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 1848278 1848278 C T exonic CALML6 nonsynonymous SNV CALML6:NM_138705:exon4:c.C341T:p.A114V Score=346;Name=lod=34 ID=COSM239137;OCCURENCE=1(prostate) 0.03 0.992274 C 0.97 D 0.453 P 0.902403 NA 0.351518 N 2.41 138 17 0.110 144 0 0.000 1.14190694334338448e-05 0.647 --- 146,129,16,0.110 131,130,1,0.008 3.618 10.716 chr1 19467893 19467893 G T exonic UBR4 nonsynonymous SNV UBR4:NM_020765:exon57:c.C8436A:p.D2812E Score=637;Name=lod=517 0 0.24042 N 0.855494 NA 0.956 D 1.0 D 0.034328 N -2.89 240 27 0.101 240 0 0.000 1.64499139644679513e-08 0.407 --- 214,194,20,0.093 202,202,0,0.000 5.857 10.301 chr1 222700393 222700393 C T splicing HHIPL2 NM_024746:exon8:c.1724-1G>A Score=494;Name=lod=136 70 18 0.205 74 0 0.000 1.30345616243296034e-05 0.389 --- 70,57,12,0.174 61,61,0,0.000 3.436 11.985 chr2 48873830 48873830 C G exonic GTF2A1L,STON1-GTF2A1L nonsynonymous SNV GTF2A1L:NM_001193487:exon5:c.C525G:p.H175Q,STON1-GTF2A1L:NM_001198594:exon5:c.C2598G:p.H866Q,GTF2A1L:NM_006872:exon6:c.C627G:p.H209Q,STON1-GTF2A1L:NM_001198593:exon8:c.C2739G:p.H913Q,STON1-GTF2A1L:NM_172311:exon8:c.C2739G:p.H913Q 0 0.214768 N 1.0 D 0.999 D 0.929138 N 0.101558 N -1.01 261 382 0.594 270 0 0.000 1.42058009033784765e-81 0.524 --- 547,217,329,0.603 228,227,0,0.000 60.000 60 chr2 48873952 48873952 C A exonic GTF2A1L,STON1-GTF2A1L nonsynonymous SNV GTF2A1L:NM_001193487:exon5:c.C647A:p.S216Y,STON1-GTF2A1L:NM_001198594:exon5:c.C2720A:p.S907Y,GTF2A1L:NM_006872:exon6:c.C749A:p.S250Y,STON1-GTF2A1L:NM_001198593:exon8:c.C2861A:p.S954Y,STON1-GTF2A1L:NM_172311:exon8:c.C2861A:p.S954Y 0.01 0.976124 C 1.0 D 0.134 B 0.86236 N 0.004966 N 3.58 283 397 0.584 275 1 0.004 2.00902661406790976e-79 0.504 1.000 559,236,323,0.578 221,220,1,0.005 60.000 60 chr2 48873955 48873955 C T exonic GTF2A1L,STON1-GTF2A1L nonsynonymous SNV GTF2A1L:NM_001193487:exon5:c.C650T:p.P217L,STON1-GTF2A1L:NM_001198594:exon5:c.C2723T:p.P908L,GTF2A1L:NM_006872:exon6:c.C752T:p.P251L,STON1-GTF2A1L:NM_001198593:exon8:c.C2864T:p.P955L,STON1-GTF2A1L:NM_172311:exon8:c.C2864T:p.P955L 0 0.918347 N 0.99 D 0.924 D 0.687311 N 0.070662 N 2.61 289 397 0.579 270 1 0.004 1.53028987940911095e-77 0.504 1.000 564,238,326,0.578 223,222,1,0.004 60.000 60 chr2 48874086 48874086 C T exonic GTF2A1L,STON1-GTF2A1L stopgain GTF2A1L:NM_001193487:exon5:c.C781T:p.Q261X,STON1-GTF2A1L:NM_001198594:exon5:c.C2854T:p.Q952X,GTF2A1L:NM_006872:exon6:c.C883T:p.Q295X,STON1-GTF2A1L:NM_001198593:exon8:c.C2995T:p.Q999X,STON1-GTF2A1L:NM_172311:exon8:c.C2995T:p.Q999X 0.01 0.964028 C 0.908933 NA 0.642896 NA 0.50773 U 1.0 A 1.6 280 344 0.551 246 2 0.008 4.21423210645521659e-64 0.390 0.500 511,223,288,0.564 192,191,1,0.005 52.359 60 chr2 60688411 60688411 C T exonic BCL11A nonsynonymous SNV BCL11A:NM_018014:exon4:c.G1636A:p.V546I,BCL11A:NM_022893:exon4:c.G1636A:p.V546I Score=935;Name=lod=8412 0.01 0.998465 C 0.96 D 0.778 P 0.9997 D 0.97247 D 4.96 232 26 0.101 221 0 0.000 8.3925017657221397e-08 0.615 --- 262,231,27,0.105 227,224,0,0.000 7.404 10.149 chr2 150427648 150427648 C T exonic MMADHC nonsynonymous SNV MMADHC:NM_015702:exon7:c.G647A:p.R216Q Score=576;Name=lod=292 0.49 0.998896 C 0.64 T 0.072 B 0.999929 N 0.946841 D 5.27 101 12 0.106 133 0 0.000 6.32948026920540579e-05 0.500 --- 81,73,8,0.099 100,99,0,0.000 2.861 7.099 chr2 197183649 197183649 A G exonic HECW2 synonymous SNV HECW2:NM_020760:exon9:c.T1965C:p.S655S 158 20 0.112 173 0 0.000 1.12160579975975293e-06 0.350 --- 148,131,17,0.115 142,142,0,0.000 5.005 8.853 chr2 206870219 206870219 C T exonic INO80D nonsynonymous SNV INO80D:NM_017759:exon11:c.G1957A:p.E653K Score=414;Name=lod=64 0 107 26 0.195 165 0 0.000 1.7452392782266209e-10 0.462 --- 110,89,21,0.191 129,129,0,0.000 7.570 13.834 chr2 236945337 236945337 C G exonic AGAP1 nonsynonymous SNV AGAP1:NM_014914:exon13:c.C1619G:p.S540W,AGAP1:NM_001037131:exon14:c.C1778G:p.S593W Score=579;Name=lod=300 0.01 0.997812 C 0.98 D 0.828 P 0.997581 N 0.999996 D 4.29 257 31 0.108 309 0 0.000 6.35019470446830051e-11 0.484 --- 226,200,26,0.115 239,238,0,0.000 8.462 10.985 chr3 17413675 17413675 G A exonic TBC1D5 nonsynonymous SNV TBC1D5:NM_001134380:exon13:c.C887T:p.A296V,TBC1D5:NM_014744:exon13:c.C887T:p.A296V,TBC1D5:NM_001134381:exon14:c.C887T:p.A296V Score=690;Name=lod=850 0.05 0.999711 C 0.89 T 0.841 P 1.0 D 0.999939 D 5.44 144 19 0.117 188 0 0.000 2.58363530917996787e-07 0.526 --- 131,115,14,0.109 134,133,0,0.000 4.472 14.162 chr3 179483514 179483514 T A exonic USP13 nonsynonymous SNV USP13:NM_003940:exon19:c.T2291A:p.I764N Score=546;Name=lod=220 0 0.997453 C 1.0 D 0.999 D 1.0 D 0.99915 D 5.05 147 25 0.145 157 0 0.000 4.01478148674728745e-08 0.600 --- 143,122,20,0.141 123,123,0,0.000 5.690 60 chr4 96222866 96222866 C T exonic UNC5C synonymous SNV UNC5C:NM_003728:exon3:c.G381A:p.S127S 180 25 0.122 198 0 0.000 2.97736593832028996e-08 0.400 --- 170,151,18,0.107 161,160,0,0.000 5.278 6.798 chr4 110687729 110687729 G A exonic CFI synonymous SNV CFI:NM_000204:exon2:c.C309T:p.N103N 98 12 0.109 117 0 0.000 0.000120975511354604409 0.667 --- 94,83,11,0.117 104,104,0,0.000 3.700 9.466 chr5 35965732 35965732 C A exonic UGT3A1 nonsynonymous SNV UGT3A1:NM_152404:exon4:c.G599T:p.R200L,UGT3A1:NM_001171873:exon5:c.G437T:p.R146L 0 0.876414 N 1.0 D 1.0 D 0.999995 D 0.927344 D 1.58 281 54 0.161 226 0 0.000 2.32555705119361257e-13 0.519 --- 282,232,50,0.177 194,194,0,0.000 12.015 10.929 chr5 112162807 112162807 G T exonic APC stopgain APC:NM_001127511:exon10:c.G1357T:p.G453X,APC:NM_000038:exon12:c.G1411T:p.G471X,APC:NM_001127510:exon13:c.G1411T:p.G471X Score=489;Name=lod=130 0 0.9997 C 0.903844 NA 0.735511 NA 1.0 D 1.0 A 5.42 104 14 0.119 92 0 0.000 0.000333889745246764175 0.500 --- 97,85,12,0.124 76,76,0,0.000 2.893 9.041 chr5 140229874 140229874 C T exonic PCDHA9 synonymous SNV PCDHA9:NM_014005:exon1:c.C1794T:p.D598D,PCDHA9:NM_031857:exon1:c.C1794T:p.D598D Score=309;Name=lod=24 Score=0.911161;Name=chr5:140214046 183 31 0.145 266 0 0.000 3.64982210608841372e-12 0.419 --- 194,167,27,0.139 227,227,0,0.000 9.539 6.127 chr6 107955270 107955270 C T exonic SOBP nonsynonymous SNV SOBP:NM_018013:exon6:c.C1222T:p.R408C Score=681;Name=lod=783 0.01 0.976774 C 0.98 D 0.999 D 1.0 D 0.997111 D 3.68 294 65 0.181 287 0 0.000 2.13082641093335682e-18 0.431 --- 284,228,56,0.197 227,226,0,0.000 15.373 60 chr6 112441527 112441527 T A exonic LAMA4 nonsynonymous SNV LAMA4:NM_001105206:exon33:c.A4624T:p.I1542F,LAMA4:NM_001105207:exon33:c.A4603T:p.I1535F,LAMA4:NM_002290:exon33:c.A4603T:p.I1535F Score=590;Name=lod=333 0.01 0.998412 C 0.99 D 0.536 P 0.999999 D 0.999556 D 4.43 96 14 0.127 115 0 0.000 2.83963078096072617e-05 0.643 --- 94,81,13,0.138 98,97,1,0.010 3.277 9.261 chr6 152476063 152476063 G T exonic SYNE1 synonymous SNV SYNE1:NM_033071:exon132:c.C23880A:p.I7960I,SYNE1:NM_182961:exon133:c.C24093A:p.I8031I Score=599;Name=lod=362 142 33 0.189 143 0 0.000 1.09247513549720018e-09 0.515 --- 136,112,24,0.176 112,111,1,0.009 5.533 13.075 chr6 161139748 161139748 G A exonic PLG nonsynonymous SNV PLG:NM_000301:exon9:c.G974A:p.R325H Score=478;Name=lod=117 0 0.999685 C 1.0 D 1.0 D 0.998163 U 0.997635 D 4.85 99 25 0.202 86 0 0.000 9.6975787653481164e-07 0.640 --- 99,81,18,0.182 68,68,0,0.000 4.275 8.404 chr7 79764490 79764490 T C exonic GNAI1 nonsynonymous SNV GNAI1:NM_002069:exon1:c.T14C:p.L5P Score=660;Name=lod=643 0.07 0.992839 C 0.91 T 0.0 B 0.999998 U 0.999913 D 3.44 72 11 0.133 81 0 0.000 0.000688647594673792715 0.636 --- 63,55,8,0.127 64,64,0,0.000 2.539 6.93 chr8 51449332 51449332 G A exonic SNTG1 nonsynonymous SNV SNTG1:NM_018967:exon11:c.G644A:p.R215H Score=414;Name=lod=64 0.07 0.998965 C 0.83 T 1.0 D 1.0 D 0.952202 D 4.48 176 37 0.174 194 0 0.000 7.84518804816347595e-12 0.432 --- 164,136,27,0.166 143,142,0,0.000 7.604 12.202 chr8 134262682 134262682 C T splicing NDRG1 NM_001135242:exon11:c.698+1G>A,NM_006096:exon11:c.698+1G>A,NM_001258433:exon10:c.455+1G>A,NM_001258432:exon9:c.500+1G>A Score=415;Name=lod=65 116 21 0.153 133 0 0.000 4.32970159831494633e-07 0.619 --- 109,89,19,0.176 108,107,0,0.000 5.795 11.135 chr8 145624851 145624851 C T exonic CPSF1 nonsynonymous SNV CPSF1:NM_013291:exon13:c.G1285A:p.G429S 0.76 0.903179 N 0.24 T 0.0 B 0.973814 N 0.032872 N 1.61 232 31 0.118 249 0 0.000 5.0184617151643486e-10 0.613 --- 224,201,23,0.103 205,205,0,0.000 6.690 9.973 chr9 26114397 26114397 T G exonic LOC100506422 nonsynonymous SNV LOC100506422:NM_001004352:exon5:c.T236G:p.V79G 0.02 77 9 0.105 73 0 0.000 0.00391856809447039588 0.778 --- 68,60,8,0.118 61,61,0,0.000 2.169 3.446 chr9 116155777 116155777 T C exonic ALAD synonymous SNV ALAD:NM_000031:exon2:c.A63G:p.T21T 0.000077 137 19 0.122 141 0 0.000 3.15509912285260812e-06 0.526 --- 135,118,16,0.119 120,119,0,0.000 4.557 4.902 chr9 133738244 133738244 A G exonic ABL1 nonsynonymous SNV ABL1:NM_005157:exon4:c.A644G:p.Y215C,ABL1:NM_007313:exon4:c.A701G:p.Y234C Score=591;Name=lod=335 0 0.999172 C 0.98 D 1.0 D 1.0 D 0.999999 D 5.68 238 29 0.109 256 1 0.004 3.10781266852222008e-08 0.552 0.000 227,206,20,0.088 216,213,1,0.005 4.798 11.982 chr10 64936109 64936109 A T exonic JMJD1C nonsynonymous SNV JMJD1C:NM_004241:exon21:c.T6638A:p.L2213H,JMJD1C:NM_032776:exon24:c.T7349A:p.L2450H Score=692;Name=lod=865 0 0.998298 C 1.0 D 0.898 D 0.973985 N 0.772052 D 4.98 117 16 0.120 116 0 0.000 3.07910339366855278e-05 0.500 --- 103,89,14,0.136 97,97,0,0.000 4.086 12.054 chr10 81373718 81373718 G A exonic SFTPA1 nonsynonymous SNV SFTPA1:NM_001164647:exon5:c.G596A:p.R199H,SFTPA1:NM_001093770:exon6:c.G641A:p.R214H,SFTPA1:NM_001164644:exon6:c.G596A:p.R199H,SFTPA1:NM_001164645:exon6:c.G494A:p.R165H,SFTPA1:NM_001164646:exon6:c.G449A:p.R150H,SFTPA1:NM_005411:exon6:c.G596A:p.R199H 0.56 0.85712 N 0.42 T 0.0020 B 0.555132 N 0.007021 N 0.852 337 56 0.142 382 0 0.000 4.5000746221136365e-18 0.589 --- 322,278,44,0.137 312,311,0,0.000 13.513 60 chr10 85997124 85997124 G A exonic LRIT1 synonymous SNV LRIT1:NM_015613:exon2:c.C441T:p.P147P 205 26 0.113 201 0 0.000 7.46718618915418454e-08 0.615 --- 200,179,21,0.105 169,169,0,0.000 5.579 7.587 chr10 118969267 118969267 C A exonic KCNK18 synonymous SNV KCNK18:NM_181840:exon3:c.C612A:p.I204I 146 25 0.146 173 0 0.000 9.95064735601252346e-09 0.480 --- 169,142,27,0.160 166,165,1,0.006 7.113 10.612 chr11 1099518 1099518 C T exonic MUC2 synonymous SNV MUC2:NM_002457:exon40:c.C7347T:p.C2449C Score=366;Name=lod=41 0.000078 0.0005 rs145418813 134 19 0.124 104 0 0.000 3.90449760606305449e-05 0.368 --- 123,108,15,0.122 85,85,0,0.000 3.315 5.431 chr11 122774678 122774678 G T exonic C11orf63 synonymous SNV C11orf63:NM_024806:exon3:c.G390T:p.P130P,C11orf63:NM_199124:exon3:c.G390T:p.P130P 168 28 0.143 203 0 0.000 7.89615594378025771e-10 0.571 --- 160,137,23,0.144 162,161,1,0.006 6.209 14.808 chr12 2968608 2968608 C T exonic FOXM1 synonymous SNV FOXM1:NM_001243088:exon8:c.G1443A:p.E481E,FOXM1:NM_001243089:exon8:c.G1440A:p.E480E,FOXM1:NM_202003:exon8:c.G1443A:p.E481E,FOXM1:NM_021953:exon9:c.G1488A:p.E496E,FOXM1:NM_202002:exon10:c.G1602A:p.E534E Score=251;Name=lod=14 182 83 0.313 175 0 0.000 1.2228969155573628e-21 0.783 --- 211,143,67,0.319 139,139,0,0.000 16.913 60 chr12 6933892 6933892 C T exonic GPR162 synonymous SNV GPR162:NM_019858:exon2:c.C828T:p.I276I Score=648;Name=lod=574 106 38 0.264 115 0 0.000 1.82605424428792577e-11 0.316 --- 129,95,34,0.264 97,97,0,0.000 9.050 60 chr12 14923777 14923777 G A exonic HIST4H4 nonsynonymous SNV HIST4H4:NM_175054:exon1:c.C242T:p.T81I Score=607;Name=lod=391 0.04 0.998747 C 1.0 D 0.428 P 0.999976 U 0.993362 D 3.24 167 41 0.197 235 0 0.000 3.40483306429560619e-15 0.585 --- 179,144,35,0.196 193,193,0,0.000 11.948 12.497 chr12 53553459 53553459 G T exonic CSAD nonsynonymous SNV CSAD:NM_001244706:exon7:c.C557A:p.P186H,CSAD:NM_001244705:exon16:c.C1256A:p.P419H,CSAD:NM_015989:exon16:c.C1337A:p.P446H Score=546;Name=lod=221 0.001384 0.0032 0.0082 rs140401098 0 0.990647 C 1.0 D 0.997 D 1.0 D 0.999976 D 2.95 105 19 0.153 106 0 0.000 4.16484135761276943e-06 0.421 --- 100,86,14,0.140 88,88,0,0.000 3.978 8.868 chr14 104643976 104643976 C T exonic KIF26A synonymous SNV KIF26A:NM_015656:exon12:c.C4851T:p.T1617T 247 36 0.127 289 0 0.000 2.9965900707670203e-12 0.528 --- 233,203,29,0.125 231,231,0,0.000 8.834 9.047 chr15 41099970 41099970 G A exonic ZFYVE19 synonymous SNV ZFYVE19:NM_001077268:exon1:c.G183A:p.R61R,ZFYVE19:NM_001258420:exon1:c.G183A:p.R61R 335 50 0.130 292 0 0.000 1.87232011026316764e-13 0.340 --- 313,272,41,0.131 233,232,0,0.000 10.362 10.348 chr15 90774646 90774646 C T exonic CIB1 nonsynonymous SNV CIB1:NM_001277764:exon4:c.G409A:p.V137M,CIB1:NM_006384:exon4:c.G289A:p.V97M Score=631;Name=lod=489 0 0.997315 C 0.99 D 0.654 P 0.999998 D 0.921377 D 3.92 164 21 0.114 209 0 0.000 6.73770367762452122e-08 0.381 --- 146,129,17,0.116 163,162,0,0.000 5.737 7.824 chr16 3304305 3304305 C T exonic MEFV nonsynonymous SNV MEFV:NM_000243:exon2:c.G763A:p.A255T 0.25 0.01828 N 0.81 T 0.0 B 0.059524 N 1.15E-4 N -10.7 235 42 0.152 204 1 0.005 4.72103369509657071e-10 0.429 1.000 238,198,40,0.168 180,179,1,0.006 8.899 7.095 chr16 7703869 7703869 G A exonic RBFOX1 synonymous SNV RBFOX1:NM_145891:exon9:c.G870A:p.A290A,RBFOX1:NM_145892:exon9:c.G870A:p.A290A,RBFOX1:NM_145893:exon9:c.G870A:p.A290A,RBFOX1:NM_001142334:exon10:c.G810A:p.A270A,RBFOX1:NM_001142333:exon11:c.G729A:p.A243A,RBFOX1:NM_018723:exon12:c.G810A:p.A270A Score=584;Name=lod=316 198 31 0.135 225 0 0.000 3.23304920810747033e-10 0.516 --- 187,159,28,0.150 181,181,0,0.000 8.561 8.465 chr17 7578212 7578212 G A exonic TP53 stopgain TP53:NM_001126115:exon2:c.C241T:p.R81X,TP53:NM_001126116:exon2:c.C241T:p.R81X,TP53:NM_001126117:exon2:c.C241T:p.R81X,TP53:NM_001276697:exon2:c.C160T:p.R54X,TP53:NM_001276698:exon2:c.C160T:p.R54X,TP53:NM_001276699:exon2:c.C160T:p.R54X,TP53:NM_001126118:exon5:c.C520T:p.R174X,TP53:NM_000546:exon6:c.C637T:p.R213X,TP53:NM_001126112:exon6:c.C637T:p.R213X,TP53:NM_001126113:exon6:c.C637T:p.R213X,TP53:NM_001126114:exon6:c.C637T:p.R213X,TP53:NM_001276695:exon6:c.C520T:p.R174X,TP53:NM_001276696:exon6:c.C520T:p.R174X,TP53:NM_001276760:exon6:c.C520T:p.R174X,TP53:NM_001276761:exon6:c.C520T:p.R174X Score=445;Name=lod=86 ID=COSM99618,COSM10654,COSM99617,COSM99616,COSM99615;OCCURENCE=9(ovary),31(breast),8(haematopoietic_and_lymphoid_tissue),13(stomach),1(kidney),4(soft_tissue),8(urinary_tract),2(pancreas),3(liver),23(oesophagus),1(autonomic_ganglia),14(skin),3(prostate),13(lung),1(thyroid),13(upper_aerodigestive_tract),60(large_intestine),10(central_nervous_system),3(biliary_tract),5(endometrium) 0.0082 1 0.963274 C 0.900935 NA 0.72952 NA 0.999999 D 1.0 A 2.72 113 28 0.199 145 0 0.000 5.5574650241626584e-10 0.536 --- 121,96,25,0.207 119,119,0,0.000 7.819 11.762 chr17 33749912 33749912 G A exonic SLFN12 stopgain SLFN12:NM_018042:exon2:c.C136T:p.R46X 0.56 0.006223 N 0.828759 NA 0.525398 NA 0.734881 NA 1.0 A -5.6 150 29 0.162 157 0 0.000 6.06251513570422758e-09 0.483 --- 159,131,27,0.171 129,128,0,0.000 7.398 60 chr17 42476460 42476460 G A exonic GPATCH8 synonymous SNV GPATCH8:NM_001002909:exon8:c.C2985T:p.S995S Score=689;Name=lod=842 70 14 0.167 101 0 0.000 8.32904124988082562e-06 0.500 --- 73,61,12,0.164 89,89,0,0.000 4.388 8.662 chr17 42476461 42476461 C A exonic GPATCH8 nonsynonymous SNV GPATCH8:NM_001002909:exon8:c.G2984T:p.S995I Score=689;Name=lod=842 0 0.998921 C 1.0 D 0.981 D 0.999999 D 0.074217 N 4.76 68 14 0.171 101 0 0.000 6.75661674080915611e-06 0.500 --- 72,60,12,0.167 88,88,0,0.000 4.399 11.244 chr17 74097350 74097350 A C splicing EXOC7 NM_001145299:exon5:c.417+2T>G,NM_001013839:exon5:c.417+2T>G,NM_001145298:exon5:c.417+2T>G,NM_001145297:exon5:c.417+2T>G,NM_015219:exon5:c.417+2T>G Score=607;Name=lod=392 0.01 173 21 0.108 168 0 0.000 1.25164626753286282e-06 1.000 --- 212,166,46,0.217 137,137,0,0.000 10.594 9.616 chr19 6454050 6454050 C T exonic SLC25A23 nonsynonymous SNV SLC25A23:NM_024103:exon7:c.G845A:p.R282H Score=487;Name=lod=127 0.0005 0.0082 rs201328062 0 0.998865 C 1.0 D 0.989 D 1.0 D 0.999985 D 5.24 140 29 0.172 137 0 0.000 1.08015207982148438e-08 0.345 --- 141,119,22,0.156 108,108,0,0.000 5.465 9.646 chr19 8654213 8654213 G A exonic ADAMTS10 nonsynonymous SNV ADAMTS10:NM_030957:exon18:c.C2071T:p.R691W 0 0.829796 N 0.96 D 0.993 D 0.999216 N 0.990753 D -1.03 313 56 0.152 287 0 0.000 2.06104408014260426e-15 0.571 --- 304,255,49,0.161 224,224,0,0.000 12.477 15.0 chr19 12981726 12981726 T G exonic MAST1 nonsynonymous SNV MAST1:NM_014975:exon23:c.T3092G:p.M1031R Score=609;Name=lod=399 0 0.995034 C 1.0 D 0.995 D 0.999999 D 0.789829 NA 4.34 220 42 0.160 204 0 0.000 9.5049398711608693e-12 0.619 --- 236,201,35,0.148 174,173,1,0.006 7.373 14.398 chr19 36370321 36370321 G A exonic APLP1 nonsynonymous SNV APLP1:NM_001024807:exon17:c.G1934A:p.R645H,APLP1:NM_005166:exon17:c.G1931A:p.R644H Score=576;Name=lod=292 0 0.999716 C 1.0 D 0.991 D 0.999919 D 0.961882 D 5.46 191 25 0.116 147 0 0.000 1.79976328728635758e-06 0.480 --- 168,149,19,0.113 123,123,0,0.000 4.471 6.153 chrX 91132061 91132061 A T exonic PCDH11X synonymous SNV PCDH11X:NM_001168360:exon2:c.A822T:p.T274T,PCDH11X:NM_001168361:exon2:c.A822T:p.T274T,PCDH11X:NM_001168362:exon2:c.A822T:p.T274T,PCDH11X:NM_001168363:exon2:c.A822T:p.T274T,PCDH11X:NM_014522:exon2:c.A822T:p.T274T,PCDH11X:NM_032968:exon2:c.A822T:p.T274T,PCDH11X:NM_032969:exon2:c.A822T:p.T274T,PCDH11X:NM_032967:exon5:c.A822T:p.T274T Score=611;Name=lod=405 Score=0.986611;Name=chrY:4829335 22 18 0.450 35 0 0.000 1.23325352757728082e-06 0.000 --- 39,21,18,0.462 32,32,0,0.000 5.564 60