1:NM_000955:exon3:c.T1172G:p.L391R Score=420;Name=lod=68 0.01 0.997607 C 1.0 D 0.643555 NA 0.999139 N 0.361681 N 4.14 222 48 0.178 268 0 0.000 7.23447116168428475e-16 0.500 --- 238,194,42,0.178 221,221,0,0.000 12.876 15.955 chr19 14828492 14828492 G A exonic ZNF333 nonsynonymous SNV ZNF333:NM_032433:exon11:c.G847A:p.A283T 0.37 0.809467 N 0.31 T 0.0020 B 0.804677 NA 0.001302 N 1.12 63 15 0.192 84 0 0.000 8.02288852099671231e-06 0.533 --- 61,50,11,0.180 73,73,0,0.000 3.993 11.152 chr19 14876569 14876569 C T exonic EMR2 nonsynonymous SNV EMR2:NM_001271052:exon7:c.G682A:p.V228I,EMR2:NM_013447:exon8:c.G682A:p.V228I 0.000309 0.29 0.177816 N 0.87 T 0.0030 B 0.639238 NA 0.20463 NA -1.12 240 40 0.143 211 0 0.000 5.71131843747875183e-11 0.350 --- 281,241,40,0.142 213,213,0,0.000 10.268 11.605 chr19 14938706 14938706 G A exonic OR7A5 synonymous SNV OR7A5:NM_017506:exon1:c.C348T:p.S116S 154 46 0.230 184 0 0.000 1.03311337855896443e-14 0.457 --- 173,135,37,0.215 157,157,0,0.000 11.314 13.861 chr19 14952523 14952523 T G exonic OR7A10 nonsynonymous SNV OR7A10:NM_001005190:exon1:c.A167C:p.H56P Score=387;Name=lod=50 0 0.984935 C 1.0 D 0.996 D 0.999306 U 0.010462 N 2.67 163 21 0.114 224 0 0.000 2.81524905066990514e-08 0.000 --- 184,148,36,0.196 179,177,2,0.011 8.964 11.677 chr19 15303232 15303232 G A exonic NOTCH3 nonsynonymous SNV NOTCH3:NM_000435:exon3:c.C296T:p.A99V Score=295;Name=lod=21 0.53 0.999236 C 0.7 T 0.289 P 0.856028 NA 8.14E-4 N 3.66 200 36 0.153 163 0 0.000 2.41469558526609769e-09 0.500 --- 191,162,29,0.152 140,140,0,0.000 7.061 11.532 chr19 15366114 15366114 G A exonic BRD4 nonsynonymous SNV BRD4:NM_014299:exon10:c.C2041T:p.P681S,BRD4:NM_058243:exon10:c.C2041T:p.P681S Score=570;Name=lod=276 0.01 0.989359 C 0.97 D 0.651 P 0.999857 D 0.075465 N 3.82 138 17 0.110 164 0 0.000 2.9125958724065649e-06 0.765 --- 137,123,14,0.102 147,147,0,0.000 4.589 6.864 chr19 16532163 16532163 G A exonic EPS15L1 nonsynonymous SNV EPS15L1:NM_001258374:exon10:c.C917T:p.S306L,EPS15L1:NM_001258375:exon10:c.C917T:p.S306L,EPS15L1:NM_001258376:exon10:c.C917T:p.S306L,EPS15L1:NM_021235:exon10:c.C917T:p.S306L Score=571;Name=lod=280 0 0.998497 C 1.0 D 0.995 D 1.0 D 0.999937 D 4.22 148 21 0.124 168 0 0.000 4.91984147150898748e-07 0.667 --- 139,118,21,0.151 133,133,0,0.000 6.334 6.089 chr19 16611879 16611879 C T exonic C19orf44 synonymous SNV C19orf44:NM_032207:exon2:c.C276T:p.A92A 0.000077 157 43 0.215 195 0 0.000 2.07176755744332391e-14 0.465 --- 167,130,37,0.222 166,165,0,0.000 11.805 60 chr19 16982087 16982087 C T exonic SIN3B nonsynonymous SNV SIN3B:NM_015260:exon15:c.C2566T:p.R856W Score=596;Name=lod=354 ID=COSM1225757;OCCURENCE=1(large_intestine) 0 0.997935 C 1.0 D 1.0 D 1.0 D 0.999485 D 3.48 103 13 0.112 152 0 0.000 1.25168313060549586e-05 0.385 --- 107,94,12,0.113 126,126,0,0.000 4.237 3.88 chr19 17000391 17000391 G A exonic F2RL3 synonymous SNV F2RL3:NM_003950:exon2:c.G117A:p.T39T 0.000077 84 19 0.184 101 0 0.000 1.54537025174240486e-06 0.789 --- 96,78,17,0.179 83,83,0,0.000 4.921 9.282 chr19 17003934 17003934 G T exonic CPAMD8 synonymous SNV CPAMD8:NM_015692:exon42:c.C5784A:p.T1928T 36 9 0.200 46 0 0.000 0.00113064462748450654 0.889 --- 41,33,8,0.195 40,40,0,0.000 2.271 7.129 chr19 17166745 17166745 G A exonic HAUS8 nonsynonymous SNV HAUS8:NM_001011699:exon9:c.C710T:p.T237M,HAUS8:NM_033417:exon9:c.C713T:p.T238M 0.000231 rs200201378 0.09 0.05 N 0.72 T 0.943 D 0.410774 N 0.007906 N -6.84 63 19 0.232 116 0 0.000 1.35046403315515969e-08 0.474 --- 62,48,14,0.226 82,82,0,0.000 5.530 11.193 chr19 17436190 17436190 G A exonic ANO8 synonymous SNV ANO8:NM_020959:exon17:c.C2667T:p.H889H Score=628;Name=lod=475 161 32 0.166 181 0 0.000 1.82021142051075106e-10 0.344 --- 161,135,26,0.161 158,158,0,0.000 7.993 8.866 chr19 17728637 17728637 C T exonic UNC13A nonsynonymous SNV UNC13A:NM_001080421:exon39:c.G4432A:p.V1478M Score=650;Name=lod=583 ID=COSM1391498,COSM1391499;OCCURENCE=1(large_intestine) 0.01 187 34 0.154 225 0 0.000 1.07065984845459363e-11 0.412 --- 182,156,26,0.143 180,180,0,0.000 7.941 7.816 chr19 18092728 18092728 C T exonic KCNN1 nonsynonymous SNV KCNN1:NM_002248:exon5:c.C709T:p.R237C Score=631;Name=lod=488 ID=COSM182138;OCCURENCE=1(large_intestine) 0 182 48 0.209 163 0 0.000 8.86551506093771758e-13 0.438 --- 196,156,40,0.204 139,139,0,0.000 10.037 13.996 chr19 18561564 18561564 G A exonic ELL synonymous SNV ELL:NM_006532:exon8:c.C1188T:p.P396P Score=393;Name=lod=53 301 73 0.195 357 0 0.000 1.28399308787258039e-23 0.521 --- 326,260,66,0.202 313,313,0,0.000 20.830 15.955 chr19 18964116 18964116 G A exonic UPF1 synonymous SNV UPF1:NM_002911:exon8:c.G1113A:p.A371A 0.000077 120 19 0.137 127 0 0.000 2.71972413193800296e-06 0.368 --- 113,95,18,0.159 106,105,0,0.000 5.352 10.097 chr19 19010494 19010494 G A exonic COPE synonymous SNV COPE:NM_199442:exon9:c.C768T:p.S256S,COPE:NM_199444:exon9:c.C765T:p.S255S,COPE:NM_007263:exon10:c.C921T:p.S307S Score=407;Name=lod=60 0.000154 0.0005 rs149854108 100 23 0.187 155 0 0.000 2.03126117913417716e-09 0.522 --- 99,79,19,0.194 123,123,0,0.000 7.175 13.0 chr19 19390076 19390076 C T exonic SUGP1 nonsynonymous SNV SUGP1:NM_172231:exon10:c.G1474A:p.E492K Score=612;Name=lod=408 0.0005 rs150298383 0.01 0.963778 C 0.97 D 0.742 P 0.999677 D 0.986179 D 3.49 116 33 0.221 160 0 0.000 4.47866002999923686e-12 0.394 --- 135,107,28,0.207 147,147,0,0.000 9.664 5.042 chr19 19744830 19744830 G A exonic GMIP nonsynonymous SNV GMIP:NM_016573:exon19:c.C2254T:p.H752Y 0.3 0.107887 N 0.74 T 0.016 B 0.81973 N 0.096763 N -5.4 98 29 0.228 123 1 0.008 1.11311226210184473e-08 0.621 0.000 106,85,21,0.198 103,101,1,0.010 5.368 60 chr19 19760619 19760619 G A exonic ATP13A1 synonymous SNV ATP13A1:NM_020410:exon18:c.C2466T:p.T822T 164 44 0.212 232 0 0.000 3.30820200568816157e-16 0.432 --- 164,129,35,0.213 181,181,0,0.000 12.228 14.593 chr19 19822199 19822199 G A exonic ZNF14 stopgain ZNF14:NM_021030:exon4:c.C1891T:p.R631X ID=COSM1233607;OCCURENCE=1(large_intestine) 1 0.138347 N 0.829824 NA 0.529973 NA 0.760716 NA 0.926767 D -3.14 163 27 0.142 166 0 0.000 2.96476056752899496e-08 0.519 --- 159,137,22,0.138 141,141,0,0.000 6.360 11.705 chr19 20044141 20044141 A G exonic ZNF93 nonsynonymous SNV ZNF93:NM_031218:exon4:c.A377G:p.H126R 0.02 0.145536 N 0.94 T 0.999 D 0.719198 NA 0.487608 NA -0.578 135 22 0.140 173 0 0.000 3.4912327438197465e-08 0.364 --- 119,101,18,0.151 148,147,0,0.000 6.621 14.875 chr19 20307872 20307872 G A exonic ZNF486 nonsynonymous SNV ZNF486:NM_052852:exon4:c.G353A:p.G118D 0.27 101 15 0.129 124 0 0.000 1.11443367395048851e-05 0.467 --- 97,86,10,0.104 102,100,0,0.000 3.209 11.833 chr19 21239967 21239967 G A exonic ZNF430 nonsynonymous SNV ZNF430:NM_001172671:exon5:c.G850A:p.G284R,ZNF430:NM_025189:exon5:c.G853A:p.G285R Score=393;Name=lod=53 0.05 0.905165 N 0.91 T 0.057 B 0.869702 NA 0.414282 N 0.936 142 28 0.165 165 0 0.000 2.39683410683995856e-09 0.500 --- 147,122,25,0.170 152,150,0,0.000 8.125 60 chr19 22942379 22942379 A G exonic ZNF99 nonsynonymous SNV ZNF99:NM_001080409:exon4:c.T332C:p.L111S Score=0.910164;Name=chr19:22485878 0.12 79 16 0.168 108 0 0.000 2.54710094127097278e-06 0.625 --- 76,62,14,0.184 89,89,0,0.000 5.021 9.287 chr19 23542399 23542399 G T exonic ZNF91 nonsynonymous SNV ZNF91:NM_003430:exon4:c.C3382A:p.H1128N Score=371;Name=lod=43 0 0.948243 N 0.900259 NA 0.99 D 0.871735 NA 0.012514 N 1.22 95 27 0.221 147 1 0.007 1.44308560683957045e-09 0.630 0.000 105,83,22,0.210 123,122,1,0.008 6.832 13.509 chr19 23544836 23544836 A T exonic ZNF91 synonymous SNV ZNF91:NM_003430:exon4:c.T945A:p.I315I 295 34 0.103 412 0 0.000 3.78151970699690968e-13 0.382 --- 293,263,30,0.102 354,352,2,0.006 8.251 6.721 chr19 31039824 31039824 G A exonic ZNF536 nonsynonymous SNV ZNF536:NM_014717:exon4:c.G3298A:p.V1100M Score=387;Name=lod=50 ID=COSM186438;OCCURENCE=1(large_intestine) rs200453890 1 0.896731 N 0.3 T 0.0 B 0.986424 N 0.017984 N -1.63 166 45 0.213 240 2 0.008 4.36157503270545305e-14 0.600 0.500 193,150,42,0.219 213,212,1,0.005 13.354 15.0 chr19 33135240 33135240 A G exonic ANKRD27 synonymous SNV ANKRD27:NM_032139:exon5:c.T516C:p.R172R Score=533;Name=lod=196 0.01 93 12 0.114 131 0 0.000 4.16169756933887001e-05 0.750 --- 96,84,11,0.116 108,108,0,0.000 3.769 4.196 chr19 33605251 33605251 G A exonic GPATCH1 nonsynonymous SNV GPATCH1:NM_018025:exon15:c.G2122A:p.E708K Score=569;Name=lod=273 0.83 0.999274 C 0.17 T 0.011 B 0.9742 N 5.54E-4 N 4.73 34 11 0.244 66 0 0.000 2.14491599665307589e-05 0.545 --- 35,27,8,0.229 47,47,0,0.000 3.180 9.907 chr19 33623312 33623312 G A exonic WDR88 synonymous SNV WDR88:NM_173479:exon1:c.G237A:p.P79P 213 49 0.187 290 0 0.000 1.03076170956083026e-17 0.429 --- 217,176,41,0.189 246,246,0,0.000 14.455 60 chr19 34302298 34302298 C T exonic KCTD15 synonymous SNV KCTD15:NM_001129994:exon6:c.C534T:p.G178G,KCTD15:NM_001129995:exon6:c.C534T:p.G178G,KCTD15:NM_024076:exon6:c.C534T:p.G178G 183 43 0.190 227 0 0.000 1.12978504832179321e-14 0.558 --- 182,147,35,0.192 192,192,0,0.000 11.754 15.955 chr19 35551550 35551550 C T exonic HPN stopgain HPN:NM_182983:exon9:c.C640T:p.R214X,HPN:NM_002151:exon10:c.C640T:p.R214X 1 0.902058 N 0.896049 NA 0.719403 NA 0.999721 D 1.0 A 2.11 145 29 0.167 173 0 0.000 1.0436480658404815e-09 0.483 --- 152,126,25,0.166 146,146,0,0.000 7.661 12.829 chr19 35617264 35617264 G A exonic LGI4 synonymous SNV LGI4:NM_139284:exon8:c.C1209T:p.I403I Score=503;Name=lod=147 0 162 42 0.206 185 0 0.000 2.86025808497999066e-13 0.571 --- 175,139,36,0.206 161,161,0,0.000 11.021 60 chr19 35769855 35769855 G T exonic USF2 stopgain USF2:NM_207291:exon8:c.G628T:p.G210X,USF2:NM_003367:exon9:c.G829T:p.G277X Score=496;Name=lod=138 0 0.999609 C 0.903837 NA 0.735496 NA 1.0 D 1.0 A 4.69 163 33 0.168 189 0 0.000 6.31363074305944392e-11 0.485 --- 177,148,29,0.164 169,169,0,0.000 8.882 10.542 chr19 36053402 36053402 C T exonic ATP4A nonsynonymous SNV ATP4A:NM_000704:exon4:c.G355A:p.A119T Score=576;Name=lod=291 0 0.993877 C 1.0 D 0.033 B 0.890541 N 0.822381 D 3.16 213 36 0.145 250 0 0.000 3.45334237618601651e-12 0.583 --- 196,164,32,0.163 197,197,0,0.000 10.268 10.004 chr19 36297460 36297460 C T exonic PRODH2 synonymous SNV PRODH2:NM_021232:exon8:c.G1101A:p.A367A 140 33 0.191 216 0 0.000 3.77158373787250659e-13 0.606 --- 152,119,33,0.217 190,189,0,0.000 12.514 60 chr19 36367519 36367519 G A splicing APLP1 NM_005166:exon11:c.1444+1G>A,NM_001024807:exon11:c.1444+1G>A Score=506;Name=lod=152 rs112935271 113 16 0.124 125 0 0.000 1.90696717310415959e-05 0.312 --- 104,89,15,0.144 94,94,0,0.000 4.341 4.885 chr19 36515515 36515515 G A exonic CLIP3 nonsynonymous SNV CLIP3:NM_001199570:exon6:c.C701T:p.P234L,CLIP3:NM_015526:exon7:c.C701T:p.P234L Score=472;Name=lod=110 0 0.993777 C 1.0 D 0.958 D 1.0 D 0.99331 D 4.17 103 27 0.208 127 0 0.000 3.43424541107456871e-09 0.333 --- 105,81,23,0.221 111,110,0,0.000 7.817 11.267 chr19 37117265 37117265 C T exonic ZNF382 nonsynonymous SNV ZNF382:NM_001256838:exon5:c.C463T:p.P155S,ZNF382:NM_032825:exon5:c.C466T:p.P156S Score=340;Name=lod=32 0.61 0.976342 C 0.3 T 0.946 D 0.999641 D 0.105382 N 3.16 91 11 0.108 119 0 0.000 0.000149096969789349966 0.364 --- 94,86,8,0.085 108,108,0,0.000 2.730 6.329 chr19 37310389 37310389 T C exonic ZNF790 nonsynonymous SNV ZNF790:NM_001242800:exon5:c.A857G:p.E286G,ZNF790:NM_001242801:exon5:c.A857G:p.E286G,ZNF790:NM_001242802:exon5:c.A857G:p.E286G,ZNF790:NM_206894:exon5:c.A857G:p.E286G Score=414;Name=lod=64 0.01 0.862605 N 0.97 D 0.971 D 0.843661 NA 0.005944 N 1.04 123 16 0.115 132 0 0.000 2.08096948120867873e-05 0.562 --- 124,111,13,0.105 119,118,0,0.000 3.737 8.995 chr19 37487916 37487916 T C exonic ZNF568 synonymous SNV ZNF568:NM_001204839:exon9:c.T1131C:p.H377H,ZNF568:NM_001204838:exon10:c.T1323C:p.H441H Score=325;Name=lod=28 150 17 0.102 149 0 0.000 1.47459667825731279e-05 0.471 --- 138,124,14,0.101 125,125,0,0.000 3.974 9.51 chr19 37642623 37642623 G T exonic ZNF585A synonymous SNV ZNF585A:NM_152655:exon6:c.C2013A:p.A671A,ZNF585A:NM_199126:exon6:c.C2013A:p.A671A Score=405;Name=lod=59 221 47 0.175 304 1 0.003 8.31115512886655516e-16 0.574 1.000 223,181,42,0.188 258,257,1,0.004 13.603 60 chr19 38057104 38057104 G A exonic ZNF571 nonsynonymous SNV ZNF571:NM_016536:exon4:c.C226T:p.R76C rs201847427 0.19 0.205102 N 0.94 T 0.0010 B 0.614478 NA 1.19E-4 N -0.435 106 15 0.124 156 0 0.000 2.39478237797072132e-06 0.467 --- 98,86,11,0.113 131,130,0,0.000 4.211 13.75 chr19 38092005 38092005 C T exonic ZNF540 synonymous SNV ZNF540:NM_001172225:exon4:c.C231T:p.P77P,ZNF540:NM_152606:exon4:c.C231T:p.P77P 0.000154 rs140262859 92 17 0.156 129 0 0.000 8.26156269307493164e-07 0.529 --- 78,65,13,0.167 104,104,0,0.000 5.053 15.353 chr19 38907779 38907779 C T exonic RASGRP4 synonymous SNV RASGRP4:NM_001146202:exon8:c.G825A:p.T275T,RASGRP4:NM_001146203:exon8:c.G867A:p.T289T,RASGRP4:NM_001146204:exon8:c.G867A:p.T289T,RASGRP4:NM_001146205:exon8:c.G765A:p.T255T,RASGRP4:NM_170604:exon8:c.G867A:p.T289T Score=521;Name=lod=174 0.000078 46 15 0.246 85 0 0.000 6.65062729027587663e-07 0.533 --- 49,37,12,0.245 69,69,0,0.000 4.966 13.641 chr19 38959747 38959747 G A exonic RYR1 nonsynonymous SNV RYR1:NM_000540:exon26:c.G3523A:p.E1175K,RYR1:NM_001042723:exon26:c.G3523A:p.E1175K Score=412;Name=lod=63 ID=COSM1393387;OCCURENCE=1(large_intestine) 0.02 0.998159 C 1.0 D 0.838 P 0.99806 U 0.001415 N 3.43 113 19 0.144 144 0 0.000 3.9630012596758137e-07 0.316 --- 103,89,14,0.136 119,119,0,0.000 4.889 10.207 chr19 38976332 38976332 C T exonic RYR1 synonymous SNV RYR1:NM_000540:exon34:c.C5037T:p.R1679R,RYR1:NM_001042723:exon34:c.C5037T:p.R1679R Score=517;Name=lod=169 180 31 0.147 199 0 0.000 4.09178371977325475e-10 0.548 --- 175,146,28,0.161 166,166,0,0.000 8.554 10.977 chr19 39052029 39052029 C T exonic RYR1 nonsynonymous SNV RYR1:NM_001042723:exon89:c.C12544T:p.R4182C,RYR1:NM_000540:exon90:c.C12559T:p.R4187C Score=649;Name=lod=580 0 0.994259 C 1.0 D 0.854 D 0.99992 U 0.374693 N 2.67 165 33 0.167 189 0 0.000 7.11876911302668281e-11 0.394 --- 166,140,26,0.157 152,152,0,0.000 7.747 8.001 chr19 39232496 39232496 G A exonic CAPN12 nonsynonymous SNV CAPN12:NM_144691:exon4:c.C481T:p.R161C 0.04 0.17099 N 1.0 D 0.0010 B 0.007545 N 0.566975 D -3.5 151 27 0.152 176 0 0.000 5.16322323340328517e-09 0.444 --- 147,127,20,0.136 137,137,0,0.000 5.924 8.193 chr19 39297204 39297204 T C exonic LGALS4 nonsynonymous SNV LGALS4:NM_006149:exon4:c.A371G:p.Y124C 0 0.070141 N 1.0 D 0.993 D 0.998838 N 0.832813 D -2.04 99 12 0.108 140 0 0.000 3.9457931627784004e-05 0.333 --- 99,87,11,0.112 115,115,0,0.000 3.848 5.748 chr19 39374378 39374378 G A exonic SIRT2 stopgain SIRT2:NM_001193286:exon8:c.C409T:p.R137X,SIRT2:NM_030593:exon8:c.C409T:p.R137X,SIRT2:NM_012237:exon9:c.C520T:p.R174X Score=498;Name=lod=141 0 rs200871138 1 0.999332 C 0.903815 NA 0.73545 NA 0.999999 D 1.0 A 3.73 122 24 0.164 141 0 0.000 4.59799136034962018e-08 0.375 --- 126,104,22,0.175 119,119,0,0.000 6.680 8.614 chr19 39398299 39398299 C T exonic NFKBIB synonymous SNV NFKBIB:NM_001243116:exon5:c.C711T:p.G237G,NFKBIB:NM_002503:exon5:c.C969T:p.G323G Score=349;Name=lod=35 231 54 0.189 249 0 0.000 2.6753900352264938e-16 0.500 --- 250,202,48,0.192 214,214,0,0.000 13.688 60 chr19 39423063 39423063 G A exonic MRPS12 nonsynonymous SNV MRPS12:NM_021107:exon2:c.G140A:p.R47Q,MRPS12:NM_033362:exon3:c.G140A:p.R47Q,MRPS12:NM_033363:exon3:c.G140A:p.R47Q 0.33 0.006368 N 0.92 T 0.188 P 0.0158 N 0.034903 N -10.8 186 44 0.191 266 0 0.000 1.80951155137370532e-16 0.636 --- 197,157,39,0.199 218,218,0,0.000 13.624 15.654 chr19 39663884 39663884 A G exonic PAK4 synonymous SNV PAK4:NM_001014832:exon3:c.A531G:p.K177K,PAK4:NM_005884:exon4:c.A531G:p.K177K,PAK4:NM_001014831:exon5:c.A531G:p.K177K Score=497;Name=lod=140 134 33 0.198 170 0 0.000 1.47668033046467098e-11 0.273 --- 149,121,27,0.182 151,150,0,0.000 8.777 11.915 chr19 39880279 39880279 C G splicing PAF1 NM_001256826:exon4:c.262+1G>C,NM_019088:exon5:c.292+1G>C Score=439;Name=lod=81 108 25 0.188 123 0 0.000 2.6150010651823882e-08 0.360 --- 113,92,21,0.186 108,108,0,0.000 6.422 11.946 chr19 39961097 39961097 C T exonic SUPT5H synonymous SNV SUPT5H:NM_001130825:exon17:c.C1599T:p.G533G,SUPT5H:NM_003169:exon17:c.C1611T:p.G537G,SUPT5H:NM_001111020:exon18:c.C1611T:p.G537G,SUPT5H:NM_001130824:exon18:c.C1611T:p.G537G Score=616;Name=lod=427 188 52 0.217 208 0 0.000 7.47232448893774479e-16 0.442 --- 193,151,41,0.214 167,167,0,0.000 12.073 60 chr19 40328362 40328362 C T exonic FBL nonsynonymous SNV FBL:NM_001436:exon6:c.G671A:p.R224H Score=504;Name=lod=149 0.000077 0 0.998476 C 1.0 D 0.999 D 1.0 D 0.999888 D 4.97 84 10 0.106 112 0 0.000 0.000297634066124781552 0.600 --- 77,67,10,0.130 89,89,0,0.000 3.481 5.048 chr19 40398418 40398418 T C exonic FCGBP synonymous SNV FCGBP:NM_003890:exon14:c.A6549G:p.S2183S Score=0.986349;Name=chr19:40367998 167 23 0.121 254 0 0.000 1.48150616317687372e-09 0.391 --- 110,96,14,0.127 145,144,0,0.000 5.305 7.104 chr19 40408534 40408534 C T exonic FCGBP synonymous SNV FCGBP:NM_003890:exon8:c.G4305A:p.P1435P Score=0.945706;Name=chr19:40384312 310 48 0.134 351 1 0.003 3.76919991811062912e-14 0.521 1.000 313,269,44,0.141 303,302,1,0.003 12.160 7.595 chr19 40581207 40581207 T A exonic ZNF780A nonsynonymous SNV ZNF780A:NM_001010880:exon6:c.A1142T:p.N381I,ZNF780A:NM_001142577:exon6:c.A1145T:p.N382I,ZNF780A:NM_001142578:exon6:c.A1142T:p.N381I Score=340;Name=lod=32 0.02 0.202754 N 0.92 T 0.992 D 0.665851 NA 0.004667 N -2.21 217 26 0.107 258 0 0.000 3.26823647566686737e-09 0.423 --- 199,180,19,0.095 220,220,0,0.000 6.349 12.084 chr19 40929217 40929217 C T exonic SERTAD1 synonymous SNV SERTAD1:NM_013376:exon2:c.G237A:p.A79A 162 48 0.229 176 0 0.000 1.4976514329703543e-14 0.479 --- 182,142,40,0.220 153,153,0,0.000 11.317 14.593 chr19 41063139 41063139 C T exonic SPTBN4 nonsynonymous SNV SPTBN4:NM_025213:exon9:c.C1528T:p.R510W,SPTBN4:NM_020971:exon26:c.C5500T:p.R1834W Score=581;Name=lod=307 0.01 0.996172 C 0.94 T 0.035 B 0.999718 D 0.978697 D 3.58 195 43 0.181 233 0 0.000 3.10089152067321062e-14 0.419 --- 208,168,40,0.192 194,194,0,0.000 12.298 15.477 chr19 41383816 41383816 G A exonic CYP2A7 nonsynonymous SNV CYP2A7:NM_030589:exon5:c.C761T:p.T254M,CYP2A7:NM_000764:exon6:c.C914T:p.T305M Score=313;Name=lod=25 Score=0.962735;Name=chr19:41336556 0.000077 ID=COSM1564412;OCCURENCE=1(large_intestine) 0 0.987089 C 1.0 D 0.998 D 1.0 U 0.789205 NA 2.12 158 36 0.186 199 0 0.000 1.49855834804364041e-12 0.556 --- 158,130,28,0.177 166,166,0,0.000 9.316 60 chr19 41762386 41762386 C T exonic AXL nonsynonymous SNV AXL:NM_001699:exon17:c.C2039T:p.A680V,AXL:NM_021913:exon18:c.C2066T:p.A689V Score=536;Name=lod=202 0 0.998795 C 1.0 D 0.998 D 1.0 D 0.785217 D 4.66 133 27 0.169 156 0 0.000 4.72520972144859124e-09 0.704 --- 131,108,23,0.176 128,128,0,0.000 7.070 8.391 chr19 41798334 41798334 C T exonic HNRNPUL1 nonsynonymous SNV HNRNPUL1:NM_007040:exon8:c.C1184T:p.P395L,HNRNPUL1:NM_144732:exon8:c.C884T:p.P295L Score=580;Name=lod=304 0.02 0.999302 C 0.98 D 0.95 D 0.999992 D 0.53205 D 5.69 122 17 0.122 133 0 0.000 9.63514360474434151e-06 0.647 --- 116,101,15,0.129 112,112,0,0.000 4.412 6.493 chr19 42265241 42265241 A C exonic CEACAM6 nonsynonymous SNV CEACAM6:NM_002483:exon3:c.A509C:p.E170A 0.09 0.969872 C 0.88 T 0.744 P 0.864125 NA 2.46E-4 N 1.28 381 91 0.193 473 0 0.000 2.98316626886774637e-30 0.549 --- 380,307,73,0.192 356,356,0,0.000 22.395 60 chr19 42410144 42410144 G A exonic ARHGEF1 nonsynonymous SNV ARHGEF1:NM_198977:exon25:c.G2359A:p.E787K,ARHGEF1:NM_004706:exon26:c.G2458A:p.E820K,ARHGEF1:NM_199002:exon26:c.G2503A:p.E835K Score=321;Name=lod=27 0.000077 ID=COSM418221;OCCURENCE=1(urinary_tract) 0 0.972649 C 0.98 D 0.931 D 0.988514 N 0.068145 N 2.65 108 33 0.234 144 0 0.000 9.62485479991351975e-12 0.364 --- 117,87,30,0.256 117,117,0,0.000 9.657 12.899 chr19 42791603 42791603 T C splicing CIC NM_015125:exon4:c.582+2T>C Score=634;Name=lod=505 177 67 0.275 252 0 0.000 1.08459507205393628e-23 0.567 --- 217,161,56,0.258 222,221,0,0.000 18.870 60 chr19 42793442 42793442 G A exonic CIC nonsynonymous SNV CIC:NM_015125:exon8:c.G1244A:p.R415Q Score=636;Name=lod=513 0.999465 C 0.95 T 0.963 D 0.886291 NA 0.039272 N 4.45 183 55 0.231 215 0 0.000 1.67078191193672545e-17 0.527 --- 194,150,44,0.227 170,170,0,0.000 13.108 11.394 chr19 42794555 42794555 G A exonic CIC synonymous SNV CIC:NM_015125:exon10:c.G1635A:p.S545S 181 42 0.188 202 0 0.000 3.58652604076552272e-13 0.357 --- 186,149,37,0.199 169,169,0,0.000 10.909 12.879 chr19 42801519 42801519 T C splicing PAFAH1B3 NM_001145940:exon7:c.409-2A>G,NM_002573:exon6:c.409-2A>G,NM_001145939:exon7:c.409-2A>G Score=454;Name=lod=93 86 15 0.149 92 0 0.000 4.32036350515350128e-05 0.267 --- 91,79,12,0.132 85,85,0,0.000 3.449 12.787 chr19 42914524 42914524 C T exonic LIPE nonsynonymous SNV LIPE:NM_005357:exon2:c.G1354A:p.D452N 0.14 0.997777 C 0.86 T 0.131 B 0.63306 N 0.053324 N 3.53 178 23 0.114 186 0 0.000 1.73120577587026995e-07 0.609 --- 168,150,18,0.107 151,151,0,0.000 5.157 11.477 chr19 42914567 42914567 C T exonic LIPE synonymous SNV LIPE:NM_005357:exon2:c.G1311A:p.R437R 161 36 0.183 185 0 0.000 8.70092911124486557e-12 0.389 --- 168,135,33,0.196 160,159,0,0.000 10.228 60 chr19 43429943 43429943 C T exonic PSG7 nonsynonymous SNV PSG7:NM_001206650:exon4:c.G859A:p.V287M Score=0.945142;Name=chr19:43228496 260 78 0.231 332 0 0.000 5.44437847325409891e-26 0.513 --- 293,224,69,0.235 281,281,0,0.000 22.070 14.523 chr19 43990941 43990941 C T exonic PHLDB3 nonsynonymous SNV PHLDB3:NM_198850:exon11:c.G1331A:p.R444H Score=463;Name=lod=102 rs199835163 0.13 94 18 0.161 139 0 0.000 2.16800986899633523e-07 0.444 --- 97,82,15,0.155 116,116,0,0.000 5.400 11.593 chr19 44384197 44384197 A T exonic ZNF404 nonsynonymous SNV ZNF404:NM_001033719:exon1:c.T92A:p.V31E Score=401;Name=lod=57 0 78 18 0.188 120 0 0.000 1.73172551126234125e-07 0.500 --- 76,63,13,0.171 95,95,0,0.000 4.848 12.987 chr19 44891798 44891798 A C exonic ZNF285 synonymous SNV ZNF285:NM_152354:exon4:c.T609G:p.P203P Score=0.946167;Name=chr19:44964806 147 33 0.183 172 0 0.000 5.99845838069986531e-11 0.576 --- 156,126,29,0.187 146,146,0,0.000 8.909 15.109 chr19 45649713 45649713 G T exonic PPP1R37 nonsynonymous SNV PPP1R37:NM_019121:exon12:c.G2059T:p.G687W 0.01 90 17 0.159 112 0 0.000 2.54640877302653797e-06 0.588 --- 86,73,13,0.151 84,84,0,0.000 3.822 11.237 chr19 45783846 45783846 G A exonic MARK4 nonsynonymous SNV MARK4:NM_001199867:exon12:c.G1130A:p.R377Q,MARK4:NM_031417:exon12:c.G1130A:p.R377Q Score=592;Name=lod=340 0.0009 rs35070611 0.11 0.99965 C 0.8 T 0.552 P 0.999999 D 0.986797 D 5.31 166 31 0.157 181 0 0.000 5.21296154276497219e-10 0.839 --- 183,148,33,0.182 152,152,0,0.000 9.340 4.899 chr19 45992740 45992740 G A exonic RTN2 nonsynonymous SNV RTN2:NM_206901:exon2:c.C85T:p.L29F,RTN2:NM_206900:exon5:c.C886T:p.L296F,RTN2:NM_005619:exon6:c.C1105T:p.L369F Score=504;Name=lod=149 0.09 0.999023 C 0.86 T 0.469 P 0.999747 D 0.999937 D 4.0 86 23 0.211 98 0 0.000 1.21871724792718705e-07 0.304 --- 87,69,18,0.207 79,79,0,0.000 5.398 10.812 chr19 46021045 46021045 G T exonic VASP nonsynonymous SNV VASP:NM_003370:exon2:c.G130T:p.A44S 1 0.854464 N 0.735027 NA 0.0070 B 0.972601 N 0.814838 D -0.519 224 63 0.220 261 0 0.000 5.75051665752718872e-20 0.587 --- 247,196,51,0.206 220,219,0,0.000 15.207 11.548 chr19 46308030 46308030 G A exonic RSPH6A nonsynonymous SNV RSPH6A:NM_030785:exon3:c.C1133T:p.T378M 0.000538 ID=COSM267366;OCCURENCE=1(large_intestine) rs138038020 0.35 0.129709 N 0.65 T 0.0 B 0.151213 N 0.007957 N -0.221 116 35 0.232 168 0 0.000 4.10712520522189071e-13 0.629 --- 138,105,32,0.234 146,146,0,0.000 11.000 60 chr19 46825135 46825135 G A exonic HIF3A nonsynonymous SNV HIF3A:NM_022462:exon9:c.G1040A:p.R347H,HIF3A:NM_152796:exon9:c.G1040A:p.R347H,HIF3A:NM_152794:exon10:c.G1241A:p.R414H,HIF3A:NM_152795:exon10:c.G1247A:p.R416H Score=498;Name=lod=141 0.000231 rs199670096 0 0.999533 C 0.98 D 0.974 D 0.995697 N 0.779936 NA 4.75 153 25 0.140 165 0 0.000 3.56665446372874938e-08 0.520 --- 144,124,19,0.133 129,129,0,0.000 5.519 11.805 chr19 46998620 46998620 C T exonic PNMAL2 nonsynonymous SNV PNMAL2:NM_020709:exon1:c.G103A:p.V35I 1 28 11 0.282 30 0 0.000 0.00159141482745954648 0.545 --- 39,29,10,0.256 29,29,0,0.000 2.444 8.457 chr19 47425372 47425372 G A exonic ARHGAP35 nonsynonymous SNV ARHGAP35:NM_004491:exon1:c.G3440A:p.R1147H Score=507;Name=lod=153 ID=COSM1394843,COSM1394842;OCCURENCE=1(large_intestine) 0.04 206 48 0.189 245 0 0.000 8.62047026573158149e-16 0.500 --- 219,178,40,0.183 214,214,0,0.000 12.570 11.664 chr19 47646765 47646765 G A exonic SAE1 nonsynonymous SNV SAE1:NM_001145713:exon2:c.G113A:p.R38Q,SAE1:NM_001145714:exon2:c.G113A:p.R38Q,SAE1:NM_005500:exon2:c.G113A:p.R38Q Score=498;Name=lod=141 0.04 0.994441 C 0.9 T 0.997 D 0.999998 N 0.773154 NA 3.88 44 6 0.120 59 0 0.000 0.0078471687203703789 0.833 --- 38,33,5,0.132 47,47,0,0.000 1.815 5.07 chr19 47735849 47735849 C T exonic BBC3 nonsynonymous SNV BBC3:NM_001127240:exon1:c.G11A:p.G4D,BBC3:NM_001127241:exon1:c.G11A:p.G4D,BBC3:NM_001127242:exon1:c.G11A:p.G4D 0 88 23 0.207 134 0 0.000 3.09021603330512421e-09 0.522 --- 93,73,20,0.215 109,109,0,0.000 7.272 60 chr19 47823962 47823962 C T exonic C5AR1 unknown UNKNOWN 1 0.976124 C 0.862198 NA 0.636445 NA 0.999761 U 0.679017 NA 3.85 141 16 0.102 159 0 0.000 9.19699940948097882e-06 0.438 --- 141,127,14,0.099 141,141,0,0.000 4.061 8.45 chr19 47844139 47844139 G A exonic C5AR2 nonsynonymous SNV C5AR2:NM_001271749:exon2:c.G83A:p.C28Y,C5AR2:NM_001271750:exon2:c.G83A:p.C28Y,C5AR2:NM_018485:exon2:c.G83A:p.C28Y 0.88 0.998836 C 0.94 T 0.998 D 0.200605 U 0.351071 NA 3.87 142 36 0.202 165 0 0.000 8.71695189695697321e-12 0.583 --- 141,114,27,0.191 134,134,0,0.000 8.331 12.202 chr19 48048152 48048152 G A exonic ZNF541 nonsynonymous SNV ZNF541:NM_001277075:exon3:c.C1634T:p.S545L Score=309;Name=lod=24 0 222 44 0.165 263 0 0.000 1.67453620793317973e-14 0.545 --- 225,188,37,0.164 232,232,0,0.000 12.097 60 chr19 48876969 48876969 C T exonic SYNGR4 nonsynonymous SNV SYNGR4:NM_012451:exon3:c.C289T:p.R97C Score=432;Name=lod=76 0.0009 rs150802614 0 0.955025 C 1.0 D 0.998 D 0.998613 N 0.618809 D 1.81 167 45 0.212 186 0 0.000 4.59945691244018027e-14 0.356 --- 181,143,38,0.210 154,154,0,0.000 11.005 11.547 chr19 48922852 48922852 T G exonic GRIN2D synonymous SNV GRIN2D:NM_000836:exon9:c.T1872G:p.G624G Score=612;Name=lod=410 67 9 0.118 69 0 0.000 0.00328550651712167347 0.778 --- 69,61,8,0.116 62,62,0,0.000 2.168 6.408 chr19 49090629 49090629 C T exonic SULT2B1 nonsynonymous SNV SULT2B1:NM_004605:exon2:c.C313T:p.R105C,SULT2B1:NM_177973:exon3:c.C358T:p.R120C Score=381;Name=lod=47 0 0.998234 C 1.0 D 1.0 D 0.973378 N 0.980691 D 4.84 155 34 0.180 137 0 0.000 2.63589497420569976e-09 0.500 --- 151,123,28,0.185 112,112,0,0.000 7.218 14.654 chr19 49113245 49113245 G A exonic FAM83E nonsynonymous SNV FAM83E:NM_017708:exon3:c.C646T:p.R216C Score=265;Name=lod=16 0 0.999372 C 1.0 D 1.0 D 1.0 D 0.139919 N 4.53 126 32 0.203 146 0 0.000 1.58562048690400977e-10 0.469 --- 125,101,24,0.192 121,121,0,0.000 7.426 7.573 chr19 49129342 49129342 G A exonic SPHK2 synonymous SNV SPHK2:NM_001204160:exon2:c.G126A:p.R42R,SPHK2:NM_001204158:exon3:c.G57A:p.R19R,SPHK2:NM_001204159:exon3:c.G234A:p.R78R,SPHK2:NM_020126:exon3:c.G234A:p.R78R Score=468;Name=lod=106 224 81 0.266 276 0 0.000 9.89780315156480183e-26 0.506 --- 266,196,69,0.260 218,218,0,0.000 19.982 60 chr19 49442819 49442819 C T exonic DHDH synonymous SNV DHDH:NM_014475:exon4:c.C480T:p.H160H 0.000308 ID=COSM295910;OCCURENCE=1(large_intestine) rs148646797 184 46 0.200 229 0 0.000 2.32829047445780719e-15 0.587 --- 189,152,37,0.196 183,183,0,0.000 11.614 13.734 chr19 49575508 49575508 C T exonic KCNA7 nonsynonymous SNV KCNA7:NM_031886:exon1:c.G335A:p.C112Y Score=762;Name=lod=1659 0.46 0.993529 C 0.39 T 0.0 B 0.999999 D 0.110566 N 2.57 207 42 0.169 217 0 0.000 7.01299078663006628e-13 0.524 --- 214,176,38,0.178 181,181,0,0.000 10.813 60 chr19 49632145 49632145 A C exonic PPFIA3 nonsynonymous SNV PPFIA3:NM_003660:exon4:c.A383C:p.E128A Score=639;Name=lod=528 0 0.998551 C 1.0 D 0.983 D 0.999898 D 0.996765 D 4.07 103 22 0.176 129 0 0.000 6.0156305136410242e-08 0.773 --- 96,77,19,0.198 98,98,0,0.000 6.238 14.778 chr19 49656785 49656785 T C exonic HRC synonymous SNV HRC:NM_002152:exon1:c.A1710G:p.E570E 55 27 0.329 68 0 0.000 8.80628173165628542e-09 0.407 --- 87,58,26,0.310 69,69,0,0.000 7.632 12.766 chr19 49657306 49657306 G A exonic HRC stopgain HRC:NM_002152:exon1:c.C1189T:p.R397X 0.000231 rs200176524 0.44 0.182797 N 0.842062 NA 0.563206 NA 0.784633 NA 1.0 A -4.69 140 42 0.231 151 0 0.000 1.07781628261520142e-12 0.619 --- 157,121,36,0.229 131,131,0,0.000 10.091 60 chr19 49685947 49685947 G A exonic TRPM4 nonsynonymous SNV TRPM4:NM_001195227:exon11:c.G1376A:p.R459H,TRPM4:NM_017636:exon11:c.G1376A:p.R459H Score=378;Name=lod=46 0.000923 0.0009 rs142312281 0 0.998448 C 0.96 D 0.99 D 0.99998 D 0.051502 N 3.83 165 27 0.141 214 0 0.000 5.88324314576081682e-10 0.704 --- 155,131,24,0.155 168,166,0,0.000 8.021 7.044 chr19 49814384 49814384 G A exonic SLC6A16 nonsynonymous SNV SLC6A16:NM_014037:exon2:c.C221T:p.A74V 0.000081 0.43 0.090151 N 1.0 D 0.0 B 0.002063 N 0.001055 N -2.48 135 30 0.182 177 0 0.000 7.12357294687995007e-11 0.433 --- 138,112,24,0.176 149,149,0,0.000 8.216 60 chr19 50105066 50105066 C T exonic PRR12 nonsynonymous SNV PRR12:NM_020719:exon6:c.C4664T:p.A1555V Score=562;Name=lod=256 0.000083 0.81 231 76 0.248 351 1 0.003 1.00592774963080287e-26 0.474 0.000 256,197,58,0.227 290,288,1,0.003 19.221 10.991 chr19 50165463 50165463 G T exonic IRF3 nonsynonymous SNV IRF3:NM_001197126:exon4:c.C286A:p.P96T,IRF3:NM_001197125:exon5:c.C286A:p.P96T,IRF3:NM_001197122:exon6:c.C724A:p.P242T,IRF3:NM_001197123:exon6:c.C619A:p.P207T,IRF3:NM_001571:exon6:c.C724A:p.P242T 0.01 0.990603 C 0.96 D 0.999 D 0.256622 N 0.980101 D 3.34 246 54 0.180 225 0 0.000 8.49438665311472849e-15 0.444 --- 250,203,47,0.188 197,197,0,0.000 12.678 60 chr19 50170005 50170005 C T exonic BCL2L12 nonsynonymous SNV BCL2L12:NM_001040668:exon2:c.C308T:p.A103V,BCL2L12:NM_138639:exon2:c.C308T:p.A103V Score=464;Name=lod=103 0 0.997677 C 1.0 D 0.834 P 0.999529 D 0.392882 N 3.49 74 24 0.245 114 0 0.000 1.62289901656711746e-09 0.583 --- 80,60,20,0.250 95,95,0,0.000 7.436 12.602 chr19 50309440 50309440 C T exonic AP2A1 nonsynonymous SNV AP2A1:NM_130787:exon22:c.C2720T:p.A907V,AP2A1:NM_014203:exon23:c.C2786T:p.A929V Score=581;Name=lod=305 0.01 186 52 0.218 240 0 0.000 7.69754753351040827e-18 0.519 --- 195,156,38,0.196 196,196,0,0.000 12.401 11.736 chr19 50357691 50357691 G A exonic PTOV1 nonsynonymous SNV PTOV1:NM_017432:exon2:c.G200A:p.G67D Score=437;Name=lod=80 0.01 0.999379 C 0.99 D 0.889 D 0.999933 U 0.936703 D 4.35 183 34 0.157 191 0 0.000 1.81066216470201631e-10 0.676 --- 181,153,28,0.155 161,161,0,0.000 8.189 3.639 chr19 50713632 50713632 G A exonic MYH14 nonsynonymous SNV MYH14:NM_001077186:exon2:c.G10A:p.V4M,MYH14:NM_001145809:exon2:c.G10A:p.V4M,MYH14:NM_024729:exon2:c.G10A:p.V4M 0 125 31 0.199 152 0 0.000 1.90839750496321937e-10 0.645 --- 139,111,28,0.201 128,128,0,0.000 8.537 11.447 chr19 50766600 50766600 G A exonic MYH14 nonsynonymous SNV MYH14:NM_024729:exon20:c.G2494A:p.A832T,MYH14:NM_001077186:exon21:c.G2518A:p.A840T,MYH14:NM_001145809:exon22:c.G2617A:p.A873T Score=558;Name=lod=248 0.000077 ID=COSM229348,COSM229347;OCCURENCE=1(skin) 0 96 14 0.127 97 0 0.000 0.000109071918492851298 0.714 --- 89,78,11,0.124 76,76,0,0.000 3.017 4.083 chr19 50774701 50774701 G A exonic MYH14 synonymous SNV MYH14:NM_024729:exon23:c.G2946A:p.A982A,MYH14:NM_001077186:exon24:c.G2970A:p.A990A,MYH14:NM_001145809:exon25:c.G3069A:p.A1023A 0.000077 93 24 0.205 86 0 0.000 7.18079296453241007e-07 0.583 --- 102,80,22,0.216 73,73,0,0.000 5.543 5.358 chr19 50906819 50906819 C A exonic POLD1 nonsynonymous SNV POLD1:NM_001256849:exon10:c.C1207A:p.L403I,POLD1:NM_002691:exon10:c.C1207A:p.L403I Score=381;Name=lod=47 0.32 0.99698 C 0.6 T 0.014 B 0.999499 N 0.491689 N 3.26 53 8 0.131 64 0 0.000 0.00250373405924847588 0.625 --- 51,44,7,0.137 47,47,0,0.000 1.889 8.715 chr19 50912873 50912873 G A exonic POLD1 nonsynonymous SNV POLD1:NM_001256849:exon17:c.G2104A:p.G702S,POLD1:NM_002691:exon17:c.G2104A:p.G702S Score=452;Name=lod=92 0 0.998775 C 1.0 D 0.998 D 1.0 D 0.999987 D 4.03 142 17 0.107 149 0 0.000 1.11283571662268583e-05 0.412 --- 125,111,14,0.112 122,122,0,0.000 4.076 5.267 chr19 51128508 51128508 C T exonic SYT3 nonsynonymous SNV SYT3:NM_032298:exon7:c.G1618A:p.D540N,SYT3:NM_001160328:exon9:c.G1618A:p.D540N,SYT3:NM_001160329:exon9:c.G1618A:p.D540N Score=561;Name=lod=253 0.88 0.99545 C 0.0 T 0.97 D 0.998709 U 0.334758 N 3.63 185 36 0.163 241 0 0.000 5.87202746310445584e-13 0.583 --- 187,154,33,0.176 200,200,0,0.000 11.118 11.196 chr19 51165557 51165557 C T exonic SHANK1 nonsynonymous SNV SHANK1:NM_016148:exon23:c.G6151A:p.A2051T Score=395;Name=lod=54 0 0.996468 C 1.0 D 0.699154 NA 0.57018 U 0.956219 D 3.1 168 44 0.208 170 0 0.000 1.21473570490827316e-12 0.545 --- 185,144,41,0.222 151,151,0,0.000 11.536 8.714 chr19 51170369 51170369 G T exonic SHANK1 synonymous SNV SHANK1:NM_016148:exon22:c.C4848A:p.T1616T Score=487;Name=lod=127 133 25 0.158 156 0 0.000 2.14235779127571386e-08 0.560 --- 156,131,25,0.160 150,150,0,0.000 7.632 9.784 chr19 51330234 51330234 T C exonic KLK15 synonymous SNV KLK15:NM_001277081:exon3:c.A378G:p.L126L,KLK15:NM_001277082:exon3:c.A378G:p.L126L,KLK15:NM_017509:exon3:c.A381G:p.L127L Score=343;Name=lod=33 194 33 0.145 236 0 0.000 1.69748407692469419e-11 0.485 --- 203,176,26,0.129 195,194,0,0.000 7.844 12.399 chr19 51480875 51480875 C T exonic KLK7 nonsynonymous SNV KLK7:NM_001207053:exon5:c.G463A:p.G155S,KLK7:NM_001243126:exon5:c.G658A:p.G220S,KLK7:NM_005046:exon6:c.G679A:p.G227S,KLK7:NM_139277:exon6:c.G679A:p.G227S Score=374;Name=lod=44 0.000077 0 rs181437064 0.03 0.969028 C 0.95 T 0.869 D 0.842871 U 0.14322 N 3.32 114 27 0.191 119 0 0.000 2.36296362155252896e-08 0.481 --- 111,89,21,0.191 91,91,0,0.000 5.770 10.5 chr19 51503878 51503878 G T exonic KLK8 nonsynonymous SNV KLK8:NM_144505:exon3:c.C167A:p.P56H 0.18 0.112194 N 0.71782 NA 0.230813 NA 0.612318 NA 0.020261 N -3.78 116 30 0.205 151 0 0.000 1.03515635933754724e-10 0.533 --- 120,96,24,0.200 119,118,1,0.008 6.322 15.256 chr19 51582117 51582117 G A exonic KLK14 synonymous SNV KLK14:NM_022046:exon6:c.C606T:p.G202G Score=410;Name=lod=62 148 30 0.169 180 0 0.000 2.05857320745423866e-10 0.367 --- 146,118,28,0.192 141,141,0,0.000 8.703 60 chr19 51830448 51830448 A T exonic IGLON5 nonsynonymous SNV IGLON5:NM_001101372:exon6:c.A761T:p.D254V Score=578;Name=lod=297 Score=0.964165;Name=chr7:64028247 0 155 36 0.188 197 0 0.000 1.30749421502464246e-12 0.389 --- 158,128,29,0.185 168,168,0,0.000 9.802 60 chr19 51890495 51890495 C T exonic LIM2 nonsynonymous SNV LIM2:NM_030657:exon2:c.G203A:p.R68H rs199913969 0.28 0.046129 N 0.81 T 0.0 B 0.019411 U 0.023137 N -6.73 137 23 0.144 171 0 0.000 2.27544072544495902e-08 0.652 --- 137,116,21,0.153 145,145,0,0.000 6.954 12.346 chr19 51917055 51917055 G A exonic SIGLEC10 nonsynonymous SNV SIGLEC10:NM_001171161:exon8:c.C1003T:p.R335W,SIGLEC10:NM_001171157:exon9:c.C1447T:p.R483W,SIGLEC10:NM_001171158:exon9:c.C1303T:p.R435W,SIGLEC10:NM_001171159:exon9:c.C1273T:p.R425W,SIGLEC10:NM_001171156:exon10:c.C1558T:p.R520W,SIGLEC10:NM_033130:exon10:c.C1732T:p.R578W 0.01 0.095933 N 1.0 D 0.0 B 2.87E-4 N 0.0 NA -4.47 91 22 0.195 80 0 0.000 3.46846641805704719e-06 0.318 --- 87,71,16,0.184 63,63,0,0.000 4.025 15.955 chr19 52000188 52000188 G A exonic SIGLEC12 synonymous SNV SIGLEC12:NM_033329:exon6:c.C1191T:p.G397G,SIGLEC12:NM_053003:exon7:c.C1545T:p.G515G ID=COSM247331;OCCURENCE=1(prostate) 147 24 0.140 173 0 0.000 2.16612731559456293e-08 0.500 --- 138,119,19,0.138 134,134,0,0.000 5.694 4.443 chr19 52033236 52033236 C A splicing SIGLEC6 NM_001177549:exon6:c.722-1G>T,NM_198846:exon6:c.755-1G>T,NM_198845:exon5:c.707-1G>T,NM_001245:exon6:c.755-1G>T,NM_001177548:exon6:c.788-1G>T,NM_001177547:exon5:c.599-1G>T 115 24 0.173 125 0 0.000 7.80018734153153032e-08 0.292 --- 130,109,21,0.162 112,112,0,0.000 5.720 12.668 chr19 52115642 52115642 C T exonic SIGLEC5 nonsynonymous SNV SIGLEC5:NM_003830:exon9:c.G1498A:p.G500R 0.37 0.838203 N 0.49 T 0.0010 B 0.858126 NA 0.367438 NA -0.663 49 9 0.155 79 0 0.000 0.000297261555762544839 0.444 --- 45,38,7,0.156 62,62,0,0.000 2.759 3.049 chr19 52249237 52249237 A T exonic FPR1 nonsynonymous SNV FPR1:NM_002029:exon2:c.T1011A:p.N337K,FPR1:NM_001193306:exon3:c.T1011A:p.N337K 0.12 0.052477 N 0.97 D 0.043 B 0.831838 N 0.423739 N -4.06 83 15 0.153 116 0 0.000 4.36644616905354814e-06 0.600 --- 96,80,14,0.149 105,105,0,0.000 4.799 9.651 chr19 52250046 52250046 C T exonic FPR1 nonsynonymous SNV FPR1:NM_002029:exon2:c.G202A:p.A68T,FPR1:NM_001193306:exon3:c.G202A:p.A68T Score=557;Name=lod=245 ID=COSM1395719;OCCURENCE=1(large_intestine) 0 0.953659 C 0.89 T 0.991 D 0.999999 D 0.74436 D 3.11 152 21 0.121 180 0 0.000 1.62137618983917982e-07 0.714 --- 149,130,19,0.128 146,146,0,0.000 5.679 7.598 chr19 52519503 52519503 T C exonic ZNF614 nonsynonymous SNV ZNF614:NM_025040:exon5:c.A1348G:p.T450A Score=439;Name=lod=81 Score=0.933934;Name=chr11:98435554 0.01 0.86727 N 1.0 D 0.849 P 0.836732 NA 2.99E-4 N 1.46 184 36 0.164 258 0 0.000 1.37528407794679041e-13 0.389 --- 186,155,31,0.167 213,213,0,0.000 10.906 15.256 chr19 52619036 52619036 C T exonic ZNF616 nonsynonymous SNV ZNF616:NM_178523:exon4:c.G1381A:p.G461S Score=343;Name=lod=33 0 0.186196 N 0.96 D 0.786 P 0.648887 NA 0.002171 N 0.0201 168 25 0.130 229 0 0.000 1.3044238332554557e-09 0.240 --- 178,155,23,0.129 202,202,0,0.000 7.925 8.665 chr19 52663777 52663777 A T exonic ZNF836 nonsynonymous SNV ZNF836:NM_001102657:exon4:c.T83A:p.V28E 0.09 119 14 0.105 105 0 0.000 0.000344641200998351913 0.357 --- 103,91,12,0.117 84,84,0,0.000 3.210 9.895 chr19 52716080 52716080 C T exonic PPP2R1A synonymous SNV PPP2R1A:NM_014225:exon5:c.C645T:p.D215D Score=688;Name=lod=830 0.000154 rs150469675 185 34 0.155 243 0 0.000 2.20721565414874108e-12 0.324 --- 198,164,34,0.172 205,205,0,0.000 11.178 60 chr19 53117273 53117273 C T exonic ZNF83 nonsynonymous SNV ZNF83:NM_001105554:exon3:c.G545A:p.C182Y,ZNF83:NM_001277951:exon3:c.G545A:p.C182Y,ZNF83:NM_018300:exon3:c.G545A:p.C182Y,ZNF83:NM_001105552:exon4:c.G545A:p.C182Y,ZNF83:NM_001242538:exon4:c.G545A:p.C182Y,ZNF83:NM_001277946:exon4:c.G545A:p.C182Y,ZNF83:NM_001105550:exon5:c.G545A:p.C182Y,ZNF83:NM_001105551:exon5:c.G545A:p.C182Y,ZNF83:NM_001277948:exon5:c.G545A:p.C182Y,ZNF83:NM_001277949:exon5:c.G545A:p.C182Y,ZNF83:NM_001277952:exon5:c.G545A:p.C182Y,ZNF83:NM_001105549:exon6:c.G545A:p.C182Y,ZNF83:NM_001105553:exon6:c.G545A:p.C182Y,ZNF83:NM_001242531:exon6:c.G545A:p.C182Y,ZNF83:NM_001277945:exon6:c.G545A:p.C182Y,ZNF83:NM_001277947:exon6:c.G545A:p.C182Y Score=349;Name=lod=35 0 0.981251 C 0.99 D 1.0 D 0.880831 NA 0.033672 N 2.19 161 25 0.134 176 0 0.000 3.11796955848411603e-08 0.520 --- 161,139,21,0.131 152,152,0,0.000 6.269 6.961 chr19 53454761 53454761 C T exonic ZNF816 synonymous SNV ZNF816:NM_001202456:exon4:c.G267A:p.T89T,ZNF816:NM_001202457:exon4:c.G267A:p.T89T,ZNF816:NM_001031665:exon5:c.G267A:p.T89T 125 21 0.144 144 0 0.000 4.42248084903064811e-07 0.333 --- 123,103,20,0.163 124,124,0,0.000 6.422 60 chr19 53855232 53855232 G A exonic ZNF845 nonsynonymous SNV ZNF845:NM_138374:exon4:c.G1304A:p.G435E Score=393;Name=lod=53 0 178 41 0.187 265 0 0.000 7.9424870308717006e-16 0.439 --- 194,157,37,0.191 230,229,0,0.000 13.416 60 chr19 54401304 54401304 G A exonic PRKCG nonsynonymous SNV PRKCG:NM_002739:exon10:c.G1031A:p.G344E Score=425;Name=lod=71 0.38 0.999472 C 0.34 T 0.707 P 1.0 NA 0.896578 D 4.67 163 27 0.142 160 0 0.000 3.47265048760139687e-08 0.593 --- 146,127,19,0.130 122,122,0,0.000 5.027 12.49 chr19 54578158 54578158 T A exonic TARM1 synonymous SNV TARM1:NM_001135686:exon3:c.A279T:p.G93G 125 14 0.101 127 0 0.000 0.000103012487491142087 0.571 --- 113,100,13,0.115 105,105,0,0.000 3.728 9.775 chr19 55451516 55451516 G C exonic NLRP7 nonsynonymous SNV NLRP7:NM_001127255:exon4:c.C671G:p.A224G,NLRP7:NM_139176:exon4:c.C671G:p.A224G,NLRP7:NM_206828:exon4:c.C671G:p.A224G Score=0.930192;Name=chr19:55493684 0 0.890107 N 1.0 D 0.963 D 0.856406 NA 0.053183 N 0.484 126 14 0.100 141 0 0.000 4.12122615524192684e-05 0.429 --- 117,106,11,0.094 122,122,0,0.000 3.521 9.255 chr19 55543539 55543539 A G exonic GP6 nonsynonymous SNV GP6:NM_001083899:exon3:c.T293C:p.L98P,GP6:NM_001256017:exon3:c.T293C:p.L98P,GP6:NM_016363:exon3:c.T293C:p.L98P 0.15 0.054196 N 0.95 T 0.0 B 0.582018 NA 0.064759 N -7.87 67 16 0.193 88 0 0.000 4.17479721120727027e-06 0.438 --- 71,60,11,0.155 71,71,0,0.000 3.192 7.107 chr19 55593868 55593868 G A exonic EPS8L1 nonsynonymous SNV EPS8L1:NM_017729:exon7:c.G731A:p.R244Q,EPS8L1:NM_133180:exon12:c.G1112A:p.R371Q 0.15 0.224373 N 0.85 T 0.941 D 0.962116 N 8.21E-4 N -2.3 213 45 0.174 259 0 0.000 3.16857505643587082e-15 0.400 --- 222,181,40,0.181 211,211,0,0.000 12.415 14.699 chr19 55597789 55597789 A G exonic EPS8L1 synonymous SNV EPS8L1:NM_017729:exon12:c.A1299G:p.P433P,EPS8L1:NM_133180:exon17:c.A1680G:p.P560P 171 23 0.119 155 0 0.000 8.3722966186018395e-07 0.348 --- 165,145,20,0.121 127,127,0,0.000 5.143 9.054 chr19 55693157 55693157 C T exonic PTPRH nonsynonymous SNV PTPRH:NM_001161440:exon18:c.G2779A:p.V927M,PTPRH:NM_002842:exon20:c.G3313A:p.V1105M 0.000154 0.06 0.162544 N 0.9 T 0.137 B 0.20553 N 0.012239 N -0.0474 187 43 0.187 202 0 0.000 2.50139732532708465e-13 0.558 --- 193,157,36,0.187 169,169,0,0.000 10.465 9.771 chr19 55693502 55693502 G A exonic PTPRH nonsynonymous SNV PTPRH:NM_001161440:exon17:c.C2546T:p.T849I,PTPRH:NM_002842:exon19:c.C3080T:p.T1027I Score=462;Name=lod=101 0 0.999342 C 1.0 D 0.998 D 0.999169 N 0.719592 D 4.84 137 37 0.213 144 0 0.000 4.7286515135525307e-11 0.324 --- 153,123,29,0.191 123,123,0,0.000 8.022 14.808 chr19 56041252 56041252 C T exonic SBK2 nonsynonymous SNV SBK2:NM_001101401:exon4:c.G895A:p.A299T 0.56 0.959638 C 0.689136 NA 0.0020 B 0.956731 U 3.25E-4 N 1.97 172 34 0.165 228 0 0.000 2.09235479240054333e-12 0.412 --- 180,146,33,0.184 187,187,0,0.000 10.971 8.209 chr19 56047459 56047459 A C exonic SBK2 nonsynonymous SNV SBK2:NM_001101401:exon2:c.T203G:p.L68R Score=467;Name=lod=105 0 0.996867 C 0.956677 NA 0.999 D 0.999252 N 0.965796 D 4.09 134 15 0.101 119 0 0.000 0.000175827877071773898 0.600 --- 136,123,13,0.096 102,102,0,0.000 3.126 7.714 chr19 56104642 56104642 T G exonic FIZ1 nonsynonymous SNV FIZ1:NM_032836:exon3:c.A665C:p.H222P Score=243;Name=lod=13 0 0.923092 N 1.0 D 0.525926 NA 0.837663 NA 0.01518 N 2.15 138 17 0.110 97 0 0.000 0.000356397523941809772 0.000 --- 147,120,27,0.184 71,71,0,0.000 4.892 7.518 chr19 56114046 56114046 C T exonic ZNF524 nonsynonymous SNV ZNF524:NM_153219:exon2:c.C568T:p.R190C Score=321;Name=lod=27 0 0.996047 C 1.0 D 1.0 D 0.976095 NA 0.670822 D 3.77 297 69 0.189 344 0 0.000 8.06530576695786034e-22 0.406 --- 318,254,63,0.199 295,294,0,0.000 19.231 15.176 chr19 56125898 56125898 C G exonic ZNF865 nonsynonymous SNV ZNF865:NM_001195605:exon1:c.C914G:p.T305S 125 30 0.194 113 0 0.000 3.08854975072336263e-08 0.400 --- 147,119,28,0.190 100,100,0,0.000 6.760 5.551 chr19 56133656 56133656 G A exonic ZNF784 nonsynonymous SNV ZNF784:NM_203374:exon2:c.C433T:p.L145F 0.18 0.998613 C 0.72 T 0.6 P 0.995199 N 0.318327 N 3.17 257 57 0.182 281 0 0.000 1.14373486553922444e-17 0.491 --- 263,213,50,0.190 237,237,0,0.000 14.928 9.61 chr19 56372897 56372897 C T exonic NLRP4 nonsynonymous SNV NLRP4:NM_134444:exon4:c.C2002T:p.R668C 0.02 0.765053 N 0.97 D 0.873 D 0.815168 NA 0.028311 N -0.0536 91 18 0.165 139 0 0.000 1.59545070097373467e-07 0.333 --- 97,81,16,0.165 110,110,0,0.000 5.577 10.632 chr19 56934337 56934337 G A exonic ZNF583 nonsynonymous SNV ZNF583:NM_001159860:exon5:c.G310A:p.V104M,ZNF583:NM_001159861:exon5:c.G310A:p.V104M,ZNF583:NM_152478:exon5:c.G310A:p.V104M 0.38 0.806817 N 0.74 T 0.0 B 0.70336 N 0.003561 N 0.875 105 20 0.160 175 0 0.000 9.54069028393405967e-09 0.500 --- 97,81,16,0.165 142,141,0,0.000 6.581 11.247 chr19 57724121 57724121 G A exonic ZNF264 synonymous SNV ZNF264:NM_003417:exon4:c.G1656A:p.S552S 133 29 0.179 204 0 0.000 1.17822799838706404e-11 0.379 --- 135,111,24,0.178 171,171,0,0.000 9.072 60 chr19 57803554 57803554 C T exonic ZNF460 nonsynonymous SNV ZNF460:NM_006635:exon3:c.C1645T:p.L549F 1 0.187487 N 0.53 T 0.017 B 0.627947 NA 0.010653 N -0.491 160 35 0.179 208 0 0.000 1.6398809111893685e-12 0.371 --- 168,136,32,0.190 179,179,0,0.000 10.811 60 chr19 57840242 57840242 G A exonic ZNF543 nonsynonymous SNV ZNF543:NM_213598:exon4:c.G1412A:p.S471N Score=407;Name=lod=60 0.22 0.85244 N 0.48 T 0.963 D 0.85887 NA 0.001258 N 1.16 195 25 0.114 264 0 0.000 1.25247443475787476e-09 0.480 --- 192,171,20,0.105 222,221,0,0.000 6.921 9.128 chr19 57954868 57954868 C T exonic ZNF749 nonsynonymous SNV ZNF749:NM_001023561:exon3:c.C352T:p.H118Y 0 176 23 0.116 239 0 0.000 6.32077622649626686e-09 0.565 --- 177,156,21,0.119 205,205,0,0.000 7.309 13.831 chr19 57956366 57956366 G A exonic ZNF749 nonsynonymous SNV ZNF749:NM_001023561:exon3:c.G1850A:p.C617Y Score=295;Name=lod=21 0 114 14 0.109 161 0 0.000 7.36340938229060986e-06 0.429 --- 115,100,15,0.130 137,137,0,0.000 5.340 10.056 chr19 58049447 58049447 A G exonic ZNF549 nonsynonymous SNV ZNF549:NM_153263:exon3:c.A1036G:p.R346G,ZNF549:NM_001199295:exon4:c.A1075G:p.R359G Score=376;Name=lod=45 0 0.977563 C 0.99 D 0.998 D 0.876677 NA 0.012514 N 2.12 176 48 0.214 210 0 0.000 1.08989308867308633e-15 0.417 --- 192,150,42,0.219 182,181,0,0.000 13.151 60 chr19 58084995 58084995 T A exonic ZNF416 nonsynonymous SNV ZNF416:NM_017879:exon4:c.A277T:p.T93S 0.04 0.792045 N 0.97 D 0.05 B 0.77648 NA 0.0 N 0.688 150 36 0.194 186 0 0.000 4.46010482184508844e-12 0.333 --- 154,122,32,0.208 159,159,0,0.000 10.649 12.388 chr19 58146014 58146014 A C exonic ZNF211 nonsynonymous SNV ZNF211:NM_001265598:exon2:c.A108C:p.E36D,ZNF211:NM_198855:exon2:c.A108C:p.E36D,ZNF211:NM_001265597:exon3:c.A147C:p.E49D,ZNF211:NM_006385:exon3:c.A147C:p.E49D Score=405;Name=lod=59 0 0.005807 N 1.0 D 0.995 D 0.608997 NA 0.004833 N -3.46 157 21 0.118 186 0 0.000 1.57699364739240876e-07 0.810 --- 153,134,19,0.124 155,155,0,0.000 6.033 10.999 chr19 58198447 58198447 G A exonic ZNF551 synonymous SNV ZNF551:NM_001270938:exon3:c.G720A:p.Q240Q,ZNF551:NM_138347:exon3:c.G804A:p.Q268Q 167 35 0.173 226 0 0.000 7.0538614915771706e-13 0.429 --- 163,136,27,0.166 193,193,0,0.000 9.711 60 chr19 58324782 58324782 C G exonic ZNF552 nonsynonymous SNV ZNF552:NM_024762:exon2:c.G40C:p.V14L 0.01 0.958124 C 1.0 D 0.989 D 0.871817 NA 0.021628 N 0.988 127 24 0.159 144 0 0.000 5.11983671937216905e-08 0.292 --- 141,119,22,0.156 137,136,0,0.000 6.677 13.643 chr19 58850679 58850679 C T exonic ZSCAN22 nonsynonymous SNV ZSCAN22:NM_181846:exon3:c.C1463T:p.T488M 0 0.063091 N 0.91 T 0.973 D 0.680464 NA 0.376296 N -2.87 159 22 0.122 172 0 0.000 2.7879524684570719e-07 0.273 --- 148,128,20,0.135 137,136,0,0.000 5.882 8.204 chr19 58862803 58862803 G A exonic A1BG synonymous SNV A1BG:NM_130786:exon5:c.C864T:p.N288N 167 30 0.152 228 0 0.000 2.67119626671496397e-11 0.667 --- 166,140,26,0.157 188,188,0,0.000 9.040 7.123 chr19 58868585 58868585 G A exonic ZNF497 synonymous SNV ZNF497:NM_001207009:exon2:c.C417T:p.C139C,ZNF497:NM_198458:exon3:c.C417T:p.C139C Score=333;Name=lod=30 234 40 0.146 304 0 0.000 2.14977955546547769e-14 0.475 --- 241,203,37,0.154 257,257,0,0.000 12.372 14.75 chr19 59011717 59011717 G T exonic SLC27A5 nonsynonymous SNV SLC27A5:NM_012254:exon6:c.C1457A:p.P486H Score=383;Name=lod=48 0.11 0.992536 C 0.86 T 0.99 D 0.998963 N 0.162751 N 3.9 83 19 0.186 72 0 0.000 2.48890726829098273e-05 0.789 --- 92,72,20,0.217 61,61,0,0.000 4.549 13.649 chr20 428590 428590 G A exonic TBC1D20 stopgain TBC1D20:NM_144628:exon2:c.C199T:p.R67X ID=COSM1027050;OCCURENCE=1(endometrium) 0.87 0.193629 N 0.839522 NA 0.602199 NA 0.995798 N 1.0 A -2.29 120 27 0.184 130 0 0.000 2.15140606957117563e-08 0.593 --- 115,94,21,0.183 102,101,0,0.000 6.137 8.607 chr20 476401 476401 T C exonic CSNK2A1 nonsynonymous SNV CSNK2A1:NM_177560:exon6:c.A64G:p.K22E,CSNK2A1:NM_001895:exon7:c.A472G:p.K158E,CSNK2A1:NM_177559:exon8:c.A472G:p.K158E Score=658;Name=lod=627 0 0.997996 C 1.0 D 1.0 D 1.0 D 0.999968 D 4.77 81 9 0.100 87 0 0.000 0.00319041768408302212 0.444 --- 66,60,6,0.091 67,67,0,0.000 1.878 7.711 chr20 645033 645033 G A exonic SCRT2 nonsynonymous SNV SCRT2:NM_033129:exon2:c.C206T:p.A69V 0.07 0.999307 C 0.91 T 0.0060 B 0.941811 U 0.204135 N 4.26 175 29 0.142 176 0 0.000 7.57697819855772681e-09 0.517 --- 152,131,21,0.138 125,125,0,0.000 5.628 6.91 chr20 2380268 2380268 G A exonic TGM6 nonsynonymous SNV TGM6:NM_001254734:exon6:c.G734A:p.G245D,TGM6:NM_198994:exon6:c.G734A:p.G245D Score=495;Name=lod=137 0.01 0.999586 C 1.0 D 0.971 D 1.0 D 0.97561 D 4.65 170 29 0.146 253 2 0.008 2.08762860798843569e-09 0.586 0.500 162,136,26,0.160 200,199,1,0.005 8.384 6.917 chr20 2776017 2776017 G A exonic CPXM1 nonsynonymous SNV CPXM1:NM_001184699:exon12:c.C1544T:p.T515I,CPXM1:NM_019609:exon12:c.C1766T:p.T589I Score=581;Name=lod=307 0 0.999757 C 1.0 D 1.0 D 1.0 D 0.360321 N 5.05 137 24 0.149 161 0 0.000 4.72429347679377943e-08 0.375 --- 133,111,22,0.165 131,131,0,0.000 6.729 10.024 chr20 3653510 3653510 C T exonic ADAM33 nonsynonymous SNV ADAM33:NM_025220:exon12:c.G1169A:p.R390H,ADAM33:NM_153202:exon12:c.G1169A:p.R390H Score=511;Name=lod=159 0 0.997096 C 0.99 D 0.996 D 0.910173 NA 0.20901 N 3.84 378 57 0.131 388 0 0.000 2.75283314200295517e-17 0.439 --- 369,323,46,0.125 333,333,0,0.000 13.325 4.664 chr20 3683978 3683978 A G exonic SIGLEC1 nonsynonymous SNV SIGLEC1:NM_023068:exon5:c.T1094C:p.V365A 0.75 0.101151 N 0.21 T 0.0 B 0.284657 N 0.045564 N -1.08 131 20 0.132 172 0 0.000 1.2151355217099572e-07 0.550 --- 132,114,18,0.136 141,141,0,0.000 5.959 14.025 chr20 3804562 3804562 G A exonic AP5S1 nonsynonymous SNV AP5S1:NM_001204446:exon3:c.G221A:p.R74Q,AP5S1:NM_001204447:exon3:c.G221A:p.R74Q,AP5S1:NM_018347:exon3:c.G221A:p.R74Q Score=284;Name=lod=19 ID=COSM1411771;OCCURENCE=1(large_intestine) 0.16 0.995159 C 0.84 T 0.944 D 0.999988 D 0.624339 D 4.5 237 50 0.174 280 0 0.000 2.04581827688675282e-16 0.600 --- 229,188,41,0.179 225,224,0,0.000 12.855 6.933 chr20 4880213 4880213 G A exonic SLC23A2 nonsynonymous SNV SLC23A2:NM_005116:exon6:c.C470T:p.T157M,SLC23A2:NM_203327:exon6:c.C470T:p.T157M Score=407;Name=lod=60 0.000077 0 0.999058 C 1.0 D 0.99 D 1.0 D 0.99978 D 4.56 101 16 0.137 121 0 0.000 6.65447551242312842e-06 0.750 --- 97,84,13,0.134 106,106,0,0.000 4.364 7.427 chr20 5107777 5107777 T C exonic CDS2 synonymous SNV CDS2:NM_003818:exon1:c.T39C:p.V13V 0 119 15 0.112 113 0 0.000 7.56850184825772287e-05 0.333 --- 109,96,13,0.119 97,97,0,0.000 3.670 6.699 chr20 10622442 10622442 C T exonic JAG1 nonsynonymous SNV JAG1:NM_000214:exon22:c.G2671A:p.A891T Score=399;Name=lod=56 ID=COSM312101,COSM312100;OCCURENCE=1(lung) 0.58 0.999313 C 0.38 T 0.0 B 0.997924 N 0.446544 N 5.71 78 20 0.204 91 0 0.000 8.30718741582926634e-07 0.500 --- 86,69,17,0.198 76,76,0,0.000 4.993 11.231 chr20 13052982 13052982 C T exonic SPTLC3 nonsynonymous SNV SPTLC3:NM_018327:exon3:c.C382T:p.R128W Score=579;Name=lod=302 ID=COSM1266777,COSM1266776;OCCURENCE=1(oesophagus) 0 0.812513 N 1.0 D 0.952 D 0.999964 D 0.749236 NA 1.68 110 25 0.185 135 0 0.000 1.75263779710244467e-08 0.600 --- 103,85,18,0.175 108,107,0,0.000 5.928 13.282 chr20 13279964 13279964 T C exonic ISM1 nonsynonymous SNV ISM1:NM_080826:exon6:c.T1253C:p.V418A Score=553;Name=lod=235 0.1 169 41 0.195 259 0 0.000 4.55340268259166357e-16 0.488 --- 181,146,35,0.193 220,220,0,0.000 12.956 15.955 chr20 17462340 17462340 C T exonic PCSK2 synonymous SNV PCSK2:NM_001201529:exon11:c.C1437T:p.N479N,PCSK2:NM_002594:exon12:c.C1542T:p.N514N,PCSK2:NM_001201528:exon13:c.C1485T:p.N495N 111 21 0.159 120 0 0.000 6.18768672336018023e-07 0.714 --- 120,101,19,0.158 102,102,0,0.000 5.092 9.735 chr20 18139736 18139736 C T exonic CSRP2BP nonsynonymous SNV CSRP2BP:NM_020536:exon4:c.C509T:p.T170M Score=441;Name=lod=83 0 0.9992 C 0.98 D 0.942 D 1.0 D 0.998591 D 5.57 165 28 0.145 153 0 0.000 5.54900006386252603e-08 0.714 --- 155,133,22,0.142 131,131,0,0.000 5.973 8.298 chr20 18370425 18370425 G A exonic DZANK1 synonymous SNV DZANK1:NM_001099407:exon19:c.C1938T:p.T646T 0.021069 0.02 rs114628871 159 36 0.185 199 0 0.000 1.66992877880353955e-12 0.500 --- 158,131,27,0.171 161,161,0,0.000 8.771 60 chr20 18414314 18414314 C A exonic DZANK1 nonsynonymous SNV DZANK1:NM_001099407:exon9:c.G843T:p.Q281H Score=401;Name=lod=57 0 94 14 0.130 138 0 0.000 5.97457284419125568e-06 0.786 --- 87,75,12,0.138 108,108,0,0.000 4.401 8.05 chr20 18535003 18535003 G A exonic SEC23B nonsynonymous SNV SEC23B:NM_001172745:exon18:c.G2117A:p.R706H,SEC23B:NM_001172746:exon18:c.G2063A:p.R688H,SEC23B:NM_006363:exon18:c.G2117A:p.R706H,SEC23B:NM_032985:exon18:c.G2117A:p.R706H,SEC23B:NM_032986:exon18:c.G2117A:p.R706H Score=467;Name=lod=105 0 0.999582 C 1.0 D 1.0 D 1.0 D 0.999974 D 4.64 122 20 0.141 161 0 0.000 1.21784830907036833e-07 0.500 --- 121,104,17,0.140 123,123,0,0.000 5.443 10.426 chr20 21492873 21492873 C T exonic NKX2-2 synonymous SNV NKX2-2:NM_002509:exon2:c.G510A:p.T170T Score=748;Name=lod=1455 182 50 0.216 275 0 0.000 4.29551563368364604e-19 0.580 --- 188,148,39,0.209 239,238,0,0.000 14.977 11.116 chr20 23016868 23016868 C T exonic SSTR4 nonsynonymous SNV SSTR4:NM_001052:exon1:c.C748T:p.R250C Score=420;Name=lod=68 0 0.990943 C 1.0 D 0.971 D 0.999991 U 0.783516 NA 1.64 241 42 0.148 359 0 0.000 1.83185320934269857e-16 0.548 --- 241,206,34,0.142 309,309,0,0.000 12.831 60 chr20 23028861 23028861 G A exonic THBD synonymous SNV THBD:NM_000361:exon1:c.C1281T:p.C427C Score=325;Name=lod=28 291 43 0.129 311 0 0.000 1.31944092805729905e-13 0.488 --- 289,253,36,0.125 284,284,0,0.000 11.022 8.33 chr20 23029283 23029283 A T exonic THBD nonsynonymous SNV THBD:NM_000361:exon1:c.T859A:p.S287T 0.28 0.020843 N 0.36 T 0.086 B 0.994245 U 0.104798 N -0.945 286 72 0.201 347 0 0.000 1.39301213000848104e-23 0.472 --- 309,246,63,0.204 314,314,0,0.000 20.727 60 chr20 30137108 30137108 C T exonic HM13 synonymous SNV HM13:NM_030789:exon6:c.C639T:p.G213G,HM13:NM_178580:exon6:c.C639T:p.G213G,HM13:NM_178581:exon6:c.C639T:p.G213G Score=589;Name=lod=329 97 24 0.198 148 0 0.000 1.17530837003953295e-09 0.542 --- 106,86,20,0.189 119,119,0,0.000 6.991 11.561 chr20 30556168 30556168 C T exonic XKR7 synonymous SNV XKR7:NM_001011718:exon1:c.C190T:p.L64L Score=644;Name=lod=552 171 19 0.100 169 0 0.000 3.94055613530386194e-06 0.789 --- 161,143,18,0.112 146,145,0,0.000 5.172 10.584 chr20 30785162 30785162 T C exonic PLAGL2 nonsynonymous SNV PLAGL2:NM_002657:exon3:c.A584G:p.H195R Score=576;Name=lod=292 Score=0.959093;Name=chr4:85165043 0.06 0.998 C 0.74 T 0.998 D 1.0 D 0.746715 NA 4.78 153 18 0.105 175 0 0.000 1.92029773765285804e-06 0.444 --- 150,133,17,0.113 149,149,0,0.000 5.025 5.31 chr20 32232401 32232401 G A exonic CBFA2T2 synonymous SNV CBFA2T2:NM_001032999:exon11:c.G1737A:p.S579S,CBFA2T2:NM_001039709:exon11:c.G1677A:p.S559S,CBFA2T2:NM_005093:exon12:c.G1764A:p.S588S 144 35 0.196 194 0 0.000 1.02036187142195984e-12 0.343 --- 153,123,30,0.196 158,158,0,0.000 9.937 13.977 chr20 33577720 33577720 G A exonic MYH7B nonsynonymous SNV MYH7B:NM_020884:exon20:c.G1891A:p.V631M Score=419;Name=lod=67 0.01 0.999183 C 0.875982 NA 0.668426 NA 0.997978 N 0.775175 D 4.12 151 37 0.197 196 0 0.000 4.49621086770739379e-13 0.541 --- 160,128,32,0.200 159,159,0,0.000 10.080 60 chr20 33764078 33764078 C T exonic PROCR nonsynonymous SNV PROCR:NM_006404:exon3:c.C430T:p.R144W ID=COSM1411383;OCCURENCE=1(large_intestine) 0.01 0.821774 N 0.99 D 0.995 D 0.406284 N 0.38867 N 1.92 184 52 0.220 198 0 0.000 1.0654007195422531e-15 0.654 --- 193,150,43,0.223 153,152,0,0.000 11.683 13.879 chr20 33876326 33876326 C T exonic FAM83C synonymous SNV FAM83C:NM_178468:exon3:c.G744A:p.T248T 0.008765 0.01 rs75025795 266 66 0.199 324 0 0.000 1.01148978916828201e-21 0.318 --- 264,210,53,0.202 257,257,0,0.000 16.844 10.69 chr20 34090345 34090345 C T exonic CEP250 nonsynonymous SNV CEP250:NM_007186:exon30:c.C4148T:p.T1383M 0.04 0.028508 N 0.88 T 0.0010 B 0.588863 N 0.006851 N -5.57 133 30 0.184 163 0 0.000 2.14232979146907991e-10 0.533 --- 138,113,24,0.175 131,131,0,0.000 7.346 60 chr20 34117049 34117049 C T exonic C20orf173 nonsynonymous SNV C20orf173:NM_001145350:exon2:c.G154A:p.G52R 0.91 142 28 0.165 158 0 0.000 3.50530117165403999e-09 0.429 --- 142,118,24,0.169 135,135,0,0.000 7.312 11.303 chr20 35457535 35457535 G A exonic SOGA1 synonymous SNV SOGA1:NM_080627:exon3:c.C993T:p.N331N,SOGA1:NM_199181:exon3:c.C279T:p.N93N Score=511;Name=lod=159 126 34 0.213 151 0 0.000 2.52740998846201523e-11 0.500 --- 129,101,28,0.217 117,117,0,0.000 8.511 10.418 chr20 35884894 35884894 G A exonic GHRH nonsynonymous SNV GHRH:NM_001184731:exon2:c.C91T:p.R31W,GHRH:NM_021081:exon2:c.C91T:p.R31W 0 0.953871 C 1.0 D 1.0 D 0.999957 D 0.940305 D 1.92 47 10 0.175 49 0 0.000 0.00161366355777140475 0.400 --- 47,38,9,0.191 34,34,0,0.000 2.061 4.624 chr20 36488678 36488678 G A exonic CTNNBL1 nonsynonymous SNV CTNNBL1:NM_030877:exon15:c.G1535A:p.R512H Score=428;Name=lod=73 0.01 0.999484 C 0.98 D 0.713 P 1.0 D 0.999007 D 4.99 62 12 0.162 80 0 0.000 9.16949535194233951e-05 0.500 --- 61,54,7,0.115 67,66,0,0.000 2.311 9.215 chr20 37163794 37163794 C T exonic RALGAPB nonsynonymous SNV RALGAPB:NM_020336:exon16:c.C2323T:p.R775C Score=747;Name=lod=1449 0.000077 rs140936843 0 0.999111 C 1.0 D 0.976 D 1.0 D 0.999692 D 5.47 122 27 0.181 181 0 0.000 1.15134242627835458e-10 0.593 --- 116,94,22,0.190 135,134,0,0.000 7.847 10.491 chr20 39316614 39316614 C T exonic MAFB nonsynonymous SNV MAFB:NM_005461:exon1:c.G877A:p.A293T Score=783;Name=lod=2023 0.12 0.995366 C 0.91 T 0.03 B 1.0 D 0.999984 D 3.42 233 32 0.121 237 0 0.000 9.95290998702396506e-10 0.562 --- 226,196,30,0.133 206,206,0,0.000 8.847 8.365 chr20 43726342 43726342 G A exonic KCNS1 synonymous SNV KCNS1:NM_002251:exon4:c.C1071T:p.R357R Score=633;Name=lod=497 167 28 0.144 238 0 0.000 6.34221717329275914e-11 0.679 --- 164,138,26,0.159 193,193,0,0.000 9.287 10.651 chr20 44525630 44525630 G A exonic CTSA nonsynonymous SNV CTSA:NM_001167594:exon11:c.G1118A:p.R373H,CTSA:NM_000308:exon12:c.G1169A:p.R390H,CTSA:NM_001127695:exon12:c.G1115A:p.R372H Score=542;Name=lod=212 0.02 0.999672 C 0.93 T 0.750074 NA 1.0 D 0.999954 D 4.82 75 12 0.138 64 0 0.000 0.00130985562482192538 0.583 --- 74,65,9,0.122 47,47,0,0.000 1.922 4.409 chr20 44638556 44638556 T A exonic MMP9 nonsynonymous SNV MMP9:NM_004994:exon2:c.T190A:p.S64T 0.58 0.001291 N 0.42 T 0.016 B 0.031954 N 2.21E-4 N -8.26 137 24 0.149 152 0 0.000 5.8618131370800522e-08 0.708 --- 134,113,21,0.157 131,131,0,0.000 6.380 13.784 chr20 44684849 44684849 C T exonic SLC12A5 nonsynonymous SNV SLC12A5:NM_001134771:exon22:c.C2917T:p.R973W,SLC12A5:NM_020708:exon22:c.C2848T:p.R950W Score=569;Name=lod=273 0.02 0.97382 C 0.98 D 0.699 P 0.999698 D 0.972602 D 1.5 152 55 0.266 228 0 0.000 2.38910594195009931e-20 0.564 --- 165,123,41,0.250 186,186,0,0.000 14.815 60 chr20 45354879 45354879 G A exonic SLC2A10 nonsynonymous SNV SLC2A10:NM_030777:exon2:c.G1204A:p.A402T 0.000154 rs147710229 0.59 0.058475 N 0.29 T 0.0 B 0.060799 N 0.014207 N -7.33 171 45 0.208 276 1 0.004 1.22560697844156313e-16 0.467 0.000 188,145,43,0.229 220,219,1,0.005 14.307 60 chr20 45856009 45856009 T A exonic ZMYND8 nonsynonymous SNV ZMYND8:NM_012408:exon18:c.A2815T:p.I939F,ZMYND8:NM_183047:exon18:c.A2815T:p.I939F,ZMYND8:NM_183048:exon18:c.A2740T:p.I914F Score=469;Name=lod=107 0.02 0.998155 C 0.98 D 0.98 D 1.0 D 0.96656 D 5.39 94 13 0.121 113 0 0.000 5.72509966481500891e-05 0.385 --- 89,79,10,0.112 88,88,0,0.000 2.825 6.437 chr20 46256424 46256424 C T exonic NCOA3 nonsynonymous SNV NCOA3:NM_001174087:exon7:c.C652T:p.R218C,NCOA3:NM_001174088:exon7:c.C652T:p.R218C,NCOA3:NM_006534:exon7:c.C652T:p.R218C,NCOA3:NM_181659:exon7:c.C652T:p.R218C Score=473;Name=lod=112 0.053514 0.03 0.041 rs6094752 0 0.999386 C 0.88 T 0.1 B 1.0 D 0.747219 D 5.81 118 27 0.186 116 0 0.000 4.10335410975739508e-08 0.556 --- 112,93,19,0.170 96,96,0,0.000 5.426 9.191 chr20 49576311 49576311 A T exonic MOCS3 nonsynonymous SNV MOCS3:NM_014484:exon1:c.A932T:p.D311V Score=494;Name=lod=136 Score=0.917071;Name=chr14:62330932 0 0.976124 C 1.0 D 0.977 D 0.999998 D 0.999986 D 3.55 219 47 0.177 278 0 0.000 2.55359815499497452e-16 0.489 --- 222,180,42,0.189 244,244,0,0.000 14.498 12.298 chr20 52645215 52645215 C T exonic BCAS1 nonsynonymous SNV BCAS1:NM_003657:exon4:c.G439A:p.G147R 0.02 0.812945 N 1.0 D 0.992 D 0.78973 N 0.526235 D 1.89 213 71 0.250 292 0 0.000 9.77729481423411134e-25 0.479 --- 243,183,60,0.247 251,251,0,0.000 20.323 14.955 chr20 54961361 54961361 G A exonic AURKA nonsynonymous SNV AURKA:NM_003600:exon3:c.C271T:p.P91S,AURKA:NM_198435:exon3:c.C271T:p.P91S,AURKA:NM_198437:exon3:c.C271T:p.P91S,AURKA:NM_198434:exon4:c.C271T:p.P91S,AURKA:NM_198436:exon4:c.C271T:p.P91S,AURKA:NM_198433:exon5:c.C271T:p.P91S 0.13 0.807704 N 0.85 T 0.0010 B 0.991943 N 0.851872 D -0.782 197 39 0.165 214 0 0.000 4.1582214224274386e-12 0.385 --- 195,160,35,0.179 177,177,0,0.000 10.502 15.955 chr20 55206616 55206616 C T exonic TFAP2C nonsynonymous SNV TFAP2C:NM_003222:exon2:c.C404T:p.A135V 0.54 0.921301 N 0.49 T 0.0 B 0.9924 N 0.011586 N 0.445 235 50 0.175 226 0 0.000 3.12342640304046639e-14 0.520 --- 246,203,43,0.175 203,203,0,0.000 11.940 7.434 chr20 55208533 55208533 G A exonic TFAP2C synonymous SNV TFAP2C:NM_003222:exon4:c.G711A:p.T237T 105 41 0.281 122 0 0.000 1.08021909847804175e-12 0.585 --- 118,87,31,0.263 97,97,0,0.000 8.953 60 chr20 55929835 55929835 C A exonic RAE1 nonsynonymous SNV RAE1:NM_001015885:exon3:c.C158A:p.P53Q,RAE1:NM_003610:exon3:c.C158A:p.P53Q Score=363;Name=lod=40 0.27 0.983443 C 0.27 T 0.0040 B 1.0 D 0.998285 D 4.5 88 13 0.129 103 0 0.000 7.08569873762565946e-05 0.385 --- 83,72,11,0.133 87,86,1,0.011 2.688 7.587 chr20 57042171 57042171 C A exonic APCDD1L nonsynonymous SNV APCDD1L:NM_153360:exon3:c.G732T:p.Q244H Score=483;Name=lod=122 0.07 0.966196 C 0.98 D 0.999 D 0.999048 N 0.001216 N 3.44 217 73 0.252 290 0 0.000 1.17276871905755712e-24 0.603 --- 263,194,69,0.262 253,253,0,0.000 22.371 60 chr20 57242589 57242589 A G exonic STX16 nonsynonymous SNV STX16:NM_001134772:exon2:c.A176G:p.D59G,STX16:NM_003763:exon2:c.A125G:p.D42G,STX16:NM_001001433:exon3:c.A188G:p.D63G,STX16:NM_001134773:exon3:c.A137G:p.D46G,STX16:NM_001204868:exon4:c.A29G:p.D10G Score=508;Name=lod=155 0 0.998497 C 1.0 D 0.998 D 1.0 U 0.999694 D 5.11 99 35 0.261 99 0 0.000 5.21190389184415534e-10 0.543 --- 106,82,24,0.226 79,79,0,0.000 6.240 60 chr20 57428654 57428654 G T exonic GNAS stopgain GNAS:NM_080425:exon1:c.G334T:p.G112X 0 135 32 0.192 169 0 0.000 3.68623163975254906e-11 0.562 --- 151,121,30,0.199 154,154,0,0.000 9.861 14.676 chr20 57767485 57767485 C T exonic ZNF831 nonsynonymous SNV ZNF831:NM_178457:exon1:c.C1411T:p.R471C 0 0.967866 C 0.925988 NA 0.999 D 0.937956 NA 0.439519 N 1.87 331 102 0.236 410 0 0.000 5.31095388976446826e-33 0.480 --- 353,269,84,0.238 350,350,0,0.000 27.402 60 chr20 60575630 60575630 C T exonic TAF4 synonymous SNV TAF4:NM_003185:exon10:c.G2634A:p.L878L 134 23 0.146 171 0 0.000 1.76852779583702909e-08 0.609 --- 135,114,21,0.156 142,142,0,0.000 6.930 14.841 chr20 60883795 60883795 A C exonic ADRM1 nonsynonymous SNV ADRM1:NM_007002:exon10:c.A1202C:p.E401A,ADRM1:NM_175573:exon10:c.A1202C:p.E401A Score=476;Name=lod=115 0.04 0.99887 C 0.74 T 0.744 P 1.0 D 0.91676 D 5.39 178 23 0.114 195 0 0.000 1.29028184625146833e-07 0.522 --- 157,137,20,0.127 147,147,0,0.000 5.916 9.49 chr20 60887475 60887475 C G exonic LAMA5 nonsynonymous SNV LAMA5:NM_005560:exon68:c.G9341C:p.G3114A Score=346;Name=lod=34 0.19 0.997309 C 0.85 T 0.478 P 0.999998 D 0.994881 D 3.91 198 74 0.272 241 0 0.000 2.11121653515756123e-23 0.459 --- 240,174,66,0.275 213,213,0,0.000 20.155 60 chr20 60913390 60913390 G A exonic LAMA5 nonsynonymous SNV LAMA5:NM_005560:exon13:c.C1654T:p.R552C 0.000077 0.19 0.230128 N 0.93 T 0.346 P 0.307758 N 0.005189 N -2.47 206 44 0.176 233 0 0.000 3.62377315397973087e-14 0.432 --- 222,185,37,0.167 208,208,0,0.000 11.282 8.699 chr20 60989604 60989604 C T exonic RBBP8NL nonsynonymous SNV RBBP8NL:NM_080833:exon10:c.G803A:p.R268Q 0.27 0.902058 N 0.9 T 0.284 P 0.68811 N 0.012336 N 1.14 158 18 0.102 135 0 0.000 2.80081575401434577e-05 0.444 --- 135,122,13,0.096 106,106,0,0.000 3.154 6.58 chr20 60990229 60990229 C T exonic RBBP8NL nonsynonymous SNV RBBP8NL:NM_080833:exon9:c.G742A:p.A248T rs35934795 0.88 0.006324 N 0.0 T 0.0 B 0.343848 N 0.001282 N -8.75 251 48 0.161 236 0 0.000 1.52139138219534032e-13 0.521 --- 239,199,40,0.167 197,197,0,0.000 11.010 9.066 chr20 60990265 60990265 G A exonic RBBP8NL stopgain RBBP8NL:NM_080833:exon9:c.C706T:p.R236X 1 0.920206 N 0.905086 NA 0.63948 NA 0.529244 N 1.0 A -0.89 199 83 0.294 228 0 0.000 1.02862183935230256e-24 0.422 --- 222,150,71,0.321 188,188,0,0.000 21.573 14.122 chr20 61513414 61513414 C T exonic DIDO1 synonymous SNV DIDO1:NM_001193369:exon16:c.G3894A:p.T1298T,DIDO1:NM_033081:exon16:c.G3894A:p.T1298T 252 56 0.182 267 0 0.000 7.39095847177993961e-17 0.446 --- 269,222,47,0.175 242,241,0,0.000 13.877 60 chr20 61542780 61542780 C T exonic DIDO1 nonsynonymous SNV DIDO1:NM_001193369:exon3:c.G185A:p.R62Q,DIDO1:NM_001193370:exon3:c.G185A:p.R62Q,DIDO1:NM_022105:exon3:c.G185A:p.R62Q,DIDO1:NM_033081:exon3:c.G185A:p.R62Q,DIDO1:NM_080796:exon3:c.G185A:p.R62Q,DIDO1:NM_080797:exon3:c.G185A:p.R62Q Score=304;Name=lod=23 0 0.999125 C 1.0 D 0.999 D 0.998672 U 0.924876 D 5.48 329 62 0.159 373 0 0.000 7.34030945865767599e-20 0.500 --- 332,278,53,0.160 320,320,0,0.000 16.478 14.364 chr20 61870791 61870791 G A exonic BIRC7 nonsynonymous SNV BIRC7:NM_022161:exon6:c.G677A:p.R226Q,BIRC7:NM_139317:exon6:c.G731A:p.R244Q Score=471;Name=lod=109 0.001000 0.0009 rs61737394 0.14 0.905383 N 0.8 T 0.284 P 0.936974 N 0.99991 D 0.804 218 102 0.319 319 0 0.000 2.61092326611318524e-35 0.529 --- 273,182,91,0.333 259,259,0,0.000 30.047 60 chr20 61879028 61879028 C A exonic NKAIN4 nonsynonymous SNV NKAIN4:NM_152864:exon4:c.G373T:p.G125W 0.13 0.201359 N 0.87 T 0.605 P 0.913705 U 0.428436 N -0.691 176 43 0.196 183 0 0.000 7.76422059759047815e-13 0.721 --- 193,155,38,0.197 154,154,0,0.000 10.413 11.83 chr20 61944535 61944535 G A exonic COL20A1 nonsynonymous SNV COL20A1:NM_020882:exon17:c.G2143A:p.V715I 0.000081 0.0005 rs200875270 1 109 44 0.288 129 0 0.000 1.02599403177423716e-13 0.523 --- 128,93,35,0.273 105,105,0,0.000 9.982 60 chr20 61959439 61959439 G A exonic COL20A1 synonymous SNV COL20A1:NM_020882:exon33:c.G3573A:p.P1191P Score=506;Name=lod=152 104 33 0.241 139 0 0.000 1.00645518709394042e-11 0.545 --- 116,88,28,0.241 116,115,0,0.000 8.933 9.034 chr20 62076690 62076690 C T exonic KCNQ2 nonsynonymous SNV KCNQ2:NM_004518:exon3:c.G415A:p.V139M,KCNQ2:NM_172106:exon3:c.G415A:p.V139M,KCNQ2:NM_172107:exon3:c.G415A:p.V139M,KCNQ2:NM_172108:exon3:c.G415A:p.V139M,KCNQ2:NM_172109:exon3:c.G415A:p.V139M Score=581;Name=lod=306 0.11 0.992888 C 0.74 T 0.984 D 0.999989 D 0.795177 D 3.56 115 44 0.277 156 0 0.000 3.84456948205880424e-15 0.341 --- 133,95,38,0.286 120,120,0,0.000 11.684 14.654 chr20 62221957 62221957 G A exonic GMEB2 nonsynonymous SNV GMEB2:NM_012384:exon10:c.C1078T:p.R360W Score=459;Name=lod=98 0 0.999234 C 1.0 D 0.998 D 1.0 D 0.929594 D 4.71 113 19 0.144 142 0 0.000 4.57185973384901292e-07 0.368 --- 112,97,15,0.134 114,114,0,0.000 4.793 12.019 chr20 62273600 62273600 C T exonic STMN3 nonsynonymous SNV STMN3:NM_001276310:exon4:c.G311A:p.R104H,STMN3:NM_015894:exon4:c.G344A:p.R115H Score=704;Name=lod=966 Score=0.974427;Name=chr22:25573628 0 0.998363 C 0.99 D 0.992 D 0.994739 U 0.785149 NA 4.9 141 32 0.185 110 0 0.000 6.99350360247519382e-08 0.250 --- 141,113,28,0.199 92,92,0,0.000 6.447 13.61 chr20 62309505 62309505 C T exonic RTEL1 synonymous SNV RTEL1:NM_016434:exon11:c.C927T:p.N309N,RTEL1:NM_032957:exon11:c.C999T:p.N333N Score=381;Name=lod=47 122 19 0.135 93 0 0.000 4.38346372563732706e-05 0.842 --- 125,107,18,0.144 79,79,0,0.000 3.799 12.27 chr20 62364696 62364696 G A exonic ZGPAT nonsynonymous SNV ZGPAT:NM_001083113:exon3:c.G710A:p.R237H,ZGPAT:NM_001195653:exon3:c.G710A:p.R237H,ZGPAT:NM_001195654:exon3:c.G710A:p.R237H,ZGPAT:NM_032527:exon3:c.G710A:p.R237H,ZGPAT:NM_181485:exon3:c.G710A:p.R237H Score=412;Name=lod=63 ID=COSM1029172;OCCURENCE=1(endometrium) rs199674062 0.01 0.999633 C 0.98 D 0.987 D 0.999953 D 0.998912 D 5.26 222 28 0.112 205 0 0.000 2.8110651782115653e-08 0.500 --- 205,184,20,0.098 170,169,0,0.000 5.249 5.709 chr20 62407138 62407138 G A exonic ZBTB46 nonsynonymous SNV ZBTB46:NM_025224:exon3:c.C1115T:p.A372V Score=429;Name=lod=74 0.49 0.999544 C 0.97 D 0.759 P 1.0 D 0.972155 D 5.11 242 77 0.241 265 0 0.000 8.66108420453750995e-23 0.727 --- 276,206,69,0.251 221,221,0,0.000 19.502 15.477 chr20 62521332 62521332 G A exonic TPD52L2 synonymous SNV TPD52L2:NM_001243895:exon6:c.G606A:p.T202T 166 57 0.256 186 0 0.000 4.1031526814716501e-17 0.579 --- 186,139,47,0.253 151,151,0,0.000 13.147 13.221 chr20 62572189 62572189 C T exonic UCKL1 synonymous SNV UCKL1:NM_001193379:exon11:c.G1092A:p.P364P,UCKL1:NM_017859:exon11:c.G1137A:p.P379P Score=419;Name=lod=67 0.06 257 95 0.270 291 0 0.000 2.58589893678500784e-28 0.389 --- 321,231,90,0.280 261,261,0,0.000 26.031 15.477 chr21 19635127 19635127 T C exonic CHODL synonymous SNV CHODL:NM_001204174:exon5:c.T597C:p.I199I,CHODL:NM_001204175:exon5:c.T531C:p.I177I,CHODL:NM_024944:exon5:c.T654C:p.I218I,CHODL:NM_001204176:exon6:c.T531C:p.I177I Score=531;Name=lod=192 46 8 0.148 71 0 0.000 0.000884618675111504276 0.625 --- 41,35,6,0.146 56,56,0,0.000 2.342 6.404 chr21 27137090 27137090 T A exonic GABPA synonymous SNV GABPA:NM_001197297:exon9:c.T1128A:p.R376R,GABPA:NM_002040:exon9:c.T1128A:p.R376R Score=728;Name=lod=1216 94 14 0.130 121 0 0.000 1.67533091395212096e-05 0.357 --- 87,74,13,0.149 99,99,0,0.000 4.513 8.305 chr21 28315858 28315858 G T exonic ADAMTS5 nonsynonymous SNV ADAMTS5:NM_007038:exon3:c.C1246A:p.L416I Score=445;Name=lod=86 ID=COSM398542;OCCURENCE=1(lung) 0.996198 C 0.92 T 0.937 D 1.0 D 0.987066 D 4.37 90 17 0.159 102 0 0.000 8.2199445914029068e-06 0.412 --- 83,71,12,0.145 90,90,0,0.000 4.021 9.894 chr21 31015175 31015175 C T exonic GRIK1 nonsynonymous SNV GRIK1:NM_000830:exon7:c.G1069A:p.G357R,GRIK1:NM_175611:exon7:c.G1069A:p.G357R Score=630;Name=lod=483 0 0.999 C 1.0 D 1.0 D 1.0 D 0.991081 D 4.83 82 13 0.137 128 0 0.000 9.20313483631662984e-06 0.615 --- 76,65,10,0.133 102,102,0,0.000 3.889 6.868 chr21 32492938 32492938 A G exonic TIAM1 synonymous SNV TIAM1:NM_003253:exon29:c.T4524C:p.D1508D Score=565;Name=lod=263 136 28 0.171 237 0 0.000 3.05138092005058883e-12 0.500 --- 151,125,26,0.172 209,209,0,0.000 10.401 14.654 chr21 33719339 33719339 A T exonic URB1 nonsynonymous SNV URB1:NM_014825:exon22:c.T3794A:p.L1265Q 0.2 234 61 0.207 324 0 0.000 6.22450195881736546e-22 0.590 --- 243,196,47,0.193 277,275,0,0.000 16.584 10.075 chr21 33755812 33755812 C T exonic URB1 synonymous SNV URB1:NM_014825:exon4:c.G486A:p.P162P 170 31 0.154 183 0 0.000 6.07334222481264317e-10 0.548 --- 157,135,22,0.140 145,145,0,0.000 6.519 7.425 chr21 34399999 34399999 G T exonic OLIG2 nonsynonymous SNV OLIG2:NM_005806:exon2:c.G829T:p.G277C Score=611;Name=lod=407 0.92872 N 1.0 D 0.558237 NA 0.858425 NA 0.137405 N 0.25 184 35 0.160 220 0 0.000 6.11893881306709348e-12 0.486 --- 184,152,32,0.174 183,183,0,0.000 9.973 7.237 chr21 35107395 35107395 T C exonic ITSN1 nonsynonymous SNV ITSN1:NM_001001132:exon5:c.T232C:p.F78L,ITSN1:NM_003024:exon5:c.T232C:p.F78L Score=521;Name=lod=175 0 0.997857 C 1.0 D 0.561509 NA 1.0 D 1.0E-6 N 5.23 62 21 0.253 101 0 0.000 1.1277238037186848e-08 0.619 --- 71,51,20,0.282 87,87,0,0.000 7.689 60 chr21 35468960 35468960 C T exonic SLC5A3 nonsynonymous SNV SLC5A3:NM_006933:exon2:c.C1463T:p.A488V Score=385;Name=lod=49 0.25 0.998803 C 0.86 T 0.0 B 1.0 D 0.003437 N 5.19 144 27 0.158 171 0 0.000 4.89204680851371129e-09 0.333 --- 139,117,22,0.158 148,148,0,0.000 7.331 6.535 chr21 36088748 36088748 G A exonic CLIC6 nonsynonymous SNV CLIC6:NM_053277:exon6:c.G2029A:p.A677T Score=304;Name=lod=23 0.04 0.999643 C 0.89 T 0.327 P 1.0 D 0.996079 D 5.28 68 13 0.160 111 0 0.000 7.34901825640486804e-06 0.308 --- 71,61,10,0.141 87,87,0,0.000 3.636 6.773 chr21 37747587 37747587 G A exonic MORC3 nonsynonymous SNV MORC3:NM_015358:exon17:c.G2813A:p.S938N Score=473;Name=lod=112 0 0.999594 C 0.900893 NA 0.956 D 1.0 D 0.209201 N 5.18 100 21 0.174 122 0 0.000 1.68571039643713852e-07 0.381 --- 100,84,16,0.160 104,104,0,0.000 5.242 8.781 chr21 37833403 37833403 C T exonic CLDN14 synonymous SNV CLDN14:NM_001146079:exon2:c.G591A:p.P197P,CLDN14:NM_012130:exon2:c.G591A:p.P197P,CLDN14:NM_001146077:exon3:c.G591A:p.P197P,CLDN14:NM_001146078:exon3:c.G591A:p.P197P,CLDN14:NM_144492:exon3:c.G591A:p.P197P 0.000077 142 32 0.184 198 0 0.000 5.20047702566130999e-12 0.375 --- 148,118,30,0.203 170,169,0,0.000 10.679 12.604 chr21 38494273 38494273 C A exonic TTC3 nonsynonymous SNV TTC3:NM_001001894:exon12:c.C1057A:p.L353I,TTC3:NM_003316:exon12:c.C1057A:p.L353I Score=670;Name=lod=707 0.06 0.973639 C 1.0 D 0.813 P 0.992768 N 0.015734 N 1.91 118 30 0.203 151 0 0.000 1.31982623611584316e-10 0.233 --- 129,103,26,0.202 132,132,0,0.000 8.572 10.788 chr21 42752006 42752006 G A exonic MX2 nonsynonymous SNV MX2:NM_002463:exon4:c.G505A:p.G169R Score=259;Name=lod=15 0.0009 ID=COSM245836;OCCURENCE=1(prostate) rs199686102 0 0.998651 C 1.0 D 0.997 D 0.994954 N 0.91184 D 3.96 153 36 0.190 221 0 0.000 1.07642194177627512e-13 0.528 --- 149,123,26,0.174 172,172,0,0.000 9.221 5.989 chr21 42861463 42861463 G A exonic TMPRSS2 nonsynonymous SNV TMPRSS2:NM_001135099:exon4:c.C407T:p.A136V,TMPRSS2:NM_005656:exon4:c.C296T:p.A99V rs201949634 0.25 0.05333 N 0.85 T 0.0 B 0.215253 N 0.226382 N -3.05 92 23 0.200 121 0 0.000 1.88591036106357277e-08 0.391 --- 89,69,19,0.216 99,99,0,0.000 6.719 11.002 chr21 43161931 43161931 C T exonic RIPK4 synonymous SNV RIPK4:NM_020639:exon8:c.G1422A:p.P474P Score=459;Name=lod=98 ID=COSM20495,COSM1414208;OCCURENCE=3(large_intestine) 191 31 0.140 248 0 0.000 2.43635434862460403e-11 0.387 --- 190,162,27,0.143 220,220,0,0.000 9.518 14.808 chr21 43291627 43291627 G A exonic PRDM15 stopgain PRDM15:NM_022115:exon4:c.C517T:p.R173X rs140920407 1 0.006531 N 0.828782 NA 0.525464 NA 0.734968 NA 1.0 A -1.78 117 13 0.100 140 0 0.000 5.39045744090552866e-05 0.385 --- 105,94,11,0.105 114,114,0,0.000 3.636 4.178 chr21 43319344 43319344 G A exonic C2CD2 nonsynonymous SNV C2CD2:NM_199050:exon12:c.C1223T:p.A408V,C2CD2:NM_015500:exon13:c.C1688T:p.A563V 0.26 0.854464 N 0.75 T 0.0010 B 1.0E-6 N 0.002144 N 2.46 125 24 0.161 137 0 0.000 6.76176614627807581e-08 0.625 --- 125,105,20,0.160 114,114,0,0.000 5.917 5.178 chr21 43691254 43691254 G A exonic ABCG1 nonsynonymous SNV ABCG1:NM_004915:exon3:c.G361A:p.G121R,ABCG1:NM_016818:exon3:c.G361A:p.G121R,ABCG1:NM_207174:exon3:c.G394A:p.G132R,ABCG1:NM_207629:exon3:c.G352A:p.G118R,ABCG1:NM_207627:exon4:c.G367A:p.G123R,ABCG1:NM_207628:exon5:c.G295A:p.G99R Score=369;Name=lod=42 0 0.999456 C 1.0 D 0.999 D 1.0 D 0.999755 D 4.64 95 16 0.144 110 0 0.000 1.70584578061771123e-05 0.500 --- 92,79,13,0.141 93,93,0,0.000 4.143 8.324 chr21 43714734 43714734 C T exonic ABCG1 nonsynonymous SNV ABCG1:NM_004915:exon14:c.C1772T:p.T591M,ABCG1:NM_016818:exon14:c.C1736T:p.T579M,ABCG1:NM_207174:exon14:c.C1769T:p.T590M,ABCG1:NM_207629:exon14:c.C1727T:p.T576M,ABCG1:NM_207627:exon15:c.C1742T:p.T581M,ABCG1:NM_207628:exon16:c.C1670T:p.T557M 0.11 0.997195 C 0.9 T 0.054 B 0.969975 N 0.010119 N 4.4 93 26 0.218 127 0 0.000 1.29818258694748945e-09 0.385 --- 96,75,21,0.219 103,103,0,0.000 7.199 14.477 chr21 44492158 44492158 G A exonic CBS nonsynonymous SNV CBS:NM_000071:exon3:c.C146T:p.P49L,CBS:NM_001178008:exon3:c.C146T:p.P49L,CBS:NM_001178009:exon3:c.C146T:p.P49L Score=295;Name=lod=21 0.000384 rs148865119 0 0.999585 C 1.0 D 0.997 D 1.0 D 0.801621 D 5.18 159 34 0.176 173 0 0.000 1.40631104447383891e-10 0.500 --- 162,136,26,0.160 142,142,0,0.000 7.278 10.426 chr21 44838265 44838265 G T exonic SIK1 stopgain SIK1:NM_173354:exon12:c.C1619A:p.S540X Score=259;Name=lod=15 0.999082 C 0.904007 NA 0.733093 NA 0.986858 N 1.0 A 4.56 251 44 0.149 314 0 0.000 2.36377030879611689e-15 0.455 --- 250,214,36,0.144 262,262,0,0.000 11.811 7.093 chr21 45752988 45752988 C A exonic C21orf2 nonsynonymous SNV C21orf2:NM_001271440:exon4:c.G301T:p.G101C,C21orf2:NM_001271441:exon4:c.G301T:p.G101C,C21orf2:NM_004928:exon4:c.G301T:p.G101C,C21orf2:NM_001271442:exon5:c.G178T:p.G60C Score=471;Name=lod=109 0 0.998325 C 0.97 D 0.311 P 1.0 D 0.998833 D 4.55 116 35 0.232 124 0 0.000 1.65038267190348848e-10 0.543 --- 127,96,31,0.244 96,96,0,0.000 8.336 11.375 chr21 47406560 47406560 C T exonic COL6A1 synonymous SNV COL6A1:NM_001848:exon4:c.C549T:p.G183G Score=525;Name=lod=181 169 26 0.133 196 0 0.000 5.69888073097000416e-09 0.538 --- 151,129,22,0.146 155,155,0,0.000 7.111 8.465 chr21 47558526 47558526 C T exonic FTCD nonsynonymous SNV FTCD:NM_006657:exon12:c.G1339A:p.A447T,FTCD:NM_206965:exon12:c.G1339A:p.A447T Score=455;Name=lod=94 0 0.94338 N 1.0 D 0.957 D 1.0 U 0.999043 D 2.24 110 23 0.173 111 0 0.000 4.56625817982366479e-07 0.478 --- 110,89,21,0.191 96,96,0,0.000 6.132 9.139 chr21 47836278 47836278 C T exonic PCNT nonsynonymous SNV PCNT:NM_006031:exon30:c.C6446T:p.A2149V 0.000077 rs147033992 0.41 0.807704 N 1.0 D 0.0010 B 0.777116 NA 1.27E-4 N -2.21 116 30 0.205 145 0 0.000 3.53934281708704908e-10 0.533 --- 123,98,25,0.203 129,129,0,0.000 8.390 60 chr21 48071740 48071740 G A exonic PRMT2 nonsynonymous SNV PRMT2:NM_001242865:exon7:c.G677A:p.R226H 0.16 170 39 0.187 227 0 0.000 4.59672101815592261e-14 0.744 --- 180,144,36,0.200 189,189,0,0.000 12.088 4.016 chr22 17472858 17472858 C T exonic GAB4 nonsynonymous SNV GAB4:NM_001037814:exon2:c.G383A:p.R128H Score=718;Name=lod=1099 ID=COSM304675;OCCURENCE=1(large_intestine) 0 0.966429 C 0.957574 NA 1.0 D 0.999999 U 0.999902 D 1.15 88 15 0.146 117 0 0.000 6.35485641336142709e-06 0.533 --- 89,75,13,0.148 95,94,0,0.000 4.317 6.734 chr22 18383650 18383650 T C exonic MICAL3 nonsynonymous SNV MICAL3:NM_001122731:exon6:c.A805G:p.I269V,MICAL3:NM_001136004:exon6:c.A805G:p.I269V,MICAL3:NM_015241:exon6:c.A805G:p.I269V Score=698;Name=lod=912 0 64 35 0.354 128 0 0.000 4.04135220670221499e-15 0.486 --- 69,48,21,0.304 104,103,0,0.000 9.254 60 chr22 19044676 19044676 C A splicing DGCR2 NM_001184781:exon7:c.617-1G>T,NM_001173534:exon6:c.494-1G>T,NM_001173533:exon6:c.503-1G>T,NM_005137:exon7:c.626-1G>T Score=336;Name=lod=31 97 31 0.242 145 0 0.000 7.09424061969798929e-12 0.323 --- 109,84,25,0.229 120,120,0,0.000 8.766 8.256 chr22 19126686 19126686 C T exonic DGCR14 nonsynonymous SNV DGCR14:NM_022719:exon6:c.G808A:p.A270T Score=495;Name=lod=137 0.01 0.997406 C 0.76 T 0.019 B 1.0 D 0.999844 D 4.48 203 48 0.191 226 0 0.000 4.86614443463428066e-15 0.604 --- 200,161,39,0.195 191,191,0,0.000 12.172 13.151 chr22 19711415 19711415 G A exonic GP1BB nonsynonymous SNV GP1BB:NM_000407:exon2:c.G49A:p.A17T 0.12 0.980049 C 0.80306 NA 0.448374 NA 0.783419 U 0.170985 N 1.81 90 15 0.143 125 0 0.000 4.3521052506547907e-06 0.667 --- 93,81,12,0.129 106,106,0,0.000 4.139 5.204 chr22 19789737 19789737 G A exonic GNB1L synonymous SNV GNB1L:NM_053004:exon7:c.C519T:p.A173A 66 15 0.185 81 0 0.000 2.99175196071433347e-05 0.267 --- 67,54,13,0.194 72,72,0,0.000 4.409 13.445 chr22 20043531 20043531 C T exonic TANGO2 nonsynonymous SNV TANGO2:NM_152906:exon6:c.C446T:p.T149M 0.01 0.97136 C 0.94 T 0.144 B 0.901457 N 0.004431 N 2.57 56 20 0.263 81 0 0.000 1.1333462131059402e-07 0.450 --- 62,47,15,0.242 65,64,0,0.000 5.044 14.593 chr22 20130995 20130995 C T exonic ZDHHC8 synonymous SNV ZDHHC8:NM_001185024:exon10:c.C1842T:p.P614P,ZDHHC8:NM_013373:exon10:c.C1842T:p.P614P Score=0.91749;Name=chr22:23723424 0.000154 rs201579380 283 36 0.113 305 0 0.000 1.37209421356112854e-11 0.583 --- 287,257,30,0.105 270,270,0,0.000 8.917 12.447 chr22 20796597 20796597 G A exonic KLHL22 synonymous SNV KLHL22:NM_032775:exon7:c.C1668T:p.R556R 0.002307 0.0005 0.025 rs145958380 195 36 0.156 196 0 0.000 6.88518151092235301e-11 0.472 --- 204,173,31,0.152 166,166,0,0.000 8.195 15.0 chr22 21332283 21332283 C T exonic AIFM3 nonsynonymous SNV AIFM3:NM_001018060:exon16:c.C1466T:p.A489V,AIFM3:NM_001146288:exon16:c.C1484T:p.A495V,AIFM3:NM_144704:exon16:c.C1466T:p.A489V Score=609;Name=lod=398 0 0.997523 C 0.99 D 0.783262 NA 1.0 D 0.999974 D 4.51 114 17 0.130 112 0 0.000 1.7386372393972178e-05 0.471 --- 102,89,12,0.119 94,94,0,0.000 3.427 9.069 chr22 21799636 21799636 C T exonic HIC2 nonsynonymous SNV HIC2:NM_015094:exon3:c.C452T:p.A151V 0.3 0.765593 N 0.66 T 0.0 B 0.981943 N 0.004046 N 1.12 221 54 0.196 287 0 0.000 9.08371304656353085e-19 0.426 --- 243,194,49,0.202 235,235,0,0.000 15.484 60 chr22 21991000 21991000 C A exonic CCDC116 synonymous SNV CCDC116:NM_152612:exon5:c.C1483A:p.R495R Score=265;Name=lod=16 192 35 0.154 240 1 0.004 5.84276922401435481e-11 0.657 1.000 199,167,32,0.161 201,200,1,0.005 9.012 12.742 chr22 22890977 22890977 C T exonic PRAME nonsynonymous SNV PRAME:NM_206953:exon5:c.G1042A:p.V348I,PRAME:NM_006115:exon6:c.G1042A:p.V348I,PRAME:NM_206954:exon6:c.G1042A:p.V348I,PRAME:NM_206955:exon6:c.G1042A:p.V348I,PRAME:NM_206956:exon6:c.G1042A:p.V348I 1 0.051519 N 0.17 T 0.0 B 0.816076 N 7.13E-4 N -3.51 143 43 0.231 176 0 0.000 2.69638865664940473e-14 0.395 --- 152,117,35,0.230 143,143,0,0.000 10.976 60 chr22 24452743 24452743 T G exonic CABIN1 synonymous SNV CABIN1:NM_001201429:exon9:c.T1032G:p.S344S,CABIN1:NM_001199281:exon10:c.T1182G:p.S394S,CABIN1:NM_012295:exon10:c.T1182G:p.S394S Score=533;Name=lod=195 103 18 0.149 118 0 0.000 3.92874553922304131e-06 0.000 --- 116,93,23,0.198 100,100,0,0.000 6.449 13.106 chr22 25282636 25282636 G A exonic SGSM1 nonsynonymous SNV SGSM1:NM_001098497:exon16:c.G1711A:p.V571M,SGSM1:NM_001098498:exon16:c.G1711A:p.V571M,SGSM1:NM_001039948:exon17:c.G1876A:p.V626M,SGSM1:NM_133454:exon17:c.G1876A:p.V626M Score=592;Name=lod=338 0.000163 0 151 35 0.188 184 0 0.000 1.00591848637666904e-11 0.571 --- 151,125,26,0.172 137,137,0,0.000 7.752 15.051 chr22 26707793 26707793 G A exonic SEZ6L nonsynonymous SNV SEZ6L:NM_001184773:exon8:c.G1741A:p.D581N,SEZ6L:NM_001184774:exon8:c.G1741A:p.D581N,SEZ6L:NM_001184775:exon8:c.G1741A:p.D581N,SEZ6L:NM_001184776:exon8:c.G1741A:p.D581N,SEZ6L:NM_001184777:exon8:c.G1741A:p.D581N,SEZ6L:NM_021115:exon8:c.G1741A:p.D581N Score=374;Name=lod=44 0.03 0.999485 C 0.86 T 0.994 D 0.999993 D 0.0 N 4.48 115 31 0.212 145 0 0.000 1.567037277794266e-10 0.581 --- 118,91,26,0.222 114,114,0,0.000 8.185 60 chr22 26747028 26747028 C T exonic SEZ6L synonymous SNV SEZ6L:NM_001184773:exon12:c.C2418T:p.C806C,SEZ6L:NM_001184774:exon12:c.C2418T:p.C806C,SEZ6L:NM_001184775:exon12:c.C2418T:p.C806C,SEZ6L:NM_001184777:exon12:c.C2418T:p.C806C,SEZ6L:NM_021115:exon12:c.C2418T:p.C806C Score=449;Name=lod=89 0.000077 106 20 0.159 155 0 0.000 4.38953582012901273e-08 0.750 --- 111,92,19,0.171 123,123,0,0.000 6.538 6.029 chr22 26888203 26888203 C T exonic TFIP11 nonsynonymous SNV TFIP11:NM_012143:exon15:c.G2290A:p.V764M,TFIP11:NM_001008697:exon16:c.G2290A:p.V764M 0.14 0.999206 C 0.93 T 0.0 B 0.971348 N 0.081532 N 3.98 164 45 0.215 225 0 0.000 3.34871595968263106e-16 0.378 --- 163,123,39,0.241 176,176,0,0.000 13.632 15.654 chr22 28378288 28378288 G A exonic TTC28 nonsynonymous SNV TTC28:NM_001145418:exon23:c.C7367T:p.A2456V 0.26 211 42 0.166 281 0 0.000 3.36745162291713354e-15 0.619 --- 217,177,38,0.177 220,220,0,0.000 12.418 11.763 chr22 29695792 29695792 C T exonic EWSR1 stopgain EWSR1:NM_001163286:exon15:c.C1714T:p.Q572X,EWSR1:NM_001163285:exon16:c.C1879T:p.Q627X,EWSR1:NM_005243:exon16:c.C1882T:p.Q628X,EWSR1:NM_013986:exon17:c.C1897T:p.Q633X Score=507;Name=lod=153 0.01 0.998356 C 0.903738 NA 0.735277 NA 0.999928 U 1.0 D 4.9 196 44 0.183 251 0 0.000 2.28308581861795265e-15 0.386 --- 198,162,36,0.182 203,203,0,0.000 11.803 9.836 chr22 29704663 29704663 G A exonic GAS2L1 nonsynonymous SNV GAS2L1:NM_152237:exon2:c.G568A:p.A190T 0.43 0.781742 N 0.43 T 0.0 B 0.061648 N 0.003415 N -0.79 115 26 0.184 145 0 0.000 2.85461246931436628e-09 0.385 --- 124,101,23,0.185 121,121,0,0.000 7.098 11.058 chr22 29876899 29876899 G A exonic NEFH synonymous SNV NEFH:NM_021076:exon1:c.G648A:p.L216L Score=477;Name=lod=116 140 35 0.200 191 0 0.000 8.49785713778195885e-13 0.629 --- 144,117,27,0.188 161,161,0,0.000 9.416 10.962 chr22 31679219 31679219 G A exonic PIK3IP1 stopgain PIK3IP1:NM_052880:exon6:c.C643T:p.R215X Score=598;Name=lod=359 1 0.999586 C 0.903836 NA 0.735487 NA 0.999972 D 1.0 D 5.17 117 35 0.230 165 1 0.006 2.18301042173733205e-11 0.429 0.000 127,100,27,0.213 133,132,1,0.008 7.827 60 chr22 32108919 32108919 T G exonic PRR14L synonymous SNV PRR14L:NM_173566:exon4:c.A4906C:p.R1636R 115 17 0.129 133 0 0.000 4.11981116878394707e-06 0.000 --- 134,106,28,0.209 120,120,0,0.000 8.411 10.299 chr22 32108920 32108920 T G exonic PRR14L synonymous SNV PRR14L:NM_173566:exon4:c.A4905C:p.L1635L 116 19 0.141 133 0 0.000 1.94216891338089825e-06 0.000 --- 135,107,28,0.207 120,120,0,0.000 8.068 5.208 chr22 32275724 32275724 C T exonic DEPDC5 nonsynonymous SNV DEPDC5:NM_001242897:exon35:c.C3719T:p.A1240V,DEPDC5:NM_001136029:exon37:c.C3992T:p.A1331V,DEPDC5:NM_014662:exon37:c.C3926T:p.A1309V,DEPDC5:NM_001242896:exon38:c.C4019T:p.A1340V Score=668;Name=lod=691 0.000081 0.03 0.983633 C 0.96 D 0.96 D 0.999999 N 5.6E-5 N 4.22 125 30 0.194 110 0 0.000 3.51175497386246443e-08 0.200 --- 136,110,26,0.191 95,95,0,0.000 6.280 9.689 chr22 36055005 36055005 C T exonic APOL6 nonsynonymous SNV APOL6:NM_030641:exon3:c.C394T:p.R132C 0.000846 0.0005 rs151167916 0.05 0.015559 N 0.902103 NA 0.985 D 6.56E-4 N 1.95E-4 N -7.27 199 36 0.153 221 1 0.005 2.16839029505290825e-10 0.417 1.000 189,160,29,0.153 179,178,1,0.006 7.596 10.843 chr22 36661404 36661404 C T exonic APOL1 synonymous SNV APOL1:NM_001136541:exon5:c.C468T:p.I156I,APOL1:NM_001136540:exon6:c.C522T:p.I174I,APOL1:NM_003661:exon6:c.C522T:p.I174I,APOL1:NM_145343:exon7:c.C570T:p.I190I Score=259;Name=lod=15 Score=0.909256;Name=chr22:36620662 188 34 0.153 206 0 0.000 5.76693432771112902e-11 0.500 --- 181,152,29,0.160 173,173,0,0.000 8.873 60 chr22 36684858 36684858 A G exonic MYH9 nonsynonymous SNV MYH9:NM_002473:exon33:c.T4685C:p.L1562P Score=632;Name=lod=493 0 0.998645 C 1.0 D 0.0010 B 0.999999 D 0.960573 D 5.2 178 24 0.119 178 0 0.000 1.36354186509459401e-07 0.458 --- 158,136,22,0.139 146,145,0,0.000 6.495 5.247 chr22 36705367 36705367 G A exonic MYH9 synonymous SNV MYH9:NM_002473:exon15:c.C1803T:p.H601H Score=456;Name=lod=95 66 18 0.214 89 0 0.000 7.89614151924805657e-07 0.444 --- 68,51,16,0.239 68,68,0,0.000 5.312 10.967 chr22 37158951 37158951 G A exonic IFT27 synonymous SNV IFT27:NM_001177701:exon6:c.C459T:p.S153S,IFT27:NM_006860:exon6:c.C456T:p.S152S 88 23 0.207 124 0 0.000 8.44531832673712194e-09 0.696 --- 85,68,17,0.200 95,95,0,0.000 5.946 11.275 chr22 37699372 37699372 C T exonic CYTH4 nonsynonymous SNV CYTH4:NM_013385:exon8:c.C625T:p.P209S Score=526;Name=lod=183 0.38 0.996268 C 0.59 T 0.0 B 0.98227 N 0.813438 D 4.13 254 35 0.121 225 0 0.000 7.54274961313267235e-10 0.457 --- 234,206,28,0.120 187,187,0,0.000 7.170 60 chr22 37875387 37875387 C T exonic MFNG nonsynonymous SNV MFNG:NM_001166343:exon3:c.G515A:p.R172H,MFNG:NM_002405:exon4:c.G557A:p.R186H Score=393;Name=lod=53 0.13 0.997751 C 0.93 T 0.0020 B 0.328959 N 0.065474 N 3.44 149 28 0.158 182 0 0.000 7.76968529486158589e-10 0.643 --- 150,123,25,0.169 150,150,0,0.000 8.083 10.828 chr22 37882078 37882078 C T exonic MFNG synonymous SNV MFNG:NM_001166343:exon1:c.G138A:p.P46P,MFNG:NM_002405:exon1:c.G138A:p.P46P 0.000077 rs201695392 155 36 0.188 206 0 0.000 5.50684553920739513e-13 0.417 --- 169,137,32,0.189 177,176,0,0.000 10.636 12.096 chr22 38154102 38154102 G A exonic TRIOBP nonsynonymous SNV TRIOBP:NM_007032:exon6:c.G1031A:p.R344H,TRIOBP:NM_138632:exon6:c.G1031A:p.R344H,TRIOBP:NM_001039141:exon16:c.G6170A:p.R2057H Score=272;Name=lod=17 0.000078 0.02 0.999544 C 0.88 T 0.997 D 0.977718 NA 0.644024 D 3.95 239 52 0.179 258 0 0.000 4.69093759068871456e-16 0.423 --- 243,201,42,0.173 216,216,0,0.000 12.297 6.68 chr22 38343386 38343386 A T exonic C22orf23 nonsynonymous SNV C22orf23:NM_001207062:exon3:c.T188A:p.L63Q,C22orf23:NM_032561:exon4:c.T251A:p.L84Q Score=363;Name=lod=40 0.01 0.99821 C 0.99 D 0.016 B 0.995007 N 0.454616 N 4.94 116 15 0.115 139 0 0.000 1.25576880466863809e-05 0.267 --- 106,93,13,0.123 110,110,0,0.000 4.192 7.987 chr22 38610706 38610706 G A exonic MAFF nonsynonymous SNV MAFF:NM_001161574:exon2:c.G229A:p.A77T,MAFF:NM_001161572:exon3:c.G316A:p.A106T,MAFF:NM_001161573:exon3:c.G316A:p.A106T,MAFF:NM_012323:exon3:c.G316A:p.A106T Score=701;Name=lod=945 0.09 0.998009 C 0.91 T 0.0 B 0.999861 D 0.238023 N 3.46 141 35 0.199 158 0 0.000 5.36693269600738144e-11 0.343 --- 156,121,34,0.219 133,133,0,0.000 9.908 10.328 chr22 39218619 39218619 C T exonic NPTXR nonsynonymous SNV NPTXR:NM_014293:exon5:c.G1498A:p.A500T Score=596;Name=lod=354 0.01 0.941794 N 1.0 D 0.215 P 0.995308 N 0.289388 N 2.41 104 24 0.188 132 0 0.000 1.22907279706559423e-08 0.542 --- 108,89,19,0.176 112,111,0,0.000 6.215 3.79 chr22 39414372 39414372 C A exonic APOBEC3C nonsynonymous SNV APOBEC3C:NM_014508:exon4:c.C553A:p.L185I 0 0.982583 C 1.0 D 0.956 D 0.873798 NA 5.45E-4 N 1.69 137 18 0.116 163 0 0.000 1.41051127032498515e-06 0.444 --- 119,104,15,0.126 135,134,1,0.007 4.035 8.848 chr22 39627779 39627779 C T exonic PDGFB nonsynonymous SNV PDGFB:NM_002608:exon4:c.G304A:p.E102K,PDGFB:NM_033016:exon4:c.G259A:p.E87K Score=624;Name=lod=458 0.03 0.997996 C 0.99 D 0.973 D 1.0 D 0.974873 D 4.71 99 26 0.208 137 0 0.000 9.683752514752725e-10 0.346 --- 113,89,24,0.212 117,117,0,0.000 8.011 13.33 chr22 39710736 39710736 G A exonic RPL3 synonymous SNV RPL3:NM_000967:exon6:c.C804T:p.R268R,RPL3:NM_001033853:exon6:c.C657T:p.R219R 215 25 0.104 188 0 0.000 5.96168418318767633e-07 0.560 --- 197,178,19,0.096 157,156,0,0.000 4.887 4.628 chr22 39883974 39883974 G A exonic MGAT3 nonsynonymous SNV MGAT3:NM_001098270:exon1:c.G622A:p.V208I,MGAT3:NM_002409:exon2:c.G622A:p.V208I Score=631;Name=lod=487 0.38 0.999661 C 0.694884 NA 0.0010 B 0.999991 D 0.104014 N 4.17 242 57 0.191 312 0 0.000 1.00054520792750593e-19 0.404 --- 255,210,44,0.173 270,270,0,0.000 14.750 60 chr22 40042758 40042758 T A exonic CACNA1I nonsynonymous SNV CACNA1I:NM_001003406:exon8:c.T1334A:p.I445N,CACNA1I:NM_021096:exon8:c.T1334A:p.I445N Score=743;Name=lod=1401 0 118 25 0.175 155 0 0.000 3.23288421990992775e-09 0.560 --- 130,107,23,0.177 143,142,1,0.007 6.608 14.574 chr22 40662888 40662888 G A exonic TNRC6B nonsynonymous SNV TNRC6B:NM_001162501:exon5:c.G2654A:p.R885Q,TNRC6B:NM_015088:exon5:c.G2654A:p.R885Q Score=591;Name=lod=336 0 175 46 0.208 225 0 0.000 6.70948945745943741e-16 0.304 --- 200,160,39,0.196 208,208,0,0.000 13.035 60 chr22 40816886 40816886 G C exonic MKL1 nonsynonymous SNV MKL1:NM_020831:exon10:c.C846G:p.H282Q Score=689;Name=lod=838 0.000077 0.01 0.865423 N 0.76 T 0.999 D 1.0 D 0.999949 D -1.69 198 54 0.214 273 0 0.000 2.24496093117366352e-19 0.556 --- 200,159,41,0.205 217,217,0,0.000 14.115 12.607 chr22 41527619 41527619 C T exonic EP300 nonsynonymous SNV EP300:NM_001429:exon6:c.C1510T:p.R504W Score=541;Name=lod=210 0 0.932707 N 0.99 D 0.999 D 0.999838 D 0.513392 D 3.13 137 22 0.138 173 0 0.000 4.10324674492418344e-08 0.364 --- 131,114,17,0.130 136,136,0,0.000 5.502 9.46 chr22 42262855 42262855 A G exonic SREBF2 nonsynonymous SNV SREBF2:NM_004599:exon2:c.A109G:p.N37D Score=574;Name=lod=287 0 0.996207 C 0.92 T 0.98 D 0.999968 D 0.962778 D 4.23 153 20 0.116 182 0 0.000 3.14192817303999539e-07 0.900 --- 153,135,18,0.118 167,166,0,0.000 5.983 7.107 chr22 42387591 42387591 T C exonic SEPT3 synonymous SNV SEPT3:NM_019106:exon7:c.T684C:p.L228L,SEPT3:NM_145733:exon7:c.T684C:p.L228L Score=450;Name=lod=90 63 16 0.203 47 0 0.000 0.000473551523657012255 0.688 --- 65,53,12,0.185 35,35,0,0.000 2.145 60 chr22 42610114 42610114 G A exonic TCF20 stopgain TCF20:NM_005650:exon1:c.C1198T:p.Q400X,TCF20:NM_181492:exon1:c.C1198T:p.Q400X Score=625;Name=lod=463 0 0.999681 C 0.903843 NA 0.735507 NA 0.999999 D 1.0 A 5.36 185 44 0.192 262 0 0.000 2.33303078238810904e-16 0.523 --- 205,164,41,0.200 222,222,0,0.000 14.068 60 chr22 43289601 43289601 T A exonic PACSIN2 nonsynonymous SNV PACSIN2:NM_001184970:exon3:c.A79T:p.T27S,PACSIN2:NM_001184971:exon3:c.A79T:p.T27S,PACSIN2:NM_007229:exon3:c.A79T:p.T27S Score=485;Name=lod=125 0 0.975736 C 0.92 T 0.072 B 0.999898 D 0.999428 D 3.64 96 22 0.186 138 0 0.000 1.24840167597863103e-08 0.409 --- 100,82,18,0.180 124,124,0,0.000 6.707 13.712 chr22 43529221 43529221 T C exonic MCAT nonsynonymous SNV MCAT:NM_173467:exon4:c.A1001G:p.Y334C Score=336;Name=lod=31 0 0.997623 C 1.0 D 1.0 D 0.999998 D 0.999902 D 5.11 162 43 0.210 148 0 0.000 1.04751217326153923e-11 0.535 --- 180,143,37,0.206 129,129,0,0.000 9.209 15.477 chr22 44893315 44893315 C T exonic LDOC1L nonsynonymous SNV LDOC1L:NM_032287:exon2:c.G122A:p.R41Q Score=393;Name=lod=53 0.12 0.996268 C 0.86 T 0.843 P 0.786091 N 0.027504 N 3.05 179 50 0.218 190 0 0.000 5.31071467748194588e-15 0.460 --- 202,158,44,0.218 170,170,0,0.000 12.561 15.955 chr22 45130951 45130951 G A exonic PRR5 synonymous SNV PRR5:NM_001017529:exon7:c.G315A:p.L105L,PRR5:NM_001017530:exon7:c.G315A:p.L105L,PRR5:NM_181333:exon7:c.G600A:p.L200L,PRR5:NM_001017528:exon8:c.G573A:p.L191L,PRR5:NM_015366:exon8:c.G573A:p.L191L,PRR5:NM_001198721:exon9:c.G669A:p.L223L Score=436;Name=lod=79 172 48 0.218 223 0 0.000 1.41125921027512913e-16 0.562 --- 188,145,42,0.225 189,189,0,0.000 13.874 60 chr22 45681836 45681836 C T exonic UPK3A nonsynonymous SNV UPK3A:NM_001167574:exon2:c.C67T:p.P23S,UPK3A:NM_006953:exon2:c.C67T:p.P23S Score=535;Name=lod=200 0 0.997896 C 1.0 D 0.994 D 1.0 D 0.560166 D 4.67 126 37 0.227 162 0 0.000 1.44929711518871888e-12 0.459 --- 136,109,27,0.199 135,135,0,0.000 8.449 6.795 chr22 46653601 46653601 T C exonic PKDREJ synonymous SNV PKDREJ:NM_006071:exon1:c.A5619G:p.L1873L 88 17 0.162 102 0 0.000 7.71884413543530535e-06 0.471 --- 92,77,15,0.163 88,88,0,0.000 4.464 60 chr22 46656153 46656153 C T exonic PKDREJ nonsynonymous SNV PKDREJ:NM_006071:exon1:c.G3067A:p.A1023T 0.7 0.040642 N 0.98 D 0.038 B 0.510578 N 0.012752 N -6.95 152 19 0.111 137 0 0.000 1.14889015786095118e-05 0.421 --- 145,129,16,0.110 119,119,0,0.000 4.077 10.496 chr22 46656831 46656831 G A exonic PKDREJ nonsynonymous SNV PKDREJ:NM_006071:exon1:c.C2389T:p.R797C 0.000461 0.0009 rs140368137 0.19 0.052719 N 0.85 T 0.014 B 7.02E-4 N 0.015535 N -9.8 79 20 0.202 105 0 0.000 1.75304856401482072e-07 0.550 --- 92,72,20,0.217 93,93,0,0.000 6.573 13.722 chr22 47189608 47189608 G A exonic TBC1D22A synonymous SNV TBC1D22A:NM_014346:exon3:c.G330A:p.G110G 0.000462 rs149181794 215 32 0.130 262 0 0.000 2.96351188275240992e-11 0.469 --- 202,177,25,0.124 216,216,0,0.000 8.250 6.411 chr22 50279184 50279184 C T exonic ZBED4 nonsynonymous SNV ZBED4:NM_014838:exon2:c.C1874T:p.P625L Score=259;Name=lod=15 0.000538 0.0005 rs144634675 0.32 0.998341 C 0.78 T 0.302 P 0.999526 D 0.61837 D 4.89 214 42 0.164 268 0 0.000 1.32041642755323864e-14 0.548 --- 221,183,38,0.172 225,225,0,0.000 12.350 60 chr22 50319159 50319159 C T exonic CRELD2 synonymous SNV CRELD2:NM_024324:exon9:c.C963T:p.D321D,CRELD2:NM_001135101:exon10:c.C1110T:p.D370D 0.000769 0.0014 rs138885694 135 37 0.215 120 0 0.000 6.41837991898200164e-10 0.784 --- 141,108,33,0.234 94,94,0,0.000 8.003 15.654 chr22 50832563 50832563 A G exonic PPP6R2 nonsynonymous SNV PPP6R2:NM_001242898:exon3:c.A226G:p.K76E,PPP6R2:NM_001242899:exon3:c.A226G:p.K76E,PPP6R2:NM_001242900:exon3:c.A226G:p.K76E,PPP6R2:NM_014678:exon3:c.A226G:p.K76E Score=486;Name=lod=126 0 0.997129 C 0.99 D 0.998 D 1.0 D 0.953044 D 4.49 204 28 0.121 180 0 0.000 7.0077744881571192e-08 0.464 --- 189,167,22,0.116 149,147,0,0.000 5.706 6.619 chr22 50895038 50895038 C T exonic SBF1 synonymous SNV SBF1:NM_002972:exon30:c.G3969A:p.R1323R Score=425;Name=lod=71 95 25 0.208 118 0 0.000 1.4964504277331484e-08 0.400 --- 97,78,19,0.196 98,98,0,0.000 6.188 9.757 chr22 51009686 51009686 T C exonic CPT1B synonymous SNV CPT1B:NM_001145134:exon14:c.A1674G:p.S558S,CPT1B:NM_001145137:exon14:c.A1776G:p.S592S,CPT1B:NM_001145135:exon15:c.A1776G:p.S592S,CPT1B:NM_001145136:exon15:c.A1533G:p.S511S,CPT1B:NM_004377:exon15:c.A1776G:p.S592S,CPT1B:NM_152245:exon15:c.A1776G:p.S592S,CPT1B:NM_152246:exon15:c.A1776G:p.S592S 207 58 0.219 235 0 0.000 3.85861792376660253e-18 0.448 --- 235,183,52,0.221 211,210,0,0.000 15.682 60 chr22 51043244 51043244 A G exonic MAPK8IP2 unknown UNKNOWN Score=573;Name=lod=284 0 181 21 0.104 172 0 0.000 2.63710253818753191e-06 0.524 --- 165,150,15,0.091 143,143,0,0.000 4.157 5.806 chr22 51044126 51044126 G A exonic MAPK8IP2 unknown UNKNOWN Score=426;Name=lod=72 0 170 30 0.150 203 0 0.000 2.27829988266890174e-10 0.500 --- 172,145,26,0.152 170,170,0,0.000 7.972 14.913 chr22 51064693 51064693 G A exonic ARSA nonsynonymous SNV ARSA:NM_000487:exon5:c.C868T:p.R290C,ARSA:NM_001085428:exon5:c.C610T:p.R204C,ARSA:NM_001085425:exon6:c.C868T:p.R290C,ARSA:NM_001085426:exon6:c.C868T:p.R290C,ARSA:NM_001085427:exon6:c.C868T:p.R290C Score=366;Name=lod=41 rs74315473 0.02 0.987178 C 0.95 T 1.0 D 0.999999 D 0.999939 D 3.79 175 36 0.171 183 0 0.000 4.46652626255830072e-11 0.361 --- 180,148,32,0.178 158,158,0,0.000 9.207 13.272 chr22 51159316 51159316 C T exonic SHANK3 nonsynonymous SNV SHANK3:NM_033517:exon21:c.C3013T:p.R1005W Score=546;Name=lod=221 0 58 7 0.108 128 0 0.000 0.000392691861569025448 1.000 --- 67,56,8,0.125 112,112,0,0.000 3.642 3.116 chrX 1464312 1464312 C T exonic IL3RA synonymous SNV IL3RA:NM_002183:exon3:c.C168T:p.A56A Score=0.999995;Name=chrY:1264234 71 12 0.145 81 0 0.000 0.000320208249504104836 0.333 --- 63,53,10,0.159 66,65,0,0.000 3.249 6.875 chrX 1505571 1505571 G A exonic SLC25A6 nonsynonymous SNV SLC25A6:NM_001636:exon4:c.C821T:p.A274V Score=648;Name=lod=573 Score=0.999995;Name=chrY:1264234 0.03 153 29 0.159 143 0 0.000 2.53345440693418995e-08 0.414 --- 148,123,24,0.163 114,114,0,0.000 6.094 9.938 chrX 1506201 1506201 C T exonic SLC25A6 nonsynonymous SNV SLC25A6:NM_001636:exon3:c.G710A:p.R237H Score=597;Name=lod=355 Score=0.999995;Name=chrY:1264234 0.000077 0 153 46 0.231 200 0 0.000 6.61755839876918178e-16 0.609 --- 168,127,41,0.244 165,165,0,0.000 13.226 12.954 chrX 1508153 1508153 G A exonic SLC25A6 synonymous SNV SLC25A6:NM_001636:exon2:c.C579T:p.G193G Score=599;Name=lod=362 Score=0.999995;Name=chrY:1264234 149 34 0.186 169 0 0.000 4.53202268845498892e-11 0.676 --- 155,126,29,0.187 149,148,0,0.000 8.967 8.257 chrX 1720031 1720031 C A exonic AKAP17A synonymous SNV AKAP17A:NM_005088:exon5:c.C1632A:p.G544G Score=0.999995;Name=chrY:1264234 251 33 0.116 285 0 0.000 4.08872508592862135e-11 0.545 --- 244,212,31,0.128 246,246,0,0.000 9.861 9.785 chrX 5827211 5827211 C T exonic NLGN4X nonsynonymous SNV NLGN4X:NM_020742:exon4:c.G695A:p.R232Q,NLGN4X:NM_181332:exon4:c.G695A:p.R232Q 0.1 0.991026 C 0.76 T 0.561 P 1.0 NA 0.992949 D 3.34 178 23 0.114 205 0 0.000 4.84076961004802233e-08 0.261 --- 161,140,21,0.130 163,163,0,0.000 6.683 7.98 chrX 11157215 11157215 T A exonic ARHGAP6 nonsynonymous SNV ARHGAP6:NM_013423:exon13:c.A2084T:p.Q695L,ARHGAP6:NM_013427:exon13:c.A2693T:p.Q898L 0.23 0.842975 N 0.99 D 0.931 D 0.481496 N 0.030526 N 1.72 284 67 0.191 351 0 0.000 4.1521779377698878e-22 0.522 --- 306,249,57,0.186 303,303,0,0.000 18.094 12.712 chrX 12627984 12627984 T C exonic FRMPD4 synonymous SNV FRMPD4:NM_014728:exon3:c.T303C:p.V101V Score=574;Name=lod=287 102 22 0.177 107 0 0.000 8.41021572030982268e-07 0.273 --- 104,82,20,0.196 87,87,0,0.000 5.495 9.721 chrX 12938902 12938902 A G exonic TLR8 synonymous SNV TLR8:NM_138636:exon2:c.A1743G:p.Q581Q 102 29 0.221 160 0 0.000 1.31484837730512462e-11 0.517 --- 109,83,26,0.239 131,131,0,0.000 9.712 12.758 chrX 14863162 14863162 T C exonic FANCB synonymous SNV FANCB:NM_152633:exon7:c.A1743G:p.V581V,FANCB:NM_001018113:exon8:c.A1743G:p.V581V Score=385;Name=lod=49 113 24 0.175 147 0 0.000 8.05600465239200611e-09 0.625 --- 113,91,22,0.195 123,123,0,0.000 7.548 11.977 chrX 15663126 15663126 A G exonic TMEM27 nonsynonymous SNV TMEM27:NM_020665:exon4:c.T230C:p.V77A Score=543;Name=lod=215 0.29 0.998341 C 0.3 T 0.252 P 0.955305 N 0.039903 N 5.02 63 7 0.100 92 0 0.000 0.00235303711283604564 0.286 --- 60,54,6,0.100 71,71,0,0.000 2.096 6.577 chrX 15794843 15794843 C A exonic CA5B nonsynonymous SNV CA5B:NM_007220:exon7:c.C625A:p.L209I 0.06 0.981846 C 0.81 T 0.06 B 0.998346 N 0.195577 N 4.44 78 17 0.179 86 0 0.000 9.52634706584866975e-06 0.706 --- 80,66,14,0.175 69,69,0,0.000 3.990 6.397 chrX 17750226 17750226 G A exonic NHS nonsynonymous SNV NHS:NM_198270:exon8:c.G4535A:p.R1512H,NHS:NM_001136024:exon9:c.G4067A:p.R1356H Score=515;Name=lod=165 0 0.999745 C 1.0 D 0.974 D 1.0 D 0.999062 D 5.53 163 54 0.249 210 0 0.000 3.68048313505908245e-18 0.463 --- 187,145,42,0.225 189,188,0,0.000 13.822 12.495 chrX 18221971 18221971 A G exonic BEND2 nonsynonymous SNV BEND2:NM_001184767:exon5:c.T557C:p.V186A,BEND2:NM_153346:exon5:c.T557C:p.V186A 0 0.130308 N 1.0 D 0.159 P 0.902875 N 4.96E-4 N -0.653 177 32 0.153 183 0 0.000 7.86564705032699155e-10 0.438 --- 171,144,26,0.153 150,150,0,0.000 7.552 4.488 chrX 18606074 18606074 C T exonic CDKL5 synonymous SNV CDKL5:NM_003159:exon9:c.C555T:p.G185G,CDKL5:NM_001037343:exon10:c.C555T:p.G185G Score=602;Name=lod=373 68 20 0.227 88 0 0.000 5.64683553423411124e-07 0.700 --- 75,57,17,0.230 77,77,0,0.000 5.725 8.249 chrX 19009014 19009014 G A exonic GPR64 nonsynonymous SNV GPR64:NM_001184835:exon26:c.C2908T:p.R970W,GPR64:NM_001079860:exon27:c.C2956T:p.R986W,GPR64:NM_001184836:exon27:c.C2950T:p.R984W,GPR64:NM_001184837:exon27:c.C2932T:p.R978W,GPR64:NM_001079859:exon28:c.C2980T:p.R994W,GPR64:NM_001184833:exon28:c.C2974T:p.R992W,GPR64:NM_001184834:exon28:c.C2869T:p.R957W,GPR64:NM_001079858:exon29:c.C3022T:p.R1008W,GPR64:NM_005756:exon29:c.C3013T:p.R1005W Score=525;Name=lod=182 0 0.971294 C 1.0 D 1.0 D 0.999938 D 0.857715 D 1.82 66 14 0.175 78 0 0.000 6.61041431442790191e-05 0.571 --- 67,51,14,0.215 62,62,0,0.000 4.235 9.173 chrX 19014185 19014185 C T exonic GPR64 synonymous SNV GPR64:NM_001184835:exon24:c.G2586A:p.R862R,GPR64:NM_001079860:exon25:c.G2634A:p.R878R,GPR64:NM_001184836:exon25:c.G2628A:p.R876R,GPR64:NM_001184837:exon25:c.G2610A:p.R870R,GPR64:NM_001079859:exon26:c.G2658A:p.R886R,GPR64:NM_001184833:exon26:c.G2652A:p.R884R,GPR64:NM_001079858:exon27:c.G2700A:p.R900R,GPR64:NM_001184834:exon27:c.G2700A:p.R900R,GPR64:NM_005756:exon27:c.G2691A:p.R897R Score=636;Name=lod=512 28 5 0.152 39 0 0.000 0.0169628169700213214 0.600 --- 26,21,5,0.192 29,29,0,0.000 1.723 5.234 chrX 19389526 19389526 G A exonic MAP3K15 synonymous SNV MAP3K15:NM_001001671:exon23:c.C3231T:p.D1077D Score=464;Name=lod=103 119 31 0.207 133 0 0.000 9.45276247055100356e-10 0.452 --- 122,96,25,0.207 114,114,0,0.000 7.715 8.686 chrX 20284743 20284743 A G exonic RPS6KA3 nonsynonymous SNV RPS6KA3:NM_004586:exon1:c.T8C:p.L3P Score=594;Name=lod=347 0 0.994246 C 1.0 D 0.813 P 0.709892 U 0.629252 D 3.83 45 11 0.196 93 0 0.000 1.07949808913613964e-05 0.091 --- 49,39,10,0.204 73,72,0,0.000 4.187 3.742 chrX 21674665 21674665 C T exonic KLHL34 synonymous SNV KLHL34:NM_153270:exon1:c.G1242A:p.A414A Score=480;Name=lod=119 221 72 0.246 306 0 0.000 2.69429700265689909e-25 0.472 --- 251,193,58,0.231 258,258,0,0.000 19.449 60 chrX 21674796 21674796 G T exonic KLHL34 nonsynonymous SNV KLHL34:NM_153270:exon1:c.C1111A:p.L371M Score=461;Name=lod=100 0.02 0.98844 C 0.95 T 0.919 D 0.990568 N 0.045 N 3.46 242 32 0.117 249 0 0.000 4.31100140895582476e-10 0.469 --- 240,213,27,0.112 216,216,0,0.000 7.825 13.831 chrX 21874773 21874773 G A exonic YY2 synonymous SNV YY2:NM_206923:exon1:c.G171A:p.P57P 195 45 0.188 285 0 0.000 4.28261854173877955e-17 0.511 --- 205,166,39,0.190 234,234,0,0.000 13.821 7.382 chrX 23018224 23018224 A G exonic DDX53 nonsynonymous SNV DDX53:NM_182699:exon1:c.A50G:p.D17G 0.26 0.769872 N 0.52 T 0.0030 B 0.004759 N 0.004838 N -0.13 197 56 0.221 254 0 0.000 4.00968215314878225e-19 0.786 --- 212,164,46,0.219 220,219,0,0.000 15.498 5.889 chrX 23019417 23019417 C T exonic DDX53 nonsynonymous SNV DDX53:NM_182699:exon1:c.C1243T:p.R415C 0 0.086093 N 1.0 D 1.0 D 1.0 D 0.999809 D -1.58 171 22 0.114 180 0 0.000 3.28510276047171313e-07 0.409 --- 168,149,19,0.113 154,154,0,0.000 5.523 10.724 chrX 23411088 23411088 T A exonic PTCHD1 nonsynonymous SNV PTCHD1:NM_173495:exon3:c.T1453A:p.C485S Score=721;Name=lod=1137 0.43 0.998451 C 0.16 T 0.277 P 0.999977 D 0.229299 N 5.58 127 28 0.181 145 0 0.000 2.87594627788695969e-09 0.357 --- 130,107,23,0.177 126,126,0,0.000 7.062 60 chrX 23725992 23725992 A T splicing ACOT9 NM_001033583:exon10:c.703+2T>A,NM_001037171:exon11:c.730+2T>A Score=505;Name=lod=151 76 14 0.156 81 0 0.000 8.94990506855258357e-05 0.500 --- 72,63,9,0.125 62,62,0,0.000 2.442 4.385 chrX 24006291 24006291 T C exonic KLHL15 nonsynonymous SNV KLHL15:NM_030624:exon4:c.A1562G:p.Q521R Score=738;Name=lod=1335 0.01 0.998462 C 0.99 D 0.16 P 0.999999 D 0.132059 N 5.59 132 26 0.165 163 0 0.000 3.17764239028865649e-09 0.538 --- 137,114,23,0.168 136,135,0,0.000 7.057 12.822 chrX 24024433 24024433 C T exonic KLHL15 synonymous SNV KLHL15:NM_030624:exon3:c.G378A:p.A126A 114 17 0.130 122 0 0.000 1.03134852263543658e-05 0.588 --- 117,101,16,0.137 100,99,0,0.000 4.456 10.512 chrX 24227165 24227165 C T exonic ZFX synonymous SNV ZFX:NM_001178095:exon7:c.C1242T:p.G414G ID=COSM1467300;OCCURENCE=1(large_intestine) 192 62 0.244 230 0 0.000 8.20863044663823224e-20 0.435 --- 213,161,50,0.237 194,194,0,0.000 15.329 60 chrX 24750571 24750571 G T exonic POLA1 nonsynonymous SNV POLA1:NM_016937:exon16:c.G1753T:p.V585F Score=552;Name=lod=234 0.04 0.999763 C 0.98 D 0.0080 B 0.999987 D 0.555871 NA 5.07 47 6 0.113 68 0 0.000 0.00597334054642380449 0.167 --- 41,36,5,0.122 53,53,0,0.000 1.865 3.693 chrX 25031462 25031462 G A exonic ARX nonsynonymous SNV ARX:NM_139058:exon2:c.C650T:p.A217V 0.25 0.996083 C 0.6 T 0.307529 NA 0.823158 U 0.008456 N 2.96 152 21 0.121 142 0 0.000 2.60579760874471301e-06 0.143 --- 137,119,18,0.131 115,115,0,0.000 4.726 4.115 chrX 27998893 27998893 G A exonic DCAF8L1 nonsynonymous SNV DCAF8L1:NM_001017930:exon1:c.C559T:p.R187C Score=507;Name=lod=154 Score=0.902387;Name=chrX:27764968 0.000189 rs200108741 0.05 8.71E-4 N 0.95 T 0.0 B 0.684079 N 0.212111 NA -1.58 252 44 0.149 313 0 0.000 2.77649210874464525e-15 0.523 --- 251,214,37,0.147 257,256,0,0.000 11.925 9.566 chrX 30326741 30326741 G A exonic NR0B1 nonsynonymous SNV NR0B1:NM_000475:exon1:c.C740T:p.A247V Score=533;Name=lod=195 0.05 0.869392 N 0.87 T 0.0 B 0.948223 N 0.35197 N 0.311 217 39 0.152 243 0 0.000 1.19591790358168161e-12 0.513 --- 222,186,36,0.162 209,209,0,0.000 10.985 9.52 chrX 30873553 30873553 C T exonic TAB3 nonsynonymous SNV TAB3:NM_152787:exon6:c.G229A:p.G77S Score=674;Name=lod=729 0.03 0.998936 C 0.94 T 0.955 D 1.0 D 0.999671 D 5.3 161 31 0.161 170 0 0.000 1.42963833648950233e-09 0.355 --- 162,136,26,0.160 152,152,0,0.000 7.865 7.994 chrX 32382704 32382704 G A exonic DMD nonsynonymous SNV DMD:NM_004011:exon8:c.C1126T:p.L376F,DMD:NM_004012:exon8:c.C1117T:p.L373F,DMD:NM_004007:exon35:c.C4780T:p.L1594F,DMD:NM_000109:exon36:c.C5125T:p.L1709F,DMD:NM_004006:exon36:c.C5149T:p.L1717F,DMD:NM_004009:exon36:c.C5137T:p.L1713F,DMD:NM_004010:exon36:c.C4780T:p.L1594F Score=405;Name=lod=59 0.05 0.992621 C 0.78 T 0.937 D 0.996617 U 0.0 N 4.27 84 32 0.276 124 0 0.000 6.06823131028647442e-12 0.531 --- 98,73,25,0.255 109,109,0,0.000 8.919 15.654 chrX 32430309 32430309 C T exonic DMD synonymous SNV DMD:NM_004011:exon1:c.G18A:p.L6L 103 16 0.134 154 0 0.000 9.25689701428424236e-07 0.375 --- 105,88,17,0.162 119,118,1,0.008 4.723 3.517 chrX 32490402 32490402 C T exonic DMD nonsynonymous SNV DMD:NM_004007:exon21:c.G2459A:p.R820H,DMD:NM_000109:exon22:c.G2804A:p.R935H,DMD:NM_004006:exon22:c.G2828A:p.R943H,DMD:NM_004009:exon22:c.G2816A:p.R939H,DMD:NM_004010:exon22:c.G2459A:p.R820H Score=433;Name=lod=77 0.13 0.973639 C 0.93 T 0.016 B 0.998504 U 0.0 N 2.58 105 31 0.228 165 0 0.000 2.44694925635884256e-12 0.323 --- 115,88,27,0.235 124,124,0,0.000 9.356 11.531 chrX 34150179 34150179 G A exonic FAM47A nonsynonymous SNV FAM47A:NM_203408:exon1:c.C217T:p.R73C 0.000189 ID=COSM268390;OCCURENCE=1(large_intestine) rs201264239 0.07 0.800488 N 0.9 T 0.014 B 0.780587 NA 0.006318 N 0.0584 282 55 0.163 315 0 0.000 1.71883998468146112e-17 0.345 --- 293,245,48,0.164 272,271,0,0.000 14.521 14.574 chrX 35966493 35966493 G A exonic CXorf22 nonsynonymous SNV CXorf22:NM_152632:exon4:c.G580A:p.V194M 0 0.999385 C 0.99 D 0.293 P 0.999997 D 0.057651 N 4.86 82 13 0.137 81 0 0.000 0.000243767180175790868 0.462 --- 75,65,10,0.133 68,68,0,0.000 2.805 9.133 chrX 35971784 35971784 C T exonic CXorf22 synonymous SNV CXorf22:NM_152632:exon7:c.C1122T:p.S374S 81 11 0.120 76 0 0.000 0.00110244761507078969 0.455 --- 78,68,10,0.128 68,68,0,0.000 2.757 4.641 chrX 40456845 40456845 C T exonic ATP6AP2 nonsynonymous SNV ATP6AP2:NM_005765:exon5:c.C463T:p.R155C Score=505;Name=lod=150 0.000189 ID=COSM166448;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) rs146371390 0 0.998981 C 0.95 T 0.97 D 1.0 D 0.999812 D 5.34 112 25 0.182 146 0 0.000 3.83922336359614285e-09 0.480 --- 108,85,22,0.206 115,113,0,0.000 7.423 14.122 chrX 41437760 41437760 C T exonic CASK nonsynonymous SNV CASK:NM_001126055:exon14:c.G1318A:p.V440I,CASK:NM_001126054:exon15:c.G1336A:p.V446I,CASK:NM_003688:exon15:c.G1336A:p.V446I Score=707;Name=lod=996 0.12 0.999036 C 0.93 T 0.891 D 0.999855 D 0.99999 D 5.39 82 15 0.155 86 0 0.000 4.81492206906484421e-05 0.400 --- 79,67,12,0.152 72,72,0,0.000 3.449 6.961 chrX 44942750 44942750 G C exonic KDM6A synonymous SNV KDM6A:NM_021140:exon23:c.G3330C:p.V1110V Score=705;Name=lod=975 103 18 0.149 106 0 0.000 6.8572481993066777e-06 0.556 --- 98,83,15,0.153 83,83,0,0.000 4.200 6.354 chrX 47272278 47272278 C T exonic ZNF157 nonsynonymous SNV ZNF157:NM_003446:exon4:c.C806T:p.T269I Score=426;Name=lod=72 0 0.993499 C 1.0 D 0.503 P 0.854942 NA 0.009435 N 2.55 135 21 0.135 176 0 0.000 6.0282830316194338e-08 0.619 --- 135,116,19,0.141 151,151,0,0.000 6.506 11.291 chrX 47433928 47433928 C T exonic SYN1 synonymous SNV SYN1:NM_006950:exon12:c.G1455A:p.P485P,SYN1:NM_133499:exon12:c.G1455A:p.P485P Score=553;Name=lod=235 103 30 0.226 179 0 0.000 9.49591603217458364e-13 0.333 --- 120,95,25,0.208 160,160,0,0.000 9.888 8.135 chrX 47498446 47498446 G A exonic ELK1 stopgain ELK1:NM_005229:exon3:c.C502T:p.Q168X,ELK1:NM_001114123:exon4:c.C502T:p.Q168X Score=541;Name=lod=211 Score=0.926543;Name=chr14:106011759 0.02 0.999447 C 0.903842 NA 0.735275 NA 0.998897 N 1.0 A 4.43 334 53 0.137 385 0 0.000 3.30026900976952718e-17 0.472 --- 335,287,48,0.143 337,337,0,0.000 15.302 6.968 chrX 48385643 48385643 C T exonic EBP nonsynonymous SNV EBP:NM_006579:exon4:c.C439T:p.R147C Score=432;Name=lod=76 0 0.999056 C 1.0 D 0.997 D 0.999966 N 0.790952 NA 5.41 200 58 0.225 197 0 0.000 2.35028507350940119e-16 0.483 --- 212,165,46,0.218 162,162,0,0.000 12.394 8.982 chrX 48418011 48418011 C T exonic TBC1D25 nonsynonymous SNV TBC1D25:NM_002536:exon6:c.C715T:p.R239W Score=545;Name=lod=218 0 0.21329 N 0.888107 NA 0.942 D 0.999963 D 0.627705 NA -2.64 152 29 0.160 177 0 0.000 1.15044926738166968e-09 0.586 --- 157,128,29,0.185 152,152,0,0.000 9.005 7.662 chrX 48542728 48542728 C T exonic WAS synonymous SNV WAS:NM_000377:exon2:c.C189T:p.H63H Score=567;Name=lod=268 189 36 0.160 189 0 0.000 7.67197021380465396e-11 0.500 --- 180,147,32,0.179 159,159,0,0.000 9.228 12.691 chrX 48559135 48559135 C T exonic SUV39H1 synonymous SNV SUV39H1:NM_003173:exon3:c.C819T:p.Y273Y Score=558;Name=lod=247 0.09 155 31 0.167 203 0 0.000 2.81351676741744401e-11 0.226 --- 168,138,29,0.174 175,175,0,0.000 9.619 13.455 chrX 48666541 48666541 G A exonic HDAC6 nonsynonymous SNV HDAC6:NM_006044:exon9:c.G734A:p.R245Q 1 0.960738 C 0.0 T 0.0030 B 0.946041 N 0.010375 N 2.36 80 17 0.175 117 0 0.000 6.23391292359772043e-07 0.353 --- 81,63,18,0.222 90,90,0,0.000 6.325 10.329 chrX 48687686 48687686 C T exonic ERAS synonymous SNV ERAS:NM_181532:exon2:c.C153T:p.G51G 202 27 0.118 277 0 0.000 2.07594428934441089e-10 0.556 --- 196,174,22,0.112 223,223,0,0.000 7.547 8.463 chrX 48693923 48693923 C T exonic PCSK1N synonymous SNV PCSK1N:NM_013271:exon1:c.G12A:p.S4S Score=526;Name=lod=183 57 9 0.136 54 0 0.000 0.00404836154905441699 0.444 --- 54,48,6,0.111 44,44,0,0.000 1.505 3.748 chrX 48751402 48751402 G A exonic TIMM17B synonymous SNV TIMM17B:NM_005834:exon5:c.C297T:p.T99T,TIMM17B:NM_001167947:exon6:c.C447T:p.T149T 140 38 0.213 140 0 0.000 3.98920605635023759e-11 0.368 --- 150,117,32,0.215 117,117,0,0.000 8.683 10.772 chrX 48759641 48759641 C T exonic PQBP1 stopgain PQBP1:NM_005710:exon4:c.C424T:p.R142X,PQBP1:NM_001032381:exon5:c.C424T:p.R142X,PQBP1:NM_001032382:exon5:c.C424T:p.R142X,PQBP1:NM_001032383:exon5:c.C424T:p.R142X,PQBP1:NM_001032384:exon5:c.C424T:p.R142X,PQBP1:NM_001167989:exon5:c.C424T:p.R142X,PQBP1:NM_001167990:exon5:c.C400T:p.R134X Score=405;Name=lod=59 1 0.983969 C 0.902697 NA 0.731723 NA 0.993189 N 1.0 A 3.95 220 38 0.147 308 0 0.000 2.19276976146707894e-14 0.526 --- 223,189,34,0.152 254,254,0,0.000 11.856 13.388 chrX 48760071 48760071 C T exonic PQBP1 nonsynonymous SNV PQBP1:NM_001167992:exon5:c.C340T:p.R114W,PQBP1:NM_005710:exon5:c.C640T:p.R214W,PQBP1:NM_144495:exon5:c.C355T:p.R119W,PQBP1:NM_001032381:exon6:c.C640T:p.R214W,PQBP1:NM_001032382:exon6:c.C640T:p.R214W,PQBP1:NM_001032383:exon6:c.C640T:p.R214W,PQBP1:NM_001032384:exon6:c.C640T:p.R214W,PQBP1:NM_001167989:exon6:c.C637T:p.R213W,PQBP1:NM_001167990:exon6:c.C616T:p.R206W Score=569;Name=lod=274 0 0.999159 C 0.99 D 0.999 D 1.0 D 0.99942 D 4.99 129 20 0.134 138 0 0.000 1.25100528313039896e-06 0.600 --- 124,108,16,0.129 117,117,0,0.000 4.699 10.979 chrX 48767115 48767115 G A exonic SLC35A2 synonymous SNV SLC35A2:NM_001032289:exon2:c.C250T:p.L84L,SLC35A2:NM_001042498:exon2:c.C250T:p.L84L,SLC35A2:NM_005660:exon2:c.C250T:p.L84L Score=555;Name=lod=240 111 20 0.153 111 0 0.000 4.08496601101637619e-06 0.850 --- 114,96,18,0.158 91,91,0,0.000 4.742 7.053 chrX 49048131 49048131 C T exonic SYP synonymous SNV SYP:NM_003179:exon6:c.G705A:p.A235A 193 48 0.199 241 0 0.000 5.27070808414370472e-16 0.417 --- 214,170,44,0.206 204,204,0,0.000 13.800 12.266 chrX 49054270 49054270 C T exonic SYP nonsynonymous SNV SYP:NM_003179:exon3:c.G131A:p.C44Y Score=593;Name=lod=343 0 0.995898 C 1.0 D 1.0 D 1.0 D 0.996983 D 4.05 195 25 0.114 197 0 0.000 6.06613152089784373e-08 0.440 --- 176,156,20,0.114 156,156,0,0.000 5.714 5.411 chrX 49958343 49958343 C A exonic AKAP4 nonsynonymous SNV AKAP4:NM_003886:exon5:c.G1021T:p.A341S,AKAP4:NM_139289:exon5:c.G994T:p.A332S Score=528;Name=lod=187 0.05 0.963862 C 0.92 T 0.882 D 0.999917 D 0.042709 N 3.61 182 55 0.232 247 0 0.000 2.35774366239589872e-19 0.491 --- 203,157,46,0.227 206,205,1,0.005 13.806 60 chrX 50119853 50119853 G T exonic DGKK unknown UNKNOWN Score=420;Name=lod=68 115 30 0.207 174 0 0.000 8.65351740253370579e-12 0.500 --- 125,98,27,0.216 139,139,0,0.000 9.485 9.458 chrX 50377399 50377399 G A exonic SHROOM4 synonymous SNV SHROOM4:NM_020717:exon4:c.C1674T:p.S558S 237 46 0.163 267 0 0.000 8.09048186245665421e-15 0.522 --- 235,195,40,0.170 218,218,0,0.000 12.145 15.654 chrX 53408001 53408001 G A exonic SMC1A nonsynonymous SNV SMC1A:NM_006306:exon23:c.C3445T:p.P1149S Score=587;Name=lod=324 0 0.999481 C 1.0 D 1.0 D 1.0 D 0.999961 D 4.69 45 10 0.182 49 0 0.000 0.00143544276302542729 0.400 --- 51,42,9,0.176 47,47,0,0.000 2.553 7.289 chrX 53436389 53436389 G A exonic SMC1A nonsynonymous SNV SMC1A:NM_006306:exon8:c.C1300T:p.R434W Score=637;Name=lod=516 ID=COSM292465;OCCURENCE=1(large_intestine) 0 0.999439 C 1.0 D 1.0 D 1.0 D 0.999948 D 3.47 78 12 0.133 88 0 0.000 0.000331506040137284898 0.417 --- 74,64,10,0.135 67,67,0,0.000 2.805 8.432 chrX 53455427 53455427 C A exonic RIBC1 synonymous SNV RIBC1:NM_001031745:exon5:c.C396A:p.T132T,RIBC1:NM_144968:exon5:c.C396A:p.T132T 123 25 0.169 134 0 0.000 3.71997583442237263e-08 0.320 --- 130,107,23,0.177 120,120,0,0.000 6.923 9.979 chrX 53966879 53966879 C T exonic PHF8 nonsynonymous SNV PHF8:NM_001184897:exon20:c.G2417A:p.R806H,PHF8:NM_001184896:exon21:c.G2828A:p.R943H,PHF8:NM_015107:exon21:c.G2720A:p.R907H Score=546;Name=lod=220 0.002651 0.0030 rs142630105 0.02 0.97517 C 0.88 T 0.722 P 0.984534 N 0.263154 N 2.76 74 11 0.129 86 0 0.000 0.000323541930645142201 0.364 --- 74,65,9,0.122 70,70,0,0.000 2.510 5.767 chrX 54209587 54209587 G C exonic FAM120C synonymous SNV FAM120C:NM_017848:exon1:c.C45G:p.P15P,FAM120C:NM_198456:exon1:c.C45G:p.P15P Score=627;Name=lod=472 138 26 0.159 203 0 0.000 2.45113534600167232e-10 0.308 --- 143,118,24,0.169 175,175,0,0.000 8.878 9.392 chrX 54482950 54482950 G A exonic FGD1 nonsynonymous SNV FGD1:NM_004463:exon9:c.C1687T:p.R563C Score=611;Name=lod=406 ID=COSM141640;OCCURENCE=1(upper_aerodigestive_tract) 0 0.999459 C 1.0 D 0.999 D 0.999919 D 0.279404 N 4.46 91 15 0.142 106 0 0.000 3.58495070674537355e-05 0.400 --- 86,74,12,0.140 91,91,0,0.000 3.945 5.936 chrX 54578283 54578283 G A exonic GNL3L nonsynonymous SNV GNL3L:NM_001184819:exon12:c.G1057A:p.V353I,GNL3L:NM_019067:exon12:c.G1057A:p.V353I 0.79 0.027225 N 0.0 T 0.0 B 0.96524 N 0.565723 D -3.65 79 33 0.295 131 0 0.000 4.05131617503475236e-13 0.364 --- 104,76,28,0.269 115,115,0,0.000 10.012 60 chrX 54950089 54950089 T C exonic TRO nonsynonymous SNV TRO:NM_001039705:exon3:c.T1124C:p.V375A,TRO:NM_016157:exon3:c.T1124C:p.V375A,TRO:NM_177556:exon3:c.T1124C:p.V375A 0.34 0.772506 N 0.22 T 0.062895 NA 0.800985 NA 1.1E-5 N 0.802 247 33 0.118 311 0 0.000 6.86314821451608118e-12 0.364 --- 245,213,32,0.131 259,259,0,0.000 10.507 11.844 chrX 55028756 55028756 C T exonic APEX2 nonsynonymous SNV APEX2:NM_014481:exon3:c.C314T:p.T105I Score=511;Name=lod=159 0.01 0.978023 C 0.92 T 0.191 P 0.998809 N 0.841548 D 2.39 218 30 0.121 257 0 0.000 2.10137235355925549e-10 0.633 --- 198,171,27,0.136 203,203,0,0.000 8.693 4.809 chrX 55172681 55172681 G A exonic FAM104B nonsynonymous SNV FAM104B:NM_001166699:exon3:c.C187T:p.P63S,FAM104B:NM_001166700:exon3:c.C187T:p.P63S,FAM104B:NM_001166701:exon3:c.C184T:p.P62S,FAM104B:NM_001166702:exon3:c.C175T:p.P59S,FAM104B:NM_001166703:exon3:c.C181T:p.P61S,FAM104B:NM_138362:exon3:c.C184T:p.P62S 0 0.876129 N 1.0 D 0.309 P 0.909241 U 0.003115 N 0.578 111 28 0.201 162 0 0.000 7.93751755296436698e-11 0.286 --- 120,94,26,0.217 139,139,0,0.000 9.393 15.256 chrX 57618873 57618873 A G exonic ZXDB nonsynonymous SNV ZXDB:NM_007157:exon1:c.A392G:p.E131G Score=0.93964;Name=chrX:57934186 0.02 0.986727 C 1.0 D 0.048 B 0.592264 N 2.96E-4 N 2.0 477 65 0.120 522 0 0.000 1.31648831454702161e-20 0.385 --- 468,410,57,0.122 445,444,0,0.000 17.293 3.065 chrX 63412539 63412539 A C exonic AMER1 nonsynonymous SNV AMER1:NM_152424:exon2:c.T628G:p.S210A 0.35 0.861653 N 0.72 T 0.312 P 9.22E-4 N 0.00337 N 1.73 285 48 0.144 305 0 0.000 8.06292669796143827e-15 0.417 --- 279,239,39,0.140 247,247,0,0.000 11.221 10.091 chrX 64743955 64743955 G A exonic LAS1L synonymous SNV LAS1L:NM_001170650:exon8:c.C1104T:p.I368I,LAS1L:NM_001170649:exon9:c.C1230T:p.I410I,LAS1L:NM_031206:exon10:c.C1281T:p.I427I Score=452;Name=lod=92 121 16 0.117 133 0 0.000 1.96049128311447789e-05 0.625 --- 123,109,14,0.114 118,118,0,0.000 4.068 5.712 chrX 66931426 66931426 C T exonic AR nonsynonymous SNV AR:NM_000044:exon4:c.C2068T:p.H690Y,AR:NM_001011645:exon4:c.C472T:p.H158Y Score=609;Name=lod=398 0.56 0.999016 C 0.5 T 0.995 D 1.0 D 0.99911 D 4.83 201 84 0.295 236 2 0.008 1.58554376710661811e-22 0.440 0.500 228,164,64,0.281 196,195,1,0.005 17.564 60 chrX 67426445 67426445 C T exonic OPHN1 synonymous SNV OPHN1:NM_002547:exon10:c.G903A:p.T301T 0.000095 87 12 0.121 97 0 0.000 0.00034400297267780479 0.500 --- 80,70,10,0.125 75,74,0,0.000 2.812 8.476 chrX 67937630 67937630 A T exonic STARD8 nonsynonymous SNV STARD8:NM_001142504:exon5:c.A634T:p.T212S,STARD8:NM_014725:exon5:c.A634T:p.T212S,STARD8:NM_001142503:exon6:c.A874T:p.T292S 0.4 0.060809 N 0.53 T 0.0 B 0.002724 N 0.0 N -4.65 236 116 0.330 337 0 0.000 2.86191894613234177e-39 0.431 --- 305,203,102,0.334 292,291,0,0.000 33.840 60 chrX 69478798 69478798 C T exonic P2RY4 nonsynonymous SNV P2RY4:NM_002565:exon1:c.G677A:p.R226H Score=468;Name=lod=106 ID=COSM194895;OCCURENCE=1(large_intestine) 0.03 0.997741 C 0.87 T 0.998 D 0.969914 U 0.372558 N 4.08 138 60 0.303 164 0 0.000 1.91652106441153539e-18 0.483 --- 166,114,52,0.313 141,141,0,0.000 15.732 60 chrX 69479051 69479051 G A exonic P2RY4 nonsynonymous SNV P2RY4:NM_002565:exon1:c.C424T:p.R142W Score=628;Name=lod=474 0.000095 ID=COSM457915;OCCURENCE=1(breast) 0 0.128224 N 0.99 D 0.906 D 0.996993 U 0.978325 D -2.95 221 38 0.147 190 0 0.000 2.64933586197786116e-10 0.526 --- 213,181,31,0.146 160,160,0,0.000 7.975 60 chrX 69497987 69497987 A G exonic ARR3 nonsynonymous SNV ARR3:NM_004312:exon11:c.A766G:p.T256A 0.13 0.953871 C 0.6 T 0.157 P 0.518808 N 0.053097 N 1.22 72 14 0.163 66 0 0.000 0.000293155501194937648 0.429 --- 86,72,11,0.133 65,63,0,0.000 2.602 10.56 chrX 69647034 69647034 C T exonic GDPD2 synonymous SNV GDPD2:NM_001171191:exon7:c.C513T:p.C171C,GDPD2:NM_001171193:exon8:c.C513T:p.C171C,GDPD2:NM_001171192:exon9:c.C750T:p.C250C,GDPD2:NM_017711:exon9:c.C750T:p.C250C Score=361;Name=lod=39 0.000189 rs145829747 58 20 0.256 96 0 0.000 2.31666507309704811e-08 0.600 --- 73,53,20,0.274 86,86,0,0.000 7.467 13.196 chrX 70325947 70325947 C A exonic CXorf65 nonsynonymous SNV CXorf65:NM_001025265:exon3:c.G153T:p.M51I 0.45 0.816359 N 0.56 T 0.0020 B 0.146327 N 0.012239 N 0.158 140 18 0.114 142 0 0.000 6.75537739078318945e-06 0.333 --- 131,116,15,0.115 110,110,0,0.000 4.114 11.819 chrX 70338641 70338641 C T exonic MED12 nonsynonymous SNV MED12:NM_005120:exon1:c.C37T:p.P13S Score=678;Name=lod=762 0.02 0.997494 C 0.98 D 0.999 D 0.999998 D 0.999927 D 4.18 90 33 0.268 114 0 0.000 3.83347029796443254e-11 0.545 --- 104,77,27,0.260 92,92,0,0.000 7.940 14.808 chrX 70339941 70339941 G T exonic MED12 nonsynonymous SNV MED12:NM_005120:exon4:c.G474T:p.W158C Score=561;Name=lod=253 0 0.999633 C 1.0 D 1.0 D 1.0 D 0.999998 D 4.74 179 31 0.148 177 0 0.000 2.24780635033113119e-09 0.484 --- 174,151,23,0.132 128,128,0,0.000 5.668 9.997 chrX 70356340 70356340 C T exonic MED12 synonymous SNV MED12:NM_005120:exon37:c.C5235T:p.P1745P Score=500;Name=lod=144 191 65 0.254 204 0 0.000 5.44028904956468629e-19 0.600 --- 218,162,56,0.257 171,171,0,0.000 15.472 8.054 chrX 70470377 70470377 C T exonic ZMYM3 synonymous SNV ZMYM3:NM_001171162:exon5:c.G978A:p.Q326Q,ZMYM3:NM_001171163:exon5:c.G978A:p.Q326Q,ZMYM3:NM_005096:exon5:c.G978A:p.Q326Q,ZMYM3:NM_201599:exon5:c.G978A:p.Q326Q Score=601;Name=lod=369 265 37 0.123 287 0 0.000 6.6566155022450908e-12 0.459 --- 254,221,33,0.130 230,230,0,0.000 9.687 6.16 chrX 70643855 70643855 A G exonic TAF1 nonsynonymous SNV TAF1:NM_004606:exon31:c.A4667G:p.K1556R,TAF1:NM_138923:exon31:c.A4604G:p.K1535R Score=635;Name=lod=506 0 0.99793 C 0.83 T 0.465 P 1.0 D 0.999986 D 4.8 114 20 0.149 80 0 0.000 5.47279656637716652e-05 0.700 --- 109,95,14,0.128 66,66,0,0.000 2.948 7.809 chrX 71359397 71359397 A G exonic NHSL2 nonsynonymous SNV NHSL2:NM_001013627:exon6:c.A1999G:p.T667A Score=675;Name=lod=738 0.19 0.98193 C 0.62 T 0.899 D 0.999992 D 0.163251 N 3.09 123 45 0.268 138 0 0.000 9.49041051985341311e-14 0.444 --- 150,109,41,0.273 129,129,0,0.000 12.309 15.955 chrX 71886017 71886017 A T exonic PHKA1 nonsynonymous SNV PHKA1:NM_001122670:exon8:c.T848A:p.I283N,PHKA1:NM_001172436:exon8:c.T848A:p.I283N,PHKA1:NM_002637:exon8:c.T848A:p.I283N Score=528;Name=lod=187 0 0.998919 C 1.0 D 0.999 D 1.0 D 0.999996 D 5.43 65 18 0.217 104 0 0.000 1.424265406756367e-07 0.556 --- 72,53,18,0.254 85,85,0,0.000 6.735 7.479 chrX 75649558 75649558 C T exonic MAGEE1 nonsynonymous SNV MAGEE1:NM_020932:exon1:c.C1235T:p.P412L 0 0.970962 C 1.0 D 0.996 D 0.875427 NA 0.019804 N 1.27 207 118 0.363 326 0 0.000 5.18905302272157666e-42 0.508 --- 276,178,98,0.355 293,293,0,0.000 35.496 60 chrX 76937124 76937124 T C exonic ATRX nonsynonymous SNV ATRX:NM_138270:exon8:c.A3510G:p.I1170M,ATRX:NM_000489:exon9:c.A3624G:p.I1208M Score=441;Name=lod=83 0.000095 0.1 0.902058 N 0.99 D 0.051 B 0.940291 N 0.026288 N 1.08 151 77 0.338 222 0 0.000 9.29170330828520831e-27 0.558 --- 188,121,66,0.353 186,185,0,0.000 22.590 13.968 chrX 77913218 77913218 T C exonic ZCCHC5 nonsynonymous SNV ZCCHC5:NM_152694:exon2:c.A700G:p.T234A 0.06 0.04677 N 0.74 T 0.0010 B 0.579279 NA 0.002637 N -3.64 181 93 0.339 292 0 0.000 2.95158117767889823e-34 0.538 --- 243,162,81,0.333 248,247,0,0.000 28.192 60 chrX 78010579 78010579 A G exonic LPAR4 synonymous SNV LPAR4:NM_005296:exon2:c.A213G:p.R71R Score=805;Name=lod=2486 121 21 0.148 119 0 0.000 2.10389164559497261e-06 0.429 --- 120,102,17,0.143 111,111,0,0.000 5.016 13.268 chrX 79939584 79939584 A T exonic BRWD3 nonsynonymous SNV BRWD3:NM_153252:exon37:c.T4158A:p.S1386R Score=678;Name=lod=759 0 0.790121 N 0.98 D 0.936 D 0.999945 D 0.026955 N 0.435 122 56 0.315 139 0 0.000 1.22723875661313842e-16 0.429 --- 138,93,45,0.326 106,106,0,0.000 12.752 60 chrX 83361965 83361965 A G exonic RPS6KA6 nonsynonymous SNV RPS6KA6:NM_014496:exon14:c.T1195C:p.Y399H Score=466;Name=lod=104 0.55 0.904946 N 0.41 T 0.0 B 0.979582 N 0.137563 N 1.26 86 28 0.246 136 0 0.000 3.6388904968497593e-11 0.536 --- 93,69,23,0.250 109,109,0,0.000 8.544 10.43 chrX 84362749 84362749 A G exonic SATL1 nonsynonymous SNV SATL1:NM_001012980:exon1:c.T1226C:p.I409T rs148786690 0.93 0.030337 N 0.68 T 0.213 P 0.587697 NA 9.66E-4 N -6.17 278 40 0.126 282 0 0.000 3.57456463884360535e-12 0.475 --- 272,238,32,0.119 248,247,0,0.000 9.413 8.713 chrX 84525923 84525923 A G exonic ZNF711 nonsynonymous SNV ZNF711:NM_021998:exon9:c.A1375G:p.S459G Score=645;Name=lod=555 1 0.997797 C 0.0 T 0.100847 NA 0.999945 U 0.425286 N 4.75 187 84 0.310 271 0 0.000 4.94370124658526622e-29 0.571 --- 241,166,75,0.311 221,221,0,0.000 24.029 60 chrX 85302501 85302501 G A exonic CHM synonymous SNV CHM:NM_000390:exon1:c.C36T:p.I12I,CHM:NM_001145414:exon1:c.C36T:p.I12I Score=539;Name=lod=206 90 36 0.286 100 0 0.000 6.02683695180568567e-11 0.583 --- 95,68,27,0.284 76,76,0,0.000 7.439 60 chrX 91133032 91133032 A T exonic PCDH11X nonsynonymous SNV PCDH11X:NM_001168360:exon2:c.A1793T:p.D598V,PCDH11X:NM_001168361:exon2:c.A1793T:p.D598V,PCDH11X:NM_001168362:exon2:c.A1793T:p.D598V,PCDH11X:NM_001168363:exon2:c.A1793T:p.D598V,PCDH11X:NM_014522:exon2:c.A1793T:p.D598V,PCDH11X:NM_032968:exon2:c.A1793T:p.D598V,PCDH11X:NM_032969:exon2:c.A1793T:p.D598V,PCDH11X:NM_032967:exon5:c.A1793T:p.D598V Score=617;Name=lod=428 Score=0.986611;Name=chrY:4829335 0 0.972775 C 1.0 D 1.0 D 1.0 D 0.996251 D 3.73 121 21 0.148 144 0 0.000 1.84307672533895926e-07 0.381 --- 130,111,19,0.146 129,129,0,0.000 5.726 60 chrX 91873693 91873693 C A exonic PCDH11X synonymous SNV PCDH11X:NM_001168362:exon5:c.C3687A:p.A1229A,PCDH11X:NM_001168363:exon5:c.C3744A:p.A1248A,PCDH11X:NM_001168360:exon6:c.C3774A:p.A1258A,PCDH11X:NM_032969:exon6:c.C3768A:p.A1256A,PCDH11X:NM_032968:exon7:c.C3798A:p.A1266A Score=0.986477;Name=chrY:5332187 279 60 0.177 361 0 0.000 6.66040932014755035e-21 0.600 --- 303,249,54,0.178 318,318,0,0.000 17.982 60 chrX 99657572 99657572 G T exonic PCDH19 nonsynonymous SNV PCDH19:NM_001105243:exon2:c.C2425A:p.Q809K,PCDH19:NM_020766:exon2:c.C2425A:p.Q809K,PCDH19:NM_001184880:exon3:c.C2566A:p.Q856K Score=699;Name=lod=925 0.2 0.999646 C 0.68 T 0.98 D 1.0 D 0.946687 D 5.29 140 21 0.130 162 0 0.000 2.22048738269085976e-07 0.571 --- 135,117,18,0.133 134,134,0,0.000 5.381 8.121 chrX 100667572 100667572 G A exonic HNRNPH2 nonsynonymous SNV HNRNPH2:NM_001032393:exon2:c.G596A:p.R199Q,HNRNPH2:NM_019597:exon2:c.G596A:p.R199Q Score=804;Name=lod=2473 Score=0.910809;Name=chr6:160133758 0.02 0.999619 C 0.95 T 0.972 D 1.0 D 0.993349 D 4.15 130 26 0.167 173 0 0.000 1.13800608131190406e-09 0.538 --- 138,115,23,0.167 149,149,0,0.000 7.764 11.512 chrX 100910932 100910932 G A exonic ARMCX2 nonsynonymous SNV ARMCX2:NM_014782:exon5:c.C1643T:p.T548I,ARMCX2:NM_177949:exon6:c.C1643T:p.T548I Score=646;Name=lod=565 0.02 0.99957 C 0.99 D 0.937 D 0.999997 D 0.177303 N 4.05 154 33 0.176 194 0 0.000 1.30558660999613432e-11 0.455 --- 164,134,29,0.178 154,153,0,0.000 8.859 8.848 chrX 101382123 101382123 C T exonic TCEAL2 synonymous SNV TCEAL2:NM_080390:exon3:c.C321T:p.D107D Score=0.924164;Name=chrX:102840968 106 14 0.117 148 0 0.000 8.36029864593104778e-06 0.571 --- 114,100,14,0.123 133,132,0,0.000 4.874 8.078 chrX 101970060 101970060 C T exonic ARMCX5-GPRASP2,GPRASP2 nonsynonymous SNV GPRASP2:NM_001184875:exon4:c.C263T:p.T88M,GPRASP2:NM_138437:exon4:c.C263T:p.T88M,GPRASP2:NM_001004051:exon5:c.C263T:p.T88M,GPRASP2:NM_001184874:exon5:c.C263T:p.T88M,GPRASP2:NM_001184876:exon5:c.C263T:p.T88M,ARMCX5-GPRASP2:NM_001199818:exon7:c.C263T:p.T88M 0.11 0.055204 N 0.97 D 0.026 B 0.472716 N 0.013418 N -5.21 334 66 0.165 445 0 0.000 1.69012944123910882e-23 0.500 --- 362,303,59,0.163 392,392,0,0.000 19.962 60 chrX 101971198 101971198 T G exonic ARMCX5-GPRASP2,GPRASP2 synonymous SNV GPRASP2:NM_001184875:exon4:c.T1401G:p.P467P,GPRASP2:NM_138437:exon4:c.T1401G:p.P467P,GPRASP2:NM_001004051:exon5:c.T1401G:p.P467P,GPRASP2:NM_001184874:exon5:c.T1401G:p.P467P,GPRASP2:NM_001184876:exon5:c.T1401G:p.P467P,ARMCX5-GPRASP2:NM_001199818:exon7:c.T1401G:p.P467P Score=304;Name=lod=23 309 36 0.104 348 0 0.000 4.73228495794141628e-12 0.500 --- 277,244,33,0.119 281,280,0,0.000 10.454 7.877 chrX 105167115 105167115 A G exonic NRK synonymous SNV NRK:NM_198465:exon18:c.A2616G:p.P872P Score=525;Name=lod=182 56 10 0.152 110 0 0.000 3.48316018407874108e-05 0.600 --- 52,43,9,0.173 87,87,0,0.000 4.047 8.502 chrX 107018441 107018441 C T exonic TSC22D3 nonsynonymous SNV TSC22D3:NM_198057:exon1:c.G209A:p.R70Q Score=554;Name=lod=237 ID=COSM1569783;OCCURENCE=1(large_intestine) 0 0.998817 C 1.0 D 0.985 D 0.999137 N 0.227665 N 4.87 187 46 0.197 253 0 0.000 1.5835613980930767e-16 0.609 --- 203,163,40,0.197 218,218,0,0.000 13.629 60 chrX 107869000 107869000 A G exonic COL4A5 nonsynonymous SNV COL4A5:NM_000495:exon35:c.A3082G:p.T1028A 0.63 0.975511 C 0.24 T 0.03648 NA 0.466377 N 2.78E-4 N 2.44 77 10 0.115 88 0 0.000 0.000700288728066455242 0.400 --- 69,62,7,0.101 67,67,0,0.000 1.874 5.724 chrX 107979138 107979138 C T exonic IRS4 nonsynonymous SNV IRS4:NM_003604:exon1:c.G437A:p.R146H Score=679;Name=lod=769 0 0.996163 C 1.0 D 0.758166 NA 0.999914 D 0.865875 D 3.59 145 45 0.237 195 0 0.000 7.88732998602531989e-16 0.578 --- 160,120,40,0.250 166,166,0,0.000 13.597 60 chrX 108619208 108619208 C T exonic GUCY2F nonsynonymous SNV GUCY2F:NM_001522:exon19:c.G3247A:p.G1083S Score=417;Name=lod=66 0.42 0.998936 C 0.54 T 0.324 P 0.989118 N 0.151316 N 4.22 77 21 0.214 109 0 0.000 4.29510408245781719e-08 0.524 --- 88,68,19,0.218 94,94,0,0.000 6.541 7.447 chrX 108718557 108718557 A G exonic GUCY2F synonymous SNV GUCY2F:NM_001522:exon2:c.T609C:p.N203N 111 33 0.229 154 0 0.000 4.44665137618421356e-12 0.576 --- 126,99,27,0.214 133,133,0,0.000 9.144 15.654 chrX 109459843 109459843 C T exonic AMMECR1 nonsynonymous SNV AMMECR1:NM_001025580:exon2:c.G491A:p.R164H,AMMECR1:NM_015365:exon3:c.G602A:p.R201H,AMMECR1:NM_001171689:exon5:c.G233A:p.R78H Score=714;Name=lod=1059 0 0.999038 C 1.0 D 1.0 D 1.0 D 0.999996 D 5.4 77 10 0.115 98 0 0.000 0.000395988417964907115 0.500 --- 69,62,7,0.101 79,79,0,0.000 2.394 6.217 chrX 111914251 111914251 G A exonic LHFPL1 nonsynonymous SNV LHFPL1:NM_178175:exon2:c.C368T:p.A123V Score=529;Name=lod=188 0.93 0.999637 C 0.16 T 0.0010 B 0.999998 D 0.829363 D 4.74 132 30 0.185 208 0 0.000 3.31081048623909223e-12 0.567 --- 139,115,24,0.173 168,168,0,0.000 8.774 6.975 chrX 112048241 112048241 T C exonic AMOT synonymous SNV AMOT:NM_001113490:exon5:c.A1710G:p.R570R,AMOT:NM_133265:exon6:c.A483G:p.R161R Score=558;Name=lod=247 130 28 0.177 169 0 0.000 3.6866655619668266e-10 0.393 --- 141,118,23,0.163 142,142,0,0.000 7.384 11.857 chrX 114425966 114425966 C T exonic RBMXL3 synonymous SNV RBMXL3:NM_001145346:exon1:c.C1962T:p.H654H Score=309;Name=lod=24 0.004444 324 51 0.136 401 0 0.000 1.18705411913138752e-17 0.392 --- 354,282,69,0.197 360,354,0,0.000 22.517 8.959 chrX 117033013 117033013 T C exonic KLHL13 nonsynonymous SNV KLHL13:NM_001168300:exon7:c.A1808G:p.Y603C,KLHL13:NM_001168303:exon7:c.A1700G:p.Y567C,KLHL13:NM_033495:exon7:c.A1826G:p.Y609C,KLHL13:NM_001168299:exon8:c.A1835G:p.Y612C,KLHL13:NM_001168301:exon8:c.A1778G:p.Y593C,KLHL13:NM_001168302:exon8:c.A1778G:p.Y593C Score=600;Name=lod=365 0 0.998214 C 1.0 D 1.0 D 1.0 D 0.99896 D 4.9 144 38 0.209 174 0 0.000 1.17594994335877539e-12 0.500 --- 157,124,33,0.210 155,155,0,0.000 10.444 60 chrX 117480536 117480536 C A exonic WDR44 nonsynonymous SNV WDR44:NM_001184965:exon1:c.C70A:p.P24T,WDR44:NM_001184966:exon1:c.C70A:p.P24T,WDR44:NM_019045:exon1:c.C70A:p.P24T Score=265;Name=lod=16 0 0.998189 C 1.0 D 0.777 P 0.994818 N 0.158465 N 4.28 79 14 0.151 117 0 0.000 6.20728604881907052e-06 0.500 --- 74,60,14,0.189 86,86,0,0.000 5.004 9.363 chrX 117960018 117960018 G A exonic ZCCHC12 nonsynonymous SNV ZCCHC12:NM_173798:exon4:c.G811A:p.D271N 0.11 0.909015 N 1.0 D 0.0030 B 0.818193 NA 0.092213 N 0.786 244 47 0.162 318 0 0.000 1.02426518487843285e-16 0.660 --- 256,209,43,0.171 254,254,0,0.000 13.872 15.955 chrX 118108811 118108811 C T exonic LONRF3 nonsynonymous SNV LONRF3:NM_001031855:exon1:c.C68T:p.S23L,LONRF3:NM_024778:exon1:c.C68T:p.S23L 0.000095 rs200569560 0.59 0.99848 C 1.0 D 0.0 B 0.291382 N 6.1E-5 N 3.14 144 45 0.238 181 0 0.000 4.46706027657624926e-15 0.733 --- 163,123,40,0.245 142,142,0,0.000 11.947 60 chrX 118145804 118145804 T A exonic LONRF3 nonsynonymous SNV LONRF3:NM_024778:exon7:c.T1556A:p.V519E,LONRF3:NM_001031855:exon8:c.T1679A:p.V560E Score=557;Name=lod=245 0 0.998636 C 1.0 D 0.999 D 1.0 D 0.978918 D 5.72 95 26 0.215 120 0 0.000 6.61904297626842817e-09 0.654 --- 106,84,21,0.200 101,101,0,0.000 6.472 13.355 chrX 118893455 118893455 G A exonic SOWAHD synonymous SNV SOWAHD:NM_001105576:exon1:c.G825A:p.T275T 199 40 0.167 230 0 0.000 4.01880596029926337e-13 0.375 --- 207,172,35,0.169 192,192,0,0.000 10.609 12.844 chrX 119077341 119077341 C T exonic NKAP synonymous SNV NKAP:NM_024528:exon1:c.G228A:p.S76S ID=COSM456622;OCCURENCE=1(breast) 257 43 0.143 317 0 0.000 6.47046343420377792e-15 0.628 --- 261,220,41,0.157 259,259,0,0.000 12.779 14.492 chrX 122319797 122319797 G A exonic GRIA3 nonsynonymous SNV GRIA3:NM_000828:exon2:c.G223A:p.V75I,GRIA3:NM_001256743:exon2:c.G223A:p.V75I,GRIA3:NM_007325:exon2:c.G223A:p.V75I Score=645;Name=lod=555 ID=COSM268402,COSM268401;OCCURENCE=1(large_intestine) 0.18 0.99966 C 0.82 T 0.0020 B 1.0 D 0.977717 D 5.32 88 22 0.200 118 0 0.000 3.25520535670001876e-08 0.409 --- 97,76,21,0.216 88,88,0,0.000 6.349 14.913 chrX 123787439 123787439 T C exonic TENM1 nonsynonymous SNV TENM1:NM_001163278:exon7:c.A1363G:p.T455A,TENM1:NM_001163279:exon7:c.A1360G:p.T454A,TENM1:NM_014253:exon7:c.A1363G:p.T455A Score=497;Name=lod=139 ID=COSM1218313;OCCURENCE=1(large_intestine) 0.28 0.997842 C 0.81 T 0.329 P 1.0 D 0.752543 D 5.23 91 20 0.180 108 0 0.000 7.66581115466956908e-07 0.550 --- 95,77,18,0.189 92,92,0,0.000 5.490 5.079 chrX 127185339 127185339 T A exonic ACTRT1 nonsynonymous SNV ACTRT1:NM_138289:exon1:c.A847T:p.I283F Score=429;Name=lod=74 0 0.996145 C 1.0 D 0.955 D 0.999995 D 0.997547 D 3.52 183 57 0.237 240 0 0.000 3.16776442209559402e-19 0.579 --- 212,162,50,0.236 198,197,1,0.005 13.997 60 chrX 129484694 129484694 G A exonic SLC25A14 nonsynonymous SNV SLC25A14:NM_003951:exon5:c.G487A:p.D163N,SLC25A14:NM_022810:exon5:c.G478A:p.D160N Score=425;Name=lod=71 0 0.999632 C 1.0 D 0.131 B 1.0 D 0.99991 D 4.73 38 7 0.156 67 0 0.000 0.00125261557762985435 0.429 --- 35,29,6,0.171 48,48,0,0.000 2.366 5.509 chrX 129543262 129543262 C T exonic RBMX2 nonsynonymous SNV RBMX2:NM_016024:exon4:c.C205T:p.R69W Score=549;Name=lod=227 ID=COSM217466;OCCURENCE=2(liver),1(large_intestine) 0.05 0.810779 N 1.0 D 0.08 B 0.999997 D 0.999994 D 2.22 80 28 0.259 122 0 0.000 7.63878268003133137e-11 0.643 --- 82,61,21,0.256 100,100,0,0.000 7.969 11.118 chrX 130410079 130410079 G A exonic IGSF1 nonsynonymous SNV IGSF1:NM_001170962:exon14:c.C2725T:p.R909W,IGSF1:NM_001170961:exon15:c.C2767T:p.R923W,IGSF1:NM_001555:exon15:c.C2752T:p.R918W Score=284;Name=lod=19 rs201712796 0 0.999677 C 1.0 D 0.65 P 0.001918 N 2.6E-5 N 5.03 136 27 0.166 169 0 0.000 1.37964066492524152e-09 0.630 --- 140,118,22,0.157 135,135,0,0.000 6.680 12.197 chrX 133378987 133378987 A T exonic CCDC160 stopgain CCDC160:NM_001101357:exon2:c.A157T:p.R53X 0.24 86 28 0.246 130 0 0.000 7.47876517151066602e-11 0.464 --- 95,72,22,0.234 106,105,1,0.009 6.485 12.398 chrX 133379589 133379589 G T exonic CCDC160 nonsynonymous SNV CCDC160:NM_001101357:exon2:c.G759T:p.E253D 0.34 131 18 0.121 174 0 0.000 4.97427662573718464e-07 0.444 --- 132,118,14,0.106 144,143,1,0.007 3.629 11.885 chrX 135067874 135067874 C T exonic SLC9A6 synonymous SNV SLC9A6:NM_001042537:exon1:c.C213T:p.S71S,SLC9A6:NM_006359:exon1:c.C213T:p.S71S,SLC9A6:NM_001177651:exon2:c.C57T:p.S19S Score=666;Name=lod=681 142 48 0.253 224 0 0.000 1.48113753063122291e-18 0.417 --- 159,124,35,0.220 181,181,0,0.000 12.523 60 chrX 136649301 136649301 G A exonic ZIC3 nonsynonymous SNV ZIC3:NM_003413:exon1:c.G451A:p.A151T Score=578;Name=lod=298 0.05 0.985613 C 0.81 T 0.0010 B 0.99999 D 0.00294 N 0.811 292 83 0.221 385 0 0.000 1.9468006983434682e-28 0.506 --- 324,254,70,0.216 347,346,0,0.000 23.962 60 chrX 137715055 137715055 C A exonic FGF13 nonsynonymous SNV FGF13:NM_004114:exon5:c.G694T:p.V232L,FGF13:NM_033642:exon5:c.G535T:p.V179L,FGF13:NM_001139498:exon6:c.G556T:p.V186L,FGF13:NM_001139502:exon6:c.G637T:p.V213L,FGF13:NM_001139500:exon7:c.G724T:p.V242L,FGF13:NM_001139501:exon8:c.G637T:p.V213L Score=614;Name=lod=416 0.07 0.979157 C 0.99 D 0.0 B 0.999942 D 0.864868 D 4.31 151 31 0.170 173 0 0.000 3.05515236021917956e-10 0.516 --- 145,117,28,0.193 132,132,0,0.000 8.447 7.481 chrX 138850575 138850575 C T exonic ATP11C synonymous SNV ATP11C:NM_001010986:exon20:c.G2244A:p.Q748Q,ATP11C:NM_173694:exon20:c.G2244A:p.Q748Q Score=496;Name=lod=138 82 22 0.212 119 0 0.000 1.37446667545207591e-08 0.136 --- 91,71,20,0.220 97,97,0,0.000 6.827 8.915 chrX 140985039 140985039 G A exonic MAGEC3 nonsynonymous SNV MAGEC3:NM_177456:exon5:c.G601A:p.G201R,MAGEC3:NM_138702:exon7:c.G1495A:p.G499R 0.81 0.035154 N 0.42 T 0.024 B 0.592366 NA 0.020973 N -2.02 185 37 0.167 262 1 0.004 1.0719068392565822e-12 0.595 1.000 187,151,35,0.188 220,219,1,0.005 11.357 60 chrX 140996357 140996357 A T exonic MAGEC1 nonsynonymous SNV MAGEC1:NM_005462:exon4:c.A3167T:p.Y1056F 0.01 0.147901 N 0.99 D 0.999 D 0.647962 NA 0.001154 N -0.581 169 21 0.111 168 0 0.000 1.02545797566807976e-06 0.476 --- 164,146,18,0.110 140,139,0,0.000 4.977 8.729 chrX 148044368 148044368 T A exonic AFF2 synonymous SNV AFF2:NM_001170628:exon10:c.T1737A:p.G579G,AFF2:NM_001169122:exon12:c.T2715A:p.G905G,AFF2:NM_001169124:exon12:c.T2709A:p.G903G,AFF2:NM_001169125:exon12:c.T2697A:p.G899G,AFF2:NM_001169123:exon13:c.T2784A:p.G928G,AFF2:NM_002025:exon13:c.T2814A:p.G938G Score=289;Name=lod=20 116 27 0.189 137 0 0.000 4.47739756099740356e-09 0.593 --- 110,90,20,0.182 112,112,0,0.000 6.515 13.041 chrX 149905818 149905818 A T exonic MTMR1 synonymous SNV MTMR1:NM_003828:exon11:c.A1347T:p.T449T 124 20 0.139 155 0 0.000 2.16372646522229572e-07 0.550 --- 121,101,19,0.158 122,122,0,0.000 6.126 13.11 chrX 151869503 151869503 C T exonic MAGEA6 nonsynonymous SNV MAGEA6:NM_005363:exon3:c.C193T:p.P65S,MAGEA6:NM_175868:exon3:c.C193T:p.P65S Score=0.991089;Name=chrX:151907248 0.3 0.118296 N 0.73 T 0.993 D 0.987013 N 0.002112 N -1.07 97 22 0.185 113 0 0.000 1.89493621216623666e-07 1.000 --- 120,98,22,0.183 112,112,0,0.000 6.669 8.727 chrX 151900519 151900519 C T exonic MAGEA12 synonymous SNV MAGEA12:NM_005367:exon2:c.G282A:p.G94G,MAGEA12:NM_001166386:exon3:c.G282A:p.G94G,MAGEA12:NM_001166387:exon3:c.G282A:p.G94G Score=0.914748;Name=chrX:151917031 150 22 0.128 186 0 0.000 4.70977491333489672e-08 0.455 --- 146,126,20,0.137 160,160,0,0.000 6.744 10.405 chrX 151900587 151900587 G A exonic MAGEA12 nonsynonymous SNV MAGEA12:NM_005367:exon2:c.C214T:p.P72S,MAGEA12:NM_001166386:exon3:c.C214T:p.P72S,MAGEA12:NM_001166387:exon3:c.C214T:p.P72S Score=0.914748;Name=chrX:151917031 0.37 0.758471 N 0.1 T 0.0040 B 0.016714 N 3.85E-4 N -0.802 154 30 0.163 177 0 0.000 6.00688630135412945e-10 0.633 --- 161,135,26,0.161 156,156,0,0.000 7.970 14.612 chrX 152087589 152087589 A T exonic ZNF185 nonsynonymous SNV ZNF185:NM_001178113:exon2:c.A89T:p.E30V,ZNF185:NM_001178106:exon7:c.A494T:p.E165V,ZNF185:NM_001178107:exon7:c.A494T:p.E165V,ZNF185:NM_001178108:exon7:c.A494T:p.E165V,ZNF185:NM_001178109:exon7:c.A494T:p.E165V,ZNF185:NM_001178110:exon7:c.A494T:p.E165V,ZNF185:NM_007150:exon7:c.A494T:p.E165V Score=284;Name=lod=19 ID=COSM206322,COSM206321;OCCURENCE=1(oesophagus),1(large_intestine),1(central_nervous_system) 0 63 24 0.276 101 0 0.000 1.29639645064550866e-09 0.500 --- 71,51,19,0.271 85,81,0,0.000 7.000 6.655 chrX 152686346 152686346 C T exonic ZFP92 nonsynonymous SNV ZFP92:NM_001136273:exon4:c.C511T:p.R171C Score=363;Name=lod=40 376 42 0.100 409 0 0.000 1.69356741380466962e-13 0.429 --- 374,334,38,0.102 358,356,0,0.000 11.435 14.046 chrX 152954066 152954066 G A exonic SLC6A8 nonsynonymous SNV SLC6A8:NM_001142805:exon1:c.G37A:p.V13M,SLC6A8:NM_005629:exon1:c.G37A:p.V13M Score=457;Name=lod=96 Score=0.954325;Name=chr16:32872609 0 0.881431 N 1.0 D 0.036 B 0.799102 NA 2.34E-4 N 0.92 64 10 0.135 64 0 0.000 0.00175960588641456333 0.800 --- 58,50,8,0.138 50,50,0,0.000 2.157 3.155 chrX 153043100 153043100 G A exonic PLXNB3 nonsynonymous SNV PLXNB3:NM_005393:exon31:c.G5218A:p.G1740S,PLXNB3:NM_001163257:exon32:c.G5287A:p.G1763S Score=378;Name=lod=46 0.1 0.855798 N 0.96 D 0.013 B 0.999697 N 0.8968 D 1.34 110 35 0.241 142 0 0.000 5.94478698900872048e-12 0.486 --- 121,94,27,0.223 117,117,0,0.000 8.497 60 chrX 153070265 153070265 C T exonic PDZD4 nonsynonymous SNV PDZD4:NM_032512:exon8:c.G853A:p.E285K Score=482;Name=lod=121 0.01 0.997991 C 0.95 T 0.926 D 0.998965 N 0.996206 D 4.71 205 63 0.235 236 0 0.000 1.5862465568014349e-19 0.397 --- 219,168,50,0.229 193,192,0,0.000 14.990 60 chrX 153129468 153129468 G A exonic L1CAM synonymous SNV L1CAM:NM_001143963:exon24:c.C3312T:p.R1104R,L1CAM:NM_000425:exon25:c.C3327T:p.R1109R,L1CAM:NM_024003:exon25:c.C3327T:p.R1109R 0.000189 rs150419364 160 30 0.158 181 0 0.000 6.84821656616514486e-10 0.300 --- 155,127,28,0.181 151,151,0,0.000 8.685 11.092 chrX 153130392 153130392 G A exonic L1CAM nonsynonymous SNV L1CAM:NM_001143963:exon21:c.C2915T:p.T972I,L1CAM:NM_000425:exon22:c.C2930T:p.T977I,L1CAM:NM_024003:exon22:c.C2930T:p.T977I 0.01 0.834815 N 0.98 D 0.039 B 0.629669 N 0.046051 N -2.33 184 39 0.175 222 0 0.000 5.88788423900661036e-13 0.692 --- 199,162,37,0.186 192,192,0,0.000 11.550 60 chrX 153296417 153296417 C T exonic MECP2 nonsynonymous SNV MECP2:NM_001110792:exon3:c.G898A:p.V300M,MECP2:NM_004992:exon4:c.G862A:p.V288M Score=429;Name=lod=74 0.08 0.998865 C 0.91 T 0.012 B 0.976824 N 0.532272 NA 3.68 205 57 0.218 279 0 0.000 3.3105386023351426e-20 0.632 --- 230,177,52,0.227 243,243,0,0.000 17.794 60 chrX 153533689 153533689 C A exonic TKTL1 synonymous SNV TKTL1:NM_001145933:exon2:c.C150A:p.I50I,TKTL1:NM_012253:exon2:c.C168A:p.I56I Score=551;Name=lod=232 139 37 0.210 218 0 0.000 1.09144980454595323e-14 0.514 --- 155,121,34,0.219 177,177,0,0.000 12.187 10.059 chrX 153697286 153697286 C T exonic PLXNA3 nonsynonymous SNV PLXNA3:NM_017514:exon25:c.C4408T:p.R1470C Score=557;Name=lod=244 0 0.998645 C 1.0 D 1.0 D 1.0 D 0.999228 D 5.08 151 35 0.188 166 1 0.006 9.3863410427505731e-10 0.629 0.000 165,134,31,0.188 150,149,1,0.007 7.832 8.951 chrX 153770627 153770627 G A exonic IKBKG nonsynonymous SNV IKBKG:NM_001099856:exon1:c.G149A:p.R50H 0 139 24 0.147 94 1 0.011 0.000122075652077736807 0.542 0.000 134,110,21,0.160 78,77,1,0.013 3.461 7.501 chrX 154294189 154294189 C T exonic MTCP1 nonsynonymous SNV MTCP1:NM_001018025:exon2:c.G97A:p.V33M Score=654;Name=lod=609 0.03 0.847605 N 0.97 D 0.0030 B 0.902588 N 0.355035 N -0.123 97 19 0.164 104 0 0.000 2.70208446352048441e-06 0.579 --- 99,82,17,0.172 87,87,0,0.000 4.924 10.187