Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 3 139172008 139172008 + Splice_Site SNP C C G TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr3:139172008C>G c.355G>C c.(355-357)Gag>Cag p.E119Q BLCA 3 139173591 139173591 + Missense_Mutation SNP C C T TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 g.chr3:139173591C>T c.334G>A c.(334-336)Gag>Aag p.E112K BLCA 3 139181129 139181129 + Missense_Mutation SNP A A G TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 g.chr3:139181129A>G c.77T>C c.(76-78)aTt>aCt p.I26T BLCA 3 139195229 139195229 + Splice_Site SNP C C A TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr3:139195229C>A c.73G>T c.(73-75)Gat>Tat p.D25Y BLCA 3 139195266 139195266 + Silent SNP C C T TCGA-DK-AA6W-01A-12D-A391-08 TCGA-DK-AA6W-10A-01D-A394-08 g.chr3:139195266C>T c.36G>A c.(34-36)gaG>gaA p.E12E BLCA 3 139195287 139195287 + Missense_Mutation SNP C C G TCGA-DK-AA6W-01A-12D-A391-08 TCGA-DK-AA6W-10A-01D-A394-08 g.chr3:139195287C>G c.15G>C c.(13-15)caG>caC p.Q5H BLCA 3 139195287 139195287 + Missense_Mutation SNP C C G TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr3:139195287C>G c.15G>C c.(13-15)caG>caC p.Q5H CHOL 3 139173596 139173596 + Missense_Mutation SNP C C A TCGA-W5-AA31-01A-11D-A417-09 TCGA-W5-AA31-10A-01D-A41A-09 g.chr3:139173596C>A c.329G>T c.(328-330)tGg>tTg p.W110L COAD 3 139180990 139180990 + Silent SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr3:139180990G>A c.216C>T c.(214-216)gaC>gaT p.D72D COAD 3 139181100 139181100 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:139181100G>A c.106C>T c.(106-108)Cgt>Tgt p.R36C COADREAD 3 139171980 139171980 + Missense_Mutation SNP C C T TCGA-DY-A1DF-01A-11D-A152-10 TCGA-DY-A1DF-10A-01D-A152-10 g.chr3:139171980C>T c.383G>A c.(382-384)cGt>cAt p.R128H COADREAD 3 139180990 139180990 + Silent SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr3:139180990G>A c.216C>T c.(214-216)gaC>gaT p.D72D COADREAD 3 139181100 139181100 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:139181100G>A c.106C>T c.(106-108)Cgt>Tgt p.R36C GBM 3 139195249 139195249 + Missense_Mutation SNP T T C TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 g.chr3:139195249T>C c.53A>G c.(52-54)gAg>gGg p.E18G GBMLGG 3 139195249 139195249 + Missense_Mutation SNP T T C TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 g.chr3:139195249T>C c.53A>G c.(52-54)gAg>gGg p.E18G HNSC 3 139173605 139173605 + Nonsense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 g.chr3:139173605C>T c.320G>A c.(319-321)tGg>tAg p.W107* KIPAN 3 139195286 139195286 + Missense_Mutation SNP T T A TCGA-P4-A5EB-01A-11D-A28G-10 TCGA-P4-A5EB-11A-11D-A28G-10 g.chr3:139195286T>A c.16A>T c.(16-18)Aat>Tat p.N6Y KIRP 3 139195286 139195286 + Missense_Mutation SNP T T A TCGA-P4-A5EB-01A-11D-A28G-10 TCGA-P4-A5EB-11A-11D-A28G-10 g.chr3:139195286T>A c.16A>T c.(16-18)Aat>Tat p.N6Y LUAD 3 139172010 139172010 + Splice_Site SNP T T A TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr3:139172010T>A c.e4-2 LUAD 3 139173624 139173624 + Missense_Mutation SNP C C T TCGA-17-Z049-01A-01W-0746-08 TCGA-17-Z049-11A-01W-0747-08 g.chr3:139173624C>T c.301G>A c.(301-303)Gag>Aag p.E101K LUAD 3 139173634 139173634 + Silent SNP C C A TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr3:139173634C>A c.291G>T c.(289-291)gtG>gtT p.V97V LUAD 3 139173649 139173649 + Missense_Mutation SNP A A T TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr3:139173649A>T c.276T>A c.(274-276)gaT>gaA p.D92E LUAD 3 139180964 139180964 + Missense_Mutation SNP C C T TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 g.chr3:139180964C>T c.242G>A c.(241-243)cGg>cAg p.R81Q LUAD 3 139180975 139180975 + Missense_Mutation SNP G G C TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 g.chr3:139180975G>C c.231C>G c.(229-231)agC>agG p.S77R LUAD 3 139181102 139181102 + Missense_Mutation SNP A A T TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr3:139181102A>T c.104T>A c.(103-105)gTa>gAa p.V35E LUAD 3 139181127 139181127 + Missense_Mutation SNP C C T TCGA-91-6836-01A-21D-1855-08 TCGA-91-6836-11A-01D-1855-08 g.chr3:139181127C>T c.79G>A c.(79-81)Gat>Aat p.D27N LUSC 3 139172003 139172003 + Silent SNP C C A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr3:139172003C>A c.360G>T c.(358-360)ctG>ctT p.L120L LUSC 3 139173596 139173596 + Nonsense_Mutation SNP C C T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 g.chr3:139173596C>T c.329G>A c.(328-330)tGg>tAg p.W110* LUSC 3 139195235 139195235 + Missense_Mutation SNP C C A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 g.chr3:139195235C>A c.67G>T c.(67-69)Gcc>Tcc p.A23S PAAD 3 139195235 139195235 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:139195235C>T c.67G>A c.(67-69)Gcc>Acc p.A23T READ 3 139171980 139171980 + Missense_Mutation SNP C C T TCGA-DY-A1DF-01A-11D-A152-10 TCGA-DY-A1DF-10A-01D-A152-10 g.chr3:139171980C>T c.383G>A c.(382-384)cGt>cAt p.R128H SARC 3 139173627 139173627 + Missense_Mutation SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 g.chr3:139173627C>T c.298G>A c.(298-300)Ggg>Agg p.G100R SARC 3 139181030 139181030 + Missense_Mutation SNP C C T TCGA-UE-A6QT-01A-12D-A32I-09 TCGA-UE-A6QT-10B-01D-A32I-09 g.chr3:139181030C>T c.176G>A c.(175-177)cGc>cAc p.R59H SKCM 3 139173612 139173612 + Missense_Mutation SNP G G T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr3:139173612G>T c.313C>A c.(313-315)Cgc>Agc p.R105S SKCM 3 139180953 139180953 + Splice_Site SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr3:139180953C>T c.e2+1 SKCM 3 139180954 139180954 + Splice_Site SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr3:139180954C>T c.252G>A c.(250-252)aaG>aaA p.K84K SKCM 3 139180971 139180971 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr3:139180971C>T c.235G>A c.(235-237)Gat>Aat p.D79N SKCM 3 139181011 139181011 + Silent SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:139181011G>A c.195C>T c.(193-195)ttC>ttT p.F65F SKCM 3 139181066 139181066 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr3:139181066C>T c.140G>A c.(139-141)gGt>gAt p.G47D SKCM 3 139181108 139181108 + Missense_Mutation SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr3:139181108A>G c.98T>C c.(97-99)aTt>aCt p.I33T ACC 12 130912861 130912861 + Missense_Mutation SNP C C T TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr12:130912861C>T c.2224G>A c.(2224-2226)Gag>Aag p.E742K ACC 12 130921471 130921471 + Silent SNP T T C TCGA-OR-A5JI-01A-11D-A29I-10 TCGA-OR-A5JI-10A-01D-A29L-10 g.chr12:130921471T>C c.1971A>G c.(1969-1971)ccA>ccG p.P657P ACC 12 130921471 130921471 + Silent SNP T T C TCGA-OR-A5KP-01A-11D-A30A-10 TCGA-OR-A5KP-10A-01D-A30A-10 g.chr12:130921471T>C c.1971A>G c.(1969-1971)ccA>ccG p.P657P ACC 12 130921471 130921471 + Silent SNP T T C TCGA-OR-A5KV-01A-11D-A29I-10 TCGA-OR-A5KV-10A-01D-A29L-10 g.chr12:130921471T>C c.1971A>G c.(1969-1971)ccA>ccG p.P657P ACC 12 130921471 130921471 + Silent SNP T T C TCGA-OR-A5L2-01A-11D-A30A-10 TCGA-OR-A5L2-10A-01D-A30A-10 g.chr12:130921471T>C c.1971A>G c.(1969-1971)ccA>ccG p.P657P ACC 12 130921471 130921471 + Silent SNP T T C TCGA-OR-A5LK-01A-11D-A29I-10 TCGA-OR-A5LK-10A-01D-A29L-10 g.chr12:130921471T>C c.1971A>G c.(1969-1971)ccA>ccG p.P657P ACC 12 130921471 130921471 + Silent SNP T T C TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr12:130921471T>C c.1971A>G c.(1969-1971)ccA>ccG p.P657P BLCA 12 130884256 130884256 + Missense_Mutation SNP G G C TCGA-K4-A6FZ-01A-11D-A31L-08 TCGA-K4-A6FZ-10A-01D-A31J-08 g.chr12:130884256G>C c.3100C>G c.(3100-3102)Caa>Gaa p.Q1034E BLCA 12 130884302 130884302 + Silent SNP A A C TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr12:130884302A>C c.3054T>G c.(3052-3054)ccT>ccG p.P1018P BLCA 12 130892335 130892335 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 g.chr12:130892335G>C c.2861C>G c.(2860-2862)aCg>aGg p.T954R BLCA 12 130897188 130897188 + Silent SNP G G A TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 g.chr12:130897188G>A c.2797C>T c.(2797-2799)Ctg>Ttg p.L933L BLCA 12 130897307 130897307 + Missense_Mutation SNP C C A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 g.chr12:130897307C>A c.2678G>T c.(2677-2679)gGa>gTa p.G893V BLCA 12 130897317 130897317 + Missense_Mutation SNP C C T TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 g.chr12:130897317C>T c.2668G>A c.(2668-2670)Gac>Aac p.D890N BLCA 12 130898785 130898785 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 g.chr12:130898785T>C c.2537A>G c.(2536-2538)gAa>gGa p.E846G BLCA 12 130912766 130912766 + Silent SNP C C T TCGA-ZF-AA5H-01A-11D-A391-08 TCGA-ZF-AA5H-10A-01D-A394-08 g.chr12:130912766C>T c.2319G>A c.(2317-2319)ggG>ggA p.G773G BLCA 12 130912840 130912840 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 g.chr12:130912840G>A c.2245C>T c.(2245-2247)Cgg>Tgg p.R749W BLCA 12 130919303 130919303 + Silent SNP C C T TCGA-2F-A9KR-01A-11D-A38G-08 TCGA-2F-A9KR-10A-01D-A38J-08 g.chr12:130919303C>T c.2178G>A c.(2176-2178)ctG>ctA p.L726L BLCA 12 130919336 130919336 + Silent SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr12:130919336G>A c.2145C>T c.(2143-2145)ttC>ttT p.F715F BLCA 12 130919366 130919366 + Silent SNP G G A TCGA-G2-AA3C-01A-21D-A391-08 TCGA-G2-AA3C-10A-01D-A394-08 g.chr12:130919366G>A c.2115C>T c.(2113-2115)gaC>gaT p.D705D BLCA 12 130923033 130923033 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 g.chr12:130923033G>A c.1482C>T c.(1480-1482)acC>acT p.T494T BLCA 12 130926567 130926567 + Nonsense_Mutation SNP C C A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 g.chr12:130926567C>A c.1279G>T c.(1279-1281)Gag>Tag p.E427* BLCA 12 130926714 130926714 + Missense_Mutation SNP C C T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 g.chr12:130926714C>T c.1132G>A c.(1132-1134)Gat>Aat p.D378N BLCA 12 130926783 130926783 + Missense_Mutation SNP C C T TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 g.chr12:130926783C>T c.1063G>A c.(1063-1065)Gag>Aag p.E355K BLCA 12 130927066 130927066 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 g.chr12:130927066C>T c.780G>A c.(778-780)gaG>gaA p.E260E BLCA 12 130927096 130927096 + Silent SNP G G A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr12:130927096G>A c.750C>T c.(748-750)aaC>aaT p.N250N BLCA 12 130934768 130934768 + Silent SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 g.chr12:130934768G>A c.507C>T c.(505-507)gtC>gtT p.V169V BLCA 12 130963540 130963540 + Missense_Mutation SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 g.chr12:130963540G>A c.19C>T c.(19-21)Cgg>Tgg p.R7W BRCA 12 130884256 130884256 + Missense_Mutation SNP G G C TCGA-AC-A5XS-01A-11D-A29N-09 TCGA-AC-A5XS-11A-13D-A29N-09 g.chr12:130884256G>C c.3100C>G c.(3100-3102)Caa>Gaa p.Q1034E BRCA 12 130884319 130884319 + Missense_Mutation SNP A A C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 g.chr12:130884319A>C c.3037T>G c.(3037-3039)Ttc>Gtc p.F1013V BRCA 12 130892283 130892283 + Silent SNP G G A TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 g.chr12:130892283G>A c.2913C>T c.(2911-2913)aaC>aaT p.N971N BRCA 12 130898669 130898669 + Splice_Site SNP C C A TCGA-AR-A256-01A-11D-A167-09 TCGA-AR-A256-10A-01D-A167-09 g.chr12:130898669C>A c.e14+1 BRCA 12 130907060 130907060 + Missense_Mutation SNP C C T TCGA-C8-A12N-01A-11D-A10Y-09 TCGA-C8-A12N-10A-01D-A110-09 g.chr12:130907060C>T c.2408G>A c.(2407-2409)cGg>cAg p.R803Q BRCA 12 130912757 130912757 + Missense_Mutation SNP C C A TCGA-C8-A133-01A-32D-A12B-09 TCGA-C8-A133-10A-01D-A12B-09 g.chr12:130912757C>A c.2328G>T c.(2326-2328)agG>agT p.R776S BRCA 12 130921495 130921495 + Silent SNP C C A TCGA-A7-A4SC-01A-12D-A25Q-09 TCGA-A7-A4SC-10A-01D-A25Q-09 g.chr12:130921495C>A c.1947G>T c.(1945-1947)tcG>tcT p.S649S BRCA 12 130926616 130926616 + Silent SNP G G T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 g.chr12:130926616G>T c.1230C>A c.(1228-1230)tcC>tcA p.S410S BRCA 12 130926628 130926628 + Silent SNP G G A TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 g.chr12:130926628G>A c.1218C>T c.(1216-1218)tcC>tcT p.S406S BRCA 12 130926638 130926638 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 g.chr12:130926638G>A c.1208C>T c.(1207-1209)aCg>aTg p.T403M BRCA 12 130927134 130927134 + Missense_Mutation SNP G G A TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 g.chr12:130927134G>A c.712C>T c.(712-714)Cgg>Tgg p.R238W BRCA 12 130927141 130927141 + Silent SNP G G A TCGA-A8-A079-01A-21W-A019-09 TCGA-A8-A079-10A-01W-A021-09 g.chr12:130927141G>A c.705C>T c.(703-705)aaC>aaT p.N235N BRCA 12 130927144 130927144 + Missense_Mutation SNP G G T TCGA-EW-A1OY-01A-11D-A142-09 TCGA-EW-A1OY-10A-01W-A187-09 g.chr12:130927144G>T c.702C>A c.(700-702)gaC>gaA p.D234E BRCA 12 130935809 130935809 + Silent SNP C C T TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 g.chr12:130935809C>T c.384G>A c.(382-384)ccG>ccA p.P128P BRCA 12 130935822 130935822 + Missense_Mutation SNP G G T TCGA-A8-A07I-01A-11W-A019-09 TCGA-A8-A07I-10A-01W-A021-09 g.chr12:130935822G>T c.371C>A c.(370-372)cCt>cAt p.P124H BRCA 12 130941040 130941040 + Splice_Site SNP C C G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 g.chr12:130941040C>G c.e4+1 COAD 12 130884249 130884249 + Missense_Mutation SNP G G A TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr12:130884249G>A c.3107C>T c.(3106-3108)aCg>aTg p.T1036M COAD 12 130890723 130890723 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:130890723A>C c.2991T>G c.(2989-2991)ttT>ttG p.F997L COAD 12 130890736 130890736 + Missense_Mutation SNP T T C TCGA-AA-A02K-01A-21W-A096-10 TCGA-AA-A02K-10A-01W-A096-10 g.chr12:130890736T>C c.2978A>G c.(2977-2979)gAt>gGt p.D993G COAD 12 130892274 130892274 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:130892274G>A c.2922C>T c.(2920-2922)gtC>gtT p.V974V COAD 12 130892307 130892307 + Silent SNP G G A TCGA-AA-3553-01A-01W-0831-10 TCGA-AA-3553-10A-01W-0831-10 g.chr12:130892307G>A c.2889C>T c.(2887-2889)taC>taT p.Y963Y COAD 12 130892329 130892329 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:130892329C>A c.2867G>T c.(2866-2868)aGa>aTa p.R956I COAD 12 130897171 130897171 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:130897171C>A c.2814G>T c.(2812-2814)gaG>gaT p.E938D COAD 12 130898681 130898681 + Missense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:130898681G>T c.2641C>A c.(2641-2643)Cag>Aag p.Q881K COAD 12 130912764 130912764 + Frame_Shift_Del DEL C C - TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr12:130912764delC c.2321delG c.(2320-2322)ggafs p.G774fs COAD 12 130919420 130919420 + Missense_Mutation SNP C C G TCGA-G4-6323-01A-11D-1719-10 TCGA-G4-6323-10A-01D-1720-10 g.chr12:130919420C>G c.2061G>C c.(2059-2061)gaG>gaC p.E687D COAD 12 130921762 130921762 + Missense_Mutation SNP C C A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr12:130921762C>A c.1680G>T c.(1678-1680)aaG>aaT p.K560N COAD 12 130922973 130922973 + Silent SNP C C T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr12:130922973C>T c.1542G>A c.(1540-1542)acG>acA p.T514T COAD 12 130922973 130922973 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr12:130922973C>T c.1542G>A c.(1540-1542)acG>acA p.T514T COAD 12 130923011 130923011 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr12:130923011C>T c.1504G>A c.(1504-1506)Gcc>Acc p.A502T COAD 12 130923033 130923033 + Silent SNP G G A TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr12:130923033G>A c.1482C>T c.(1480-1482)acC>acT p.T494T COAD 12 130926475 130926475 + Missense_Mutation SNP T T G TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr12:130926475T>G c.1371A>C c.(1369-1371)aaA>aaC p.K457N COAD 12 130926519 130926519 + Missense_Mutation SNP T T G TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr12:130926519T>G c.1327A>C c.(1327-1329)Aat>Cat p.N443H COAD 12 130926673 130926673 + Silent SNP C C T TCGA-DM-A1D0-01A-11D-A152-10 TCGA-DM-A1D0-10A-01D-A152-10 g.chr12:130926673C>T c.1173G>A c.(1171-1173)gtG>gtA p.V391V COAD 12 130926735 130926735 + Missense_Mutation SNP C C T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr12:130926735C>T c.1111G>A c.(1111-1113)Gtc>Atc p.V371I COAD 12 130926863 130926863 + Missense_Mutation SNP G G A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr12:130926863G>A c.983C>T c.(982-984)aCg>aTg p.T328M COAD 12 130926988 130926988 + Silent SNP G G A TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr12:130926988G>A c.858C>T c.(856-858)gaC>gaT p.D286D COAD 12 130926999 130926999 + Missense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr12:130926999C>T c.847G>A c.(847-849)Ggg>Agg p.G283R COAD 12 130927022 130927022 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr12:130927022G>A c.824C>T c.(823-825)gCg>gTg p.A275V COAD 12 130927134 130927134 + Missense_Mutation SNP G G A TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr12:130927134G>A c.712C>T c.(712-714)Cgg>Tgg p.R238W COAD 12 130927140 130927140 + Missense_Mutation SNP C C T TCGA-AA-A03J-01A-21W-A096-10 TCGA-AA-A03J-11A-11W-A096-10 g.chr12:130927140C>T c.706G>A c.(706-708)Gag>Aag p.E236K COAD 12 130929760 130929760 + Silent SNP C C T TCGA-AA-A01Z-01A-11W-A096-10 TCGA-AA-A01Z-11A-11W-A096-10 g.chr12:130929760C>T c.585G>A c.(583-585)acG>acA p.T195T COAD 12 130935763 130935763 + Missense_Mutation SNP C C T TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr12:130935763C>T c.430G>A c.(430-432)Gca>Aca p.A144T COAD 12 130935769 130935769 + Missense_Mutation SNP C C T TCGA-AA-A01Z-01A-11W-A096-10 TCGA-AA-A01Z-11A-11W-A096-10 g.chr12:130935769C>T c.424G>A c.(424-426)Ggt>Agt p.G142S COAD 12 130935837 130935837 + Missense_Mutation SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr12:130935837C>T c.356G>A c.(355-357)cGg>cAg p.R119Q COAD 12 130941124 130941124 + Missense_Mutation SNP G G A TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr12:130941124G>A c.224C>T c.(223-225)gCg>gTg p.A75V COAD 12 130941156 130941156 + Silent SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr12:130941156G>A c.192C>T c.(190-192)caC>caT p.H64H COAD 12 130963507 130963507 + Missense_Mutation SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr12:130963507C>T c.52G>A c.(52-54)Gcc>Acc p.A18T COADREAD 12 130884249 130884249 + Missense_Mutation SNP G G A TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr12:130884249G>A c.3107C>T c.(3106-3108)aCg>aTg p.T1036M COADREAD 12 130884319 130884319 + Missense_Mutation SNP A A G TCGA-EI-6510-01A-11D-1733-10 TCGA-EI-6510-10A-01D-1733-10 g.chr12:130884319A>G c.3037T>C c.(3037-3039)Ttc>Ctc p.F1013L COADREAD 12 130890723 130890723 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:130890723A>C c.2991T>G c.(2989-2991)ttT>ttG p.F997L COADREAD 12 130890736 130890736 + Missense_Mutation SNP T T C TCGA-AA-A02K-01A-21W-A096-10 TCGA-AA-A02K-10A-01W-A096-10 g.chr12:130890736T>C c.2978A>G c.(2977-2979)gAt>gGt p.D993G COADREAD 12 130890752 130890752 + Missense_Mutation SNP C C A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr12:130890752C>A c.2962G>T c.(2962-2964)Gtt>Ttt p.V988F COADREAD 12 130892274 130892274 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:130892274G>A c.2922C>T c.(2920-2922)gtC>gtT p.V974V COADREAD 12 130892274 130892274 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:130892274G>A c.2922C>T c.(2920-2922)gtC>gtT p.V974V COADREAD 12 130892307 130892307 + Silent SNP G G A TCGA-AA-3553-01A-01W-0831-10 TCGA-AA-3553-10A-01W-0831-10 g.chr12:130892307G>A c.2889C>T c.(2887-2889)taC>taT p.Y963Y COADREAD 12 130892329 130892329 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:130892329C>A c.2867G>T c.(2866-2868)aGa>aTa p.R956I COADREAD 12 130897171 130897171 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:130897171C>A c.2814G>T c.(2812-2814)gaG>gaT p.E938D COADREAD 12 130898681 130898681 + Missense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:130898681G>T c.2641C>A c.(2641-2643)Cag>Aag p.Q881K COADREAD 12 130898850 130898850 + Splice_Site SNP G G A TCGA-AF-2687-01A-02D-1733-10 TCGA-AF-2687-10A-01D-1733-10 g.chr12:130898850G>A c.2472C>T c.(2470-2472)gaC>gaT p.D824D COADREAD 12 130907040 130907040 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:130907040C>T c.2428G>A c.(2428-2430)Gct>Act p.A810T COADREAD 12 130912764 130912764 + Frame_Shift_Del DEL C C - TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr12:130912764delC c.2321delG c.(2320-2322)ggafs p.G774fs COADREAD 12 130919420 130919420 + Missense_Mutation SNP C C G TCGA-G4-6323-01A-11D-1719-10 TCGA-G4-6323-10A-01D-1720-10 g.chr12:130919420C>G c.2061G>C c.(2059-2061)gaG>gaC p.E687D COADREAD 12 130919422 130919422 + Nonsense_Mutation SNP C C A TCGA-AG-A036-01A-12W-A096-10 TCGA-AG-A036-11A-11W-A096-10 g.chr12:130919422C>A c.2059G>T c.(2059-2061)Gag>Tag p.E687* COADREAD 12 130921762 130921762 + Missense_Mutation SNP C C A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr12:130921762C>A c.1680G>T c.(1678-1680)aaG>aaT p.K560N COADREAD 12 130922973 130922973 + Silent SNP C C T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr12:130922973C>T c.1542G>A c.(1540-1542)acG>acA p.T514T COADREAD 12 130922973 130922973 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr12:130922973C>T c.1542G>A c.(1540-1542)acG>acA p.T514T COADREAD 12 130923011 130923011 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr12:130923011C>T c.1504G>A c.(1504-1506)Gcc>Acc p.A502T COADREAD 12 130923033 130923033 + Silent SNP G G A TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr12:130923033G>A c.1482C>T c.(1480-1482)acC>acT p.T494T COADREAD 12 130926475 130926475 + Missense_Mutation SNP T T G TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr12:130926475T>G c.1371A>C c.(1369-1371)aaA>aaC p.K457N COADREAD 12 130926519 130926519 + Missense_Mutation SNP T T G TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr12:130926519T>G c.1327A>C c.(1327-1329)Aat>Cat p.N443H COADREAD 12 130926673 130926673 + Silent SNP C C T TCGA-DM-A1D0-01A-11D-A152-10 TCGA-DM-A1D0-10A-01D-A152-10 g.chr12:130926673C>T c.1173G>A c.(1171-1173)gtG>gtA p.V391V COADREAD 12 130926735 130926735 + Missense_Mutation SNP C C T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr12:130926735C>T c.1111G>A c.(1111-1113)Gtc>Atc p.V371I COADREAD 12 130926863 130926863 + Missense_Mutation SNP G G A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr12:130926863G>A c.983C>T c.(982-984)aCg>aTg p.T328M COADREAD 12 130926988 130926988 + Silent SNP G G A TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr12:130926988G>A c.858C>T c.(856-858)gaC>gaT p.D286D COADREAD 12 130926999 130926999 + Missense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr12:130926999C>T c.847G>A c.(847-849)Ggg>Agg p.G283R COADREAD 12 130927022 130927022 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr12:130927022G>A c.824C>T c.(823-825)gCg>gTg p.A275V COADREAD 12 130927134 130927134 + Missense_Mutation SNP G G A TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr12:130927134G>A c.712C>T c.(712-714)Cgg>Tgg p.R238W COADREAD 12 130927134 130927134 + Missense_Mutation SNP G G A TCGA-F5-6811-01A-11D-1826-10 TCGA-F5-6811-10A-01D-1826-10 g.chr12:130927134G>A c.712C>T c.(712-714)Cgg>Tgg p.R238W COADREAD 12 130927140 130927140 + Missense_Mutation SNP C C T TCGA-AA-A03J-01A-21W-A096-10 TCGA-AA-A03J-11A-11W-A096-10 g.chr12:130927140C>T c.706G>A c.(706-708)Gag>Aag p.E236K COADREAD 12 130929760 130929760 + Silent SNP C C T TCGA-AA-A01Z-01A-11W-A096-10 TCGA-AA-A01Z-11A-11W-A096-10 g.chr12:130929760C>T c.585G>A c.(583-585)acG>acA p.T195T COADREAD 12 130935763 130935763 + Missense_Mutation SNP C C T TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr12:130935763C>T c.430G>A c.(430-432)Gca>Aca p.A144T COADREAD 12 130935769 130935769 + Missense_Mutation SNP C C T TCGA-AA-A01Z-01A-11W-A096-10 TCGA-AA-A01Z-11A-11W-A096-10 g.chr12:130935769C>T c.424G>A c.(424-426)Ggt>Agt p.G142S COADREAD 12 130935837 130935837 + Missense_Mutation SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr12:130935837C>T c.356G>A c.(355-357)cGg>cAg p.R119Q COADREAD 12 130941072 130941072 + Missense_Mutation SNP G G T TCGA-AG-3586-01A-02W-0831-10 TCGA-AG-3586-10A-01W-0831-10 g.chr12:130941072G>T c.276C>A c.(274-276)ttC>ttA p.F92L COADREAD 12 130941124 130941124 + Missense_Mutation SNP G G A TCGA-AA-3861-01A-01W-0995-10 TCGA-AA-3861-10A-01W-0995-10 g.chr12:130941124G>A c.224C>T c.(223-225)gCg>gTg p.A75V COADREAD 12 130941156 130941156 + Silent SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr12:130941156G>A c.192C>T c.(190-192)caC>caT p.H64H COADREAD 12 130963507 130963507 + Missense_Mutation SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr12:130963507C>T c.52G>A c.(52-54)Gcc>Acc p.A18T DLBC 12 130892335 130892335 + Missense_Mutation SNP G G A TCGA-FF-8061-01A-11D-2210-10 TCGA-FF-8061-10A-01D-2210-10 g.chr12:130892335G>A c.2861C>T c.(2860-2862)aCg>aTg p.T954M DLBC 12 130926675 130926675 + Missense_Mutation SNP C C T TCGA-FF-8042-01A-11D-2210-10 TCGA-FF-8042-10A-01D-2210-10 g.chr12:130926675C>T c.1171G>A c.(1171-1173)Gtg>Atg p.V391M ESCA 12 130884319 130884319 + Missense_Mutation SNP A A C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 g.chr12:130884319A>C c.3037T>G c.(3037-3039)Ttc>Gtc p.F1013V ESCA 12 130890731 130890731 + Missense_Mutation SNP C C G TCGA-L5-A43I-01A-11D-A247-09 TCGA-L5-A43I-11A-11D-A247-09 g.chr12:130890731C>G c.2983G>C c.(2983-2985)Gat>Cat p.D995H ESCA 12 130892306 130892306 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr12:130892306C>T c.2890G>A c.(2890-2892)Gac>Aac p.D964N ESCA 12 130898732 130898732 + Missense_Mutation SNP T T C TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr12:130898732T>C c.2590A>G c.(2590-2592)Atg>Gtg p.M864V ESCA 12 130907016 130907016 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 g.chr12:130907016C>T c.2452G>A c.(2452-2454)Gtg>Atg p.V818M ESCA 12 130921539 130921539 + Missense_Mutation SNP G G T TCGA-LN-A49U-01A-31D-A27G-09 TCGA-LN-A49U-10A-01D-A27G-09 g.chr12:130921539G>T c.1903C>A c.(1903-1905)Cat>Aat p.H635N ESCA 12 130921701 130921701 + Missense_Mutation SNP C C T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 g.chr12:130921701C>T c.1741G>A c.(1741-1743)Gtt>Att p.V581I ESCA 12 130921822 130921822 + Missense_Mutation SNP G G C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 g.chr12:130921822G>C c.1620C>G c.(1618-1620)atC>atG p.I540M ESCA 12 130926544 130926544 + Silent SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 g.chr12:130926544G>A c.1302C>T c.(1300-1302)gcC>gcT p.A434A ESCA 12 130926638 130926638 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr12:130926638G>A c.1208C>T c.(1207-1209)aCg>aTg p.T403M ESCA 12 130926745 130926745 + Silent SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 g.chr12:130926745G>T c.1101C>A c.(1099-1101)tcC>tcA p.S367S ESCA 12 130927081 130927081 + Silent SNP G G A TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 g.chr12:130927081G>A c.765C>T c.(763-765)tcC>tcT p.S255S ESCA 12 130929802 130929802 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 g.chr12:130929802G>T c.543C>A c.(541-543)ttC>ttA p.F181L GBM 12 130898833 130898833 + Missense_Mutation SNP C C T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 g.chr12:130898833C>T c.2489G>A c.(2488-2490)cGc>cAc p.R830H GBM 12 130898833 130898833 + Missense_Mutation SNP C C T TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 g.chr12:130898833C>T c.2489G>A c.(2488-2490)cGc>cAc p.R830H GBM 12 130907060 130907060 + Missense_Mutation SNP C C T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 g.chr12:130907060C>T c.2408G>A c.(2407-2409)cGg>cAg p.R803Q GBM 12 130921520 130921520 + Missense_Mutation SNP G G A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 g.chr12:130921520G>A c.1922C>T c.(1921-1923)cCg>cTg p.P641L GBM 12 130926697 130926697 + Silent SNP C C T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 g.chr12:130926697C>T c.1149G>A c.(1147-1149)acG>acA p.T383T GBM 12 130927081 130927081 + Silent SNP G G A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 g.chr12:130927081G>A c.765C>T c.(763-765)tcC>tcT p.S255S GBM 12 130927111 130927111 + Silent SNP G G A TCGA-06-0155-01B-01D-1492-08 TCGA-06-0155-10A-01D-1492-08 g.chr12:130927111G>A c.735C>T c.(733-735)aaC>aaT p.N245N GBM 12 130927141 130927141 + Silent SNP G G A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 g.chr12:130927141G>A c.705C>T c.(703-705)aaC>aaT p.N235N GBM 12 130934752 130934752 + Missense_Mutation SNP G G A TCGA-76-4932-01A-01D-1486-08 TCGA-76-4932-10A-01D-1486-08 g.chr12:130934752G>A c.523C>T c.(523-525)Cgc>Tgc p.R175C GBM 12 130935764 130935764 + Silent SNP G G A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 g.chr12:130935764G>A c.429C>T c.(427-429)agC>agT p.S143S GBMLGG 12 130898833 130898833 + Missense_Mutation SNP C C T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 g.chr12:130898833C>T c.2489G>A c.(2488-2490)cGc>cAc p.R830H GBMLGG 12 130898833 130898833 + Missense_Mutation SNP C C T TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 g.chr12:130898833C>T c.2489G>A c.(2488-2490)cGc>cAc p.R830H GBMLGG 12 130898840 130898840 + Nonsense_Mutation SNP G G A TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 g.chr12:130898840G>A c.2482C>T c.(2482-2484)Cga>Tga p.R828* GBMLGG 12 130907060 130907060 + Missense_Mutation SNP C C T TCGA-76-6286-01A-11D-1845-08 TCGA-76-6286-10A-01D-1845-08 g.chr12:130907060C>T c.2408G>A c.(2407-2409)cGg>cAg p.R803Q GBMLGG 12 130912849 130912849 + Nonsense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:130912849C>A c.2236G>T c.(2236-2238)Gag>Tag p.E746* GBMLGG 12 130919312 130919312 + Silent SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 g.chr12:130919312G>A c.2169C>T c.(2167-2169)gaC>gaT p.D723D GBMLGG 12 130919378 130919378 + Silent SNP G G A TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 g.chr12:130919378G>A c.2103C>T c.(2101-2103)taC>taT p.Y701Y GBMLGG 12 130919389 130919389 + Missense_Mutation SNP C C T TCGA-DB-A64S-01A-11D-A29Q-08 TCGA-DB-A64S-10A-01D-A29Q-08 g.chr12:130919389C>T c.2092G>A c.(2092-2094)Gcg>Acg p.A698T GBMLGG 12 130921520 130921520 + Missense_Mutation SNP G G A TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 g.chr12:130921520G>A c.1922C>T c.(1921-1923)cCg>cTg p.P641L GBMLGG 12 130921520 130921520 + Missense_Mutation SNP G G A TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr12:130921520G>A c.1922C>T c.(1921-1923)cCg>cTg p.P641L GBMLGG 12 130926697 130926697 + Silent SNP C C T TCGA-06-0879-01A-01W-0424-08 TCGA-06-0879-10A-01W-0424-08 g.chr12:130926697C>T c.1149G>A c.(1147-1149)acG>acA p.T383T GBMLGG 12 130926933 130926933 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:130926933G>T c.913C>A c.(913-915)Ctc>Atc p.L305I GBMLGG 12 130927081 130927081 + Silent SNP G G A TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 g.chr12:130927081G>A c.765C>T c.(763-765)tcC>tcT p.S255S GBMLGG 12 130927095 130927095 + Missense_Mutation SNP A A T TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 g.chr12:130927095A>T c.751T>A c.(751-753)Ttc>Atc p.F251I GBMLGG 12 130927111 130927111 + Silent SNP G G A TCGA-06-0155-01B-01D-1492-08 TCGA-06-0155-10A-01D-1492-08 g.chr12:130927111G>A c.735C>T c.(733-735)aaC>aaT p.N245N GBMLGG 12 130927121 130927121 + Missense_Mutation SNP G G A TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr12:130927121G>A c.725C>T c.(724-726)aCg>aTg p.T242M GBMLGG 12 130927141 130927141 + Silent SNP G G A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 g.chr12:130927141G>A c.705C>T c.(703-705)aaC>aaT p.N235N GBMLGG 12 130934752 130934752 + Missense_Mutation SNP G G A TCGA-76-4932-01A-01D-1486-08 TCGA-76-4932-10A-01D-1486-08 g.chr12:130934752G>A c.523C>T c.(523-525)Cgc>Tgc p.R175C GBMLGG 12 130935764 130935764 + Silent SNP G G A TCGA-16-1045-01B-01W-0611-08 TCGA-16-1045-10B-01W-0611-08 g.chr12:130935764G>A c.429C>T c.(427-429)agC>agT p.S143S GBMLGG 12 130963555 130963555 + Nonsense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 g.chr12:130963555G>A c.4C>T c.(4-6)Cga>Tga p.R2* HNSC 12 130883689 130883689 + Missense_Mutation SNP G G T TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 g.chr12:130883689G>T c.3150C>A c.(3148-3150)ttC>ttA p.F1050L HNSC 12 130892282 130892282 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 g.chr12:130892282C>T c.2914G>A c.(2914-2916)Gtc>Atc p.V972I HNSC 12 130892304 130892304 + Missense_Mutation SNP G G T TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 g.chr12:130892304G>T c.2892C>A c.(2890-2892)gaC>gaA p.D964E HNSC 12 130897293 130897293 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 g.chr12:130897293C>T c.2692G>A c.(2692-2694)Gaa>Aaa p.E898K HNSC 12 130898786 130898786 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 g.chr12:130898786C>T c.2536G>A c.(2536-2538)Gaa>Aaa p.E846K HNSC 12 130912804 130912804 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 g.chr12:130912804C>T c.2281G>A c.(2281-2283)Gag>Aag p.E761K HNSC 12 130912810 130912810 + Nonsense_Mutation SNP C C A TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr12:130912810C>A c.2275G>T c.(2275-2277)Gag>Tag p.E759* HNSC 12 130912862 130912862 + Silent SNP G G A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 g.chr12:130912862G>A c.2223C>T c.(2221-2223)gaC>gaT p.D741D HNSC 12 130921646 130921646 + Nonsense_Mutation SNP G G C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 g.chr12:130921646G>C c.1796C>G c.(1795-1797)tCa>tGa p.S599* HNSC 12 130921701 130921701 + Missense_Mutation SNP C C T TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 g.chr12:130921701C>T c.1741G>A c.(1741-1743)Gtt>Att p.V581I HNSC 12 130921797 130921797 + Missense_Mutation SNP C C T TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 g.chr12:130921797C>T c.1645G>A c.(1645-1647)Gtg>Atg p.V549M HNSC 12 130926460 130926460 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chr12:130926460C>A c.1386G>T c.(1384-1386)ccG>ccT p.P462P HNSC 12 130926553 130926553 + Silent SNP G G A TCGA-CN-6011-01A-11D-1683-08 TCGA-CN-6011-10A-01D-1683-08 g.chr12:130926553G>A c.1293C>T c.(1291-1293)atC>atT p.I431I HNSC 12 130926628 130926628 + Silent SNP G G A TCGA-CV-A6JD-01A-11D-A31L-08 TCGA-CV-A6JD-10A-01D-A31J-08 g.chr12:130926628G>A c.1218C>T c.(1216-1218)tcC>tcT p.S406S HNSC 12 130926854 130926854 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 g.chr12:130926854C>A c.992G>T c.(991-993)aGc>aTc p.S331I HNSC 12 130927037 130927037 + Missense_Mutation SNP G G A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 g.chr12:130927037G>A c.809C>T c.(808-810)cCa>cTa p.P270L HNSC 12 130927081 130927081 + Silent SNP G G A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 g.chr12:130927081G>A c.765C>T c.(763-765)tcC>tcT p.S255S HNSC 12 130927171 130927171 + Silent SNP G G A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 g.chr12:130927171G>A c.675C>T c.(673-675)ccC>ccT p.P225P HNSC 12 130934748 130934748 + Missense_Mutation SNP T T C TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 g.chr12:130934748T>C c.527A>G c.(526-528)tAt>tGt p.Y176C HNSC 12 130935880 130935880 + Missense_Mutation SNP C C T TCGA-T2-A6X2-01A-12D-A34J-08 TCGA-T2-A6X2-10B-01D-A34M-08 g.chr12:130935880C>T c.313G>A c.(313-315)Gag>Aag p.E105K HNSC 12 130963477 130963477 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 g.chr12:130963477C>T c.82G>A c.(82-84)Gaa>Aaa p.E28K HNSC 12 130963555 130963555 + Silent SNP G G T TCGA-UF-A71D-01A-12D-A34J-08 TCGA-UF-A71D-10B-01D-A34M-08 g.chr12:130963555G>T c.4C>A c.(4-6)Cga>Aga p.R2R KIPAN 12 130897239 130897239 + Missense_Mutation SNP C C T TCGA-B0-4838-01A-01D-1373-10 TCGA-B0-4838-11A-01D-1373-10 g.chr12:130897239C>T c.2746G>A c.(2746-2748)Gca>Aca p.A916T KIPAN 12 130919339 130919339 + Silent SNP G G A TCGA-BQ-7061-01A-11D-1961-08 TCGA-BQ-7061-11A-01D-1961-08 g.chr12:130919339G>A c.2142C>T c.(2140-2142)gaC>gaT p.D714D KIPAN 12 130921476 130921476 + Missense_Mutation SNP G G T TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr12:130921476G>T c.1966C>A c.(1966-1968)Ctg>Atg p.L656M KIPAN 12 130921587 130921587 + Missense_Mutation SNP C C T TCGA-2Z-A9J1-01A-11D-A382-10 TCGA-2Z-A9J1-10A-01D-A385-10 g.chr12:130921587C>T c.1855G>A c.(1855-1857)Gcc>Acc p.A619T KIPAN 12 130926444 130926444 + Missense_Mutation SNP C C T TCGA-CJ-5680-01A-11D-1534-10 TCGA-CJ-5680-11A-01D-1535-10 g.chr12:130926444C>T c.1402G>A c.(1402-1404)Gag>Aag p.E468K KIPAN 12 130926698 130926698 + Missense_Mutation SNP G G A TCGA-B0-4816-01A-01D-1501-10 TCGA-B0-4816-11A-02D-1501-10 g.chr12:130926698G>A c.1148C>T c.(1147-1149)aCg>aTg p.T383M KIPAN 12 130935856 130935856 + Missense_Mutation SNP C C T TCGA-B0-5698-01A-11D-1669-08 TCGA-B0-5698-10A-01D-1669-08 g.chr12:130935856C>T c.337G>A c.(337-339)Gcg>Acg p.A113T KIRC 12 130897239 130897239 + Missense_Mutation SNP C C T TCGA-B0-4838-01A-01D-1373-10 TCGA-B0-4838-11A-01D-1373-10 g.chr12:130897239C>T c.2746G>A c.(2746-2748)Gca>Aca p.A916T KIRC 12 130926444 130926444 + Missense_Mutation SNP C C T TCGA-CJ-5680-01A-11D-1534-10 TCGA-CJ-5680-11A-01D-1535-10 g.chr12:130926444C>T c.1402G>A c.(1402-1404)Gag>Aag p.E468K KIRC 12 130926698 130926698 + Missense_Mutation SNP G G A TCGA-B0-4816-01A-01D-1501-10 TCGA-B0-4816-11A-02D-1501-10 g.chr12:130926698G>A c.1148C>T c.(1147-1149)aCg>aTg p.T383M KIRC 12 130935856 130935856 + Missense_Mutation SNP C C T TCGA-B0-5698-01A-11D-1669-08 TCGA-B0-5698-10A-01D-1669-08 g.chr12:130935856C>T c.337G>A c.(337-339)Gcg>Acg p.A113T KIRP 12 130919339 130919339 + Silent SNP G G A TCGA-BQ-7061-01A-11D-1961-08 TCGA-BQ-7061-11A-01D-1961-08 g.chr12:130919339G>A c.2142C>T c.(2140-2142)gaC>gaT p.D714D KIRP 12 130921476 130921476 + Missense_Mutation SNP G G T TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr12:130921476G>T c.1966C>A c.(1966-1968)Ctg>Atg p.L656M KIRP 12 130921587 130921587 + Missense_Mutation SNP C C T TCGA-2Z-A9J1-01A-11D-A382-10 TCGA-2Z-A9J1-10A-01D-A385-10 g.chr12:130921587C>T c.1855G>A c.(1855-1857)Gcc>Acc p.A619T LGG 12 130898840 130898840 + Nonsense_Mutation SNP G G A TCGA-HT-7603-01A-21D-2086-08 TCGA-HT-7603-10A-01D-2086-08 g.chr12:130898840G>A c.2482C>T c.(2482-2484)Cga>Tga p.R828* LGG 12 130912849 130912849 + Nonsense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:130912849C>A c.2236G>T c.(2236-2238)Gag>Tag p.E746* LGG 12 130919312 130919312 + Silent SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 g.chr12:130919312G>A c.2169C>T c.(2167-2169)gaC>gaT p.D723D LGG 12 130919378 130919378 + Silent SNP G G A TCGA-TM-A84I-01A-11D-A36O-08 TCGA-TM-A84I-10A-01D-A367-08 g.chr12:130919378G>A c.2103C>T c.(2101-2103)taC>taT p.Y701Y LGG 12 130919389 130919389 + Missense_Mutation SNP C C T TCGA-DB-A64S-01A-11D-A29Q-08 TCGA-DB-A64S-10A-01D-A29Q-08 g.chr12:130919389C>T c.2092G>A c.(2092-2094)Gcg>Acg p.A698T LGG 12 130921520 130921520 + Missense_Mutation SNP G G A TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr12:130921520G>A c.1922C>T c.(1921-1923)cCg>cTg p.P641L LGG 12 130926933 130926933 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:130926933G>T c.913C>A c.(913-915)Ctc>Atc p.L305I LGG 12 130927095 130927095 + Missense_Mutation SNP A A T TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 g.chr12:130927095A>T c.751T>A c.(751-753)Ttc>Atc p.F251I LGG 12 130927121 130927121 + Missense_Mutation SNP G G A TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr12:130927121G>A c.725C>T c.(724-726)aCg>aTg p.T242M LGG 12 130963555 130963555 + Nonsense_Mutation SNP G G A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 g.chr12:130963555G>A c.4C>T c.(4-6)Cga>Tga p.R2* LIHC 12 130926753 130926753 + Missense_Mutation SNP G G T TCGA-2Y-A9GT-01A-11D-A382-10 TCGA-2Y-A9GT-10A-01D-A385-10 g.chr12:130926753G>T c.1093C>A c.(1093-1095)Cgc>Agc p.R365S LIHC 12 130927134 130927134 + Silent SNP G G T TCGA-CC-5258-01A-01D-A12Z-10 TCGA-CC-5258-10A-01D-A12Z-10 g.chr12:130927134G>T c.712C>A c.(712-714)Cgg>Agg p.R238R LIHC 12 130929724 130929724 + Missense_Mutation SNP A A T TCGA-RC-A6M6-01A-11D-A32G-10 TCGA-RC-A6M6-10A-01D-A32G-10 g.chr12:130929724A>T c.621T>A c.(619-621)gaT>gaA p.D207E LUAD 12 130892270 130892270 + Splice_Site SNP C C A TCGA-J2-A4AD-01A-11D-A24D-08 TCGA-J2-A4AD-10A-01D-A24F-08 g.chr12:130892270C>A c.e16+1 LUAD 12 130892271 130892271 + Splice_Site SNP C C A TCGA-J2-A4AD-01A-11D-A24D-08 TCGA-J2-A4AD-10A-01D-A24F-08 g.chr12:130892271C>A c.2925G>T c.(2923-2925)gaG>gaT p.E975D LUAD 12 130897280 130897280 + Missense_Mutation SNP C C T TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr12:130897280C>T c.2705G>A c.(2704-2706)cGg>cAg p.R902Q LUAD 12 130898703 130898703 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr12:130898703C>A c.2619G>T c.(2617-2619)gaG>gaT p.E873D LUAD 12 130898708 130898708 + Nonsense_Mutation SNP C C A TCGA-55-8616-01A-11D-2393-08 TCGA-55-8616-10A-01D-2393-08 g.chr12:130898708C>A c.2614G>T c.(2614-2616)Gag>Tag p.E872* LUAD 12 130898775 130898775 + Silent SNP C C T TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr12:130898775C>T c.2547G>A c.(2545-2547)ccG>ccA p.P849P LUAD 12 130898825 130898825 + Missense_Mutation SNP G G A TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr12:130898825G>A c.2497C>T c.(2497-2499)Cca>Tca p.P833S LUAD 12 130898840 130898840 + Nonsense_Mutation SNP G G A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 g.chr12:130898840G>A c.2482C>T c.(2482-2484)Cga>Tga p.R828* LUAD 12 130906998 130906998 + Splice_Site SNP C C T TCGA-71-8520-01A-11D-2393-08 TCGA-71-8520-10A-01D-2393-08 g.chr12:130906998C>T c.2470G>A c.(2470-2472)Gac>Aac p.D824N LUAD 12 130907029 130907029 + Missense_Mutation SNP C C G TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr12:130907029C>G c.2439G>C c.(2437-2439)caG>caC p.Q813H LUAD 12 130907094 130907094 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr12:130907094G>C c.2374C>G c.(2374-2376)Cca>Gca p.P792A LUAD 12 130912746 130912746 + Missense_Mutation SNP C C A TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chr12:130912746C>A c.2339G>T c.(2338-2340)gGc>gTc p.G780V LUAD 12 130912804 130912804 + Missense_Mutation SNP C C T TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 g.chr12:130912804C>T c.2281G>A c.(2281-2283)Gag>Aag p.E761K LUAD 12 130912820 130912820 + Silent SNP G G A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr12:130912820G>A c.2265C>T c.(2263-2265)gaC>gaT p.D755D LUAD 12 130912844 130912844 + Missense_Mutation SNP G G T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 g.chr12:130912844G>T c.2241C>A c.(2239-2241)agC>agA p.S747R LUAD 12 130912881 130912881 + Splice_Site DEL G G - TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 g.chr12:130912881delG c.2204delC c.(2203-2205)ccg>cg p.P735fs LUAD 12 130919330 130919330 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr12:130919330C>G c.2151G>C c.(2149-2151)agG>agC p.R717S LUAD 12 130919333 130919333 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr12:130919333C>A c.2148G>T c.(2146-2148)aaG>aaT p.K716N LUAD 12 130919346 130919346 + Missense_Mutation SNP G G T TCGA-91-6836-01A-21D-1855-08 TCGA-91-6836-11A-01D-1855-08 g.chr12:130919346G>T c.2135C>A c.(2134-2136)tCt>tAt p.S712Y LUAD 12 130921572 130921572 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 g.chr12:130921572C>A c.1870G>T c.(1870-1872)Gcc>Tcc p.A624S LUAD 12 130921588 130921588 + Silent SNP G G A TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chr12:130921588G>A c.1854C>T c.(1852-1854)caC>caT p.H618H LUAD 12 130923022 130923022 + Missense_Mutation SNP C C A TCGA-97-A4M3-01A-11D-A24P-08 TCGA-97-A4M3-10A-01D-A24P-08 g.chr12:130923022C>A c.1493G>T c.(1492-1494)gGg>gTg p.G498V LUAD 12 130926460 130926460 + Silent SNP C C A TCGA-17-Z052-01A-01W-0747-08 TCGA-17-Z052-11A-01W-0747-08 g.chr12:130926460C>A c.1386G>T c.(1384-1386)ccG>ccT p.P462P LUAD 12 130926552 130926552 + Missense_Mutation SNP C C G TCGA-97-A4M0-01A-11D-A24P-08 TCGA-97-A4M0-10A-01D-A24P-08 g.chr12:130926552C>G c.1294G>C c.(1294-1296)Gtc>Ctc p.V432L LUAD 12 130926751 130926751 + Silent SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 g.chr12:130926751G>T c.1095C>A c.(1093-1095)cgC>cgA p.R365R LUAD 12 130926753 130926753 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 g.chr12:130926753G>T c.1093C>A c.(1093-1095)Cgc>Agc p.R365S LUAD 12 130926762 130926762 + Missense_Mutation SNP A A T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 g.chr12:130926762A>T c.1084T>A c.(1084-1086)Tgc>Agc p.C362S LUAD 12 130926814 130926814 + Silent SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 g.chr12:130926814G>A c.1032C>T c.(1030-1032)ctC>ctT p.L344L LUAD 12 130926866 130926866 + Frame_Shift_Del DEL C C - TCGA-17-Z030-01A-01W-0746-08 TCGA-17-Z030-11A-01W-0746-08 g.chr12:130926866delC c.980delG c.(979-981)ggafs p.G327fs LUAD 12 130926887 130926887 + Missense_Mutation SNP G G T TCGA-17-Z018-01A-01W-0746-08 TCGA-17-Z018-11A-01W-0746-08 g.chr12:130926887G>T c.959C>A c.(958-960)cCg>cAg p.P320Q LUAD 12 130927174 130927174 + Silent SNP C C T TCGA-MP-A4T4-01A-11D-A25L-08 TCGA-MP-A4T4-10A-01D-A25L-08 g.chr12:130927174C>T c.672G>A c.(670-672)gtG>gtA p.V224V LUAD 12 130934762 130934762 + Silent SNP G G A TCGA-97-A4M7-01A-11D-A24P-08 TCGA-97-A4M7-10A-01D-A24P-08 g.chr12:130934762G>A c.513C>T c.(511-513)ctC>ctT p.L171L LUAD 12 130935791 130935791 + Missense_Mutation SNP C C A TCGA-62-A470-01A-11D-A24D-08 TCGA-62-A470-10A-01D-A24F-08 g.chr12:130935791C>A c.402G>T c.(400-402)aaG>aaT p.K134N LUAD 12 130935811 130935811 + Missense_Mutation SNP G G T TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr12:130935811G>T c.382C>A c.(382-384)Ccg>Acg p.P128T LUAD 12 130935883 130935883 + Missense_Mutation SNP G G T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr12:130935883G>T c.310C>A c.(310-312)Cag>Aag p.Q104K LUAD 12 130941116 130941116 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr12:130941116G>T c.232C>A c.(232-234)Ccc>Acc p.P78T LUAD 12 130941231 130941231 + Missense_Mutation SNP C C G TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr12:130941231C>G c.117G>C c.(115-117)gaG>gaC p.E39D LUAD 12 130941233 130941233 + Nonsense_Mutation SNP C C A TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chr12:130941233C>A c.115G>T c.(115-117)Gag>Tag p.E39* LUAD 12 130963483 130963483 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr12:130963483G>T c.76C>A c.(76-78)Cag>Aag p.Q26K LUAD 12 130963548 130963548 + Missense_Mutation SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 g.chr12:130963548G>T c.11C>A c.(10-12)gCg>gAg p.A4E LUAD 12 130963550 130963550 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr12:130963550C>T c.9G>A c.(7-9)gaG>gaA p.E3E LUSC 12 130884263 130884263 + Silent SNP G G A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr12:130884263G>A c.3093C>T c.(3091-3093)caC>caT p.H1031H LUSC 12 130892301 130892301 + Silent SNP G G T TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr12:130892301G>T c.2895C>A c.(2893-2895)ccC>ccA p.P965P LUSC 12 130897317 130897317 + Missense_Mutation SNP C C A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 g.chr12:130897317C>A c.2668G>T c.(2668-2670)Gac>Tac p.D890Y LUSC 12 130912803 130912805 + In_Frame_Del DEL TCG TCG - TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 g.chr12:130912803_130912805delTCG c.2280_2282delCGA c.(2278-2283)gacgag>gag p.D760del LUSC 12 130919366 130919366 + Silent SNP G G A TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 g.chr12:130919366G>A c.2115C>T c.(2113-2115)gaC>gaT p.D705D LUSC 12 130921587 130921587 + Missense_Mutation SNP C C A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 g.chr12:130921587C>A c.1855G>T c.(1855-1857)Gcc>Tcc p.A619S LUSC 12 130922965 130922965 + Missense_Mutation SNP C C A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 g.chr12:130922965C>A c.1550G>T c.(1549-1551)gGg>gTg p.G517V LUSC 12 130926407 130926407 + Missense_Mutation SNP G G C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 g.chr12:130926407G>C c.1439C>G c.(1438-1440)tCc>tGc p.S480C LUSC 12 130926707 130926707 + Missense_Mutation SNP A A T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr12:130926707A>T c.1139T>A c.(1138-1140)cTg>cAg p.L380Q LUSC 12 130929768 130929768 + Missense_Mutation SNP G G T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 g.chr12:130929768G>T c.577C>A c.(577-579)Ccc>Acc p.P193T LUSC 12 130935770 130935770 + Silent SNP G G A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr12:130935770G>A c.423C>T c.(421-423)tcC>tcT p.S141S LUSC 12 130935867 130935867 + Missense_Mutation SNP C C T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 g.chr12:130935867C>T c.326G>A c.(325-327)gGa>gAa p.G109E LUSC 12 130941081 130941081 + Silent SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr12:130941081G>A c.267C>T c.(265-267)ttC>ttT p.F89F OV 12 130897146 130897174 + Splice_Site DEL ATAGGGGTTTGCGCTTACCTATTTTCTCC ATAGGGGTTTGCGCTTACCTATTTTCTCC - TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 g.chr12:130897146_130897174delATAGGGGTTTGCGCTTACCTATTTTCTCC c.2811_2822delGGAGAAAATAGGTAAGCGCAAACCCCTAT c.(2809-2823)gtggagaaaataggt>gtt p.EKIG938fs OV 12 130897166 130897166 + Missense_Mutation SNP A A G TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 g.chr12:130897166A>G c.2819T>C c.(2818-2820)aTa>aCa p.I940T OV 12 130926553 130926553 + Silent SNP G G T TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 g.chr12:130926553G>T c.1293C>A c.(1291-1293)atC>atA p.I431I OV 12 130926717 130926717 + Missense_Mutation SNP A A T TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 g.chr12:130926717A>T c.1129T>A c.(1129-1131)Tcg>Acg p.S377T OV 12 130926887 130926887 + Missense_Mutation SNP G G A TCGA-04-1649-01A-01W-0639-09 TCGA-04-1649-11A-01W-0639-09 g.chr12:130926887G>A c.959C>T c.(958-960)cCg>cTg p.P320L PAAD 12 130898738 130898738 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:130898738G>A c.2584C>T c.(2584-2586)Ctc>Ttc p.L862F PAAD 12 130919324 130919324 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:130919324G>A c.2157C>T c.(2155-2157)ggC>ggT p.G719G PAAD 12 130919411 130919411 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:130919411G>A c.2070C>T c.(2068-2070)agC>agT p.S690S PAAD 12 130921635 130921635 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:130921635C>A c.1807G>T c.(1807-1809)Gca>Tca p.A603S PAAD 12 130921729 130921729 + Silent SNP G G A TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 g.chr12:130921729G>A c.1713C>T c.(1711-1713)ggC>ggT p.G571G PAAD 12 130923012 130923012 + Silent SNP G G A TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 g.chr12:130923012G>A c.1503C>T c.(1501-1503)ccC>ccT p.P501P PAAD 12 130926715 130926715 + Silent SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 g.chr12:130926715C>T c.1131G>A c.(1129-1131)tcG>tcA p.S377S PAAD 12 130927081 130927081 + Silent SNP G G A TCGA-2L-AAQA-01A-21D-A38G-08 TCGA-2L-AAQA-11A-11D-A38J-08 g.chr12:130927081G>A c.765C>T c.(763-765)tcC>tcT p.S255S PRAD 12 130897244 130897244 + Missense_Mutation SNP A A G TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 g.chr12:130897244A>G c.2741T>C c.(2740-2742)aTa>aCa p.I914T PRAD 12 130919341 130919341 + Missense_Mutation SNP C C A TCGA-FC-A5OB-01A-11D-A29Q-08 TCGA-FC-A5OB-10A-01D-A29Q-08 g.chr12:130919341C>A c.2140G>T c.(2140-2142)Gac>Tac p.D714Y PRAD 12 130921640 130921640 + Missense_Mutation SNP G G T TCGA-KK-A5A1-01A-11D-A29Q-08 TCGA-KK-A5A1-11A-12D-A29Q-08 g.chr12:130921640G>T c.1802C>A c.(1801-1803)cCa>cAa p.P601Q PRAD 12 130926705 130926705 + Nonsense_Mutation SNP G G A TCGA-V1-A9O7-01A-21D-A41K-08 TCGA-V1-A9O7-10A-01D-A41N-08 g.chr12:130926705G>A c.1141C>T c.(1141-1143)Cag>Tag p.Q381* PRAD 12 130935764 130935764 + Silent SNP G G A TCGA-EJ-5494-01A-01D-1576-08 TCGA-EJ-5494-10A-01D-1577-08 g.chr12:130935764G>A c.429C>T c.(427-429)agC>agT p.S143S READ 12 130884319 130884319 + Missense_Mutation SNP A A G TCGA-EI-6510-01A-11D-1733-10 TCGA-EI-6510-10A-01D-1733-10 g.chr12:130884319A>G c.3037T>C c.(3037-3039)Ttc>Ctc p.F1013L READ 12 130890752 130890752 + Missense_Mutation SNP C C A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr12:130890752C>A c.2962G>T c.(2962-2964)Gtt>Ttt p.V988F READ 12 130892274 130892274 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:130892274G>A c.2922C>T c.(2920-2922)gtC>gtT p.V974V READ 12 130898850 130898850 + Splice_Site SNP G G A TCGA-AF-2687-01A-02D-1733-10 TCGA-AF-2687-10A-01D-1733-10 g.chr12:130898850G>A c.2472C>T c.(2470-2472)gaC>gaT p.D824D READ 12 130907040 130907040 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:130907040C>T c.2428G>A c.(2428-2430)Gct>Act p.A810T READ 12 130919422 130919422 + Nonsense_Mutation SNP C C A TCGA-AG-A036-01A-12W-A096-10 TCGA-AG-A036-11A-11W-A096-10 g.chr12:130919422C>A c.2059G>T c.(2059-2061)Gag>Tag p.E687* READ 12 130927134 130927134 + Missense_Mutation SNP G G A TCGA-F5-6811-01A-11D-1826-10 TCGA-F5-6811-10A-01D-1826-10 g.chr12:130927134G>A c.712C>T c.(712-714)Cgg>Tgg p.R238W READ 12 130941072 130941072 + Missense_Mutation SNP G G T TCGA-AG-3586-01A-02W-0831-10 TCGA-AG-3586-10A-01W-0831-10 g.chr12:130941072G>T c.276C>A c.(274-276)ttC>ttA p.F92L SARC 12 130907024 130907024 + Missense_Mutation SNP G G T TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 g.chr12:130907024G>T c.2444C>A c.(2443-2445)tCc>tAc p.S815Y SARC 12 130919312 130919312 + Silent SNP G G A TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 g.chr12:130919312G>A c.2169C>T c.(2167-2169)gaC>gaT p.D723D SARC 12 130921759 130921759 + Silent SNP G G A TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 g.chr12:130921759G>A c.1683C>T c.(1681-1683)ggC>ggT p.G561G SARC 12 130926493 130926493 + Silent SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr12:130926493C>T c.1353G>A c.(1351-1353)aaG>aaA p.K451K SARC 12 130926662 130926662 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr12:130926662G>A c.1184C>T c.(1183-1185)tCc>tTc p.S395F SARC 12 130926872 130926872 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr12:130926872C>T c.974G>A c.(973-975)gGa>gAa p.G325E SARC 12 130927121 130927121 + Missense_Mutation SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 g.chr12:130927121G>A c.725C>T c.(724-726)aCg>aTg p.T242M SARC 12 130927134 130927134 + Missense_Mutation SNP G G A TCGA-K1-A42W-01A-11D-A24N-09 TCGA-K1-A42W-10A-01D-A24N-09 g.chr12:130927134G>A c.712C>T c.(712-714)Cgg>Tgg p.R238W SKCM 12 130883684 130883684 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr12:130883684G>A c.3155C>T c.(3154-3156)cCt>cTt p.P1052L SKCM 12 130883694 130883694 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 g.chr12:130883694G>A c.3145C>T c.(3145-3147)Cat>Tat p.H1049Y SKCM 12 130884333 130884333 + Missense_Mutation SNP A A G TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr12:130884333A>G c.3023T>C c.(3022-3024)cTt>cCt p.L1008P SKCM 12 130892274 130892274 + Silent SNP G G A TCGA-EE-A29H-06A-12D-A197-08 TCGA-EE-A29H-10A-01D-A199-08 g.chr12:130892274G>A c.2922C>T c.(2920-2922)gtC>gtT p.V974V SKCM 12 130892297 130892297 + Missense_Mutation SNP C C G TCGA-D3-A51F-06A-11D-A25O-08 TCGA-D3-A51F-10A-01D-A25O-08 g.chr12:130892297C>G c.2899G>C c.(2899-2901)Gaa>Caa p.E967Q SKCM 12 130892332 130892332 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr12:130892332C>T c.2864G>A c.(2863-2865)cGg>cAg p.R955Q SKCM 12 130897266 130897266 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr12:130897266G>A c.2719C>T c.(2719-2721)Cct>Tct p.P907S SKCM 12 130897293 130897293 + Missense_Mutation SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr12:130897293C>T c.2692G>A c.(2692-2694)Gaa>Aaa p.E898K SKCM 12 130898676 130898676 + Silent SNP G G A TCGA-D3-A5GR-06A-11D-A27K-08 TCGA-D3-A5GR-10A-01D-A27N-08 g.chr12:130898676G>A c.2646C>T c.(2644-2646)atC>atT p.I882I SKCM 12 130898740 130898740 + Missense_Mutation SNP G G A TCGA-D3-A1Q5-06A-11D-A196-08 TCGA-D3-A1Q5-10A-01D-A198-08 g.chr12:130898740G>A c.2582C>T c.(2581-2583)cCg>cTg p.P861L SKCM 12 130898837 130898837 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr12:130898837C>T c.2485G>A c.(2485-2487)Gac>Aac p.D829N SKCM 12 130898849 130898849 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr12:130898849C>T c.2473G>A c.(2473-2475)Gat>Aat p.D825N SKCM 12 130907064 130907064 + Missense_Mutation SNP C C T TCGA-EE-A20F-06A-21D-A196-08 TCGA-EE-A20F-10A-01D-A198-08 g.chr12:130907064C>T c.2404G>A c.(2404-2406)Ggc>Agc p.G802S SKCM 12 130919293 130919293 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 g.chr12:130919293C>T c.2188G>A c.(2188-2190)Gaa>Aaa p.E730K SKCM 12 130919295 130919295 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr12:130919295G>A c.2186C>T c.(2185-2187)tCt>tTt p.S729F SKCM 12 130919306 130919306 + Silent SNP G G A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 g.chr12:130919306G>A c.2175C>T c.(2173-2175)ttC>ttT p.F725F SKCM 12 130919319 130919319 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr12:130919319G>A c.2162C>T c.(2161-2163)tCg>tTg p.S721L SKCM 12 130919328 130919328 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:130919328C>T c.2153G>A c.(2152-2154)aGg>aAg p.R718K SKCM 12 130919343 130919343 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr12:130919343G>A c.2138C>T c.(2137-2139)cCa>cTa p.P713L SKCM 12 130919365 130919365 + Missense_Mutation SNP C C T TCGA-EE-A29Q-06A-11D-A197-08 TCGA-EE-A29Q-10A-01D-A199-08 g.chr12:130919365C>T c.2116G>A c.(2116-2118)Gag>Aag p.E706K SKCM 12 130919399 130919399 + Missense_Mutation SNP C C G TCGA-DA-A3F5-06A-11D-A20D-08 TCGA-DA-A3F5-10A-01D-A20D-08 g.chr12:130919399C>G c.2082G>C c.(2080-2082)gaG>gaC p.E694D SKCM 12 130921582 130921582 + Silent SNP C C T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr12:130921582C>T c.1860G>A c.(1858-1860)agG>agA p.R620R SKCM 12 130921606 130921606 + Missense_Mutation SNP G G C TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 g.chr12:130921606G>C c.1836C>G c.(1834-1836)gaC>gaG p.D612E SKCM 12 130921760 130921760 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr12:130921760C>T c.1682G>A c.(1681-1683)gGc>gAc p.G561D SKCM 12 130922939 130922939 + Missense_Mutation SNP C C A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 g.chr12:130922939C>A c.1576G>T c.(1576-1578)Ggc>Tgc p.G526C SKCM 12 130926407 130926407 + Missense_Mutation SNP G G A TCGA-EE-A29Q-06A-11D-A197-08 TCGA-EE-A29Q-10A-01D-A199-08 g.chr12:130926407G>A c.1439C>T c.(1438-1440)tCc>tTc p.S480F SKCM 12 130926559 130926559 + Silent SNP G G A TCGA-EE-A2GP-06A-11D-A197-08 TCGA-EE-A2GP-10A-01D-A199-08 g.chr12:130926559G>A c.1287C>T c.(1285-1287)ttC>ttT p.F429F SKCM 12 130926570 130926570 + Missense_Mutation SNP C C T TCGA-EE-A29T-06A-11D-A197-08 TCGA-EE-A29T-10A-01D-A199-08 g.chr12:130926570C>T c.1276G>A c.(1276-1278)Gag>Aag p.E426K SKCM 12 130926570 130926570 + Missense_Mutation SNP C C T TCGA-FR-A44A-06A-11D-A24R-08 TCGA-FR-A44A-10A-01D-A24R-08 g.chr12:130926570C>T c.1276G>A c.(1276-1278)Gag>Aag p.E426K SKCM 12 130926629 130926629 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 g.chr12:130926629G>A c.1217C>T c.(1216-1218)tCc>tTc p.S406F SKCM 12 130926676 130926676 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr12:130926676C>T c.1170G>A c.(1168-1170)gtG>gtA p.V390V SKCM 12 130926716 130926716 + Missense_Mutation SNP G G A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr12:130926716G>A c.1130C>T c.(1129-1131)tCg>tTg p.S377L SKCM 12 130926778 130926778 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:130926778C>T c.1068G>A c.(1066-1068)aaG>aaA p.K356K SKCM 12 130926783 130926783 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr12:130926783C>T c.1063G>A c.(1063-1065)Gag>Aag p.E355K SKCM 12 130926844 130926844 + Silent SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr12:130926844G>A c.1002C>T c.(1000-1002)gtC>gtT p.V334V SKCM 12 130926975 130926975 + Missense_Mutation SNP C C T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr12:130926975C>T c.871G>A c.(871-873)Gac>Aac p.D291N SKCM 12 130927050 130927050 + Missense_Mutation SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr12:130927050C>T c.796G>A c.(796-798)Gac>Aac p.D266N SKCM 12 130927093 130927093 + Silent SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr12:130927093G>A c.753C>T c.(751-753)ttC>ttT p.F251F SKCM 12 130927093 130927093 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr12:130927093G>A c.753C>T c.(751-753)ttC>ttT p.F251F SKCM 12 130927115 130927115 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr12:130927115C>T c.731G>A c.(730-732)gGg>gAg p.G244E SKCM 12 130927162 130927162 + Silent SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr12:130927162G>A c.684C>T c.(682-684)ttC>ttT p.F228F SKCM 12 130927162 130927162 + Silent SNP G G A TCGA-GN-A262-06A-11D-A196-08 TCGA-GN-A262-10A-01D-A198-08 g.chr12:130927162G>A c.684C>T c.(682-684)ttC>ttT p.F228F SKCM 12 130927194 130927194 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr12:130927194C>T c.652G>A c.(652-654)Gat>Aat p.D218N SKCM 12 130927205 130927205 + Splice_Site SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:130927205C>T c.641G>A c.(640-642)gGa>gAa p.G214E SKCM 12 130929739 130929739 + Silent SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr12:130929739G>A c.606C>T c.(604-606)gtC>gtT p.V202V SKCM 12 130929789 130929789 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr12:130929789C>T c.556G>A c.(556-558)Gag>Aag p.E186K SKCM 12 130929789 130929789 + Missense_Mutation SNP C C T TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr12:130929789C>T c.556G>A c.(556-558)Gag>Aag p.E186K SKCM 12 130934774 130934774 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:130934774C>T c.501G>A c.(499-501)ggG>ggA p.G167G SKCM 12 130935832 130935832 + Missense_Mutation SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr12:130935832G>A c.361C>T c.(361-363)Ctt>Ttt p.L121F SKCM 12 130935833 130935833 + Silent SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr12:130935833G>A c.360C>T c.(358-360)ccC>ccT p.P120P SKCM 12 130935880 130935880 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr12:130935880C>T c.313G>A c.(313-315)Gag>Aag p.E105K SKCM 12 130941052 130941052 + Missense_Mutation SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr12:130941052G>A c.296C>T c.(295-297)tCc>tTc p.S99F SKCM 12 130941179 130941179 + Missense_Mutation SNP C C T TCGA-EE-A2GP-06A-11D-A197-08 TCGA-EE-A2GP-10A-01D-A199-08 g.chr12:130941179C>T c.169G>A c.(169-171)Gac>Aac p.D57N SKCM 12 130963465 130963465 + Silent SNP G G A TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr12:130963465G>A c.94C>T c.(94-96)Ctg>Ttg p.L32L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 12 130927111 130927111 single base substitution G A synonymous_variant N153N 459C>T ALL-US 12 130927111 130927111 single base substitution G A synonymous_variant N245N 735C>T BLCA-CN 12 130883701 130883701 single base substitution C T downstream_gene_variant BLCA-CN 12 130883701 130883701 single base substitution C T intron_variant BLCA-CN 12 130883701 130883701 single base substitution C T synonymous_variant K1046K 3138G>A BLCA-CN 12 130919368 130919368 single base substitution C G missense_variant D613H 1837G>C BLCA-CN 12 130919368 130919368 single base substitution C G missense_variant D705H 2113G>C BLCA-CN 12 130919415 130919415 single base substitution C T missense_variant R597K 1790G>A BLCA-CN 12 130919415 130919415 single base substitution C T missense_variant R689K 2066G>A BLCA-CN 12 130926432 130926432 single base substitution T A stop_gained K380* 1138A>T BLCA-CN 12 130926432 130926432 single base substitution T A stop_gained K472* 1414A>T BLCA-US 12 130912840 130912840 single base substitution G A downstream_gene_variant BLCA-US 12 130912840 130912840 single base substitution G A missense_variant R749W 2245C>T BLCA-US 12 130919336 130919336 single base substitution G A synonymous_variant F623F 1869C>T BLCA-US 12 130919336 130919336 single base substitution G A synonymous_variant F715F 2145C>T BLCA-US 12 130923033 130923033 single base substitution G A synonymous_variant T402T 1206C>T BLCA-US 12 130923033 130923033 single base substitution G A synonymous_variant T494T 1482C>T BLCA-US 12 130926567 130926567 single base substitution C A stop_gained E335* 1003G>T BLCA-US 12 130926567 130926567 single base substitution C A stop_gained E427* 1279G>T BLCA-US 12 130926783 130926783 single base substitution C T missense_variant E263K 787G>A BLCA-US 12 130926783 130926783 single base substitution C T missense_variant E355K 1063G>A BOCA-FR 12 130876912 130876912 single base substitution C A downstream_gene_variant BOCA-FR 12 130892343 130892343 single base substitution C T exon_variant BOCA-FR 12 130892343 130892343 single base substitution C T synonymous_variant S88S 264G>A BOCA-FR 12 130892343 130892343 single base substitution C T synonymous_variant S951S 2853G>A BOCA-FR 12 130922945 130922945 single base substitution C T missense_variant V432I 1294G>A BOCA-FR 12 130922945 130922945 single base substitution C T missense_variant V524I 1570G>A BOCA-FR 12 130932152 130932152 single base substitution C T intron_variant BOCA-FR 12 130954250 130954250 single base substitution A G downstream_gene_variant BOCA-FR 12 130954250 130954250 single base substitution A G intron_variant BOCA-FR 12 130967844 130967844 single base substitution G A intron_variant BOCA-FR 12 131009630 131009630 single base substitution C T intron_variant BOCA-FR 12 131017029 131017029 single base substitution C T intron_variant BOCA-FR 12 131072482 131072482 single base substitution C A intron_variant BOCA-FR 12 131091029 131091029 single base substitution G A intron_variant BOCA-FR 12 131124184 131124184 single base substitution G A intron_variant BOCA-FR 12 131170094 131170094 single base substitution G C intron_variant BOCA-UK 12 130922951 130922951 single base substitution C T missense_variant A430T 1288G>A BOCA-UK 12 130922951 130922951 single base substitution C T missense_variant A522T 1564G>A BRCA-EU 12 130875840 130875840 single base substitution C T downstream_gene_variant BRCA-EU 12 130875863 130875863 single base substitution G A downstream_gene_variant BRCA-EU 12 130876643 130876643 single base substitution T G downstream_gene_variant BRCA-EU 12 130877091 130877091 single base substitution C A downstream_gene_variant BRCA-EU 12 130877126 130877126 single base substitution A G downstream_gene_variant BRCA-EU 12 130877737 130877737 single base substitution G A downstream_gene_variant BRCA-EU 12 130878365 130878365 single base substitution G T downstream_gene_variant BRCA-EU 12 130878909 130878909 single base substitution C T downstream_gene_variant BRCA-EU 12 130879505 130879505 single base substitution G A downstream_gene_variant BRCA-EU 12 130879917 130879917 single base substitution A G downstream_gene_variant BRCA-EU 12 130880152 130880152 single base substitution T A downstream_gene_variant BRCA-EU 12 130880287 130880287 single base substitution T C downstream_gene_variant BRCA-EU 12 130880522 130880522 single base substitution C A downstream_gene_variant BRCA-EU 12 130880846 130880846 single base substitution C A 3_prime_UTR_variant BRCA-EU 12 130880846 130880846 single base substitution C A downstream_gene_variant BRCA-EU 12 130881088 130881088 single base substitution G A 3_prime_UTR_variant BRCA-EU 12 130881088 130881088 single base substitution G A downstream_gene_variant BRCA-EU 12 130881488 130881488 single base substitution A T 3_prime_UTR_variant BRCA-EU 12 130881488 130881488 single base substitution A T downstream_gene_variant BRCA-EU 12 130881634 130881634 single base substitution G T 3_prime_UTR_variant BRCA-EU 12 130881634 130881634 single base substitution G T downstream_gene_variant BRCA-EU 12 130882054 130882054 single base substitution G A 3_prime_UTR_variant BRCA-EU 12 130882054 130882054 single base substitution G A downstream_gene_variant BRCA-EU 12 130882183 130882183 single base substitution C A 3_prime_UTR_variant BRCA-EU 12 130882183 130882183 single base substitution C A downstream_gene_variant BRCA-EU 12 130882183 130882183 single base substitution C A intron_variant BRCA-EU 12 130882208 130882208 single base substitution G C 3_prime_UTR_variant BRCA-EU 12 130882208 130882208 single base substitution G C downstream_gene_variant BRCA-EU 12 130882208 130882208 single base substitution G C intron_variant BRCA-EU 12 130882597 130882597 single base substitution A C 3_prime_UTR_variant BRCA-EU 12 130882597 130882597 single base substitution A C downstream_gene_variant BRCA-EU 12 130882597 130882597 single base substitution A C intron_variant BRCA-EU 12 130883678 130883678 single base substitution G T 3_prime_UTR_variant BRCA-EU 12 130883678 130883678 single base substitution G T downstream_gene_variant BRCA-EU 12 130883678 130883678 single base substitution G T intron_variant BRCA-EU 12 130883750 130883750 single base substitution A T downstream_gene_variant BRCA-EU 12 130883750 130883750 single base substitution A T intron_variant BRCA-EU 12 130884224 130884224 single base substitution C G downstream_gene_variant BRCA-EU 12 130884224 130884224 single base substitution C G missense_variant R1044S 3132G>C BRCA-EU 12 130884224 130884224 single base substitution C G splice_region_variant BRCA-EU 12 130884286 130884286 single base substitution A G 3_prime_UTR_variant BRCA-EU 12 130884286 130884286 single base substitution A G downstream_gene_variant BRCA-EU 12 130884286 130884286 single base substitution A G missense_variant Y1024H 3070T>C BRCA-EU 12 130884642 130884642 single base substitution C A intron_variant BRCA-EU 12 130884763 130884763 single base substitution C T intron_variant BRCA-EU 12 130885013 130885013 single base substitution A T intron_variant BRCA-EU 12 130885915 130885915 single base substitution C A intron_variant BRCA-EU 12 130887078 130887078 single base substitution A G intron_variant BRCA-EU 12 130887094 130887094 single base substitution C A intron_variant BRCA-EU 12 130887219 130887219 single base substitution A G intron_variant BRCA-EU 12 130887268 130887268 single base substitution C T intron_variant BRCA-EU 12 130887430 130887430 single base substitution T C intron_variant BRCA-EU 12 130887564 130887564 single base substitution C A intron_variant BRCA-EU 12 130887629 130887629 single base substitution G A intron_variant BRCA-EU 12 130887714 130887714 single base substitution G C intron_variant BRCA-EU 12 130888395 130888395 single base substitution T C intron_variant BRCA-EU 12 130888734 130888734 single base substitution T A intron_variant BRCA-EU 12 130888924 130888924 single base substitution C A intron_variant BRCA-EU 12 130889618 130889618 single base substitution G A intron_variant BRCA-EU 12 130889772 130889772 single base substitution G A intron_variant BRCA-EU 12 130889887 130889887 single base substitution C T intron_variant BRCA-EU 12 130890374 130890374 single base substitution C A intron_variant BRCA-EU 12 130890459 130890459 single base substitution T A intron_variant BRCA-EU 12 130890610 130890610 single base substitution C T intron_variant BRCA-EU 12 130891012 130891012 single base substitution C T intron_variant BRCA-EU 12 130891445 130891445 single base substitution C G intron_variant BRCA-EU 12 130891476 130891476 single base substitution G C intron_variant BRCA-EU 12 130892573 130892575 deletion of <=200bp TGC - intron_variant BRCA-EU 12 130892573 130892575 deletion of <=200bp TGC - upstream_gene_variant BRCA-EU 12 130893425 130893425 single base substitution C A intron_variant BRCA-EU 12 130893425 130893425 single base substitution C A upstream_gene_variant BRCA-EU 12 130893468 130893468 single base substitution G C intron_variant BRCA-EU 12 130893468 130893468 single base substitution G C upstream_gene_variant BRCA-EU 12 130893950 130893950 single base substitution C T intron_variant BRCA-EU 12 130893950 130893950 single base substitution C T upstream_gene_variant BRCA-EU 12 130895727 130895727 deletion of <=200bp G - intron_variant BRCA-EU 12 130895727 130895727 deletion of <=200bp G - upstream_gene_variant BRCA-EU 12 130895907 130895907 single base substitution G A intron_variant BRCA-EU 12 130895907 130895907 single base substitution G A upstream_gene_variant BRCA-EU 12 130896482 130896482 single base substitution T C intron_variant BRCA-EU 12 130896482 130896482 single base substitution T C upstream_gene_variant BRCA-EU 12 130896516 130896516 single base substitution C T intron_variant BRCA-EU 12 130896516 130896516 single base substitution C T upstream_gene_variant BRCA-EU 12 130896568 130896568 deletion of <=200bp T - intron_variant BRCA-EU 12 130896568 130896568 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 130896608 130896608 single base substitution T A intron_variant BRCA-EU 12 130896608 130896608 single base substitution T A upstream_gene_variant BRCA-EU 12 130896720 130896720 single base substitution C T intron_variant BRCA-EU 12 130896720 130896720 single base substitution C T upstream_gene_variant BRCA-EU 12 130897105 130897105 single base substitution C T intron_variant BRCA-EU 12 130897105 130897105 single base substitution C T upstream_gene_variant BRCA-EU 12 130897751 130897751 single base substitution C A intron_variant BRCA-EU 12 130898729 130898729 single base substitution A C missense_variant S2A 4T>G BRCA-EU 12 130898729 130898729 single base substitution A C missense_variant S865A 2593T>G BRCA-EU 12 130898739 130898739 single base substitution C A 5_prime_UTR_variant BRCA-EU 12 130898739 130898739 single base substitution C A synonymous_variant P861P 2583G>T BRCA-EU 12 130899051 130899051 single base substitution C T 5_prime_UTR_variant BRCA-EU 12 130899051 130899051 single base substitution C T intron_variant BRCA-EU 12 130899141 130899141 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 12 130899141 130899141 single base substitution G A intron_variant BRCA-EU 12 130900303 130900303 single base substitution C G intron_variant BRCA-EU 12 130900303 130900303 single base substitution C G upstream_gene_variant BRCA-EU 12 130901274 130901274 single base substitution T C intron_variant BRCA-EU 12 130901274 130901274 single base substitution T C upstream_gene_variant BRCA-EU 12 130901711 130901711 single base substitution C T intron_variant BRCA-EU 12 130901711 130901711 single base substitution C T upstream_gene_variant BRCA-EU 12 130903375 130903375 single base substitution C G intron_variant BRCA-EU 12 130903375 130903375 single base substitution C G upstream_gene_variant BRCA-EU 12 130904128 130904128 single base substitution A T intron_variant BRCA-EU 12 130904128 130904128 single base substitution A T upstream_gene_variant BRCA-EU 12 130904888 130904888 single base substitution C A intron_variant BRCA-EU 12 130905777 130905777 single base substitution G A intron_variant BRCA-EU 12 130906593 130906593 single base substitution A C intron_variant BRCA-EU 12 130906618 130906618 single base substitution G A intron_variant BRCA-EU 12 130906678 130906678 single base substitution C A intron_variant BRCA-EU 12 130906766 130906766 single base substitution G C intron_variant BRCA-EU 12 130907059 130907059 single base substitution C A synonymous_variant R803R 2409G>T BRCA-EU 12 130907340 130907340 single base substitution T C intron_variant BRCA-EU 12 130908133 130908133 single base substitution A C intron_variant BRCA-EU 12 130908134 130908134 single base substitution A T intron_variant BRCA-EU 12 130908928 130908928 single base substitution G A intron_variant BRCA-EU 12 130908950 130908950 single base substitution G T intron_variant BRCA-EU 12 130909112 130909112 single base substitution G C intron_variant BRCA-EU 12 130909431 130909431 single base substitution C T intron_variant BRCA-EU 12 130909515 130909515 insertion of <=200bp - G intron_variant BRCA-EU 12 130909634 130909634 single base substitution C A intron_variant BRCA-EU 12 130910383 130910383 single base substitution C G intron_variant BRCA-EU 12 130910710 130910710 single base substitution C T intron_variant BRCA-EU 12 130911254 130911254 single base substitution G T downstream_gene_variant BRCA-EU 12 130911254 130911254 single base substitution G T intron_variant BRCA-EU 12 130911896 130911896 single base substitution G T downstream_gene_variant BRCA-EU 12 130911896 130911896 single base substitution G T intron_variant BRCA-EU 12 130912218 130912218 single base substitution C A downstream_gene_variant BRCA-EU 12 130912218 130912218 single base substitution C A intron_variant BRCA-EU 12 130912227 130912227 single base substitution C T downstream_gene_variant BRCA-EU 12 130912227 130912227 single base substitution C T intron_variant BRCA-EU 12 130912973 130912973 single base substitution C T downstream_gene_variant BRCA-EU 12 130912973 130912973 single base substitution C T intron_variant BRCA-EU 12 130913368 130913368 single base substitution C T downstream_gene_variant BRCA-EU 12 130913368 130913368 single base substitution C T intron_variant BRCA-EU 12 130913720 130913720 single base substitution G A downstream_gene_variant BRCA-EU 12 130913720 130913720 single base substitution G A intron_variant BRCA-EU 12 130913944 130913944 single base substitution G A downstream_gene_variant BRCA-EU 12 130913944 130913944 single base substitution G A intron_variant BRCA-EU 12 130914003 130914003 single base substitution T C downstream_gene_variant BRCA-EU 12 130914003 130914003 single base substitution T C intron_variant BRCA-EU 12 130914805 130914805 single base substitution G A downstream_gene_variant BRCA-EU 12 130914805 130914805 single base substitution G A intron_variant BRCA-EU 12 130916308 130916308 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 130916308 130916308 single base substitution C T intron_variant BRCA-EU 12 130917281 130917281 single base substitution C T intron_variant BRCA-EU 12 130917435 130917435 single base substitution G T intron_variant BRCA-EU 12 130917504 130917504 single base substitution G T intron_variant BRCA-EU 12 130920462 130920462 single base substitution G A intron_variant BRCA-EU 12 130920786 130920786 single base substitution T A intron_variant BRCA-EU 12 130920991 130920992 deletion of <=200bp CA - intron_variant BRCA-EU 12 130921752 130921752 single base substitution C T missense_variant V472M 1414G>A BRCA-EU 12 130921752 130921752 single base substitution C T missense_variant V564M 1690G>A BRCA-EU 12 130921779 130921779 single base substitution G A missense_variant R463W 1387C>T BRCA-EU 12 130921779 130921779 single base substitution G A missense_variant R555W 1663C>T BRCA-EU 12 130922189 130922189 single base substitution C T intron_variant BRCA-EU 12 130922395 130922395 single base substitution T A intron_variant BRCA-EU 12 130923150 130923150 single base substitution C T intron_variant BRCA-EU 12 130924803 130924803 single base substitution A G intron_variant BRCA-EU 12 130924893 130924893 single base substitution G C intron_variant BRCA-EU 12 130925155 130925155 deletion of <=200bp A - intron_variant BRCA-EU 12 130925426 130925426 single base substitution C T intron_variant BRCA-EU 12 130926198 130926198 single base substitution C G intron_variant BRCA-EU 12 130926311 130926311 single base substitution T C intron_variant BRCA-EU 12 130926679 130926679 single base substitution G A synonymous_variant D297D 891C>T BRCA-EU 12 130926679 130926679 single base substitution G A synonymous_variant D389D 1167C>T BRCA-EU 12 130926969 130926969 single base substitution C T missense_variant G201R 601G>A BRCA-EU 12 130926969 130926969 single base substitution C T missense_variant G293R 877G>A BRCA-EU 12 130927498 130927498 single base substitution G A intron_variant BRCA-EU 12 130927628 130927628 single base substitution G A intron_variant BRCA-EU 12 130928064 130928064 single base substitution G C intron_variant BRCA-EU 12 130928979 130928979 single base substitution T G intron_variant BRCA-EU 12 130928997 130928997 single base substitution C A intron_variant BRCA-EU 12 130929156 130929156 single base substitution G C intron_variant BRCA-EU 12 130929251 130929251 single base substitution A T intron_variant BRCA-EU 12 130929322 130929322 single base substitution A T intron_variant BRCA-EU 12 130930305 130930305 single base substitution G C intron_variant BRCA-EU 12 130931939 130931939 single base substitution C T intron_variant BRCA-EU 12 130932231 130932231 single base substitution G T intron_variant BRCA-EU 12 130932356 130932356 single base substitution G A intron_variant BRCA-EU 12 130933122 130933122 single base substitution C G intron_variant BRCA-EU 12 130933736 130933736 single base substitution G A intron_variant BRCA-EU 12 130933901 130933901 single base substitution C T intron_variant BRCA-EU 12 130933933 130933933 single base substitution C T intron_variant BRCA-EU 12 130934005 130934005 single base substitution C T intron_variant BRCA-EU 12 130934021 130934021 single base substitution G A intron_variant BRCA-EU 12 130934407 130934407 single base substitution C T intron_variant BRCA-EU 12 130935131 130935131 single base substitution G A intron_variant BRCA-EU 12 130935562 130935562 deletion of <=200bp C - intron_variant BRCA-EU 12 130935714 130935714 single base substitution G A intron_variant BRCA-EU 12 130935797 130935797 single base substitution G A synonymous_variant S132S 396C>T BRCA-EU 12 130935797 130935797 single base substitution G A synonymous_variant S40S 120C>T BRCA-EU 12 130936102 130936102 single base substitution C T intron_variant BRCA-EU 12 130936414 130936414 single base substitution A G intron_variant BRCA-EU 12 130936478 130936478 deletion of <=200bp A - intron_variant BRCA-EU 12 130936816 130936816 single base substitution A C intron_variant BRCA-EU 12 130936861 130936861 single base substitution G A intron_variant BRCA-EU 12 130936991 130936991 single base substitution A T intron_variant BRCA-EU 12 130937450 130937450 single base substitution C T intron_variant BRCA-EU 12 130938777 130938777 single base substitution G A intron_variant BRCA-EU 12 130938927 130938927 single base substitution A T intron_variant BRCA-EU 12 130939302 130939302 single base substitution C G intron_variant BRCA-EU 12 130940208 130940208 single base substitution C A intron_variant BRCA-EU 12 130940259 130940259 single base substitution C A intron_variant BRCA-EU 12 130940307 130940307 deletion of <=200bp T - intron_variant BRCA-EU 12 130940339 130940339 single base substitution G A intron_variant BRCA-EU 12 130940688 130940688 single base substitution G A intron_variant BRCA-EU 12 130940750 130940750 single base substitution G T intron_variant BRCA-EU 12 130940974 130940974 single base substitution A G intron_variant BRCA-EU 12 130941159 130941159 single base substitution C T 5_prime_UTR_variant BRCA-EU 12 130941159 130941159 single base substitution C T synonymous_variant Q63Q 189G>A BRCA-EU 12 130941917 130941917 single base substitution A T intron_variant BRCA-EU 12 130941986 130941986 single base substitution C A intron_variant BRCA-EU 12 130942941 130942941 single base substitution C G intron_variant BRCA-EU 12 130943834 130943834 single base substitution G A intron_variant BRCA-EU 12 130944839 130944839 single base substitution G A intron_variant BRCA-EU 12 130944865 130944865 single base substitution G A intron_variant BRCA-EU 12 130946301 130946301 single base substitution C T intron_variant BRCA-EU 12 130946304 130946304 single base substitution G T intron_variant BRCA-EU 12 130947033 130947033 single base substitution C T intron_variant BRCA-EU 12 130947402 130947402 single base substitution G T intron_variant BRCA-EU 12 130947799 130947799 single base substitution C T intron_variant BRCA-EU 12 130947869 130947869 single base substitution G A intron_variant BRCA-EU 12 130948828 130948828 single base substitution T G intron_variant BRCA-EU 12 130949031 130949053 multiple base substitution (>=2bp and <=200bp) CCAGGCCCTACGTGATTTCATTG CCAGGCCCTCTGATTTCATAG intron_variant BRCA-EU 12 130949102 130949102 insertion of <=200bp - GATCACTGGCTGAATACCTACTATGTGCCAGGCCCTCTGATTTCATA intron_variant BRCA-EU 12 130949627 130949627 single base substitution G A intron_variant BRCA-EU 12 130950389 130950389 single base substitution G A downstream_gene_variant BRCA-EU 12 130950389 130950389 single base substitution G A intron_variant BRCA-EU 12 130950891 130950891 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 130950891 130950891 deletion of <=200bp A - intron_variant BRCA-EU 12 130950946 130950946 single base substitution A G downstream_gene_variant BRCA-EU 12 130950946 130950946 single base substitution A G intron_variant BRCA-EU 12 130951184 130951184 single base substitution C A downstream_gene_variant BRCA-EU 12 130951184 130951184 single base substitution C A intron_variant BRCA-EU 12 130952778 130952778 single base substitution C T downstream_gene_variant BRCA-EU 12 130952778 130952778 single base substitution C T intron_variant BRCA-EU 12 130953156 130953156 single base substitution G A downstream_gene_variant BRCA-EU 12 130953156 130953156 single base substitution G A intron_variant BRCA-EU 12 130953405 130953405 single base substitution C A downstream_gene_variant BRCA-EU 12 130953405 130953405 single base substitution C A intron_variant BRCA-EU 12 130953481 130953481 single base substitution G A downstream_gene_variant BRCA-EU 12 130953481 130953481 single base substitution G A intron_variant BRCA-EU 12 130954196 130954196 single base substitution G A downstream_gene_variant BRCA-EU 12 130954196 130954196 single base substitution G A intron_variant BRCA-EU 12 130955002 130955002 single base substitution A C exon_variant BRCA-EU 12 130955002 130955002 single base substitution A C intron_variant BRCA-EU 12 130955196 130955196 single base substitution C T exon_variant BRCA-EU 12 130955196 130955196 single base substitution C T intron_variant BRCA-EU 12 130955333 130955333 single base substitution G A intron_variant BRCA-EU 12 130956141 130956141 single base substitution G A intron_variant BRCA-EU 12 130956281 130956281 single base substitution C A intron_variant BRCA-EU 12 130956824 130956824 single base substitution C A 5_prime_UTR_variant BRCA-EU 12 130956824 130956824 single base substitution C A intron_variant BRCA-EU 12 130956909 130956909 single base substitution C T intron_variant BRCA-EU 12 130956922 130956922 single base substitution C T intron_variant BRCA-EU 12 130956923 130956923 single base substitution G A intron_variant BRCA-EU 12 130957269 130957269 single base substitution A T intron_variant BRCA-EU 12 130958036 130958036 single base substitution C A intron_variant BRCA-EU 12 130958098 130958098 single base substitution G A intron_variant BRCA-EU 12 130958421 130958421 single base substitution C T intron_variant BRCA-EU 12 130958659 130958659 single base substitution C A intron_variant BRCA-EU 12 130959158 130959158 single base substitution G C intron_variant BRCA-EU 12 130959834 130959834 single base substitution G T intron_variant BRCA-EU 12 130960432 130960432 single base substitution G A intron_variant BRCA-EU 12 130961190 130961190 single base substitution G A intron_variant BRCA-EU 12 130961659 130961659 single base substitution C A intron_variant BRCA-EU 12 130961876 130961876 single base substitution A T intron_variant BRCA-EU 12 130962778 130962778 single base substitution C A intron_variant BRCA-EU 12 130962915 130962915 single base substitution C T intron_variant BRCA-EU 12 130962964 130962964 single base substitution C T intron_variant BRCA-EU 12 130963007 130963007 single base substitution C T intron_variant BRCA-EU 12 130963435 130963435 single base substitution C T intron_variant BRCA-EU 12 130963677 130963677 single base substitution C G intron_variant BRCA-EU 12 130963956 130963956 single base substitution G C intron_variant BRCA-EU 12 130964069 130964069 single base substitution G A intron_variant BRCA-EU 12 130964154 130964154 single base substitution G A intron_variant BRCA-EU 12 130964917 130964917 single base substitution G A intron_variant BRCA-EU 12 130965361 130965361 single base substitution G C intron_variant BRCA-EU 12 130965425 130965425 single base substitution C T intron_variant BRCA-EU 12 130965519 130965519 single base substitution A G intron_variant BRCA-EU 12 130966390 130966390 single base substitution C T intron_variant BRCA-EU 12 130967660 130967660 single base substitution T C intron_variant BRCA-EU 12 130968274 130968274 single base substitution C T intron_variant BRCA-EU 12 130968335 130968335 single base substitution G A intron_variant BRCA-EU 12 130968462 130968462 single base substitution C T intron_variant BRCA-EU 12 130969744 130969744 single base substitution G T intron_variant BRCA-EU 12 130970058 130970058 single base substitution C T intron_variant BRCA-EU 12 130970286 130970286 single base substitution G A intron_variant BRCA-EU 12 130971337 130971337 single base substitution C T intron_variant BRCA-EU 12 130972473 130972473 single base substitution C A intron_variant BRCA-EU 12 130973468 130973468 single base substitution G A intron_variant BRCA-EU 12 130974767 130974767 single base substitution A T intron_variant BRCA-EU 12 130975461 130975461 single base substitution G A intron_variant BRCA-EU 12 130975566 130975566 single base substitution A G intron_variant BRCA-EU 12 130975778 130975778 single base substitution T A intron_variant BRCA-EU 12 130976033 130976033 single base substitution T C intron_variant BRCA-EU 12 130976211 130976211 single base substitution G A intron_variant BRCA-EU 12 130976434 130976434 single base substitution C T intron_variant BRCA-EU 12 130976982 130976982 single base substitution G A intron_variant BRCA-EU 12 130977112 130977112 single base substitution C A intron_variant BRCA-EU 12 130977160 130977160 single base substitution A G intron_variant BRCA-EU 12 130978446 130978446 single base substitution C A intron_variant BRCA-EU 12 130978698 130978698 single base substitution T A intron_variant BRCA-EU 12 130978889 130978889 single base substitution G A intron_variant BRCA-EU 12 130978982 130978982 single base substitution G A intron_variant BRCA-EU 12 130979410 130979410 single base substitution C T intron_variant BRCA-EU 12 130980165 130980165 single base substitution G T intron_variant BRCA-EU 12 130980396 130980396 single base substitution C A intron_variant BRCA-EU 12 130980602 130980602 single base substitution G T intron_variant BRCA-EU 12 130980815 130980815 single base substitution C G intron_variant BRCA-EU 12 130981537 130981537 single base substitution T C intron_variant BRCA-EU 12 130981657 130981657 single base substitution C G intron_variant BRCA-EU 12 130982213 130982213 deletion of <=200bp T - intron_variant BRCA-EU 12 130982834 130982834 single base substitution G A intron_variant BRCA-EU 12 130983215 130983215 single base substitution C T intron_variant BRCA-EU 12 130983216 130983216 single base substitution G C intron_variant BRCA-EU 12 130983517 130983517 single base substitution A G intron_variant BRCA-EU 12 130984168 130984168 single base substitution C A intron_variant BRCA-EU 12 130984677 130984677 single base substitution C A intron_variant BRCA-EU 12 130985507 130985507 single base substitution G A intron_variant BRCA-EU 12 130986318 130986318 single base substitution C T intron_variant BRCA-EU 12 130986820 130986820 single base substitution T C intron_variant BRCA-EU 12 130987053 130987053 single base substitution C T intron_variant BRCA-EU 12 130990872 130990872 single base substitution C A intron_variant BRCA-EU 12 130990946 130990946 deletion of <=200bp T - intron_variant BRCA-EU 12 130990950 130990950 single base substitution A G intron_variant BRCA-EU 12 130990985 130990985 single base substitution C T intron_variant BRCA-EU 12 130991304 130991304 single base substitution C A 5_prime_UTR_variant BRCA-EU 12 130991304 130991304 single base substitution C A exon_variant BRCA-EU 12 130991621 130991621 single base substitution G A intron_variant BRCA-EU 12 130991621 130991621 single base substitution G A upstream_gene_variant BRCA-EU 12 130991722 130991722 single base substitution C T intron_variant BRCA-EU 12 130991722 130991722 single base substitution C T upstream_gene_variant BRCA-EU 12 130991762 130991763 deletion of <=200bp TG - intron_variant BRCA-EU 12 130991762 130991763 deletion of <=200bp TG - upstream_gene_variant BRCA-EU 12 130992091 130992091 single base substitution A C intron_variant BRCA-EU 12 130992091 130992091 single base substitution A C upstream_gene_variant BRCA-EU 12 130992581 130992581 single base substitution C A intron_variant BRCA-EU 12 130992581 130992581 single base substitution C A upstream_gene_variant BRCA-EU 12 130994681 130994681 single base substitution T A intron_variant BRCA-EU 12 130994681 130994681 single base substitution T A upstream_gene_variant BRCA-EU 12 130994918 130994918 single base substitution G A intron_variant BRCA-EU 12 130994918 130994918 single base substitution G A upstream_gene_variant BRCA-EU 12 130995164 130995164 single base substitution C T intron_variant BRCA-EU 12 130995164 130995164 single base substitution C T upstream_gene_variant BRCA-EU 12 130995288 130995288 single base substitution A G intron_variant BRCA-EU 12 130995288 130995288 single base substitution A G upstream_gene_variant BRCA-EU 12 130996445 130996445 single base substitution G A intron_variant BRCA-EU 12 130996792 130996792 single base substitution G T intron_variant BRCA-EU 12 130998596 130998596 single base substitution G C intron_variant BRCA-EU 12 130998727 130998727 single base substitution C G intron_variant BRCA-EU 12 130998821 130998821 deletion of <=200bp C - intron_variant BRCA-EU 12 130999567 130999567 single base substitution A G intron_variant BRCA-EU 12 130999612 130999612 single base substitution G T intron_variant BRCA-EU 12 131000388 131000388 single base substitution G A intron_variant BRCA-EU 12 131000537 131000537 single base substitution G A intron_variant BRCA-EU 12 131000583 131000583 single base substitution A G intron_variant BRCA-EU 12 131000805 131000805 single base substitution T C intron_variant BRCA-EU 12 131000870 131000870 single base substitution C A intron_variant BRCA-EU 12 131001229 131001229 single base substitution G T intron_variant BRCA-EU 12 131003018 131003018 single base substitution A T intron_variant BRCA-EU 12 131003018 131003018 single base substitution A T upstream_gene_variant BRCA-EU 12 131003668 131003668 single base substitution T A intron_variant BRCA-EU 12 131003668 131003668 single base substitution T A upstream_gene_variant BRCA-EU 12 131004763 131004763 single base substitution G A intron_variant BRCA-EU 12 131004763 131004763 single base substitution G A upstream_gene_variant BRCA-EU 12 131006627 131006627 single base substitution C T intron_variant BRCA-EU 12 131006627 131006627 single base substitution C T upstream_gene_variant BRCA-EU 12 131006674 131006674 single base substitution C T intron_variant BRCA-EU 12 131006674 131006674 single base substitution C T upstream_gene_variant BRCA-EU 12 131008082 131008082 deletion of <=200bp C - intron_variant BRCA-EU 12 131008756 131008756 single base substitution C A intron_variant BRCA-EU 12 131009290 131009290 single base substitution A G intron_variant BRCA-EU 12 131009482 131009482 single base substitution G A intron_variant BRCA-EU 12 131009610 131009610 single base substitution A G intron_variant BRCA-EU 12 131010271 131010271 single base substitution G A intron_variant BRCA-EU 12 131010702 131010702 single base substitution C G intron_variant BRCA-EU 12 131010945 131010945 single base substitution A G intron_variant BRCA-EU 12 131011419 131011419 single base substitution C A intron_variant BRCA-EU 12 131011828 131011828 single base substitution C A intron_variant BRCA-EU 12 131012941 131012941 single base substitution G A intron_variant BRCA-EU 12 131013441 131013441 single base substitution G T intron_variant BRCA-EU 12 131013816 131013816 single base substitution C T intron_variant BRCA-EU 12 131014732 131014732 single base substitution C A intron_variant BRCA-EU 12 131015078 131015078 single base substitution C A intron_variant BRCA-EU 12 131017137 131017137 single base substitution G A intron_variant BRCA-EU 12 131017369 131017369 single base substitution T G intron_variant BRCA-EU 12 131017569 131017569 single base substitution G A intron_variant BRCA-EU 12 131018150 131018150 single base substitution G A intron_variant BRCA-EU 12 131018466 131018466 single base substitution T G intron_variant BRCA-EU 12 131020377 131020377 single base substitution G A intron_variant BRCA-EU 12 131020526 131020526 single base substitution G C intron_variant BRCA-EU 12 131020750 131020750 single base substitution G C intron_variant BRCA-EU 12 131020936 131020936 single base substitution C G intron_variant BRCA-EU 12 131020969 131020969 single base substitution C A intron_variant BRCA-EU 12 131021148 131021148 single base substitution A T intron_variant BRCA-EU 12 131022722 131022722 single base substitution A G intron_variant BRCA-EU 12 131022909 131022909 single base substitution C T intron_variant BRCA-EU 12 131023281 131023281 single base substitution G A intron_variant BRCA-EU 12 131024838 131024838 single base substitution G A intron_variant BRCA-EU 12 131025298 131025298 single base substitution G T intron_variant BRCA-EU 12 131026269 131026269 single base substitution A G intron_variant BRCA-EU 12 131026410 131026410 single base substitution C A intron_variant BRCA-EU 12 131026431 131026431 single base substitution C G intron_variant BRCA-EU 12 131027823 131027823 deletion of <=200bp T - intron_variant BRCA-EU 12 131028218 131028218 single base substitution G T intron_variant BRCA-EU 12 131028734 131028734 single base substitution C A intron_variant BRCA-EU 12 131028880 131028880 single base substitution C G intron_variant BRCA-EU 12 131028935 131028935 single base substitution G A intron_variant BRCA-EU 12 131029206 131029206 single base substitution G A intron_variant BRCA-EU 12 131029243 131029243 single base substitution G A intron_variant BRCA-EU 12 131029365 131029365 single base substitution T C intron_variant BRCA-EU 12 131029437 131029437 single base substitution G C intron_variant BRCA-EU 12 131029804 131029804 single base substitution G A intron_variant BRCA-EU 12 131029814 131029814 single base substitution T A intron_variant BRCA-EU 12 131030275 131030275 single base substitution T C intron_variant BRCA-EU 12 131030733 131030733 single base substitution C G intron_variant BRCA-EU 12 131030880 131030880 single base substitution G T intron_variant BRCA-EU 12 131032431 131032431 single base substitution G T intron_variant BRCA-EU 12 131032670 131032670 single base substitution C T intron_variant BRCA-EU 12 131033211 131033211 single base substitution C T intron_variant BRCA-EU 12 131033460 131033460 single base substitution G A intron_variant BRCA-EU 12 131034628 131034628 single base substitution C T intron_variant BRCA-EU 12 131034760 131034760 single base substitution C A intron_variant BRCA-EU 12 131035070 131035070 single base substitution T C intron_variant BRCA-EU 12 131035350 131035350 single base substitution A G intron_variant BRCA-EU 12 131036065 131036065 single base substitution G A intron_variant BRCA-EU 12 131036600 131036600 single base substitution G T intron_variant BRCA-EU 12 131036695 131036695 single base substitution A G intron_variant BRCA-EU 12 131036855 131036855 single base substitution C T intron_variant BRCA-EU 12 131036856 131036856 single base substitution C A intron_variant BRCA-EU 12 131037047 131037047 single base substitution A G intron_variant BRCA-EU 12 131037915 131037915 single base substitution A T intron_variant BRCA-EU 12 131038207 131038207 single base substitution T A intron_variant BRCA-EU 12 131038720 131038720 single base substitution G C intron_variant BRCA-EU 12 131039639 131039639 single base substitution G T intron_variant BRCA-EU 12 131039952 131039952 single base substitution G A intron_variant BRCA-EU 12 131040782 131040782 single base substitution G A intron_variant BRCA-EU 12 131041383 131041383 single base substitution G C intron_variant BRCA-EU 12 131041703 131041703 single base substitution G A intron_variant BRCA-EU 12 131041965 131041965 single base substitution G C intron_variant BRCA-EU 12 131042000 131042000 single base substitution G A intron_variant BRCA-EU 12 131042683 131042683 single base substitution C A intron_variant BRCA-EU 12 131043066 131043066 single base substitution C T intron_variant BRCA-EU 12 131043738 131043738 single base substitution G A intron_variant BRCA-EU 12 131043752 131043752 single base substitution C A intron_variant BRCA-EU 12 131044461 131044461 single base substitution G T intron_variant BRCA-EU 12 131044619 131044619 single base substitution A G intron_variant BRCA-EU 12 131045092 131045092 single base substitution G C intron_variant BRCA-EU 12 131046117 131046117 single base substitution G A intron_variant BRCA-EU 12 131046341 131046341 single base substitution T C intron_variant BRCA-EU 12 131046834 131046834 single base substitution T C intron_variant BRCA-EU 12 131047906 131047906 single base substitution C T intron_variant BRCA-EU 12 131047976 131047976 single base substitution C A intron_variant BRCA-EU 12 131048450 131048450 single base substitution C T intron_variant BRCA-EU 12 131049269 131049269 single base substitution G T intron_variant BRCA-EU 12 131049480 131049480 single base substitution G A intron_variant BRCA-EU 12 131051480 131051480 single base substitution G T intron_variant BRCA-EU 12 131052313 131052313 single base substitution C T intron_variant BRCA-EU 12 131052677 131052677 single base substitution C T intron_variant BRCA-EU 12 131053808 131053808 single base substitution G T intron_variant BRCA-EU 12 131053926 131053926 single base substitution C A intron_variant BRCA-EU 12 131053953 131053953 single base substitution G A intron_variant BRCA-EU 12 131054045 131054045 single base substitution G A intron_variant BRCA-EU 12 131054153 131054153 single base substitution C T intron_variant BRCA-EU 12 131054613 131054613 single base substitution A G intron_variant BRCA-EU 12 131055164 131055164 single base substitution C T intron_variant BRCA-EU 12 131056790 131056790 single base substitution C T intron_variant BRCA-EU 12 131056919 131056919 deletion of <=200bp A - intron_variant BRCA-EU 12 131058615 131058615 single base substitution G A intron_variant BRCA-EU 12 131060355 131060355 single base substitution C G intron_variant BRCA-EU 12 131060742 131060742 single base substitution G A intron_variant BRCA-EU 12 131061017 131061017 single base substitution G A intron_variant BRCA-EU 12 131062343 131062343 single base substitution G A intron_variant BRCA-EU 12 131062800 131062800 single base substitution C T intron_variant BRCA-EU 12 131063614 131063614 single base substitution G A intron_variant BRCA-EU 12 131063616 131063616 deletion of <=200bp G - intron_variant BRCA-EU 12 131064212 131064212 single base substitution T G intron_variant BRCA-EU 12 131065466 131065466 single base substitution G A intron_variant BRCA-EU 12 131066014 131066014 single base substitution C G intron_variant BRCA-EU 12 131066732 131066732 single base substitution C G intron_variant BRCA-EU 12 131067009 131067009 single base substitution C A intron_variant BRCA-EU 12 131067398 131067398 single base substitution C G intron_variant BRCA-EU 12 131069517 131069517 single base substitution C T intron_variant BRCA-EU 12 131069557 131069557 single base substitution G A intron_variant BRCA-EU 12 131069596 131069596 deletion of <=200bp T - intron_variant BRCA-EU 12 131069663 131069663 single base substitution G C intron_variant BRCA-EU 12 131069899 131069899 single base substitution C T intron_variant BRCA-EU 12 131069904 131069904 single base substitution G C intron_variant BRCA-EU 12 131070754 131070754 single base substitution G T intron_variant BRCA-EU 12 131073199 131073199 single base substitution C T intron_variant BRCA-EU 12 131073639 131073639 single base substitution C T intron_variant BRCA-EU 12 131074102 131074102 single base substitution G A intron_variant BRCA-EU 12 131074266 131074266 single base substitution T C intron_variant BRCA-EU 12 131074774 131074774 single base substitution A G intron_variant BRCA-EU 12 131074797 131074797 single base substitution G A intron_variant BRCA-EU 12 131075087 131075087 single base substitution C G intron_variant BRCA-EU 12 131075301 131075301 single base substitution A C intron_variant BRCA-EU 12 131075676 131075676 single base substitution C G intron_variant BRCA-EU 12 131076130 131076130 deletion of <=200bp G - intron_variant BRCA-EU 12 131076693 131076693 single base substitution T A intron_variant BRCA-EU 12 131077189 131077189 single base substitution G A intron_variant BRCA-EU 12 131077923 131077923 single base substitution C A intron_variant BRCA-EU 12 131078028 131078028 single base substitution G C intron_variant BRCA-EU 12 131078227 131078227 single base substitution C T intron_variant BRCA-EU 12 131078269 131078269 single base substitution C G intron_variant BRCA-EU 12 131078340 131078340 single base substitution C T intron_variant BRCA-EU 12 131078408 131078408 single base substitution C A intron_variant BRCA-EU 12 131078647 131078647 single base substitution G C intron_variant BRCA-EU 12 131079933 131079933 single base substitution C A intron_variant BRCA-EU 12 131081713 131081713 insertion of <=200bp - A intron_variant BRCA-EU 12 131082371 131082371 single base substitution A G intron_variant BRCA-EU 12 131083271 131083271 single base substitution T A intron_variant BRCA-EU 12 131083846 131083846 single base substitution G C intron_variant BRCA-EU 12 131083943 131083943 single base substitution G C intron_variant BRCA-EU 12 131086278 131086278 single base substitution A G intron_variant BRCA-EU 12 131087569 131087569 single base substitution G A intron_variant BRCA-EU 12 131088373 131088373 single base substitution T C intron_variant BRCA-EU 12 131089661 131089661 single base substitution G A intron_variant BRCA-EU 12 131090416 131090416 single base substitution C A intron_variant BRCA-EU 12 131090635 131090635 single base substitution A T intron_variant BRCA-EU 12 131091048 131091048 insertion of <=200bp - G intron_variant BRCA-EU 12 131092186 131092186 single base substitution A T intron_variant BRCA-EU 12 131092622 131092622 single base substitution C T intron_variant BRCA-EU 12 131093039 131093039 single base substitution C G intron_variant BRCA-EU 12 131093088 131093088 single base substitution C A intron_variant BRCA-EU 12 131093305 131093305 single base substitution G A intron_variant BRCA-EU 12 131093808 131093808 single base substitution C T intron_variant BRCA-EU 12 131094988 131094988 single base substitution C A intron_variant BRCA-EU 12 131095715 131095715 single base substitution C T intron_variant BRCA-EU 12 131095881 131095881 single base substitution C T intron_variant BRCA-EU 12 131096005 131096005 single base substitution C A intron_variant BRCA-EU 12 131096812 131096812 single base substitution T C intron_variant BRCA-EU 12 131096839 131096839 single base substitution G C intron_variant BRCA-EU 12 131097264 131097264 single base substitution T C intron_variant BRCA-EU 12 131097289 131097291 deletion of <=200bp CAT - intron_variant BRCA-EU 12 131097653 131097653 single base substitution G T intron_variant BRCA-EU 12 131097821 131097821 single base substitution G T intron_variant BRCA-EU 12 131100429 131100429 single base substitution G T intron_variant BRCA-EU 12 131100796 131100796 single base substitution G A intron_variant BRCA-EU 12 131100869 131100869 single base substitution C G intron_variant BRCA-EU 12 131101227 131101227 single base substitution C A intron_variant BRCA-EU 12 131101511 131101511 single base substitution G A intron_variant BRCA-EU 12 131102216 131102216 single base substitution G A intron_variant BRCA-EU 12 131102790 131102790 single base substitution C T intron_variant BRCA-EU 12 131103645 131103645 single base substitution G A intron_variant BRCA-EU 12 131103994 131103994 single base substitution C T intron_variant BRCA-EU 12 131104529 131104529 single base substitution G A intron_variant BRCA-EU 12 131104561 131104561 single base substitution G T intron_variant BRCA-EU 12 131104617 131104617 single base substitution G A intron_variant BRCA-EU 12 131106074 131106074 single base substitution G C intron_variant BRCA-EU 12 131106268 131106268 single base substitution A T intron_variant BRCA-EU 12 131106758 131106758 single base substitution G A intron_variant BRCA-EU 12 131106762 131106762 single base substitution G C intron_variant BRCA-EU 12 131106768 131106768 single base substitution G A intron_variant BRCA-EU 12 131107110 131107110 single base substitution C T intron_variant BRCA-EU 12 131108239 131108239 single base substitution G T intron_variant BRCA-EU 12 131108294 131108294 single base substitution A T intron_variant BRCA-EU 12 131108718 131108718 single base substitution G A intron_variant BRCA-EU 12 131108748 131108748 deletion of <=200bp A - intron_variant BRCA-EU 12 131108752 131108752 single base substitution A T intron_variant BRCA-EU 12 131109280 131109280 single base substitution G T intron_variant BRCA-EU 12 131110389 131110389 single base substitution G T intron_variant BRCA-EU 12 131111856 131111856 single base substitution C G intron_variant BRCA-EU 12 131115413 131115413 single base substitution T C intron_variant BRCA-EU 12 131117197 131117197 single base substitution C G intron_variant BRCA-EU 12 131118513 131118513 single base substitution G C intron_variant BRCA-EU 12 131118893 131118893 single base substitution G C intron_variant BRCA-EU 12 131119310 131119310 single base substitution A T intron_variant BRCA-EU 12 131119532 131119532 deletion of <=200bp A - intron_variant BRCA-EU 12 131119921 131119921 single base substitution G T intron_variant BRCA-EU 12 131120064 131120064 single base substitution T A intron_variant BRCA-EU 12 131120151 131120151 single base substitution G A intron_variant BRCA-EU 12 131121221 131121221 single base substitution G A intron_variant BRCA-EU 12 131121454 131121454 single base substitution A T intron_variant BRCA-EU 12 131122185 131122185 single base substitution C T intron_variant BRCA-EU 12 131122922 131122922 single base substitution G T intron_variant BRCA-EU 12 131125142 131125142 single base substitution G A intron_variant BRCA-EU 12 131126679 131126679 single base substitution G T intron_variant BRCA-EU 12 131126987 131126987 single base substitution G A intron_variant BRCA-EU 12 131127217 131127217 single base substitution C A intron_variant BRCA-EU 12 131128617 131128617 single base substitution C A intron_variant BRCA-EU 12 131129049 131129049 single base substitution A T intron_variant BRCA-EU 12 131130180 131130180 single base substitution G A intron_variant BRCA-EU 12 131130455 131130455 single base substitution T G intron_variant BRCA-EU 12 131130561 131130561 single base substitution G C intron_variant BRCA-EU 12 131131123 131131123 single base substitution G T intron_variant BRCA-EU 12 131131913 131131913 single base substitution C T intron_variant BRCA-EU 12 131132087 131132087 single base substitution G A intron_variant BRCA-EU 12 131132630 131132630 single base substitution C T intron_variant BRCA-EU 12 131133219 131133219 single base substitution G A intron_variant BRCA-EU 12 131133320 131133320 single base substitution G A intron_variant BRCA-EU 12 131134123 131134123 single base substitution C T intron_variant BRCA-EU 12 131135029 131135029 single base substitution G C intron_variant BRCA-EU 12 131135200 131135200 single base substitution G T intron_variant BRCA-EU 12 131135310 131135310 single base substitution G T intron_variant BRCA-EU 12 131135428 131135428 single base substitution G A intron_variant BRCA-EU 12 131135595 131135595 single base substitution G A intron_variant BRCA-EU 12 131135753 131135753 single base substitution A G intron_variant BRCA-EU 12 131136275 131136275 single base substitution C T intron_variant BRCA-EU 12 131136452 131136452 single base substitution T A intron_variant BRCA-EU 12 131137033 131137033 single base substitution C T intron_variant BRCA-EU 12 131138685 131138685 single base substitution C A intron_variant BRCA-EU 12 131139753 131139753 single base substitution G T intron_variant BRCA-EU 12 131139979 131139979 single base substitution G A intron_variant BRCA-EU 12 131140812 131140812 single base substitution C A intron_variant BRCA-EU 12 131141102 131141102 single base substitution G C intron_variant BRCA-EU 12 131141509 131141509 single base substitution C A intron_variant BRCA-EU 12 131141765 131141765 single base substitution T A intron_variant BRCA-EU 12 131141818 131141818 single base substitution C T intron_variant BRCA-EU 12 131141863 131141863 single base substitution G T intron_variant BRCA-EU 12 131142040 131142040 single base substitution A G intron_variant BRCA-EU 12 131142121 131142121 single base substitution C T intron_variant BRCA-EU 12 131142285 131142285 single base substitution G T intron_variant BRCA-EU 12 131142694 131142694 single base substitution T A intron_variant BRCA-EU 12 131145564 131145564 single base substitution G C intron_variant BRCA-EU 12 131145792 131145792 single base substitution G T intron_variant BRCA-EU 12 131145981 131145981 single base substitution A T intron_variant BRCA-EU 12 131146031 131146031 single base substitution G C intron_variant BRCA-EU 12 131146051 131146051 single base substitution G A intron_variant BRCA-EU 12 131146069 131146069 single base substitution A T intron_variant BRCA-EU 12 131146566 131146566 single base substitution G C intron_variant BRCA-EU 12 131146612 131146612 single base substitution G A intron_variant BRCA-EU 12 131147067 131147067 single base substitution G T intron_variant BRCA-EU 12 131147208 131147208 single base substitution A T intron_variant BRCA-EU 12 131147925 131147925 single base substitution G C intron_variant BRCA-EU 12 131147994 131147994 deletion of <=200bp T - intron_variant BRCA-EU 12 131148372 131148372 single base substitution G A intron_variant BRCA-EU 12 131150086 131150086 single base substitution G A intron_variant BRCA-EU 12 131150778 131150778 single base substitution C T intron_variant BRCA-EU 12 131150916 131150916 single base substitution G A intron_variant BRCA-EU 12 131151110 131151110 single base substitution T G intron_variant BRCA-EU 12 131152419 131152419 single base substitution G A intron_variant BRCA-EU 12 131154094 131154094 single base substitution T C intron_variant BRCA-EU 12 131154462 131154462 single base substitution C T intron_variant BRCA-EU 12 131156241 131156241 single base substitution C T intron_variant BRCA-EU 12 131156254 131156254 single base substitution C T intron_variant BRCA-EU 12 131156510 131156510 single base substitution G T intron_variant BRCA-EU 12 131156648 131156648 single base substitution G A intron_variant BRCA-EU 12 131157149 131157149 single base substitution A G intron_variant BRCA-EU 12 131157916 131157916 single base substitution C T intron_variant BRCA-EU 12 131158906 131158906 single base substitution C T intron_variant BRCA-EU 12 131158931 131158931 single base substitution G C intron_variant BRCA-EU 12 131159390 131159390 single base substitution T A intron_variant BRCA-EU 12 131159681 131159681 single base substitution C T intron_variant BRCA-EU 12 131159723 131159723 single base substitution C T intron_variant BRCA-EU 12 131159931 131159931 single base substitution C G intron_variant BRCA-EU 12 131160184 131160184 single base substitution C G intron_variant BRCA-EU 12 131160659 131160659 single base substitution G A intron_variant BRCA-EU 12 131161043 131161043 single base substitution C A intron_variant BRCA-EU 12 131163711 131163711 single base substitution C T intron_variant BRCA-EU 12 131165889 131165889 single base substitution C T intron_variant BRCA-EU 12 131166472 131166472 single base substitution C A intron_variant BRCA-EU 12 131166488 131166488 single base substitution C T intron_variant BRCA-EU 12 131166875 131166875 single base substitution G T intron_variant BRCA-EU 12 131166926 131166926 single base substitution G A intron_variant BRCA-EU 12 131167094 131167094 single base substitution G T intron_variant BRCA-EU 12 131167646 131167646 single base substitution C A intron_variant BRCA-EU 12 131169054 131169054 single base substitution A T intron_variant BRCA-EU 12 131169196 131169196 single base substitution G C intron_variant BRCA-EU 12 131170074 131170074 single base substitution C G intron_variant BRCA-EU 12 131170660 131170660 single base substitution A G intron_variant BRCA-EU 12 131170775 131170775 single base substitution G C intron_variant BRCA-EU 12 131170960 131170960 single base substitution G A intron_variant BRCA-EU 12 131171414 131171414 single base substitution C T intron_variant BRCA-EU 12 131172328 131172328 single base substitution G C intron_variant BRCA-EU 12 131172490 131172490 single base substitution C T intron_variant BRCA-EU 12 131172787 131172787 single base substitution A G intron_variant BRCA-EU 12 131172815 131172815 single base substitution C T intron_variant BRCA-EU 12 131172918 131172918 single base substitution A T intron_variant BRCA-EU 12 131172941 131172941 single base substitution G T intron_variant BRCA-EU 12 131173308 131173308 single base substitution C T intron_variant BRCA-EU 12 131173343 131173343 single base substitution C G intron_variant BRCA-EU 12 131173383 131173383 single base substitution C G intron_variant BRCA-EU 12 131173704 131173704 single base substitution G A intron_variant BRCA-EU 12 131174764 131174764 single base substitution C T intron_variant BRCA-EU 12 131174965 131174965 single base substitution C T intron_variant BRCA-EU 12 131175260 131175260 single base substitution G C intron_variant BRCA-EU 12 131176220 131176220 single base substitution C T intron_variant BRCA-EU 12 131176796 131176796 single base substitution G C intron_variant BRCA-EU 12 131178081 131178081 single base substitution A G intron_variant BRCA-EU 12 131178342 131178342 single base substitution C T intron_variant BRCA-EU 12 131178439 131178439 single base substitution C A intron_variant BRCA-EU 12 131178755 131178755 single base substitution A T intron_variant BRCA-EU 12 131178918 131178918 single base substitution T A intron_variant BRCA-EU 12 131179124 131179124 single base substitution T A intron_variant BRCA-EU 12 131179438 131179438 single base substitution C A intron_variant BRCA-EU 12 131180066 131180066 single base substitution C T intron_variant BRCA-EU 12 131180261 131180261 single base substitution A C intron_variant BRCA-EU 12 131180874 131180874 single base substitution G A intron_variant BRCA-EU 12 131182111 131182111 single base substitution C A intron_variant BRCA-EU 12 131182728 131182728 single base substitution C G intron_variant BRCA-EU 12 131182821 131182821 single base substitution G A intron_variant BRCA-EU 12 131183981 131183981 single base substitution G A intron_variant BRCA-EU 12 131185674 131185674 single base substitution T A intron_variant BRCA-EU 12 131187783 131187783 single base substitution G A intron_variant BRCA-EU 12 131188195 131188195 single base substitution C T intron_variant BRCA-EU 12 131189162 131189162 single base substitution G T intron_variant BRCA-EU 12 131190457 131190457 single base substitution G A intron_variant BRCA-EU 12 131190545 131190545 single base substitution T A intron_variant BRCA-EU 12 131190678 131190678 single base substitution G A intron_variant BRCA-EU 12 131190752 131190752 single base substitution T G intron_variant BRCA-EU 12 131190860 131190860 single base substitution G A intron_variant BRCA-EU 12 131191029 131191029 single base substitution G A intron_variant BRCA-EU 12 131191034 131191034 single base substitution G C intron_variant BRCA-EU 12 131191398 131191398 single base substitution G T intron_variant BRCA-EU 12 131192127 131192127 single base substitution C T intron_variant BRCA-EU 12 131192877 131192877 single base substitution G T intron_variant BRCA-EU 12 131193637 131193637 single base substitution C T intron_variant BRCA-EU 12 131194720 131194720 single base substitution C T intron_variant BRCA-EU 12 131194849 131194849 single base substitution C G intron_variant BRCA-EU 12 131195607 131195607 single base substitution G A intron_variant BRCA-EU 12 131195661 131195661 single base substitution G A intron_variant BRCA-EU 12 131195829 131195829 single base substitution G T intron_variant BRCA-EU 12 131196346 131196346 single base substitution G T intron_variant BRCA-EU 12 131196984 131196984 single base substitution A G intron_variant BRCA-EU 12 131197329 131197329 single base substitution A G intron_variant BRCA-EU 12 131197558 131197558 single base substitution G A intron_variant BRCA-EU 12 131197660 131197660 single base substitution A G intron_variant BRCA-EU 12 131200248 131200248 single base substitution A T intron_variant BRCA-EU 12 131200762 131200762 single base substitution C T intron_variant BRCA-EU 12 131201827 131201827 single base substitution G T upstream_gene_variant BRCA-EU 12 131202734 131202734 single base substitution G A upstream_gene_variant BRCA-EU 12 131202851 131202851 single base substitution C T upstream_gene_variant BRCA-EU 12 131203863 131203863 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 131204201 131204201 single base substitution G A upstream_gene_variant BRCA-EU 12 131204231 131204231 single base substitution C T upstream_gene_variant BRCA-EU 12 131205174 131205174 single base substitution C T upstream_gene_variant BRCA-EU 12 131205224 131205224 single base substitution A T upstream_gene_variant BRCA-EU 12 131205407 131205407 single base substitution G A upstream_gene_variant BRCA-EU 12 131205414 131205414 single base substitution T C upstream_gene_variant BRCA-EU 12 131205512 131205512 single base substitution G C upstream_gene_variant BRCA-EU 12 131205712 131205712 single base substitution G C upstream_gene_variant BRCA-FR 12 130878543 130878543 single base substitution C T downstream_gene_variant BRCA-FR 12 130880152 130880152 single base substitution T A downstream_gene_variant BRCA-FR 12 130881088 130881088 single base substitution G A 3_prime_UTR_variant BRCA-FR 12 130881088 130881088 single base substitution G A downstream_gene_variant BRCA-FR 12 130881634 130881634 single base substitution G T 3_prime_UTR_variant BRCA-FR 12 130881634 130881634 single base substitution G T downstream_gene_variant BRCA-FR 12 130883916 130883916 single base substitution G C downstream_gene_variant BRCA-FR 12 130883916 130883916 single base substitution G C intron_variant BRCA-FR 12 130885915 130885915 single base substitution C A intron_variant BRCA-FR 12 130887430 130887430 single base substitution T C intron_variant BRCA-FR 12 130887564 130887564 single base substitution C A intron_variant BRCA-FR 12 130890610 130890610 single base substitution C T intron_variant BRCA-FR 12 130892642 130892642 single base substitution C T intron_variant BRCA-FR 12 130892642 130892642 single base substitution C T upstream_gene_variant BRCA-FR 12 130896516 130896516 single base substitution C T intron_variant BRCA-FR 12 130896516 130896516 single base substitution C T upstream_gene_variant BRCA-FR 12 130901274 130901274 single base substitution T C intron_variant BRCA-FR 12 130901274 130901274 single base substitution T C upstream_gene_variant BRCA-FR 12 130905776 130905776 single base substitution C T intron_variant BRCA-FR 12 130905777 130905777 single base substitution G A intron_variant BRCA-FR 12 130908950 130908950 single base substitution G T intron_variant BRCA-FR 12 130912973 130912973 single base substitution C T downstream_gene_variant BRCA-FR 12 130912973 130912973 single base substitution C T intron_variant BRCA-FR 12 130914003 130914003 single base substitution T C downstream_gene_variant BRCA-FR 12 130914003 130914003 single base substitution T C intron_variant BRCA-FR 12 130914589 130914589 single base substitution C T downstream_gene_variant BRCA-FR 12 130914589 130914589 single base substitution C T intron_variant BRCA-FR 12 130917281 130917281 single base substitution C T intron_variant BRCA-FR 12 130926198 130926198 single base substitution C G intron_variant BRCA-FR 12 130927168 130927168 single base substitution G T synonymous_variant S134S 402C>A BRCA-FR 12 130927168 130927168 single base substitution G T synonymous_variant S226S 678C>A BRCA-FR 12 130927169 130927169 single base substitution G T missense_variant S134Y 401C>A BRCA-FR 12 130927169 130927169 single base substitution G T missense_variant S226Y 677C>A BRCA-FR 12 130927498 130927498 single base substitution G A intron_variant BRCA-FR 12 130930305 130930305 single base substitution G C intron_variant BRCA-FR 12 130931939 130931939 single base substitution C T intron_variant BRCA-FR 12 130933736 130933736 single base substitution G A intron_variant BRCA-FR 12 130936861 130936861 single base substitution G A intron_variant BRCA-FR 12 130940688 130940688 single base substitution G A intron_variant BRCA-FR 12 130943293 130943293 single base substitution G C intron_variant BRCA-FR 12 130950946 130950946 single base substitution A G downstream_gene_variant BRCA-FR 12 130950946 130950946 single base substitution A G intron_variant BRCA-FR 12 130953156 130953156 single base substitution G A downstream_gene_variant BRCA-FR 12 130953156 130953156 single base substitution G A intron_variant BRCA-FR 12 130955333 130955333 single base substitution G A intron_variant BRCA-FR 12 130965361 130965361 single base substitution G C intron_variant BRCA-FR 12 130965519 130965519 single base substitution A G intron_variant BRCA-FR 12 130970787 130970787 single base substitution C T intron_variant BRCA-FR 12 130975344 130975344 single base substitution C T intron_variant BRCA-FR 12 130975566 130975566 single base substitution A G intron_variant BRCA-FR 12 130981657 130981657 single base substitution C G intron_variant BRCA-FR 12 130982834 130982834 single base substitution G A intron_variant BRCA-FR 12 130988621 130988621 single base substitution T C intron_variant BRCA-FR 12 130989551 130989551 single base substitution C G intron_variant BRCA-FR 12 130998490 130998490 single base substitution G A intron_variant BRCA-FR 12 130998727 130998727 single base substitution C G intron_variant BRCA-FR 12 131000388 131000388 single base substitution G A intron_variant BRCA-FR 12 131000537 131000537 single base substitution G A intron_variant BRCA-FR 12 131009520 131009520 single base substitution G A intron_variant BRCA-FR 12 131010271 131010271 single base substitution G A intron_variant BRCA-FR 12 131013547 131013547 single base substitution G T intron_variant BRCA-FR 12 131015078 131015078 single base substitution C A intron_variant BRCA-FR 12 131020377 131020377 single base substitution G A intron_variant BRCA-FR 12 131021148 131021148 single base substitution A T intron_variant BRCA-FR 12 131024838 131024838 single base substitution G A intron_variant BRCA-FR 12 131029437 131029437 single base substitution G C intron_variant BRCA-FR 12 131030880 131030880 single base substitution G T intron_variant BRCA-FR 12 131033211 131033211 single base substitution C T intron_variant BRCA-FR 12 131039952 131039952 single base substitution G A intron_variant BRCA-FR 12 131041703 131041703 single base substitution G A intron_variant BRCA-FR 12 131042000 131042000 single base substitution G A intron_variant BRCA-FR 12 131047976 131047976 single base substitution C A intron_variant BRCA-FR 12 131050766 131050766 single base substitution C G intron_variant BRCA-FR 12 131052313 131052313 single base substitution C T intron_variant BRCA-FR 12 131054153 131054153 single base substitution C T intron_variant BRCA-FR 12 131055164 131055164 single base substitution C T intron_variant BRCA-FR 12 131057212 131057212 single base substitution G A intron_variant BRCA-FR 12 131057540 131057540 single base substitution G A intron_variant BRCA-FR 12 131060355 131060355 single base substitution C G intron_variant BRCA-FR 12 131064212 131064212 single base substitution T G intron_variant BRCA-FR 12 131086278 131086278 single base substitution A G intron_variant BRCA-FR 12 131087473 131087473 single base substitution C A intron_variant BRCA-FR 12 131095715 131095715 single base substitution C T intron_variant BRCA-FR 12 131100429 131100429 single base substitution G T intron_variant BRCA-FR 12 131106268 131106268 single base substitution A T intron_variant BRCA-FR 12 131114749 131114749 single base substitution C T intron_variant BRCA-FR 12 131115411 131115411 single base substitution C A intron_variant BRCA-FR 12 131117197 131117197 single base substitution C G intron_variant BRCA-FR 12 131121221 131121221 single base substitution G A intron_variant BRCA-FR 12 131126718 131126718 single base substitution G T intron_variant BRCA-FR 12 131133219 131133219 single base substitution G A intron_variant BRCA-FR 12 131135029 131135029 single base substitution G C intron_variant BRCA-FR 12 131135310 131135310 single base substitution G T intron_variant BRCA-FR 12 131141102 131141102 single base substitution G C intron_variant BRCA-FR 12 131141894 131141894 single base substitution G A intron_variant BRCA-FR 12 131142121 131142121 single base substitution C T intron_variant BRCA-FR 12 131147925 131147925 single base substitution G C intron_variant BRCA-FR 12 131150916 131150916 single base substitution G A intron_variant BRCA-FR 12 131158931 131158931 single base substitution G C intron_variant BRCA-FR 12 131159047 131159047 single base substitution C A intron_variant BRCA-FR 12 131159723 131159723 single base substitution C T intron_variant BRCA-FR 12 131169196 131169196 single base substitution G C intron_variant BRCA-FR 12 131170775 131170775 single base substitution G C intron_variant BRCA-FR 12 131171414 131171414 single base substitution C T intron_variant BRCA-FR 12 131172328 131172328 single base substitution G C intron_variant BRCA-FR 12 131172490 131172490 single base substitution C T intron_variant BRCA-FR 12 131173479 131173479 single base substitution G A intron_variant BRCA-FR 12 131179438 131179438 single base substitution C A intron_variant BRCA-FR 12 131190457 131190457 single base substitution G A intron_variant BRCA-FR 12 131191459 131191459 single base substitution C T intron_variant BRCA-FR 12 131196346 131196346 single base substitution G T intron_variant BRCA-FR 12 131198575 131198575 single base substitution T C intron_variant BRCA-UK 12 130877152 130877152 single base substitution C T downstream_gene_variant BRCA-UK 12 130877208 130877208 single base substitution C G downstream_gene_variant BRCA-UK 12 130877643 130877643 single base substitution G A downstream_gene_variant BRCA-UK 12 130884224 130884224 single base substitution C G downstream_gene_variant BRCA-UK 12 130884224 130884224 single base substitution C G missense_variant R1044S 3132G>C BRCA-UK 12 130884224 130884224 single base substitution C G splice_region_variant BRCA-UK 12 130889618 130889618 single base substitution G A intron_variant BRCA-UK 12 130895170 130895170 single base substitution C T intron_variant BRCA-UK 12 130895170 130895170 single base substitution C T upstream_gene_variant BRCA-UK 12 130898837 130898837 single base substitution C G 5_prime_UTR_variant BRCA-UK 12 130898837 130898837 single base substitution C G missense_variant D829H 2485G>C BRCA-UK 12 130904888 130904888 single base substitution C A intron_variant BRCA-UK 12 130910383 130910383 single base substitution C G intron_variant BRCA-UK 12 130920462 130920462 single base substitution G A intron_variant BRCA-UK 12 130935797 130935797 single base substitution G A synonymous_variant S132S 396C>T BRCA-UK 12 130935797 130935797 single base substitution G A synonymous_variant S40S 120C>T BRCA-UK 12 130948828 130948828 single base substitution T G intron_variant BRCA-UK 12 130964325 130964325 single base substitution G C intron_variant BRCA-UK 12 130967741 130967741 single base substitution A C intron_variant BRCA-UK 12 130975913 130975913 single base substitution C G intron_variant BRCA-UK 12 130994681 130994681 single base substitution T A intron_variant BRCA-UK 12 130994681 130994681 single base substitution T A upstream_gene_variant BRCA-UK 12 131014732 131014732 single base substitution C A intron_variant BRCA-UK 12 131015103 131015103 single base substitution G C intron_variant BRCA-UK 12 131017050 131017050 single base substitution T G intron_variant BRCA-UK 12 131020969 131020969 single base substitution C A intron_variant BRCA-UK 12 131036695 131036695 single base substitution A G intron_variant BRCA-UK 12 131064272 131064272 single base substitution C T intron_variant BRCA-UK 12 131067398 131067398 single base substitution C G intron_variant BRCA-UK 12 131074774 131074774 single base substitution A G intron_variant BRCA-UK 12 131078408 131078408 single base substitution C A intron_variant BRCA-UK 12 131137033 131137033 single base substitution C T intron_variant BRCA-UK 12 131138928 131138928 single base substitution C G intron_variant BRCA-UK 12 131143711 131143711 single base substitution C G intron_variant BRCA-UK 12 131146566 131146566 single base substitution G C intron_variant BRCA-UK 12 131154551 131154551 single base substitution G A intron_variant BRCA-UK 12 131197577 131197577 single base substitution A G intron_variant BRCA-US 12 130884256 130884256 single base substitution G C 3_prime_UTR_variant BRCA-US 12 130884256 130884256 single base substitution G C downstream_gene_variant BRCA-US 12 130884256 130884256 single base substitution G C missense_variant Q1034E 3100C>G BRCA-US 12 130884319 130884319 single base substitution A C 3_prime_UTR_variant BRCA-US 12 130884319 130884319 single base substitution A C missense_variant F1013V 3037T>G BRCA-US 12 130884319 130884319 single base substitution A C missense_variant F150V 448T>G BRCA-US 12 130892283 130892283 single base substitution G A exon_variant BRCA-US 12 130892283 130892283 single base substitution G A synonymous_variant N108N 324C>T BRCA-US 12 130892283 130892283 single base substitution G A synonymous_variant N971N 2913C>T BRCA-US 12 130898669 130898669 single base substitution C A splice_donor_variant BRCA-US 12 130907060 130907060 single base substitution C T missense_variant R803Q 2408G>A BRCA-US 12 130912757 130912757 single base substitution C A downstream_gene_variant BRCA-US 12 130912757 130912757 single base substitution C A missense_variant R776S 2328G>T BRCA-US 12 130921495 130921495 single base substitution C A synonymous_variant S557S 1671G>T BRCA-US 12 130921495 130921495 single base substitution C A synonymous_variant S649S 1947G>T BRCA-US 12 130926616 130926616 single base substitution G T synonymous_variant S318S 954C>A BRCA-US 12 130926616 130926616 single base substitution G T synonymous_variant S410S 1230C>A BRCA-US 12 130926628 130926628 single base substitution G A synonymous_variant S314S 942C>T BRCA-US 12 130926628 130926628 single base substitution G A synonymous_variant S406S 1218C>T BRCA-US 12 130926638 130926638 single base substitution G A missense_variant T311M 932C>T BRCA-US 12 130926638 130926638 single base substitution G A missense_variant T403M 1208C>T BRCA-US 12 130927134 130927134 single base substitution G A missense_variant R146W 436C>T BRCA-US 12 130927134 130927134 single base substitution G A missense_variant R238W 712C>T BRCA-US 12 130927141 130927141 single base substitution G A synonymous_variant N143N 429C>T BRCA-US 12 130927141 130927141 single base substitution G A synonymous_variant N235N 705C>T BRCA-US 12 130927144 130927144 single base substitution G T missense_variant D142E 426C>A BRCA-US 12 130927144 130927144 single base substitution G T missense_variant D234E 702C>A BRCA-US 12 130935809 130935809 single base substitution C T synonymous_variant P128P 384G>A BRCA-US 12 130935809 130935809 single base substitution C T synonymous_variant P36P 108G>A BRCA-US 12 130935822 130935822 single base substitution G T missense_variant P124H 371C>A BRCA-US 12 130935822 130935822 single base substitution G T missense_variant P32H 95C>A BRCA-US 12 130941040 130941040 single base substitution C G splice_donor_variant BTCA-JP 12 130883750 130883750 single base substitution A T downstream_gene_variant BTCA-JP 12 130883750 130883750 single base substitution A T intron_variant BTCA-JP 12 130884328 130884328 single base substitution G A 3_prime_UTR_variant BTCA-JP 12 130884328 130884328 single base substitution G A missense_variant P1010S 3028C>T BTCA-JP 12 130884328 130884328 single base substitution G A missense_variant P147S 439C>T BTCA-JP 12 130898734 130898734 single base substitution G T 5_prime_UTR_variant BTCA-JP 12 130898734 130898734 single base substitution G T missense_variant T863N 2588C>A BTCA-JP 12 130912836 130912836 single base substitution C G downstream_gene_variant BTCA-JP 12 130912836 130912836 single base substitution C G missense_variant G750A 2249G>C BTCA-JP 12 130912862 130912862 single base substitution G A downstream_gene_variant BTCA-JP 12 130912862 130912862 single base substitution G A synonymous_variant D741D 2223C>T BTCA-JP 12 130912985 130912985 single base substitution G A downstream_gene_variant BTCA-JP 12 130912985 130912985 single base substitution G A intron_variant BTCA-JP 12 130916757 130916757 single base substitution C T 3_prime_UTR_variant BTCA-JP 12 130916757 130916757 single base substitution C T intron_variant BTCA-JP 12 130921701 130921701 single base substitution C T missense_variant V489I 1465G>A BTCA-JP 12 130921701 130921701 single base substitution C T missense_variant V581I 1741G>A BTCA-JP 12 130923089 130923089 single base substitution C G intron_variant BTCA-JP 12 130926570 130926570 single base substitution C T missense_variant E334K 1000G>A BTCA-JP 12 130926570 130926570 single base substitution C T missense_variant E426K 1276G>A BTCA-JP 12 130926637 130926637 single base substitution C T synonymous_variant T311T 933G>A BTCA-JP 12 130926637 130926637 single base substitution C T synonymous_variant T403T 1209G>A BTCA-JP 12 130941113 130941113 deletion of <=200bp G - 5_prime_UTR_variant BTCA-JP 12 130941113 130941113 deletion of <=200bp G - frameshift_variant L79 CLLE-ES 12 130887275 130887275 single base substitution G T intron_variant CLLE-ES 12 130890521 130890521 single base substitution A C intron_variant CLLE-ES 12 130897774 130897774 single base substitution G T intron_variant CLLE-ES 12 130898540 130898540 single base substitution T C intron_variant CLLE-ES 12 130919313 130919313 single base substitution T G missense_variant D631A 1892A>C CLLE-ES 12 130919313 130919313 single base substitution T G missense_variant D723A 2168A>C CLLE-ES 12 130929818 130929818 single base substitution C T splice_region_variant CLLE-ES 12 130935536 130935536 single base substitution G A intron_variant CLLE-ES 12 130941682 130941682 single base substitution G A intron_variant CLLE-ES 12 130943757 130943757 single base substitution G A intron_variant CLLE-ES 12 130946673 130946673 single base substitution T G intron_variant CLLE-ES 12 130949623 130949623 single base substitution G A intron_variant CLLE-ES 12 130956960 130956960 single base substitution G A intron_variant CLLE-ES 12 130963772 130963772 single base substitution A C intron_variant CLLE-ES 12 130964763 130964763 deletion of <=200bp C - intron_variant CLLE-ES 12 130967113 130967113 single base substitution G A intron_variant CLLE-ES 12 130968375 130968375 single base substitution G C intron_variant CLLE-ES 12 130973763 130973763 single base substitution C A intron_variant CLLE-ES 12 130976080 130976080 single base substitution G A intron_variant CLLE-ES 12 130982562 130982562 single base substitution T A intron_variant CLLE-ES 12 130994646 130994646 single base substitution C T intron_variant CLLE-ES 12 130994646 130994646 single base substitution C T upstream_gene_variant CLLE-ES 12 130995039 130995039 single base substitution A G intron_variant CLLE-ES 12 130995039 130995039 single base substitution A G upstream_gene_variant CLLE-ES 12 131010745 131010745 single base substitution G C intron_variant CLLE-ES 12 131016590 131016590 single base substitution A G intron_variant CLLE-ES 12 131027196 131027196 single base substitution C G intron_variant CLLE-ES 12 131041188 131041188 single base substitution G A intron_variant CLLE-ES 12 131056902 131056902 single base substitution C A intron_variant CLLE-ES 12 131059882 131059882 single base substitution G A intron_variant CLLE-ES 12 131060475 131060475 single base substitution G A intron_variant CLLE-ES 12 131068760 131068760 insertion of <=200bp - CACCAA intron_variant CLLE-ES 12 131070081 131070081 single base substitution C A intron_variant CLLE-ES 12 131084212 131084212 single base substitution T A intron_variant CLLE-ES 12 131085278 131085278 single base substitution A G intron_variant CLLE-ES 12 131096337 131096337 single base substitution C A intron_variant CLLE-ES 12 131103626 131103626 single base substitution G A intron_variant CLLE-ES 12 131121438 131121438 single base substitution G A intron_variant CLLE-ES 12 131127688 131127688 single base substitution C A intron_variant CLLE-ES 12 131127898 131127898 single base substitution C T intron_variant CLLE-ES 12 131133295 131133295 single base substitution G A intron_variant CLLE-ES 12 131142948 131142948 single base substitution G A intron_variant CLLE-ES 12 131155773 131155773 single base substitution A C intron_variant CLLE-ES 12 131162298 131162298 single base substitution T C intron_variant CLLE-ES 12 131171486 131171486 single base substitution G A intron_variant CLLE-ES 12 131171863 131171863 single base substitution T A intron_variant CLLE-ES 12 131189959 131189959 single base substitution G A intron_variant CLLE-ES 12 131190247 131190247 single base substitution C A intron_variant CLLE-ES 12 131193924 131193924 single base substitution C A intron_variant COAD-US 12 130890782 130890782 single base substitution G T exon_variant COAD-US 12 130890782 130890782 single base substitution G T missense_variant L115I 343C>A COAD-US 12 130890782 130890782 single base substitution G T missense_variant L978I 2932C>A COAD-US 12 130892329 130892329 single base substitution C A exon_variant COAD-US 12 130892329 130892329 single base substitution C A missense_variant R93I 278G>T COAD-US 12 130892329 130892329 single base substitution C A missense_variant R956I 2867G>T COAD-US 12 130898840 130898840 single base substitution G A 5_prime_UTR_variant COAD-US 12 130898840 130898840 single base substitution G A stop_gained R828* 2482C>T COAD-US 12 130919420 130919420 single base substitution C G missense_variant E595D 1785G>C COAD-US 12 130919420 130919420 single base substitution C G missense_variant E687D 2061G>C COAD-US 12 130921471 130921471 single base substitution T C synonymous_variant P565P 1695A>G COAD-US 12 130921471 130921471 single base substitution T C synonymous_variant P657P 1971A>G COAD-US 12 130921512 130921512 single base substitution C T missense_variant G552S 1654G>A COAD-US 12 130921512 130921512 single base substitution C T missense_variant G644S 1930G>A COAD-US 12 130922973 130922973 single base substitution C T synonymous_variant T422T 1266G>A COAD-US 12 130922973 130922973 single base substitution C T synonymous_variant T514T 1542G>A COAD-US 12 130923011 130923011 single base substitution C T missense_variant A410T 1228G>A COAD-US 12 130923011 130923011 single base substitution C T missense_variant A502T 1504G>A COAD-US 12 130926519 130926519 single base substitution T G missense_variant N351H 1051A>C COAD-US 12 130926519 130926519 single base substitution T G missense_variant N443H 1327A>C COAD-US 12 130926673 130926673 single base substitution C T synonymous_variant V299V 897G>A COAD-US 12 130926673 130926673 single base substitution C T synonymous_variant V391V 1173G>A COAD-US 12 130926863 130926863 single base substitution G A missense_variant T236M 707C>T COAD-US 12 130926863 130926863 single base substitution G A missense_variant T328M 983C>T COAD-US 12 130926999 130926999 single base substitution C T missense_variant G191R 571G>A COAD-US 12 130926999 130926999 single base substitution C T missense_variant G283R 847G>A COAD-US 12 130929761 130929761 single base substitution G A missense_variant T103M 308C>T COAD-US 12 130929761 130929761 single base substitution G A missense_variant T195M 584C>T COAD-US 12 130935763 130935763 single base substitution C T missense_variant A144T 430G>A COAD-US 12 130935763 130935763 single base substitution C T missense_variant A52T 154G>A COAD-US 12 130941150 130941150 single base substitution G C 5_prime_UTR_variant COAD-US 12 130941150 130941150 single base substitution G C synonymous_variant G66G 198C>G COCA-CN 12 130876491 130876491 single base substitution T C downstream_gene_variant COCA-CN 12 130876662 130876662 single base substitution T G downstream_gene_variant COCA-CN 12 130876683 130876683 single base substitution G A downstream_gene_variant COCA-CN 12 130877020 130877020 single base substitution T G downstream_gene_variant COCA-CN 12 130877059 130877059 single base substitution T G downstream_gene_variant COCA-CN 12 130877072 130877072 single base substitution A G downstream_gene_variant COCA-CN 12 130877092 130877092 single base substitution A G downstream_gene_variant COCA-CN 12 130878000 130878000 single base substitution T C downstream_gene_variant COCA-CN 12 130883462 130883462 single base substitution C T 3_prime_UTR_variant COCA-CN 12 130883462 130883462 single base substitution C T downstream_gene_variant COCA-CN 12 130883462 130883462 single base substitution C T intron_variant COCA-CN 12 130883636 130883636 single base substitution C T 3_prime_UTR_variant COCA-CN 12 130883636 130883636 single base substitution C T downstream_gene_variant COCA-CN 12 130883636 130883636 single base substitution C T intron_variant COCA-CN 12 130884130 130884130 single base substitution G A downstream_gene_variant COCA-CN 12 130884130 130884130 single base substitution G A intron_variant COCA-CN 12 130884319 130884319 single base substitution A C 3_prime_UTR_variant COCA-CN 12 130884319 130884319 single base substitution A C missense_variant F1013V 3037T>G COCA-CN 12 130884319 130884319 single base substitution A C missense_variant F150V 448T>G COCA-CN 12 130892133 130892133 single base substitution C T intron_variant COCA-CN 12 130892162 130892162 single base substitution C T intron_variant COCA-CN 12 130897157 130897157 single base substitution C T splice_region_variant COCA-CN 12 130897157 130897157 single base substitution C T upstream_gene_variant COCA-CN 12 130898647 130898647 single base substitution G A intron_variant COCA-CN 12 130898833 130898833 single base substitution C T 5_prime_UTR_variant COCA-CN 12 130898833 130898833 single base substitution C T missense_variant R830H 2489G>A COCA-CN 12 130898883 130898883 single base substitution G A 5_prime_UTR_variant COCA-CN 12 130898883 130898883 single base substitution G A intron_variant COCA-CN 12 130909026 130909026 single base substitution C T intron_variant COCA-CN 12 130919387 130919387 single base substitution C T synonymous_variant A606A 1818G>A COCA-CN 12 130919387 130919387 single base substitution C T synonymous_variant A698A 2094G>A COCA-CN 12 130919390 130919390 single base substitution G A synonymous_variant S605S 1815C>T COCA-CN 12 130919390 130919390 single base substitution G A synonymous_variant S697S 2091C>T COCA-CN 12 130921301 130921301 single base substitution C T intron_variant COCA-CN 12 130921656 130921656 single base substitution C A missense_variant A504S 1510G>T COCA-CN 12 130921656 130921656 single base substitution C A missense_variant A596S 1786G>T COCA-CN 12 130921749 130921749 single base substitution G A missense_variant R473W 1417C>T COCA-CN 12 130921749 130921749 single base substitution G A missense_variant R565W 1693C>T COCA-CN 12 130921784 130921784 single base substitution C T missense_variant R461Q 1382G>A COCA-CN 12 130921784 130921784 single base substitution C T missense_variant R553Q 1658G>A COCA-CN 12 130922884 130922884 single base substitution T C intron_variant COCA-CN 12 130922945 130922945 single base substitution C T missense_variant V432I 1294G>A COCA-CN 12 130922945 130922945 single base substitution C T missense_variant V524I 1570G>A COCA-CN 12 130923011 130923011 single base substitution C T missense_variant A410T 1228G>A COCA-CN 12 130923011 130923011 single base substitution C T missense_variant A502T 1504G>A COCA-CN 12 130926571 130926571 single base substitution G A synonymous_variant N333N 999C>T COCA-CN 12 130926571 130926571 single base substitution G A synonymous_variant N425N 1275C>T COCA-CN 12 130926846 130926846 single base substitution C T missense_variant V242I 724G>A COCA-CN 12 130926846 130926846 single base substitution C T missense_variant V334I 1000G>A COCA-CN 12 130926961 130926961 single base substitution G A synonymous_variant D203D 609C>T COCA-CN 12 130926961 130926961 single base substitution G A synonymous_variant D295D 885C>T COCA-CN 12 130926978 130926978 single base substitution C T missense_variant D198N 592G>A COCA-CN 12 130926978 130926978 single base substitution C T missense_variant D290N 868G>A COCA-CN 12 130929725 130929725 single base substitution T C missense_variant D115G 344A>G COCA-CN 12 130929725 130929725 single base substitution T C missense_variant D207G 620A>G COCA-CN 12 130935719 130935719 single base substitution C G intron_variant COCA-CN 12 130935725 130935725 single base substitution C T intron_variant COCA-CN 12 130949003 130949003 single base substitution A T intron_variant COCA-CN 12 130959687 130959687 single base substitution G A intron_variant COCA-CN 12 130967598 130967598 single base substitution C T intron_variant COCA-CN 12 130979599 130979599 single base substitution C A intron_variant COCA-CN 12 130982736 130982736 single base substitution C T intron_variant COCA-CN 12 130989075 130989075 single base substitution G A intron_variant COCA-CN 12 131016780 131016780 single base substitution G A intron_variant COCA-CN 12 131016992 131016992 single base substitution G A intron_variant COCA-CN 12 131059514 131059514 single base substitution G C intron_variant COCA-CN 12 131069225 131069225 single base substitution T C intron_variant COCA-CN 12 131069228 131069228 single base substitution C T intron_variant COCA-CN 12 131069229 131069229 single base substitution A C intron_variant COCA-CN 12 131069252 131069252 single base substitution A C intron_variant COCA-CN 12 131069253 131069253 single base substitution A T intron_variant COCA-CN 12 131069254 131069254 single base substitution C T intron_variant COCA-CN 12 131083924 131083924 single base substitution C T intron_variant COCA-CN 12 131092201 131092201 single base substitution C T intron_variant COCA-CN 12 131092250 131092250 single base substitution A T intron_variant COCA-CN 12 131110984 131110984 single base substitution A G intron_variant COCA-CN 12 131118104 131118104 single base substitution A T intron_variant COCA-CN 12 131122254 131122254 single base substitution C T intron_variant COCA-CN 12 131124124 131124124 single base substitution C G intron_variant COCA-CN 12 131128508 131128508 single base substitution G A intron_variant COCA-CN 12 131148938 131148938 single base substitution A G intron_variant COCA-CN 12 131148960 131148960 single base substitution A G intron_variant COCA-CN 12 131157438 131157438 single base substitution A G intron_variant COCA-CN 12 131171952 131171952 single base substitution G A intron_variant COCA-CN 12 131194293 131194293 single base substitution A C intron_variant EOPC-DE 12 130909013 130909013 single base substitution C T intron_variant EOPC-DE 12 130964482 130964482 single base substitution C T intron_variant EOPC-DE 12 130983770 130983770 single base substitution C T intron_variant EOPC-DE 12 130993614 130993614 single base substitution C T intron_variant EOPC-DE 12 130993614 130993614 single base substitution C T upstream_gene_variant EOPC-DE 12 131118418 131118418 single base substitution C T intron_variant EOPC-DE 12 131125152 131125152 single base substitution G A intron_variant EOPC-DE 12 131187122 131187122 single base substitution A G intron_variant EOPC-DE 12 131195609 131195609 single base substitution G A intron_variant ESAD-UK 12 130875854 130875854 single base substitution G A downstream_gene_variant ESAD-UK 12 130879343 130879343 single base substitution G A downstream_gene_variant ESAD-UK 12 130880086 130880086 single base substitution A T downstream_gene_variant ESAD-UK 12 130880695 130880695 single base substitution T C 3_prime_UTR_variant ESAD-UK 12 130880695 130880695 single base substitution T C downstream_gene_variant ESAD-UK 12 130881186 130881186 single base substitution A T 3_prime_UTR_variant ESAD-UK 12 130881186 130881186 single base substitution A T downstream_gene_variant ESAD-UK 12 130881521 130881521 single base substitution A G 3_prime_UTR_variant ESAD-UK 12 130881521 130881521 single base substitution A G downstream_gene_variant ESAD-UK 12 130881809 130881809 single base substitution A C 3_prime_UTR_variant ESAD-UK 12 130881809 130881809 single base substitution A C downstream_gene_variant ESAD-UK 12 130881817 130881817 deletion of <=200bp T - 3_prime_UTR_variant ESAD-UK 12 130881817 130881817 deletion of <=200bp T - downstream_gene_variant ESAD-UK 12 130881833 130881833 single base substitution T A 3_prime_UTR_variant ESAD-UK 12 130881833 130881833 single base substitution T A downstream_gene_variant ESAD-UK 12 130882305 130882305 single base substitution T A 3_prime_UTR_variant ESAD-UK 12 130882305 130882305 single base substitution T A downstream_gene_variant ESAD-UK 12 130882305 130882305 single base substitution T A intron_variant ESAD-UK 12 130882724 130882724 single base substitution C T 3_prime_UTR_variant ESAD-UK 12 130882724 130882724 single base substitution C T downstream_gene_variant ESAD-UK 12 130882724 130882724 single base substitution C T intron_variant ESAD-UK 12 130883386 130883386 single base substitution A C 3_prime_UTR_variant ESAD-UK 12 130883386 130883386 single base substitution A C downstream_gene_variant ESAD-UK 12 130883386 130883386 single base substitution A C intron_variant ESAD-UK 12 130884258 130884258 single base substitution G T 3_prime_UTR_variant ESAD-UK 12 130884258 130884258 single base substitution G T downstream_gene_variant ESAD-UK 12 130884258 130884258 single base substitution G T missense_variant S1033Y 3098C>A ESAD-UK 12 130884319 130884319 single base substitution A C 3_prime_UTR_variant ESAD-UK 12 130884319 130884319 single base substitution A C missense_variant F1013V 3037T>G ESAD-UK 12 130884319 130884319 single base substitution A C missense_variant F150V 448T>G ESAD-UK 12 130885612 130885612 single base substitution T A intron_variant ESAD-UK 12 130886395 130886395 single base substitution T G intron_variant ESAD-UK 12 130887074 130887074 single base substitution C G intron_variant ESAD-UK 12 130891261 130891261 single base substitution G A intron_variant ESAD-UK 12 130891541 130891541 single base substitution C T intron_variant ESAD-UK 12 130891627 130891627 single base substitution G T intron_variant ESAD-UK 12 130892337 130892337 single base substitution C T exon_variant ESAD-UK 12 130892337 130892337 single base substitution C T synonymous_variant S90S 270G>A ESAD-UK 12 130892337 130892337 single base substitution C T synonymous_variant S953S 2859G>A ESAD-UK 12 130892526 130892526 single base substitution G A intron_variant ESAD-UK 12 130892526 130892526 single base substitution G A upstream_gene_variant ESAD-UK 12 130892795 130892795 single base substitution T A intron_variant ESAD-UK 12 130892795 130892795 single base substitution T A upstream_gene_variant ESAD-UK 12 130893085 130893085 single base substitution A C intron_variant ESAD-UK 12 130893085 130893085 single base substitution A C upstream_gene_variant ESAD-UK 12 130893506 130893506 single base substitution G A intron_variant ESAD-UK 12 130893506 130893506 single base substitution G A upstream_gene_variant ESAD-UK 12 130893572 130893572 single base substitution C A intron_variant ESAD-UK 12 130893572 130893572 single base substitution C A upstream_gene_variant ESAD-UK 12 130894495 130894495 single base substitution T A intron_variant ESAD-UK 12 130894495 130894495 single base substitution T A upstream_gene_variant ESAD-UK 12 130895510 130895510 single base substitution A G intron_variant ESAD-UK 12 130895510 130895510 single base substitution A G upstream_gene_variant ESAD-UK 12 130895658 130895658 single base substitution C T intron_variant ESAD-UK 12 130895658 130895658 single base substitution C T upstream_gene_variant ESAD-UK 12 130895844 130895844 single base substitution A C intron_variant ESAD-UK 12 130895844 130895844 single base substitution A C upstream_gene_variant ESAD-UK 12 130895898 130895898 single base substitution C T intron_variant ESAD-UK 12 130895898 130895898 single base substitution C T upstream_gene_variant ESAD-UK 12 130896160 130896160 single base substitution T G intron_variant ESAD-UK 12 130896160 130896160 single base substitution T G upstream_gene_variant ESAD-UK 12 130896484 130896484 single base substitution A T intron_variant ESAD-UK 12 130896484 130896484 single base substitution A T upstream_gene_variant ESAD-UK 12 130896842 130896842 single base substitution G A intron_variant ESAD-UK 12 130896842 130896842 single base substitution G A upstream_gene_variant ESAD-UK 12 130897704 130897704 single base substitution C T intron_variant ESAD-UK 12 130897968 130897968 single base substitution A G intron_variant ESAD-UK 12 130898026 130898026 single base substitution A C intron_variant ESAD-UK 12 130899560 130899560 single base substitution A C intron_variant ESAD-UK 12 130899560 130899560 single base substitution A C upstream_gene_variant ESAD-UK 12 130899907 130899907 insertion of <=200bp - A intron_variant ESAD-UK 12 130899907 130899907 insertion of <=200bp - A upstream_gene_variant ESAD-UK 12 130900536 130900536 single base substitution A C intron_variant ESAD-UK 12 130900536 130900536 single base substitution A C upstream_gene_variant ESAD-UK 12 130900840 130900840 single base substitution G A intron_variant ESAD-UK 12 130900840 130900840 single base substitution G A upstream_gene_variant ESAD-UK 12 130901200 130901200 single base substitution T C intron_variant ESAD-UK 12 130901200 130901200 single base substitution T C upstream_gene_variant ESAD-UK 12 130903185 130903185 single base substitution A C intron_variant ESAD-UK 12 130903185 130903185 single base substitution A C upstream_gene_variant ESAD-UK 12 130903185 130903185 single base substitution A T intron_variant ESAD-UK 12 130903185 130903185 single base substitution A T upstream_gene_variant ESAD-UK 12 130903188 130903188 single base substitution T G intron_variant ESAD-UK 12 130903188 130903188 single base substitution T G upstream_gene_variant ESAD-UK 12 130904011 130904011 single base substitution A T intron_variant ESAD-UK 12 130904011 130904011 single base substitution A T upstream_gene_variant ESAD-UK 12 130904053 130904053 single base substitution C A intron_variant ESAD-UK 12 130904053 130904053 single base substitution C A upstream_gene_variant ESAD-UK 12 130904906 130904906 single base substitution T G intron_variant ESAD-UK 12 130905225 130905225 insertion of <=200bp - T intron_variant ESAD-UK 12 130905349 130905349 single base substitution T G intron_variant ESAD-UK 12 130905394 130905394 single base substitution A T intron_variant ESAD-UK 12 130905544 130905544 single base substitution T C intron_variant ESAD-UK 12 130905621 130905621 single base substitution T C intron_variant ESAD-UK 12 130906148 130906148 single base substitution A G intron_variant ESAD-UK 12 130907030 130907030 single base substitution T A missense_variant Q813L 2438A>T ESAD-UK 12 130907220 130907220 single base substitution A T intron_variant ESAD-UK 12 130907592 130907592 single base substitution T C intron_variant ESAD-UK 12 130908837 130908837 single base substitution C T intron_variant ESAD-UK 12 130909161 130909161 single base substitution C T intron_variant ESAD-UK 12 130909971 130909971 single base substitution C T intron_variant ESAD-UK 12 130910160 130910160 single base substitution G T intron_variant ESAD-UK 12 130910513 130910513 single base substitution G A intron_variant ESAD-UK 12 130911265 130911265 single base substitution A G downstream_gene_variant ESAD-UK 12 130911265 130911265 single base substitution A G intron_variant ESAD-UK 12 130911512 130911512 single base substitution T G downstream_gene_variant ESAD-UK 12 130911512 130911512 single base substitution T G intron_variant ESAD-UK 12 130912504 130912504 single base substitution C A downstream_gene_variant ESAD-UK 12 130912504 130912504 single base substitution C A intron_variant ESAD-UK 12 130913791 130913791 single base substitution A G downstream_gene_variant ESAD-UK 12 130913791 130913791 single base substitution A G intron_variant ESAD-UK 12 130913919 130913919 single base substitution G A downstream_gene_variant ESAD-UK 12 130913919 130913919 single base substitution G A intron_variant ESAD-UK 12 130914610 130914610 single base substitution C T downstream_gene_variant ESAD-UK 12 130914610 130914610 single base substitution C T intron_variant ESAD-UK 12 130915032 130915032 single base substitution C A downstream_gene_variant ESAD-UK 12 130915032 130915032 single base substitution C A intron_variant ESAD-UK 12 130916184 130916184 single base substitution G A downstream_gene_variant ESAD-UK 12 130916184 130916184 single base substitution G A intron_variant ESAD-UK 12 130916912 130916912 single base substitution T G intron_variant ESAD-UK 12 130916987 130916987 single base substitution T C intron_variant ESAD-UK 12 130917292 130917292 single base substitution T C intron_variant ESAD-UK 12 130917411 130917411 single base substitution A G intron_variant ESAD-UK 12 130917469 130917469 single base substitution C A intron_variant ESAD-UK 12 130917776 130917776 single base substitution T C intron_variant ESAD-UK 12 130917953 130917953 single base substitution T G intron_variant ESAD-UK 12 130918182 130918182 single base substitution C T intron_variant ESAD-UK 12 130918255 130918255 single base substitution C T intron_variant ESAD-UK 12 130918480 130918480 single base substitution C T intron_variant ESAD-UK 12 130919310 130919310 single base substitution T A missense_variant D632V 1895A>T ESAD-UK 12 130919310 130919310 single base substitution T A missense_variant D724V 2171A>T ESAD-UK 12 130919975 130919975 single base substitution A C intron_variant ESAD-UK 12 130920344 130920344 single base substitution C A intron_variant ESAD-UK 12 130920868 130920868 single base substitution G A intron_variant ESAD-UK 12 130920991 130920991 single base substitution C T intron_variant ESAD-UK 12 130921049 130921049 single base substitution G C intron_variant ESAD-UK 12 130921548 130921548 single base substitution C T missense_variant G540S 1618G>A ESAD-UK 12 130921548 130921548 single base substitution C T missense_variant G632S 1894G>A ESAD-UK 12 130921599 130921599 single base substitution G T missense_variant L523M 1567C>A ESAD-UK 12 130921599 130921599 single base substitution G T missense_variant L615M 1843C>A ESAD-UK 12 130922502 130922502 single base substitution T C intron_variant ESAD-UK 12 130922850 130922850 single base substitution G T intron_variant ESAD-UK 12 130923001 130923001 single base substitution C T missense_variant R413Q 1238G>A ESAD-UK 12 130923001 130923001 single base substitution C T missense_variant R505Q 1514G>A ESAD-UK 12 130923660 130923660 single base substitution G A intron_variant ESAD-UK 12 130924066 130924066 single base substitution G C intron_variant ESAD-UK 12 130924306 130924306 single base substitution G C intron_variant ESAD-UK 12 130924642 130924642 single base substitution C T intron_variant ESAD-UK 12 130925148 130925148 single base substitution G A intron_variant ESAD-UK 12 130925344 130925344 single base substitution C A intron_variant ESAD-UK 12 130925430 130925430 single base substitution G A intron_variant ESAD-UK 12 130925664 130925664 single base substitution G A intron_variant ESAD-UK 12 130925722 130925722 single base substitution C A intron_variant ESAD-UK 12 130926063 130926063 single base substitution G A intron_variant ESAD-UK 12 130926571 130926571 single base substitution G A synonymous_variant N333N 999C>T ESAD-UK 12 130926571 130926571 single base substitution G A synonymous_variant N425N 1275C>T ESAD-UK 12 130927164 130927164 single base substitution A C missense_variant F136V 406T>G ESAD-UK 12 130927164 130927164 single base substitution A C missense_variant F228V 682T>G ESAD-UK 12 130927164 130927164 single base substitution A G missense_variant F136L 406T>C ESAD-UK 12 130927164 130927164 single base substitution A G missense_variant F228L 682T>C ESAD-UK 12 130928765 130928765 single base substitution A G intron_variant ESAD-UK 12 130929004 130929004 single base substitution G C intron_variant ESAD-UK 12 130929639 130929639 single base substitution G T intron_variant ESAD-UK 12 130929679 130929679 single base substitution C T intron_variant ESAD-UK 12 130929742 130929742 single base substitution G A synonymous_variant Y109Y 327C>T ESAD-UK 12 130929742 130929742 single base substitution G A synonymous_variant Y201Y 603C>T ESAD-UK 12 130929789 130929789 single base substitution C T missense_variant E186K 556G>A ESAD-UK 12 130929789 130929789 single base substitution C T missense_variant E94K 280G>A ESAD-UK 12 130929981 130929981 single base substitution A T intron_variant ESAD-UK 12 130929994 130929994 single base substitution T G intron_variant ESAD-UK 12 130931279 130931279 single base substitution A T intron_variant ESAD-UK 12 130932625 130932625 single base substitution C T intron_variant ESAD-UK 12 130932959 130932959 single base substitution G C intron_variant ESAD-UK 12 130933139 130933139 single base substitution C A intron_variant ESAD-UK 12 130933222 130933222 single base substitution C T intron_variant ESAD-UK 12 130933395 130933395 single base substitution G T intron_variant ESAD-UK 12 130933442 130933442 single base substitution G T intron_variant ESAD-UK 12 130933734 130933734 single base substitution A G intron_variant ESAD-UK 12 130933744 130933744 single base substitution A G intron_variant ESAD-UK 12 130933752 130933752 single base substitution G T intron_variant ESAD-UK 12 130933780 130933780 single base substitution G T intron_variant ESAD-UK 12 130934053 130934053 single base substitution A G intron_variant ESAD-UK 12 130934330 130934330 single base substitution G A intron_variant ESAD-UK 12 130934659 130934659 single base substitution T G intron_variant ESAD-UK 12 130935180 130935180 single base substitution A G intron_variant ESAD-UK 12 130935690 130935690 single base substitution G T intron_variant ESAD-UK 12 130935769 130935769 single base substitution C T missense_variant G142S 424G>A ESAD-UK 12 130935769 130935769 single base substitution C T missense_variant G50S 148G>A ESAD-UK 12 130937205 130937205 single base substitution T C intron_variant ESAD-UK 12 130937305 130937305 single base substitution T C intron_variant ESAD-UK 12 130938857 130938857 single base substitution A C intron_variant ESAD-UK 12 130938942 130938942 single base substitution C T intron_variant ESAD-UK 12 130939338 130939338 single base substitution G A intron_variant ESAD-UK 12 130940137 130940137 single base substitution G A intron_variant ESAD-UK 12 130940703 130940703 single base substitution T A intron_variant ESAD-UK 12 130941370 130941370 single base substitution G T intron_variant ESAD-UK 12 130941780 130941780 single base substitution A G intron_variant ESAD-UK 12 130942240 130942240 single base substitution C T intron_variant ESAD-UK 12 130942334 130942334 single base substitution G C intron_variant ESAD-UK 12 130942761 130942761 single base substitution C A intron_variant ESAD-UK 12 130942800 130942800 single base substitution T G intron_variant ESAD-UK 12 130944724 130944724 single base substitution T G intron_variant ESAD-UK 12 130944856 130944856 single base substitution C T intron_variant ESAD-UK 12 130945225 130945225 single base substitution G C intron_variant ESAD-UK 12 130945532 130945532 single base substitution A G intron_variant ESAD-UK 12 130945803 130945803 single base substitution C T intron_variant ESAD-UK 12 130945898 130945898 single base substitution C A intron_variant ESAD-UK 12 130946064 130946064 single base substitution G A intron_variant ESAD-UK 12 130946344 130946344 single base substitution C T intron_variant ESAD-UK 12 130946450 130946450 single base substitution T C intron_variant ESAD-UK 12 130948219 130948219 single base substitution C T intron_variant ESAD-UK 12 130948864 130948864 single base substitution T A intron_variant ESAD-UK 12 130949294 130949294 single base substitution T C intron_variant ESAD-UK 12 130950052 130950052 single base substitution T G downstream_gene_variant ESAD-UK 12 130950052 130950052 single base substitution T G intron_variant ESAD-UK 12 130950943 130950943 single base substitution A C downstream_gene_variant ESAD-UK 12 130950943 130950943 single base substitution A C intron_variant ESAD-UK 12 130951131 130951131 single base substitution G T downstream_gene_variant ESAD-UK 12 130951131 130951131 single base substitution G T intron_variant ESAD-UK 12 130951194 130951194 single base substitution A C downstream_gene_variant ESAD-UK 12 130951194 130951194 single base substitution A C intron_variant ESAD-UK 12 130951273 130951273 single base substitution G A downstream_gene_variant ESAD-UK 12 130951273 130951273 single base substitution G A intron_variant ESAD-UK 12 130951491 130951491 single base substitution A C downstream_gene_variant ESAD-UK 12 130951491 130951491 single base substitution A C intron_variant ESAD-UK 12 130951579 130951579 single base substitution G T downstream_gene_variant ESAD-UK 12 130951579 130951579 single base substitution G T intron_variant ESAD-UK 12 130951623 130951623 single base substitution T C downstream_gene_variant ESAD-UK 12 130951623 130951623 single base substitution T C intron_variant ESAD-UK 12 130953802 130953802 single base substitution C A downstream_gene_variant ESAD-UK 12 130953802 130953802 single base substitution C A intron_variant ESAD-UK 12 130953948 130953948 single base substitution C T downstream_gene_variant ESAD-UK 12 130953948 130953948 single base substitution C T intron_variant ESAD-UK 12 130954007 130954007 single base substitution C T downstream_gene_variant ESAD-UK 12 130954007 130954007 single base substitution C T intron_variant ESAD-UK 12 130954862 130954862 single base substitution T C exon_variant ESAD-UK 12 130954862 130954862 single base substitution T C intron_variant ESAD-UK 12 130955249 130955249 single base substitution G A 5_prime_UTR_variant ESAD-UK 12 130955249 130955249 single base substitution G A exon_variant ESAD-UK 12 130955249 130955249 single base substitution G A intron_variant ESAD-UK 12 130955264 130955264 single base substitution G C 5_prime_UTR_variant ESAD-UK 12 130955264 130955264 single base substitution G C exon_variant ESAD-UK 12 130955264 130955264 single base substitution G C intron_variant ESAD-UK 12 130955488 130955488 single base substitution T G intron_variant ESAD-UK 12 130955639 130955639 single base substitution T G intron_variant ESAD-UK 12 130956270 130956270 single base substitution T C intron_variant ESAD-UK 12 130956540 130956540 single base substitution A G 5_prime_UTR_variant ESAD-UK 12 130956540 130956540 single base substitution A G intron_variant ESAD-UK 12 130956561 130956561 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 12 130956561 130956561 single base substitution T A intron_variant ESAD-UK 12 130956668 130956668 single base substitution C T 5_prime_UTR_variant ESAD-UK 12 130956668 130956668 single base substitution C T intron_variant ESAD-UK 12 130956952 130956952 single base substitution C T intron_variant ESAD-UK 12 130956964 130956964 single base substitution T C intron_variant ESAD-UK 12 130957834 130957834 single base substitution C T intron_variant ESAD-UK 12 130957917 130957917 single base substitution T C intron_variant ESAD-UK 12 130958660 130958660 single base substitution G A intron_variant ESAD-UK 12 130959092 130959092 single base substitution G T intron_variant ESAD-UK 12 130959852 130959852 single base substitution G A intron_variant ESAD-UK 12 130959987 130959987 single base substitution C T intron_variant ESAD-UK 12 130960342 130960342 single base substitution C T intron_variant ESAD-UK 12 130960469 130960469 single base substitution T A intron_variant ESAD-UK 12 130961050 130961050 single base substitution A T intron_variant ESAD-UK 12 130961429 130961429 single base substitution G A intron_variant ESAD-UK 12 130961445 130961445 single base substitution C T intron_variant ESAD-UK 12 130961453 130961453 single base substitution C T intron_variant ESAD-UK 12 130961829 130961829 single base substitution C A intron_variant ESAD-UK 12 130962246 130962246 single base substitution A C intron_variant ESAD-UK 12 130962538 130962538 single base substitution C T intron_variant ESAD-UK 12 130962942 130962942 single base substitution G A intron_variant ESAD-UK 12 130963204 130963204 single base substitution T G intron_variant ESAD-UK 12 130963748 130963748 single base substitution A G intron_variant ESAD-UK 12 130964056 130964056 single base substitution T C intron_variant ESAD-UK 12 130964103 130964103 single base substitution C T intron_variant ESAD-UK 12 130964318 130964318 single base substitution T G intron_variant ESAD-UK 12 130965332 130965332 single base substitution T A intron_variant ESAD-UK 12 130966029 130966029 single base substitution C T intron_variant ESAD-UK 12 130968270 130968270 single base substitution A G intron_variant ESAD-UK 12 130968641 130968641 single base substitution G A intron_variant ESAD-UK 12 130970286 130970286 single base substitution G A intron_variant ESAD-UK 12 130970464 130970464 single base substitution G T intron_variant ESAD-UK 12 130970850 130970850 single base substitution G A intron_variant ESAD-UK 12 130971114 130971114 single base substitution T G intron_variant ESAD-UK 12 130971789 130971789 single base substitution G T intron_variant ESAD-UK 12 130971865 130971865 single base substitution T A intron_variant ESAD-UK 12 130972242 130972242 single base substitution T G intron_variant ESAD-UK 12 130972301 130972301 single base substitution A T intron_variant ESAD-UK 12 130972984 130972984 single base substitution A C intron_variant ESAD-UK 12 130972984 130972984 single base substitution A T intron_variant ESAD-UK 12 130973016 130973016 deletion of <=200bp A - intron_variant ESAD-UK 12 130973139 130973139 single base substitution G T intron_variant ESAD-UK 12 130973297 130973297 single base substitution A G intron_variant ESAD-UK 12 130973634 130973634 single base substitution A C intron_variant ESAD-UK 12 130973970 130973970 single base substitution C G intron_variant ESAD-UK 12 130974962 130974962 deletion of <=200bp T - intron_variant ESAD-UK 12 130975036 130975036 single base substitution G C intron_variant ESAD-UK 12 130975345 130975345 single base substitution G C intron_variant ESAD-UK 12 130975373 130975373 single base substitution A G intron_variant ESAD-UK 12 130975624 130975624 single base substitution C T intron_variant ESAD-UK 12 130975813 130975813 single base substitution C T intron_variant ESAD-UK 12 130976129 130976129 single base substitution C T intron_variant ESAD-UK 12 130976519 130976519 single base substitution C T intron_variant ESAD-UK 12 130977455 130977455 single base substitution G T intron_variant ESAD-UK 12 130977927 130977927 single base substitution T G intron_variant ESAD-UK 12 130978803 130978803 single base substitution A C intron_variant ESAD-UK 12 130979094 130979094 single base substitution G A intron_variant ESAD-UK 12 130979472 130979472 single base substitution G A intron_variant ESAD-UK 12 130979597 130979597 single base substitution T G intron_variant ESAD-UK 12 130980096 130980096 insertion of <=200bp - T intron_variant ESAD-UK 12 130980163 130980163 single base substitution T A intron_variant ESAD-UK 12 130980208 130980208 single base substitution C A intron_variant ESAD-UK 12 130980808 130980808 single base substitution C A intron_variant ESAD-UK 12 130981319 130981319 single base substitution G A intron_variant ESAD-UK 12 130981380 130981380 single base substitution T G intron_variant ESAD-UK 12 130981630 130981630 single base substitution T G intron_variant ESAD-UK 12 130982574 130982574 single base substitution C A intron_variant ESAD-UK 12 130982651 130982651 single base substitution T G intron_variant ESAD-UK 12 130982661 130982661 single base substitution C A intron_variant ESAD-UK 12 130982991 130982991 single base substitution G C intron_variant ESAD-UK 12 130983558 130983558 single base substitution A T intron_variant ESAD-UK 12 130984009 130984009 single base substitution T G intron_variant ESAD-UK 12 130984537 130984537 single base substitution A C intron_variant ESAD-UK 12 130984648 130984648 single base substitution T G intron_variant ESAD-UK 12 130984691 130984691 single base substitution C T intron_variant ESAD-UK 12 130985928 130985928 single base substitution T G intron_variant ESAD-UK 12 130987070 130987070 single base substitution G A intron_variant ESAD-UK 12 130987111 130987111 single base substitution T A intron_variant ESAD-UK 12 130987489 130987489 insertion of <=200bp - C intron_variant ESAD-UK 12 130987723 130987723 single base substitution A G intron_variant ESAD-UK 12 130987888 130987888 single base substitution T G intron_variant ESAD-UK 12 130988104 130988104 single base substitution A C intron_variant ESAD-UK 12 130988244 130988244 single base substitution A T intron_variant ESAD-UK 12 130988325 130988325 single base substitution C A intron_variant ESAD-UK 12 130988533 130988533 single base substitution A C intron_variant ESAD-UK 12 130988961 130988961 single base substitution T C intron_variant ESAD-UK 12 130989288 130989288 single base substitution G A intron_variant ESAD-UK 12 130989421 130989421 single base substitution C T intron_variant ESAD-UK 12 130989459 130989459 single base substitution A G intron_variant ESAD-UK 12 130989662 130989662 single base substitution A T intron_variant ESAD-UK 12 130989792 130989792 single base substitution C G intron_variant ESAD-UK 12 130990958 130990958 single base substitution A G intron_variant ESAD-UK 12 130991020 130991020 single base substitution T G intron_variant ESAD-UK 12 130991526 130991526 single base substitution C G intron_variant ESAD-UK 12 130991526 130991526 single base substitution C G upstream_gene_variant ESAD-UK 12 130991786 130991786 single base substitution C G intron_variant ESAD-UK 12 130991786 130991786 single base substitution C G upstream_gene_variant ESAD-UK 12 130991802 130991802 single base substitution T A intron_variant ESAD-UK 12 130991802 130991802 single base substitution T A upstream_gene_variant ESAD-UK 12 130992009 130992009 single base substitution C T intron_variant ESAD-UK 12 130992009 130992009 single base substitution C T upstream_gene_variant ESAD-UK 12 130992722 130992722 single base substitution T A intron_variant ESAD-UK 12 130992722 130992722 single base substitution T A upstream_gene_variant ESAD-UK 12 130994667 130994667 single base substitution T C intron_variant ESAD-UK 12 130994667 130994667 single base substitution T C upstream_gene_variant ESAD-UK 12 130995047 130995047 single base substitution T C intron_variant ESAD-UK 12 130995047 130995047 single base substitution T C upstream_gene_variant ESAD-UK 12 130995186 130995186 single base substitution G A intron_variant ESAD-UK 12 130995186 130995186 single base substitution G A upstream_gene_variant ESAD-UK 12 130995369 130995369 single base substitution T G intron_variant ESAD-UK 12 130995369 130995369 single base substitution T G upstream_gene_variant ESAD-UK 12 130995469 130995469 deletion of <=200bp A - intron_variant ESAD-UK 12 130995469 130995469 deletion of <=200bp A - upstream_gene_variant ESAD-UK 12 130995560 130995560 single base substitution A G intron_variant ESAD-UK 12 130995560 130995560 single base substitution A G upstream_gene_variant ESAD-UK 12 130995579 130995579 single base substitution T G intron_variant ESAD-UK 12 130995579 130995579 single base substitution T G upstream_gene_variant ESAD-UK 12 130995818 130995818 single base substitution G A intron_variant ESAD-UK 12 130995818 130995818 single base substitution G A upstream_gene_variant ESAD-UK 12 130995956 130995956 single base substitution C T intron_variant ESAD-UK 12 130995956 130995956 single base substitution C T upstream_gene_variant ESAD-UK 12 130996302 130996302 single base substitution T C intron_variant ESAD-UK 12 130996302 130996302 single base substitution T C upstream_gene_variant ESAD-UK 12 130996446 130996446 single base substitution C A intron_variant ESAD-UK 12 130996794 130996794 single base substitution C T intron_variant ESAD-UK 12 130996861 130996861 single base substitution A T intron_variant ESAD-UK 12 130997700 130997700 single base substitution T G intron_variant ESAD-UK 12 130999342 130999342 single base substitution C A intron_variant ESAD-UK 12 130999671 130999671 single base substitution T A intron_variant ESAD-UK 12 131000037 131000037 single base substitution T G intron_variant ESAD-UK 12 131000369 131000369 single base substitution A C intron_variant ESAD-UK 12 131000567 131000567 single base substitution T G intron_variant ESAD-UK 12 131000602 131000602 single base substitution A T intron_variant ESAD-UK 12 131000648 131000648 single base substitution T G intron_variant ESAD-UK 12 131000933 131000933 single base substitution T C intron_variant ESAD-UK 12 131001194 131001194 single base substitution G T intron_variant ESAD-UK 12 131001944 131001944 single base substitution A C intron_variant ESAD-UK 12 131002953 131002953 single base substitution A C intron_variant ESAD-UK 12 131002953 131002953 single base substitution A C upstream_gene_variant ESAD-UK 12 131003162 131003162 single base substitution T A intron_variant ESAD-UK 12 131003162 131003162 single base substitution T A upstream_gene_variant ESAD-UK 12 131003361 131003361 single base substitution A G intron_variant ESAD-UK 12 131003361 131003361 single base substitution A G upstream_gene_variant ESAD-UK 12 131003418 131003418 single base substitution A C intron_variant ESAD-UK 12 131003418 131003418 single base substitution A C upstream_gene_variant ESAD-UK 12 131003760 131003760 single base substitution A C intron_variant ESAD-UK 12 131003760 131003760 single base substitution A C upstream_gene_variant ESAD-UK 12 131003767 131003767 single base substitution A C intron_variant ESAD-UK 12 131003767 131003767 single base substitution A C upstream_gene_variant ESAD-UK 12 131003767 131003767 single base substitution A G intron_variant ESAD-UK 12 131003767 131003767 single base substitution A G upstream_gene_variant ESAD-UK 12 131004408 131004408 single base substitution A G intron_variant ESAD-UK 12 131004408 131004408 single base substitution A G upstream_gene_variant ESAD-UK 12 131004737 131004737 single base substitution A T intron_variant ESAD-UK 12 131004737 131004737 single base substitution A T upstream_gene_variant ESAD-UK 12 131004946 131004946 deletion of <=200bp A - intron_variant ESAD-UK 12 131004946 131004946 deletion of <=200bp A - upstream_gene_variant ESAD-UK 12 131005300 131005300 single base substitution C T intron_variant ESAD-UK 12 131005300 131005300 single base substitution C T upstream_gene_variant ESAD-UK 12 131005308 131005308 single base substitution T C intron_variant ESAD-UK 12 131005308 131005308 single base substitution T C upstream_gene_variant ESAD-UK 12 131005308 131005308 single base substitution T G intron_variant ESAD-UK 12 131005308 131005308 single base substitution T G upstream_gene_variant ESAD-UK 12 131006070 131006070 single base substitution C T intron_variant ESAD-UK 12 131006070 131006070 single base substitution C T upstream_gene_variant ESAD-UK 12 131006108 131006108 single base substitution T G intron_variant ESAD-UK 12 131006108 131006108 single base substitution T G upstream_gene_variant ESAD-UK 12 131006204 131006204 single base substitution G C intron_variant ESAD-UK 12 131006204 131006204 single base substitution G C upstream_gene_variant ESAD-UK 12 131007846 131007846 single base substitution C T intron_variant ESAD-UK 12 131007942 131007942 single base substitution G A intron_variant ESAD-UK 12 131008059 131008059 single base substitution A C intron_variant ESAD-UK 12 131008618 131008618 single base substitution A G intron_variant ESAD-UK 12 131008691 131008691 single base substitution T G intron_variant ESAD-UK 12 131008729 131008729 single base substitution A G intron_variant ESAD-UK 12 131009475 131009475 single base substitution C T intron_variant ESAD-UK 12 131009989 131009989 single base substitution G C intron_variant ESAD-UK 12 131010448 131010448 single base substitution A C intron_variant ESAD-UK 12 131010735 131010735 single base substitution T G intron_variant ESAD-UK 12 131011258 131011258 single base substitution A C intron_variant ESAD-UK 12 131011474 131011474 single base substitution C T intron_variant ESAD-UK 12 131011591 131011591 single base substitution G A intron_variant ESAD-UK 12 131011837 131011837 single base substitution A C intron_variant ESAD-UK 12 131012048 131012048 single base substitution T G intron_variant ESAD-UK 12 131012246 131012246 single base substitution G A intron_variant ESAD-UK 12 131012354 131012354 single base substitution A G intron_variant ESAD-UK 12 131012823 131012823 single base substitution A G intron_variant ESAD-UK 12 131013069 131013069 single base substitution A C intron_variant ESAD-UK 12 131013190 131013190 single base substitution T G intron_variant ESAD-UK 12 131013334 131013334 single base substitution T G intron_variant ESAD-UK 12 131013487 131013487 single base substitution T A intron_variant ESAD-UK 12 131013785 131013785 single base substitution A G intron_variant ESAD-UK 12 131014454 131014454 single base substitution C G intron_variant ESAD-UK 12 131014573 131014573 single base substitution A C intron_variant ESAD-UK 12 131014624 131014624 single base substitution A C intron_variant ESAD-UK 12 131014670 131014670 single base substitution T G intron_variant ESAD-UK 12 131014762 131014762 single base substitution C T intron_variant ESAD-UK 12 131014965 131014965 single base substitution A C intron_variant ESAD-UK 12 131014968 131014968 single base substitution A C intron_variant ESAD-UK 12 131015018 131015018 single base substitution A C intron_variant ESAD-UK 12 131015018 131015018 single base substitution A T intron_variant ESAD-UK 12 131015313 131015313 single base substitution T C intron_variant ESAD-UK 12 131015414 131015414 single base substitution C A intron_variant ESAD-UK 12 131015836 131015836 single base substitution A C intron_variant ESAD-UK 12 131015836 131015836 single base substitution A G intron_variant ESAD-UK 12 131016278 131016278 single base substitution C A intron_variant ESAD-UK 12 131016384 131016384 single base substitution G A intron_variant ESAD-UK 12 131017029 131017029 single base substitution C T intron_variant ESAD-UK 12 131018438 131018438 single base substitution C T intron_variant ESAD-UK 12 131018669 131018669 single base substitution C T intron_variant ESAD-UK 12 131019028 131019028 single base substitution G T intron_variant ESAD-UK 12 131019250 131019250 single base substitution C A intron_variant ESAD-UK 12 131019298 131019298 single base substitution T G intron_variant ESAD-UK 12 131019836 131019836 single base substitution G A intron_variant ESAD-UK 12 131020421 131020421 single base substitution T A intron_variant ESAD-UK 12 131021616 131021616 single base substitution A C intron_variant ESAD-UK 12 131021770 131021770 single base substitution T G intron_variant ESAD-UK 12 131021837 131021837 single base substitution A C intron_variant ESAD-UK 12 131022267 131022267 single base substitution T C intron_variant ESAD-UK 12 131022479 131022479 single base substitution C A intron_variant ESAD-UK 12 131023152 131023152 single base substitution T G intron_variant ESAD-UK 12 131023307 131023307 single base substitution A C intron_variant ESAD-UK 12 131023358 131023358 single base substitution A C intron_variant ESAD-UK 12 131023636 131023636 single base substitution A C intron_variant ESAD-UK 12 131023813 131023813 single base substitution C A intron_variant ESAD-UK 12 131025449 131025449 single base substitution A G intron_variant ESAD-UK 12 131025480 131025480 single base substitution A C intron_variant ESAD-UK 12 131025480 131025480 single base substitution A G intron_variant ESAD-UK 12 131026015 131026015 single base substitution A G intron_variant ESAD-UK 12 131026124 131026124 single base substitution T G intron_variant ESAD-UK 12 131026510 131026510 single base substitution T G intron_variant ESAD-UK 12 131026561 131026561 single base substitution T G intron_variant ESAD-UK 12 131026604 131026604 single base substitution G C intron_variant ESAD-UK 12 131026686 131026686 single base substitution A C intron_variant ESAD-UK 12 131026730 131026730 single base substitution T G intron_variant ESAD-UK 12 131026793 131026793 single base substitution A G intron_variant ESAD-UK 12 131027044 131027044 insertion of <=200bp - A intron_variant ESAD-UK 12 131027195 131027195 single base substitution T G intron_variant ESAD-UK 12 131027333 131027333 single base substitution A C intron_variant ESAD-UK 12 131027599 131027599 single base substitution A C intron_variant ESAD-UK 12 131027749 131027749 single base substitution C A intron_variant ESAD-UK 12 131027893 131027893 single base substitution T C intron_variant ESAD-UK 12 131028317 131028317 insertion of <=200bp - C intron_variant ESAD-UK 12 131028701 131028701 single base substitution T G intron_variant ESAD-UK 12 131028733 131028733 single base substitution T G intron_variant ESAD-UK 12 131028796 131028796 single base substitution T C intron_variant ESAD-UK 12 131028848 131028848 single base substitution G A intron_variant ESAD-UK 12 131028912 131028912 single base substitution G C intron_variant ESAD-UK 12 131029380 131029380 single base substitution T G intron_variant ESAD-UK 12 131029688 131029688 single base substitution T G intron_variant ESAD-UK 12 131030518 131030518 single base substitution A G intron_variant ESAD-UK 12 131030531 131030531 single base substitution A C intron_variant ESAD-UK 12 131030807 131030807 single base substitution C T intron_variant ESAD-UK 12 131031034 131031034 deletion of <=200bp T - intron_variant ESAD-UK 12 131031279 131031279 single base substitution G A intron_variant ESAD-UK 12 131031571 131031571 single base substitution T C intron_variant ESAD-UK 12 131032401 131032401 single base substitution A G intron_variant ESAD-UK 12 131032554 131032554 single base substitution A C intron_variant ESAD-UK 12 131032554 131032554 single base substitution A G intron_variant ESAD-UK 12 131032830 131032830 single base substitution T G intron_variant ESAD-UK 12 131032841 131032841 single base substitution T C intron_variant ESAD-UK 12 131032842 131032842 single base substitution C T intron_variant ESAD-UK 12 131033102 131033102 single base substitution T A intron_variant ESAD-UK 12 131033163 131033163 single base substitution A G intron_variant ESAD-UK 12 131033298 131033298 single base substitution T C intron_variant ESAD-UK 12 131033340 131033340 single base substitution A C intron_variant ESAD-UK 12 131033383 131033383 single base substitution C T intron_variant ESAD-UK 12 131033530 131033530 single base substitution T A intron_variant ESAD-UK 12 131034047 131034047 single base substitution G T intron_variant ESAD-UK 12 131034166 131034166 single base substitution T G intron_variant ESAD-UK 12 131035057 131035057 single base substitution C T intron_variant ESAD-UK 12 131035096 131035096 single base substitution A G intron_variant ESAD-UK 12 131036147 131036147 single base substitution A G intron_variant ESAD-UK 12 131036344 131036344 single base substitution C A intron_variant ESAD-UK 12 131036440 131036440 single base substitution A G intron_variant ESAD-UK 12 131036684 131036684 single base substitution A C intron_variant ESAD-UK 12 131036719 131036719 single base substitution T G intron_variant ESAD-UK 12 131037535 131037535 single base substitution A C intron_variant ESAD-UK 12 131037546 131037546 single base substitution A C intron_variant ESAD-UK 12 131037952 131037952 single base substitution C A intron_variant ESAD-UK 12 131038438 131038438 single base substitution T G intron_variant ESAD-UK 12 131038454 131038454 single base substitution A G intron_variant ESAD-UK 12 131038525 131038525 single base substitution A C intron_variant ESAD-UK 12 131038584 131038584 single base substitution A G intron_variant ESAD-UK 12 131038789 131038789 single base substitution A G intron_variant ESAD-UK 12 131038799 131038799 single base substitution A C intron_variant ESAD-UK 12 131038803 131038803 single base substitution T C intron_variant ESAD-UK 12 131038803 131038803 single base substitution T G intron_variant ESAD-UK 12 131039472 131039472 single base substitution C T intron_variant ESAD-UK 12 131039996 131039996 single base substitution A C intron_variant ESAD-UK 12 131041216 131041216 single base substitution C T intron_variant ESAD-UK 12 131041217 131041217 single base substitution G T intron_variant ESAD-UK 12 131041574 131041574 single base substitution T G intron_variant ESAD-UK 12 131042038 131042038 single base substitution C T intron_variant ESAD-UK 12 131042529 131042529 single base substitution C T intron_variant ESAD-UK 12 131042790 131042790 single base substitution T C intron_variant ESAD-UK 12 131043692 131043692 single base substitution T A intron_variant ESAD-UK 12 131043706 131043706 single base substitution T A intron_variant ESAD-UK 12 131044337 131044337 single base substitution C A intron_variant ESAD-UK 12 131045650 131045650 single base substitution A C intron_variant ESAD-UK 12 131045712 131045712 single base substitution T G intron_variant ESAD-UK 12 131046043 131046043 single base substitution T C intron_variant ESAD-UK 12 131046043 131046043 single base substitution T G intron_variant ESAD-UK 12 131046113 131046113 single base substitution T G intron_variant ESAD-UK 12 131046523 131046523 single base substitution A C intron_variant ESAD-UK 12 131047001 131047001 single base substitution T C intron_variant ESAD-UK 12 131047307 131047307 single base substitution T G intron_variant ESAD-UK 12 131047420 131047420 single base substitution G A intron_variant ESAD-UK 12 131047468 131047468 single base substitution T G intron_variant ESAD-UK 12 131047623 131047623 single base substitution A C intron_variant ESAD-UK 12 131047821 131047821 single base substitution T G intron_variant ESAD-UK 12 131048762 131048762 single base substitution C T intron_variant ESAD-UK 12 131048917 131048917 single base substitution T G intron_variant ESAD-UK 12 131049034 131049034 single base substitution T A intron_variant ESAD-UK 12 131049327 131049327 single base substitution C A intron_variant ESAD-UK 12 131049883 131049883 single base substitution G T intron_variant ESAD-UK 12 131050151 131050151 single base substitution A C intron_variant ESAD-UK 12 131051316 131051316 single base substitution A C intron_variant ESAD-UK 12 131051371 131051371 single base substitution T C intron_variant ESAD-UK 12 131051650 131051650 single base substitution A G intron_variant ESAD-UK 12 131052292 131052292 single base substitution C T intron_variant ESAD-UK 12 131052646 131052646 single base substitution T G intron_variant ESAD-UK 12 131052681 131052681 single base substitution C T intron_variant ESAD-UK 12 131052756 131052756 single base substitution A C intron_variant ESAD-UK 12 131052787 131052787 single base substitution G A intron_variant ESAD-UK 12 131053200 131053200 single base substitution G A intron_variant ESAD-UK 12 131053795 131053795 single base substitution A C intron_variant ESAD-UK 12 131054343 131054343 single base substitution A C intron_variant ESAD-UK 12 131054843 131054843 single base substitution C A intron_variant ESAD-UK 12 131055242 131055242 single base substitution T G intron_variant ESAD-UK 12 131055440 131055440 single base substitution A G intron_variant ESAD-UK 12 131055765 131055765 single base substitution A C intron_variant ESAD-UK 12 131056254 131056254 single base substitution G A intron_variant ESAD-UK 12 131056523 131056523 single base substitution G A intron_variant ESAD-UK 12 131057481 131057481 single base substitution C T intron_variant ESAD-UK 12 131057539 131057539 single base substitution C T intron_variant ESAD-UK 12 131057743 131057743 insertion of <=200bp - ATATA intron_variant ESAD-UK 12 131057972 131057972 single base substitution C T intron_variant ESAD-UK 12 131058617 131058617 single base substitution G A intron_variant ESAD-UK 12 131058907 131058907 single base substitution T C intron_variant ESAD-UK 12 131058943 131058943 single base substitution A C intron_variant ESAD-UK 12 131058971 131058971 single base substitution C G intron_variant ESAD-UK 12 131059221 131059221 single base substitution T C intron_variant ESAD-UK 12 131060117 131060117 single base substitution T C intron_variant ESAD-UK 12 131061116 131061116 single base substitution G A intron_variant ESAD-UK 12 131061220 131061220 single base substitution G A intron_variant ESAD-UK 12 131061495 131061495 single base substitution A C intron_variant ESAD-UK 12 131061629 131061629 single base substitution A C intron_variant ESAD-UK 12 131061985 131061985 single base substitution T G intron_variant ESAD-UK 12 131062029 131062029 single base substitution G T intron_variant ESAD-UK 12 131062803 131062803 single base substitution T G intron_variant ESAD-UK 12 131063092 131063092 single base substitution G A intron_variant ESAD-UK 12 131063170 131063170 single base substitution C A intron_variant ESAD-UK 12 131063320 131063320 single base substitution G A intron_variant ESAD-UK 12 131065399 131065399 single base substitution C A intron_variant ESAD-UK 12 131065648 131065648 single base substitution G C intron_variant ESAD-UK 12 131065986 131065986 single base substitution G T intron_variant ESAD-UK 12 131066700 131066700 single base substitution C T intron_variant ESAD-UK 12 131067156 131067156 single base substitution A G intron_variant ESAD-UK 12 131067308 131067308 single base substitution T G intron_variant ESAD-UK 12 131067531 131067531 single base substitution A G intron_variant ESAD-UK 12 131067773 131067773 single base substitution G A intron_variant ESAD-UK 12 131067834 131067834 single base substitution A C intron_variant ESAD-UK 12 131069731 131069731 single base substitution G A intron_variant ESAD-UK 12 131069849 131069849 single base substitution G A intron_variant ESAD-UK 12 131069866 131069866 single base substitution T C intron_variant ESAD-UK 12 131069907 131069907 single base substitution G A intron_variant ESAD-UK 12 131069987 131069987 single base substitution T G intron_variant ESAD-UK 12 131070035 131070035 single base substitution T C intron_variant ESAD-UK 12 131070577 131070577 single base substitution A G intron_variant ESAD-UK 12 131072991 131072991 single base substitution A C intron_variant ESAD-UK 12 131073223 131073223 single base substitution G A intron_variant ESAD-UK 12 131075000 131075000 single base substitution G T intron_variant ESAD-UK 12 131075636 131075636 single base substitution G A intron_variant ESAD-UK 12 131076215 131076215 single base substitution T C intron_variant ESAD-UK 12 131076449 131076449 single base substitution C A intron_variant ESAD-UK 12 131076511 131076511 single base substitution C A intron_variant ESAD-UK 12 131076540 131076540 single base substitution G T intron_variant ESAD-UK 12 131076768 131076768 single base substitution T G intron_variant ESAD-UK 12 131076822 131076822 single base substitution A C intron_variant ESAD-UK 12 131076994 131076994 single base substitution G C intron_variant ESAD-UK 12 131077033 131077033 single base substitution A G intron_variant ESAD-UK 12 131077084 131077084 single base substitution A T intron_variant ESAD-UK 12 131077479 131077479 single base substitution T C intron_variant ESAD-UK 12 131078078 131078078 single base substitution A T intron_variant ESAD-UK 12 131078174 131078174 single base substitution G A intron_variant ESAD-UK 12 131078276 131078276 single base substitution A C intron_variant ESAD-UK 12 131078424 131078424 single base substitution C T intron_variant ESAD-UK 12 131078903 131078903 single base substitution T G intron_variant ESAD-UK 12 131079053 131079053 single base substitution A C intron_variant ESAD-UK 12 131079229 131079229 insertion of <=200bp - G intron_variant ESAD-UK 12 131079724 131079724 single base substitution C A intron_variant ESAD-UK 12 131080061 131080061 single base substitution C T intron_variant ESAD-UK 12 131080079 131080079 single base substitution C T intron_variant ESAD-UK 12 131080133 131080133 single base substitution A G intron_variant ESAD-UK 12 131080499 131080499 single base substitution A G intron_variant ESAD-UK 12 131081691 131081691 single base substitution T G intron_variant ESAD-UK 12 131081939 131081939 single base substitution C T intron_variant ESAD-UK 12 131082028 131082028 single base substitution C T intron_variant ESAD-UK 12 131082047 131082047 single base substitution A C intron_variant ESAD-UK 12 131082772 131082772 single base substitution T G intron_variant ESAD-UK 12 131082925 131082925 single base substitution T C intron_variant ESAD-UK 12 131083092 131083092 single base substitution T A intron_variant ESAD-UK 12 131084009 131084009 single base substitution C T intron_variant ESAD-UK 12 131084034 131084034 single base substitution A C intron_variant ESAD-UK 12 131084120 131084120 single base substitution C T intron_variant ESAD-UK 12 131084585 131084585 single base substitution C A intron_variant ESAD-UK 12 131085488 131085488 single base substitution T G intron_variant ESAD-UK 12 131085597 131085597 single base substitution T G intron_variant ESAD-UK 12 131085653 131085653 single base substitution C A intron_variant ESAD-UK 12 131085763 131085763 single base substitution A C intron_variant ESAD-UK 12 131086399 131086399 single base substitution C T intron_variant ESAD-UK 12 131086727 131086727 single base substitution T C intron_variant ESAD-UK 12 131087400 131087400 single base substitution G A intron_variant ESAD-UK 12 131088001 131088001 single base substitution G T intron_variant ESAD-UK 12 131088478 131088478 single base substitution T G intron_variant ESAD-UK 12 131088730 131088730 single base substitution T A intron_variant ESAD-UK 12 131089274 131089274 insertion of <=200bp - G intron_variant ESAD-UK 12 131089596 131089596 single base substitution C T intron_variant ESAD-UK 12 131089603 131089603 single base substitution C T intron_variant ESAD-UK 12 131089890 131089890 single base substitution C T intron_variant ESAD-UK 12 131090183 131090183 single base substitution A G intron_variant ESAD-UK 12 131090460 131090460 single base substitution A G intron_variant ESAD-UK 12 131090504 131090504 single base substitution T G intron_variant ESAD-UK 12 131090783 131090783 single base substitution T C intron_variant ESAD-UK 12 131092049 131092049 single base substitution A G intron_variant ESAD-UK 12 131092530 131092530 single base substitution A C intron_variant ESAD-UK 12 131092634 131092634 single base substitution T C intron_variant ESAD-UK 12 131093056 131093056 single base substitution A C intron_variant ESAD-UK 12 131093085 131093085 single base substitution T A intron_variant ESAD-UK 12 131093275 131093275 single base substitution C T intron_variant ESAD-UK 12 131093737 131093737 single base substitution A C intron_variant ESAD-UK 12 131093911 131093911 single base substitution T A intron_variant ESAD-UK 12 131093912 131093912 single base substitution A T intron_variant ESAD-UK 12 131094070 131094070 single base substitution T C intron_variant ESAD-UK 12 131094371 131094371 single base substitution A G intron_variant ESAD-UK 12 131094476 131094476 single base substitution G T intron_variant ESAD-UK 12 131094506 131094506 single base substitution C T intron_variant ESAD-UK 12 131094995 131094995 single base substitution C T intron_variant ESAD-UK 12 131096056 131096056 single base substitution G A intron_variant ESAD-UK 12 131096063 131096063 single base substitution G A intron_variant ESAD-UK 12 131096357 131096357 single base substitution C T intron_variant ESAD-UK 12 131096414 131096414 single base substitution C T intron_variant ESAD-UK 12 131097374 131097374 single base substitution G T intron_variant ESAD-UK 12 131097976 131097976 single base substitution C T intron_variant ESAD-UK 12 131098021 131098021 single base substitution A T intron_variant ESAD-UK 12 131098109 131098109 single base substitution C G intron_variant ESAD-UK 12 131098657 131098657 single base substitution T G intron_variant ESAD-UK 12 131099087 131099087 single base substitution C T intron_variant ESAD-UK 12 131099168 131099168 single base substitution A C intron_variant ESAD-UK 12 131099175 131099175 single base substitution G T intron_variant ESAD-UK 12 131100374 131100374 single base substitution G A intron_variant ESAD-UK 12 131100452 131100452 single base substitution A C intron_variant ESAD-UK 12 131101269 131101269 single base substitution A C intron_variant ESAD-UK 12 131101279 131101279 single base substitution A C intron_variant ESAD-UK 12 131101528 131101528 single base substitution A C intron_variant ESAD-UK 12 131102453 131102453 single base substitution T A intron_variant ESAD-UK 12 131102475 131102475 single base substitution G A intron_variant ESAD-UK 12 131103978 131103978 single base substitution C A intron_variant ESAD-UK 12 131104181 131104181 single base substitution G T intron_variant ESAD-UK 12 131104198 131104198 single base substitution C T intron_variant ESAD-UK 12 131105148 131105148 single base substitution G T intron_variant ESAD-UK 12 131105682 131105682 single base substitution A C intron_variant ESAD-UK 12 131105715 131105715 single base substitution T G intron_variant ESAD-UK 12 131106840 131106840 single base substitution A C intron_variant ESAD-UK 12 131107341 131107341 insertion of <=200bp - A intron_variant ESAD-UK 12 131107576 131107576 single base substitution T G intron_variant ESAD-UK 12 131109228 131109228 insertion of <=200bp - T intron_variant ESAD-UK 12 131109494 131109494 single base substitution T C intron_variant ESAD-UK 12 131109518 131109518 single base substitution T C intron_variant ESAD-UK 12 131109840 131109840 single base substitution A T intron_variant ESAD-UK 12 131110182 131110182 single base substitution T G intron_variant ESAD-UK 12 131111925 131111925 single base substitution T C intron_variant ESAD-UK 12 131112076 131112076 single base substitution T C intron_variant ESAD-UK 12 131112181 131112181 single base substitution T A intron_variant ESAD-UK 12 131113076 131113076 single base substitution T G intron_variant ESAD-UK 12 131113627 131113627 single base substitution A C intron_variant ESAD-UK 12 131115076 131115076 single base substitution T G intron_variant ESAD-UK 12 131115152 131115152 single base substitution C G intron_variant ESAD-UK 12 131115271 131115271 single base substitution T A intron_variant ESAD-UK 12 131115491 131115491 single base substitution A C intron_variant ESAD-UK 12 131116201 131116201 single base substitution T G intron_variant ESAD-UK 12 131116260 131116260 single base substitution T C intron_variant ESAD-UK 12 131116284 131116284 single base substitution A C intron_variant ESAD-UK 12 131116311 131116311 single base substitution G A intron_variant ESAD-UK 12 131116968 131116968 single base substitution A C intron_variant ESAD-UK 12 131117262 131117262 single base substitution T G intron_variant ESAD-UK 12 131117801 131117801 single base substitution A G intron_variant ESAD-UK 12 131118424 131118424 single base substitution C G intron_variant ESAD-UK 12 131119566 131119566 single base substitution A G intron_variant ESAD-UK 12 131119615 131119615 single base substitution C A intron_variant ESAD-UK 12 131119957 131119957 single base substitution T G intron_variant ESAD-UK 12 131120491 131120491 single base substitution G A intron_variant ESAD-UK 12 131120710 131120710 single base substitution G T intron_variant ESAD-UK 12 131120908 131120908 single base substitution C T intron_variant ESAD-UK 12 131123281 131123281 single base substitution G A intron_variant ESAD-UK 12 131124553 131124553 single base substitution G A intron_variant ESAD-UK 12 131124968 131124968 single base substitution A C intron_variant ESAD-UK 12 131125913 131125913 single base substitution T A intron_variant ESAD-UK 12 131125952 131125952 single base substitution G A intron_variant ESAD-UK 12 131126441 131126441 single base substitution G C intron_variant ESAD-UK 12 131126557 131126557 single base substitution A C intron_variant ESAD-UK 12 131126741 131126741 single base substitution T C intron_variant ESAD-UK 12 131126965 131126965 single base substitution G A intron_variant ESAD-UK 12 131127300 131127300 single base substitution A C intron_variant ESAD-UK 12 131127594 131127594 single base substitution C T intron_variant ESAD-UK 12 131127795 131127795 single base substitution C T intron_variant ESAD-UK 12 131127851 131127851 single base substitution G A intron_variant ESAD-UK 12 131128256 131128256 single base substitution G A intron_variant ESAD-UK 12 131128756 131128756 single base substitution C A intron_variant ESAD-UK 12 131128879 131128879 single base substitution T A intron_variant ESAD-UK 12 131128969 131128969 single base substitution G A intron_variant ESAD-UK 12 131129090 131129090 single base substitution G A intron_variant ESAD-UK 12 131129187 131129187 single base substitution A G intron_variant ESAD-UK 12 131129215 131129215 single base substitution T G intron_variant ESAD-UK 12 131129246 131129246 single base substitution G A intron_variant ESAD-UK 12 131129340 131129340 single base substitution A C intron_variant ESAD-UK 12 131129407 131129407 single base substitution T G intron_variant ESAD-UK 12 131129583 131129583 single base substitution C A intron_variant ESAD-UK 12 131129925 131129925 single base substitution A C intron_variant ESAD-UK 12 131129960 131129960 single base substitution A C intron_variant ESAD-UK 12 131130290 131130290 single base substitution C A intron_variant ESAD-UK 12 131131375 131131375 single base substitution C A intron_variant ESAD-UK 12 131132762 131132762 single base substitution G T intron_variant ESAD-UK 12 131133400 131133400 single base substitution C A intron_variant ESAD-UK 12 131133571 131133571 single base substitution T G intron_variant ESAD-UK 12 131133811 131133811 single base substitution C T intron_variant ESAD-UK 12 131134002 131134002 single base substitution C T intron_variant ESAD-UK 12 131134839 131134839 single base substitution A C intron_variant ESAD-UK 12 131134878 131134878 single base substitution G T intron_variant ESAD-UK 12 131135084 131135084 single base substitution C T intron_variant ESAD-UK 12 131135734 131135734 single base substitution A G intron_variant ESAD-UK 12 131135748 131135748 single base substitution T G intron_variant ESAD-UK 12 131135754 131135754 single base substitution A C intron_variant ESAD-UK 12 131135877 131135877 single base substitution T A intron_variant ESAD-UK 12 131135899 131135899 single base substitution G A intron_variant ESAD-UK 12 131136886 131136886 single base substitution T C intron_variant ESAD-UK 12 131137019 131137019 single base substitution T G intron_variant ESAD-UK 12 131137613 131137613 single base substitution T A intron_variant ESAD-UK 12 131137725 131137725 single base substitution A C intron_variant ESAD-UK 12 131139024 131139024 single base substitution T A intron_variant ESAD-UK 12 131139098 131139098 single base substitution T G intron_variant ESAD-UK 12 131141068 131141068 single base substitution A G intron_variant ESAD-UK 12 131141186 131141186 single base substitution G A intron_variant ESAD-UK 12 131141404 131141404 single base substitution A C intron_variant ESAD-UK 12 131143564 131143564 single base substitution C T intron_variant ESAD-UK 12 131143662 131143662 single base substitution G T intron_variant ESAD-UK 12 131143786 131143786 single base substitution G A intron_variant ESAD-UK 12 131144214 131144214 single base substitution A T intron_variant ESAD-UK 12 131144368 131144368 single base substitution A C intron_variant ESAD-UK 12 131145531 131145531 single base substitution A C intron_variant ESAD-UK 12 131146406 131146406 single base substitution G A intron_variant ESAD-UK 12 131146664 131146664 single base substitution G T intron_variant ESAD-UK 12 131146858 131146858 single base substitution T G intron_variant ESAD-UK 12 131146870 131146870 single base substitution G T intron_variant ESAD-UK 12 131147261 131147261 single base substitution G A intron_variant ESAD-UK 12 131147744 131147744 single base substitution T C intron_variant ESAD-UK 12 131147994 131147994 deletion of <=200bp T - intron_variant ESAD-UK 12 131148577 131148577 single base substitution A T intron_variant ESAD-UK 12 131148652 131148652 insertion of <=200bp - A intron_variant ESAD-UK 12 131149852 131149852 single base substitution T C intron_variant ESAD-UK 12 131149852 131149852 single base substitution T G intron_variant ESAD-UK 12 131150034 131150034 single base substitution C T intron_variant ESAD-UK 12 131150778 131150778 single base substitution C A intron_variant ESAD-UK 12 131151622 131151622 deletion of <=200bp A - intron_variant ESAD-UK 12 131152352 131152352 single base substitution A C intron_variant ESAD-UK 12 131152375 131152375 single base substitution A G intron_variant ESAD-UK 12 131152409 131152409 single base substitution G A intron_variant ESAD-UK 12 131152476 131152476 single base substitution A G intron_variant ESAD-UK 12 131152478 131152478 single base substitution T A intron_variant ESAD-UK 12 131152506 131152506 single base substitution A C intron_variant ESAD-UK 12 131152916 131152916 single base substitution A G intron_variant ESAD-UK 12 131153142 131153142 single base substitution C T intron_variant ESAD-UK 12 131153222 131153222 single base substitution G A intron_variant ESAD-UK 12 131154478 131154478 single base substitution C G intron_variant ESAD-UK 12 131154913 131154913 single base substitution G T intron_variant ESAD-UK 12 131155735 131155735 deletion of <=200bp A - intron_variant ESAD-UK 12 131155928 131155928 single base substitution C T intron_variant ESAD-UK 12 131155935 131155935 single base substitution G A intron_variant ESAD-UK 12 131156454 131156454 single base substitution A C intron_variant ESAD-UK 12 131156557 131156557 single base substitution A C intron_variant ESAD-UK 12 131156593 131156593 single base substitution G A intron_variant ESAD-UK 12 131156982 131156982 single base substitution T G intron_variant ESAD-UK 12 131157361 131157361 single base substitution A C intron_variant ESAD-UK 12 131157657 131157657 single base substitution G A intron_variant ESAD-UK 12 131157942 131157942 single base substitution A G intron_variant ESAD-UK 12 131158357 131158357 single base substitution A T intron_variant ESAD-UK 12 131158378 131158378 single base substitution G C intron_variant ESAD-UK 12 131158852 131158852 single base substitution C T intron_variant ESAD-UK 12 131159309 131159309 single base substitution C T intron_variant ESAD-UK 12 131159658 131159658 single base substitution C T intron_variant ESAD-UK 12 131160726 131160726 single base substitution T G intron_variant ESAD-UK 12 131161107 131161107 single base substitution G T intron_variant ESAD-UK 12 131161652 131161652 single base substitution A T intron_variant ESAD-UK 12 131161845 131161845 single base substitution C T intron_variant ESAD-UK 12 131161855 131161855 single base substitution T A intron_variant ESAD-UK 12 131161976 131161976 single base substitution C T intron_variant ESAD-UK 12 131162186 131162186 deletion of <=200bp A - intron_variant ESAD-UK 12 131162315 131162315 single base substitution G A intron_variant ESAD-UK 12 131162537 131162537 deletion of <=200bp A - intron_variant ESAD-UK 12 131162651 131162651 single base substitution A C intron_variant ESAD-UK 12 131163116 131163116 single base substitution G A intron_variant ESAD-UK 12 131163210 131163210 single base substitution G A intron_variant ESAD-UK 12 131163468 131163468 single base substitution G A intron_variant ESAD-UK 12 131164697 131164697 single base substitution G C intron_variant ESAD-UK 12 131165140 131165140 single base substitution C T intron_variant ESAD-UK 12 131165771 131165771 single base substitution T G intron_variant ESAD-UK 12 131166287 131166287 single base substitution T C intron_variant ESAD-UK 12 131167773 131167773 single base substitution G A intron_variant ESAD-UK 12 131167912 131167912 single base substitution T G intron_variant ESAD-UK 12 131168232 131168232 single base substitution A G intron_variant ESAD-UK 12 131168274 131168274 single base substitution T G intron_variant ESAD-UK 12 131169670 131169670 single base substitution T C intron_variant ESAD-UK 12 131169911 131169911 single base substitution A C intron_variant ESAD-UK 12 131170131 131170131 single base substitution A C intron_variant ESAD-UK 12 131170762 131170762 single base substitution A G intron_variant ESAD-UK 12 131170863 131170863 single base substitution T C intron_variant ESAD-UK 12 131170922 131170922 single base substitution A T intron_variant ESAD-UK 12 131171541 131171541 single base substitution G C intron_variant ESAD-UK 12 131172258 131172258 single base substitution G A intron_variant ESAD-UK 12 131172262 131172262 single base substitution C G intron_variant ESAD-UK 12 131173079 131173079 single base substitution G T intron_variant ESAD-UK 12 131173928 131173928 single base substitution A C intron_variant ESAD-UK 12 131173958 131173958 single base substitution A C intron_variant ESAD-UK 12 131174036 131174036 single base substitution G A intron_variant ESAD-UK 12 131174326 131174326 single base substitution C G intron_variant ESAD-UK 12 131175340 131175340 single base substitution A C intron_variant ESAD-UK 12 131176180 131176180 single base substitution C T intron_variant ESAD-UK 12 131176190 131176190 single base substitution T C intron_variant ESAD-UK 12 131176747 131176747 single base substitution A C intron_variant ESAD-UK 12 131177392 131177392 single base substitution G A intron_variant ESAD-UK 12 131177395 131177395 single base substitution A G intron_variant ESAD-UK 12 131177440 131177440 single base substitution A G intron_variant ESAD-UK 12 131177442 131177442 single base substitution A T intron_variant ESAD-UK 12 131177857 131177857 single base substitution T G intron_variant ESAD-UK 12 131178197 131178197 single base substitution A T intron_variant ESAD-UK 12 131178332 131178332 single base substitution C T intron_variant ESAD-UK 12 131179125 131179125 single base substitution C T intron_variant ESAD-UK 12 131179334 131179334 single base substitution C A intron_variant ESAD-UK 12 131179682 131179682 single base substitution T G intron_variant ESAD-UK 12 131180065 131180065 single base substitution T C intron_variant ESAD-UK 12 131180212 131180212 single base substitution C A intron_variant ESAD-UK 12 131180464 131180464 single base substitution T C intron_variant ESAD-UK 12 131180491 131180491 single base substitution A C intron_variant ESAD-UK 12 131180563 131180563 single base substitution A G intron_variant ESAD-UK 12 131180702 131180702 single base substitution T G intron_variant ESAD-UK 12 131181084 131181084 single base substitution A C intron_variant ESAD-UK 12 131181434 131181434 single base substitution A C intron_variant ESAD-UK 12 131181434 131181434 single base substitution A G intron_variant ESAD-UK 12 131182969 131182969 single base substitution A G intron_variant ESAD-UK 12 131184509 131184509 single base substitution T C intron_variant ESAD-UK 12 131184778 131184778 single base substitution G T intron_variant ESAD-UK 12 131185001 131185001 single base substitution A C intron_variant ESAD-UK 12 131185781 131185781 single base substitution C T intron_variant ESAD-UK 12 131187674 131187674 single base substitution T C intron_variant ESAD-UK 12 131187737 131187737 single base substitution G T intron_variant ESAD-UK 12 131188196 131188196 single base substitution G T intron_variant ESAD-UK 12 131188363 131188363 insertion of <=200bp - AG intron_variant ESAD-UK 12 131189070 131189070 single base substitution A G intron_variant ESAD-UK 12 131190907 131190907 single base substitution A C intron_variant ESAD-UK 12 131191204 131191204 single base substitution C A intron_variant ESAD-UK 12 131192486 131192486 single base substitution A T intron_variant ESAD-UK 12 131192614 131192614 single base substitution G A intron_variant ESAD-UK 12 131192643 131192643 single base substitution C A intron_variant ESAD-UK 12 131192889 131192889 single base substitution C T intron_variant ESAD-UK 12 131193728 131193728 single base substitution T A intron_variant ESAD-UK 12 131194246 131194246 single base substitution A T intron_variant ESAD-UK 12 131194404 131194404 single base substitution T A intron_variant ESAD-UK 12 131195798 131195798 single base substitution A C intron_variant ESAD-UK 12 131195906 131195906 single base substitution G A intron_variant ESAD-UK 12 131197263 131197263 single base substitution C T intron_variant ESAD-UK 12 131197358 131197358 single base substitution A G intron_variant ESAD-UK 12 131197494 131197494 single base substitution G A intron_variant ESAD-UK 12 131198041 131198041 single base substitution A T intron_variant ESAD-UK 12 131198152 131198152 single base substitution G T intron_variant ESAD-UK 12 131198234 131198234 single base substitution G A intron_variant ESAD-UK 12 131198785 131198785 single base substitution G T intron_variant ESAD-UK 12 131199008 131199008 single base substitution C T intron_variant ESAD-UK 12 131199146 131199146 single base substitution G A intron_variant ESAD-UK 12 131199163 131199163 single base substitution C A intron_variant ESAD-UK 12 131199284 131199284 single base substitution C T intron_variant ESAD-UK 12 131199367 131199367 single base substitution A C intron_variant ESAD-UK 12 131200049 131200049 single base substitution C T intron_variant ESAD-UK 12 131201094 131201094 single base substitution G A upstream_gene_variant ESAD-UK 12 131201157 131201157 single base substitution C T upstream_gene_variant ESAD-UK 12 131201533 131201533 single base substitution C A upstream_gene_variant ESAD-UK 12 131201961 131201961 single base substitution A T upstream_gene_variant ESAD-UK 12 131202693 131202693 single base substitution G T upstream_gene_variant ESAD-UK 12 131203115 131203115 single base substitution A T upstream_gene_variant ESAD-UK 12 131203540 131203540 single base substitution A G upstream_gene_variant ESAD-UK 12 131203613 131203613 single base substitution C T upstream_gene_variant ESAD-UK 12 131204292 131204292 single base substitution A C upstream_gene_variant ESAD-UK 12 131204311 131204311 single base substitution C T upstream_gene_variant ESAD-UK 12 131205489 131205489 single base substitution G T upstream_gene_variant ESAD-UK 12 131205679 131205679 single base substitution A C upstream_gene_variant ESCA-CN 12 130880558 130880558 single base substitution G A downstream_gene_variant ESCA-CN 12 130881828 130881828 single base substitution A C 3_prime_UTR_variant ESCA-CN 12 130881828 130881828 single base substitution A C downstream_gene_variant ESCA-CN 12 130921743 130921743 single base substitution G A missense_variant L475F 1423C>T ESCA-CN 12 130921743 130921743 single base substitution G A missense_variant L567F 1699C>T ESCA-CN 12 130926483 130926483 single base substitution G A synonymous_variant L363L 1087C>T ESCA-CN 12 130926483 130926483 single base substitution G A synonymous_variant L455L 1363C>T ESCA-CN 12 130929676 130929676 single base substitution G A intron_variant ESCA-CN 12 130934743 130934743 single base substitution A T splice_donor_variant ESCA-CN 12 130941162 130941162 single base substitution C T 5_prime_UTR_variant ESCA-CN 12 130941162 130941162 single base substitution C T synonymous_variant R62R 186G>A GBM-US 12 130898833 130898833 single base substitution C T 5_prime_UTR_variant GBM-US 12 130898833 130898833 single base substitution C T missense_variant R830H 2489G>A GBM-US 12 130907060 130907060 single base substitution C T missense_variant R803Q 2408G>A GBM-US 12 130921520 130921520 single base substitution G A missense_variant P549L 1646C>T GBM-US 12 130921520 130921520 single base substitution G A missense_variant P641L 1922C>T GBM-US 12 130926697 130926697 single base substitution C T synonymous_variant T291T 873G>A GBM-US 12 130926697 130926697 single base substitution C T synonymous_variant T383T 1149G>A GBM-US 12 130927081 130927081 single base substitution G A synonymous_variant S163S 489C>T GBM-US 12 130927081 130927081 single base substitution G A synonymous_variant S255S 765C>T GBM-US 12 130927111 130927111 single base substitution G A synonymous_variant N153N 459C>T GBM-US 12 130927111 130927111 single base substitution G A synonymous_variant N245N 735C>T GBM-US 12 130927141 130927141 single base substitution G A synonymous_variant N143N 429C>T GBM-US 12 130927141 130927141 single base substitution G A synonymous_variant N235N 705C>T GBM-US 12 130934752 130934752 single base substitution G A missense_variant R175C 523C>T GBM-US 12 130934752 130934752 single base substitution G A missense_variant R83C 247C>T GBM-US 12 130935764 130935764 single base substitution G A synonymous_variant S143S 429C>T GBM-US 12 130935764 130935764 single base substitution G A synonymous_variant S51S 153C>T KIRC-US 12 130897239 130897239 single base substitution C T missense_variant A53T 157G>A KIRC-US 12 130897239 130897239 single base substitution C T missense_variant A916T 2746G>A KIRC-US 12 130897239 130897239 single base substitution C T upstream_gene_variant KIRC-US 12 130897262 130897262 single base substitution C G missense_variant C45S 134G>C KIRC-US 12 130897262 130897262 single base substitution C G missense_variant C908S 2723G>C KIRC-US 12 130897262 130897262 single base substitution C G upstream_gene_variant KIRC-US 12 130926444 130926444 single base substitution C T missense_variant E376K 1126G>A KIRC-US 12 130926444 130926444 single base substitution C T missense_variant E468K 1402G>A KIRC-US 12 130926698 130926698 single base substitution G A missense_variant T291M 872C>T KIRC-US 12 130926698 130926698 single base substitution G A missense_variant T383M 1148C>T KIRC-US 12 130926846 130926846 single base substitution C T missense_variant V242I 724G>A KIRC-US 12 130926846 130926846 single base substitution C T missense_variant V334I 1000G>A KIRC-US 12 130935856 130935856 single base substitution C T missense_variant A113T 337G>A KIRC-US 12 130935856 130935856 single base substitution C T missense_variant A21T 61G>A KIRP-US 12 130919339 130919339 single base substitution G A synonymous_variant D622D 1866C>T KIRP-US 12 130919339 130919339 single base substitution G A synonymous_variant D714D 2142C>T KIRP-US 12 130921489 130921489 single base substitution T G synonymous_variant S559S 1677A>C KIRP-US 12 130921489 130921489 single base substitution T G synonymous_variant S651S 1953A>C KIRP-US 12 130926698 130926698 single base substitution G A missense_variant T291M 872C>T KIRP-US 12 130926698 130926698 single base substitution G A missense_variant T383M 1148C>T LAML-KR 12 130924366 130924366 single base substitution C G intron_variant LAML-KR 12 130928424 130928424 single base substitution C T intron_variant LAML-KR 12 130955079 130955079 single base substitution T C exon_variant LAML-KR 12 130955079 130955079 single base substitution T C intron_variant LAML-KR 12 130959122 130959122 single base substitution C A intron_variant LAML-KR 12 130967350 130967350 single base substitution T C intron_variant LAML-KR 12 130967391 130967391 single base substitution G C intron_variant LAML-KR 12 130967651 130967651 single base substitution A T intron_variant LAML-KR 12 131016552 131016552 single base substitution A G intron_variant LAML-KR 12 131016784 131016784 single base substitution T G intron_variant LAML-KR 12 131017064 131017064 single base substitution T G intron_variant LAML-KR 12 131017122 131017122 single base substitution A G intron_variant LAML-KR 12 131017317 131017317 single base substitution C T intron_variant LAML-KR 12 131017406 131017406 single base substitution G T intron_variant LAML-KR 12 131059718 131059718 single base substitution A C intron_variant LAML-KR 12 131059732 131059732 single base substitution T C intron_variant LAML-KR 12 131071608 131071608 single base substitution A G intron_variant LAML-KR 12 131071826 131071826 single base substitution G A intron_variant LAML-KR 12 131074621 131074621 single base substitution C T intron_variant LAML-KR 12 131155139 131155139 single base substitution G A intron_variant LGG-US 12 130898840 130898840 single base substitution G A 5_prime_UTR_variant LGG-US 12 130898840 130898840 single base substitution G A stop_gained R828* 2482C>T LGG-US 12 130919389 130919389 single base substitution C T missense_variant A606T 1816G>A LGG-US 12 130919389 130919389 single base substitution C T missense_variant A698T 2092G>A LGG-US 12 130921520 130921520 single base substitution G A missense_variant P549L 1646C>T LGG-US 12 130921520 130921520 single base substitution G A missense_variant P641L 1922C>T LGG-US 12 130927121 130927121 single base substitution G A missense_variant T150M 449C>T LGG-US 12 130927121 130927121 single base substitution G A missense_variant T242M 725C>T LIAD-FR 12 130921785 130921785 single base substitution G T synonymous_variant R461R 1381C>A LIAD-FR 12 130921785 130921785 single base substitution G T synonymous_variant R553R 1657C>A LICA-CN 12 130907016 130907016 single base substitution C T missense_variant V818M 2452G>A LICA-CN 12 130907050 130907050 single base substitution G A synonymous_variant P806P 2418C>T LICA-CN 12 130921793 130921793 single base substitution T A missense_variant E458V 1373A>T LICA-CN 12 130921793 130921793 single base substitution T A missense_variant E550V 1649A>T LICA-FR 12 130876668 130876668 single base substitution G A downstream_gene_variant LICA-FR 12 130876703 130876703 single base substitution G A downstream_gene_variant LICA-FR 12 130876727 130876727 single base substitution G A downstream_gene_variant LICA-FR 12 130876730 130876730 single base substitution C G downstream_gene_variant LICA-FR 12 130876854 130876854 single base substitution G A downstream_gene_variant LICA-FR 12 130876900 130876900 single base substitution T G downstream_gene_variant LICA-FR 12 130876945 130876945 single base substitution A G downstream_gene_variant LICA-FR 12 130877183 130877183 single base substitution A G downstream_gene_variant LICA-FR 12 130877197 130877197 single base substitution G A downstream_gene_variant LICA-FR 12 130877204 130877204 single base substitution C T downstream_gene_variant LICA-FR 12 130877319 130877319 single base substitution G T downstream_gene_variant LICA-FR 12 130877400 130877400 single base substitution C T downstream_gene_variant LICA-FR 12 130877727 130877727 single base substitution A C downstream_gene_variant LICA-FR 12 130883316 130883316 single base substitution T C 3_prime_UTR_variant LICA-FR 12 130883316 130883316 single base substitution T C downstream_gene_variant LICA-FR 12 130883316 130883316 single base substitution T C intron_variant LICA-FR 12 130883467 130883467 single base substitution C G 3_prime_UTR_variant LICA-FR 12 130883467 130883467 single base substitution C G downstream_gene_variant LICA-FR 12 130883467 130883467 single base substitution C G intron_variant LICA-FR 12 130892318 130892318 single base substitution G A exon_variant LICA-FR 12 130892318 130892318 single base substitution G A synonymous_variant L960L 2878C>T LICA-FR 12 130892318 130892318 single base substitution G A synonymous_variant L97L 289C>T LICA-FR 12 130905874 130905874 single base substitution T A intron_variant LICA-FR 12 130912838 130912838 single base substitution C T downstream_gene_variant LICA-FR 12 130912838 130912838 single base substitution C T synonymous_variant R749R 2247G>A LICA-FR 12 130914923 130914923 single base substitution A G downstream_gene_variant LICA-FR 12 130914923 130914923 single base substitution A G intron_variant LICA-FR 12 130919285 130919285 single base substitution G T synonymous_variant G640G 1920C>A LICA-FR 12 130919285 130919285 single base substitution G T synonymous_variant G732G 2196C>A LICA-FR 12 130919596 130919596 insertion of <=200bp - T intron_variant LICA-FR 12 130926668 130926668 single base substitution G A missense_variant A301V 902C>T LICA-FR 12 130926668 130926668 single base substitution G A missense_variant A393V 1178C>T LICA-FR 12 130926715 130926715 single base substitution C T synonymous_variant S285S 855G>A LICA-FR 12 130926715 130926715 single base substitution C T synonymous_variant S377S 1131G>A LICA-FR 12 130926724 130926724 single base substitution C T synonymous_variant R282R 846G>A LICA-FR 12 130926724 130926724 single base substitution C T synonymous_variant R374R 1122G>A LICA-FR 12 130927135 130927135 single base substitution C T synonymous_variant S145S 435G>A LICA-FR 12 130927135 130927135 single base substitution C T synonymous_variant S237S 711G>A LICA-FR 12 130930434 130930434 single base substitution A G intron_variant LICA-FR 12 130931290 130931290 single base substitution T A intron_variant LICA-FR 12 130938143 130938143 single base substitution A T intron_variant LICA-FR 12 130941116 130941116 single base substitution G A 5_prime_UTR_variant LICA-FR 12 130941116 130941116 single base substitution G A missense_variant P78S 232C>T LICA-FR 12 130941180 130941180 single base substitution C T 5_prime_UTR_variant LICA-FR 12 130941180 130941180 single base substitution C T synonymous_variant R56R 168G>A LICA-FR 12 130944095 130944095 single base substitution T C intron_variant LICA-FR 12 130952310 130952310 single base substitution T C downstream_gene_variant LICA-FR 12 130952310 130952310 single base substitution T C intron_variant LICA-FR 12 130956125 130956125 single base substitution C A intron_variant LICA-FR 12 130956670 130956670 single base substitution G T 5_prime_UTR_variant LICA-FR 12 130956670 130956670 single base substitution G T intron_variant LICA-FR 12 130964744 130964744 insertion of <=200bp - ACACAC intron_variant LICA-FR 12 130965598 130965598 single base substitution G C intron_variant LICA-FR 12 130967277 130967277 single base substitution C A intron_variant LICA-FR 12 130967391 130967391 single base substitution G C intron_variant LICA-FR 12 130967403 130967403 single base substitution A T intron_variant LICA-FR 12 130967587 130967587 single base substitution A C intron_variant LICA-FR 12 130967836 130967836 single base substitution A G intron_variant LICA-FR 12 130971989 130971989 single base substitution C T intron_variant LICA-FR 12 130985268 130985268 single base substitution A T intron_variant LICA-FR 12 131008301 131008301 single base substitution C T intron_variant LICA-FR 12 131036023 131036023 single base substitution T C intron_variant LICA-FR 12 131042230 131042230 single base substitution A G intron_variant LICA-FR 12 131051570 131051570 single base substitution G A intron_variant LICA-FR 12 131057962 131057962 single base substitution T C intron_variant LICA-FR 12 131071443 131071443 single base substitution A C intron_variant LICA-FR 12 131073536 131073536 single base substitution A T intron_variant LICA-FR 12 131082085 131082085 single base substitution C A intron_variant LICA-FR 12 131082533 131082533 single base substitution T C intron_variant LICA-FR 12 131091252 131091252 single base substitution T C intron_variant LICA-FR 12 131093684 131093684 single base substitution G A intron_variant LICA-FR 12 131098264 131098264 single base substitution C T intron_variant LICA-FR 12 131101579 131101579 single base substitution C G intron_variant LICA-FR 12 131123929 131123929 insertion of <=200bp - AA intron_variant LICA-FR 12 131135569 131135569 single base substitution T C intron_variant LICA-FR 12 131148940 131148940 single base substitution A G intron_variant LICA-FR 12 131183439 131183439 single base substitution A G intron_variant LICA-FR 12 131202175 131202175 single base substitution G T upstream_gene_variant LICA-FR 12 131203742 131203742 insertion of <=200bp - A upstream_gene_variant LICA-FR 12 131204776 131204776 single base substitution C T upstream_gene_variant LIHC-US 12 130927134 130927134 single base substitution G T synonymous_variant R146R 436C>A LIHC-US 12 130927134 130927134 single base substitution G T synonymous_variant R238R 712C>A LIHC-US 12 130935855 130935855 single base substitution G A missense_variant A113V 338C>T LIHC-US 12 130935855 130935855 single base substitution G A missense_variant A21V 62C>T LINC-JP 12 130881516 130881516 single base substitution T C 3_prime_UTR_variant LINC-JP 12 130881516 130881516 single base substitution T C downstream_gene_variant LINC-JP 12 130886012 130886012 single base substitution C T intron_variant LINC-JP 12 130887168 130887168 single base substitution C T intron_variant LINC-JP 12 130892629 130892629 single base substitution C A intron_variant LINC-JP 12 130892629 130892629 single base substitution C A upstream_gene_variant LINC-JP 12 130907376 130907376 single base substitution C T intron_variant LINC-JP 12 130912756 130912756 single base substitution G T downstream_gene_variant LINC-JP 12 130912756 130912756 single base substitution G T synonymous_variant R777R 2329C>A LINC-JP 12 130913636 130913636 single base substitution C A downstream_gene_variant LINC-JP 12 130913636 130913636 single base substitution C A intron_variant LINC-JP 12 130919155 130919155 single base substitution C A intron_variant LINC-JP 12 130919580 130919580 single base substitution C G intron_variant LINC-JP 12 130921773 130921773 single base substitution G T missense_variant L465M 1393C>A LINC-JP 12 130921773 130921773 single base substitution G T missense_variant L557M 1669C>A LINC-JP 12 130921774 130921774 single base substitution G T missense_variant S464R 1392C>A LINC-JP 12 130921774 130921774 single base substitution G T missense_variant S556R 1668C>A LINC-JP 12 130921819 130921819 single base substitution G A synonymous_variant F449F 1347C>T LINC-JP 12 130921819 130921819 single base substitution G A synonymous_variant F541F 1623C>T LINC-JP 12 130922870 130922870 single base substitution G A intron_variant LINC-JP 12 130926957 130926957 single base substitution C A missense_variant V205L 613G>T LINC-JP 12 130926957 130926957 single base substitution C A missense_variant V297L 889G>T LINC-JP 12 130934444 130934444 single base substitution G A intron_variant LINC-JP 12 130934820 130934820 single base substitution A G missense_variant M152T 455T>C LINC-JP 12 130934820 130934820 single base substitution A G missense_variant M60T 179T>C LINC-JP 12 130936030 130936030 single base substitution G A intron_variant LINC-JP 12 130937443 130937443 single base substitution A G intron_variant LINC-JP 12 130940898 130940898 single base substitution T A intron_variant LINC-JP 12 130949857 130949857 single base substitution A T downstream_gene_variant LINC-JP 12 130949857 130949857 single base substitution A T intron_variant LINC-JP 12 130953491 130953491 single base substitution G A downstream_gene_variant LINC-JP 12 130953491 130953491 single base substitution G A intron_variant LINC-JP 12 130954053 130954053 single base substitution T C downstream_gene_variant LINC-JP 12 130954053 130954053 single base substitution T C intron_variant LINC-JP 12 130963600 130963600 single base substitution C T intron_variant LINC-JP 12 130985553 130985553 single base substitution C T intron_variant LINC-JP 12 130988382 130988382 single base substitution A T intron_variant LINC-JP 12 130991538 130991538 single base substitution A G intron_variant LINC-JP 12 130991538 130991538 single base substitution A G upstream_gene_variant LINC-JP 12 131005064 131005064 single base substitution A C intron_variant LINC-JP 12 131005064 131005064 single base substitution A C upstream_gene_variant LINC-JP 12 131007334 131007334 single base substitution T C intron_variant LINC-JP 12 131007334 131007334 single base substitution T C upstream_gene_variant LINC-JP 12 131011639 131011639 single base substitution G T intron_variant LINC-JP 12 131026997 131026997 single base substitution A G intron_variant LINC-JP 12 131027263 131027263 single base substitution C G intron_variant LINC-JP 12 131029875 131029875 single base substitution C A intron_variant LINC-JP 12 131030227 131030227 single base substitution G A intron_variant LINC-JP 12 131030522 131030522 single base substitution C T intron_variant LINC-JP 12 131031702 131031702 single base substitution G T intron_variant LINC-JP 12 131032418 131032418 single base substitution C T intron_variant LINC-JP 12 131036106 131036106 single base substitution C T intron_variant LINC-JP 12 131047011 131047011 single base substitution G A intron_variant LINC-JP 12 131057195 131057195 single base substitution C A intron_variant LINC-JP 12 131061376 131061376 single base substitution C T intron_variant LINC-JP 12 131061885 131061885 single base substitution T C intron_variant LINC-JP 12 131067515 131067515 single base substitution G A intron_variant LINC-JP 12 131079229 131079229 insertion of <=200bp - G intron_variant LINC-JP 12 131083537 131083537 single base substitution C A intron_variant LINC-JP 12 131084212 131084212 single base substitution T C intron_variant LINC-JP 12 131089831 131089831 single base substitution A G intron_variant LINC-JP 12 131093094 131093094 single base substitution C A intron_variant LINC-JP 12 131096776 131096776 single base substitution G T intron_variant LINC-JP 12 131098515 131098515 single base substitution G T intron_variant LINC-JP 12 131099844 131099844 single base substitution G A intron_variant LINC-JP 12 131102598 131102598 single base substitution G A intron_variant LINC-JP 12 131103540 131103540 single base substitution T C intron_variant LINC-JP 12 131114134 131114134 single base substitution T A intron_variant LINC-JP 12 131121153 131121153 single base substitution A G intron_variant LINC-JP 12 131127083 131127083 single base substitution G T intron_variant LINC-JP 12 131144971 131144971 single base substitution T A intron_variant LINC-JP 12 131145279 131145279 single base substitution T C intron_variant LINC-JP 12 131149537 131149537 single base substitution C A intron_variant LINC-JP 12 131152933 131152933 single base substitution G A intron_variant LINC-JP 12 131153167 131153167 single base substitution C G intron_variant LINC-JP 12 131154395 131154395 single base substitution A T intron_variant LINC-JP 12 131170777 131170777 single base substitution G T intron_variant LINC-JP 12 131171668 131171668 single base substitution G A intron_variant LINC-JP 12 131176326 131176326 single base substitution C T intron_variant LINC-JP 12 131177318 131177318 single base substitution A C intron_variant LINC-JP 12 131194350 131194350 single base substitution G A intron_variant LINC-JP 12 131194824 131194824 single base substitution C T intron_variant LINC-JP 12 131198569 131198569 single base substitution C T intron_variant LINC-JP 12 131200227 131200227 single base substitution C G intron_variant LINC-JP 12 131205593 131205593 single base substitution C A upstream_gene_variant LIRI-JP 12 130880262 130880262 single base substitution C A downstream_gene_variant LIRI-JP 12 130880898 130880898 deletion of <=200bp A - 3_prime_UTR_variant LIRI-JP 12 130880898 130880898 deletion of <=200bp A - downstream_gene_variant LIRI-JP 12 130880972 130880972 single base substitution G T 3_prime_UTR_variant LIRI-JP 12 130880972 130880972 single base substitution G T downstream_gene_variant LIRI-JP 12 130882710 130882710 single base substitution A G 3_prime_UTR_variant LIRI-JP 12 130882710 130882710 single base substitution A G downstream_gene_variant LIRI-JP 12 130882710 130882710 single base substitution A G intron_variant LIRI-JP 12 130882711 130882711 single base substitution G T 3_prime_UTR_variant LIRI-JP 12 130882711 130882711 single base substitution G T downstream_gene_variant LIRI-JP 12 130882711 130882711 single base substitution G T intron_variant LIRI-JP 12 130884346 130884346 single base substitution C T 3_prime_UTR_variant LIRI-JP 12 130884346 130884346 single base substitution C T missense_variant G1004R 3010G>A LIRI-JP 12 130884346 130884346 single base substitution C T missense_variant G141R 421G>A LIRI-JP 12 130884716 130884716 single base substitution C T intron_variant LIRI-JP 12 130884821 130884821 single base substitution C A intron_variant LIRI-JP 12 130886219 130886219 single base substitution T C intron_variant LIRI-JP 12 130886729 130886729 single base substitution G A intron_variant LIRI-JP 12 130887558 130887558 single base substitution G T intron_variant LIRI-JP 12 130888991 130888991 single base substitution T C intron_variant LIRI-JP 12 130890413 130890413 single base substitution T C intron_variant LIRI-JP 12 130891023 130891023 single base substitution G T intron_variant LIRI-JP 12 130891037 130891037 single base substitution T C intron_variant LIRI-JP 12 130893927 130893927 single base substitution G C intron_variant LIRI-JP 12 130893927 130893927 single base substitution G C upstream_gene_variant LIRI-JP 12 130894651 130894651 single base substitution C T intron_variant LIRI-JP 12 130894651 130894651 single base substitution C T upstream_gene_variant LIRI-JP 12 130894720 130894720 single base substitution A T intron_variant LIRI-JP 12 130894720 130894720 single base substitution A T upstream_gene_variant LIRI-JP 12 130896230 130896230 single base substitution T C intron_variant LIRI-JP 12 130896230 130896230 single base substitution T C upstream_gene_variant LIRI-JP 12 130896593 130896593 single base substitution G A intron_variant LIRI-JP 12 130896593 130896593 single base substitution G A upstream_gene_variant LIRI-JP 12 130897178 130897178 single base substitution G A missense_variant P73L 218C>T LIRI-JP 12 130897178 130897178 single base substitution G A missense_variant P936L 2807C>T LIRI-JP 12 130897178 130897178 single base substitution G A upstream_gene_variant LIRI-JP 12 130897432 130897432 single base substitution T C intron_variant LIRI-JP 12 130900681 130900681 single base substitution G T intron_variant LIRI-JP 12 130900681 130900681 single base substitution G T upstream_gene_variant LIRI-JP 12 130900854 130900854 single base substitution A G intron_variant LIRI-JP 12 130900854 130900854 single base substitution A G upstream_gene_variant LIRI-JP 12 130901437 130901437 single base substitution G A intron_variant LIRI-JP 12 130901437 130901437 single base substitution G A upstream_gene_variant LIRI-JP 12 130902033 130902033 single base substitution A T intron_variant LIRI-JP 12 130902033 130902033 single base substitution A T upstream_gene_variant LIRI-JP 12 130902418 130902418 single base substitution A G intron_variant LIRI-JP 12 130902418 130902418 single base substitution A G upstream_gene_variant LIRI-JP 12 130903993 130903993 single base substitution C A intron_variant LIRI-JP 12 130903993 130903993 single base substitution C A upstream_gene_variant LIRI-JP 12 130904284 130904284 single base substitution G A intron_variant LIRI-JP 12 130904873 130904873 single base substitution A G intron_variant LIRI-JP 12 130906453 130906453 single base substitution G T intron_variant LIRI-JP 12 130906879 130906879 single base substitution A G intron_variant LIRI-JP 12 130906888 130906888 single base substitution C A intron_variant LIRI-JP 12 130907478 130907478 single base substitution C T intron_variant LIRI-JP 12 130907901 130907901 single base substitution C A intron_variant LIRI-JP 12 130908256 130908256 single base substitution A G intron_variant LIRI-JP 12 130908280 130908280 single base substitution A T intron_variant LIRI-JP 12 130911194 130911194 single base substitution C T downstream_gene_variant LIRI-JP 12 130911194 130911194 single base substitution C T intron_variant LIRI-JP 12 130911490 130911490 single base substitution G A downstream_gene_variant LIRI-JP 12 130911490 130911490 single base substitution G A intron_variant LIRI-JP 12 130914427 130914427 single base substitution C A downstream_gene_variant LIRI-JP 12 130914427 130914427 single base substitution C A intron_variant LIRI-JP 12 130914782 130914782 single base substitution G C downstream_gene_variant LIRI-JP 12 130914782 130914782 single base substitution G C intron_variant LIRI-JP 12 130917088 130917088 single base substitution T A intron_variant LIRI-JP 12 130917387 130917387 single base substitution A G intron_variant LIRI-JP 12 130917590 130917590 single base substitution C T intron_variant LIRI-JP 12 130917757 130917757 single base substitution A T intron_variant LIRI-JP 12 130918323 130918323 single base substitution G C intron_variant LIRI-JP 12 130919102 130919102 single base substitution A G intron_variant LIRI-JP 12 130922065 130922065 single base substitution C T intron_variant LIRI-JP 12 130922144 130922144 single base substitution T G intron_variant LIRI-JP 12 130923592 130923592 single base substitution T A intron_variant LIRI-JP 12 130926358 130926358 single base substitution T C intron_variant LIRI-JP 12 130929090 130929090 single base substitution G A intron_variant LIRI-JP 12 130930648 130930648 single base substitution T A intron_variant LIRI-JP 12 130930733 130930733 single base substitution C G intron_variant LIRI-JP 12 130933526 130933526 single base substitution C T intron_variant LIRI-JP 12 130933841 130933841 single base substitution C A intron_variant LIRI-JP 12 130934389 130934389 single base substitution C A intron_variant LIRI-JP 12 130935929 130935929 single base substitution A C intron_variant LIRI-JP 12 130936311 130936311 single base substitution G A intron_variant LIRI-JP 12 130936872 130936872 deletion of <=200bp A - intron_variant LIRI-JP 12 130938231 130938231 single base substitution G T intron_variant LIRI-JP 12 130938465 130938465 single base substitution G A intron_variant LIRI-JP 12 130938847 130938847 single base substitution T A intron_variant LIRI-JP 12 130939589 130939589 single base substitution C A intron_variant LIRI-JP 12 130939815 130939815 single base substitution G T intron_variant LIRI-JP 12 130939816 130939816 single base substitution C T intron_variant LIRI-JP 12 130940898 130940898 single base substitution T C intron_variant LIRI-JP 12 130942076 130942076 single base substitution G C intron_variant LIRI-JP 12 130942077 130942077 single base substitution G A intron_variant LIRI-JP 12 130944570 130944570 single base substitution G A intron_variant LIRI-JP 12 130946537 130946538 deletion of <=200bp TA - intron_variant LIRI-JP 12 130946997 130946997 single base substitution A G intron_variant LIRI-JP 12 130949741 130949741 single base substitution C A intron_variant LIRI-JP 12 130951981 130951981 single base substitution G T downstream_gene_variant LIRI-JP 12 130951981 130951981 single base substitution G T intron_variant LIRI-JP 12 130953104 130953104 single base substitution C A downstream_gene_variant LIRI-JP 12 130953104 130953104 single base substitution C A intron_variant LIRI-JP 12 130953104 130953104 single base substitution C T downstream_gene_variant LIRI-JP 12 130953104 130953104 single base substitution C T intron_variant LIRI-JP 12 130954127 130954127 single base substitution C A downstream_gene_variant LIRI-JP 12 130954127 130954127 single base substitution C A intron_variant LIRI-JP 12 130955255 130955255 single base substitution C A 5_prime_UTR_variant LIRI-JP 12 130955255 130955255 single base substitution C A exon_variant LIRI-JP 12 130955255 130955255 single base substitution C A intron_variant LIRI-JP 12 130955320 130955320 single base substitution A G intron_variant LIRI-JP 12 130955354 130955354 single base substitution T C intron_variant LIRI-JP 12 130955479 130955479 single base substitution A G intron_variant LIRI-JP 12 130957272 130957272 single base substitution C T intron_variant LIRI-JP 12 130957548 130957548 single base substitution A G intron_variant LIRI-JP 12 130957558 130957558 single base substitution C T intron_variant LIRI-JP 12 130958029 130958029 single base substitution T A intron_variant LIRI-JP 12 130958482 130958482 insertion of <=200bp - C intron_variant LIRI-JP 12 130959759 130959759 single base substitution A G intron_variant LIRI-JP 12 130960766 130960766 single base substitution A C intron_variant LIRI-JP 12 130962670 130962670 single base substitution C T intron_variant LIRI-JP 12 130964204 130964204 single base substitution G T intron_variant LIRI-JP 12 130964226 130964226 single base substitution G A intron_variant LIRI-JP 12 130964576 130964576 single base substitution G A intron_variant LIRI-JP 12 130965619 130965619 single base substitution C G intron_variant LIRI-JP 12 130968612 130968612 single base substitution G C intron_variant LIRI-JP 12 130970133 130970133 single base substitution T C intron_variant LIRI-JP 12 130970884 130970884 single base substitution A T intron_variant LIRI-JP 12 130970958 130970958 single base substitution T C intron_variant LIRI-JP 12 130971313 130971313 single base substitution T C intron_variant LIRI-JP 12 130971803 130971803 single base substitution C A intron_variant LIRI-JP 12 130972134 130972134 single base substitution C T intron_variant LIRI-JP 12 130972555 130972555 single base substitution T C intron_variant LIRI-JP 12 130972755 130972755 single base substitution T G intron_variant LIRI-JP 12 130974062 130974062 single base substitution T A intron_variant LIRI-JP 12 130974410 130974410 single base substitution A G intron_variant LIRI-JP 12 130974634 130974634 single base substitution A G intron_variant LIRI-JP 12 130975572 130975572 single base substitution T C intron_variant LIRI-JP 12 130975970 130975970 single base substitution T C intron_variant LIRI-JP 12 130976082 130976082 single base substitution G A intron_variant LIRI-JP 12 130976299 130976299 single base substitution C T intron_variant LIRI-JP 12 130977589 130977589 single base substitution G A intron_variant LIRI-JP 12 130978006 130978006 single base substitution T C intron_variant LIRI-JP 12 130979260 130979260 single base substitution G A intron_variant LIRI-JP 12 130979741 130979741 single base substitution A C intron_variant LIRI-JP 12 130979874 130979874 single base substitution C T intron_variant LIRI-JP 12 130981008 130981008 single base substitution T C intron_variant LIRI-JP 12 130983045 130983045 single base substitution G A intron_variant LIRI-JP 12 130984691 130984691 single base substitution C T intron_variant LIRI-JP 12 130985048 130985048 single base substitution G T intron_variant LIRI-JP 12 130985157 130985157 single base substitution A G intron_variant LIRI-JP 12 130985259 130985259 single base substitution A T intron_variant LIRI-JP 12 130985443 130985443 single base substitution T C intron_variant LIRI-JP 12 130985480 130985480 single base substitution G T intron_variant LIRI-JP 12 130986544 130986544 single base substitution G T intron_variant LIRI-JP 12 130986629 130986629 single base substitution C T intron_variant LIRI-JP 12 130987200 130987200 single base substitution T C intron_variant LIRI-JP 12 130987391 130987391 single base substitution G T intron_variant LIRI-JP 12 130987529 130987529 single base substitution G C intron_variant LIRI-JP 12 130988089 130988089 single base substitution T A intron_variant LIRI-JP 12 130988753 130988753 single base substitution T A intron_variant LIRI-JP 12 130988814 130988814 single base substitution G T intron_variant LIRI-JP 12 130989315 130989315 single base substitution G A intron_variant LIRI-JP 12 130990864 130990864 single base substitution G A intron_variant LIRI-JP 12 130992082 130992082 single base substitution A T intron_variant LIRI-JP 12 130992082 130992082 single base substitution A T upstream_gene_variant LIRI-JP 12 130992236 130992236 single base substitution G T intron_variant LIRI-JP 12 130992236 130992236 single base substitution G T upstream_gene_variant LIRI-JP 12 130993326 130993326 single base substitution G T intron_variant LIRI-JP 12 130993326 130993326 single base substitution G T upstream_gene_variant LIRI-JP 12 130993425 130993425 single base substitution G A intron_variant LIRI-JP 12 130993425 130993425 single base substitution G A upstream_gene_variant LIRI-JP 12 130993474 130993474 single base substitution C A intron_variant LIRI-JP 12 130993474 130993474 single base substitution C A upstream_gene_variant LIRI-JP 12 130995036 130995036 single base substitution T A intron_variant LIRI-JP 12 130995036 130995036 single base substitution T A upstream_gene_variant LIRI-JP 12 130995335 130995335 single base substitution C T intron_variant LIRI-JP 12 130995335 130995335 single base substitution C T upstream_gene_variant LIRI-JP 12 130995432 130995432 single base substitution T C intron_variant LIRI-JP 12 130995432 130995432 single base substitution T C upstream_gene_variant LIRI-JP 12 130995711 130995711 single base substitution A G intron_variant LIRI-JP 12 130995711 130995711 single base substitution A G upstream_gene_variant LIRI-JP 12 130996409 130996409 single base substitution G T intron_variant LIRI-JP 12 130996640 130996640 single base substitution C T intron_variant LIRI-JP 12 130998239 130998239 single base substitution A G intron_variant LIRI-JP 12 130998255 130998255 single base substitution A T intron_variant LIRI-JP 12 130998280 130998280 single base substitution A T intron_variant LIRI-JP 12 130999159 130999159 single base substitution C T intron_variant LIRI-JP 12 130999761 130999761 single base substitution A G intron_variant LIRI-JP 12 130999839 130999839 single base substitution A C intron_variant LIRI-JP 12 131000159 131000159 single base substitution C A intron_variant LIRI-JP 12 131000637 131000637 single base substitution G A intron_variant LIRI-JP 12 131001624 131001624 single base substitution G T intron_variant LIRI-JP 12 131002743 131002743 single base substitution A G intron_variant LIRI-JP 12 131002743 131002743 single base substitution A G upstream_gene_variant LIRI-JP 12 131002981 131002981 deletion of <=200bp C - intron_variant LIRI-JP 12 131002981 131002981 deletion of <=200bp C - upstream_gene_variant LIRI-JP 12 131003415 131003415 single base substitution T C intron_variant LIRI-JP 12 131003415 131003415 single base substitution T C upstream_gene_variant LIRI-JP 12 131003608 131003608 single base substitution C A intron_variant LIRI-JP 12 131003608 131003608 single base substitution C A upstream_gene_variant LIRI-JP 12 131004963 131004963 single base substitution A T intron_variant LIRI-JP 12 131004963 131004963 single base substitution A T upstream_gene_variant LIRI-JP 12 131006757 131006757 single base substitution T C intron_variant LIRI-JP 12 131006757 131006757 single base substitution T C upstream_gene_variant LIRI-JP 12 131009088 131009088 single base substitution G C intron_variant LIRI-JP 12 131009445 131009445 single base substitution A G intron_variant LIRI-JP 12 131009518 131009518 single base substitution C G intron_variant LIRI-JP 12 131009713 131009713 single base substitution G A intron_variant LIRI-JP 12 131010398 131010398 single base substitution T G intron_variant LIRI-JP 12 131011900 131011900 single base substitution T C intron_variant LIRI-JP 12 131012245 131012245 single base substitution C A intron_variant LIRI-JP 12 131015612 131015612 single base substitution A G intron_variant LIRI-JP 12 131015688 131015688 single base substitution A T intron_variant LIRI-JP 12 131016024 131016024 single base substitution G A intron_variant LIRI-JP 12 131018999 131018999 single base substitution C G intron_variant LIRI-JP 12 131019691 131019691 single base substitution G A intron_variant LIRI-JP 12 131020819 131020819 single base substitution T C intron_variant LIRI-JP 12 131020982 131020982 single base substitution G A intron_variant LIRI-JP 12 131021093 131021093 single base substitution A G intron_variant LIRI-JP 12 131021770 131021770 single base substitution T A intron_variant LIRI-JP 12 131022179 131022179 single base substitution C T intron_variant LIRI-JP 12 131024828 131024828 single base substitution G C intron_variant LIRI-JP 12 131025288 131025288 single base substitution C G intron_variant LIRI-JP 12 131025568 131025568 single base substitution C A intron_variant LIRI-JP 12 131026017 131026017 single base substitution G A intron_variant LIRI-JP 12 131026579 131026579 single base substitution C A intron_variant LIRI-JP 12 131027350 131027350 deletion of <=200bp G - intron_variant LIRI-JP 12 131028134 131028134 single base substitution G A intron_variant LIRI-JP 12 131028725 131028725 single base substitution G T intron_variant LIRI-JP 12 131031896 131031896 single base substitution T C intron_variant LIRI-JP 12 131032274 131032274 single base substitution T C intron_variant LIRI-JP 12 131034487 131034487 single base substitution T C intron_variant LIRI-JP 12 131035488 131035488 single base substitution A G intron_variant LIRI-JP 12 131037775 131037775 single base substitution C A intron_variant LIRI-JP 12 131038152 131038152 single base substitution G A intron_variant LIRI-JP 12 131039098 131039098 insertion of <=200bp - C intron_variant LIRI-JP 12 131040731 131040731 single base substitution G A intron_variant LIRI-JP 12 131040891 131040891 single base substitution A G intron_variant LIRI-JP 12 131041676 131041676 single base substitution G C intron_variant LIRI-JP 12 131042441 131042441 single base substitution G A intron_variant LIRI-JP 12 131042726 131042726 single base substitution C T intron_variant LIRI-JP 12 131043053 131043053 single base substitution C T intron_variant LIRI-JP 12 131043831 131043831 single base substitution T C intron_variant LIRI-JP 12 131045052 131045052 single base substitution G A intron_variant LIRI-JP 12 131045701 131045701 single base substitution C T intron_variant LIRI-JP 12 131045786 131045786 single base substitution G C intron_variant LIRI-JP 12 131046576 131046576 single base substitution C T intron_variant LIRI-JP 12 131047502 131047502 single base substitution T C intron_variant LIRI-JP 12 131047759 131047759 single base substitution T C intron_variant LIRI-JP 12 131048340 131048340 single base substitution C T intron_variant LIRI-JP 12 131049084 131049084 single base substitution G C intron_variant LIRI-JP 12 131049395 131049395 single base substitution T G intron_variant LIRI-JP 12 131049655 131049655 single base substitution G T intron_variant LIRI-JP 12 131050173 131050173 single base substitution A C intron_variant LIRI-JP 12 131050677 131050677 single base substitution T C intron_variant LIRI-JP 12 131050956 131050956 single base substitution T C intron_variant LIRI-JP 12 131052144 131052144 single base substitution C T intron_variant LIRI-JP 12 131052911 131052911 single base substitution C A intron_variant LIRI-JP 12 131053067 131053067 single base substitution C T intron_variant LIRI-JP 12 131053199 131053199 single base substitution C T intron_variant LIRI-JP 12 131053269 131053269 single base substitution C A intron_variant LIRI-JP 12 131054352 131054352 single base substitution C T intron_variant LIRI-JP 12 131055092 131055092 single base substitution G C intron_variant LIRI-JP 12 131055196 131055196 single base substitution T C intron_variant LIRI-JP 12 131055431 131055431 single base substitution G T intron_variant LIRI-JP 12 131055739 131055739 single base substitution G T intron_variant LIRI-JP 12 131061557 131061557 single base substitution A T intron_variant LIRI-JP 12 131062644 131062644 single base substitution T C intron_variant LIRI-JP 12 131063087 131063087 single base substitution T A intron_variant LIRI-JP 12 131063250 131063250 single base substitution G A intron_variant LIRI-JP 12 131063394 131063394 single base substitution C T intron_variant LIRI-JP 12 131064372 131064372 single base substitution A G intron_variant LIRI-JP 12 131064391 131064391 single base substitution G T intron_variant LIRI-JP 12 131065286 131065286 single base substitution A G intron_variant LIRI-JP 12 131066951 131066951 single base substitution C A intron_variant LIRI-JP 12 131067539 131067539 single base substitution T C intron_variant LIRI-JP 12 131072960 131072960 single base substitution C A intron_variant LIRI-JP 12 131073223 131073223 single base substitution G A intron_variant LIRI-JP 12 131073550 131073550 single base substitution G T intron_variant LIRI-JP 12 131073551 131073551 single base substitution G T intron_variant LIRI-JP 12 131074068 131074068 single base substitution G A intron_variant LIRI-JP 12 131074930 131074930 single base substitution G T intron_variant LIRI-JP 12 131075277 131075277 single base substitution A C intron_variant LIRI-JP 12 131078199 131078199 single base substitution T C intron_variant LIRI-JP 12 131078211 131078211 single base substitution A T intron_variant LIRI-JP 12 131078525 131078525 single base substitution T A intron_variant LIRI-JP 12 131079214 131079214 single base substitution A G intron_variant LIRI-JP 12 131079616 131079616 single base substitution T C intron_variant LIRI-JP 12 131079635 131079635 single base substitution C T intron_variant LIRI-JP 12 131081253 131081253 single base substitution T G intron_variant LIRI-JP 12 131081375 131081375 single base substitution C T intron_variant LIRI-JP 12 131081388 131081388 single base substitution T A intron_variant LIRI-JP 12 131081676 131081676 single base substitution A G intron_variant LIRI-JP 12 131082088 131082088 single base substitution G A intron_variant LIRI-JP 12 131082234 131082234 single base substitution C T intron_variant LIRI-JP 12 131083291 131083291 single base substitution G T intron_variant LIRI-JP 12 131085532 131085532 single base substitution T C intron_variant LIRI-JP 12 131086357 131086357 single base substitution A G intron_variant LIRI-JP 12 131086945 131086945 single base substitution C A intron_variant LIRI-JP 12 131087063 131087063 single base substitution T C intron_variant LIRI-JP 12 131087069 131087069 single base substitution C A intron_variant LIRI-JP 12 131087451 131087451 single base substitution G A intron_variant LIRI-JP 12 131087728 131087728 single base substitution G A intron_variant LIRI-JP 12 131087733 131087733 single base substitution C A intron_variant LIRI-JP 12 131087847 131087847 single base substitution A C intron_variant LIRI-JP 12 131088191 131088191 single base substitution G A intron_variant LIRI-JP 12 131089888 131089888 single base substitution C T intron_variant LIRI-JP 12 131090948 131090948 single base substitution G A intron_variant LIRI-JP 12 131092299 131092299 single base substitution C T intron_variant LIRI-JP 12 131094235 131094235 single base substitution G C intron_variant LIRI-JP 12 131095678 131095678 single base substitution G A intron_variant LIRI-JP 12 131096650 131096650 single base substitution T A intron_variant LIRI-JP 12 131096786 131096786 single base substitution C G intron_variant LIRI-JP 12 131096854 131096854 single base substitution G A intron_variant LIRI-JP 12 131097044 131097044 single base substitution G A intron_variant LIRI-JP 12 131097740 131097740 single base substitution G A intron_variant LIRI-JP 12 131098739 131098739 single base substitution T C intron_variant LIRI-JP 12 131099369 131099369 single base substitution A G intron_variant LIRI-JP 12 131100421 131100421 single base substitution T C intron_variant LIRI-JP 12 131100426 131100426 single base substitution G C intron_variant LIRI-JP 12 131103044 131103044 single base substitution C T intron_variant LIRI-JP 12 131103481 131103481 single base substitution G C intron_variant LIRI-JP 12 131104132 131104132 single base substitution G A intron_variant LIRI-JP 12 131104175 131104175 single base substitution A G intron_variant LIRI-JP 12 131104586 131104586 single base substitution A G intron_variant LIRI-JP 12 131104733 131104733 deletion of <=200bp T - intron_variant LIRI-JP 12 131105368 131105368 single base substitution G A intron_variant LIRI-JP 12 131105772 131105772 single base substitution T C intron_variant LIRI-JP 12 131106059 131106059 single base substitution C T intron_variant LIRI-JP 12 131108443 131108443 single base substitution A T intron_variant LIRI-JP 12 131110602 131110602 single base substitution T C intron_variant LIRI-JP 12 131113216 131113216 deletion of <=200bp A - intron_variant LIRI-JP 12 131113817 131113817 single base substitution C A intron_variant LIRI-JP 12 131115394 131115394 single base substitution T A intron_variant LIRI-JP 12 131117101 131117101 single base substitution C A intron_variant LIRI-JP 12 131117805 131117805 single base substitution T C intron_variant LIRI-JP 12 131118147 131118147 single base substitution C A intron_variant LIRI-JP 12 131118875 131118875 single base substitution C T intron_variant LIRI-JP 12 131119436 131119436 single base substitution A G intron_variant LIRI-JP 12 131120156 131120156 single base substitution G T intron_variant LIRI-JP 12 131121370 131121370 single base substitution T C intron_variant LIRI-JP 12 131121810 131121810 single base substitution C T intron_variant LIRI-JP 12 131121974 131121974 single base substitution C T intron_variant LIRI-JP 12 131122432 131122432 single base substitution T C intron_variant LIRI-JP 12 131122959 131122959 single base substitution G T intron_variant LIRI-JP 12 131124026 131124026 single base substitution C A intron_variant LIRI-JP 12 131124097 131124097 single base substitution A T intron_variant LIRI-JP 12 131124710 131124710 single base substitution C T intron_variant LIRI-JP 12 131125160 131125160 single base substitution G T intron_variant LIRI-JP 12 131125161 131125161 single base substitution G T intron_variant LIRI-JP 12 131125532 131125532 single base substitution C A intron_variant LIRI-JP 12 131127114 131127114 single base substitution G A intron_variant LIRI-JP 12 131128436 131128436 single base substitution G A intron_variant LIRI-JP 12 131128908 131128908 single base substitution C A intron_variant LIRI-JP 12 131129001 131129001 single base substitution T C intron_variant LIRI-JP 12 131130256 131130256 single base substitution T A intron_variant LIRI-JP 12 131130465 131130465 single base substitution T A intron_variant LIRI-JP 12 131131407 131131407 single base substitution G A intron_variant LIRI-JP 12 131132075 131132075 single base substitution G C intron_variant LIRI-JP 12 131132249 131132249 single base substitution C T intron_variant LIRI-JP 12 131132506 131132506 single base substitution G T intron_variant LIRI-JP 12 131132913 131132913 single base substitution T A intron_variant LIRI-JP 12 131134727 131134727 single base substitution G T intron_variant LIRI-JP 12 131137034 131137034 single base substitution G C intron_variant LIRI-JP 12 131137338 131137338 single base substitution T G intron_variant LIRI-JP 12 131137893 131137893 single base substitution G A intron_variant LIRI-JP 12 131139238 131139238 single base substitution A G intron_variant LIRI-JP 12 131140000 131140000 single base substitution G A intron_variant LIRI-JP 12 131140162 131140162 single base substitution C G intron_variant LIRI-JP 12 131141734 131141734 single base substitution C G intron_variant LIRI-JP 12 131150329 131150329 single base substitution A G intron_variant LIRI-JP 12 131153909 131153909 single base substitution C G intron_variant LIRI-JP 12 131154930 131154930 single base substitution C T intron_variant LIRI-JP 12 131155574 131155574 single base substitution G T intron_variant LIRI-JP 12 131157149 131157149 single base substitution A T intron_variant LIRI-JP 12 131159345 131159345 single base substitution C T intron_variant LIRI-JP 12 131160270 131160270 single base substitution A G intron_variant LIRI-JP 12 131161702 131161702 single base substitution G T intron_variant LIRI-JP 12 131162372 131162372 single base substitution C T intron_variant LIRI-JP 12 131171212 131171212 single base substitution A G intron_variant LIRI-JP 12 131171396 131171396 single base substitution G T intron_variant LIRI-JP 12 131171397 131171397 single base substitution G T intron_variant LIRI-JP 12 131172429 131172429 single base substitution G C intron_variant LIRI-JP 12 131172875 131172875 single base substitution T C intron_variant LIRI-JP 12 131176561 131176561 single base substitution G A intron_variant LIRI-JP 12 131177183 131177183 single base substitution T A intron_variant LIRI-JP 12 131179170 131179170 single base substitution C G intron_variant LIRI-JP 12 131180066 131180066 single base substitution C T intron_variant LIRI-JP 12 131180679 131180679 single base substitution T G intron_variant LIRI-JP 12 131180688 131180688 single base substitution C A intron_variant LIRI-JP 12 131180689 131180689 single base substitution C A intron_variant LIRI-JP 12 131180852 131180852 single base substitution G A intron_variant LIRI-JP 12 131180901 131180901 single base substitution T A intron_variant LIRI-JP 12 131181592 131181592 single base substitution A T intron_variant LIRI-JP 12 131182100 131182100 single base substitution G A intron_variant LIRI-JP 12 131182108 131182108 single base substitution T C intron_variant LIRI-JP 12 131182185 131182185 single base substitution C T intron_variant LIRI-JP 12 131183008 131183008 single base substitution T G intron_variant LIRI-JP 12 131183913 131183913 single base substitution C T intron_variant LIRI-JP 12 131186063 131186063 single base substitution C A intron_variant LIRI-JP 12 131186844 131186844 single base substitution C T intron_variant LIRI-JP 12 131187677 131187677 single base substitution G T intron_variant LIRI-JP 12 131187803 131187803 single base substitution C T intron_variant LIRI-JP 12 131187889 131187889 single base substitution T A intron_variant LIRI-JP 12 131187982 131187982 single base substitution C A intron_variant LIRI-JP 12 131188025 131188025 single base substitution C A intron_variant LIRI-JP 12 131188502 131188502 single base substitution T C intron_variant LIRI-JP 12 131188618 131188618 single base substitution G A intron_variant LIRI-JP 12 131190144 131190144 single base substitution C T intron_variant LIRI-JP 12 131190277 131190277 single base substitution A G intron_variant LIRI-JP 12 131191023 131191023 deletion of <=200bp C - intron_variant LIRI-JP 12 131191290 131191290 single base substitution A G intron_variant LIRI-JP 12 131192601 131192601 single base substitution A G intron_variant LIRI-JP 12 131193441 131193441 single base substitution G A intron_variant LIRI-JP 12 131197235 131197235 single base substitution A T intron_variant LIRI-JP 12 131199585 131199585 single base substitution A C intron_variant LIRI-JP 12 131201483 131201483 single base substitution A T upstream_gene_variant LIRI-JP 12 131201912 131201912 single base substitution A G upstream_gene_variant LIRI-JP 12 131202354 131202354 single base substitution T G upstream_gene_variant LIRI-JP 12 131203217 131203217 single base substitution G T upstream_gene_variant LUSC-KR 12 130876833 130876833 single base substitution C T downstream_gene_variant LUSC-KR 12 130877484 130877484 single base substitution G A downstream_gene_variant LUSC-KR 12 130877605 130877605 single base substitution C A downstream_gene_variant LUSC-KR 12 130877964 130877964 single base substitution C T downstream_gene_variant LUSC-KR 12 130878000 130878000 single base substitution T C downstream_gene_variant LUSC-KR 12 130878505 130878505 single base substitution G A downstream_gene_variant LUSC-KR 12 130887267 130887267 single base substitution C A intron_variant LUSC-KR 12 130888413 130888413 single base substitution T A intron_variant LUSC-KR 12 130893518 130893518 single base substitution C T intron_variant LUSC-KR 12 130893518 130893518 single base substitution C T upstream_gene_variant LUSC-KR 12 130895249 130895249 single base substitution C A intron_variant LUSC-KR 12 130895249 130895249 single base substitution C A upstream_gene_variant LUSC-KR 12 130896645 130896645 single base substitution C A intron_variant LUSC-KR 12 130896645 130896645 single base substitution C A upstream_gene_variant LUSC-KR 12 130897357 130897357 single base substitution C A intron_variant LUSC-KR 12 130897357 130897357 single base substitution C A upstream_gene_variant LUSC-KR 12 130898359 130898359 single base substitution G A intron_variant LUSC-KR 12 130898935 130898935 single base substitution T C 5_prime_UTR_variant LUSC-KR 12 130898935 130898935 single base substitution T C intron_variant LUSC-KR 12 130899060 130899060 single base substitution G T 5_prime_UTR_variant LUSC-KR 12 130899060 130899060 single base substitution G T intron_variant LUSC-KR 12 130900191 130900191 single base substitution C T intron_variant LUSC-KR 12 130900191 130900191 single base substitution C T upstream_gene_variant LUSC-KR 12 130903620 130903620 single base substitution C T intron_variant LUSC-KR 12 130903620 130903620 single base substitution C T upstream_gene_variant LUSC-KR 12 130904864 130904864 single base substitution G C intron_variant LUSC-KR 12 130908701 130908701 single base substitution C A intron_variant LUSC-KR 12 130908960 130908960 single base substitution C A intron_variant LUSC-KR 12 130909969 130909969 single base substitution T A intron_variant LUSC-KR 12 130909971 130909971 single base substitution C G intron_variant LUSC-KR 12 130911541 130911541 single base substitution C T downstream_gene_variant LUSC-KR 12 130911541 130911541 single base substitution C T intron_variant LUSC-KR 12 130915785 130915785 single base substitution A C downstream_gene_variant LUSC-KR 12 130915785 130915785 single base substitution A C intron_variant LUSC-KR 12 130916804 130916804 single base substitution C G 3_prime_UTR_variant LUSC-KR 12 130916804 130916804 single base substitution C G intron_variant LUSC-KR 12 130920768 130920768 single base substitution G T intron_variant LUSC-KR 12 130921300 130921300 single base substitution C A intron_variant LUSC-KR 12 130922531 130922531 single base substitution G A intron_variant LUSC-KR 12 130923347 130923347 single base substitution T A intron_variant LUSC-KR 12 130924326 130924326 single base substitution A G intron_variant LUSC-KR 12 130924366 130924366 single base substitution C G intron_variant LUSC-KR 12 130929276 130929276 single base substitution C G intron_variant LUSC-KR 12 130929811 130929811 single base substitution G T stop_gained Y178* 534C>A LUSC-KR 12 130929811 130929811 single base substitution G T stop_gained Y86* 258C>A LUSC-KR 12 130932861 130932861 single base substitution T A intron_variant LUSC-KR 12 130933986 130933986 single base substitution G C intron_variant LUSC-KR 12 130937158 130937158 single base substitution G A intron_variant LUSC-KR 12 130938465 130938465 single base substitution G T intron_variant LUSC-KR 12 130941069 130941069 single base substitution C T missense_variant M93I 279G>A LUSC-KR 12 130941069 130941069 single base substitution C T start_lost M1I 3G>A LUSC-KR 12 130943576 130943576 single base substitution T G intron_variant LUSC-KR 12 130944141 130944141 single base substitution C G intron_variant LUSC-KR 12 130945889 130945889 single base substitution G C intron_variant LUSC-KR 12 130946175 130946175 single base substitution T C intron_variant LUSC-KR 12 130946598 130946598 single base substitution G T intron_variant LUSC-KR 12 130947589 130947589 single base substitution C G intron_variant LUSC-KR 12 130949036 130949036 single base substitution C T intron_variant LUSC-KR 12 130950491 130950491 single base substitution C G downstream_gene_variant LUSC-KR 12 130950491 130950491 single base substitution C G intron_variant LUSC-KR 12 130951392 130951392 single base substitution C A downstream_gene_variant LUSC-KR 12 130951392 130951392 single base substitution C A intron_variant LUSC-KR 12 130951393 130951393 single base substitution C A downstream_gene_variant LUSC-KR 12 130951393 130951393 single base substitution C A intron_variant LUSC-KR 12 130952280 130952280 single base substitution C G downstream_gene_variant LUSC-KR 12 130952280 130952280 single base substitution C G intron_variant LUSC-KR 12 130953210 130953210 single base substitution C A downstream_gene_variant LUSC-KR 12 130953210 130953210 single base substitution C A intron_variant LUSC-KR 12 130953272 130953272 single base substitution C A downstream_gene_variant LUSC-KR 12 130953272 130953272 single base substitution C A intron_variant LUSC-KR 12 130953664 130953664 single base substitution G A downstream_gene_variant LUSC-KR 12 130953664 130953664 single base substitution G A intron_variant LUSC-KR 12 130953718 130953718 single base substitution C A downstream_gene_variant LUSC-KR 12 130953718 130953718 single base substitution C A intron_variant LUSC-KR 12 130955683 130955683 single base substitution C A intron_variant LUSC-KR 12 130956509 130956509 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 12 130956509 130956509 single base substitution G C intron_variant LUSC-KR 12 130958427 130958427 single base substitution G T intron_variant LUSC-KR 12 130959361 130959361 single base substitution G A intron_variant LUSC-KR 12 130959997 130959997 single base substitution G T intron_variant LUSC-KR 12 130961245 130961245 single base substitution G A intron_variant LUSC-KR 12 130962948 130962948 single base substitution C A intron_variant LUSC-KR 12 130963112 130963112 single base substitution T C intron_variant LUSC-KR 12 130964084 130964084 single base substitution C T intron_variant LUSC-KR 12 130966470 130966470 single base substitution C A intron_variant LUSC-KR 12 130967288 130967288 single base substitution T C intron_variant LUSC-KR 12 130967329 130967329 single base substitution G C intron_variant LUSC-KR 12 130967339 130967339 single base substitution C A intron_variant LUSC-KR 12 130967403 130967403 single base substitution A T intron_variant LUSC-KR 12 130967649 130967649 single base substitution A C intron_variant LUSC-KR 12 130967701 130967701 single base substitution G C intron_variant LUSC-KR 12 130967722 130967722 single base substitution C T intron_variant LUSC-KR 12 130968335 130968335 single base substitution G A intron_variant LUSC-KR 12 130968887 130968887 single base substitution A G intron_variant LUSC-KR 12 130969994 130969994 single base substitution C A intron_variant LUSC-KR 12 130971703 130971703 single base substitution G T intron_variant LUSC-KR 12 130972101 130972101 single base substitution C T intron_variant LUSC-KR 12 130974868 130974868 single base substitution C A intron_variant LUSC-KR 12 130976692 130976692 single base substitution G C intron_variant LUSC-KR 12 130977833 130977833 single base substitution T C intron_variant LUSC-KR 12 130978722 130978722 single base substitution G T intron_variant LUSC-KR 12 130980193 130980193 single base substitution A G intron_variant LUSC-KR 12 130981530 130981530 single base substitution G A intron_variant LUSC-KR 12 130987171 130987171 single base substitution G T intron_variant LUSC-KR 12 130989401 130989401 single base substitution C T intron_variant LUSC-KR 12 130989602 130989602 single base substitution G T intron_variant LUSC-KR 12 130991819 130991819 single base substitution G T intron_variant LUSC-KR 12 130991819 130991819 single base substitution G T upstream_gene_variant LUSC-KR 12 130993048 130993048 single base substitution G T intron_variant LUSC-KR 12 130993048 130993048 single base substitution G T upstream_gene_variant LUSC-KR 12 130993056 130993056 single base substitution C G intron_variant LUSC-KR 12 130993056 130993056 single base substitution C G upstream_gene_variant LUSC-KR 12 130994304 130994304 single base substitution T A intron_variant LUSC-KR 12 130994304 130994304 single base substitution T A upstream_gene_variant LUSC-KR 12 130998477 130998477 single base substitution G A intron_variant LUSC-KR 12 130999663 130999663 single base substitution C A intron_variant LUSC-KR 12 131002608 131002608 single base substitution T A intron_variant LUSC-KR 12 131002608 131002608 single base substitution T A upstream_gene_variant LUSC-KR 12 131002637 131002637 single base substitution T A intron_variant LUSC-KR 12 131002637 131002637 single base substitution T A upstream_gene_variant LUSC-KR 12 131005809 131005809 single base substitution G T intron_variant LUSC-KR 12 131005809 131005809 single base substitution G T upstream_gene_variant LUSC-KR 12 131007801 131007801 single base substitution C T intron_variant LUSC-KR 12 131007802 131007802 single base substitution G T intron_variant LUSC-KR 12 131010551 131010551 single base substitution G T intron_variant LUSC-KR 12 131015317 131015317 single base substitution T A intron_variant LUSC-KR 12 131016723 131016723 single base substitution T G intron_variant LUSC-KR 12 131016798 131016798 single base substitution G T intron_variant LUSC-KR 12 131016989 131016989 single base substitution G T intron_variant LUSC-KR 12 131017064 131017064 single base substitution T G intron_variant LUSC-KR 12 131017483 131017483 single base substitution G T intron_variant LUSC-KR 12 131018141 131018141 single base substitution G C intron_variant LUSC-KR 12 131018734 131018734 single base substitution G C intron_variant LUSC-KR 12 131019716 131019716 single base substitution G A intron_variant LUSC-KR 12 131020870 131020870 single base substitution G A intron_variant LUSC-KR 12 131021791 131021791 single base substitution C G intron_variant LUSC-KR 12 131022275 131022275 single base substitution T C intron_variant LUSC-KR 12 131022388 131022388 single base substitution G A intron_variant LUSC-KR 12 131022795 131022795 single base substitution G A intron_variant LUSC-KR 12 131024122 131024122 single base substitution G A intron_variant LUSC-KR 12 131024536 131024536 single base substitution G C intron_variant LUSC-KR 12 131024611 131024611 single base substitution C A intron_variant LUSC-KR 12 131025013 131025013 single base substitution A C intron_variant LUSC-KR 12 131026397 131026397 single base substitution A T intron_variant LUSC-KR 12 131029039 131029039 single base substitution C A intron_variant LUSC-KR 12 131029040 131029040 single base substitution C A intron_variant LUSC-KR 12 131029044 131029044 single base substitution T C intron_variant LUSC-KR 12 131029058 131029058 single base substitution G T intron_variant LUSC-KR 12 131029213 131029213 single base substitution C T intron_variant LUSC-KR 12 131035206 131035206 single base substitution C A intron_variant LUSC-KR 12 131035408 131035408 single base substitution T A intron_variant LUSC-KR 12 131038580 131038580 single base substitution T G intron_variant LUSC-KR 12 131039342 131039342 single base substitution T C intron_variant LUSC-KR 12 131040483 131040483 single base substitution C A intron_variant LUSC-KR 12 131041055 131041055 single base substitution C A intron_variant LUSC-KR 12 131041701 131041701 single base substitution G C intron_variant LUSC-KR 12 131044557 131044557 single base substitution G T intron_variant LUSC-KR 12 131048635 131048635 single base substitution C G intron_variant LUSC-KR 12 131048749 131048749 single base substitution C G intron_variant LUSC-KR 12 131049054 131049054 single base substitution T G intron_variant LUSC-KR 12 131051279 131051279 single base substitution C T intron_variant LUSC-KR 12 131053200 131053200 single base substitution G A intron_variant LUSC-KR 12 131053781 131053781 single base substitution C A intron_variant LUSC-KR 12 131054271 131054271 single base substitution C T intron_variant LUSC-KR 12 131056754 131056754 single base substitution C A intron_variant LUSC-KR 12 131062100 131062100 single base substitution C A intron_variant LUSC-KR 12 131062432 131062432 single base substitution T C intron_variant LUSC-KR 12 131064787 131064787 single base substitution G T intron_variant LUSC-KR 12 131065005 131065005 single base substitution C T intron_variant LUSC-KR 12 131065494 131065494 single base substitution T G intron_variant LUSC-KR 12 131065880 131065880 single base substitution G T intron_variant LUSC-KR 12 131069200 131069200 single base substitution C T intron_variant LUSC-KR 12 131069297 131069297 single base substitution C T intron_variant LUSC-KR 12 131069300 131069300 single base substitution T C intron_variant LUSC-KR 12 131071558 131071558 single base substitution G A intron_variant LUSC-KR 12 131071608 131071608 single base substitution A G intron_variant LUSC-KR 12 131071677 131071677 single base substitution C T intron_variant LUSC-KR 12 131071722 131071722 single base substitution T C intron_variant LUSC-KR 12 131071976 131071976 single base substitution A G intron_variant LUSC-KR 12 131075413 131075413 single base substitution C A intron_variant LUSC-KR 12 131076282 131076282 single base substitution A G intron_variant LUSC-KR 12 131076494 131076494 single base substitution C A intron_variant LUSC-KR 12 131078076 131078076 single base substitution G A intron_variant LUSC-KR 12 131078666 131078666 single base substitution G A intron_variant LUSC-KR 12 131081525 131081525 single base substitution C G intron_variant LUSC-KR 12 131083900 131083900 single base substitution C A intron_variant LUSC-KR 12 131083910 131083910 single base substitution A C intron_variant LUSC-KR 12 131089490 131089490 single base substitution G T intron_variant LUSC-KR 12 131091517 131091517 single base substitution T A intron_variant LUSC-KR 12 131091563 131091563 single base substitution G C intron_variant LUSC-KR 12 131092212 131092212 single base substitution C A intron_variant LUSC-KR 12 131092556 131092556 single base substitution T A intron_variant LUSC-KR 12 131092667 131092667 single base substitution C A intron_variant LUSC-KR 12 131093157 131093157 single base substitution A G intron_variant LUSC-KR 12 131095347 131095347 single base substitution C A intron_variant LUSC-KR 12 131100142 131100142 single base substitution C T intron_variant LUSC-KR 12 131100359 131100359 single base substitution C G intron_variant LUSC-KR 12 131100830 131100830 single base substitution C A intron_variant LUSC-KR 12 131101279 131101279 single base substitution A G intron_variant LUSC-KR 12 131103101 131103101 single base substitution C A intron_variant LUSC-KR 12 131104268 131104268 single base substitution C G intron_variant LUSC-KR 12 131105620 131105620 single base substitution C G intron_variant LUSC-KR 12 131106072 131106072 single base substitution G C intron_variant LUSC-KR 12 131106163 131106163 single base substitution C A intron_variant LUSC-KR 12 131107504 131107504 single base substitution G T intron_variant LUSC-KR 12 131107841 131107841 single base substitution G A intron_variant LUSC-KR 12 131109927 131109927 single base substitution C T intron_variant LUSC-KR 12 131110984 131110984 single base substitution A G intron_variant LUSC-KR 12 131113622 131113622 single base substitution C G intron_variant LUSC-KR 12 131115721 131115721 single base substitution A G intron_variant LUSC-KR 12 131117048 131117048 single base substitution C G intron_variant LUSC-KR 12 131117699 131117699 single base substitution A T intron_variant LUSC-KR 12 131117747 131117747 single base substitution G T intron_variant LUSC-KR 12 131119781 131119781 single base substitution G T intron_variant LUSC-KR 12 131119982 131119982 single base substitution C A intron_variant LUSC-KR 12 131120682 131120682 single base substitution G A intron_variant LUSC-KR 12 131120986 131120986 single base substitution C A intron_variant LUSC-KR 12 131122225 131122225 single base substitution C A intron_variant LUSC-KR 12 131122560 131122560 single base substitution C A intron_variant LUSC-KR 12 131123094 131123094 single base substitution C T intron_variant LUSC-KR 12 131125334 131125334 single base substitution C T intron_variant LUSC-KR 12 131126058 131126058 single base substitution C T intron_variant LUSC-KR 12 131126921 131126921 single base substitution C A intron_variant LUSC-KR 12 131127684 131127684 single base substitution C A intron_variant LUSC-KR 12 131127764 131127764 single base substitution G A intron_variant LUSC-KR 12 131128923 131128923 single base substitution C A intron_variant LUSC-KR 12 131130125 131130125 single base substitution C T intron_variant LUSC-KR 12 131132609 131132609 single base substitution C G intron_variant LUSC-KR 12 131134595 131134595 single base substitution G C intron_variant LUSC-KR 12 131136080 131136080 single base substitution T C intron_variant LUSC-KR 12 131136343 131136343 single base substitution T C intron_variant LUSC-KR 12 131137285 131137285 single base substitution A C intron_variant LUSC-KR 12 131139755 131139755 single base substitution C A intron_variant LUSC-KR 12 131147595 131147595 single base substitution C G intron_variant LUSC-KR 12 131147837 131147837 single base substitution G T intron_variant LUSC-KR 12 131148992 131148992 single base substitution G A intron_variant LUSC-KR 12 131149764 131149764 single base substitution G T intron_variant LUSC-KR 12 131153055 131153055 single base substitution G T intron_variant LUSC-KR 12 131153207 131153207 single base substitution C T intron_variant LUSC-KR 12 131153398 131153398 single base substitution T A intron_variant LUSC-KR 12 131155192 131155192 single base substitution G T intron_variant LUSC-KR 12 131155782 131155782 single base substitution C A intron_variant LUSC-KR 12 131156849 131156849 single base substitution A G intron_variant LUSC-KR 12 131158650 131158650 single base substitution G A intron_variant LUSC-KR 12 131159047 131159047 single base substitution C A intron_variant LUSC-KR 12 131159966 131159966 single base substitution A T intron_variant LUSC-KR 12 131160316 131160316 single base substitution G A intron_variant LUSC-KR 12 131160407 131160407 single base substitution G A intron_variant LUSC-KR 12 131160577 131160577 single base substitution G A intron_variant LUSC-KR 12 131160741 131160741 single base substitution C T intron_variant LUSC-KR 12 131161617 131161617 single base substitution A C intron_variant LUSC-KR 12 131163829 131163829 single base substitution T G intron_variant LUSC-KR 12 131163864 131163864 single base substitution A C intron_variant LUSC-KR 12 131164383 131164383 single base substitution G C intron_variant LUSC-KR 12 131164427 131164427 single base substitution G C intron_variant LUSC-KR 12 131165345 131165345 single base substitution G A intron_variant LUSC-KR 12 131165368 131165368 single base substitution G T intron_variant LUSC-KR 12 131165384 131165384 single base substitution G A intron_variant LUSC-KR 12 131165538 131165538 single base substitution A G intron_variant LUSC-KR 12 131166438 131166438 single base substitution C T intron_variant LUSC-KR 12 131169583 131169583 single base substitution A T intron_variant LUSC-KR 12 131169764 131169764 single base substitution G A intron_variant LUSC-KR 12 131170770 131170770 single base substitution T A intron_variant LUSC-KR 12 131171147 131171147 single base substitution C G intron_variant LUSC-KR 12 131173275 131173275 single base substitution C A intron_variant LUSC-KR 12 131173764 131173764 single base substitution G T intron_variant LUSC-KR 12 131174713 131174713 single base substitution G A intron_variant LUSC-KR 12 131176505 131176505 single base substitution C A intron_variant LUSC-KR 12 131176549 131176549 single base substitution G T intron_variant LUSC-KR 12 131177425 131177425 single base substitution G A intron_variant LUSC-KR 12 131177430 131177430 single base substitution G A intron_variant LUSC-KR 12 131177440 131177440 single base substitution A G intron_variant LUSC-KR 12 131178872 131178872 single base substitution A C intron_variant LUSC-KR 12 131180535 131180535 single base substitution T C intron_variant LUSC-KR 12 131182237 131182237 single base substitution C A intron_variant LUSC-KR 12 131183069 131183069 single base substitution G A intron_variant LUSC-KR 12 131183183 131183183 single base substitution C T intron_variant LUSC-KR 12 131184915 131184915 single base substitution A G intron_variant LUSC-KR 12 131185925 131185925 single base substitution C A intron_variant LUSC-KR 12 131187295 131187295 single base substitution C A intron_variant LUSC-KR 12 131192264 131192264 single base substitution G A intron_variant LUSC-KR 12 131194759 131194759 single base substitution G T intron_variant LUSC-KR 12 131199529 131199529 single base substitution G T intron_variant LUSC-KR 12 131203571 131203571 single base substitution T A upstream_gene_variant LUSC-US 12 130884263 130884263 single base substitution G A 3_prime_UTR_variant LUSC-US 12 130884263 130884263 single base substitution G A downstream_gene_variant LUSC-US 12 130884263 130884263 single base substitution G A synonymous_variant H1031H 3093C>T LUSC-US 12 130892301 130892301 single base substitution G T exon_variant LUSC-US 12 130892301 130892301 single base substitution G T synonymous_variant P102P 306C>A LUSC-US 12 130892301 130892301 single base substitution G T synonymous_variant P965P 2895C>A LUSC-US 12 130897317 130897317 single base substitution C A missense_variant D27Y 79G>T LUSC-US 12 130897317 130897317 single base substitution C A missense_variant D890Y 2668G>T LUSC-US 12 130897317 130897317 single base substitution C A upstream_gene_variant LUSC-US 12 130912803 130912805 deletion of <=200bp TCG - disruptive_inframe_deletion DE760E LUSC-US 12 130912803 130912805 deletion of <=200bp TCG - downstream_gene_variant LUSC-US 12 130919366 130919366 single base substitution G A synonymous_variant D613D 1839C>T LUSC-US 12 130919366 130919366 single base substitution G A synonymous_variant D705D 2115C>T LUSC-US 12 130921587 130921587 single base substitution C A missense_variant A527S 1579G>T LUSC-US 12 130921587 130921587 single base substitution C A missense_variant A619S 1855G>T LUSC-US 12 130922965 130922965 single base substitution C A missense_variant G425V 1274G>T LUSC-US 12 130922965 130922965 single base substitution C A missense_variant G517V 1550G>T LUSC-US 12 130926407 130926407 single base substitution G C missense_variant S388C 1163C>G LUSC-US 12 130926407 130926407 single base substitution G C missense_variant S480C 1439C>G LUSC-US 12 130926707 130926707 single base substitution A T missense_variant L288Q 863T>A LUSC-US 12 130926707 130926707 single base substitution A T missense_variant L380Q 1139T>A LUSC-US 12 130929768 130929768 single base substitution G T missense_variant P101T 301C>A LUSC-US 12 130929768 130929768 single base substitution G T missense_variant P193T 577C>A LUSC-US 12 130935770 130935770 single base substitution G A synonymous_variant S141S 423C>T LUSC-US 12 130935770 130935770 single base substitution G A synonymous_variant S49S 147C>T LUSC-US 12 130935867 130935867 single base substitution C T missense_variant G109E 326G>A LUSC-US 12 130935867 130935867 single base substitution C T missense_variant G17E 50G>A LUSC-US 12 130941081 130941081 single base substitution G A 5_prime_UTR_variant LUSC-US 12 130941081 130941081 single base substitution G A synonymous_variant F89F 267C>T MALY-DE 12 130878011 130878011 insertion of <=200bp - GG downstream_gene_variant MALY-DE 12 130879340 130879340 single base substitution C A downstream_gene_variant MALY-DE 12 130880418 130880418 single base substitution T C downstream_gene_variant MALY-DE 12 130881521 130881521 single base substitution A T 3_prime_UTR_variant MALY-DE 12 130881521 130881521 single base substitution A T downstream_gene_variant MALY-DE 12 130882573 130882573 single base substitution G T 3_prime_UTR_variant MALY-DE 12 130882573 130882573 single base substitution G T downstream_gene_variant MALY-DE 12 130882573 130882573 single base substitution G T intron_variant MALY-DE 12 130882590 130882590 deletion of <=200bp A - 3_prime_UTR_variant MALY-DE 12 130882590 130882590 deletion of <=200bp A - downstream_gene_variant MALY-DE 12 130882590 130882590 deletion of <=200bp A - intron_variant MALY-DE 12 130883671 130883671 single base substitution A C 3_prime_UTR_variant MALY-DE 12 130883671 130883671 single base substitution A C downstream_gene_variant MALY-DE 12 130883671 130883671 single base substitution A C intron_variant MALY-DE 12 130884811 130884811 single base substitution C T intron_variant MALY-DE 12 130884812 130884812 single base substitution G A intron_variant MALY-DE 12 130885691 130885691 single base substitution C T intron_variant MALY-DE 12 130885858 130885858 single base substitution G A intron_variant MALY-DE 12 130886224 130886224 single base substitution G A intron_variant MALY-DE 12 130888193 130888193 single base substitution A G intron_variant MALY-DE 12 130889237 130889237 single base substitution G A intron_variant MALY-DE 12 130892525 130892525 single base substitution C T intron_variant MALY-DE 12 130892525 130892525 single base substitution C T upstream_gene_variant MALY-DE 12 130893158 130893158 single base substitution C G intron_variant MALY-DE 12 130893158 130893158 single base substitution C G upstream_gene_variant MALY-DE 12 130895441 130895441 single base substitution T G intron_variant MALY-DE 12 130895441 130895441 single base substitution T G upstream_gene_variant MALY-DE 12 130897130 130897130 single base substitution G T intron_variant MALY-DE 12 130897130 130897130 single base substitution G T upstream_gene_variant MALY-DE 12 130897277 130897277 single base substitution A G missense_variant L40P 119T>C MALY-DE 12 130897277 130897277 single base substitution A G missense_variant L903P 2708T>C MALY-DE 12 130897277 130897277 single base substitution A G upstream_gene_variant MALY-DE 12 130900505 130900506 deletion of <=200bp CA - intron_variant MALY-DE 12 130900505 130900506 deletion of <=200bp CA - upstream_gene_variant MALY-DE 12 130905143 130905143 deletion of <=200bp A - intron_variant MALY-DE 12 130909140 130909140 single base substitution C A intron_variant MALY-DE 12 130909142 130909142 single base substitution C A intron_variant MALY-DE 12 130909232 130909232 single base substitution C G intron_variant MALY-DE 12 130913570 130913570 single base substitution A T downstream_gene_variant MALY-DE 12 130913570 130913570 single base substitution A T intron_variant MALY-DE 12 130914139 130914139 single base substitution C T downstream_gene_variant MALY-DE 12 130914139 130914139 single base substitution C T intron_variant MALY-DE 12 130914848 130914848 single base substitution G A downstream_gene_variant MALY-DE 12 130914848 130914848 single base substitution G A intron_variant MALY-DE 12 130915393 130915393 single base substitution C G downstream_gene_variant MALY-DE 12 130915393 130915393 single base substitution C G intron_variant MALY-DE 12 130915492 130915492 single base substitution C T downstream_gene_variant MALY-DE 12 130915492 130915492 single base substitution C T intron_variant MALY-DE 12 130916353 130916353 single base substitution C T 3_prime_UTR_variant MALY-DE 12 130916353 130916353 single base substitution C T intron_variant MALY-DE 12 130916945 130916945 single base substitution C A intron_variant MALY-DE 12 130918925 130918925 single base substitution A G intron_variant MALY-DE 12 130920976 130920976 single base substitution G A intron_variant MALY-DE 12 130923465 130923465 single base substitution G A intron_variant MALY-DE 12 130926128 130926128 single base substitution T G intron_variant MALY-DE 12 130932119 130932119 single base substitution C A intron_variant MALY-DE 12 130932345 130932345 single base substitution G T intron_variant MALY-DE 12 130935513 130935513 single base substitution C T intron_variant MALY-DE 12 130936523 130936523 single base substitution T G intron_variant MALY-DE 12 130936823 130936823 single base substitution A T intron_variant MALY-DE 12 130936927 130936927 single base substitution G T intron_variant MALY-DE 12 130943559 130943559 single base substitution A C intron_variant MALY-DE 12 130943987 130943987 single base substitution A G intron_variant MALY-DE 12 130948406 130948406 single base substitution C T intron_variant MALY-DE 12 130955140 130955140 single base substitution G A exon_variant MALY-DE 12 130955140 130955140 single base substitution G A intron_variant MALY-DE 12 130956141 130956141 single base substitution G A intron_variant MALY-DE 12 130961445 130961445 single base substitution C T intron_variant MALY-DE 12 130965455 130965455 single base substitution T G intron_variant MALY-DE 12 130965643 130965643 deletion of <=200bp G - intron_variant MALY-DE 12 130965741 130965741 single base substitution G T intron_variant MALY-DE 12 130968878 130968878 single base substitution C T intron_variant MALY-DE 12 130968889 130968889 single base substitution C A intron_variant MALY-DE 12 130974401 130974401 single base substitution C T intron_variant MALY-DE 12 130976233 130976233 single base substitution A C intron_variant MALY-DE 12 130982084 130982084 single base substitution G A intron_variant MALY-DE 12 130984402 130984402 single base substitution C G intron_variant MALY-DE 12 130995923 130995923 single base substitution C T intron_variant MALY-DE 12 130995923 130995923 single base substitution C T upstream_gene_variant MALY-DE 12 130996688 130996688 single base substitution C T intron_variant MALY-DE 12 131004960 131004960 single base substitution A C intron_variant MALY-DE 12 131004960 131004960 single base substitution A C upstream_gene_variant MALY-DE 12 131005645 131005645 single base substitution A G intron_variant MALY-DE 12 131005645 131005645 single base substitution A G upstream_gene_variant MALY-DE 12 131009328 131009328 single base substitution G T intron_variant MALY-DE 12 131013752 131013752 insertion of <=200bp - A intron_variant MALY-DE 12 131014756 131014756 single base substitution A C intron_variant MALY-DE 12 131017582 131017582 single base substitution G T intron_variant MALY-DE 12 131018380 131018380 single base substitution A C intron_variant MALY-DE 12 131019314 131019314 single base substitution A T intron_variant MALY-DE 12 131020172 131020172 single base substitution A C intron_variant MALY-DE 12 131020197 131020197 single base substitution C T intron_variant MALY-DE 12 131020213 131020213 single base substitution T C intron_variant MALY-DE 12 131020230 131020231 deletion of <=200bp AC - intron_variant MALY-DE 12 131020790 131020790 single base substitution A C intron_variant MALY-DE 12 131023285 131023285 single base substitution A C intron_variant MALY-DE 12 131023301 131023301 single base substitution T A intron_variant MALY-DE 12 131025284 131025284 insertion of <=200bp - GGA intron_variant MALY-DE 12 131025286 131025286 insertion of <=200bp - TGAGA intron_variant MALY-DE 12 131026247 131026247 single base substitution A C intron_variant MALY-DE 12 131026947 131026947 single base substitution A G intron_variant MALY-DE 12 131027698 131027698 single base substitution C A intron_variant MALY-DE 12 131032450 131032450 single base substitution C A intron_variant MALY-DE 12 131032554 131032554 single base substitution A C intron_variant MALY-DE 12 131032612 131032612 single base substitution G A intron_variant MALY-DE 12 131035398 131035398 single base substitution A C intron_variant MALY-DE 12 131037103 131037103 single base substitution A C intron_variant MALY-DE 12 131040554 131040554 single base substitution G C intron_variant MALY-DE 12 131043895 131043895 single base substitution C A intron_variant MALY-DE 12 131046833 131046833 deletion of <=200bp T - intron_variant MALY-DE 12 131050721 131050722 deletion of <=200bp CA - intron_variant MALY-DE 12 131052540 131052540 deletion of <=200bp A - intron_variant MALY-DE 12 131056740 131056740 single base substitution A C intron_variant MALY-DE 12 131057651 131057651 single base substitution A C intron_variant MALY-DE 12 131060118 131060118 single base substitution C T intron_variant MALY-DE 12 131063780 131063780 single base substitution G T intron_variant MALY-DE 12 131070347 131070347 single base substitution C A intron_variant MALY-DE 12 131070965 131070965 single base substitution C T intron_variant MALY-DE 12 131075141 131075141 single base substitution A G intron_variant MALY-DE 12 131081317 131081317 single base substitution G C intron_variant MALY-DE 12 131081967 131081967 single base substitution T G intron_variant MALY-DE 12 131082902 131082902 insertion of <=200bp - T intron_variant MALY-DE 12 131083578 131083578 single base substitution G C intron_variant MALY-DE 12 131084111 131084111 single base substitution A G intron_variant MALY-DE 12 131087924 131087924 single base substitution G A intron_variant MALY-DE 12 131088394 131088394 single base substitution G T intron_variant MALY-DE 12 131092755 131092755 single base substitution A T intron_variant MALY-DE 12 131093786 131093786 insertion of <=200bp - C intron_variant MALY-DE 12 131095448 131095448 single base substitution C T intron_variant MALY-DE 12 131097415 131097415 single base substitution C A intron_variant MALY-DE 12 131101058 131101058 single base substitution G T intron_variant MALY-DE 12 131103760 131103760 single base substitution C T intron_variant MALY-DE 12 131105337 131105337 single base substitution T C intron_variant MALY-DE 12 131122184 131122184 single base substitution C A intron_variant MALY-DE 12 131130023 131130023 single base substitution G A intron_variant MALY-DE 12 131130615 131130615 single base substitution T A intron_variant MALY-DE 12 131134261 131134261 single base substitution T G intron_variant MALY-DE 12 131136431 131136431 deletion of <=200bp A - intron_variant MALY-DE 12 131137535 131137553 deletion of <=200bp TGAGGATCACATTTTGACA - intron_variant MALY-DE 12 131142895 131142895 single base substitution C A intron_variant MALY-DE 12 131143525 131143525 single base substitution A G intron_variant MALY-DE 12 131144826 131144826 single base substitution G A intron_variant MALY-DE 12 131149232 131149232 single base substitution G C intron_variant MALY-DE 12 131150047 131150047 single base substitution C T intron_variant MALY-DE 12 131150295 131150296 deletion of <=200bp AC - intron_variant MALY-DE 12 131154193 131154193 single base substitution C A intron_variant MALY-DE 12 131154443 131154443 single base substitution G A intron_variant MALY-DE 12 131154972 131154972 single base substitution C T intron_variant MALY-DE 12 131157455 131157455 single base substitution G A intron_variant MALY-DE 12 131159419 131159419 single base substitution C T intron_variant MALY-DE 12 131159472 131159472 single base substitution G A intron_variant MALY-DE 12 131163390 131163390 single base substitution A G intron_variant MALY-DE 12 131164058 131164058 single base substitution A G intron_variant MALY-DE 12 131164289 131164289 single base substitution G A intron_variant MALY-DE 12 131165817 131165817 single base substitution T A intron_variant MALY-DE 12 131168761 131168761 single base substitution A G intron_variant MALY-DE 12 131170197 131170197 single base substitution G A intron_variant MALY-DE 12 131172503 131172503 single base substitution G A intron_variant MALY-DE 12 131172587 131172587 single base substitution T C intron_variant MALY-DE 12 131174966 131174966 single base substitution G A intron_variant MALY-DE 12 131174999 131174999 single base substitution G A intron_variant MALY-DE 12 131176052 131176052 deletion of <=200bp A - intron_variant MALY-DE 12 131177425 131177425 single base substitution G A intron_variant MALY-DE 12 131177885 131177885 single base substitution G T intron_variant MALY-DE 12 131179160 131179160 single base substitution G A intron_variant MALY-DE 12 131185622 131185622 single base substitution A C intron_variant MALY-DE 12 131189763 131189763 single base substitution A G intron_variant MALY-DE 12 131195645 131195645 single base substitution G T intron_variant MALY-DE 12 131197422 131197422 single base substitution T C intron_variant MALY-DE 12 131203464 131203464 single base substitution G A upstream_gene_variant MALY-DE 12 131203863 131203863 deletion of <=200bp A - upstream_gene_variant MALY-DE 12 131204047 131204047 single base substitution G A upstream_gene_variant MELA-AU 12 130875874 130875874 single base substitution C T downstream_gene_variant MELA-AU 12 130875895 130875895 single base substitution G A downstream_gene_variant MELA-AU 12 130875997 130875997 single base substitution G A downstream_gene_variant MELA-AU 12 130876024 130876024 single base substitution C T downstream_gene_variant MELA-AU 12 130876044 130876044 single base substitution C T downstream_gene_variant MELA-AU 12 130876177 130876177 single base substitution G A downstream_gene_variant MELA-AU 12 130876315 130876315 single base substitution G A downstream_gene_variant MELA-AU 12 130876423 130876424 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 130876789 130876789 single base substitution G A downstream_gene_variant MELA-AU 12 130877000 130877000 single base substitution G T downstream_gene_variant MELA-AU 12 130877393 130877393 single base substitution G A downstream_gene_variant MELA-AU 12 130877568 130877568 single base substitution G A downstream_gene_variant MELA-AU 12 130877751 130877751 single base substitution G A downstream_gene_variant MELA-AU 12 130877986 130877986 single base substitution G A downstream_gene_variant MELA-AU 12 130878199 130878199 single base substitution G A downstream_gene_variant MELA-AU 12 130878401 130878401 single base substitution G A downstream_gene_variant MELA-AU 12 130878630 130878630 single base substitution C T downstream_gene_variant MELA-AU 12 130878667 130878667 single base substitution C T downstream_gene_variant MELA-AU 12 130878701 130878701 single base substitution C T downstream_gene_variant MELA-AU 12 130878736 130878736 single base substitution C T downstream_gene_variant MELA-AU 12 130879043 130879043 single base substitution C T downstream_gene_variant MELA-AU 12 130879130 130879130 single base substitution C T downstream_gene_variant MELA-AU 12 130879527 130879527 single base substitution C T downstream_gene_variant MELA-AU 12 130879808 130879808 single base substitution G A downstream_gene_variant MELA-AU 12 130880216 130880216 single base substitution G A downstream_gene_variant MELA-AU 12 130881752 130881752 single base substitution T C 3_prime_UTR_variant MELA-AU 12 130881752 130881752 single base substitution T C downstream_gene_variant MELA-AU 12 130882172 130882172 single base substitution C T 3_prime_UTR_variant MELA-AU 12 130882172 130882172 single base substitution C T downstream_gene_variant MELA-AU 12 130882172 130882172 single base substitution C T intron_variant MELA-AU 12 130882201 130882201 single base substitution T C 3_prime_UTR_variant MELA-AU 12 130882201 130882201 single base substitution T C downstream_gene_variant MELA-AU 12 130882201 130882201 single base substitution T C intron_variant MELA-AU 12 130882312 130882312 single base substitution C T 3_prime_UTR_variant MELA-AU 12 130882312 130882312 single base substitution C T downstream_gene_variant MELA-AU 12 130882312 130882312 single base substitution C T intron_variant MELA-AU 12 130882351 130882351 single base substitution G A 3_prime_UTR_variant MELA-AU 12 130882351 130882351 single base substitution G A downstream_gene_variant MELA-AU 12 130882351 130882351 single base substitution G A intron_variant MELA-AU 12 130882460 130882460 single base substitution G A 3_prime_UTR_variant MELA-AU 12 130882460 130882460 single base substitution G A downstream_gene_variant MELA-AU 12 130882460 130882460 single base substitution G A intron_variant MELA-AU 12 130883173 130883173 single base substitution G A 3_prime_UTR_variant MELA-AU 12 130883173 130883173 single base substitution G A downstream_gene_variant MELA-AU 12 130883173 130883173 single base substitution G A intron_variant MELA-AU 12 130883387 130883387 single base substitution G A 3_prime_UTR_variant MELA-AU 12 130883387 130883387 single base substitution G A downstream_gene_variant MELA-AU 12 130883387 130883387 single base substitution G A intron_variant MELA-AU 12 130883567 130883567 single base substitution T A 3_prime_UTR_variant MELA-AU 12 130883567 130883567 single base substitution T A downstream_gene_variant MELA-AU 12 130883567 130883567 single base substitution T A intron_variant MELA-AU 12 130883693 130883693 single base substitution T A downstream_gene_variant MELA-AU 12 130883693 130883693 single base substitution T A intron_variant MELA-AU 12 130883693 130883693 single base substitution T A missense_variant H1049L 3146A>T MELA-AU 12 130883928 130883929 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 130883928 130883929 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 130884027 130884027 single base substitution C T downstream_gene_variant MELA-AU 12 130884027 130884027 single base substitution C T intron_variant MELA-AU 12 130884150 130884150 single base substitution C T downstream_gene_variant MELA-AU 12 130884150 130884150 single base substitution C T intron_variant MELA-AU 12 130884253 130884253 single base substitution C T 3_prime_UTR_variant MELA-AU 12 130884253 130884253 single base substitution C T downstream_gene_variant MELA-AU 12 130884253 130884253 single base substitution C T missense_variant D1035N 3103G>A MELA-AU 12 130884578 130884578 single base substitution C T intron_variant MELA-AU 12 130884669 130884669 single base substitution C T intron_variant MELA-AU 12 130884728 130884728 single base substitution C T intron_variant MELA-AU 12 130885032 130885032 single base substitution C T intron_variant MELA-AU 12 130885075 130885075 single base substitution C T intron_variant MELA-AU 12 130885139 130885140 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 12 130885505 130885505 single base substitution C G intron_variant MELA-AU 12 130885699 130885699 single base substitution C T intron_variant MELA-AU 12 130886118 130886118 single base substitution T C intron_variant MELA-AU 12 130886241 130886241 single base substitution G A intron_variant MELA-AU 12 130886848 130886848 single base substitution C T intron_variant MELA-AU 12 130886884 130886884 single base substitution A G intron_variant MELA-AU 12 130886919 130886919 single base substitution C T intron_variant MELA-AU 12 130886998 130886998 single base substitution C T intron_variant MELA-AU 12 130887014 130887014 single base substitution C T intron_variant MELA-AU 12 130887020 130887020 single base substitution G A intron_variant MELA-AU 12 130887080 130887080 single base substitution C T intron_variant MELA-AU 12 130887080 130887081 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 130887136 130887136 single base substitution C T intron_variant MELA-AU 12 130887141 130887141 single base substitution C T intron_variant MELA-AU 12 130887275 130887275 single base substitution G A intron_variant MELA-AU 12 130887403 130887403 single base substitution G A intron_variant MELA-AU 12 130887423 130887423 single base substitution G A intron_variant MELA-AU 12 130887466 130887466 single base substitution G A intron_variant MELA-AU 12 130887469 130887469 single base substitution G A intron_variant MELA-AU 12 130887666 130887666 single base substitution C T intron_variant MELA-AU 12 130887786 130887786 single base substitution A G intron_variant MELA-AU 12 130888237 130888237 single base substitution G A intron_variant MELA-AU 12 130888417 130888417 single base substitution G A intron_variant MELA-AU 12 130888471 130888471 single base substitution C T intron_variant MELA-AU 12 130888825 130888825 single base substitution C T intron_variant MELA-AU 12 130888869 130888869 single base substitution G A intron_variant MELA-AU 12 130889045 130889045 single base substitution A G intron_variant MELA-AU 12 130889065 130889065 single base substitution G A intron_variant MELA-AU 12 130889170 130889170 single base substitution G A intron_variant MELA-AU 12 130889215 130889215 single base substitution G A intron_variant MELA-AU 12 130889353 130889353 single base substitution C A intron_variant MELA-AU 12 130889496 130889496 single base substitution G A intron_variant MELA-AU 12 130889605 130889605 single base substitution A C intron_variant MELA-AU 12 130889654 130889654 single base substitution G A intron_variant MELA-AU 12 130889660 130889660 single base substitution T A intron_variant MELA-AU 12 130890013 130890013 single base substitution C A intron_variant MELA-AU 12 130890089 130890089 single base substitution C T intron_variant MELA-AU 12 130890111 130890111 single base substitution C T intron_variant MELA-AU 12 130890119 130890119 single base substitution C T intron_variant MELA-AU 12 130890309 130890309 single base substitution A T intron_variant MELA-AU 12 130890596 130890596 single base substitution C T intron_variant MELA-AU 12 130890793 130890793 single base substitution G A splice_region_variant MELA-AU 12 130891032 130891032 single base substitution C T intron_variant MELA-AU 12 130891133 130891134 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 130891455 130891455 single base substitution G A intron_variant MELA-AU 12 130891684 130891684 single base substitution G A intron_variant MELA-AU 12 130892031 130892031 single base substitution G A intron_variant MELA-AU 12 130892087 130892087 single base substitution C T intron_variant MELA-AU 12 130892129 130892129 single base substitution C T intron_variant MELA-AU 12 130892144 130892144 single base substitution C T intron_variant MELA-AU 12 130892150 130892150 single base substitution C T intron_variant MELA-AU 12 130892306 130892306 single base substitution C T exon_variant MELA-AU 12 130892306 130892306 single base substitution C T missense_variant D101N 301G>A MELA-AU 12 130892306 130892306 single base substitution C T missense_variant D964N 2890G>A MELA-AU 12 130892332 130892332 single base substitution C T exon_variant MELA-AU 12 130892332 130892332 single base substitution C T missense_variant R92Q 275G>A MELA-AU 12 130892332 130892332 single base substitution C T missense_variant R955Q 2864G>A MELA-AU 12 130892591 130892591 single base substitution C T intron_variant MELA-AU 12 130892591 130892591 single base substitution C T upstream_gene_variant MELA-AU 12 130892611 130892611 single base substitution C T intron_variant MELA-AU 12 130892611 130892611 single base substitution C T upstream_gene_variant MELA-AU 12 130892927 130892927 single base substitution C T intron_variant MELA-AU 12 130892927 130892927 single base substitution C T upstream_gene_variant MELA-AU 12 130893101 130893101 single base substitution G A intron_variant MELA-AU 12 130893101 130893101 single base substitution G A upstream_gene_variant MELA-AU 12 130893210 130893210 single base substitution G A intron_variant MELA-AU 12 130893210 130893210 single base substitution G A upstream_gene_variant MELA-AU 12 130893264 130893264 single base substitution A T intron_variant MELA-AU 12 130893264 130893264 single base substitution A T upstream_gene_variant MELA-AU 12 130893324 130893324 single base substitution G A intron_variant MELA-AU 12 130893324 130893324 single base substitution G A upstream_gene_variant MELA-AU 12 130893329 130893329 single base substitution C T intron_variant MELA-AU 12 130893329 130893329 single base substitution C T upstream_gene_variant MELA-AU 12 130893572 130893572 single base substitution C T intron_variant MELA-AU 12 130893572 130893572 single base substitution C T upstream_gene_variant MELA-AU 12 130893745 130893745 single base substitution C T intron_variant MELA-AU 12 130893745 130893745 single base substitution C T upstream_gene_variant MELA-AU 12 130893937 130893937 single base substitution G A intron_variant MELA-AU 12 130893937 130893937 single base substitution G A upstream_gene_variant MELA-AU 12 130893991 130893991 single base substitution G A intron_variant MELA-AU 12 130893991 130893991 single base substitution G A upstream_gene_variant MELA-AU 12 130894017 130894017 single base substitution A G intron_variant MELA-AU 12 130894017 130894017 single base substitution A G upstream_gene_variant MELA-AU 12 130894147 130894147 single base substitution C A intron_variant MELA-AU 12 130894147 130894147 single base substitution C A upstream_gene_variant MELA-AU 12 130894308 130894308 single base substitution G A intron_variant MELA-AU 12 130894308 130894308 single base substitution G A upstream_gene_variant MELA-AU 12 130894850 130894850 single base substitution T A intron_variant MELA-AU 12 130894850 130894850 single base substitution T A upstream_gene_variant MELA-AU 12 130894876 130894876 single base substitution C T intron_variant MELA-AU 12 130894876 130894876 single base substitution C T upstream_gene_variant MELA-AU 12 130895109 130895109 single base substitution C T intron_variant MELA-AU 12 130895109 130895109 single base substitution C T upstream_gene_variant MELA-AU 12 130895226 130895226 single base substitution C T intron_variant MELA-AU 12 130895226 130895226 single base substitution C T upstream_gene_variant MELA-AU 12 130895534 130895534 single base substitution C T intron_variant MELA-AU 12 130895534 130895534 single base substitution C T upstream_gene_variant MELA-AU 12 130895709 130895709 single base substitution G A intron_variant MELA-AU 12 130895709 130895709 single base substitution G A upstream_gene_variant MELA-AU 12 130895780 130895780 single base substitution G A intron_variant MELA-AU 12 130895780 130895780 single base substitution G A upstream_gene_variant MELA-AU 12 130895803 130895803 single base substitution C T intron_variant MELA-AU 12 130895803 130895803 single base substitution C T upstream_gene_variant MELA-AU 12 130895842 130895842 single base substitution A G intron_variant MELA-AU 12 130895842 130895842 single base substitution A G upstream_gene_variant MELA-AU 12 130895845 130895845 single base substitution G A intron_variant MELA-AU 12 130895845 130895845 single base substitution G A upstream_gene_variant MELA-AU 12 130895847 130895847 single base substitution A G intron_variant MELA-AU 12 130895847 130895847 single base substitution A G upstream_gene_variant MELA-AU 12 130896235 130896235 single base substitution A C intron_variant MELA-AU 12 130896235 130896235 single base substitution A C upstream_gene_variant MELA-AU 12 130896274 130896274 single base substitution C T intron_variant MELA-AU 12 130896274 130896274 single base substitution C T upstream_gene_variant MELA-AU 12 130896401 130896401 single base substitution C T intron_variant MELA-AU 12 130896401 130896401 single base substitution C T upstream_gene_variant MELA-AU 12 130896737 130896737 single base substitution G A intron_variant MELA-AU 12 130896737 130896737 single base substitution G A upstream_gene_variant MELA-AU 12 130896783 130896783 single base substitution G A intron_variant MELA-AU 12 130896783 130896783 single base substitution G A upstream_gene_variant MELA-AU 12 130896924 130896924 single base substitution G A intron_variant MELA-AU 12 130896924 130896924 single base substitution G A upstream_gene_variant MELA-AU 12 130897025 130897025 single base substitution C T intron_variant MELA-AU 12 130897025 130897025 single base substitution C T upstream_gene_variant MELA-AU 12 130897122 130897122 single base substitution G A intron_variant MELA-AU 12 130897122 130897122 single base substitution G A upstream_gene_variant MELA-AU 12 130897209 130897209 single base substitution G A missense_variant L63F 187C>T MELA-AU 12 130897209 130897209 single base substitution G A missense_variant L926F 2776C>T MELA-AU 12 130897209 130897209 single base substitution G A upstream_gene_variant MELA-AU 12 130897227 130897227 single base substitution C T missense_variant E57K 169G>A MELA-AU 12 130897227 130897227 single base substitution C T missense_variant E920K 2758G>A MELA-AU 12 130897227 130897227 single base substitution C T upstream_gene_variant MELA-AU 12 130897230 130897230 single base substitution C T missense_variant E56K 166G>A MELA-AU 12 130897230 130897230 single base substitution C T missense_variant E919K 2755G>A MELA-AU 12 130897230 130897230 single base substitution C T upstream_gene_variant MELA-AU 12 130897233 130897233 single base substitution C T missense_variant D55N 163G>A MELA-AU 12 130897233 130897233 single base substitution C T missense_variant D918N 2752G>A MELA-AU 12 130897233 130897233 single base substitution C T upstream_gene_variant MELA-AU 12 130897803 130897803 single base substitution G A intron_variant MELA-AU 12 130897861 130897861 single base substitution C T intron_variant MELA-AU 12 130897954 130897954 single base substitution C T intron_variant MELA-AU 12 130898086 130898086 single base substitution G A intron_variant MELA-AU 12 130898113 130898113 single base substitution G A intron_variant MELA-AU 12 130898309 130898309 single base substitution C T intron_variant MELA-AU 12 130898381 130898381 single base substitution G A intron_variant MELA-AU 12 130898415 130898415 single base substitution C T intron_variant MELA-AU 12 130898538 130898538 single base substitution C T intron_variant MELA-AU 12 130898770 130898770 single base substitution C T 5_prime_UTR_variant MELA-AU 12 130898770 130898770 single base substitution C T missense_variant R851Q 2552G>A MELA-AU 12 130898839 130898839 single base substitution C T 5_prime_UTR_variant MELA-AU 12 130898839 130898839 single base substitution C T missense_variant R828Q 2483G>A MELA-AU 12 130898952 130898952 single base substitution C T 5_prime_UTR_variant MELA-AU 12 130898952 130898952 single base substitution C T intron_variant MELA-AU 12 130898982 130898982 single base substitution A C 5_prime_UTR_variant MELA-AU 12 130898982 130898982 single base substitution A C intron_variant MELA-AU 12 130898991 130898991 single base substitution G A 5_prime_UTR_variant MELA-AU 12 130898991 130898991 single base substitution G A intron_variant MELA-AU 12 130899225 130899225 single base substitution C T 5_prime_UTR_variant MELA-AU 12 130899225 130899225 single base substitution C T intron_variant MELA-AU 12 130899334 130899334 single base substitution A T intron_variant MELA-AU 12 130899334 130899334 single base substitution A T upstream_gene_variant MELA-AU 12 130899338 130899338 single base substitution C T intron_variant MELA-AU 12 130899338 130899338 single base substitution C T upstream_gene_variant MELA-AU 12 130899355 130899355 single base substitution C T intron_variant MELA-AU 12 130899355 130899355 single base substitution C T upstream_gene_variant MELA-AU 12 130899524 130899524 single base substitution G A intron_variant MELA-AU 12 130899524 130899524 single base substitution G A upstream_gene_variant MELA-AU 12 130899544 130899544 single base substitution A G intron_variant MELA-AU 12 130899544 130899544 single base substitution A G upstream_gene_variant MELA-AU 12 130899621 130899621 single base substitution C T intron_variant MELA-AU 12 130899621 130899621 single base substitution C T upstream_gene_variant MELA-AU 12 130899667 130899667 single base substitution C T intron_variant MELA-AU 12 130899667 130899667 single base substitution C T upstream_gene_variant MELA-AU 12 130899895 130899895 single base substitution C T intron_variant MELA-AU 12 130899895 130899895 single base substitution C T upstream_gene_variant MELA-AU 12 130899929 130899929 single base substitution G A intron_variant MELA-AU 12 130899929 130899929 single base substitution G A upstream_gene_variant MELA-AU 12 130899938 130899938 single base substitution G A intron_variant MELA-AU 12 130899938 130899938 single base substitution G A upstream_gene_variant MELA-AU 12 130900007 130900007 single base substitution G A intron_variant MELA-AU 12 130900007 130900007 single base substitution G A upstream_gene_variant MELA-AU 12 130900046 130900046 single base substitution G A intron_variant MELA-AU 12 130900046 130900046 single base substitution G A upstream_gene_variant MELA-AU 12 130900244 130900244 single base substitution A T intron_variant MELA-AU 12 130900244 130900244 single base substitution A T upstream_gene_variant MELA-AU 12 130900252 130900252 single base substitution A T intron_variant MELA-AU 12 130900252 130900252 single base substitution A T upstream_gene_variant MELA-AU 12 130900405 130900405 single base substitution G A intron_variant MELA-AU 12 130900405 130900405 single base substitution G A upstream_gene_variant MELA-AU 12 130900478 130900478 single base substitution C T intron_variant MELA-AU 12 130900478 130900478 single base substitution C T upstream_gene_variant MELA-AU 12 130900525 130900525 single base substitution A C intron_variant MELA-AU 12 130900525 130900525 single base substitution A C upstream_gene_variant MELA-AU 12 130900779 130900779 single base substitution C T intron_variant MELA-AU 12 130900779 130900779 single base substitution C T upstream_gene_variant MELA-AU 12 130900810 130900810 single base substitution G A intron_variant MELA-AU 12 130900810 130900810 single base substitution G A upstream_gene_variant MELA-AU 12 130901060 130901060 single base substitution A T intron_variant MELA-AU 12 130901060 130901060 single base substitution A T upstream_gene_variant MELA-AU 12 130901129 130901129 single base substitution C T intron_variant MELA-AU 12 130901129 130901129 single base substitution C T upstream_gene_variant MELA-AU 12 130901166 130901166 single base substitution C T intron_variant MELA-AU 12 130901166 130901166 single base substitution C T upstream_gene_variant MELA-AU 12 130901182 130901182 single base substitution G A intron_variant MELA-AU 12 130901182 130901182 single base substitution G A upstream_gene_variant MELA-AU 12 130901681 130901681 single base substitution C T intron_variant MELA-AU 12 130901681 130901681 single base substitution C T upstream_gene_variant MELA-AU 12 130901695 130901695 single base substitution G A intron_variant MELA-AU 12 130901695 130901695 single base substitution G A upstream_gene_variant MELA-AU 12 130901711 130901711 single base substitution C T intron_variant MELA-AU 12 130901711 130901711 single base substitution C T upstream_gene_variant MELA-AU 12 130901739 130901739 single base substitution G A intron_variant MELA-AU 12 130901739 130901739 single base substitution G A upstream_gene_variant MELA-AU 12 130902156 130902156 single base substitution C T intron_variant MELA-AU 12 130902156 130902156 single base substitution C T upstream_gene_variant MELA-AU 12 130902607 130902607 single base substitution G A intron_variant MELA-AU 12 130902607 130902607 single base substitution G A upstream_gene_variant MELA-AU 12 130902611 130902611 single base substitution G A intron_variant MELA-AU 12 130902611 130902611 single base substitution G A upstream_gene_variant MELA-AU 12 130902629 130902629 single base substitution G A intron_variant MELA-AU 12 130902629 130902629 single base substitution G A upstream_gene_variant MELA-AU 12 130903118 130903118 single base substitution G A intron_variant MELA-AU 12 130903118 130903118 single base substitution G A upstream_gene_variant MELA-AU 12 130903274 130903274 single base substitution C T intron_variant MELA-AU 12 130903274 130903274 single base substitution C T upstream_gene_variant MELA-AU 12 130903284 130903284 single base substitution C T intron_variant MELA-AU 12 130903284 130903284 single base substitution C T upstream_gene_variant MELA-AU 12 130903368 130903368 single base substitution T C intron_variant MELA-AU 12 130903368 130903368 single base substitution T C upstream_gene_variant MELA-AU 12 130903441 130903441 single base substitution G A intron_variant MELA-AU 12 130903441 130903441 single base substitution G A upstream_gene_variant MELA-AU 12 130903467 130903467 single base substitution G A intron_variant MELA-AU 12 130903467 130903467 single base substitution G A upstream_gene_variant MELA-AU 12 130903481 130903481 single base substitution G A intron_variant MELA-AU 12 130903481 130903481 single base substitution G A upstream_gene_variant MELA-AU 12 130903515 130903515 single base substitution G A intron_variant MELA-AU 12 130903515 130903515 single base substitution G A upstream_gene_variant MELA-AU 12 130903529 130903529 single base substitution G A intron_variant MELA-AU 12 130903529 130903529 single base substitution G A upstream_gene_variant MELA-AU 12 130903640 130903640 single base substitution C T intron_variant MELA-AU 12 130903640 130903640 single base substitution C T upstream_gene_variant MELA-AU 12 130903832 130903832 single base substitution G A intron_variant MELA-AU 12 130903832 130903832 single base substitution G A upstream_gene_variant MELA-AU 12 130903881 130903881 single base substitution C T intron_variant MELA-AU 12 130903881 130903881 single base substitution C T upstream_gene_variant MELA-AU 12 130903979 130903979 single base substitution C T intron_variant MELA-AU 12 130903979 130903979 single base substitution C T upstream_gene_variant MELA-AU 12 130904097 130904097 single base substitution G T intron_variant MELA-AU 12 130904097 130904097 single base substitution G T upstream_gene_variant MELA-AU 12 130904293 130904293 single base substitution C T intron_variant MELA-AU 12 130904569 130904569 single base substitution C T intron_variant MELA-AU 12 130904665 130904665 single base substitution G A intron_variant MELA-AU 12 130904950 130904950 single base substitution G A intron_variant MELA-AU 12 130905091 130905091 single base substitution T G intron_variant MELA-AU 12 130905128 130905128 single base substitution G A intron_variant MELA-AU 12 130905352 130905352 single base substitution G A intron_variant MELA-AU 12 130905556 130905556 single base substitution G A intron_variant MELA-AU 12 130905611 130905611 single base substitution G A intron_variant MELA-AU 12 130905656 130905656 single base substitution G A intron_variant MELA-AU 12 130905911 130905911 single base substitution G A intron_variant MELA-AU 12 130906166 130906166 single base substitution C T intron_variant MELA-AU 12 130906361 130906361 single base substitution C T intron_variant MELA-AU 12 130906555 130906555 single base substitution C T intron_variant MELA-AU 12 130906766 130906766 single base substitution G A intron_variant MELA-AU 12 130906958 130906958 single base substitution C T intron_variant MELA-AU 12 130907052 130907052 single base substitution G A missense_variant P806S 2416C>T MELA-AU 12 130907528 130907528 single base substitution C T intron_variant MELA-AU 12 130907663 130907663 single base substitution C T intron_variant MELA-AU 12 130907704 130907704 single base substitution G A intron_variant MELA-AU 12 130907912 130907912 single base substitution C T intron_variant MELA-AU 12 130908110 130908110 single base substitution C T intron_variant MELA-AU 12 130908130 130908130 single base substitution G A intron_variant MELA-AU 12 130908171 130908171 single base substitution G A intron_variant MELA-AU 12 130908669 130908669 single base substitution G A intron_variant MELA-AU 12 130908779 130908779 single base substitution G A intron_variant MELA-AU 12 130908963 130908963 single base substitution C A intron_variant MELA-AU 12 130908969 130908969 single base substitution G A intron_variant MELA-AU 12 130908977 130908977 single base substitution G A intron_variant MELA-AU 12 130909068 130909068 single base substitution G A intron_variant MELA-AU 12 130909101 130909101 single base substitution C T intron_variant MELA-AU 12 130909162 130909162 single base substitution G A intron_variant MELA-AU 12 130909187 130909187 single base substitution C T intron_variant MELA-AU 12 130909190 130909190 single base substitution C T intron_variant MELA-AU 12 130909327 130909327 single base substitution C T intron_variant MELA-AU 12 130909571 130909571 deletion of <=200bp T - intron_variant MELA-AU 12 130909693 130909693 single base substitution C T intron_variant MELA-AU 12 130910084 130910084 single base substitution C T intron_variant MELA-AU 12 130910130 130910130 single base substitution G A intron_variant MELA-AU 12 130910188 130910188 single base substitution C T intron_variant MELA-AU 12 130910339 130910339 single base substitution G A intron_variant MELA-AU 12 130910602 130910602 single base substitution C T intron_variant MELA-AU 12 130910695 130910695 single base substitution T C intron_variant MELA-AU 12 130910699 130910699 single base substitution G A intron_variant MELA-AU 12 130910745 130910745 single base substitution C A intron_variant MELA-AU 12 130910746 130910746 single base substitution G A intron_variant MELA-AU 12 130911021 130911021 single base substitution C T intron_variant MELA-AU 12 130911035 130911035 single base substitution G A intron_variant MELA-AU 12 130911045 130911045 single base substitution G A intron_variant MELA-AU 12 130911058 130911058 single base substitution C T intron_variant MELA-AU 12 130911358 130911358 single base substitution C T downstream_gene_variant MELA-AU 12 130911358 130911358 single base substitution C T intron_variant MELA-AU 12 130911364 130911364 single base substitution C T downstream_gene_variant MELA-AU 12 130911364 130911364 single base substitution C T intron_variant MELA-AU 12 130911417 130911417 single base substitution C T downstream_gene_variant MELA-AU 12 130911417 130911417 single base substitution C T intron_variant MELA-AU 12 130911432 130911432 single base substitution G A downstream_gene_variant MELA-AU 12 130911432 130911432 single base substitution G A intron_variant MELA-AU 12 130911433 130911433 single base substitution G A downstream_gene_variant MELA-AU 12 130911433 130911433 single base substitution G A intron_variant MELA-AU 12 130911444 130911444 single base substitution G A downstream_gene_variant MELA-AU 12 130911444 130911444 single base substitution G A intron_variant MELA-AU 12 130911522 130911522 single base substitution C T downstream_gene_variant MELA-AU 12 130911522 130911522 single base substitution C T intron_variant MELA-AU 12 130911560 130911560 single base substitution G T downstream_gene_variant MELA-AU 12 130911560 130911560 single base substitution G T intron_variant MELA-AU 12 130911631 130911631 single base substitution C T downstream_gene_variant MELA-AU 12 130911631 130911631 single base substitution C T intron_variant MELA-AU 12 130911639 130911639 single base substitution C T downstream_gene_variant MELA-AU 12 130911639 130911639 single base substitution C T intron_variant MELA-AU 12 130911796 130911796 single base substitution G A downstream_gene_variant MELA-AU 12 130911796 130911796 single base substitution G A intron_variant MELA-AU 12 130911800 130911800 single base substitution T A downstream_gene_variant MELA-AU 12 130911800 130911800 single base substitution T A intron_variant MELA-AU 12 130911988 130911988 single base substitution G A downstream_gene_variant MELA-AU 12 130911988 130911988 single base substitution G A intron_variant MELA-AU 12 130912069 130912069 single base substitution C T downstream_gene_variant MELA-AU 12 130912069 130912069 single base substitution C T intron_variant MELA-AU 12 130912070 130912070 single base substitution C A downstream_gene_variant MELA-AU 12 130912070 130912070 single base substitution C A intron_variant MELA-AU 12 130912101 130912101 single base substitution C T downstream_gene_variant MELA-AU 12 130912101 130912101 single base substitution C T intron_variant MELA-AU 12 130912164 130912164 single base substitution C T downstream_gene_variant MELA-AU 12 130912164 130912164 single base substitution C T intron_variant MELA-AU 12 130912171 130912171 single base substitution G A downstream_gene_variant MELA-AU 12 130912171 130912171 single base substitution G A intron_variant MELA-AU 12 130912247 130912247 single base substitution C T downstream_gene_variant MELA-AU 12 130912247 130912247 single base substitution C T intron_variant MELA-AU 12 130912290 130912290 single base substitution G A downstream_gene_variant MELA-AU 12 130912290 130912290 single base substitution G A intron_variant MELA-AU 12 130912442 130912442 single base substitution C T downstream_gene_variant MELA-AU 12 130912442 130912442 single base substitution C T intron_variant MELA-AU 12 130912443 130912443 single base substitution C T downstream_gene_variant MELA-AU 12 130912443 130912443 single base substitution C T intron_variant MELA-AU 12 130912502 130912502 single base substitution C T downstream_gene_variant MELA-AU 12 130912502 130912502 single base substitution C T intron_variant MELA-AU 12 130912691 130912691 single base substitution G A downstream_gene_variant MELA-AU 12 130912691 130912691 single base substitution G A intron_variant MELA-AU 12 130913306 130913306 single base substitution G A downstream_gene_variant MELA-AU 12 130913306 130913306 single base substitution G A intron_variant MELA-AU 12 130913535 130913536 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 130913535 130913536 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 130914214 130914214 single base substitution C T downstream_gene_variant MELA-AU 12 130914214 130914214 single base substitution C T intron_variant MELA-AU 12 130914304 130914304 single base substitution C T downstream_gene_variant MELA-AU 12 130914304 130914304 single base substitution C T intron_variant MELA-AU 12 130914479 130914479 single base substitution C T downstream_gene_variant MELA-AU 12 130914479 130914479 single base substitution C T intron_variant MELA-AU 12 130914709 130914709 single base substitution G A downstream_gene_variant MELA-AU 12 130914709 130914709 single base substitution G A intron_variant MELA-AU 12 130914842 130914842 single base substitution C T downstream_gene_variant MELA-AU 12 130914842 130914842 single base substitution C T intron_variant MELA-AU 12 130914882 130914882 single base substitution C T downstream_gene_variant MELA-AU 12 130914882 130914882 single base substitution C T intron_variant MELA-AU 12 130914891 130914891 single base substitution C T downstream_gene_variant MELA-AU 12 130914891 130914891 single base substitution C T intron_variant MELA-AU 12 130914922 130914922 single base substitution T C downstream_gene_variant MELA-AU 12 130914922 130914922 single base substitution T C intron_variant MELA-AU 12 130915162 130915162 single base substitution G A downstream_gene_variant MELA-AU 12 130915162 130915162 single base substitution G A intron_variant MELA-AU 12 130915344 130915344 single base substitution T A downstream_gene_variant MELA-AU 12 130915344 130915344 single base substitution T A intron_variant MELA-AU 12 130915556 130915556 single base substitution G A downstream_gene_variant MELA-AU 12 130915556 130915556 single base substitution G A intron_variant MELA-AU 12 130915711 130915711 single base substitution C T downstream_gene_variant MELA-AU 12 130915711 130915711 single base substitution C T intron_variant MELA-AU 12 130915766 130915766 single base substitution G A downstream_gene_variant MELA-AU 12 130915766 130915766 single base substitution G A intron_variant MELA-AU 12 130915831 130915831 single base substitution G A downstream_gene_variant MELA-AU 12 130915831 130915831 single base substitution G A intron_variant MELA-AU 12 130915889 130915889 single base substitution G A downstream_gene_variant MELA-AU 12 130915889 130915889 single base substitution G A intron_variant MELA-AU 12 130915904 130915904 single base substitution C T downstream_gene_variant MELA-AU 12 130915904 130915904 single base substitution C T intron_variant MELA-AU 12 130916072 130916072 single base substitution G A downstream_gene_variant MELA-AU 12 130916072 130916072 single base substitution G A intron_variant MELA-AU 12 130916221 130916221 single base substitution G A 3_prime_UTR_variant MELA-AU 12 130916221 130916221 single base substitution G A intron_variant MELA-AU 12 130916516 130916516 single base substitution C T 3_prime_UTR_variant MELA-AU 12 130916516 130916516 single base substitution C T intron_variant MELA-AU 12 130916671 130916671 single base substitution C T 3_prime_UTR_variant MELA-AU 12 130916671 130916671 single base substitution C T intron_variant MELA-AU 12 130916767 130916767 single base substitution G A 3_prime_UTR_variant MELA-AU 12 130916767 130916767 single base substitution G A intron_variant MELA-AU 12 130916772 130916772 single base substitution T A 3_prime_UTR_variant MELA-AU 12 130916772 130916772 single base substitution T A intron_variant MELA-AU 12 130916804 130916804 single base substitution C T 3_prime_UTR_variant MELA-AU 12 130916804 130916804 single base substitution C T intron_variant MELA-AU 12 130916865 130916865 single base substitution C T intron_variant MELA-AU 12 130916880 130916880 single base substitution A C intron_variant MELA-AU 12 130916884 130916884 single base substitution G A intron_variant MELA-AU 12 130916989 130916989 single base substitution G T intron_variant MELA-AU 12 130917094 130917094 single base substitution G A intron_variant MELA-AU 12 130917154 130917154 single base substitution C T intron_variant MELA-AU 12 130917207 130917207 single base substitution G A intron_variant MELA-AU 12 130917217 130917217 single base substitution A C intron_variant MELA-AU 12 130917461 130917461 single base substitution G A intron_variant MELA-AU 12 130917708 130917708 single base substitution C T intron_variant MELA-AU 12 130917841 130917841 single base substitution C T intron_variant MELA-AU 12 130917843 130917843 single base substitution C T intron_variant MELA-AU 12 130917908 130917908 single base substitution C T intron_variant MELA-AU 12 130917917 130917917 single base substitution G A intron_variant MELA-AU 12 130917988 130917988 single base substitution C T intron_variant MELA-AU 12 130918147 130918147 single base substitution G A intron_variant MELA-AU 12 130918245 130918245 single base substitution C T intron_variant MELA-AU 12 130918254 130918254 single base substitution C T intron_variant MELA-AU 12 130918385 130918385 single base substitution C T intron_variant MELA-AU 12 130918395 130918395 single base substitution C A intron_variant MELA-AU 12 130918524 130918524 single base substitution G A intron_variant MELA-AU 12 130918765 130918765 single base substitution C T intron_variant MELA-AU 12 130918783 130918783 single base substitution C T intron_variant MELA-AU 12 130918887 130918887 single base substitution C G intron_variant MELA-AU 12 130918987 130918987 single base substitution C T intron_variant MELA-AU 12 130918996 130918996 single base substitution G A intron_variant MELA-AU 12 130919052 130919052 single base substitution G A intron_variant MELA-AU 12 130919075 130919075 single base substitution C T intron_variant MELA-AU 12 130919123 130919123 single base substitution G A intron_variant MELA-AU 12 130919173 130919173 single base substitution G A intron_variant MELA-AU 12 130919183 130919183 single base substitution G A intron_variant MELA-AU 12 130919260 130919261 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 130919266 130919266 single base substitution G A intron_variant MELA-AU 12 130919293 130919293 single base substitution C T missense_variant E638K 1912G>A MELA-AU 12 130919293 130919293 single base substitution C T missense_variant E730K 2188G>A MELA-AU 12 130919306 130919306 single base substitution G A synonymous_variant F633F 1899C>T MELA-AU 12 130919306 130919306 single base substitution G A synonymous_variant F725F 2175C>T MELA-AU 12 130919360 130919360 single base substitution C T synonymous_variant E615E 1845G>A MELA-AU 12 130919360 130919360 single base substitution C T synonymous_variant E707E 2121G>A MELA-AU 12 130919681 130919681 single base substitution C A intron_variant MELA-AU 12 130919713 130919713 single base substitution C T intron_variant MELA-AU 12 130919758 130919758 single base substitution G A intron_variant MELA-AU 12 130919857 130919857 single base substitution G A intron_variant MELA-AU 12 130920095 130920095 single base substitution C T intron_variant MELA-AU 12 130920200 130920200 single base substitution G A intron_variant MELA-AU 12 130920309 130920309 single base substitution C T intron_variant MELA-AU 12 130920318 130920318 single base substitution C T intron_variant MELA-AU 12 130920504 130920504 single base substitution G A intron_variant MELA-AU 12 130920516 130920516 single base substitution G A intron_variant MELA-AU 12 130920728 130920728 single base substitution G A intron_variant MELA-AU 12 130920750 130920750 single base substitution C T intron_variant MELA-AU 12 130920768 130920768 single base substitution G A intron_variant MELA-AU 12 130920787 130920787 single base substitution C T intron_variant MELA-AU 12 130921221 130921221 single base substitution G A intron_variant MELA-AU 12 130921290 130921290 single base substitution G A intron_variant MELA-AU 12 130921336 130921336 single base substitution C T intron_variant MELA-AU 12 130921337 130921337 single base substitution C T intron_variant MELA-AU 12 130921377 130921377 single base substitution C T intron_variant MELA-AU 12 130921492 130921492 single base substitution G A synonymous_variant P558P 1674C>T MELA-AU 12 130921492 130921492 single base substitution G A synonymous_variant P650P 1950C>T MELA-AU 12 130921498 130921498 single base substitution C T synonymous_variant R556R 1668G>A MELA-AU 12 130921498 130921498 single base substitution C T synonymous_variant R648R 1944G>A MELA-AU 12 130921625 130921625 single base substitution C T missense_variant G514E 1541G>A MELA-AU 12 130921625 130921625 single base substitution C T missense_variant G606E 1817G>A MELA-AU 12 130921902 130921902 single base substitution C T intron_variant MELA-AU 12 130922037 130922037 single base substitution C T intron_variant MELA-AU 12 130922079 130922079 single base substitution C T intron_variant MELA-AU 12 130922140 130922140 single base substitution G A intron_variant MELA-AU 12 130922178 130922178 single base substitution G A intron_variant MELA-AU 12 130922392 130922392 single base substitution T G intron_variant MELA-AU 12 130922444 130922444 single base substitution G A intron_variant MELA-AU 12 130922445 130922445 single base substitution G A intron_variant MELA-AU 12 130922501 130922501 single base substitution C T intron_variant MELA-AU 12 130922606 130922606 single base substitution G A intron_variant MELA-AU 12 130922700 130922701 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 130922807 130922807 single base substitution G A intron_variant MELA-AU 12 130923176 130923176 single base substitution G A intron_variant MELA-AU 12 130923184 130923184 single base substitution G A intron_variant MELA-AU 12 130923351 130923351 single base substitution C T intron_variant MELA-AU 12 130923353 130923353 single base substitution G A intron_variant MELA-AU 12 130923759 130923759 single base substitution G A intron_variant MELA-AU 12 130923988 130923988 single base substitution G A intron_variant MELA-AU 12 130924361 130924361 single base substitution G A intron_variant MELA-AU 12 130924605 130924605 single base substitution C T intron_variant MELA-AU 12 130924782 130924783 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 130924783 130924783 single base substitution C T intron_variant MELA-AU 12 130924793 130924793 single base substitution C T intron_variant MELA-AU 12 130924920 130924920 single base substitution C T intron_variant MELA-AU 12 130925002 130925002 single base substitution G A intron_variant MELA-AU 12 130925065 130925065 single base substitution C T intron_variant MELA-AU 12 130925089 130925089 single base substitution C T intron_variant MELA-AU 12 130925157 130925157 single base substitution C T intron_variant MELA-AU 12 130925217 130925217 single base substitution C T intron_variant MELA-AU 12 130925229 130925229 single base substitution G A intron_variant MELA-AU 12 130925238 130925238 single base substitution C T intron_variant MELA-AU 12 130925253 130925253 single base substitution G A intron_variant MELA-AU 12 130925255 130925255 single base substitution A C intron_variant MELA-AU 12 130925265 130925265 single base substitution C T intron_variant MELA-AU 12 130925487 130925487 single base substitution A C intron_variant MELA-AU 12 130925636 130925636 single base substitution G A intron_variant MELA-AU 12 130925712 130925712 single base substitution C T intron_variant MELA-AU 12 130925730 130925730 single base substitution G A intron_variant MELA-AU 12 130925978 130925978 single base substitution A T intron_variant MELA-AU 12 130926011 130926011 single base substitution G A intron_variant MELA-AU 12 130926104 130926104 single base substitution A G intron_variant MELA-AU 12 130926118 130926118 single base substitution G A intron_variant MELA-AU 12 130926121 130926121 single base substitution G A intron_variant MELA-AU 12 130926130 130926130 single base substitution C T intron_variant MELA-AU 12 130926134 130926134 single base substitution C T intron_variant MELA-AU 12 130926215 130926215 single base substitution G A intron_variant MELA-AU 12 130926288 130926289 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 130926327 130926327 single base substitution C T intron_variant MELA-AU 12 130926570 130926570 single base substitution C T missense_variant E334K 1000G>A MELA-AU 12 130926570 130926570 single base substitution C T missense_variant E426K 1276G>A MELA-AU 12 130926716 130926716 single base substitution G A missense_variant S285L 854C>T MELA-AU 12 130926716 130926716 single base substitution G A missense_variant S377L 1130C>T MELA-AU 12 130926871 130926871 single base substitution T G synonymous_variant G233G 699A>C MELA-AU 12 130926871 130926871 single base substitution T G synonymous_variant G325G 975A>C MELA-AU 12 130926958 130926958 single base substitution G A synonymous_variant I204I 612C>T MELA-AU 12 130926958 130926958 single base substitution G A synonymous_variant I296I 888C>T MELA-AU 12 130926975 130926975 single base substitution C T missense_variant D199N 595G>A MELA-AU 12 130926975 130926975 single base substitution C T missense_variant D291N 871G>A MELA-AU 12 130927011 130927011 single base substitution C T missense_variant D187N 559G>A MELA-AU 12 130927011 130927011 single base substitution C T missense_variant D279N 835G>A MELA-AU 12 130927051 130927051 single base substitution C T synonymous_variant L173L 519G>A MELA-AU 12 130927051 130927051 single base substitution C T synonymous_variant L265L 795G>A MELA-AU 12 130927065 130927065 single base substitution C T missense_variant G169R 505G>A MELA-AU 12 130927065 130927065 single base substitution C T missense_variant G261R 781G>A MELA-AU 12 130927197 130927197 single base substitution G A missense_variant L125F 373C>T MELA-AU 12 130927197 130927197 single base substitution G A missense_variant L217F 649C>T MELA-AU 12 130927224 130927224 single base substitution G A intron_variant MELA-AU 12 130927232 130927232 single base substitution A C intron_variant MELA-AU 12 130927274 130927274 single base substitution C T intron_variant MELA-AU 12 130927291 130927291 single base substitution G A intron_variant MELA-AU 12 130927293 130927293 single base substitution C T intron_variant MELA-AU 12 130927339 130927339 single base substitution C T intron_variant MELA-AU 12 130927343 130927343 single base substitution G A intron_variant MELA-AU 12 130927435 130927435 single base substitution C T intron_variant MELA-AU 12 130927498 130927498 single base substitution G A intron_variant MELA-AU 12 130927512 130927512 single base substitution G A intron_variant MELA-AU 12 130927654 130927654 single base substitution G A intron_variant MELA-AU 12 130927720 130927720 single base substitution G A intron_variant MELA-AU 12 130927872 130927872 single base substitution A G intron_variant MELA-AU 12 130927937 130927937 single base substitution G A intron_variant MELA-AU 12 130928013 130928013 single base substitution C T intron_variant MELA-AU 12 130928071 130928071 single base substitution G A intron_variant MELA-AU 12 130928140 130928140 single base substitution G T intron_variant MELA-AU 12 130928253 130928253 single base substitution G A intron_variant MELA-AU 12 130928271 130928271 single base substitution C T intron_variant MELA-AU 12 130928352 130928352 single base substitution G A intron_variant MELA-AU 12 130928423 130928423 single base substitution C T intron_variant MELA-AU 12 130928533 130928533 single base substitution G A intron_variant MELA-AU 12 130928730 130928730 single base substitution G A intron_variant MELA-AU 12 130928766 130928766 single base substitution G A intron_variant MELA-AU 12 130929070 130929070 single base substitution G A intron_variant MELA-AU 12 130929327 130929327 single base substitution C G intron_variant MELA-AU 12 130929407 130929407 single base substitution C T intron_variant MELA-AU 12 130929525 130929525 single base substitution C T intron_variant MELA-AU 12 130929563 130929563 single base substitution G A intron_variant MELA-AU 12 130929639 130929639 single base substitution G A intron_variant MELA-AU 12 130929727 130929727 single base substitution C T missense_variant M114I 342G>A MELA-AU 12 130929727 130929727 single base substitution C T missense_variant M206I 618G>A MELA-AU 12 130929789 130929789 single base substitution C T missense_variant E186K 556G>A MELA-AU 12 130929789 130929789 single base substitution C T missense_variant E94K 280G>A MELA-AU 12 130929801 130929801 single base substitution C T missense_variant D182N 544G>A MELA-AU 12 130929801 130929801 single base substitution C T missense_variant D90N 268G>A MELA-AU 12 130929852 130929852 single base substitution G A intron_variant MELA-AU 12 130929911 130929911 single base substitution C T intron_variant MELA-AU 12 130929916 130929916 single base substitution C T intron_variant MELA-AU 12 130929922 130929922 single base substitution G A intron_variant MELA-AU 12 130930441 130930441 single base substitution C T intron_variant MELA-AU 12 130930470 130930470 single base substitution G A intron_variant MELA-AU 12 130930547 130930547 single base substitution G A intron_variant MELA-AU 12 130930652 130930652 single base substitution C T intron_variant MELA-AU 12 130930977 130930977 single base substitution C T intron_variant MELA-AU 12 130931189 130931189 single base substitution G A intron_variant MELA-AU 12 130931258 130931258 single base substitution G A intron_variant MELA-AU 12 130931267 130931267 single base substitution G A intron_variant MELA-AU 12 130931295 130931295 single base substitution G A intron_variant MELA-AU 12 130931505 130931505 single base substitution C T intron_variant MELA-AU 12 130931719 130931719 single base substitution G A intron_variant MELA-AU 12 130931720 130931720 single base substitution G A intron_variant MELA-AU 12 130931822 130931822 single base substitution A G intron_variant MELA-AU 12 130931859 130931859 single base substitution C T intron_variant MELA-AU 12 130931970 130931970 single base substitution C T intron_variant MELA-AU 12 130932057 130932057 single base substitution G A intron_variant MELA-AU 12 130932077 130932077 single base substitution G A intron_variant MELA-AU 12 130932098 130932098 single base substitution G A intron_variant MELA-AU 12 130932110 130932110 single base substitution G A intron_variant MELA-AU 12 130932151 130932151 single base substitution C T intron_variant MELA-AU 12 130932200 130932200 single base substitution G A intron_variant MELA-AU 12 130932204 130932204 single base substitution G A intron_variant MELA-AU 12 130932242 130932242 single base substitution G A intron_variant MELA-AU 12 130932300 130932300 single base substitution C T intron_variant MELA-AU 12 130932345 130932345 single base substitution G C intron_variant MELA-AU 12 130932364 130932364 single base substitution G A intron_variant MELA-AU 12 130932447 130932447 single base substitution C T intron_variant MELA-AU 12 130932511 130932511 single base substitution C T intron_variant MELA-AU 12 130932566 130932566 single base substitution G A intron_variant MELA-AU 12 130932593 130932593 single base substitution G A intron_variant MELA-AU 12 130932833 130932833 single base substitution C T intron_variant MELA-AU 12 130932981 130932981 single base substitution G A intron_variant MELA-AU 12 130933587 130933587 single base substitution G A intron_variant MELA-AU 12 130933957 130933957 single base substitution C T intron_variant MELA-AU 12 130933963 130933963 single base substitution G A intron_variant MELA-AU 12 130933981 130933981 single base substitution C A intron_variant MELA-AU 12 130933992 130933992 single base substitution G A intron_variant MELA-AU 12 130934054 130934054 single base substitution G A intron_variant MELA-AU 12 130934055 130934055 single base substitution G A intron_variant MELA-AU 12 130934061 130934061 single base substitution G A intron_variant MELA-AU 12 130934062 130934062 single base substitution G A intron_variant MELA-AU 12 130934091 130934091 single base substitution C T intron_variant MELA-AU 12 130934098 130934099 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 130934127 130934127 single base substitution C T intron_variant MELA-AU 12 130934386 130934386 single base substitution G A intron_variant MELA-AU 12 130934436 130934436 single base substitution G A intron_variant MELA-AU 12 130934469 130934469 single base substitution C T intron_variant MELA-AU 12 130934620 130934620 single base substitution G A intron_variant MELA-AU 12 130934687 130934687 single base substitution C T intron_variant MELA-AU 12 130934713 130934713 single base substitution G A intron_variant MELA-AU 12 130934818 130934818 single base substitution C T missense_variant E153K 457G>A MELA-AU 12 130934818 130934818 single base substitution C T missense_variant E61K 181G>A MELA-AU 12 130934832 130934834 multiple base substitution (>=2bp and <=200bp) GGC AAA intron_variant MELA-AU 12 130934879 130934879 single base substitution C T intron_variant MELA-AU 12 130934879 130934880 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 130935115 130935115 single base substitution C T intron_variant MELA-AU 12 130935148 130935148 single base substitution G A intron_variant MELA-AU 12 130935339 130935339 single base substitution G A intron_variant MELA-AU 12 130935479 130935479 single base substitution G A intron_variant MELA-AU 12 130935559 130935559 single base substitution G A intron_variant MELA-AU 12 130935574 130935574 single base substitution C T intron_variant MELA-AU 12 130935619 130935619 single base substitution A G intron_variant MELA-AU 12 130935642 130935642 single base substitution G A intron_variant MELA-AU 12 130935894 130935894 single base substitution G A intron_variant MELA-AU 12 130936023 130936023 single base substitution C A intron_variant MELA-AU 12 130936076 130936076 single base substitution C T intron_variant MELA-AU 12 130936092 130936092 single base substitution G A intron_variant MELA-AU 12 130936185 130936185 single base substitution C T intron_variant MELA-AU 12 130936304 130936304 single base substitution G A intron_variant MELA-AU 12 130936537 130936537 single base substitution C T intron_variant MELA-AU 12 130936657 130936657 single base substitution G A intron_variant MELA-AU 12 130936669 130936669 single base substitution G A intron_variant MELA-AU 12 130936674 130936674 single base substitution G A intron_variant MELA-AU 12 130936681 130936681 single base substitution T C intron_variant MELA-AU 12 130936682 130936682 single base substitution C T intron_variant MELA-AU 12 130936686 130936686 single base substitution C T intron_variant MELA-AU 12 130936725 130936725 single base substitution C T intron_variant MELA-AU 12 130936737 130936737 single base substitution G A intron_variant MELA-AU 12 130936739 130936739 single base substitution C T intron_variant MELA-AU 12 130936875 130936875 single base substitution A T intron_variant MELA-AU 12 130936949 130936949 single base substitution C T intron_variant MELA-AU 12 130937051 130937051 single base substitution G A intron_variant MELA-AU 12 130937230 130937230 single base substitution C T intron_variant MELA-AU 12 130937246 130937246 single base substitution G A intron_variant MELA-AU 12 130937441 130937441 single base substitution G A intron_variant MELA-AU 12 130937660 130937660 single base substitution C T intron_variant MELA-AU 12 130937672 130937672 single base substitution G A intron_variant MELA-AU 12 130937728 130937728 single base substitution C T intron_variant MELA-AU 12 130937801 130937801 single base substitution C T intron_variant MELA-AU 12 130937863 130937863 single base substitution G A intron_variant MELA-AU 12 130938145 130938145 single base substitution G A intron_variant MELA-AU 12 130938272 130938272 single base substitution G A intron_variant MELA-AU 12 130938346 130938346 single base substitution C T intron_variant MELA-AU 12 130938481 130938481 single base substitution C T intron_variant MELA-AU 12 130938526 130938526 single base substitution G A intron_variant MELA-AU 12 130938762 130938762 single base substitution G A intron_variant MELA-AU 12 130938828 130938828 single base substitution C T intron_variant MELA-AU 12 130938830 130938830 single base substitution C T intron_variant MELA-AU 12 130939535 130939535 single base substitution C T intron_variant MELA-AU 12 130939609 130939609 single base substitution G A intron_variant MELA-AU 12 130939641 130939641 single base substitution C T intron_variant MELA-AU 12 130939681 130939681 single base substitution G A intron_variant MELA-AU 12 130939806 130939806 single base substitution G A intron_variant MELA-AU 12 130939940 130939940 single base substitution G A intron_variant MELA-AU 12 130939978 130939978 single base substitution G A intron_variant MELA-AU 12 130940061 130940061 single base substitution G A intron_variant MELA-AU 12 130940091 130940091 single base substitution C T intron_variant MELA-AU 12 130940181 130940181 single base substitution A C intron_variant MELA-AU 12 130940243 130940243 single base substitution G A intron_variant MELA-AU 12 130940274 130940274 single base substitution C T intron_variant MELA-AU 12 130940296 130940296 single base substitution A C intron_variant MELA-AU 12 130940439 130940439 single base substitution C T intron_variant MELA-AU 12 130940717 130940717 single base substitution C T intron_variant MELA-AU 12 130940787 130940787 single base substitution C T intron_variant MELA-AU 12 130940800 130940812 deletion of <=200bp GGCCCATTTTACA - intron_variant MELA-AU 12 130940905 130940905 single base substitution C T intron_variant MELA-AU 12 130941051 130941051 single base substitution G A synonymous_variant S7S 21C>T MELA-AU 12 130941051 130941051 single base substitution G A synonymous_variant S99S 297C>T MELA-AU 12 130941052 130941052 single base substitution G A missense_variant S7F 20C>T MELA-AU 12 130941052 130941052 single base substitution G A missense_variant S99F 296C>T MELA-AU 12 130941072 130941072 single base substitution G A 5_prime_UTR_variant MELA-AU 12 130941072 130941072 single base substitution G A synonymous_variant F92F 276C>T MELA-AU 12 130941080 130941080 single base substitution G A 5_prime_UTR_variant MELA-AU 12 130941080 130941080 single base substitution G A missense_variant P90S 268C>T MELA-AU 12 130941114 130941114 single base substitution G A 5_prime_UTR_variant MELA-AU 12 130941114 130941114 single base substitution G A synonymous_variant P78P 234C>T MELA-AU 12 130941276 130941276 single base substitution C T intron_variant MELA-AU 12 130941695 130941695 single base substitution G A intron_variant MELA-AU 12 130941719 130941719 single base substitution G A intron_variant MELA-AU 12 130941720 130941720 single base substitution G A intron_variant MELA-AU 12 130941777 130941777 single base substitution C T intron_variant MELA-AU 12 130941902 130941902 single base substitution G A intron_variant MELA-AU 12 130941950 130941950 single base substitution G A intron_variant MELA-AU 12 130942047 130942047 single base substitution C T intron_variant MELA-AU 12 130942139 130942139 single base substitution G A intron_variant MELA-AU 12 130942221 130942221 single base substitution C T intron_variant MELA-AU 12 130942263 130942263 single base substitution C T intron_variant MELA-AU 12 130942516 130942516 single base substitution C T intron_variant MELA-AU 12 130942622 130942622 single base substitution C T intron_variant MELA-AU 12 130942731 130942731 single base substitution C T intron_variant MELA-AU 12 130942860 130942860 single base substitution G A intron_variant MELA-AU 12 130942913 130942913 single base substitution C T intron_variant MELA-AU 12 130943146 130943146 single base substitution G A intron_variant MELA-AU 12 130943185 130943185 single base substitution C T intron_variant MELA-AU 12 130943337 130943337 single base substitution C T intron_variant MELA-AU 12 130943356 130943356 single base substitution G A intron_variant MELA-AU 12 130943387 130943387 single base substitution C T intron_variant MELA-AU 12 130943508 130943508 single base substitution G T intron_variant MELA-AU 12 130943715 130943715 single base substitution G A intron_variant MELA-AU 12 130943883 130943883 single base substitution C T intron_variant MELA-AU 12 130944012 130944012 single base substitution C T intron_variant MELA-AU 12 130944321 130944321 single base substitution G A intron_variant MELA-AU 12 130944339 130944339 single base substitution G A intron_variant MELA-AU 12 130944422 130944422 single base substitution C T intron_variant MELA-AU 12 130944427 130944427 single base substitution G A intron_variant MELA-AU 12 130945124 130945124 single base substitution T A intron_variant MELA-AU 12 130945270 130945270 single base substitution G A intron_variant MELA-AU 12 130945299 130945299 single base substitution C T intron_variant MELA-AU 12 130945418 130945418 single base substitution C T intron_variant MELA-AU 12 130945489 130945489 single base substitution C T intron_variant MELA-AU 12 130945683 130945683 single base substitution G A intron_variant MELA-AU 12 130945688 130945688 single base substitution G A intron_variant MELA-AU 12 130945776 130945776 single base substitution C T intron_variant MELA-AU 12 130945900 130945900 single base substitution G T intron_variant MELA-AU 12 130945959 130945959 single base substitution G A intron_variant MELA-AU 12 130945960 130945960 single base substitution G A intron_variant MELA-AU 12 130945976 130945976 single base substitution C T intron_variant MELA-AU 12 130946104 130946104 single base substitution C T intron_variant MELA-AU 12 130946129 130946129 single base substitution G A intron_variant MELA-AU 12 130946434 130946434 single base substitution C T intron_variant MELA-AU 12 130946504 130946504 single base substitution C T intron_variant MELA-AU 12 130947419 130947419 single base substitution C T intron_variant MELA-AU 12 130947609 130947610 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 130947798 130947798 single base substitution C T intron_variant MELA-AU 12 130948073 130948073 single base substitution C T intron_variant MELA-AU 12 130948079 130948079 single base substitution T G intron_variant MELA-AU 12 130948415 130948416 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 130948619 130948619 single base substitution C T intron_variant MELA-AU 12 130948833 130948833 single base substitution C T intron_variant MELA-AU 12 130948845 130948845 single base substitution C T intron_variant MELA-AU 12 130948880 130948880 single base substitution C T intron_variant MELA-AU 12 130948960 130948960 single base substitution C T intron_variant MELA-AU 12 130949049 130949049 single base substitution C T intron_variant MELA-AU 12 130949098 130949098 single base substitution C T intron_variant MELA-AU 12 130949113 130949113 single base substitution G A intron_variant MELA-AU 12 130949307 130949307 single base substitution G A intron_variant MELA-AU 12 130949449 130949449 single base substitution C T intron_variant MELA-AU 12 130949635 130949635 single base substitution A C intron_variant MELA-AU 12 130949740 130949740 single base substitution C T intron_variant MELA-AU 12 130949742 130949742 single base substitution G A intron_variant MELA-AU 12 130949971 130949971 single base substitution C T downstream_gene_variant MELA-AU 12 130949971 130949971 single base substitution C T intron_variant MELA-AU 12 130950275 130950275 single base substitution C T downstream_gene_variant MELA-AU 12 130950275 130950275 single base substitution C T intron_variant MELA-AU 12 130950588 130950588 single base substitution C T downstream_gene_variant MELA-AU 12 130950588 130950588 single base substitution C T intron_variant MELA-AU 12 130950603 130950603 single base substitution C T downstream_gene_variant MELA-AU 12 130950603 130950603 single base substitution C T intron_variant MELA-AU 12 130950810 130950810 single base substitution G A downstream_gene_variant MELA-AU 12 130950810 130950810 single base substitution G A intron_variant MELA-AU 12 130950887 130950887 single base substitution C T downstream_gene_variant MELA-AU 12 130950887 130950887 single base substitution C T intron_variant MELA-AU 12 130950950 130950950 single base substitution C T downstream_gene_variant MELA-AU 12 130950950 130950950 single base substitution C T intron_variant MELA-AU 12 130950980 130950980 single base substitution C T downstream_gene_variant MELA-AU 12 130950980 130950980 single base substitution C T intron_variant MELA-AU 12 130951051 130951051 single base substitution G A downstream_gene_variant MELA-AU 12 130951051 130951051 single base substitution G A intron_variant MELA-AU 12 130951078 130951078 single base substitution G A downstream_gene_variant MELA-AU 12 130951078 130951078 single base substitution G A intron_variant MELA-AU 12 130951117 130951117 single base substitution G A downstream_gene_variant MELA-AU 12 130951117 130951117 single base substitution G A intron_variant MELA-AU 12 130951118 130951118 single base substitution G A downstream_gene_variant MELA-AU 12 130951118 130951118 single base substitution G A intron_variant MELA-AU 12 130951133 130951133 single base substitution G A downstream_gene_variant MELA-AU 12 130951133 130951133 single base substitution G A intron_variant MELA-AU 12 130951157 130951157 single base substitution C T downstream_gene_variant MELA-AU 12 130951157 130951157 single base substitution C T intron_variant MELA-AU 12 130951208 130951208 single base substitution C T downstream_gene_variant MELA-AU 12 130951208 130951208 single base substitution C T intron_variant MELA-AU 12 130951306 130951306 single base substitution T G downstream_gene_variant MELA-AU 12 130951306 130951306 single base substitution T G intron_variant MELA-AU 12 130951520 130951520 single base substitution A G downstream_gene_variant MELA-AU 12 130951520 130951520 single base substitution A G intron_variant MELA-AU 12 130951576 130951576 single base substitution A T downstream_gene_variant MELA-AU 12 130951576 130951576 single base substitution A T intron_variant MELA-AU 12 130951618 130951618 single base substitution C T downstream_gene_variant MELA-AU 12 130951618 130951618 single base substitution C T intron_variant MELA-AU 12 130951627 130951627 single base substitution C T downstream_gene_variant MELA-AU 12 130951627 130951627 single base substitution C T intron_variant MELA-AU 12 130951655 130951655 single base substitution G A downstream_gene_variant MELA-AU 12 130951655 130951655 single base substitution G A intron_variant MELA-AU 12 130951711 130951711 single base substitution C T downstream_gene_variant MELA-AU 12 130951711 130951711 single base substitution C T intron_variant MELA-AU 12 130951794 130951794 single base substitution T A downstream_gene_variant MELA-AU 12 130951794 130951794 single base substitution T A intron_variant MELA-AU 12 130951887 130951887 single base substitution C T downstream_gene_variant MELA-AU 12 130951887 130951887 single base substitution C T intron_variant MELA-AU 12 130951917 130951917 single base substitution C T downstream_gene_variant MELA-AU 12 130951917 130951917 single base substitution C T intron_variant MELA-AU 12 130952006 130952006 single base substitution C T downstream_gene_variant MELA-AU 12 130952006 130952006 single base substitution C T intron_variant MELA-AU 12 130952014 130952014 single base substitution A G downstream_gene_variant MELA-AU 12 130952014 130952014 single base substitution A G intron_variant MELA-AU 12 130952066 130952066 single base substitution C T downstream_gene_variant MELA-AU 12 130952066 130952066 single base substitution C T intron_variant MELA-AU 12 130952172 130952172 single base substitution A G downstream_gene_variant MELA-AU 12 130952172 130952172 single base substitution A G intron_variant MELA-AU 12 130952176 130952176 single base substitution C T downstream_gene_variant MELA-AU 12 130952176 130952176 single base substitution C T intron_variant MELA-AU 12 130952279 130952279 single base substitution C T downstream_gene_variant MELA-AU 12 130952279 130952279 single base substitution C T intron_variant MELA-AU 12 130952286 130952286 single base substitution G A downstream_gene_variant MELA-AU 12 130952286 130952286 single base substitution G A intron_variant MELA-AU 12 130952301 130952301 single base substitution T C downstream_gene_variant MELA-AU 12 130952301 130952301 single base substitution T C intron_variant MELA-AU 12 130952594 130952594 single base substitution G A downstream_gene_variant MELA-AU 12 130952594 130952594 single base substitution G A intron_variant MELA-AU 12 130952608 130952608 single base substitution C T downstream_gene_variant MELA-AU 12 130952608 130952608 single base substitution C T intron_variant MELA-AU 12 130952703 130952703 single base substitution C T downstream_gene_variant MELA-AU 12 130952703 130952703 single base substitution C T intron_variant MELA-AU 12 130952910 130952910 single base substitution G A downstream_gene_variant MELA-AU 12 130952910 130952910 single base substitution G A intron_variant MELA-AU 12 130952923 130952923 single base substitution G A downstream_gene_variant MELA-AU 12 130952923 130952923 single base substitution G A intron_variant MELA-AU 12 130952986 130952987 multiple base substitution (>=2bp and <=200bp) CC GT downstream_gene_variant MELA-AU 12 130952986 130952987 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 12 130953031 130953031 single base substitution C T downstream_gene_variant MELA-AU 12 130953031 130953031 single base substitution C T intron_variant MELA-AU 12 130953044 130953044 single base substitution G A downstream_gene_variant MELA-AU 12 130953044 130953044 single base substitution G A intron_variant MELA-AU 12 130953112 130953112 single base substitution C T downstream_gene_variant MELA-AU 12 130953112 130953112 single base substitution C T intron_variant MELA-AU 12 130953238 130953238 single base substitution C T downstream_gene_variant MELA-AU 12 130953238 130953238 single base substitution C T intron_variant MELA-AU 12 130953282 130953282 single base substitution G A downstream_gene_variant MELA-AU 12 130953282 130953282 single base substitution G A intron_variant MELA-AU 12 130953306 130953306 single base substitution C T downstream_gene_variant MELA-AU 12 130953306 130953306 single base substitution C T intron_variant MELA-AU 12 130953328 130953328 single base substitution G A downstream_gene_variant MELA-AU 12 130953328 130953328 single base substitution G A intron_variant MELA-AU 12 130953353 130953353 single base substitution C T downstream_gene_variant MELA-AU 12 130953353 130953353 single base substitution C T intron_variant MELA-AU 12 130953368 130953368 single base substitution G A downstream_gene_variant MELA-AU 12 130953368 130953368 single base substitution G A intron_variant MELA-AU 12 130953384 130953384 single base substitution C T downstream_gene_variant MELA-AU 12 130953384 130953384 single base substitution C T intron_variant MELA-AU 12 130953490 130953490 single base substitution G A downstream_gene_variant MELA-AU 12 130953490 130953490 single base substitution G A intron_variant MELA-AU 12 130953545 130953545 single base substitution G A downstream_gene_variant MELA-AU 12 130953545 130953545 single base substitution G A intron_variant MELA-AU 12 130953549 130953549 single base substitution C T downstream_gene_variant MELA-AU 12 130953549 130953549 single base substitution C T intron_variant MELA-AU 12 130953560 130953560 single base substitution C T downstream_gene_variant MELA-AU 12 130953560 130953560 single base substitution C T intron_variant MELA-AU 12 130953625 130953625 single base substitution G A downstream_gene_variant MELA-AU 12 130953625 130953625 single base substitution G A intron_variant MELA-AU 12 130953626 130953626 single base substitution C T downstream_gene_variant MELA-AU 12 130953626 130953626 single base substitution C T intron_variant MELA-AU 12 130953642 130953642 single base substitution G A downstream_gene_variant MELA-AU 12 130953642 130953642 single base substitution G A intron_variant MELA-AU 12 130953802 130953802 single base substitution C T downstream_gene_variant MELA-AU 12 130953802 130953802 single base substitution C T intron_variant MELA-AU 12 130953885 130953885 single base substitution G A downstream_gene_variant MELA-AU 12 130953885 130953885 single base substitution G A intron_variant MELA-AU 12 130953933 130953933 single base substitution C T downstream_gene_variant MELA-AU 12 130953933 130953933 single base substitution C T intron_variant MELA-AU 12 130953949 130953949 single base substitution G A downstream_gene_variant MELA-AU 12 130953949 130953949 single base substitution G A intron_variant MELA-AU 12 130953960 130953960 single base substitution G A downstream_gene_variant MELA-AU 12 130953960 130953960 single base substitution G A intron_variant MELA-AU 12 130954102 130954102 single base substitution C T downstream_gene_variant MELA-AU 12 130954102 130954102 single base substitution C T intron_variant MELA-AU 12 130954105 130954105 single base substitution A G downstream_gene_variant MELA-AU 12 130954105 130954105 single base substitution A G intron_variant MELA-AU 12 130954152 130954152 single base substitution G A downstream_gene_variant MELA-AU 12 130954152 130954152 single base substitution G A intron_variant MELA-AU 12 130954278 130954278 single base substitution C T downstream_gene_variant MELA-AU 12 130954278 130954278 single base substitution C T intron_variant MELA-AU 12 130954380 130954380 single base substitution C T downstream_gene_variant MELA-AU 12 130954380 130954380 single base substitution C T intron_variant MELA-AU 12 130954423 130954423 single base substitution G A downstream_gene_variant MELA-AU 12 130954423 130954423 single base substitution G A intron_variant MELA-AU 12 130954483 130954483 single base substitution G A downstream_gene_variant MELA-AU 12 130954483 130954483 single base substitution G A intron_variant MELA-AU 12 130954552 130954553 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 130954552 130954553 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 130954733 130954733 single base substitution G A downstream_gene_variant MELA-AU 12 130954733 130954733 single base substitution G A intron_variant MELA-AU 12 130954739 130954739 single base substitution G A downstream_gene_variant MELA-AU 12 130954739 130954739 single base substitution G A intron_variant MELA-AU 12 130954833 130954833 single base substitution C T exon_variant MELA-AU 12 130954833 130954833 single base substitution C T intron_variant MELA-AU 12 130954846 130954846 single base substitution G A exon_variant MELA-AU 12 130954846 130954846 single base substitution G A intron_variant MELA-AU 12 130954956 130954956 single base substitution G A exon_variant MELA-AU 12 130954956 130954956 single base substitution G A intron_variant MELA-AU 12 130954991 130954991 single base substitution G A exon_variant MELA-AU 12 130954991 130954991 single base substitution G A intron_variant MELA-AU 12 130955312 130955312 single base substitution A G intron_variant MELA-AU 12 130955315 130955315 single base substitution G A intron_variant MELA-AU 12 130955437 130955437 single base substitution A C intron_variant MELA-AU 12 130955517 130955517 single base substitution T A intron_variant MELA-AU 12 130955663 130955663 single base substitution C T intron_variant MELA-AU 12 130955754 130955754 single base substitution C T intron_variant MELA-AU 12 130955889 130955889 single base substitution C T intron_variant MELA-AU 12 130955964 130955964 single base substitution C T intron_variant MELA-AU 12 130956345 130956345 single base substitution C T 5_prime_UTR_variant MELA-AU 12 130956345 130956345 single base substitution C T intron_variant MELA-AU 12 130956454 130956454 single base substitution G A 5_prime_UTR_variant MELA-AU 12 130956454 130956454 single base substitution G A intron_variant MELA-AU 12 130956468 130956468 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 12 130956468 130956468 single base substitution G A intron_variant MELA-AU 12 130956507 130956507 single base substitution G A 5_prime_UTR_variant MELA-AU 12 130956507 130956507 single base substitution G A intron_variant MELA-AU 12 130956509 130956509 single base substitution G A 5_prime_UTR_variant MELA-AU 12 130956509 130956509 single base substitution G A intron_variant MELA-AU 12 130956520 130956520 single base substitution C T 5_prime_UTR_variant MELA-AU 12 130956520 130956520 single base substitution C T intron_variant MELA-AU 12 130956586 130956586 single base substitution G A 5_prime_UTR_variant MELA-AU 12 130956586 130956586 single base substitution G A intron_variant MELA-AU 12 130956614 130956614 single base substitution C T 5_prime_UTR_variant MELA-AU 12 130956614 130956614 single base substitution C T intron_variant MELA-AU 12 130956625 130956625 single base substitution C T 5_prime_UTR_variant MELA-AU 12 130956625 130956625 single base substitution C T intron_variant MELA-AU 12 130956636 130956636 single base substitution G A 5_prime_UTR_variant MELA-AU 12 130956636 130956636 single base substitution G A intron_variant MELA-AU 12 130956771 130956771 single base substitution C T 5_prime_UTR_variant MELA-AU 12 130956771 130956771 single base substitution C T intron_variant MELA-AU 12 130956910 130956910 single base substitution G A intron_variant MELA-AU 12 130957068 130957068 single base substitution A T intron_variant MELA-AU 12 130957074 130957074 single base substitution G A intron_variant MELA-AU 12 130957166 130957166 single base substitution C T intron_variant MELA-AU 12 130957276 130957276 single base substitution G A intron_variant MELA-AU 12 130957278 130957278 single base substitution G A intron_variant MELA-AU 12 130957291 130957291 single base substitution C T intron_variant MELA-AU 12 130957350 130957350 single base substitution C T intron_variant MELA-AU 12 130957634 130957634 single base substitution C T intron_variant MELA-AU 12 130958232 130958232 single base substitution G A intron_variant MELA-AU 12 130958530 130958530 single base substitution C T intron_variant MELA-AU 12 130958633 130958633 single base substitution G A intron_variant MELA-AU 12 130958660 130958660 single base substitution G A intron_variant MELA-AU 12 130958731 130958731 single base substitution G A intron_variant MELA-AU 12 130958787 130958787 single base substitution C T intron_variant MELA-AU 12 130958820 130958820 single base substitution G A intron_variant MELA-AU 12 130958843 130958843 single base substitution G A intron_variant MELA-AU 12 130958952 130958952 single base substitution A C intron_variant MELA-AU 12 130958984 130958984 single base substitution C T intron_variant MELA-AU 12 130959012 130959012 single base substitution C T intron_variant MELA-AU 12 130959029 130959029 single base substitution G A intron_variant MELA-AU 12 130959200 130959200 single base substitution G A intron_variant MELA-AU 12 130959751 130959751 single base substitution T A intron_variant MELA-AU 12 130959767 130959767 single base substitution C T intron_variant MELA-AU 12 130959777 130959777 single base substitution G A intron_variant MELA-AU 12 130959865 130959865 single base substitution G A intron_variant MELA-AU 12 130959983 130959983 single base substitution C T intron_variant MELA-AU 12 130960143 130960143 single base substitution G A intron_variant MELA-AU 12 130960175 130960175 single base substitution G A intron_variant MELA-AU 12 130960216 130960216 single base substitution T G intron_variant MELA-AU 12 130960434 130960434 single base substitution C T intron_variant MELA-AU 12 130960647 130960647 single base substitution G A intron_variant MELA-AU 12 130960665 130960665 single base substitution G A intron_variant MELA-AU 12 130960869 130960869 single base substitution C T intron_variant MELA-AU 12 130961000 130961000 single base substitution G A intron_variant MELA-AU 12 130961017 130961017 single base substitution G A intron_variant MELA-AU 12 130961034 130961034 single base substitution C T intron_variant MELA-AU 12 130961065 130961066 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 130961251 130961251 single base substitution C T intron_variant MELA-AU 12 130961348 130961348 single base substitution G A intron_variant MELA-AU 12 130961519 130961519 single base substitution G A intron_variant MELA-AU 12 130961640 130961640 single base substitution C T intron_variant MELA-AU 12 130961790 130961790 single base substitution C T intron_variant MELA-AU 12 130962075 130962075 single base substitution G A intron_variant MELA-AU 12 130962274 130962274 single base substitution G A intron_variant MELA-AU 12 130962323 130962323 single base substitution T A intron_variant MELA-AU 12 130962362 130962362 single base substitution G A intron_variant MELA-AU 12 130962418 130962418 single base substitution A C intron_variant MELA-AU 12 130962556 130962556 single base substitution C A intron_variant MELA-AU 12 130962586 130962586 single base substitution G A intron_variant MELA-AU 12 130962654 130962654 single base substitution G A intron_variant MELA-AU 12 130962685 130962685 single base substitution G A intron_variant MELA-AU 12 130962694 130962694 single base substitution G A intron_variant MELA-AU 12 130962778 130962778 single base substitution C T intron_variant MELA-AU 12 130962924 130962924 single base substitution C T intron_variant MELA-AU 12 130963059 130963059 single base substitution C T intron_variant MELA-AU 12 130963129 130963129 single base substitution A G intron_variant MELA-AU 12 130963357 130963357 single base substitution G A intron_variant MELA-AU 12 130963374 130963374 single base substitution C T intron_variant MELA-AU 12 130963850 130963850 single base substitution C T intron_variant MELA-AU 12 130964175 130964175 single base substitution C T intron_variant MELA-AU 12 130964361 130964361 single base substitution C T intron_variant MELA-AU 12 130964460 130964460 single base substitution C T intron_variant MELA-AU 12 130964485 130964485 single base substitution G A intron_variant MELA-AU 12 130964498 130964498 single base substitution G A intron_variant MELA-AU 12 130964679 130964679 single base substitution G A intron_variant MELA-AU 12 130964885 130964885 single base substitution G A intron_variant MELA-AU 12 130964933 130964933 single base substitution G A intron_variant MELA-AU 12 130964951 130964951 single base substitution G A intron_variant MELA-AU 12 130964982 130964982 single base substitution G A intron_variant MELA-AU 12 130965161 130965161 single base substitution T A intron_variant MELA-AU 12 130965366 130965366 single base substitution G A intron_variant MELA-AU 12 130965647 130965647 single base substitution G A intron_variant MELA-AU 12 130965662 130965662 single base substitution G A intron_variant MELA-AU 12 130965678 130965678 single base substitution C T intron_variant MELA-AU 12 130965725 130965725 single base substitution G A intron_variant MELA-AU 12 130965741 130965741 single base substitution G T intron_variant MELA-AU 12 130966320 130966320 single base substitution C T intron_variant MELA-AU 12 130966462 130966462 single base substitution C T intron_variant MELA-AU 12 130966627 130966627 single base substitution C T intron_variant MELA-AU 12 130966650 130966650 single base substitution C T intron_variant MELA-AU 12 130966653 130966653 single base substitution C T intron_variant MELA-AU 12 130966658 130966658 single base substitution C T intron_variant MELA-AU 12 130966695 130966695 single base substitution G A intron_variant MELA-AU 12 130966727 130966727 single base substitution C T intron_variant MELA-AU 12 130966732 130966732 single base substitution G A intron_variant MELA-AU 12 130966816 130966816 single base substitution C T intron_variant MELA-AU 12 130966834 130966834 single base substitution G A intron_variant MELA-AU 12 130966847 130966847 single base substitution C T intron_variant MELA-AU 12 130966854 130966854 single base substitution G A intron_variant MELA-AU 12 130966976 130966976 single base substitution G A intron_variant MELA-AU 12 130967370 130967370 single base substitution G C intron_variant MELA-AU 12 130967403 130967403 single base substitution A T intron_variant MELA-AU 12 130967565 130967565 single base substitution G A intron_variant MELA-AU 12 130967771 130967771 single base substitution C T intron_variant MELA-AU 12 130968093 130968093 single base substitution C T intron_variant MELA-AU 12 130968210 130968210 single base substitution C T intron_variant MELA-AU 12 130968240 130968240 single base substitution G A intron_variant MELA-AU 12 130968508 130968508 single base substitution A G intron_variant MELA-AU 12 130968654 130968654 single base substitution G A intron_variant MELA-AU 12 130968671 130968671 single base substitution G A intron_variant MELA-AU 12 130968677 130968677 single base substitution G A intron_variant MELA-AU 12 130968722 130968722 single base substitution G A intron_variant MELA-AU 12 130968738 130968738 single base substitution G C intron_variant MELA-AU 12 130969006 130969006 single base substitution C T intron_variant MELA-AU 12 130969021 130969021 single base substitution C T intron_variant MELA-AU 12 130969127 130969127 single base substitution C T intron_variant MELA-AU 12 130969260 130969260 single base substitution C T intron_variant MELA-AU 12 130969608 130969608 single base substitution C T intron_variant MELA-AU 12 130969736 130969736 single base substitution G A intron_variant MELA-AU 12 130969945 130969945 single base substitution C T intron_variant MELA-AU 12 130969976 130969977 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 130970012 130970012 single base substitution G A intron_variant MELA-AU 12 130970047 130970047 single base substitution C T intron_variant MELA-AU 12 130970445 130970445 single base substitution C T intron_variant MELA-AU 12 130970497 130970497 single base substitution G A intron_variant MELA-AU 12 130970535 130970535 single base substitution G A intron_variant MELA-AU 12 130970583 130970583 single base substitution C T intron_variant MELA-AU 12 130970709 130970709 single base substitution C T intron_variant MELA-AU 12 130970731 130970731 single base substitution C T intron_variant MELA-AU 12 130970780 130970780 single base substitution C T intron_variant MELA-AU 12 130970811 130970811 single base substitution C T intron_variant MELA-AU 12 130970937 130970937 single base substitution C T intron_variant MELA-AU 12 130970954 130970954 single base substitution C T intron_variant MELA-AU 12 130971300 130971300 single base substitution C T intron_variant MELA-AU 12 130971368 130971368 single base substitution G A intron_variant MELA-AU 12 130971412 130971412 single base substitution C T intron_variant MELA-AU 12 130971468 130971468 single base substitution C T intron_variant MELA-AU 12 130971515 130971515 single base substitution T A intron_variant MELA-AU 12 130971743 130971743 single base substitution C T intron_variant MELA-AU 12 130971816 130971816 single base substitution G A intron_variant MELA-AU 12 130971851 130971851 single base substitution G A intron_variant MELA-AU 12 130971888 130971888 single base substitution A T intron_variant MELA-AU 12 130971961 130971961 single base substitution G A intron_variant MELA-AU 12 130972029 130972029 single base substitution C T intron_variant MELA-AU 12 130972506 130972506 single base substitution C T intron_variant MELA-AU 12 130972638 130972638 single base substitution C T intron_variant MELA-AU 12 130972852 130972852 single base substitution G C intron_variant MELA-AU 12 130972874 130972874 single base substitution A C intron_variant MELA-AU 12 130972917 130972917 single base substitution G A intron_variant MELA-AU 12 130972947 130972947 single base substitution G A intron_variant MELA-AU 12 130973147 130973147 single base substitution C T intron_variant MELA-AU 12 130973272 130973272 single base substitution C T intron_variant MELA-AU 12 130973577 130973577 single base substitution G C intron_variant MELA-AU 12 130973941 130973941 single base substitution C T intron_variant MELA-AU 12 130974077 130974077 single base substitution C T intron_variant MELA-AU 12 130974082 130974082 single base substitution G A intron_variant MELA-AU 12 130974127 130974127 single base substitution C T intron_variant MELA-AU 12 130974149 130974149 single base substitution T A intron_variant MELA-AU 12 130974314 130974314 single base substitution T A intron_variant MELA-AU 12 130974344 130974344 single base substitution G A intron_variant MELA-AU 12 130974475 130974475 single base substitution C T intron_variant MELA-AU 12 130974503 130974503 single base substitution T C intron_variant MELA-AU 12 130974561 130974561 single base substitution C T intron_variant MELA-AU 12 130974604 130974604 single base substitution G A intron_variant MELA-AU 12 130974884 130974884 single base substitution C T intron_variant MELA-AU 12 130975033 130975033 single base substitution C T intron_variant MELA-AU 12 130975079 130975079 single base substitution C T intron_variant MELA-AU 12 130975160 130975160 single base substitution C T intron_variant MELA-AU 12 130975259 130975259 single base substitution C T intron_variant MELA-AU 12 130975269 130975269 single base substitution G A intron_variant MELA-AU 12 130975320 130975320 single base substitution A G intron_variant MELA-AU 12 130975322 130975322 single base substitution G A intron_variant MELA-AU 12 130975339 130975339 single base substitution C T intron_variant MELA-AU 12 130975461 130975461 single base substitution G A intron_variant MELA-AU 12 130975759 130975759 single base substitution G T intron_variant MELA-AU 12 130975796 130975796 single base substitution G A intron_variant MELA-AU 12 130975863 130975863 single base substitution G A intron_variant MELA-AU 12 130976130 130976130 single base substitution C T intron_variant MELA-AU 12 130976197 130976197 single base substitution C T intron_variant MELA-AU 12 130976614 130976614 single base substitution G A intron_variant MELA-AU 12 130976628 130976628 single base substitution C T intron_variant MELA-AU 12 130976959 130976959 single base substitution G A intron_variant MELA-AU 12 130977662 130977662 single base substitution G A intron_variant MELA-AU 12 130977673 130977673 single base substitution C T intron_variant MELA-AU 12 130977681 130977681 deletion of <=200bp A - intron_variant MELA-AU 12 130977794 130977794 single base substitution C T intron_variant MELA-AU 12 130977884 130977884 single base substitution G A intron_variant MELA-AU 12 130977982 130977983 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 130978207 130978207 single base substitution T C intron_variant MELA-AU 12 130978520 130978520 single base substitution G A intron_variant MELA-AU 12 130978762 130978762 single base substitution C T intron_variant MELA-AU 12 130978889 130978889 single base substitution G C intron_variant MELA-AU 12 130978968 130978968 single base substitution G A intron_variant MELA-AU 12 130979068 130979068 single base substitution C T intron_variant MELA-AU 12 130979098 130979098 single base substitution C T intron_variant MELA-AU 12 130979354 130979354 single base substitution C T intron_variant MELA-AU 12 130979402 130979402 single base substitution G A intron_variant MELA-AU 12 130979466 130979466 single base substitution C T intron_variant MELA-AU 12 130979540 130979540 single base substitution G A intron_variant MELA-AU 12 130979741 130979741 single base substitution A G intron_variant MELA-AU 12 130979902 130979902 single base substitution C T intron_variant MELA-AU 12 130979907 130979907 single base substitution G A intron_variant MELA-AU 12 130979924 130979924 single base substitution C T intron_variant MELA-AU 12 130980104 130980104 single base substitution C T intron_variant MELA-AU 12 130980702 130980702 single base substitution G A intron_variant MELA-AU 12 130980708 130980708 single base substitution G A intron_variant MELA-AU 12 130980811 130980811 single base substitution C T intron_variant MELA-AU 12 130981099 130981099 single base substitution G A intron_variant MELA-AU 12 130981116 130981116 single base substitution G A intron_variant MELA-AU 12 130981142 130981142 single base substitution G A intron_variant MELA-AU 12 130981171 130981171 single base substitution C T intron_variant MELA-AU 12 130981242 130981242 single base substitution G A intron_variant MELA-AU 12 130981246 130981246 single base substitution C T intron_variant MELA-AU 12 130981264 130981264 single base substitution C T intron_variant MELA-AU 12 130981354 130981354 single base substitution C T intron_variant MELA-AU 12 130981484 130981484 single base substitution C T intron_variant MELA-AU 12 130981719 130981719 single base substitution G A intron_variant MELA-AU 12 130981785 130981785 single base substitution C T intron_variant MELA-AU 12 130981796 130981796 single base substitution T G intron_variant MELA-AU 12 130981812 130981812 single base substitution G A intron_variant MELA-AU 12 130982133 130982134 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 130982145 130982145 single base substitution G A intron_variant MELA-AU 12 130982312 130982312 single base substitution C T intron_variant MELA-AU 12 130982440 130982440 single base substitution G A intron_variant MELA-AU 12 130982445 130982445 single base substitution C T intron_variant MELA-AU 12 130982486 130982486 single base substitution C T intron_variant MELA-AU 12 130982521 130982521 single base substitution C T intron_variant MELA-AU 12 130982595 130982595 single base substitution G A intron_variant MELA-AU 12 130982611 130982611 single base substitution G T intron_variant MELA-AU 12 130982688 130982688 single base substitution C T intron_variant MELA-AU 12 130982697 130982697 single base substitution C T intron_variant MELA-AU 12 130982983 130982983 single base substitution G T intron_variant MELA-AU 12 130983081 130983081 single base substitution C T intron_variant MELA-AU 12 130983108 130983108 single base substitution G A intron_variant MELA-AU 12 130983269 130983269 single base substitution C T intron_variant MELA-AU 12 130983554 130983554 single base substitution C T intron_variant MELA-AU 12 130983872 130983872 single base substitution A G intron_variant MELA-AU 12 130983927 130983927 single base substitution C T intron_variant MELA-AU 12 130983946 130983946 single base substitution C T intron_variant MELA-AU 12 130983967 130983967 single base substitution C T intron_variant MELA-AU 12 130984003 130984003 single base substitution C T intron_variant MELA-AU 12 130984010 130984010 single base substitution C T intron_variant MELA-AU 12 130984055 130984055 single base substitution G A intron_variant MELA-AU 12 130984058 130984058 single base substitution T G intron_variant MELA-AU 12 130984186 130984187 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 130984247 130984247 single base substitution G A intron_variant MELA-AU 12 130984267 130984267 single base substitution C T intron_variant MELA-AU 12 130984604 130984604 single base substitution A G intron_variant MELA-AU 12 130984611 130984611 single base substitution C T intron_variant MELA-AU 12 130984664 130984664 single base substitution G A intron_variant MELA-AU 12 130984764 130984764 single base substitution G A intron_variant MELA-AU 12 130984781 130984781 single base substitution G A intron_variant MELA-AU 12 130984795 130984795 single base substitution G A intron_variant MELA-AU 12 130984823 130984823 single base substitution G A intron_variant MELA-AU 12 130984989 130984989 single base substitution C T intron_variant MELA-AU 12 130985278 130985278 single base substitution C T intron_variant MELA-AU 12 130985292 130985292 single base substitution C T intron_variant MELA-AU 12 130985506 130985506 single base substitution C T intron_variant MELA-AU 12 130985528 130985528 single base substitution C T intron_variant MELA-AU 12 130985543 130985543 single base substitution C T intron_variant MELA-AU 12 130985543 130985544 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 130985551 130985551 single base substitution C T intron_variant MELA-AU 12 130985646 130985646 single base substitution C T intron_variant MELA-AU 12 130985686 130985686 single base substitution C T intron_variant MELA-AU 12 130985993 130985993 single base substitution T G intron_variant MELA-AU 12 130986088 130986088 single base substitution A G intron_variant MELA-AU 12 130986421 130986421 single base substitution A G intron_variant MELA-AU 12 130986538 130986538 single base substitution C T intron_variant MELA-AU 12 130986544 130986544 single base substitution G A intron_variant MELA-AU 12 130986598 130986598 single base substitution A T intron_variant MELA-AU 12 130986915 130986915 single base substitution C T intron_variant MELA-AU 12 130986959 130986959 single base substitution C T intron_variant MELA-AU 12 130987178 130987178 single base substitution T A intron_variant MELA-AU 12 130987254 130987254 single base substitution T G intron_variant MELA-AU 12 130987467 130987467 single base substitution G A intron_variant MELA-AU 12 130987481 130987481 single base substitution G A intron_variant MELA-AU 12 130987546 130987546 single base substitution C T intron_variant MELA-AU 12 130987625 130987625 single base substitution C T intron_variant MELA-AU 12 130987838 130987838 single base substitution G A intron_variant MELA-AU 12 130987994 130987994 single base substitution C T intron_variant MELA-AU 12 130988263 130988263 single base substitution C T intron_variant MELA-AU 12 130988264 130988264 single base substitution G A intron_variant MELA-AU 12 130988319 130988319 single base substitution G A intron_variant MELA-AU 12 130988499 130988499 single base substitution G A intron_variant MELA-AU 12 130988761 130988761 single base substitution C T intron_variant MELA-AU 12 130988820 130988820 single base substitution G A intron_variant MELA-AU 12 130988873 130988873 single base substitution C T intron_variant MELA-AU 12 130988881 130988881 single base substitution C T intron_variant MELA-AU 12 130989195 130989196 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 130989227 130989227 single base substitution C T intron_variant MELA-AU 12 130989485 130989485 single base substitution C T intron_variant MELA-AU 12 130989528 130989528 single base substitution C T intron_variant MELA-AU 12 130989567 130989567 single base substitution G A intron_variant MELA-AU 12 130989857 130989857 single base substitution C T intron_variant MELA-AU 12 130990844 130990844 single base substitution C T intron_variant MELA-AU 12 130991046 130991046 single base substitution G A intron_variant MELA-AU 12 130991047 130991047 single base substitution G A intron_variant MELA-AU 12 130991087 130991087 single base substitution C T intron_variant MELA-AU 12 130991330 130991330 single base substitution G A intron_variant MELA-AU 12 130991330 130991330 single base substitution G A upstream_gene_variant MELA-AU 12 130991342 130991342 single base substitution G A intron_variant MELA-AU 12 130991342 130991342 single base substitution G A upstream_gene_variant MELA-AU 12 130991392 130991392 single base substitution G A intron_variant MELA-AU 12 130991392 130991392 single base substitution G A upstream_gene_variant MELA-AU 12 130991414 130991414 single base substitution C T intron_variant MELA-AU 12 130991414 130991414 single base substitution C T upstream_gene_variant MELA-AU 12 130991419 130991419 single base substitution G A intron_variant MELA-AU 12 130991419 130991419 single base substitution G A upstream_gene_variant MELA-AU 12 130991423 130991423 single base substitution C T intron_variant MELA-AU 12 130991423 130991423 single base substitution C T upstream_gene_variant MELA-AU 12 130991609 130991609 single base substitution C T intron_variant MELA-AU 12 130991609 130991609 single base substitution C T upstream_gene_variant MELA-AU 12 130991686 130991686 single base substitution G A intron_variant MELA-AU 12 130991686 130991686 single base substitution G A upstream_gene_variant MELA-AU 12 130992318 130992318 single base substitution C T intron_variant MELA-AU 12 130992318 130992318 single base substitution C T upstream_gene_variant MELA-AU 12 130992342 130992342 single base substitution G A intron_variant MELA-AU 12 130992342 130992342 single base substitution G A upstream_gene_variant MELA-AU 12 130992470 130992470 single base substitution G A intron_variant MELA-AU 12 130992470 130992470 single base substitution G A upstream_gene_variant MELA-AU 12 130992555 130992555 single base substitution C T intron_variant MELA-AU 12 130992555 130992555 single base substitution C T upstream_gene_variant MELA-AU 12 130992606 130992606 single base substitution G A intron_variant MELA-AU 12 130992606 130992606 single base substitution G A upstream_gene_variant MELA-AU 12 130992651 130992651 single base substitution C T intron_variant MELA-AU 12 130992651 130992651 single base substitution C T upstream_gene_variant MELA-AU 12 130993025 130993025 single base substitution C T intron_variant MELA-AU 12 130993025 130993025 single base substitution C T upstream_gene_variant MELA-AU 12 130993130 130993130 single base substitution G A intron_variant MELA-AU 12 130993130 130993130 single base substitution G A upstream_gene_variant MELA-AU 12 130993167 130993167 single base substitution C T intron_variant MELA-AU 12 130993167 130993167 single base substitution C T upstream_gene_variant MELA-AU 12 130993521 130993521 single base substitution C T intron_variant MELA-AU 12 130993521 130993521 single base substitution C T upstream_gene_variant MELA-AU 12 130993693 130993693 single base substitution G A intron_variant MELA-AU 12 130993693 130993693 single base substitution G A upstream_gene_variant MELA-AU 12 130993724 130993724 single base substitution G A intron_variant MELA-AU 12 130993724 130993724 single base substitution G A upstream_gene_variant MELA-AU 12 130993799 130993799 single base substitution G A intron_variant MELA-AU 12 130993799 130993799 single base substitution G A upstream_gene_variant MELA-AU 12 130994025 130994025 single base substitution C T intron_variant MELA-AU 12 130994025 130994025 single base substitution C T upstream_gene_variant MELA-AU 12 130994158 130994158 single base substitution G A intron_variant MELA-AU 12 130994158 130994158 single base substitution G A upstream_gene_variant MELA-AU 12 130994240 130994240 single base substitution C T intron_variant MELA-AU 12 130994240 130994240 single base substitution C T upstream_gene_variant MELA-AU 12 130994256 130994256 single base substitution C T intron_variant MELA-AU 12 130994256 130994256 single base substitution C T upstream_gene_variant MELA-AU 12 130994291 130994291 single base substitution G A intron_variant MELA-AU 12 130994291 130994291 single base substitution G A upstream_gene_variant MELA-AU 12 130994393 130994393 single base substitution C T intron_variant MELA-AU 12 130994393 130994393 single base substitution C T upstream_gene_variant MELA-AU 12 130994473 130994473 single base substitution G A intron_variant MELA-AU 12 130994473 130994473 single base substitution G A upstream_gene_variant MELA-AU 12 130994632 130994632 single base substitution G A intron_variant MELA-AU 12 130994632 130994632 single base substitution G A upstream_gene_variant MELA-AU 12 130994891 130994891 single base substitution G A intron_variant MELA-AU 12 130994891 130994891 single base substitution G A upstream_gene_variant MELA-AU 12 130994909 130994909 single base substitution G A intron_variant MELA-AU 12 130994909 130994909 single base substitution G A upstream_gene_variant MELA-AU 12 130995034 130995034 single base substitution G T intron_variant MELA-AU 12 130995034 130995034 single base substitution G T upstream_gene_variant MELA-AU 12 130995213 130995213 single base substitution C T intron_variant MELA-AU 12 130995213 130995213 single base substitution C T upstream_gene_variant MELA-AU 12 130995234 130995234 single base substitution G A intron_variant MELA-AU 12 130995234 130995234 single base substitution G A upstream_gene_variant MELA-AU 12 130995383 130995383 single base substitution C T intron_variant MELA-AU 12 130995383 130995383 single base substitution C T upstream_gene_variant MELA-AU 12 130995474 130995474 single base substitution G A intron_variant MELA-AU 12 130995474 130995474 single base substitution G A upstream_gene_variant MELA-AU 12 130995499 130995499 single base substitution C T intron_variant MELA-AU 12 130995499 130995499 single base substitution C T upstream_gene_variant MELA-AU 12 130995514 130995514 single base substitution G A intron_variant MELA-AU 12 130995514 130995514 single base substitution G A upstream_gene_variant MELA-AU 12 130995786 130995786 single base substitution G A intron_variant MELA-AU 12 130995786 130995786 single base substitution G A upstream_gene_variant MELA-AU 12 130995916 130995916 single base substitution A G intron_variant MELA-AU 12 130995916 130995916 single base substitution A G upstream_gene_variant MELA-AU 12 130995968 130995968 single base substitution G A intron_variant MELA-AU 12 130995968 130995968 single base substitution G A upstream_gene_variant MELA-AU 12 130996052 130996052 single base substitution C T intron_variant MELA-AU 12 130996052 130996052 single base substitution C T upstream_gene_variant MELA-AU 12 130996127 130996127 single base substitution C T intron_variant MELA-AU 12 130996127 130996127 single base substitution C T upstream_gene_variant MELA-AU 12 130996278 130996278 single base substitution G A intron_variant MELA-AU 12 130996278 130996278 single base substitution G A upstream_gene_variant MELA-AU 12 130996290 130996290 single base substitution C T intron_variant MELA-AU 12 130996290 130996290 single base substitution C T upstream_gene_variant MELA-AU 12 130996315 130996315 single base substitution C T intron_variant MELA-AU 12 130996315 130996315 single base substitution C T upstream_gene_variant MELA-AU 12 130996376 130996376 single base substitution G A intron_variant MELA-AU 12 130996410 130996410 single base substitution G A intron_variant MELA-AU 12 130996475 130996476 multiple base substitution (>=2bp and <=200bp) TC CT intron_variant MELA-AU 12 130996572 130996572 single base substitution G A intron_variant MELA-AU 12 130996750 130996750 single base substitution C T intron_variant MELA-AU 12 130996820 130996820 single base substitution G A intron_variant MELA-AU 12 130996971 130996971 single base substitution G A intron_variant MELA-AU 12 130997093 130997093 single base substitution C T intron_variant MELA-AU 12 130997094 130997094 single base substitution C T intron_variant MELA-AU 12 130997117 130997117 single base substitution C T intron_variant MELA-AU 12 130997138 130997138 single base substitution G A intron_variant MELA-AU 12 130997210 130997210 single base substitution G A intron_variant MELA-AU 12 130997364 130997364 single base substitution G A intron_variant MELA-AU 12 130997370 130997370 single base substitution A T intron_variant MELA-AU 12 130997456 130997456 single base substitution C T intron_variant MELA-AU 12 130997554 130997554 single base substitution G A intron_variant MELA-AU 12 130997625 130997625 single base substitution C T intron_variant MELA-AU 12 130997789 130997789 single base substitution A T intron_variant MELA-AU 12 130997861 130997861 single base substitution C T intron_variant MELA-AU 12 130997969 130997969 single base substitution G A intron_variant MELA-AU 12 130998009 130998009 single base substitution G A intron_variant MELA-AU 12 130998014 130998014 single base substitution C T intron_variant MELA-AU 12 130998058 130998058 single base substitution G A intron_variant MELA-AU 12 130998156 130998156 single base substitution G A intron_variant MELA-AU 12 130998237 130998237 single base substitution C T intron_variant MELA-AU 12 130998363 130998363 single base substitution C T intron_variant MELA-AU 12 130998951 130998951 single base substitution G A intron_variant MELA-AU 12 130999048 130999048 single base substitution C T intron_variant MELA-AU 12 130999346 130999346 single base substitution C T intron_variant MELA-AU 12 130999388 130999388 single base substitution G A intron_variant MELA-AU 12 130999416 130999416 single base substitution G A intron_variant MELA-AU 12 130999460 130999460 single base substitution C T intron_variant MELA-AU 12 130999662 130999662 single base substitution C T intron_variant MELA-AU 12 130999730 130999730 single base substitution C T intron_variant MELA-AU 12 130999899 130999899 single base substitution C T intron_variant MELA-AU 12 131000016 131000016 single base substitution T A intron_variant MELA-AU 12 131000037 131000037 single base substitution T C intron_variant MELA-AU 12 131000180 131000180 single base substitution A G intron_variant MELA-AU 12 131000184 131000184 single base substitution C T intron_variant MELA-AU 12 131000188 131000188 single base substitution C A intron_variant MELA-AU 12 131000525 131000525 single base substitution G A intron_variant MELA-AU 12 131000550 131000550 single base substitution C T intron_variant MELA-AU 12 131000564 131000564 single base substitution G A intron_variant MELA-AU 12 131000597 131000597 single base substitution T G intron_variant MELA-AU 12 131000613 131000613 single base substitution A C intron_variant MELA-AU 12 131000657 131000657 single base substitution C T intron_variant MELA-AU 12 131000679 131000679 single base substitution C T intron_variant MELA-AU 12 131000686 131000686 single base substitution C T intron_variant MELA-AU 12 131000687 131000687 single base substitution C T intron_variant MELA-AU 12 131000802 131000802 single base substitution C T intron_variant MELA-AU 12 131000820 131000820 single base substitution C T intron_variant MELA-AU 12 131000909 131000909 single base substitution C T intron_variant MELA-AU 12 131001053 131001053 single base substitution G A intron_variant MELA-AU 12 131001076 131001076 single base substitution G A intron_variant MELA-AU 12 131001254 131001254 single base substitution G A intron_variant MELA-AU 12 131001338 131001338 single base substitution G A intron_variant MELA-AU 12 131001406 131001406 single base substitution G A intron_variant MELA-AU 12 131001441 131001441 single base substitution G A intron_variant MELA-AU 12 131001451 131001451 single base substitution G A intron_variant MELA-AU 12 131001525 131001525 single base substitution G A intron_variant MELA-AU 12 131001648 131001648 single base substitution C T intron_variant MELA-AU 12 131001785 131001785 single base substitution G A intron_variant MELA-AU 12 131001924 131001924 single base substitution C T intron_variant MELA-AU 12 131001972 131001972 single base substitution G A intron_variant MELA-AU 12 131002185 131002185 single base substitution G A intron_variant MELA-AU 12 131002188 131002188 single base substitution G A intron_variant MELA-AU 12 131002289 131002289 single base substitution C T intron_variant MELA-AU 12 131002399 131002399 single base substitution G A 5_prime_UTR_variant MELA-AU 12 131002415 131002415 single base substitution G A 5_prime_UTR_variant MELA-AU 12 131002415 131002415 single base substitution G A upstream_gene_variant MELA-AU 12 131002462 131002462 single base substitution C T 5_prime_UTR_variant MELA-AU 12 131002462 131002462 single base substitution C T splice_region_variant MELA-AU 12 131002462 131002462 single base substitution C T upstream_gene_variant MELA-AU 12 131002475 131002475 single base substitution G A intron_variant MELA-AU 12 131002475 131002475 single base substitution G A upstream_gene_variant MELA-AU 12 131002790 131002790 single base substitution C T intron_variant MELA-AU 12 131002790 131002790 single base substitution C T upstream_gene_variant MELA-AU 12 131003426 131003426 single base substitution G A intron_variant MELA-AU 12 131003426 131003426 single base substitution G A upstream_gene_variant MELA-AU 12 131003505 131003505 single base substitution G A intron_variant MELA-AU 12 131003505 131003505 single base substitution G A upstream_gene_variant MELA-AU 12 131003519 131003519 single base substitution C T intron_variant MELA-AU 12 131003519 131003519 single base substitution C T upstream_gene_variant MELA-AU 12 131003592 131003592 single base substitution G A intron_variant MELA-AU 12 131003592 131003592 single base substitution G A upstream_gene_variant MELA-AU 12 131003651 131003651 single base substitution C T intron_variant MELA-AU 12 131003651 131003651 single base substitution C T upstream_gene_variant MELA-AU 12 131003743 131003743 single base substitution C T intron_variant MELA-AU 12 131003743 131003743 single base substitution C T upstream_gene_variant MELA-AU 12 131003966 131003966 single base substitution G A intron_variant MELA-AU 12 131003966 131003966 single base substitution G A upstream_gene_variant MELA-AU 12 131004058 131004058 single base substitution T G intron_variant MELA-AU 12 131004058 131004058 single base substitution T G upstream_gene_variant MELA-AU 12 131004084 131004084 single base substitution C T intron_variant MELA-AU 12 131004084 131004084 single base substitution C T upstream_gene_variant MELA-AU 12 131004097 131004097 single base substitution C T intron_variant MELA-AU 12 131004097 131004097 single base substitution C T upstream_gene_variant MELA-AU 12 131004217 131004217 single base substitution G A intron_variant MELA-AU 12 131004217 131004217 single base substitution G A upstream_gene_variant MELA-AU 12 131004343 131004343 single base substitution C T intron_variant MELA-AU 12 131004343 131004343 single base substitution C T upstream_gene_variant MELA-AU 12 131004405 131004405 single base substitution A G intron_variant MELA-AU 12 131004405 131004405 single base substitution A G upstream_gene_variant MELA-AU 12 131004452 131004452 single base substitution C T intron_variant MELA-AU 12 131004452 131004452 single base substitution C T upstream_gene_variant MELA-AU 12 131004454 131004454 single base substitution C T intron_variant MELA-AU 12 131004454 131004454 single base substitution C T upstream_gene_variant MELA-AU 12 131004512 131004512 single base substitution C T intron_variant MELA-AU 12 131004512 131004512 single base substitution C T upstream_gene_variant MELA-AU 12 131004681 131004681 single base substitution G A intron_variant MELA-AU 12 131004681 131004681 single base substitution G A upstream_gene_variant MELA-AU 12 131004772 131004772 single base substitution C T intron_variant MELA-AU 12 131004772 131004772 single base substitution C T upstream_gene_variant MELA-AU 12 131004802 131004802 single base substitution C T intron_variant MELA-AU 12 131004802 131004802 single base substitution C T upstream_gene_variant MELA-AU 12 131005291 131005291 single base substitution C T intron_variant MELA-AU 12 131005291 131005291 single base substitution C T upstream_gene_variant MELA-AU 12 131005444 131005445 multiple base substitution (>=2bp and <=200bp) CA AG intron_variant MELA-AU 12 131005444 131005445 multiple base substitution (>=2bp and <=200bp) CA AG upstream_gene_variant MELA-AU 12 131005617 131005617 single base substitution G A intron_variant MELA-AU 12 131005617 131005617 single base substitution G A upstream_gene_variant MELA-AU 12 131005620 131005620 single base substitution G A intron_variant MELA-AU 12 131005620 131005620 single base substitution G A upstream_gene_variant MELA-AU 12 131005621 131005621 single base substitution G T intron_variant MELA-AU 12 131005621 131005621 single base substitution G T upstream_gene_variant MELA-AU 12 131005626 131005626 single base substitution C T intron_variant MELA-AU 12 131005626 131005626 single base substitution C T upstream_gene_variant MELA-AU 12 131005798 131005798 single base substitution G A intron_variant MELA-AU 12 131005798 131005798 single base substitution G A upstream_gene_variant MELA-AU 12 131005859 131005859 single base substitution C T intron_variant MELA-AU 12 131005859 131005859 single base substitution C T upstream_gene_variant MELA-AU 12 131005888 131005888 single base substitution C T intron_variant MELA-AU 12 131005888 131005888 single base substitution C T upstream_gene_variant MELA-AU 12 131005906 131005906 single base substitution G A intron_variant MELA-AU 12 131005906 131005906 single base substitution G A upstream_gene_variant MELA-AU 12 131005961 131005961 single base substitution G A intron_variant MELA-AU 12 131005961 131005961 single base substitution G A upstream_gene_variant MELA-AU 12 131006121 131006121 single base substitution C T intron_variant MELA-AU 12 131006121 131006121 single base substitution C T upstream_gene_variant MELA-AU 12 131006319 131006319 single base substitution A G intron_variant MELA-AU 12 131006319 131006319 single base substitution A G upstream_gene_variant MELA-AU 12 131006382 131006382 single base substitution C A intron_variant MELA-AU 12 131006382 131006382 single base substitution C A upstream_gene_variant MELA-AU 12 131006498 131006498 single base substitution G A intron_variant MELA-AU 12 131006498 131006498 single base substitution G A upstream_gene_variant MELA-AU 12 131006608 131006609 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 131006608 131006609 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 131006729 131006729 single base substitution G A intron_variant MELA-AU 12 131006729 131006729 single base substitution G A upstream_gene_variant MELA-AU 12 131006818 131006818 single base substitution G C intron_variant MELA-AU 12 131006818 131006818 single base substitution G C upstream_gene_variant MELA-AU 12 131006906 131006906 single base substitution G A intron_variant MELA-AU 12 131006906 131006906 single base substitution G A upstream_gene_variant MELA-AU 12 131006907 131006907 single base substitution G A intron_variant MELA-AU 12 131006907 131006907 single base substitution G A upstream_gene_variant MELA-AU 12 131007028 131007028 single base substitution G A intron_variant MELA-AU 12 131007028 131007028 single base substitution G A upstream_gene_variant MELA-AU 12 131007046 131007046 single base substitution C T intron_variant MELA-AU 12 131007046 131007046 single base substitution C T upstream_gene_variant MELA-AU 12 131007145 131007145 single base substitution C T intron_variant MELA-AU 12 131007145 131007145 single base substitution C T upstream_gene_variant MELA-AU 12 131007202 131007202 single base substitution G A intron_variant MELA-AU 12 131007202 131007202 single base substitution G A upstream_gene_variant MELA-AU 12 131007259 131007259 single base substitution G A intron_variant MELA-AU 12 131007259 131007259 single base substitution G A upstream_gene_variant MELA-AU 12 131007266 131007266 single base substitution G A intron_variant MELA-AU 12 131007266 131007266 single base substitution G A upstream_gene_variant MELA-AU 12 131007281 131007281 single base substitution G A intron_variant MELA-AU 12 131007281 131007281 single base substitution G A upstream_gene_variant MELA-AU 12 131007326 131007326 single base substitution G A intron_variant MELA-AU 12 131007326 131007326 single base substitution G A upstream_gene_variant MELA-AU 12 131007341 131007341 single base substitution C T intron_variant MELA-AU 12 131007341 131007341 single base substitution C T upstream_gene_variant MELA-AU 12 131007664 131007664 single base substitution C T intron_variant MELA-AU 12 131007724 131007724 single base substitution C T intron_variant MELA-AU 12 131007753 131007753 single base substitution G A intron_variant MELA-AU 12 131007859 131007859 single base substitution G A intron_variant MELA-AU 12 131008056 131008056 single base substitution G A intron_variant MELA-AU 12 131008089 131008089 single base substitution C T intron_variant MELA-AU 12 131008121 131008121 single base substitution C T intron_variant MELA-AU 12 131008170 131008170 single base substitution G A intron_variant MELA-AU 12 131008219 131008219 single base substitution A T intron_variant MELA-AU 12 131008234 131008234 single base substitution C T intron_variant MELA-AU 12 131008293 131008293 single base substitution G A intron_variant MELA-AU 12 131008306 131008306 single base substitution C T intron_variant MELA-AU 12 131008320 131008320 single base substitution G A intron_variant MELA-AU 12 131008339 131008339 single base substitution G A intron_variant MELA-AU 12 131008392 131008392 single base substitution G A intron_variant MELA-AU 12 131008395 131008395 single base substitution A G intron_variant MELA-AU 12 131008714 131008714 single base substitution G A intron_variant MELA-AU 12 131008745 131008745 single base substitution C T intron_variant MELA-AU 12 131008746 131008746 single base substitution T A intron_variant MELA-AU 12 131008808 131008808 single base substitution G A intron_variant MELA-AU 12 131008896 131008896 single base substitution G A intron_variant MELA-AU 12 131008999 131008999 single base substitution G A intron_variant MELA-AU 12 131009074 131009074 single base substitution G A intron_variant MELA-AU 12 131009084 131009084 single base substitution G A intron_variant MELA-AU 12 131009114 131009114 single base substitution C T intron_variant MELA-AU 12 131009145 131009145 single base substitution G A intron_variant MELA-AU 12 131009176 131009176 single base substitution G A intron_variant MELA-AU 12 131009187 131009187 single base substitution A T intron_variant MELA-AU 12 131009253 131009253 single base substitution G A intron_variant MELA-AU 12 131009335 131009335 single base substitution G A intron_variant MELA-AU 12 131009475 131009475 single base substitution C T intron_variant MELA-AU 12 131009535 131009535 single base substitution G A intron_variant MELA-AU 12 131009619 131009619 single base substitution A T intron_variant MELA-AU 12 131009624 131009624 single base substitution G A intron_variant MELA-AU 12 131009729 131009729 single base substitution G T intron_variant MELA-AU 12 131009768 131009768 single base substitution G A intron_variant MELA-AU 12 131009795 131009795 single base substitution G A intron_variant MELA-AU 12 131009861 131009861 single base substitution G A intron_variant MELA-AU 12 131009874 131009874 single base substitution G A intron_variant MELA-AU 12 131009929 131009929 single base substitution G A intron_variant MELA-AU 12 131010061 131010061 single base substitution C T intron_variant MELA-AU 12 131010120 131010120 single base substitution G A intron_variant MELA-AU 12 131010140 131010140 single base substitution G A intron_variant MELA-AU 12 131010191 131010191 single base substitution G A intron_variant MELA-AU 12 131010234 131010234 single base substitution G A intron_variant MELA-AU 12 131010237 131010237 single base substitution C T intron_variant MELA-AU 12 131010265 131010265 single base substitution C T intron_variant MELA-AU 12 131010537 131010537 single base substitution C T intron_variant MELA-AU 12 131010674 131010674 single base substitution C T intron_variant MELA-AU 12 131010687 131010687 single base substitution G A intron_variant MELA-AU 12 131010781 131010781 single base substitution C T intron_variant MELA-AU 12 131010916 131010916 single base substitution G A intron_variant MELA-AU 12 131010947 131010947 single base substitution G A intron_variant MELA-AU 12 131011014 131011014 single base substitution G A intron_variant MELA-AU 12 131011067 131011067 single base substitution C T intron_variant MELA-AU 12 131011149 131011149 single base substitution C T intron_variant MELA-AU 12 131011392 131011392 single base substitution C T intron_variant MELA-AU 12 131011715 131011715 single base substitution G A intron_variant MELA-AU 12 131011764 131011764 single base substitution T A intron_variant MELA-AU 12 131011856 131011856 single base substitution C T intron_variant MELA-AU 12 131011943 131011943 single base substitution A G intron_variant MELA-AU 12 131012018 131012018 single base substitution G A intron_variant MELA-AU 12 131012080 131012080 single base substitution G A intron_variant MELA-AU 12 131012175 131012175 single base substitution G A intron_variant MELA-AU 12 131012183 131012183 single base substitution C T intron_variant MELA-AU 12 131012217 131012217 single base substitution G A intron_variant MELA-AU 12 131012235 131012235 single base substitution C T intron_variant MELA-AU 12 131012653 131012653 single base substitution G A intron_variant MELA-AU 12 131012751 131012751 single base substitution C T intron_variant MELA-AU 12 131012755 131012755 single base substitution G A intron_variant MELA-AU 12 131012832 131012832 single base substitution C T intron_variant MELA-AU 12 131012869 131012869 single base substitution C T intron_variant MELA-AU 12 131012896 131012896 single base substitution A T intron_variant MELA-AU 12 131012943 131012943 single base substitution G A intron_variant MELA-AU 12 131012985 131012985 single base substitution G A intron_variant MELA-AU 12 131013011 131013011 single base substitution G A intron_variant MELA-AU 12 131013026 131013026 single base substitution G A intron_variant MELA-AU 12 131013027 131013027 single base substitution G A intron_variant MELA-AU 12 131013228 131013228 single base substitution G A intron_variant MELA-AU 12 131013342 131013342 single base substitution G A intron_variant MELA-AU 12 131013606 131013606 single base substitution G A intron_variant MELA-AU 12 131013610 131013610 single base substitution G A intron_variant MELA-AU 12 131013698 131013698 single base substitution G A intron_variant MELA-AU 12 131013741 131013741 single base substitution G A intron_variant MELA-AU 12 131013771 131013771 single base substitution C T intron_variant MELA-AU 12 131013872 131013872 single base substitution G A intron_variant MELA-AU 12 131014015 131014015 single base substitution G A intron_variant MELA-AU 12 131014182 131014182 single base substitution C T intron_variant MELA-AU 12 131014377 131014377 single base substitution A G intron_variant MELA-AU 12 131014459 131014459 single base substitution G A intron_variant MELA-AU 12 131014568 131014568 single base substitution G A intron_variant MELA-AU 12 131014604 131014604 single base substitution C T intron_variant MELA-AU 12 131014630 131014630 single base substitution C T intron_variant MELA-AU 12 131014754 131014754 single base substitution G A intron_variant MELA-AU 12 131014762 131014762 single base substitution C T intron_variant MELA-AU 12 131014770 131014770 single base substitution G A intron_variant MELA-AU 12 131015073 131015073 single base substitution G A intron_variant MELA-AU 12 131015315 131015315 single base substitution C T intron_variant MELA-AU 12 131015323 131015323 single base substitution G A intron_variant MELA-AU 12 131015349 131015349 single base substitution C T intron_variant MELA-AU 12 131015525 131015525 single base substitution C T intron_variant MELA-AU 12 131015530 131015530 single base substitution C T intron_variant MELA-AU 12 131015618 131015618 single base substitution T A intron_variant MELA-AU 12 131015693 131015693 single base substitution C T intron_variant MELA-AU 12 131015863 131015863 single base substitution C T intron_variant MELA-AU 12 131015868 131015868 single base substitution C T intron_variant MELA-AU 12 131016267 131016267 single base substitution G A intron_variant MELA-AU 12 131016275 131016275 single base substitution C T intron_variant MELA-AU 12 131016473 131016473 single base substitution C T intron_variant MELA-AU 12 131016515 131016515 single base substitution T C intron_variant MELA-AU 12 131016605 131016605 single base substitution G A intron_variant MELA-AU 12 131016693 131016693 single base substitution A G intron_variant MELA-AU 12 131016795 131016795 single base substitution G A intron_variant MELA-AU 12 131016825 131016825 single base substitution G C intron_variant MELA-AU 12 131016989 131016989 single base substitution G A intron_variant MELA-AU 12 131017113 131017113 single base substitution G A intron_variant MELA-AU 12 131017379 131017379 single base substitution G A intron_variant MELA-AU 12 131017840 131017840 single base substitution G A intron_variant MELA-AU 12 131017846 131017846 single base substitution G A intron_variant MELA-AU 12 131017870 131017870 single base substitution C T intron_variant MELA-AU 12 131017891 131017891 single base substitution C T intron_variant MELA-AU 12 131018144 131018144 single base substitution A T intron_variant MELA-AU 12 131018211 131018211 single base substitution C T intron_variant MELA-AU 12 131018458 131018458 single base substitution C T intron_variant MELA-AU 12 131018619 131018619 single base substitution G A intron_variant MELA-AU 12 131018935 131018935 single base substitution G A intron_variant MELA-AU 12 131018990 131018990 single base substitution C T intron_variant MELA-AU 12 131019107 131019107 single base substitution G A intron_variant MELA-AU 12 131019253 131019253 single base substitution G A intron_variant MELA-AU 12 131019303 131019303 single base substitution T A intron_variant MELA-AU 12 131019421 131019421 single base substitution G A intron_variant MELA-AU 12 131019536 131019536 single base substitution C T intron_variant MELA-AU 12 131019639 131019639 single base substitution C T intron_variant MELA-AU 12 131019661 131019661 single base substitution G A intron_variant MELA-AU 12 131019744 131019744 single base substitution G A intron_variant MELA-AU 12 131019754 131019754 single base substitution C T intron_variant MELA-AU 12 131019791 131019791 single base substitution C T intron_variant MELA-AU 12 131019897 131019897 single base substitution A G intron_variant MELA-AU 12 131019973 131019973 single base substitution C T intron_variant MELA-AU 12 131020139 131020139 single base substitution C T intron_variant MELA-AU 12 131020511 131020511 single base substitution T A intron_variant MELA-AU 12 131020554 131020554 single base substitution G A intron_variant MELA-AU 12 131020653 131020653 single base substitution C T intron_variant MELA-AU 12 131020736 131020736 single base substitution G A intron_variant MELA-AU 12 131020820 131020820 single base substitution C T intron_variant MELA-AU 12 131020884 131020884 single base substitution A T intron_variant MELA-AU 12 131020927 131020927 single base substitution A T intron_variant MELA-AU 12 131020974 131020974 single base substitution C T intron_variant MELA-AU 12 131021019 131021019 single base substitution C T intron_variant MELA-AU 12 131021298 131021298 single base substitution G A intron_variant MELA-AU 12 131021440 131021440 single base substitution G A intron_variant MELA-AU 12 131021456 131021456 single base substitution G A intron_variant MELA-AU 12 131021466 131021466 single base substitution C T intron_variant MELA-AU 12 131021522 131021522 single base substitution G A intron_variant MELA-AU 12 131021892 131021892 single base substitution G A intron_variant MELA-AU 12 131022003 131022003 single base substitution C T intron_variant MELA-AU 12 131022046 131022046 single base substitution G A intron_variant MELA-AU 12 131022079 131022079 single base substitution C T intron_variant MELA-AU 12 131022123 131022123 single base substitution G A intron_variant MELA-AU 12 131022237 131022237 single base substitution G A intron_variant MELA-AU 12 131022257 131022257 single base substitution G A intron_variant MELA-AU 12 131022331 131022331 single base substitution G A intron_variant MELA-AU 12 131022606 131022606 single base substitution G A intron_variant MELA-AU 12 131022647 131022647 single base substitution G A intron_variant MELA-AU 12 131022656 131022656 single base substitution G A intron_variant MELA-AU 12 131022721 131022721 single base substitution G A intron_variant MELA-AU 12 131022864 131022864 single base substitution G A intron_variant MELA-AU 12 131022955 131022955 single base substitution C T intron_variant MELA-AU 12 131023374 131023374 single base substitution C T intron_variant MELA-AU 12 131023384 131023384 single base substitution C T intron_variant MELA-AU 12 131023486 131023486 single base substitution G A intron_variant MELA-AU 12 131023559 131023559 single base substitution G A intron_variant MELA-AU 12 131023678 131023678 single base substitution C T intron_variant MELA-AU 12 131023698 131023698 single base substitution G A intron_variant MELA-AU 12 131023872 131023872 single base substitution G A intron_variant MELA-AU 12 131023886 131023886 single base substitution T A intron_variant MELA-AU 12 131023894 131023894 single base substitution G A intron_variant MELA-AU 12 131024117 131024117 single base substitution C T intron_variant MELA-AU 12 131024138 131024138 single base substitution G A intron_variant MELA-AU 12 131024156 131024156 single base substitution G A intron_variant MELA-AU 12 131024194 131024194 single base substitution G A intron_variant MELA-AU 12 131024214 131024214 single base substitution G A intron_variant MELA-AU 12 131024270 131024270 single base substitution G A intron_variant MELA-AU 12 131024349 131024349 single base substitution G A intron_variant MELA-AU 12 131024395 131024395 single base substitution C T intron_variant MELA-AU 12 131024767 131024767 single base substitution G A intron_variant MELA-AU 12 131024784 131024784 single base substitution G A intron_variant MELA-AU 12 131024793 131024793 single base substitution G A intron_variant MELA-AU 12 131024799 131024799 single base substitution G A intron_variant MELA-AU 12 131024820 131024820 single base substitution G A intron_variant MELA-AU 12 131024860 131024860 single base substitution G A intron_variant MELA-AU 12 131024908 131024909 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 12 131025002 131025002 single base substitution C T intron_variant MELA-AU 12 131025270 131025270 single base substitution G A intron_variant MELA-AU 12 131025286 131025286 single base substitution C T intron_variant MELA-AU 12 131025448 131025448 single base substitution C T intron_variant MELA-AU 12 131025467 131025467 single base substitution G A intron_variant MELA-AU 12 131025468 131025468 single base substitution G A intron_variant MELA-AU 12 131025514 131025514 single base substitution A T intron_variant MELA-AU 12 131025604 131025604 single base substitution G A intron_variant MELA-AU 12 131025747 131025747 single base substitution C T intron_variant MELA-AU 12 131025792 131025792 single base substitution C T intron_variant MELA-AU 12 131025994 131025994 single base substitution G A intron_variant MELA-AU 12 131026158 131026158 single base substitution G A intron_variant MELA-AU 12 131026174 131026174 single base substitution A G intron_variant MELA-AU 12 131026550 131026550 single base substitution C T intron_variant MELA-AU 12 131026712 131026712 single base substitution G A intron_variant MELA-AU 12 131026723 131026723 single base substitution G A intron_variant MELA-AU 12 131026740 131026740 single base substitution G A intron_variant MELA-AU 12 131026758 131026758 single base substitution G A intron_variant MELA-AU 12 131026898 131026898 single base substitution G C intron_variant MELA-AU 12 131026976 131026976 single base substitution G A intron_variant MELA-AU 12 131027150 131027150 single base substitution G A intron_variant MELA-AU 12 131027303 131027303 single base substitution G A intron_variant MELA-AU 12 131027315 131027315 single base substitution C T intron_variant MELA-AU 12 131027339 131027339 single base substitution C T intron_variant MELA-AU 12 131027340 131027340 single base substitution C T intron_variant MELA-AU 12 131027352 131027352 single base substitution G A intron_variant MELA-AU 12 131027510 131027510 single base substitution G A intron_variant MELA-AU 12 131027569 131027569 single base substitution C T intron_variant MELA-AU 12 131027738 131027738 single base substitution C T intron_variant MELA-AU 12 131027780 131027780 single base substitution G A intron_variant MELA-AU 12 131027844 131027844 single base substitution C T intron_variant MELA-AU 12 131027951 131027951 single base substitution A C intron_variant MELA-AU 12 131028127 131028127 single base substitution G A intron_variant MELA-AU 12 131028134 131028134 single base substitution G A intron_variant MELA-AU 12 131028147 131028147 single base substitution G A intron_variant MELA-AU 12 131028164 131028164 single base substitution G A intron_variant MELA-AU 12 131028195 131028195 single base substitution G A intron_variant MELA-AU 12 131028196 131028196 single base substitution G A intron_variant MELA-AU 12 131028276 131028276 single base substitution G A intron_variant MELA-AU 12 131028295 131028295 single base substitution C T intron_variant MELA-AU 12 131028316 131028316 single base substitution A C intron_variant MELA-AU 12 131028506 131028506 single base substitution C T intron_variant MELA-AU 12 131028507 131028507 single base substitution C T intron_variant MELA-AU 12 131028570 131028570 single base substitution G A intron_variant MELA-AU 12 131028585 131028585 single base substitution G C intron_variant MELA-AU 12 131028659 131028659 single base substitution C T intron_variant MELA-AU 12 131028736 131028736 single base substitution C T intron_variant MELA-AU 12 131028776 131028776 single base substitution G A intron_variant MELA-AU 12 131028799 131028799 single base substitution C T intron_variant MELA-AU 12 131028906 131028906 single base substitution C T intron_variant MELA-AU 12 131028997 131028997 single base substitution G A intron_variant MELA-AU 12 131029033 131029033 single base substitution C T intron_variant MELA-AU 12 131029035 131029035 single base substitution C T intron_variant MELA-AU 12 131029039 131029039 single base substitution C T intron_variant MELA-AU 12 131029180 131029180 single base substitution C T intron_variant MELA-AU 12 131029233 131029233 single base substitution C T intron_variant MELA-AU 12 131029240 131029240 single base substitution G A intron_variant MELA-AU 12 131029248 131029248 single base substitution G A intron_variant MELA-AU 12 131029363 131029363 single base substitution C T intron_variant MELA-AU 12 131029441 131029441 single base substitution G A intron_variant MELA-AU 12 131029486 131029486 single base substitution C T intron_variant MELA-AU 12 131029670 131029670 single base substitution C T intron_variant MELA-AU 12 131029694 131029694 single base substitution G A intron_variant MELA-AU 12 131029857 131029857 single base substitution G A intron_variant MELA-AU 12 131029953 131029953 single base substitution G A intron_variant MELA-AU 12 131030156 131030156 single base substitution C T intron_variant MELA-AU 12 131030187 131030187 single base substitution G A intron_variant MELA-AU 12 131030229 131030229 single base substitution C T intron_variant MELA-AU 12 131030309 131030309 single base substitution C T intron_variant MELA-AU 12 131030438 131030438 single base substitution G A intron_variant MELA-AU 12 131030504 131030504 single base substitution G A intron_variant MELA-AU 12 131030600 131030600 single base substitution C T intron_variant MELA-AU 12 131030784 131030784 single base substitution G A intron_variant MELA-AU 12 131030829 131030829 single base substitution T A intron_variant MELA-AU 12 131030969 131030969 single base substitution G A intron_variant MELA-AU 12 131031112 131031112 single base substitution A C intron_variant MELA-AU 12 131031133 131031133 single base substitution C T intron_variant MELA-AU 12 131031197 131031197 single base substitution C T intron_variant MELA-AU 12 131031216 131031216 single base substitution C T intron_variant MELA-AU 12 131031226 131031226 single base substitution G A intron_variant MELA-AU 12 131031551 131031551 single base substitution G A intron_variant MELA-AU 12 131031576 131031576 single base substitution G A intron_variant MELA-AU 12 131031586 131031586 single base substitution C T intron_variant MELA-AU 12 131031618 131031618 single base substitution C T intron_variant MELA-AU 12 131031746 131031746 single base substitution C T intron_variant MELA-AU 12 131031856 131031856 single base substitution C T intron_variant MELA-AU 12 131031883 131031883 single base substitution C T intron_variant MELA-AU 12 131031903 131031903 single base substitution G A intron_variant MELA-AU 12 131031998 131031998 single base substitution C T intron_variant MELA-AU 12 131032146 131032146 single base substitution G A intron_variant MELA-AU 12 131032159 131032159 single base substitution C T intron_variant MELA-AU 12 131032172 131032172 single base substitution G A intron_variant MELA-AU 12 131032217 131032217 single base substitution G A intron_variant MELA-AU 12 131032307 131032307 single base substitution G A intron_variant MELA-AU 12 131032334 131032334 single base substitution C T intron_variant MELA-AU 12 131032336 131032336 single base substitution C T intron_variant MELA-AU 12 131032479 131032479 single base substitution T C intron_variant MELA-AU 12 131032542 131032542 single base substitution G A intron_variant MELA-AU 12 131032574 131032574 single base substitution G A intron_variant MELA-AU 12 131032851 131032851 single base substitution C T intron_variant MELA-AU 12 131032859 131032859 single base substitution C T intron_variant MELA-AU 12 131032997 131032997 single base substitution G A intron_variant MELA-AU 12 131033063 131033063 single base substitution C T intron_variant MELA-AU 12 131033067 131033067 single base substitution C T intron_variant MELA-AU 12 131033270 131033270 single base substitution C T intron_variant MELA-AU 12 131033376 131033376 single base substitution G A intron_variant MELA-AU 12 131033397 131033397 single base substitution C T intron_variant MELA-AU 12 131033624 131033624 single base substitution G A intron_variant MELA-AU 12 131033726 131033726 single base substitution C T intron_variant MELA-AU 12 131033820 131033820 single base substitution C T intron_variant MELA-AU 12 131033936 131033936 single base substitution G A intron_variant MELA-AU 12 131033997 131033997 single base substitution T A intron_variant MELA-AU 12 131034013 131034013 single base substitution G A intron_variant MELA-AU 12 131034199 131034199 single base substitution C T intron_variant MELA-AU 12 131034204 131034204 single base substitution C T intron_variant MELA-AU 12 131034205 131034205 single base substitution C T intron_variant MELA-AU 12 131034213 131034213 single base substitution T A intron_variant MELA-AU 12 131034222 131034222 single base substitution A T intron_variant MELA-AU 12 131034392 131034392 single base substitution G A intron_variant MELA-AU 12 131034426 131034426 single base substitution G A intron_variant MELA-AU 12 131034550 131034550 single base substitution C T intron_variant MELA-AU 12 131034793 131034793 single base substitution C T intron_variant MELA-AU 12 131034841 131034841 single base substitution C T intron_variant MELA-AU 12 131034890 131034890 single base substitution C T intron_variant MELA-AU 12 131035033 131035033 single base substitution G A intron_variant MELA-AU 12 131035139 131035139 single base substitution T C intron_variant MELA-AU 12 131035175 131035175 single base substitution G A intron_variant MELA-AU 12 131035253 131035253 single base substitution G A intron_variant MELA-AU 12 131035256 131035256 single base substitution T C intron_variant MELA-AU 12 131035372 131035372 single base substitution G A intron_variant MELA-AU 12 131035418 131035418 single base substitution G A intron_variant MELA-AU 12 131035458 131035458 single base substitution G A intron_variant MELA-AU 12 131035469 131035469 single base substitution G A intron_variant MELA-AU 12 131035777 131035777 single base substitution C T intron_variant MELA-AU 12 131036062 131036062 single base substitution C T intron_variant MELA-AU 12 131036255 131036255 single base substitution C T intron_variant MELA-AU 12 131036261 131036261 single base substitution G A intron_variant MELA-AU 12 131036469 131036469 single base substitution G A intron_variant MELA-AU 12 131036643 131036643 single base substitution C T intron_variant MELA-AU 12 131036652 131036652 single base substitution G A intron_variant MELA-AU 12 131036687 131036687 single base substitution G A intron_variant MELA-AU 12 131036702 131036702 single base substitution G A intron_variant MELA-AU 12 131036721 131036721 single base substitution C T intron_variant MELA-AU 12 131036888 131036888 single base substitution G A intron_variant MELA-AU 12 131037038 131037038 single base substitution G A intron_variant MELA-AU 12 131037238 131037238 single base substitution G A intron_variant MELA-AU 12 131037445 131037445 single base substitution C T intron_variant MELA-AU 12 131037523 131037523 single base substitution C T intron_variant MELA-AU 12 131037710 131037710 single base substitution A G intron_variant MELA-AU 12 131037955 131037955 single base substitution C T intron_variant MELA-AU 12 131038041 131038041 single base substitution A G intron_variant MELA-AU 12 131038127 131038127 single base substitution G A intron_variant MELA-AU 12 131038215 131038215 single base substitution G A intron_variant MELA-AU 12 131038276 131038276 single base substitution G A intron_variant MELA-AU 12 131038379 131038379 single base substitution C T intron_variant MELA-AU 12 131038400 131038400 single base substitution G A intron_variant MELA-AU 12 131038431 131038431 single base substitution C T intron_variant MELA-AU 12 131038464 131038464 single base substitution G A intron_variant MELA-AU 12 131038473 131038473 single base substitution G A intron_variant MELA-AU 12 131038518 131038518 single base substitution G A intron_variant MELA-AU 12 131038692 131038692 single base substitution G A intron_variant MELA-AU 12 131038725 131038725 single base substitution C T intron_variant MELA-AU 12 131038986 131038986 single base substitution G A intron_variant MELA-AU 12 131039013 131039013 single base substitution G A intron_variant MELA-AU 12 131039014 131039014 single base substitution G A intron_variant MELA-AU 12 131039280 131039280 single base substitution G A intron_variant MELA-AU 12 131039299 131039299 single base substitution G A intron_variant MELA-AU 12 131039323 131039323 single base substitution C T intron_variant MELA-AU 12 131039462 131039462 single base substitution G A intron_variant MELA-AU 12 131039499 131039499 single base substitution C T intron_variant MELA-AU 12 131039629 131039629 single base substitution A C intron_variant MELA-AU 12 131039651 131039651 single base substitution G A intron_variant MELA-AU 12 131039674 131039674 single base substitution A C intron_variant MELA-AU 12 131039822 131039822 single base substitution G A intron_variant MELA-AU 12 131040000 131040000 single base substitution T C intron_variant MELA-AU 12 131040187 131040187 single base substitution G A intron_variant MELA-AU 12 131040196 131040196 single base substitution G A intron_variant MELA-AU 12 131040209 131040209 single base substitution C G intron_variant MELA-AU 12 131040274 131040274 single base substitution G A intron_variant MELA-AU 12 131040342 131040343 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 131040387 131040388 multiple base substitution (>=2bp and <=200bp) AA GC intron_variant MELA-AU 12 131040814 131040814 single base substitution C A intron_variant MELA-AU 12 131040897 131040897 single base substitution C T intron_variant MELA-AU 12 131041012 131041012 single base substitution G A intron_variant MELA-AU 12 131041016 131041016 single base substitution C T intron_variant MELA-AU 12 131041033 131041033 single base substitution G A intron_variant MELA-AU 12 131041155 131041155 single base substitution G A intron_variant MELA-AU 12 131041216 131041216 single base substitution C T intron_variant MELA-AU 12 131041225 131041225 single base substitution C T intron_variant MELA-AU 12 131041580 131041580 single base substitution G A intron_variant MELA-AU 12 131041627 131041627 single base substitution G A intron_variant MELA-AU 12 131041662 131041662 single base substitution C T intron_variant MELA-AU 12 131041734 131041734 single base substitution G A intron_variant MELA-AU 12 131041767 131041767 single base substitution G A intron_variant MELA-AU 12 131041790 131041790 single base substitution G A intron_variant MELA-AU 12 131041893 131041893 single base substitution C T intron_variant MELA-AU 12 131041931 131041931 single base substitution C T intron_variant MELA-AU 12 131041999 131041999 single base substitution C G intron_variant MELA-AU 12 131042020 131042020 single base substitution G A intron_variant MELA-AU 12 131042040 131042040 single base substitution C T intron_variant MELA-AU 12 131042046 131042046 single base substitution C T intron_variant MELA-AU 12 131042149 131042149 single base substitution G A intron_variant MELA-AU 12 131042218 131042218 single base substitution T A intron_variant MELA-AU 12 131042234 131042234 single base substitution G C intron_variant MELA-AU 12 131042392 131042392 single base substitution G A intron_variant MELA-AU 12 131042423 131042423 single base substitution C T intron_variant MELA-AU 12 131042492 131042492 single base substitution C T intron_variant MELA-AU 12 131042507 131042507 single base substitution C T intron_variant MELA-AU 12 131042512 131042512 single base substitution G A intron_variant MELA-AU 12 131042780 131042780 single base substitution C T intron_variant MELA-AU 12 131042996 131042996 single base substitution C T intron_variant MELA-AU 12 131043159 131043159 single base substitution G A intron_variant MELA-AU 12 131043168 131043168 single base substitution G A intron_variant MELA-AU 12 131043234 131043234 single base substitution C T intron_variant MELA-AU 12 131043289 131043289 single base substitution C T intron_variant MELA-AU 12 131043310 131043310 single base substitution G A intron_variant MELA-AU 12 131043377 131043377 single base substitution C T intron_variant MELA-AU 12 131043631 131043631 single base substitution G A intron_variant MELA-AU 12 131043857 131043857 single base substitution C T intron_variant MELA-AU 12 131044037 131044037 single base substitution C T intron_variant MELA-AU 12 131044041 131044041 single base substitution C T intron_variant MELA-AU 12 131044097 131044097 single base substitution C T intron_variant MELA-AU 12 131044174 131044174 single base substitution G A intron_variant MELA-AU 12 131044236 131044236 single base substitution C T intron_variant MELA-AU 12 131044354 131044354 single base substitution C T intron_variant MELA-AU 12 131044510 131044510 single base substitution T A intron_variant MELA-AU 12 131044522 131044522 single base substitution C A intron_variant MELA-AU 12 131044677 131044677 single base substitution G A intron_variant MELA-AU 12 131044781 131044781 single base substitution C T intron_variant MELA-AU 12 131044927 131044927 single base substitution C T intron_variant MELA-AU 12 131044958 131044958 single base substitution G A intron_variant MELA-AU 12 131044972 131044972 single base substitution C T intron_variant MELA-AU 12 131045086 131045086 single base substitution C T intron_variant MELA-AU 12 131045159 131045159 single base substitution C T intron_variant MELA-AU 12 131045466 131045466 single base substitution G A intron_variant MELA-AU 12 131045492 131045492 single base substitution G A intron_variant MELA-AU 12 131045554 131045554 single base substitution G A intron_variant MELA-AU 12 131045555 131045555 single base substitution G A intron_variant MELA-AU 12 131045592 131045592 single base substitution C T intron_variant MELA-AU 12 131045620 131045620 single base substitution G A intron_variant MELA-AU 12 131045665 131045665 single base substitution C T intron_variant MELA-AU 12 131045677 131045678 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 131045678 131045678 single base substitution G A intron_variant MELA-AU 12 131045861 131045861 single base substitution C T intron_variant MELA-AU 12 131045917 131045917 single base substitution G A intron_variant MELA-AU 12 131045990 131045990 single base substitution G A intron_variant MELA-AU 12 131046014 131046014 single base substitution G A intron_variant MELA-AU 12 131046024 131046024 single base substitution C T intron_variant MELA-AU 12 131046032 131046032 single base substitution C T intron_variant MELA-AU 12 131046073 131046073 single base substitution C T intron_variant MELA-AU 12 131046105 131046105 single base substitution G A intron_variant MELA-AU 12 131046270 131046270 single base substitution G A intron_variant MELA-AU 12 131046319 131046319 single base substitution C T intron_variant MELA-AU 12 131046361 131046361 single base substitution C T intron_variant MELA-AU 12 131046445 131046445 single base substitution G A intron_variant MELA-AU 12 131046493 131046493 single base substitution G T intron_variant MELA-AU 12 131046521 131046521 single base substitution G A intron_variant MELA-AU 12 131046531 131046531 single base substitution G A intron_variant MELA-AU 12 131046622 131046622 single base substitution G A intron_variant MELA-AU 12 131046631 131046631 single base substitution C T intron_variant MELA-AU 12 131046797 131046797 single base substitution G A intron_variant MELA-AU 12 131046825 131046825 single base substitution G C intron_variant MELA-AU 12 131046970 131046970 single base substitution C T intron_variant MELA-AU 12 131047034 131047034 single base substitution G A intron_variant MELA-AU 12 131047066 131047066 single base substitution G A intron_variant MELA-AU 12 131047071 131047071 single base substitution G A intron_variant MELA-AU 12 131047075 131047075 single base substitution T A intron_variant MELA-AU 12 131047090 131047090 single base substitution G A intron_variant MELA-AU 12 131047110 131047110 single base substitution G A intron_variant MELA-AU 12 131047120 131047120 single base substitution T A intron_variant MELA-AU 12 131047228 131047228 single base substitution G A intron_variant MELA-AU 12 131047236 131047236 single base substitution C T intron_variant MELA-AU 12 131047272 131047272 single base substitution G A intron_variant MELA-AU 12 131047322 131047322 single base substitution G A intron_variant MELA-AU 12 131047330 131047330 single base substitution G A intron_variant MELA-AU 12 131047442 131047442 single base substitution G A intron_variant MELA-AU 12 131047624 131047624 single base substitution A T intron_variant MELA-AU 12 131047731 131047731 single base substitution C T intron_variant MELA-AU 12 131047927 131047927 single base substitution A T intron_variant MELA-AU 12 131048007 131048007 single base substitution G A intron_variant MELA-AU 12 131048106 131048106 single base substitution G A intron_variant MELA-AU 12 131048282 131048282 single base substitution G T intron_variant MELA-AU 12 131048286 131048286 single base substitution C T intron_variant MELA-AU 12 131048358 131048358 single base substitution G A intron_variant MELA-AU 12 131048760 131048760 single base substitution C T intron_variant MELA-AU 12 131048803 131048803 single base substitution C T intron_variant MELA-AU 12 131048971 131048971 single base substitution T C intron_variant MELA-AU 12 131049117 131049117 single base substitution G A intron_variant MELA-AU 12 131049122 131049122 single base substitution A G intron_variant MELA-AU 12 131049125 131049125 single base substitution G A intron_variant MELA-AU 12 131049183 131049183 single base substitution G A intron_variant MELA-AU 12 131049222 131049222 single base substitution C T intron_variant MELA-AU 12 131049291 131049291 single base substitution G A intron_variant MELA-AU 12 131049306 131049306 single base substitution A G intron_variant MELA-AU 12 131049515 131049515 single base substitution G A intron_variant MELA-AU 12 131049587 131049587 single base substitution C T intron_variant MELA-AU 12 131049958 131049958 single base substitution C G intron_variant MELA-AU 12 131049960 131049960 single base substitution C T intron_variant MELA-AU 12 131050178 131050178 single base substitution C T intron_variant MELA-AU 12 131050219 131050219 single base substitution C T intron_variant MELA-AU 12 131050343 131050343 single base substitution G A intron_variant MELA-AU 12 131050390 131050391 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 131050440 131050440 single base substitution C T intron_variant MELA-AU 12 131050560 131050560 single base substitution G A intron_variant MELA-AU 12 131050799 131050799 single base substitution C T intron_variant MELA-AU 12 131050832 131050832 single base substitution G A intron_variant MELA-AU 12 131050942 131050942 single base substitution C T intron_variant MELA-AU 12 131051029 131051029 single base substitution C T intron_variant MELA-AU 12 131051090 131051090 single base substitution C T intron_variant MELA-AU 12 131051162 131051162 single base substitution A G intron_variant MELA-AU 12 131051164 131051164 single base substitution T C intron_variant MELA-AU 12 131051269 131051269 single base substitution C T intron_variant MELA-AU 12 131051283 131051283 single base substitution G A intron_variant MELA-AU 12 131051535 131051535 single base substitution G A intron_variant MELA-AU 12 131051615 131051615 single base substitution G A intron_variant MELA-AU 12 131051646 131051646 single base substitution G A intron_variant MELA-AU 12 131051649 131051649 single base substitution A T intron_variant MELA-AU 12 131051700 131051700 single base substitution G A intron_variant MELA-AU 12 131051993 131051993 single base substitution C T intron_variant MELA-AU 12 131052022 131052022 single base substitution G A intron_variant MELA-AU 12 131052068 131052068 single base substitution G A intron_variant MELA-AU 12 131052082 131052082 single base substitution G A intron_variant MELA-AU 12 131052220 131052220 single base substitution C T intron_variant MELA-AU 12 131052257 131052257 single base substitution C T intron_variant MELA-AU 12 131052306 131052306 single base substitution C T intron_variant MELA-AU 12 131052401 131052401 single base substitution C T intron_variant MELA-AU 12 131052515 131052515 single base substitution G A intron_variant MELA-AU 12 131052549 131052549 single base substitution G A intron_variant MELA-AU 12 131052640 131052640 single base substitution G A intron_variant MELA-AU 12 131052819 131052819 single base substitution G A intron_variant MELA-AU 12 131052883 131052883 single base substitution C T intron_variant MELA-AU 12 131053087 131053087 single base substitution C T intron_variant MELA-AU 12 131053138 131053138 single base substitution G A intron_variant MELA-AU 12 131053157 131053157 single base substitution G A intron_variant MELA-AU 12 131053170 131053170 single base substitution G A intron_variant MELA-AU 12 131053174 131053174 single base substitution A G intron_variant MELA-AU 12 131053334 131053334 single base substitution C T intron_variant MELA-AU 12 131053413 131053413 single base substitution C T intron_variant MELA-AU 12 131053431 131053431 single base substitution G A intron_variant MELA-AU 12 131053443 131053443 single base substitution G A intron_variant MELA-AU 12 131053793 131053793 single base substitution G A intron_variant MELA-AU 12 131053807 131053807 single base substitution G A intron_variant MELA-AU 12 131053881 131053881 single base substitution C A intron_variant MELA-AU 12 131053916 131053916 single base substitution C T intron_variant MELA-AU 12 131054139 131054139 single base substitution G A intron_variant MELA-AU 12 131054177 131054177 single base substitution G A intron_variant MELA-AU 12 131054302 131054302 single base substitution C T intron_variant MELA-AU 12 131054360 131054360 single base substitution C A intron_variant MELA-AU 12 131054494 131054494 single base substitution C T intron_variant MELA-AU 12 131054499 131054499 single base substitution G A intron_variant MELA-AU 12 131054530 131054530 single base substitution C T intron_variant MELA-AU 12 131054572 131054572 single base substitution G A intron_variant MELA-AU 12 131054584 131054584 single base substitution C T intron_variant MELA-AU 12 131054679 131054679 single base substitution G A intron_variant MELA-AU 12 131054745 131054745 single base substitution G A intron_variant MELA-AU 12 131054882 131054882 single base substitution G A intron_variant MELA-AU 12 131054890 131054890 single base substitution G A intron_variant MELA-AU 12 131054954 131054954 single base substitution G A intron_variant MELA-AU 12 131054997 131054997 single base substitution G A intron_variant MELA-AU 12 131055028 131055028 single base substitution C T intron_variant MELA-AU 12 131055038 131055038 single base substitution G A intron_variant MELA-AU 12 131055065 131055065 single base substitution G A intron_variant MELA-AU 12 131055208 131055208 single base substitution C T intron_variant MELA-AU 12 131055356 131055356 single base substitution G A intron_variant MELA-AU 12 131055439 131055439 single base substitution G A intron_variant MELA-AU 12 131055469 131055469 single base substitution G A intron_variant MELA-AU 12 131055562 131055562 single base substitution G A intron_variant MELA-AU 12 131055779 131055779 single base substitution G A intron_variant MELA-AU 12 131055932 131055932 single base substitution C T intron_variant MELA-AU 12 131056050 131056050 single base substitution C T intron_variant MELA-AU 12 131056149 131056149 single base substitution G A intron_variant MELA-AU 12 131056303 131056303 single base substitution C T intron_variant MELA-AU 12 131056489 131056489 single base substitution C T intron_variant MELA-AU 12 131056518 131056518 single base substitution C T intron_variant MELA-AU 12 131056530 131056530 single base substitution G A intron_variant MELA-AU 12 131056701 131056701 single base substitution C T intron_variant MELA-AU 12 131056706 131056706 single base substitution G A intron_variant MELA-AU 12 131056937 131056937 single base substitution C T intron_variant MELA-AU 12 131057056 131057056 single base substitution C T intron_variant MELA-AU 12 131057065 131057065 single base substitution C T intron_variant MELA-AU 12 131057257 131057257 single base substitution G T intron_variant MELA-AU 12 131057400 131057400 single base substitution G A intron_variant MELA-AU 12 131057466 131057466 single base substitution G C intron_variant MELA-AU 12 131057499 131057499 single base substitution C T intron_variant MELA-AU 12 131057632 131057632 single base substitution G A intron_variant MELA-AU 12 131057881 131057881 single base substitution T A intron_variant MELA-AU 12 131057938 131057938 single base substitution C T intron_variant MELA-AU 12 131058001 131058001 single base substitution G A intron_variant MELA-AU 12 131058186 131058186 single base substitution C T intron_variant MELA-AU 12 131058192 131058192 deletion of <=200bp G - intron_variant MELA-AU 12 131058444 131058444 single base substitution C T intron_variant MELA-AU 12 131058461 131058461 single base substitution C T intron_variant MELA-AU 12 131058578 131058578 single base substitution C T intron_variant MELA-AU 12 131058588 131058588 single base substitution G A intron_variant MELA-AU 12 131058813 131058813 single base substitution G A intron_variant MELA-AU 12 131058897 131058897 single base substitution C T intron_variant MELA-AU 12 131058924 131058924 single base substitution C T intron_variant MELA-AU 12 131059023 131059023 single base substitution C T intron_variant MELA-AU 12 131059074 131059074 single base substitution C T intron_variant MELA-AU 12 131059821 131059821 single base substitution C T intron_variant MELA-AU 12 131059969 131059969 single base substitution C T intron_variant MELA-AU 12 131060277 131060277 single base substitution G A intron_variant MELA-AU 12 131060521 131060521 single base substitution G A intron_variant MELA-AU 12 131060573 131060573 single base substitution G A intron_variant MELA-AU 12 131060674 131060674 single base substitution G A intron_variant MELA-AU 12 131060682 131060682 single base substitution G A intron_variant MELA-AU 12 131060723 131060723 single base substitution G A intron_variant MELA-AU 12 131060891 131060891 single base substitution T C intron_variant MELA-AU 12 131061034 131061034 single base substitution C T intron_variant MELA-AU 12 131061040 131061040 single base substitution G A intron_variant MELA-AU 12 131061111 131061111 single base substitution A G intron_variant MELA-AU 12 131061139 131061139 single base substitution G A intron_variant MELA-AU 12 131061171 131061171 single base substitution G A intron_variant MELA-AU 12 131061178 131061178 single base substitution G A intron_variant MELA-AU 12 131061198 131061198 single base substitution G A intron_variant MELA-AU 12 131061216 131061216 single base substitution G A intron_variant MELA-AU 12 131061325 131061325 single base substitution C T intron_variant MELA-AU 12 131061410 131061410 single base substitution C T intron_variant MELA-AU 12 131061411 131061411 single base substitution C T intron_variant MELA-AU 12 131061444 131061444 single base substitution C T intron_variant MELA-AU 12 131061474 131061474 single base substitution G A intron_variant MELA-AU 12 131061493 131061493 single base substitution G A intron_variant MELA-AU 12 131061502 131061502 single base substitution G A intron_variant MELA-AU 12 131061678 131061678 single base substitution C T intron_variant MELA-AU 12 131061826 131061826 single base substitution G A intron_variant MELA-AU 12 131061881 131061881 single base substitution C T intron_variant MELA-AU 12 131061935 131061935 single base substitution G A intron_variant MELA-AU 12 131061980 131061980 single base substitution G A intron_variant MELA-AU 12 131062037 131062037 single base substitution G A intron_variant MELA-AU 12 131062148 131062148 single base substitution C T intron_variant MELA-AU 12 131062165 131062165 single base substitution C T intron_variant MELA-AU 12 131062259 131062259 single base substitution C T intron_variant MELA-AU 12 131062554 131062554 single base substitution A C intron_variant MELA-AU 12 131062584 131062584 single base substitution G A intron_variant MELA-AU 12 131062624 131062624 single base substitution G A intron_variant MELA-AU 12 131062695 131062695 single base substitution G A intron_variant MELA-AU 12 131062919 131062919 single base substitution C T intron_variant MELA-AU 12 131062959 131062959 single base substitution C T intron_variant MELA-AU 12 131062982 131063010 deletion of <=200bp CCTGCCTCACCTGTCCAACCTCGCCTTGA - intron_variant MELA-AU 12 131063056 131063056 single base substitution C T intron_variant MELA-AU 12 131063067 131063067 single base substitution C T intron_variant MELA-AU 12 131063091 131063091 single base substitution C T intron_variant MELA-AU 12 131063118 131063119 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 131063164 131063164 single base substitution G A intron_variant MELA-AU 12 131063184 131063184 single base substitution C T intron_variant MELA-AU 12 131063230 131063230 single base substitution C T intron_variant MELA-AU 12 131063290 131063290 single base substitution C A intron_variant MELA-AU 12 131063358 131063358 single base substitution A C intron_variant MELA-AU 12 131063359 131063359 single base substitution G A intron_variant MELA-AU 12 131063437 131063437 single base substitution C T intron_variant MELA-AU 12 131063543 131063543 single base substitution G A intron_variant MELA-AU 12 131063565 131063565 single base substitution G A intron_variant MELA-AU 12 131063584 131063584 single base substitution C T intron_variant MELA-AU 12 131063623 131063623 single base substitution C T intron_variant MELA-AU 12 131063742 131063742 single base substitution G A intron_variant MELA-AU 12 131063914 131063915 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 131064062 131064062 single base substitution C T intron_variant MELA-AU 12 131064181 131064181 single base substitution G A intron_variant MELA-AU 12 131064190 131064190 single base substitution G A intron_variant MELA-AU 12 131064219 131064233 deletion of <=200bp AAGCTCATTGAGTAA - intron_variant MELA-AU 12 131064379 131064379 single base substitution G A intron_variant MELA-AU 12 131064520 131064520 single base substitution G A intron_variant MELA-AU 12 131064527 131064527 single base substitution A C intron_variant MELA-AU 12 131064655 131064655 single base substitution A G intron_variant MELA-AU 12 131064707 131064707 single base substitution C T intron_variant MELA-AU 12 131064919 131064919 single base substitution C T intron_variant MELA-AU 12 131064921 131064921 single base substitution C A intron_variant MELA-AU 12 131064989 131064989 single base substitution C T intron_variant MELA-AU 12 131065129 131065129 single base substitution G A intron_variant MELA-AU 12 131065264 131065264 single base substitution C T intron_variant MELA-AU 12 131065324 131065324 single base substitution A G intron_variant MELA-AU 12 131065348 131065348 single base substitution G A intron_variant MELA-AU 12 131065605 131065605 single base substitution C T intron_variant MELA-AU 12 131065622 131065622 single base substitution C T intron_variant MELA-AU 12 131065762 131065762 single base substitution G A intron_variant MELA-AU 12 131065963 131065963 single base substitution C T intron_variant MELA-AU 12 131066213 131066213 single base substitution G A intron_variant MELA-AU 12 131066316 131066316 single base substitution C T intron_variant MELA-AU 12 131066452 131066452 single base substitution G A intron_variant MELA-AU 12 131066530 131066530 single base substitution G A intron_variant MELA-AU 12 131066572 131066572 single base substitution C T intron_variant MELA-AU 12 131066672 131066672 single base substitution C T intron_variant MELA-AU 12 131066780 131066780 single base substitution G A intron_variant MELA-AU 12 131066999 131066999 single base substitution C T intron_variant MELA-AU 12 131067545 131067545 single base substitution G T intron_variant MELA-AU 12 131067851 131067851 single base substitution G A intron_variant MELA-AU 12 131067920 131067920 single base substitution C T intron_variant MELA-AU 12 131068047 131068047 single base substitution C T intron_variant MELA-AU 12 131068125 131068125 single base substitution C T intron_variant MELA-AU 12 131068187 131068187 single base substitution C T intron_variant MELA-AU 12 131068198 131068198 single base substitution C T intron_variant MELA-AU 12 131068271 131068271 single base substitution C T intron_variant MELA-AU 12 131068284 131068284 single base substitution C T intron_variant MELA-AU 12 131068497 131068497 single base substitution C T intron_variant MELA-AU 12 131068530 131068530 single base substitution C T intron_variant MELA-AU 12 131068548 131068548 single base substitution C A intron_variant MELA-AU 12 131068898 131068898 single base substitution C T intron_variant MELA-AU 12 131068975 131068975 single base substitution C T intron_variant MELA-AU 12 131069027 131069027 single base substitution C T intron_variant MELA-AU 12 131069107 131069107 single base substitution C T intron_variant MELA-AU 12 131069152 131069152 single base substitution C T intron_variant MELA-AU 12 131069158 131069158 single base substitution C T intron_variant MELA-AU 12 131069181 131069181 single base substitution C T intron_variant MELA-AU 12 131069227 131069227 single base substitution A C intron_variant MELA-AU 12 131069267 131069267 single base substitution A C intron_variant MELA-AU 12 131069289 131069289 single base substitution C T intron_variant MELA-AU 12 131069295 131069295 single base substitution T A intron_variant MELA-AU 12 131069324 131069324 single base substitution C T intron_variant MELA-AU 12 131069398 131069398 single base substitution C T intron_variant MELA-AU 12 131069485 131069485 single base substitution G A intron_variant MELA-AU 12 131069499 131069499 single base substitution G A intron_variant MELA-AU 12 131069524 131069524 single base substitution C T intron_variant MELA-AU 12 131069655 131069655 single base substitution G A intron_variant MELA-AU 12 131069799 131069799 single base substitution G A intron_variant MELA-AU 12 131069867 131069867 single base substitution G A intron_variant MELA-AU 12 131070236 131070236 single base substitution G A intron_variant MELA-AU 12 131070248 131070248 single base substitution G A intron_variant MELA-AU 12 131070762 131070762 single base substitution G A intron_variant MELA-AU 12 131070782 131070782 single base substitution G A intron_variant MELA-AU 12 131070817 131070817 single base substitution G A intron_variant MELA-AU 12 131071033 131071033 single base substitution C T intron_variant MELA-AU 12 131072430 131072430 single base substitution C T intron_variant MELA-AU 12 131072595 131072595 single base substitution C T intron_variant MELA-AU 12 131072766 131072766 single base substitution C T intron_variant MELA-AU 12 131072816 131072816 single base substitution T G intron_variant MELA-AU 12 131072823 131072823 single base substitution C T intron_variant MELA-AU 12 131072953 131072953 single base substitution G T intron_variant MELA-AU 12 131073089 131073089 single base substitution G A intron_variant MELA-AU 12 131073325 131073325 single base substitution C T intron_variant MELA-AU 12 131073477 131073477 single base substitution G A intron_variant MELA-AU 12 131074002 131074002 single base substitution C T intron_variant MELA-AU 12 131074053 131074053 single base substitution G A intron_variant MELA-AU 12 131074129 131074129 single base substitution G A intron_variant MELA-AU 12 131074190 131074190 single base substitution G A intron_variant MELA-AU 12 131074212 131074212 single base substitution C T intron_variant MELA-AU 12 131074821 131074821 single base substitution G A intron_variant MELA-AU 12 131075249 131075249 single base substitution A G intron_variant MELA-AU 12 131075339 131075339 single base substitution G A intron_variant MELA-AU 12 131075398 131075398 single base substitution C T intron_variant MELA-AU 12 131075494 131075494 single base substitution G A intron_variant MELA-AU 12 131075529 131075529 single base substitution C T intron_variant MELA-AU 12 131075649 131075649 single base substitution C T intron_variant MELA-AU 12 131075993 131075993 single base substitution G A intron_variant MELA-AU 12 131076185 131076185 single base substitution C T intron_variant MELA-AU 12 131076210 131076211 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 131076229 131076229 single base substitution G A intron_variant MELA-AU 12 131076241 131076241 single base substitution G T intron_variant MELA-AU 12 131076272 131076272 single base substitution G A intron_variant MELA-AU 12 131076285 131076285 single base substitution G A intron_variant MELA-AU 12 131076340 131076340 single base substitution C T intron_variant MELA-AU 12 131076374 131076374 single base substitution G A intron_variant MELA-AU 12 131076597 131076597 single base substitution G A intron_variant MELA-AU 12 131076662 131076662 single base substitution C T intron_variant MELA-AU 12 131076773 131076773 single base substitution C T intron_variant MELA-AU 12 131076959 131076959 single base substitution G A intron_variant MELA-AU 12 131077025 131077025 single base substitution G T intron_variant MELA-AU 12 131077033 131077033 single base substitution A C intron_variant MELA-AU 12 131077128 131077128 single base substitution G A intron_variant MELA-AU 12 131077326 131077326 single base substitution G A intron_variant MELA-AU 12 131077351 131077351 single base substitution G A intron_variant MELA-AU 12 131077353 131077353 single base substitution A T intron_variant MELA-AU 12 131077413 131077413 single base substitution C T intron_variant MELA-AU 12 131077422 131077422 single base substitution G A intron_variant MELA-AU 12 131077479 131077479 single base substitution T C intron_variant MELA-AU 12 131077644 131077644 single base substitution C T intron_variant MELA-AU 12 131077865 131077865 single base substitution G A intron_variant MELA-AU 12 131077907 131077907 single base substitution G A intron_variant MELA-AU 12 131077970 131077970 single base substitution G A intron_variant MELA-AU 12 131078070 131078070 single base substitution G A intron_variant MELA-AU 12 131078071 131078071 single base substitution G A intron_variant MELA-AU 12 131078116 131078116 single base substitution C T intron_variant MELA-AU 12 131078117 131078117 single base substitution C T intron_variant MELA-AU 12 131078143 131078143 single base substitution G A intron_variant MELA-AU 12 131078180 131078181 multiple base substitution (>=2bp and <=200bp) CA TG intron_variant MELA-AU 12 131078192 131078192 single base substitution G A intron_variant MELA-AU 12 131078202 131078202 single base substitution G A intron_variant MELA-AU 12 131078313 131078313 single base substitution C T intron_variant MELA-AU 12 131078331 131078331 single base substitution C T intron_variant MELA-AU 12 131078395 131078395 single base substitution C T intron_variant MELA-AU 12 131078413 131078413 single base substitution C T intron_variant MELA-AU 12 131078418 131078418 single base substitution C T intron_variant MELA-AU 12 131078424 131078424 single base substitution C T intron_variant MELA-AU 12 131078447 131078447 single base substitution C T intron_variant MELA-AU 12 131078468 131078468 single base substitution G A intron_variant MELA-AU 12 131078681 131078681 single base substitution C T intron_variant MELA-AU 12 131078682 131078682 single base substitution C T intron_variant MELA-AU 12 131078866 131078866 single base substitution C T intron_variant MELA-AU 12 131078893 131078893 single base substitution G A intron_variant MELA-AU 12 131078978 131078978 single base substitution G A intron_variant MELA-AU 12 131079026 131079026 single base substitution C T intron_variant MELA-AU 12 131079149 131079149 single base substitution G A intron_variant MELA-AU 12 131079565 131079565 single base substitution C T intron_variant MELA-AU 12 131079585 131079585 single base substitution C T intron_variant MELA-AU 12 131079774 131079774 single base substitution C A intron_variant MELA-AU 12 131079776 131079776 single base substitution G A intron_variant MELA-AU 12 131079816 131079816 single base substitution C T intron_variant MELA-AU 12 131079879 131079879 single base substitution G A intron_variant MELA-AU 12 131080161 131080161 single base substitution T A intron_variant MELA-AU 12 131080297 131080297 single base substitution C T intron_variant MELA-AU 12 131080331 131080331 single base substitution G A intron_variant MELA-AU 12 131080353 131080353 single base substitution G A intron_variant MELA-AU 12 131080447 131080447 single base substitution G A intron_variant MELA-AU 12 131080518 131080518 single base substitution A G intron_variant MELA-AU 12 131080752 131080752 single base substitution G A intron_variant MELA-AU 12 131080766 131080766 single base substitution G A intron_variant MELA-AU 12 131080790 131080790 single base substitution G A intron_variant MELA-AU 12 131080932 131080932 single base substitution C T intron_variant MELA-AU 12 131081081 131081081 single base substitution G A intron_variant MELA-AU 12 131081083 131081083 single base substitution A T intron_variant MELA-AU 12 131081237 131081237 single base substitution A T intron_variant MELA-AU 12 131081320 131081320 single base substitution C T intron_variant MELA-AU 12 131081341 131081341 single base substitution A C intron_variant MELA-AU 12 131081403 131081403 single base substitution G A intron_variant MELA-AU 12 131081595 131081595 single base substitution C T intron_variant MELA-AU 12 131081637 131081637 single base substitution G A intron_variant MELA-AU 12 131081749 131081749 single base substitution C T intron_variant MELA-AU 12 131081794 131081794 single base substitution T A intron_variant MELA-AU 12 131081812 131081812 single base substitution G A intron_variant MELA-AU 12 131081852 131081852 single base substitution G A intron_variant MELA-AU 12 131082055 131082055 single base substitution G A intron_variant MELA-AU 12 131082212 131082212 single base substitution G A intron_variant MELA-AU 12 131082284 131082284 single base substitution C T intron_variant MELA-AU 12 131082368 131082368 single base substitution G A intron_variant MELA-AU 12 131082372 131082372 single base substitution C A intron_variant MELA-AU 12 131082373 131082373 single base substitution G A intron_variant MELA-AU 12 131082474 131082474 single base substitution G A intron_variant MELA-AU 12 131082487 131082487 single base substitution G A intron_variant MELA-AU 12 131082540 131082540 single base substitution G A intron_variant MELA-AU 12 131082788 131082788 single base substitution T A intron_variant MELA-AU 12 131082892 131082892 single base substitution C T intron_variant MELA-AU 12 131083156 131083156 single base substitution C T intron_variant MELA-AU 12 131083227 131083227 single base substitution C T intron_variant MELA-AU 12 131083389 131083389 single base substitution C T intron_variant MELA-AU 12 131083608 131083608 single base substitution C T intron_variant MELA-AU 12 131083622 131083622 single base substitution G A intron_variant MELA-AU 12 131083658 131083658 single base substitution C T intron_variant MELA-AU 12 131083664 131083664 single base substitution C T intron_variant MELA-AU 12 131083831 131083831 single base substitution G A intron_variant MELA-AU 12 131084077 131084077 single base substitution G A intron_variant MELA-AU 12 131084347 131084347 single base substitution C T intron_variant MELA-AU 12 131084357 131084357 single base substitution G A intron_variant MELA-AU 12 131084373 131084373 single base substitution G A intron_variant MELA-AU 12 131084563 131084563 single base substitution C T intron_variant MELA-AU 12 131084675 131084675 single base substitution C T intron_variant MELA-AU 12 131084784 131084784 single base substitution C T intron_variant MELA-AU 12 131084925 131084925 single base substitution C T intron_variant MELA-AU 12 131084998 131084998 single base substitution G A intron_variant MELA-AU 12 131085044 131085045 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 131085045 131085045 single base substitution C T intron_variant MELA-AU 12 131085080 131085080 single base substitution C T intron_variant MELA-AU 12 131085152 131085152 single base substitution G A intron_variant MELA-AU 12 131085174 131085174 single base substitution G A intron_variant MELA-AU 12 131085361 131085361 single base substitution C T intron_variant MELA-AU 12 131085425 131085425 single base substitution C T intron_variant MELA-AU 12 131085775 131085775 single base substitution C T intron_variant MELA-AU 12 131085841 131085841 single base substitution C T intron_variant MELA-AU 12 131085858 131085858 single base substitution G A intron_variant MELA-AU 12 131085859 131085859 single base substitution G A intron_variant MELA-AU 12 131086009 131086009 single base substitution T A intron_variant MELA-AU 12 131086195 131086195 single base substitution C T intron_variant MELA-AU 12 131086313 131086313 single base substitution C T intron_variant MELA-AU 12 131086499 131086499 single base substitution C T intron_variant MELA-AU 12 131086698 131086698 single base substitution G A intron_variant MELA-AU 12 131086763 131086763 single base substitution C T intron_variant MELA-AU 12 131086819 131086819 single base substitution G A intron_variant MELA-AU 12 131086957 131086957 single base substitution G A intron_variant MELA-AU 12 131086959 131086959 single base substitution G A intron_variant MELA-AU 12 131087051 131087051 single base substitution C T intron_variant MELA-AU 12 131087268 131087268 single base substitution C T intron_variant MELA-AU 12 131087393 131087393 single base substitution G A intron_variant MELA-AU 12 131087465 131087465 single base substitution C T intron_variant MELA-AU 12 131087483 131087483 single base substitution G A intron_variant MELA-AU 12 131087590 131087590 single base substitution G A intron_variant MELA-AU 12 131087601 131087601 single base substitution C T intron_variant MELA-AU 12 131087678 131087678 single base substitution G A intron_variant MELA-AU 12 131087796 131087796 single base substitution C T intron_variant MELA-AU 12 131087932 131087932 single base substitution G A intron_variant MELA-AU 12 131087993 131087993 single base substitution G A intron_variant MELA-AU 12 131088071 131088071 single base substitution G A intron_variant MELA-AU 12 131088214 131088214 single base substitution C T intron_variant MELA-AU 12 131088374 131088374 single base substitution G A intron_variant MELA-AU 12 131088513 131088513 single base substitution T C intron_variant MELA-AU 12 131088649 131088649 single base substitution G A intron_variant MELA-AU 12 131088759 131088759 single base substitution G A intron_variant MELA-AU 12 131088963 131088963 single base substitution C T intron_variant MELA-AU 12 131089076 131089076 single base substitution C A intron_variant MELA-AU 12 131089315 131089315 single base substitution G A intron_variant MELA-AU 12 131089567 131089567 single base substitution C G intron_variant MELA-AU 12 131089582 131089582 single base substitution C T intron_variant MELA-AU 12 131089613 131089613 single base substitution C T intron_variant MELA-AU 12 131089622 131089622 single base substitution G A intron_variant MELA-AU 12 131090055 131090055 single base substitution G A intron_variant MELA-AU 12 131090195 131090195 single base substitution G A intron_variant MELA-AU 12 131090406 131090406 single base substitution C T intron_variant MELA-AU 12 131090416 131090416 single base substitution C T intron_variant MELA-AU 12 131090566 131090566 single base substitution C T intron_variant MELA-AU 12 131090571 131090571 single base substitution C T intron_variant MELA-AU 12 131090588 131090588 single base substitution G T intron_variant MELA-AU 12 131090868 131090868 single base substitution C T intron_variant MELA-AU 12 131090963 131090963 single base substitution G A intron_variant MELA-AU 12 131090983 131090983 single base substitution C T intron_variant MELA-AU 12 131091074 131091074 single base substitution G A intron_variant MELA-AU 12 131091270 131091270 single base substitution G A intron_variant MELA-AU 12 131091318 131091318 single base substitution G A intron_variant MELA-AU 12 131091350 131091350 single base substitution C T intron_variant MELA-AU 12 131091497 131091497 single base substitution C T intron_variant MELA-AU 12 131091499 131091499 single base substitution C T intron_variant MELA-AU 12 131091906 131091906 single base substitution C T intron_variant MELA-AU 12 131092430 131092430 single base substitution A T intron_variant MELA-AU 12 131092478 131092478 single base substitution T C intron_variant MELA-AU 12 131092507 131092507 single base substitution C T intron_variant MELA-AU 12 131092508 131092508 single base substitution C T intron_variant MELA-AU 12 131092636 131092636 single base substitution C T intron_variant MELA-AU 12 131092689 131092689 single base substitution G A intron_variant MELA-AU 12 131092695 131092695 single base substitution G A intron_variant MELA-AU 12 131092750 131092750 single base substitution G T intron_variant MELA-AU 12 131092965 131092965 single base substitution C T intron_variant MELA-AU 12 131093054 131093054 single base substitution G A intron_variant MELA-AU 12 131093066 131093066 single base substitution C T intron_variant MELA-AU 12 131093118 131093118 single base substitution C T intron_variant MELA-AU 12 131093186 131093186 single base substitution G A intron_variant MELA-AU 12 131093213 131093213 single base substitution C T intron_variant MELA-AU 12 131093282 131093282 single base substitution G A intron_variant MELA-AU 12 131093324 131093324 single base substitution G A intron_variant MELA-AU 12 131093625 131093625 single base substitution C T intron_variant MELA-AU 12 131093647 131093647 single base substitution G A intron_variant MELA-AU 12 131093648 131093648 single base substitution G A intron_variant MELA-AU 12 131093671 131093671 single base substitution G A intron_variant MELA-AU 12 131093682 131093682 single base substitution G A intron_variant MELA-AU 12 131093699 131093699 single base substitution G A intron_variant MELA-AU 12 131093713 131093713 single base substitution G A intron_variant MELA-AU 12 131093728 131093728 single base substitution C T intron_variant MELA-AU 12 131093738 131093738 single base substitution G A intron_variant MELA-AU 12 131093922 131093922 single base substitution G A intron_variant MELA-AU 12 131093970 131093970 single base substitution G A intron_variant MELA-AU 12 131093984 131093984 single base substitution G A intron_variant MELA-AU 12 131094000 131094000 single base substitution G A intron_variant MELA-AU 12 131094019 131094019 single base substitution G A intron_variant MELA-AU 12 131094049 131094049 single base substitution G A intron_variant MELA-AU 12 131094112 131094112 single base substitution C T intron_variant MELA-AU 12 131094311 131094311 single base substitution G A intron_variant MELA-AU 12 131094346 131094346 single base substitution G A intron_variant MELA-AU 12 131094407 131094407 single base substitution G A intron_variant MELA-AU 12 131094472 131094472 single base substitution C T intron_variant MELA-AU 12 131094619 131094619 single base substitution G A intron_variant MELA-AU 12 131094644 131094644 single base substitution G A intron_variant MELA-AU 12 131094752 131094752 single base substitution C T intron_variant MELA-AU 12 131094773 131094773 single base substitution G A intron_variant MELA-AU 12 131094781 131094781 single base substitution G A intron_variant MELA-AU 12 131094872 131094873 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 12 131094993 131094993 single base substitution C T intron_variant MELA-AU 12 131095077 131095077 single base substitution C T intron_variant MELA-AU 12 131095375 131095375 single base substitution G A intron_variant MELA-AU 12 131095410 131095410 single base substitution C T intron_variant MELA-AU 12 131095529 131095529 single base substitution C T intron_variant MELA-AU 12 131095601 131095601 single base substitution C T intron_variant MELA-AU 12 131095723 131095723 single base substitution C T intron_variant MELA-AU 12 131095747 131095747 single base substitution G A intron_variant MELA-AU 12 131095762 131095762 single base substitution C T intron_variant MELA-AU 12 131095802 131095802 single base substitution C T intron_variant MELA-AU 12 131095890 131095890 single base substitution C T intron_variant MELA-AU 12 131095897 131095897 single base substitution G A intron_variant MELA-AU 12 131096172 131096172 single base substitution C T intron_variant MELA-AU 12 131096186 131096186 single base substitution C T intron_variant MELA-AU 12 131096228 131096228 single base substitution C T intron_variant MELA-AU 12 131096240 131096240 single base substitution C T intron_variant MELA-AU 12 131096377 131096377 single base substitution G A intron_variant MELA-AU 12 131096468 131096468 single base substitution G A intron_variant MELA-AU 12 131096712 131096712 single base substitution G A intron_variant MELA-AU 12 131096818 131096818 single base substitution G A intron_variant MELA-AU 12 131097006 131097006 single base substitution G A intron_variant MELA-AU 12 131097211 131097211 single base substitution G A intron_variant MELA-AU 12 131097225 131097225 single base substitution G A intron_variant MELA-AU 12 131097302 131097302 single base substitution C T intron_variant MELA-AU 12 131097370 131097370 single base substitution G A intron_variant MELA-AU 12 131097472 131097472 single base substitution C T intron_variant MELA-AU 12 131097487 131097487 single base substitution G A intron_variant MELA-AU 12 131097604 131097604 single base substitution C T intron_variant MELA-AU 12 131097625 131097625 single base substitution G A intron_variant MELA-AU 12 131097843 131097843 single base substitution G A intron_variant MELA-AU 12 131097975 131097975 single base substitution C T intron_variant MELA-AU 12 131098031 131098031 single base substitution G A intron_variant MELA-AU 12 131098038 131098038 single base substitution C T intron_variant MELA-AU 12 131098162 131098162 single base substitution C T intron_variant MELA-AU 12 131098313 131098313 single base substitution C T intron_variant MELA-AU 12 131098330 131098330 single base substitution G A intron_variant MELA-AU 12 131098417 131098417 single base substitution C T intron_variant MELA-AU 12 131098433 131098433 single base substitution G A intron_variant MELA-AU 12 131098743 131098743 single base substitution C T intron_variant MELA-AU 12 131098768 131098768 single base substitution G T intron_variant MELA-AU 12 131099006 131099006 single base substitution G A intron_variant MELA-AU 12 131099204 131099204 single base substitution G A intron_variant MELA-AU 12 131099338 131099338 single base substitution G A intron_variant MELA-AU 12 131099517 131099517 single base substitution T C intron_variant MELA-AU 12 131099904 131099904 single base substitution G A intron_variant MELA-AU 12 131099966 131099966 single base substitution C T intron_variant MELA-AU 12 131100015 131100015 single base substitution C T intron_variant MELA-AU 12 131100076 131100076 single base substitution G A intron_variant MELA-AU 12 131100239 131100239 single base substitution G A intron_variant MELA-AU 12 131100241 131100241 single base substitution G A intron_variant MELA-AU 12 131100247 131100247 single base substitution G A intron_variant MELA-AU 12 131100281 131100281 single base substitution G A intron_variant MELA-AU 12 131100460 131100460 single base substitution G A intron_variant MELA-AU 12 131100492 131100492 single base substitution C T intron_variant MELA-AU 12 131100499 131100499 single base substitution C T intron_variant MELA-AU 12 131100696 131100696 single base substitution C T intron_variant MELA-AU 12 131100731 131100731 single base substitution C T intron_variant MELA-AU 12 131100842 131100842 single base substitution C T intron_variant MELA-AU 12 131100884 131100884 single base substitution C T intron_variant MELA-AU 12 131100902 131100902 single base substitution C T intron_variant MELA-AU 12 131100919 131100919 single base substitution C T intron_variant MELA-AU 12 131100981 131100981 single base substitution C T intron_variant MELA-AU 12 131101015 131101016 multiple base substitution (>=2bp and <=200bp) TT CA intron_variant MELA-AU 12 131101073 131101073 single base substitution C T intron_variant MELA-AU 12 131101079 131101079 single base substitution A G intron_variant MELA-AU 12 131101088 131101088 single base substitution G A intron_variant MELA-AU 12 131101122 131101122 single base substitution C T intron_variant MELA-AU 12 131101194 131101194 single base substitution G A intron_variant MELA-AU 12 131101207 131101207 single base substitution C T intron_variant MELA-AU 12 131101393 131101393 single base substitution G A intron_variant MELA-AU 12 131101415 131101415 single base substitution G A intron_variant MELA-AU 12 131101630 131101630 single base substitution C T intron_variant MELA-AU 12 131101655 131101655 single base substitution G A intron_variant MELA-AU 12 131101736 131101736 single base substitution C T intron_variant MELA-AU 12 131101772 131101772 single base substitution G A intron_variant MELA-AU 12 131101953 131101953 single base substitution C T intron_variant MELA-AU 12 131102201 131102201 single base substitution G A intron_variant MELA-AU 12 131102210 131102210 single base substitution C T intron_variant MELA-AU 12 131102395 131102395 single base substitution G A intron_variant MELA-AU 12 131102398 131102398 single base substitution G A intron_variant MELA-AU 12 131102973 131102973 single base substitution C T intron_variant MELA-AU 12 131102984 131102984 single base substitution C T intron_variant MELA-AU 12 131103010 131103010 single base substitution C T intron_variant MELA-AU 12 131103016 131103016 single base substitution C T intron_variant MELA-AU 12 131103042 131103042 single base substitution C T intron_variant MELA-AU 12 131103214 131103214 single base substitution G A intron_variant MELA-AU 12 131103344 131103344 single base substitution G A intron_variant MELA-AU 12 131103348 131103348 single base substitution G A intron_variant MELA-AU 12 131103365 131103365 single base substitution T A intron_variant MELA-AU 12 131103427 131103427 single base substitution A T intron_variant MELA-AU 12 131103650 131103650 single base substitution C T intron_variant MELA-AU 12 131103796 131103796 single base substitution C T intron_variant MELA-AU 12 131103833 131103833 single base substitution G A intron_variant MELA-AU 12 131103850 131103850 single base substitution G A intron_variant MELA-AU 12 131103918 131103918 single base substitution A T intron_variant MELA-AU 12 131103966 131103966 single base substitution G A intron_variant MELA-AU 12 131104133 131104133 single base substitution G A intron_variant MELA-AU 12 131104184 131104184 single base substitution C T intron_variant MELA-AU 12 131104215 131104215 single base substitution G A intron_variant MELA-AU 12 131104233 131104233 single base substitution G A intron_variant MELA-AU 12 131104451 131104451 single base substitution A G intron_variant MELA-AU 12 131104453 131104453 single base substitution A G intron_variant MELA-AU 12 131104619 131104619 single base substitution T C intron_variant MELA-AU 12 131104634 131104634 single base substitution G A intron_variant MELA-AU 12 131104818 131104818 single base substitution G A intron_variant MELA-AU 12 131104863 131104863 single base substitution G A intron_variant MELA-AU 12 131104885 131104885 single base substitution C T intron_variant MELA-AU 12 131105013 131105013 single base substitution C T intron_variant MELA-AU 12 131105196 131105196 single base substitution C T intron_variant MELA-AU 12 131105399 131105399 single base substitution C A intron_variant MELA-AU 12 131105445 131105445 single base substitution C T intron_variant MELA-AU 12 131105485 131105485 single base substitution C T intron_variant MELA-AU 12 131105520 131105520 single base substitution G A intron_variant MELA-AU 12 131105658 131105658 single base substitution G A intron_variant MELA-AU 12 131105668 131105668 single base substitution C T intron_variant MELA-AU 12 131105756 131105756 single base substitution G A intron_variant MELA-AU 12 131105792 131105792 single base substitution G A intron_variant MELA-AU 12 131105903 131105903 single base substitution C T intron_variant MELA-AU 12 131105920 131105920 single base substitution G A intron_variant MELA-AU 12 131105957 131105957 single base substitution G A intron_variant MELA-AU 12 131105988 131105988 single base substitution C T intron_variant MELA-AU 12 131106004 131106004 single base substitution C T intron_variant MELA-AU 12 131106092 131106092 single base substitution G A intron_variant MELA-AU 12 131106163 131106163 single base substitution C A intron_variant MELA-AU 12 131106174 131106174 single base substitution C T intron_variant MELA-AU 12 131106249 131106249 single base substitution G A intron_variant MELA-AU 12 131106254 131106254 single base substitution G A intron_variant MELA-AU 12 131106263 131106263 single base substitution G A intron_variant MELA-AU 12 131106395 131106395 single base substitution C T intron_variant MELA-AU 12 131106575 131106575 single base substitution G A intron_variant MELA-AU 12 131106709 131106709 single base substitution G A intron_variant MELA-AU 12 131106720 131106720 single base substitution C T intron_variant MELA-AU 12 131106741 131106741 single base substitution C T intron_variant MELA-AU 12 131107013 131107013 single base substitution C T intron_variant MELA-AU 12 131107189 131107189 single base substitution C T intron_variant MELA-AU 12 131107208 131107208 single base substitution C T intron_variant MELA-AU 12 131107285 131107285 single base substitution G A intron_variant MELA-AU 12 131107376 131107376 single base substitution C T intron_variant MELA-AU 12 131107380 131107380 single base substitution C T intron_variant MELA-AU 12 131107498 131107498 single base substitution G A intron_variant MELA-AU 12 131107510 131107510 single base substitution A G intron_variant MELA-AU 12 131107522 131107522 single base substitution G A intron_variant MELA-AU 12 131107962 131107962 single base substitution A C intron_variant MELA-AU 12 131107998 131107998 single base substitution G A intron_variant MELA-AU 12 131108064 131108065 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 131108392 131108392 single base substitution C T intron_variant MELA-AU 12 131108514 131108514 single base substitution C T intron_variant MELA-AU 12 131108689 131108689 single base substitution G A intron_variant MELA-AU 12 131108713 131108713 single base substitution G A intron_variant MELA-AU 12 131108847 131108847 single base substitution G A intron_variant MELA-AU 12 131108909 131108909 deletion of <=200bp T - intron_variant MELA-AU 12 131109093 131109093 single base substitution G A intron_variant MELA-AU 12 131109394 131109394 single base substitution C T intron_variant MELA-AU 12 131109396 131109396 single base substitution A C intron_variant MELA-AU 12 131109611 131109611 single base substitution T A intron_variant MELA-AU 12 131109619 131109619 single base substitution G A intron_variant MELA-AU 12 131109930 131109930 single base substitution G A intron_variant MELA-AU 12 131110035 131110035 single base substitution C T intron_variant MELA-AU 12 131110067 131110067 single base substitution G A intron_variant MELA-AU 12 131110128 131110128 single base substitution G A intron_variant MELA-AU 12 131110547 131110547 single base substitution T A intron_variant MELA-AU 12 131110696 131110696 single base substitution G A intron_variant MELA-AU 12 131110794 131110794 single base substitution G A intron_variant MELA-AU 12 131110810 131110810 single base substitution T A intron_variant MELA-AU 12 131110965 131110965 single base substitution C T intron_variant MELA-AU 12 131111040 131111040 single base substitution C T intron_variant MELA-AU 12 131111058 131111058 single base substitution C T intron_variant MELA-AU 12 131111076 131111076 single base substitution C T intron_variant MELA-AU 12 131111446 131111446 single base substitution C T intron_variant MELA-AU 12 131111557 131111557 single base substitution C T intron_variant MELA-AU 12 131111641 131111641 single base substitution C T intron_variant MELA-AU 12 131111677 131111677 single base substitution C T intron_variant MELA-AU 12 131111879 131111879 single base substitution C T intron_variant MELA-AU 12 131111932 131111932 single base substitution C T intron_variant MELA-AU 12 131111940 131111940 single base substitution G A intron_variant MELA-AU 12 131111985 131111985 single base substitution G A intron_variant MELA-AU 12 131112036 131112036 single base substitution C T intron_variant MELA-AU 12 131112336 131112336 single base substitution C T intron_variant MELA-AU 12 131112577 131112577 single base substitution G A intron_variant MELA-AU 12 131112583 131112583 single base substitution C T intron_variant MELA-AU 12 131112627 131112627 single base substitution C T intron_variant MELA-AU 12 131112755 131112755 single base substitution G A intron_variant MELA-AU 12 131112765 131112765 single base substitution G A intron_variant MELA-AU 12 131112912 131112912 single base substitution G A 5_prime_UTR_variant MELA-AU 12 131112949 131112949 single base substitution T G 5_prime_UTR_variant MELA-AU 12 131113008 131113008 single base substitution G A splice_region_variant MELA-AU 12 131113055 131113055 single base substitution T C intron_variant MELA-AU 12 131113108 131113108 single base substitution G A intron_variant MELA-AU 12 131113222 131113222 single base substitution C T intron_variant MELA-AU 12 131113301 131113301 single base substitution C T intron_variant MELA-AU 12 131113446 131113446 single base substitution G A intron_variant MELA-AU 12 131113663 131113663 single base substitution A T intron_variant MELA-AU 12 131113757 131113757 single base substitution G A intron_variant MELA-AU 12 131113766 131113766 single base substitution G A intron_variant MELA-AU 12 131113827 131113827 single base substitution G A intron_variant MELA-AU 12 131113946 131113946 single base substitution G T intron_variant MELA-AU 12 131113947 131113947 single base substitution G A intron_variant MELA-AU 12 131114028 131114028 single base substitution G A intron_variant MELA-AU 12 131114029 131114029 single base substitution G A intron_variant MELA-AU 12 131114179 131114179 single base substitution C T intron_variant MELA-AU 12 131114248 131114248 single base substitution G A intron_variant MELA-AU 12 131114249 131114249 single base substitution G A intron_variant MELA-AU 12 131114263 131114263 single base substitution G A intron_variant MELA-AU 12 131114922 131114922 single base substitution G A intron_variant MELA-AU 12 131114963 131114963 single base substitution C T intron_variant MELA-AU 12 131115205 131115205 single base substitution G A intron_variant MELA-AU 12 131115346 131115346 single base substitution C T intron_variant MELA-AU 12 131115398 131115398 single base substitution G A intron_variant MELA-AU 12 131115422 131115422 single base substitution A T intron_variant MELA-AU 12 131115460 131115461 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 12 131115472 131115472 single base substitution G A intron_variant MELA-AU 12 131115602 131115602 single base substitution C T intron_variant MELA-AU 12 131115909 131115909 single base substitution G A intron_variant MELA-AU 12 131115917 131115917 single base substitution G A intron_variant MELA-AU 12 131115943 131115943 single base substitution C T intron_variant MELA-AU 12 131116001 131116001 single base substitution C T intron_variant MELA-AU 12 131116002 131116002 single base substitution C T intron_variant MELA-AU 12 131116045 131116045 single base substitution C T intron_variant MELA-AU 12 131116547 131116547 single base substitution C T intron_variant MELA-AU 12 131116659 131116659 single base substitution G A intron_variant MELA-AU 12 131116688 131116688 single base substitution C T intron_variant MELA-AU 12 131116787 131116787 single base substitution C T intron_variant MELA-AU 12 131117285 131117285 single base substitution C T intron_variant MELA-AU 12 131117497 131117497 single base substitution C G intron_variant MELA-AU 12 131117533 131117533 single base substitution C T intron_variant MELA-AU 12 131117652 131117652 single base substitution C T intron_variant MELA-AU 12 131117846 131117846 single base substitution C T intron_variant MELA-AU 12 131117928 131117928 single base substitution C T intron_variant MELA-AU 12 131118320 131118320 single base substitution C T intron_variant MELA-AU 12 131118611 131118611 single base substitution G A intron_variant MELA-AU 12 131118691 131118691 single base substitution C T intron_variant MELA-AU 12 131119033 131119033 single base substitution G A intron_variant MELA-AU 12 131119042 131119042 single base substitution T C intron_variant MELA-AU 12 131119449 131119449 single base substitution C T intron_variant MELA-AU 12 131119588 131119588 single base substitution C A intron_variant MELA-AU 12 131119596 131119596 single base substitution C T intron_variant MELA-AU 12 131119618 131119618 single base substitution G A intron_variant MELA-AU 12 131119721 131119721 single base substitution C T intron_variant MELA-AU 12 131119806 131119806 single base substitution C T intron_variant MELA-AU 12 131119810 131119810 single base substitution C T intron_variant MELA-AU 12 131119811 131119811 single base substitution C T intron_variant MELA-AU 12 131119812 131119812 single base substitution C T intron_variant MELA-AU 12 131119831 131119831 single base substitution G A intron_variant MELA-AU 12 131119889 131119889 single base substitution G A intron_variant MELA-AU 12 131120070 131120070 single base substitution C T intron_variant MELA-AU 12 131120082 131120082 single base substitution C T intron_variant MELA-AU 12 131120264 131120264 single base substitution C T intron_variant MELA-AU 12 131120289 131120289 single base substitution G A intron_variant MELA-AU 12 131120329 131120329 single base substitution G A intron_variant MELA-AU 12 131120362 131120362 single base substitution C T intron_variant MELA-AU 12 131120379 131120379 single base substitution C T intron_variant MELA-AU 12 131120492 131120492 single base substitution G A intron_variant MELA-AU 12 131120528 131120528 single base substitution C T intron_variant MELA-AU 12 131121089 131121089 single base substitution G A intron_variant MELA-AU 12 131121173 131121173 single base substitution G A intron_variant MELA-AU 12 131121180 131121180 single base substitution G A intron_variant MELA-AU 12 131121234 131121234 single base substitution T C intron_variant MELA-AU 12 131121258 131121258 single base substitution G A intron_variant MELA-AU 12 131121409 131121409 single base substitution C T intron_variant MELA-AU 12 131121499 131121499 single base substitution G A intron_variant MELA-AU 12 131121784 131121784 single base substitution C T intron_variant MELA-AU 12 131121852 131121852 single base substitution C T intron_variant MELA-AU 12 131121870 131121870 single base substitution C T intron_variant MELA-AU 12 131121974 131121974 single base substitution C T intron_variant MELA-AU 12 131122097 131122097 single base substitution G A intron_variant MELA-AU 12 131122105 131122105 single base substitution C T intron_variant MELA-AU 12 131122298 131122298 single base substitution C T intron_variant MELA-AU 12 131122376 131122376 single base substitution G A intron_variant MELA-AU 12 131122404 131122404 single base substitution G A intron_variant MELA-AU 12 131122494 131122494 single base substitution G A intron_variant MELA-AU 12 131122532 131122532 single base substitution G A intron_variant MELA-AU 12 131122692 131122692 single base substitution C T intron_variant MELA-AU 12 131122731 131122731 single base substitution G A intron_variant MELA-AU 12 131122753 131122753 single base substitution A C intron_variant MELA-AU 12 131122899 131122899 single base substitution C T intron_variant MELA-AU 12 131122958 131122958 single base substitution G A intron_variant MELA-AU 12 131123008 131123008 single base substitution G A intron_variant MELA-AU 12 131123205 131123205 single base substitution C T intron_variant MELA-AU 12 131123306 131123306 single base substitution C T intron_variant MELA-AU 12 131123616 131123616 single base substitution C T intron_variant MELA-AU 12 131123730 131123730 single base substitution C T intron_variant MELA-AU 12 131123818 131123818 single base substitution C T intron_variant MELA-AU 12 131123848 131123848 single base substitution C T intron_variant MELA-AU 12 131123978 131123978 single base substitution C T intron_variant MELA-AU 12 131124082 131124082 single base substitution C T intron_variant MELA-AU 12 131124108 131124108 single base substitution C T intron_variant MELA-AU 12 131124123 131124123 single base substitution T A intron_variant MELA-AU 12 131124476 131124476 single base substitution C T intron_variant MELA-AU 12 131124652 131124652 single base substitution G A intron_variant MELA-AU 12 131124663 131124663 single base substitution C T intron_variant MELA-AU 12 131124838 131124838 single base substitution C T intron_variant MELA-AU 12 131124860 131124860 single base substitution G A intron_variant MELA-AU 12 131124980 131124980 single base substitution C T intron_variant MELA-AU 12 131125023 131125023 single base substitution C T intron_variant MELA-AU 12 131125134 131125134 single base substitution G A intron_variant MELA-AU 12 131125378 131125378 single base substitution C T intron_variant MELA-AU 12 131125431 131125431 single base substitution G A intron_variant MELA-AU 12 131125457 131125457 single base substitution G A intron_variant MELA-AU 12 131125515 131125515 single base substitution G A intron_variant MELA-AU 12 131125529 131125530 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 131125757 131125757 single base substitution C T intron_variant MELA-AU 12 131125913 131125913 single base substitution T A intron_variant MELA-AU 12 131126018 131126018 single base substitution G A intron_variant MELA-AU 12 131126076 131126076 single base substitution G A intron_variant MELA-AU 12 131126164 131126164 single base substitution C T intron_variant MELA-AU 12 131126520 131126520 single base substitution G A intron_variant MELA-AU 12 131126648 131126648 single base substitution C T intron_variant MELA-AU 12 131126730 131126730 single base substitution G A intron_variant MELA-AU 12 131126730 131126730 single base substitution G C intron_variant MELA-AU 12 131126751 131126751 single base substitution G A intron_variant MELA-AU 12 131126782 131126782 single base substitution G A intron_variant MELA-AU 12 131126852 131126852 single base substitution G A intron_variant MELA-AU 12 131126868 131126868 single base substitution C T intron_variant MELA-AU 12 131126893 131126893 single base substitution G A intron_variant MELA-AU 12 131126924 131126924 single base substitution G A intron_variant MELA-AU 12 131127506 131127506 single base substitution C T intron_variant MELA-AU 12 131127519 131127519 single base substitution G A intron_variant MELA-AU 12 131127524 131127524 single base substitution T C intron_variant MELA-AU 12 131127577 131127577 single base substitution C T intron_variant MELA-AU 12 131127764 131127764 single base substitution G A intron_variant MELA-AU 12 131127794 131127794 single base substitution C T intron_variant MELA-AU 12 131127829 131127829 single base substitution C T intron_variant MELA-AU 12 131127916 131127916 single base substitution G A intron_variant MELA-AU 12 131127944 131127944 single base substitution C T intron_variant MELA-AU 12 131127949 131127949 single base substitution G A intron_variant MELA-AU 12 131128020 131128021 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 131128109 131128109 single base substitution C T intron_variant MELA-AU 12 131128120 131128120 single base substitution G A intron_variant MELA-AU 12 131128283 131128283 single base substitution G A intron_variant MELA-AU 12 131128309 131128309 single base substitution G A intron_variant MELA-AU 12 131128436 131128436 single base substitution G A intron_variant MELA-AU 12 131128465 131128465 single base substitution C T intron_variant MELA-AU 12 131128471 131128471 single base substitution G A intron_variant MELA-AU 12 131128585 131128585 single base substitution G A intron_variant MELA-AU 12 131128605 131128605 single base substitution A C intron_variant MELA-AU 12 131128611 131128611 single base substitution C T intron_variant MELA-AU 12 131129073 131129073 single base substitution C T intron_variant MELA-AU 12 131129436 131129436 single base substitution C T intron_variant MELA-AU 12 131129729 131129729 single base substitution C T intron_variant MELA-AU 12 131129731 131129731 single base substitution C A intron_variant MELA-AU 12 131129992 131129992 single base substitution C T intron_variant MELA-AU 12 131129997 131129997 single base substitution C T intron_variant MELA-AU 12 131130171 131130171 single base substitution C T intron_variant MELA-AU 12 131130223 131130223 single base substitution G A intron_variant MELA-AU 12 131130290 131130290 single base substitution C T intron_variant MELA-AU 12 131130566 131130566 single base substitution C T intron_variant MELA-AU 12 131131022 131131022 single base substitution C T intron_variant MELA-AU 12 131131078 131131078 single base substitution C T intron_variant MELA-AU 12 131131215 131131215 single base substitution A G intron_variant MELA-AU 12 131131255 131131255 single base substitution G A intron_variant MELA-AU 12 131131264 131131264 single base substitution C T intron_variant MELA-AU 12 131131278 131131278 single base substitution C T intron_variant MELA-AU 12 131131361 131131361 single base substitution G A intron_variant MELA-AU 12 131131409 131131409 single base substitution C T intron_variant MELA-AU 12 131131612 131131612 single base substitution G A intron_variant MELA-AU 12 131131862 131131862 single base substitution C T intron_variant MELA-AU 12 131132376 131132376 single base substitution G A intron_variant MELA-AU 12 131132843 131132843 single base substitution T C intron_variant MELA-AU 12 131132888 131132888 single base substitution C T intron_variant MELA-AU 12 131132988 131132988 single base substitution C T intron_variant MELA-AU 12 131132998 131132998 single base substitution C T intron_variant MELA-AU 12 131133110 131133110 single base substitution T C intron_variant MELA-AU 12 131133465 131133465 single base substitution T C intron_variant MELA-AU 12 131133499 131133499 single base substitution G A intron_variant MELA-AU 12 131133652 131133652 single base substitution G A intron_variant MELA-AU 12 131133656 131133656 single base substitution C T intron_variant MELA-AU 12 131133662 131133662 single base substitution G A intron_variant MELA-AU 12 131133673 131133673 single base substitution G A intron_variant MELA-AU 12 131133824 131133824 single base substitution C T intron_variant MELA-AU 12 131133856 131133857 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 131133865 131133865 single base substitution T A intron_variant MELA-AU 12 131133995 131133995 single base substitution C T intron_variant MELA-AU 12 131134015 131134015 single base substitution A G intron_variant MELA-AU 12 131134082 131134082 single base substitution C T intron_variant MELA-AU 12 131134106 131134106 single base substitution G A intron_variant MELA-AU 12 131134139 131134139 single base substitution C T intron_variant MELA-AU 12 131134220 131134220 single base substitution G A intron_variant MELA-AU 12 131134289 131134289 single base substitution C T intron_variant MELA-AU 12 131134298 131134298 single base substitution C T intron_variant MELA-AU 12 131134434 131134434 single base substitution G A intron_variant MELA-AU 12 131134438 131134438 single base substitution C G intron_variant MELA-AU 12 131134528 131134528 single base substitution G A intron_variant MELA-AU 12 131134629 131134629 single base substitution G A intron_variant MELA-AU 12 131134661 131134661 single base substitution G A intron_variant MELA-AU 12 131134850 131134850 single base substitution A G intron_variant MELA-AU 12 131135172 131135172 single base substitution G A intron_variant MELA-AU 12 131135665 131135665 single base substitution A G intron_variant MELA-AU 12 131135923 131135923 single base substitution C T intron_variant MELA-AU 12 131136013 131136014 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 131136236 131136236 single base substitution C T intron_variant MELA-AU 12 131136297 131136297 single base substitution C T intron_variant MELA-AU 12 131136398 131136398 single base substitution C T intron_variant MELA-AU 12 131136485 131136485 single base substitution G A intron_variant MELA-AU 12 131136566 131136566 single base substitution C T intron_variant MELA-AU 12 131136662 131136662 single base substitution G A intron_variant MELA-AU 12 131136674 131136674 single base substitution A T intron_variant MELA-AU 12 131136683 131136683 single base substitution C T intron_variant MELA-AU 12 131136837 131136837 single base substitution G A intron_variant MELA-AU 12 131137098 131137098 single base substitution C T intron_variant MELA-AU 12 131137168 131137168 single base substitution C T intron_variant MELA-AU 12 131137204 131137204 single base substitution C T intron_variant MELA-AU 12 131137250 131137250 single base substitution G A intron_variant MELA-AU 12 131137355 131137355 single base substitution G A intron_variant MELA-AU 12 131137612 131137612 single base substitution C T intron_variant MELA-AU 12 131137776 131137776 single base substitution C T intron_variant MELA-AU 12 131137780 131137780 single base substitution T C intron_variant MELA-AU 12 131137857 131137857 single base substitution G A intron_variant MELA-AU 12 131138561 131138561 single base substitution G A intron_variant MELA-AU 12 131138572 131138572 single base substitution C T intron_variant MELA-AU 12 131138602 131138602 single base substitution C T intron_variant MELA-AU 12 131138709 131138709 single base substitution T A intron_variant MELA-AU 12 131138751 131138751 single base substitution C T intron_variant MELA-AU 12 131138817 131138817 single base substitution C T intron_variant MELA-AU 12 131138968 131138968 single base substitution C T intron_variant MELA-AU 12 131139007 131139007 single base substitution G A intron_variant MELA-AU 12 131139108 131139108 single base substitution C T intron_variant MELA-AU 12 131139175 131139175 single base substitution T A intron_variant MELA-AU 12 131139269 131139269 single base substitution G A intron_variant MELA-AU 12 131139355 131139355 single base substitution G A intron_variant MELA-AU 12 131139367 131139367 single base substitution C T intron_variant MELA-AU 12 131139387 131139387 single base substitution A T intron_variant MELA-AU 12 131139428 131139428 single base substitution G A intron_variant MELA-AU 12 131139528 131139528 single base substitution G A intron_variant MELA-AU 12 131139545 131139545 single base substitution C T intron_variant MELA-AU 12 131139592 131139592 single base substitution C T intron_variant MELA-AU 12 131139658 131139658 single base substitution A T intron_variant MELA-AU 12 131139773 131139773 single base substitution C T intron_variant MELA-AU 12 131140097 131140097 single base substitution G A intron_variant MELA-AU 12 131140198 131140198 single base substitution G A intron_variant MELA-AU 12 131140311 131140311 single base substitution G A intron_variant MELA-AU 12 131140412 131140412 single base substitution G A intron_variant MELA-AU 12 131140748 131140748 single base substitution C T intron_variant MELA-AU 12 131140764 131140764 single base substitution G A intron_variant MELA-AU 12 131140879 131140879 single base substitution G A intron_variant MELA-AU 12 131141038 131141038 single base substitution C T intron_variant MELA-AU 12 131141441 131141441 single base substitution G A intron_variant MELA-AU 12 131141574 131141574 single base substitution G A intron_variant MELA-AU 12 131141710 131141710 single base substitution G C intron_variant MELA-AU 12 131141747 131141747 single base substitution C T intron_variant MELA-AU 12 131141776 131141776 single base substitution G A intron_variant MELA-AU 12 131141946 131141946 single base substitution C T intron_variant MELA-AU 12 131142002 131142002 single base substitution A T intron_variant MELA-AU 12 131142556 131142556 single base substitution T C intron_variant MELA-AU 12 131142605 131142605 single base substitution C T intron_variant MELA-AU 12 131142717 131142717 single base substitution G A intron_variant MELA-AU 12 131142865 131142865 single base substitution A G intron_variant MELA-AU 12 131142886 131142886 single base substitution C T intron_variant MELA-AU 12 131143080 131143080 single base substitution C T intron_variant MELA-AU 12 131143259 131143261 deletion of <=200bp CCG - intron_variant MELA-AU 12 131143271 131143271 single base substitution C T intron_variant MELA-AU 12 131143323 131143323 single base substitution C T intron_variant MELA-AU 12 131143438 131143438 single base substitution C T intron_variant MELA-AU 12 131143491 131143491 single base substitution C T intron_variant MELA-AU 12 131143522 131143522 single base substitution C T intron_variant MELA-AU 12 131143612 131143612 single base substitution G A intron_variant MELA-AU 12 131143680 131143680 single base substitution C T intron_variant MELA-AU 12 131143785 131143785 single base substitution C T intron_variant MELA-AU 12 131143907 131143907 single base substitution G A intron_variant MELA-AU 12 131143915 131143915 single base substitution G A intron_variant MELA-AU 12 131143933 131143933 single base substitution G A intron_variant MELA-AU 12 131143946 131143946 single base substitution C T intron_variant MELA-AU 12 131144009 131144009 single base substitution G A intron_variant MELA-AU 12 131144093 131144093 single base substitution G A intron_variant MELA-AU 12 131144317 131144317 single base substitution A G intron_variant MELA-AU 12 131144402 131144402 single base substitution C T intron_variant MELA-AU 12 131144416 131144416 single base substitution G A intron_variant MELA-AU 12 131144768 131144768 single base substitution A G intron_variant MELA-AU 12 131144856 131144856 single base substitution C T intron_variant MELA-AU 12 131144888 131144888 single base substitution C T intron_variant MELA-AU 12 131145026 131145026 single base substitution G A intron_variant MELA-AU 12 131145094 131145094 single base substitution T C intron_variant MELA-AU 12 131145134 131145134 single base substitution C A intron_variant MELA-AU 12 131145144 131145144 single base substitution G A intron_variant MELA-AU 12 131145180 131145180 single base substitution C T intron_variant MELA-AU 12 131145189 131145189 single base substitution G A intron_variant MELA-AU 12 131145228 131145228 single base substitution C T intron_variant MELA-AU 12 131145275 131145275 single base substitution C T intron_variant MELA-AU 12 131145371 131145371 single base substitution C T intron_variant MELA-AU 12 131145405 131145405 single base substitution T G intron_variant MELA-AU 12 131145427 131145427 single base substitution G A intron_variant MELA-AU 12 131145786 131145786 single base substitution C T intron_variant MELA-AU 12 131145805 131145805 single base substitution C T intron_variant MELA-AU 12 131145953 131145953 single base substitution C T intron_variant MELA-AU 12 131146231 131146231 single base substitution C T intron_variant MELA-AU 12 131146259 131146259 single base substitution C T intron_variant MELA-AU 12 131146301 131146301 single base substitution G C intron_variant MELA-AU 12 131146566 131146566 single base substitution G A intron_variant MELA-AU 12 131146671 131146671 single base substitution T C intron_variant MELA-AU 12 131146704 131146704 single base substitution A C intron_variant MELA-AU 12 131146839 131146839 single base substitution C T intron_variant MELA-AU 12 131146866 131146866 single base substitution C T intron_variant MELA-AU 12 131147047 131147047 deletion of <=200bp A - intron_variant MELA-AU 12 131147248 131147248 single base substitution C T intron_variant MELA-AU 12 131147268 131147268 single base substitution A C intron_variant MELA-AU 12 131147815 131147815 single base substitution G A intron_variant MELA-AU 12 131147816 131147816 single base substitution A G intron_variant MELA-AU 12 131148148 131148148 single base substitution G A intron_variant MELA-AU 12 131148204 131148204 single base substitution C T intron_variant MELA-AU 12 131148322 131148322 single base substitution C T intron_variant MELA-AU 12 131148466 131148466 single base substitution G A intron_variant MELA-AU 12 131148520 131148520 single base substitution G A intron_variant MELA-AU 12 131148715 131148715 single base substitution C T intron_variant MELA-AU 12 131149122 131149122 single base substitution T C intron_variant MELA-AU 12 131149130 131149130 single base substitution A C intron_variant MELA-AU 12 131149160 131149160 single base substitution C T intron_variant MELA-AU 12 131149354 131149354 single base substitution G A intron_variant MELA-AU 12 131149378 131149378 single base substitution C T intron_variant MELA-AU 12 131149421 131149421 single base substitution G A intron_variant MELA-AU 12 131149456 131149456 single base substitution G A intron_variant MELA-AU 12 131149602 131149602 single base substitution C T intron_variant MELA-AU 12 131149877 131149877 single base substitution C T intron_variant MELA-AU 12 131149964 131149964 single base substitution G A intron_variant MELA-AU 12 131150078 131150078 single base substitution G A intron_variant MELA-AU 12 131150213 131150213 single base substitution G A intron_variant MELA-AU 12 131150251 131150251 single base substitution C T intron_variant MELA-AU 12 131150322 131150322 single base substitution G A intron_variant MELA-AU 12 131150497 131150497 single base substitution C T intron_variant MELA-AU 12 131150706 131150706 single base substitution C T intron_variant MELA-AU 12 131150798 131150798 single base substitution G A intron_variant MELA-AU 12 131150848 131150848 single base substitution C T intron_variant MELA-AU 12 131150944 131150944 single base substitution C T intron_variant MELA-AU 12 131150964 131150964 single base substitution T C intron_variant MELA-AU 12 131151076 131151076 single base substitution C T intron_variant MELA-AU 12 131151102 131151102 single base substitution C T intron_variant MELA-AU 12 131151117 131151117 single base substitution G A intron_variant MELA-AU 12 131151200 131151200 single base substitution G A intron_variant MELA-AU 12 131151216 131151216 single base substitution G A intron_variant MELA-AU 12 131151222 131151222 single base substitution G A intron_variant MELA-AU 12 131151233 131151234 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 131151273 131151273 single base substitution G A intron_variant MELA-AU 12 131151283 131151283 single base substitution G A intron_variant MELA-AU 12 131151332 131151332 single base substitution G A intron_variant MELA-AU 12 131151427 131151427 single base substitution G A intron_variant MELA-AU 12 131151479 131151479 single base substitution G A intron_variant MELA-AU 12 131151656 131151656 single base substitution G A intron_variant MELA-AU 12 131151720 131151720 single base substitution G A intron_variant MELA-AU 12 131151744 131151744 single base substitution G A intron_variant MELA-AU 12 131151764 131151764 single base substitution G A intron_variant MELA-AU 12 131151910 131151910 single base substitution A G intron_variant MELA-AU 12 131152249 131152249 single base substitution G A intron_variant MELA-AU 12 131152270 131152270 single base substitution G A intron_variant MELA-AU 12 131152284 131152284 single base substitution G A intron_variant MELA-AU 12 131152289 131152290 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 131152337 131152337 single base substitution G A intron_variant MELA-AU 12 131152398 131152398 single base substitution G A intron_variant MELA-AU 12 131152404 131152404 single base substitution G A intron_variant MELA-AU 12 131152484 131152484 single base substitution C T intron_variant MELA-AU 12 131152543 131152543 single base substitution G A intron_variant MELA-AU 12 131152544 131152544 single base substitution G A intron_variant MELA-AU 12 131152561 131152561 single base substitution G A intron_variant MELA-AU 12 131152631 131152631 single base substitution C T intron_variant MELA-AU 12 131152632 131152632 single base substitution C T intron_variant MELA-AU 12 131152684 131152684 single base substitution C T intron_variant MELA-AU 12 131152833 131152833 single base substitution G A intron_variant MELA-AU 12 131152884 131152884 single base substitution C T intron_variant MELA-AU 12 131152930 131152930 single base substitution G A intron_variant MELA-AU 12 131153026 131153026 single base substitution G A intron_variant MELA-AU 12 131153063 131153063 single base substitution C T intron_variant MELA-AU 12 131153130 131153130 single base substitution G T intron_variant MELA-AU 12 131153265 131153265 single base substitution C T intron_variant MELA-AU 12 131153419 131153419 single base substitution C A intron_variant MELA-AU 12 131153526 131153526 single base substitution G A intron_variant MELA-AU 12 131153680 131153680 single base substitution G A intron_variant MELA-AU 12 131153948 131153948 single base substitution C T intron_variant MELA-AU 12 131153974 131153974 single base substitution G A intron_variant MELA-AU 12 131154012 131154012 single base substitution C T intron_variant MELA-AU 12 131154013 131154013 single base substitution C T intron_variant MELA-AU 12 131154025 131154025 single base substitution C T intron_variant MELA-AU 12 131154037 131154037 single base substitution G A intron_variant MELA-AU 12 131154048 131154048 single base substitution G A intron_variant MELA-AU 12 131154068 131154068 single base substitution G A intron_variant MELA-AU 12 131154104 131154104 single base substitution C T intron_variant MELA-AU 12 131154190 131154190 single base substitution G A intron_variant MELA-AU 12 131154233 131154233 single base substitution G A intron_variant MELA-AU 12 131154267 131154267 single base substitution G A intron_variant MELA-AU 12 131154292 131154292 single base substitution C T intron_variant MELA-AU 12 131154305 131154305 single base substitution C T intron_variant MELA-AU 12 131154507 131154507 single base substitution G A intron_variant MELA-AU 12 131154668 131154669 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 131154728 131154728 single base substitution G A intron_variant MELA-AU 12 131154740 131154740 single base substitution C T intron_variant MELA-AU 12 131154758 131154758 single base substitution G A intron_variant MELA-AU 12 131155263 131155263 single base substitution C T intron_variant MELA-AU 12 131155428 131155428 single base substitution C T intron_variant MELA-AU 12 131155670 131155670 single base substitution T A intron_variant MELA-AU 12 131155672 131155672 single base substitution C T intron_variant MELA-AU 12 131155702 131155702 single base substitution G A intron_variant MELA-AU 12 131155752 131155752 single base substitution C T intron_variant MELA-AU 12 131155900 131155900 single base substitution C T intron_variant MELA-AU 12 131155926 131155926 single base substitution C T intron_variant MELA-AU 12 131156046 131156046 single base substitution C T intron_variant MELA-AU 12 131156197 131156197 single base substitution G A intron_variant MELA-AU 12 131156463 131156463 single base substitution C T intron_variant MELA-AU 12 131156612 131156612 single base substitution C T intron_variant MELA-AU 12 131156667 131156667 single base substitution G A intron_variant MELA-AU 12 131156767 131156767 single base substitution G A intron_variant MELA-AU 12 131156799 131156799 single base substitution T C intron_variant MELA-AU 12 131156830 131156830 single base substitution A G intron_variant MELA-AU 12 131156832 131156832 single base substitution G A intron_variant MELA-AU 12 131157063 131157063 single base substitution C T intron_variant MELA-AU 12 131157556 131157556 single base substitution G A intron_variant MELA-AU 12 131157697 131157697 single base substitution A G intron_variant MELA-AU 12 131157751 131157751 single base substitution G A intron_variant MELA-AU 12 131158144 131158144 single base substitution G A intron_variant MELA-AU 12 131158147 131158147 single base substitution C T intron_variant MELA-AU 12 131158247 131158247 single base substitution C T intron_variant MELA-AU 12 131158298 131158298 single base substitution G A intron_variant MELA-AU 12 131158433 131158433 single base substitution C T intron_variant MELA-AU 12 131158473 131158473 single base substitution G A intron_variant MELA-AU 12 131158584 131158584 single base substitution A G intron_variant MELA-AU 12 131158747 131158747 single base substitution C T intron_variant MELA-AU 12 131158810 131158810 single base substitution G A intron_variant MELA-AU 12 131158861 131158861 single base substitution G A intron_variant MELA-AU 12 131158868 131158868 single base substitution G A intron_variant MELA-AU 12 131158999 131158999 single base substitution G A intron_variant MELA-AU 12 131159000 131159000 single base substitution G A intron_variant MELA-AU 12 131159067 131159067 single base substitution G A intron_variant MELA-AU 12 131159141 131159141 single base substitution G A intron_variant MELA-AU 12 131159281 131159281 single base substitution G A intron_variant MELA-AU 12 131159338 131159338 single base substitution C T intron_variant MELA-AU 12 131159386 131159386 single base substitution C T intron_variant MELA-AU 12 131159488 131159488 single base substitution T A intron_variant MELA-AU 12 131159516 131159516 single base substitution C T intron_variant MELA-AU 12 131159659 131159659 single base substitution G T intron_variant MELA-AU 12 131159860 131159860 single base substitution C T intron_variant MELA-AU 12 131160168 131160168 single base substitution C T intron_variant MELA-AU 12 131160284 131160284 single base substitution C T intron_variant MELA-AU 12 131160403 131160403 single base substitution G A intron_variant MELA-AU 12 131160448 131160448 single base substitution C T intron_variant MELA-AU 12 131160455 131160455 single base substitution G A intron_variant MELA-AU 12 131160677 131160677 single base substitution G A intron_variant MELA-AU 12 131160747 131160747 single base substitution G A intron_variant MELA-AU 12 131160810 131160810 single base substitution T C intron_variant MELA-AU 12 131160971 131160971 single base substitution C A intron_variant MELA-AU 12 131161042 131161042 single base substitution C T intron_variant MELA-AU 12 131161256 131161256 single base substitution C T intron_variant MELA-AU 12 131161312 131161312 single base substitution C T intron_variant MELA-AU 12 131161351 131161351 single base substitution C T intron_variant MELA-AU 12 131161714 131161714 single base substitution G A intron_variant MELA-AU 12 131161775 131161775 single base substitution G A intron_variant MELA-AU 12 131161802 131161802 single base substitution C T intron_variant MELA-AU 12 131161921 131161921 single base substitution C T intron_variant MELA-AU 12 131161999 131162000 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 131162199 131162199 single base substitution C T intron_variant MELA-AU 12 131162488 131162488 single base substitution C T intron_variant MELA-AU 12 131162502 131162502 single base substitution C T intron_variant MELA-AU 12 131162642 131162642 single base substitution C T intron_variant MELA-AU 12 131162649 131162649 single base substitution G A intron_variant MELA-AU 12 131162820 131162820 single base substitution G A intron_variant MELA-AU 12 131162873 131162873 single base substitution G A intron_variant MELA-AU 12 131162943 131162943 single base substitution G A intron_variant MELA-AU 12 131163282 131163282 single base substitution C T intron_variant MELA-AU 12 131163334 131163334 single base substitution G A intron_variant MELA-AU 12 131163356 131163356 single base substitution C T intron_variant MELA-AU 12 131163391 131163391 single base substitution G A intron_variant MELA-AU 12 131163448 131163448 single base substitution G A intron_variant MELA-AU 12 131163494 131163494 single base substitution G A intron_variant MELA-AU 12 131163514 131163514 single base substitution G A intron_variant MELA-AU 12 131163605 131163605 single base substitution G A intron_variant MELA-AU 12 131163638 131163638 single base substitution A G intron_variant MELA-AU 12 131163696 131163696 single base substitution G A intron_variant MELA-AU 12 131163735 131163735 single base substitution G A intron_variant MELA-AU 12 131163797 131163797 single base substitution G A intron_variant MELA-AU 12 131163941 131163941 single base substitution G A intron_variant MELA-AU 12 131164013 131164013 single base substitution G T intron_variant MELA-AU 12 131164044 131164044 single base substitution C T intron_variant MELA-AU 12 131164146 131164146 single base substitution C T intron_variant MELA-AU 12 131164202 131164202 single base substitution G A intron_variant MELA-AU 12 131164252 131164252 single base substitution C T intron_variant MELA-AU 12 131164333 131164333 single base substitution G A intron_variant MELA-AU 12 131164375 131164375 single base substitution C T intron_variant MELA-AU 12 131164429 131164429 single base substitution G A intron_variant MELA-AU 12 131164478 131164478 single base substitution G A intron_variant MELA-AU 12 131164792 131164792 single base substitution C T intron_variant MELA-AU 12 131164796 131164796 single base substitution G A intron_variant MELA-AU 12 131164810 131164810 single base substitution G A intron_variant MELA-AU 12 131164829 131164829 single base substitution G T intron_variant MELA-AU 12 131165245 131165246 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 131166024 131166024 single base substitution C G intron_variant MELA-AU 12 131166108 131166108 single base substitution C T intron_variant MELA-AU 12 131166297 131166297 single base substitution C G intron_variant MELA-AU 12 131166462 131166462 single base substitution G A intron_variant MELA-AU 12 131166586 131166586 single base substitution C A intron_variant MELA-AU 12 131166693 131166693 single base substitution G A intron_variant MELA-AU 12 131166726 131166726 single base substitution C T intron_variant MELA-AU 12 131166792 131166792 single base substitution C T intron_variant MELA-AU 12 131166940 131166940 single base substitution C G intron_variant MELA-AU 12 131166940 131166940 single base substitution C T intron_variant MELA-AU 12 131166984 131166984 single base substitution C T intron_variant MELA-AU 12 131167189 131167189 single base substitution G A intron_variant MELA-AU 12 131167216 131167216 single base substitution C T intron_variant MELA-AU 12 131167255 131167255 single base substitution G A intron_variant MELA-AU 12 131167340 131167340 single base substitution G A intron_variant MELA-AU 12 131167395 131167395 single base substitution G A intron_variant MELA-AU 12 131167600 131167600 single base substitution A G intron_variant MELA-AU 12 131167636 131167636 single base substitution G A intron_variant MELA-AU 12 131167676 131167676 single base substitution G A intron_variant MELA-AU 12 131167711 131167711 single base substitution C T intron_variant MELA-AU 12 131167905 131167905 single base substitution C T intron_variant MELA-AU 12 131167946 131167946 single base substitution G A intron_variant MELA-AU 12 131167971 131167971 single base substitution C T intron_variant MELA-AU 12 131168128 131168128 single base substitution G A intron_variant MELA-AU 12 131168353 131168353 single base substitution C T intron_variant MELA-AU 12 131168514 131168514 single base substitution C T intron_variant MELA-AU 12 131168701 131168701 single base substitution G A intron_variant MELA-AU 12 131168757 131168757 single base substitution A T intron_variant MELA-AU 12 131168902 131168902 single base substitution G A intron_variant MELA-AU 12 131168921 131168921 single base substitution C T intron_variant MELA-AU 12 131169022 131169022 single base substitution C T intron_variant MELA-AU 12 131169065 131169065 single base substitution G A intron_variant MELA-AU 12 131169265 131169265 single base substitution G A intron_variant MELA-AU 12 131169318 131169318 single base substitution C T intron_variant MELA-AU 12 131169913 131169913 single base substitution A G intron_variant MELA-AU 12 131169939 131169939 single base substitution G A intron_variant MELA-AU 12 131170039 131170039 single base substitution C T intron_variant MELA-AU 12 131170076 131170076 single base substitution C T intron_variant MELA-AU 12 131170126 131170126 single base substitution C T intron_variant MELA-AU 12 131170276 131170276 single base substitution G A intron_variant MELA-AU 12 131170280 131170280 single base substitution C T intron_variant MELA-AU 12 131170311 131170311 single base substitution G A intron_variant MELA-AU 12 131170354 131170354 single base substitution C T intron_variant MELA-AU 12 131170478 131170478 single base substitution G A intron_variant MELA-AU 12 131170559 131170559 single base substitution C T intron_variant MELA-AU 12 131170630 131170630 single base substitution C T intron_variant MELA-AU 12 131170710 131170710 single base substitution C T intron_variant MELA-AU 12 131170721 131170721 single base substitution C A intron_variant MELA-AU 12 131170727 131170727 single base substitution C T intron_variant MELA-AU 12 131170798 131170798 single base substitution C T intron_variant MELA-AU 12 131170827 131170827 single base substitution G A intron_variant MELA-AU 12 131170828 131170828 single base substitution A G intron_variant MELA-AU 12 131170862 131170862 single base substitution C T intron_variant MELA-AU 12 131170867 131170867 single base substitution C G intron_variant MELA-AU 12 131170932 131170932 single base substitution G A intron_variant MELA-AU 12 131170933 131170933 single base substitution G A intron_variant MELA-AU 12 131171059 131171059 single base substitution T C intron_variant MELA-AU 12 131171075 131171075 single base substitution C T intron_variant MELA-AU 12 131171158 131171158 single base substitution G A intron_variant MELA-AU 12 131171666 131171666 single base substitution C T intron_variant MELA-AU 12 131171827 131171827 single base substitution C T intron_variant MELA-AU 12 131172025 131172025 single base substitution G A intron_variant MELA-AU 12 131172100 131172100 single base substitution C T intron_variant MELA-AU 12 131172195 131172195 single base substitution C T intron_variant MELA-AU 12 131172561 131172561 single base substitution C T intron_variant MELA-AU 12 131172595 131172595 single base substitution C T intron_variant MELA-AU 12 131172657 131172657 single base substitution C T intron_variant MELA-AU 12 131172909 131172909 single base substitution G A intron_variant MELA-AU 12 131172948 131172948 single base substitution G A intron_variant MELA-AU 12 131173090 131173091 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 131173098 131173098 single base substitution C T intron_variant MELA-AU 12 131173108 131173108 single base substitution C T intron_variant MELA-AU 12 131173169 131173169 single base substitution C T intron_variant MELA-AU 12 131173245 131173245 single base substitution C T intron_variant MELA-AU 12 131173322 131173322 single base substitution C T intron_variant MELA-AU 12 131173374 131173374 single base substitution G A intron_variant MELA-AU 12 131173390 131173390 single base substitution C T intron_variant MELA-AU 12 131173453 131173453 single base substitution C T intron_variant MELA-AU 12 131173522 131173522 single base substitution C T intron_variant MELA-AU 12 131173523 131173523 single base substitution C T intron_variant MELA-AU 12 131173799 131173799 single base substitution G A intron_variant MELA-AU 12 131173932 131173932 single base substitution C T intron_variant MELA-AU 12 131173994 131173994 deletion of <=200bp A - intron_variant MELA-AU 12 131174026 131174026 single base substitution C T intron_variant MELA-AU 12 131174135 131174135 single base substitution C T intron_variant MELA-AU 12 131174475 131174475 single base substitution C T intron_variant MELA-AU 12 131174502 131174502 single base substitution G A intron_variant MELA-AU 12 131174533 131174533 single base substitution G A intron_variant MELA-AU 12 131174694 131174694 single base substitution C T intron_variant MELA-AU 12 131174722 131174722 single base substitution C T intron_variant MELA-AU 12 131174917 131174917 single base substitution C T intron_variant MELA-AU 12 131174947 131174947 single base substitution C T intron_variant MELA-AU 12 131175009 131175009 single base substitution A C intron_variant MELA-AU 12 131175275 131175275 single base substitution G A intron_variant MELA-AU 12 131175317 131175317 single base substitution G A intron_variant MELA-AU 12 131175338 131175338 single base substitution G A intron_variant MELA-AU 12 131175390 131175390 single base substitution C T intron_variant MELA-AU 12 131175395 131175395 single base substitution G A intron_variant MELA-AU 12 131175667 131175667 single base substitution G A intron_variant MELA-AU 12 131175677 131175677 single base substitution C T intron_variant MELA-AU 12 131175841 131175841 single base substitution G A intron_variant MELA-AU 12 131175912 131175912 single base substitution C T intron_variant MELA-AU 12 131175994 131175994 single base substitution C T intron_variant MELA-AU 12 131176145 131176145 single base substitution G A intron_variant MELA-AU 12 131176472 131176472 single base substitution C T intron_variant MELA-AU 12 131176530 131176530 single base substitution G A intron_variant MELA-AU 12 131176533 131176533 single base substitution G A intron_variant MELA-AU 12 131176649 131176649 single base substitution G A intron_variant MELA-AU 12 131176804 131176804 single base substitution C T intron_variant MELA-AU 12 131177073 131177073 single base substitution C T intron_variant MELA-AU 12 131177103 131177103 single base substitution C T intron_variant MELA-AU 12 131177330 131177330 single base substitution G A intron_variant MELA-AU 12 131177378 131177378 single base substitution G A intron_variant MELA-AU 12 131177409 131177409 single base substitution G A intron_variant MELA-AU 12 131177490 131177490 single base substitution G A intron_variant MELA-AU 12 131177499 131177499 single base substitution G A intron_variant MELA-AU 12 131177569 131177569 single base substitution C T intron_variant MELA-AU 12 131177653 131177653 single base substitution C A intron_variant MELA-AU 12 131177722 131177722 single base substitution C T intron_variant MELA-AU 12 131177845 131177845 single base substitution C T intron_variant MELA-AU 12 131178173 131178173 single base substitution C T intron_variant MELA-AU 12 131178200 131178200 single base substitution C T intron_variant MELA-AU 12 131178251 131178251 single base substitution G A intron_variant MELA-AU 12 131178321 131178321 single base substitution C T intron_variant MELA-AU 12 131178410 131178410 single base substitution G A intron_variant MELA-AU 12 131178483 131178483 single base substitution G A intron_variant MELA-AU 12 131178801 131178801 single base substitution G A intron_variant MELA-AU 12 131178889 131178889 single base substitution C T intron_variant MELA-AU 12 131178909 131178909 single base substitution G A intron_variant MELA-AU 12 131179016 131179016 single base substitution G A intron_variant MELA-AU 12 131179131 131179131 single base substitution C T intron_variant MELA-AU 12 131179179 131179179 single base substitution C T intron_variant MELA-AU 12 131179231 131179231 single base substitution G A intron_variant MELA-AU 12 131179358 131179358 single base substitution G A intron_variant MELA-AU 12 131179399 131179399 single base substitution C T intron_variant MELA-AU 12 131179607 131179607 single base substitution C T intron_variant MELA-AU 12 131179714 131179714 single base substitution C T intron_variant MELA-AU 12 131179744 131179744 single base substitution C T intron_variant MELA-AU 12 131179791 131179791 single base substitution C T intron_variant MELA-AU 12 131180066 131180066 single base substitution C T intron_variant MELA-AU 12 131180082 131180082 single base substitution T C intron_variant MELA-AU 12 131180098 131180098 single base substitution G A intron_variant MELA-AU 12 131180161 131180161 single base substitution G A intron_variant MELA-AU 12 131180164 131180164 single base substitution A T intron_variant MELA-AU 12 131180269 131180269 single base substitution G A intron_variant MELA-AU 12 131180280 131180280 single base substitution G A intron_variant MELA-AU 12 131180356 131180356 single base substitution G A intron_variant MELA-AU 12 131180415 131180415 single base substitution G A intron_variant MELA-AU 12 131180469 131180469 single base substitution G A intron_variant MELA-AU 12 131180567 131180567 single base substitution C T intron_variant MELA-AU 12 131180746 131180746 single base substitution G A intron_variant MELA-AU 12 131180958 131180958 single base substitution C T intron_variant MELA-AU 12 131181019 131181019 single base substitution G A intron_variant MELA-AU 12 131181021 131181021 single base substitution A G intron_variant MELA-AU 12 131181372 131181372 single base substitution G A intron_variant MELA-AU 12 131181391 131181391 single base substitution G A intron_variant MELA-AU 12 131181530 131181530 single base substitution G A intron_variant MELA-AU 12 131181564 131181564 single base substitution G A intron_variant MELA-AU 12 131181717 131181717 single base substitution G A intron_variant MELA-AU 12 131181762 131181762 single base substitution C T intron_variant MELA-AU 12 131181866 131181866 single base substitution G A intron_variant MELA-AU 12 131182037 131182037 single base substitution C T intron_variant MELA-AU 12 131182053 131182053 single base substitution G A intron_variant MELA-AU 12 131182066 131182066 single base substitution C T intron_variant MELA-AU 12 131182078 131182078 single base substitution C T intron_variant MELA-AU 12 131182136 131182136 single base substitution G A intron_variant MELA-AU 12 131182175 131182175 single base substitution G A intron_variant MELA-AU 12 131182193 131182193 single base substitution C T intron_variant MELA-AU 12 131182346 131182346 single base substitution C T intron_variant MELA-AU 12 131182525 131182525 single base substitution G A intron_variant MELA-AU 12 131182652 131182652 single base substitution G A intron_variant MELA-AU 12 131182683 131182683 single base substitution G A intron_variant MELA-AU 12 131182732 131182732 single base substitution G A intron_variant MELA-AU 12 131182791 131182791 single base substitution C T intron_variant MELA-AU 12 131182802 131182802 single base substitution C T intron_variant MELA-AU 12 131182821 131182821 single base substitution G A intron_variant MELA-AU 12 131182923 131182923 single base substitution C T intron_variant MELA-AU 12 131182975 131182975 single base substitution C T intron_variant MELA-AU 12 131183005 131183005 single base substitution A G intron_variant MELA-AU 12 131183087 131183087 single base substitution G A intron_variant MELA-AU 12 131183100 131183100 single base substitution A G intron_variant MELA-AU 12 131183213 131183213 single base substitution G A intron_variant MELA-AU 12 131183726 131183726 single base substitution G A intron_variant MELA-AU 12 131183984 131183984 single base substitution G A intron_variant MELA-AU 12 131184419 131184419 single base substitution C T intron_variant MELA-AU 12 131184429 131184429 single base substitution G A intron_variant MELA-AU 12 131184501 131184501 single base substitution C T intron_variant MELA-AU 12 131184849 131184849 single base substitution G A intron_variant MELA-AU 12 131184924 131184924 single base substitution C T intron_variant MELA-AU 12 131185123 131185123 single base substitution G A intron_variant MELA-AU 12 131185138 131185138 single base substitution C T intron_variant MELA-AU 12 131185152 131185152 single base substitution G A intron_variant MELA-AU 12 131185577 131185577 single base substitution G A intron_variant MELA-AU 12 131185647 131185647 single base substitution G A intron_variant MELA-AU 12 131185803 131185803 single base substitution C T intron_variant MELA-AU 12 131185849 131185849 single base substitution G A intron_variant MELA-AU 12 131185977 131185977 single base substitution C G intron_variant MELA-AU 12 131186099 131186099 single base substitution G A intron_variant MELA-AU 12 131186156 131186156 single base substitution G A intron_variant MELA-AU 12 131186209 131186209 single base substitution C T intron_variant MELA-AU 12 131186222 131186222 single base substitution G A intron_variant MELA-AU 12 131186360 131186360 single base substitution A C intron_variant MELA-AU 12 131186535 131186535 single base substitution G A intron_variant MELA-AU 12 131186699 131186699 single base substitution C T intron_variant MELA-AU 12 131186859 131186859 single base substitution C T intron_variant MELA-AU 12 131187093 131187093 single base substitution G A intron_variant MELA-AU 12 131187140 131187140 single base substitution G A intron_variant MELA-AU 12 131187156 131187156 single base substitution G A intron_variant MELA-AU 12 131187189 131187189 single base substitution G A intron_variant MELA-AU 12 131187194 131187194 single base substitution G A intron_variant MELA-AU 12 131187663 131187664 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 12 131187852 131187852 single base substitution C T intron_variant MELA-AU 12 131187889 131187889 single base substitution T C intron_variant MELA-AU 12 131188042 131188042 single base substitution C T intron_variant MELA-AU 12 131188100 131188100 single base substitution G A intron_variant MELA-AU 12 131188130 131188130 single base substitution C T intron_variant MELA-AU 12 131188132 131188132 single base substitution C A intron_variant MELA-AU 12 131188161 131188162 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 12 131188309 131188309 single base substitution C T intron_variant MELA-AU 12 131188354 131188354 single base substitution A T intron_variant MELA-AU 12 131188363 131188363 insertion of <=200bp - AG intron_variant MELA-AU 12 131188575 131188575 single base substitution C G intron_variant MELA-AU 12 131188627 131188627 single base substitution G A intron_variant MELA-AU 12 131188658 131188658 single base substitution G A intron_variant MELA-AU 12 131188792 131188792 single base substitution C T intron_variant MELA-AU 12 131188869 131188869 single base substitution C T intron_variant MELA-AU 12 131188941 131188941 single base substitution G A intron_variant MELA-AU 12 131188944 131188944 single base substitution A G intron_variant MELA-AU 12 131189113 131189113 single base substitution C T intron_variant MELA-AU 12 131189165 131189165 single base substitution A T intron_variant MELA-AU 12 131189459 131189459 single base substitution G A intron_variant MELA-AU 12 131189474 131189474 single base substitution C T intron_variant MELA-AU 12 131189487 131189487 single base substitution C T intron_variant MELA-AU 12 131189554 131189554 single base substitution G A intron_variant MELA-AU 12 131189662 131189662 single base substitution C T intron_variant MELA-AU 12 131189992 131189992 single base substitution C T intron_variant MELA-AU 12 131190043 131190043 single base substitution G A intron_variant MELA-AU 12 131190507 131190507 single base substitution G A intron_variant MELA-AU 12 131190995 131190995 single base substitution A C intron_variant MELA-AU 12 131191298 131191298 single base substitution G A intron_variant MELA-AU 12 131191371 131191371 single base substitution C T intron_variant MELA-AU 12 131191384 131191384 single base substitution G A intron_variant MELA-AU 12 131191406 131191406 single base substitution T G intron_variant MELA-AU 12 131191448 131191449 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 131191613 131191613 single base substitution C T intron_variant MELA-AU 12 131191777 131191777 single base substitution C T intron_variant MELA-AU 12 131191829 131191829 single base substitution G A intron_variant MELA-AU 12 131191886 131191886 single base substitution C T intron_variant MELA-AU 12 131191908 131191908 single base substitution G A intron_variant MELA-AU 12 131191974 131191974 single base substitution C T intron_variant MELA-AU 12 131192085 131192085 single base substitution G A intron_variant MELA-AU 12 131192347 131192347 single base substitution C T intron_variant MELA-AU 12 131192349 131192349 single base substitution G A intron_variant MELA-AU 12 131192359 131192359 single base substitution G A intron_variant MELA-AU 12 131193055 131193056 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 12 131193115 131193115 single base substitution C T intron_variant MELA-AU 12 131193247 131193247 single base substitution G A intron_variant MELA-AU 12 131193398 131193398 single base substitution G A intron_variant MELA-AU 12 131193428 131193428 single base substitution C T intron_variant MELA-AU 12 131193602 131193602 single base substitution G A intron_variant MELA-AU 12 131193721 131193721 single base substitution G A intron_variant MELA-AU 12 131193800 131193800 single base substitution C T intron_variant MELA-AU 12 131193834 131193834 single base substitution C T intron_variant MELA-AU 12 131194119 131194119 single base substitution C T intron_variant MELA-AU 12 131194161 131194162 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 12 131194264 131194264 single base substitution A G intron_variant MELA-AU 12 131194272 131194272 single base substitution C T intron_variant MELA-AU 12 131194431 131194431 single base substitution C T intron_variant MELA-AU 12 131194456 131194456 single base substitution G A intron_variant MELA-AU 12 131194470 131194470 single base substitution A T intron_variant MELA-AU 12 131194577 131194577 single base substitution G A intron_variant MELA-AU 12 131194796 131194796 single base substitution C T intron_variant MELA-AU 12 131194805 131194805 single base substitution G A intron_variant MELA-AU 12 131195432 131195432 single base substitution A T intron_variant MELA-AU 12 131195567 131195567 single base substitution C T intron_variant MELA-AU 12 131195574 131195574 single base substitution G A intron_variant MELA-AU 12 131195771 131195771 single base substitution G A intron_variant MELA-AU 12 131195995 131195995 single base substitution C T intron_variant MELA-AU 12 131196033 131196033 single base substitution T A intron_variant MELA-AU 12 131196253 131196253 single base substitution G A intron_variant MELA-AU 12 131196368 131196368 single base substitution C T intron_variant MELA-AU 12 131196413 131196413 single base substitution G A intron_variant MELA-AU 12 131196443 131196443 single base substitution C T intron_variant MELA-AU 12 131197547 131197547 single base substitution G A intron_variant MELA-AU 12 131197791 131197791 single base substitution G A intron_variant MELA-AU 12 131197815 131197815 single base substitution G A intron_variant MELA-AU 12 131197833 131197833 single base substitution G A intron_variant MELA-AU 12 131197932 131197932 single base substitution G A intron_variant MELA-AU 12 131198000 131198000 single base substitution G A intron_variant MELA-AU 12 131198507 131198507 single base substitution C T intron_variant MELA-AU 12 131198534 131198534 single base substitution C A intron_variant MELA-AU 12 131198937 131198937 single base substitution G A intron_variant MELA-AU 12 131199024 131199024 single base substitution G A intron_variant MELA-AU 12 131199090 131199090 single base substitution C T intron_variant MELA-AU 12 131199151 131199151 single base substitution C T intron_variant MELA-AU 12 131199151 131199152 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 12 131199275 131199275 single base substitution C A intron_variant MELA-AU 12 131199314 131199314 single base substitution C T intron_variant MELA-AU 12 131199500 131199500 single base substitution C T intron_variant MELA-AU 12 131199648 131199648 single base substitution C T intron_variant MELA-AU 12 131199688 131199688 single base substitution C T intron_variant MELA-AU 12 131199811 131199811 single base substitution G A intron_variant MELA-AU 12 131200043 131200043 single base substitution C T intron_variant MELA-AU 12 131200300 131200300 single base substitution T C intron_variant MELA-AU 12 131200426 131200426 single base substitution G A intron_variant MELA-AU 12 131200455 131200456 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 131200983 131200983 single base substitution C A upstream_gene_variant MELA-AU 12 131201401 131201401 single base substitution G A upstream_gene_variant MELA-AU 12 131201520 131201520 single base substitution C T upstream_gene_variant MELA-AU 12 131201852 131201852 single base substitution G A upstream_gene_variant MELA-AU 12 131202451 131202451 single base substitution G A upstream_gene_variant MELA-AU 12 131202507 131202507 single base substitution G A upstream_gene_variant MELA-AU 12 131202514 131202514 single base substitution G A upstream_gene_variant MELA-AU 12 131202548 131202548 single base substitution G A upstream_gene_variant MELA-AU 12 131202657 131202657 single base substitution G A upstream_gene_variant MELA-AU 12 131202658 131202658 single base substitution G A upstream_gene_variant MELA-AU 12 131202712 131202712 single base substitution C T upstream_gene_variant MELA-AU 12 131202727 131202727 single base substitution C T upstream_gene_variant MELA-AU 12 131202868 131202868 single base substitution G A upstream_gene_variant MELA-AU 12 131202902 131202902 single base substitution C T upstream_gene_variant MELA-AU 12 131202964 131202964 single base substitution C T upstream_gene_variant MELA-AU 12 131203071 131203071 single base substitution C T upstream_gene_variant MELA-AU 12 131203080 131203080 single base substitution G A upstream_gene_variant MELA-AU 12 131203244 131203244 insertion of <=200bp - TGC upstream_gene_variant MELA-AU 12 131203378 131203378 single base substitution T G upstream_gene_variant MELA-AU 12 131203495 131203495 single base substitution C T upstream_gene_variant MELA-AU 12 131203662 131203662 single base substitution G A upstream_gene_variant MELA-AU 12 131203670 131203670 single base substitution G A upstream_gene_variant MELA-AU 12 131203890 131203890 single base substitution C T upstream_gene_variant MELA-AU 12 131204504 131204504 single base substitution C T upstream_gene_variant MELA-AU 12 131204704 131204704 single base substitution G A upstream_gene_variant MELA-AU 12 131204727 131204727 single base substitution C T upstream_gene_variant MELA-AU 12 131204795 131204795 single base substitution C T upstream_gene_variant MELA-AU 12 131205151 131205151 single base substitution G T upstream_gene_variant MELA-AU 12 131205155 131205155 single base substitution C T upstream_gene_variant MELA-AU 12 131205208 131205208 single base substitution C T upstream_gene_variant MELA-AU 12 131205407 131205407 single base substitution G A upstream_gene_variant MELA-AU 12 131205654 131205654 single base substitution G A upstream_gene_variant MELA-AU 12 131205730 131205730 single base substitution G A upstream_gene_variant MELA-AU 12 131205731 131205731 single base substitution G A upstream_gene_variant MELA-AU 12 131205817 131205817 single base substitution G A upstream_gene_variant ORCA-IN 12 130892297 130892297 single base substitution C T exon_variant ORCA-IN 12 130892297 130892297 single base substitution C T missense_variant E104K 310G>A ORCA-IN 12 130892297 130892297 single base substitution C T missense_variant E967K 2899G>A ORCA-IN 12 130893209 130893209 single base substitution C T intron_variant ORCA-IN 12 130893209 130893209 single base substitution C T upstream_gene_variant ORCA-IN 12 130894034 130894034 single base substitution C T intron_variant ORCA-IN 12 130894034 130894034 single base substitution C T upstream_gene_variant ORCA-IN 12 130917347 130917347 single base substitution A C intron_variant ORCA-IN 12 130918671 130918671 single base substitution G A intron_variant ORCA-IN 12 130921553 130921553 single base substitution G T missense_variant A538E 1613C>A ORCA-IN 12 130921553 130921553 single base substitution G T missense_variant A630E 1889C>A ORCA-IN 12 130924388 130924388 single base substitution C G intron_variant ORCA-IN 12 130931360 130931360 single base substitution C T intron_variant ORCA-IN 12 130941227 130941227 single base substitution C T 5_prime_UTR_variant ORCA-IN 12 130941227 130941227 single base substitution C T missense_variant E41K 121G>A ORCA-IN 12 130955244 130955244 single base substitution C A 5_prime_UTR_variant ORCA-IN 12 130955244 130955244 single base substitution C A exon_variant ORCA-IN 12 130955244 130955244 single base substitution C A intron_variant ORCA-IN 12 130975315 130975315 single base substitution C T intron_variant ORCA-IN 12 130985808 130985808 single base substitution C T intron_variant ORCA-IN 12 131039812 131039812 single base substitution G A intron_variant ORCA-IN 12 131054297 131054297 single base substitution C T intron_variant ORCA-IN 12 131075861 131075861 single base substitution G A intron_variant ORCA-IN 12 131089816 131089816 single base substitution A C intron_variant ORCA-IN 12 131090349 131090349 single base substitution C A intron_variant ORCA-IN 12 131102768 131102768 single base substitution G A intron_variant ORCA-IN 12 131118841 131118841 single base substitution A G intron_variant ORCA-IN 12 131126527 131126527 single base substitution G T intron_variant ORCA-IN 12 131173518 131173518 single base substitution C G intron_variant OV-AU 12 130877749 130877749 single base substitution C T downstream_gene_variant OV-AU 12 130877936 130877936 single base substitution C G downstream_gene_variant OV-AU 12 130892262 130892262 single base substitution G C intron_variant OV-AU 12 130898385 130898385 single base substitution C G intron_variant OV-AU 12 130898947 130898947 single base substitution C T 5_prime_UTR_variant OV-AU 12 130898947 130898947 single base substitution C T intron_variant OV-AU 12 130900257 130900257 single base substitution A C intron_variant OV-AU 12 130900257 130900257 single base substitution A C upstream_gene_variant OV-AU 12 130907033 130907033 single base substitution G C missense_variant P812R 2435C>G OV-AU 12 130913005 130913005 single base substitution G A downstream_gene_variant OV-AU 12 130913005 130913005 single base substitution G A intron_variant OV-AU 12 130916445 130916445 single base substitution G A 3_prime_UTR_variant OV-AU 12 130916445 130916445 single base substitution G A intron_variant OV-AU 12 130917428 130917428 single base substitution G A intron_variant OV-AU 12 130917500 130917500 single base substitution T A intron_variant OV-AU 12 130918241 130918241 single base substitution C T intron_variant OV-AU 12 130922756 130922756 single base substitution G T intron_variant OV-AU 12 130927156 130927156 single base substitution G T missense_variant D138E 414C>A OV-AU 12 130927156 130927156 single base substitution G T missense_variant D230E 690C>A OV-AU 12 130929879 130929879 single base substitution G A intron_variant OV-AU 12 130931380 130931380 single base substitution A T intron_variant OV-AU 12 130931540 130931540 single base substitution T G intron_variant OV-AU 12 130933894 130933894 single base substitution G A intron_variant OV-AU 12 130935766 130935766 single base substitution T A missense_variant S143C 427A>T OV-AU 12 130935766 130935766 single base substitution T A missense_variant S51C 151A>T OV-AU 12 130939656 130939656 single base substitution G A intron_variant OV-AU 12 130943110 130943110 single base substitution C T intron_variant OV-AU 12 130943383 130943383 single base substitution A T intron_variant OV-AU 12 130945308 130945308 single base substitution T A intron_variant OV-AU 12 130946817 130946817 single base substitution A C intron_variant OV-AU 12 130948403 130948403 single base substitution G C intron_variant OV-AU 12 130950295 130950295 single base substitution C T downstream_gene_variant OV-AU 12 130950295 130950295 single base substitution C T intron_variant OV-AU 12 130957518 130957518 single base substitution A G intron_variant OV-AU 12 130967904 130967904 single base substitution C T intron_variant OV-AU 12 130968474 130968474 single base substitution C A intron_variant OV-AU 12 130972629 130972629 single base substitution G A intron_variant OV-AU 12 130975124 130975124 single base substitution C T intron_variant OV-AU 12 130988426 130988426 single base substitution A T intron_variant OV-AU 12 130988871 130988871 single base substitution C A intron_variant OV-AU 12 130989072 130989072 single base substitution G A intron_variant OV-AU 12 130991671 130991671 single base substitution C T intron_variant OV-AU 12 130991671 130991671 single base substitution C T upstream_gene_variant OV-AU 12 130991770 130991770 single base substitution C G intron_variant OV-AU 12 130991770 130991770 single base substitution C G upstream_gene_variant OV-AU 12 130994183 130994183 single base substitution C T intron_variant OV-AU 12 130994183 130994183 single base substitution C T upstream_gene_variant OV-AU 12 130994646 130994646 single base substitution C A intron_variant OV-AU 12 130994646 130994646 single base substitution C A upstream_gene_variant OV-AU 12 130996227 130996227 single base substitution C T intron_variant OV-AU 12 130996227 130996227 single base substitution C T upstream_gene_variant OV-AU 12 130997104 130997104 single base substitution G C intron_variant OV-AU 12 131003811 131003811 single base substitution T G intron_variant OV-AU 12 131003811 131003811 single base substitution T G upstream_gene_variant OV-AU 12 131007510 131007510 single base substitution T C intron_variant OV-AU 12 131007553 131007553 single base substitution G A intron_variant OV-AU 12 131014773 131014773 single base substitution C T intron_variant OV-AU 12 131017400 131017400 single base substitution T C intron_variant OV-AU 12 131017689 131017689 single base substitution C T intron_variant OV-AU 12 131022165 131022165 single base substitution T A intron_variant OV-AU 12 131023391 131023391 single base substitution G A intron_variant OV-AU 12 131031566 131031566 single base substitution T A intron_variant OV-AU 12 131035810 131035810 single base substitution G C intron_variant OV-AU 12 131042716 131042716 single base substitution G A intron_variant OV-AU 12 131043341 131043341 single base substitution T G intron_variant OV-AU 12 131048995 131048995 single base substitution C A intron_variant OV-AU 12 131049173 131049173 single base substitution T A intron_variant OV-AU 12 131053941 131053941 single base substitution C G intron_variant OV-AU 12 131055967 131055967 single base substitution T A intron_variant OV-AU 12 131056038 131056038 single base substitution C T intron_variant OV-AU 12 131058954 131058954 single base substitution C A intron_variant OV-AU 12 131060169 131060169 single base substitution C A intron_variant OV-AU 12 131060855 131060855 single base substitution G T intron_variant OV-AU 12 131063605 131063605 single base substitution G A intron_variant OV-AU 12 131067827 131067827 single base substitution G A intron_variant OV-AU 12 131068929 131068929 single base substitution C A intron_variant OV-AU 12 131075698 131075698 single base substitution G T intron_variant OV-AU 12 131077363 131077363 single base substitution C G intron_variant OV-AU 12 131082048 131082048 single base substitution A T intron_variant OV-AU 12 131083367 131083367 single base substitution T A intron_variant OV-AU 12 131086614 131086614 single base substitution C A intron_variant OV-AU 12 131087639 131087639 single base substitution G T intron_variant OV-AU 12 131097883 131097883 single base substitution G T intron_variant OV-AU 12 131101293 131101293 single base substitution G C intron_variant OV-AU 12 131103210 131103210 single base substitution T A intron_variant OV-AU 12 131109007 131109007 single base substitution A T intron_variant OV-AU 12 131113752 131113752 single base substitution A T intron_variant OV-AU 12 131121259 131121259 single base substitution A G intron_variant OV-AU 12 131125780 131125780 single base substitution G T intron_variant OV-AU 12 131129348 131129348 single base substitution G A intron_variant OV-AU 12 131132011 131132011 single base substitution C T intron_variant OV-AU 12 131136749 131136749 single base substitution C A intron_variant OV-AU 12 131136855 131136855 single base substitution C A intron_variant OV-AU 12 131142181 131142181 single base substitution T A intron_variant OV-AU 12 131149937 131149937 single base substitution G A intron_variant OV-AU 12 131156004 131156004 single base substitution C T intron_variant OV-AU 12 131159739 131159739 single base substitution C T intron_variant OV-AU 12 131159916 131159916 single base substitution C T intron_variant OV-AU 12 131160487 131160487 single base substitution C T intron_variant OV-AU 12 131163499 131163499 single base substitution G C intron_variant OV-AU 12 131164837 131164837 single base substitution G A intron_variant OV-AU 12 131177707 131177707 single base substitution C G intron_variant OV-AU 12 131180396 131180396 single base substitution G T intron_variant OV-AU 12 131182744 131182744 single base substitution G C intron_variant OV-AU 12 131185406 131185406 single base substitution G A intron_variant OV-AU 12 131186186 131186186 single base substitution G C intron_variant OV-AU 12 131187122 131187122 single base substitution A G intron_variant OV-AU 12 131187126 131187126 single base substitution A G intron_variant OV-AU 12 131188340 131188340 single base substitution C A intron_variant OV-AU 12 131194903 131194903 single base substitution C G intron_variant OV-AU 12 131200306 131200306 single base substitution C G intron_variant OV-AU 12 131201473 131201473 single base substitution T C upstream_gene_variant OV-AU 12 131203796 131203796 single base substitution G T upstream_gene_variant OV-AU 12 131203797 131203797 single base substitution A T upstream_gene_variant PACA-AU 12 130876410 130876410 single base substitution C T downstream_gene_variant PACA-AU 12 130880009 130880009 single base substitution A G downstream_gene_variant PACA-AU 12 130880391 130880391 single base substitution C A downstream_gene_variant PACA-AU 12 130881041 130881041 single base substitution G T 3_prime_UTR_variant PACA-AU 12 130881041 130881041 single base substitution G T downstream_gene_variant PACA-AU 12 130881647 130881647 single base substitution G A 3_prime_UTR_variant PACA-AU 12 130881647 130881647 single base substitution G A downstream_gene_variant PACA-AU 12 130883862 130883862 single base substitution G A downstream_gene_variant PACA-AU 12 130883862 130883862 single base substitution G A intron_variant PACA-AU 12 130885971 130885971 single base substitution A T intron_variant PACA-AU 12 130890611 130890611 single base substitution G A intron_variant PACA-AU 12 130891707 130891707 single base substitution C T intron_variant PACA-AU 12 130893679 130893679 single base substitution C T intron_variant PACA-AU 12 130893679 130893679 single base substitution C T upstream_gene_variant PACA-AU 12 130894179 130894179 single base substitution C T intron_variant PACA-AU 12 130894179 130894179 single base substitution C T upstream_gene_variant PACA-AU 12 130896134 130896134 single base substitution G A intron_variant PACA-AU 12 130896134 130896134 single base substitution G A upstream_gene_variant PACA-AU 12 130897158 130897158 single base substitution G A splice_region_variant PACA-AU 12 130897158 130897158 single base substitution G A upstream_gene_variant PACA-AU 12 130898006 130898006 single base substitution C A intron_variant PACA-AU 12 130898744 130898744 single base substitution C T 5_prime_UTR_variant PACA-AU 12 130898744 130898744 single base substitution C T missense_variant D860N 2578G>A PACA-AU 12 130898771 130898771 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 12 130898771 130898771 single base substitution G A missense_variant R851W 2551C>T PACA-AU 12 130898881 130898881 single base substitution C T 5_prime_UTR_variant PACA-AU 12 130898881 130898881 single base substitution C T intron_variant PACA-AU 12 130901902 130901902 single base substitution G A intron_variant PACA-AU 12 130901902 130901902 single base substitution G A upstream_gene_variant PACA-AU 12 130904484 130904484 single base substitution G T intron_variant PACA-AU 12 130905916 130905916 single base substitution T G intron_variant PACA-AU 12 130906549 130906549 single base substitution C T intron_variant PACA-AU 12 130907016 130907016 single base substitution C T missense_variant V818M 2452G>A PACA-AU 12 130910188 130910188 single base substitution C A intron_variant PACA-AU 12 130912881 130912881 single base substitution G A downstream_gene_variant PACA-AU 12 130912881 130912881 single base substitution G A missense_variant P735L 2204C>T PACA-AU 12 130913510 130913510 single base substitution C T downstream_gene_variant PACA-AU 12 130913510 130913510 single base substitution C T intron_variant PACA-AU 12 130913707 130913707 single base substitution G A downstream_gene_variant PACA-AU 12 130913707 130913707 single base substitution G A intron_variant PACA-AU 12 130913831 130913831 single base substitution C T downstream_gene_variant PACA-AU 12 130913831 130913831 single base substitution C T intron_variant PACA-AU 12 130914287 130914287 single base substitution G T downstream_gene_variant PACA-AU 12 130914287 130914287 single base substitution G T intron_variant PACA-AU 12 130915796 130915796 single base substitution C A downstream_gene_variant PACA-AU 12 130915796 130915796 single base substitution C A intron_variant PACA-AU 12 130916822 130916822 single base substitution C T intron_variant PACA-AU 12 130919318 130919318 single base substitution C T synonymous_variant S629S 1887G>A PACA-AU 12 130919318 130919318 single base substitution C T synonymous_variant S721S 2163G>A PACA-AU 12 130919387 130919387 single base substitution C T synonymous_variant A606A 1818G>A PACA-AU 12 130919387 130919387 single base substitution C T synonymous_variant A698A 2094G>A PACA-AU 12 130923032 130923032 single base substitution C T missense_variant V403I 1207G>A PACA-AU 12 130923032 130923032 single base substitution C T missense_variant V495I 1483G>A PACA-AU 12 130923422 130923422 single base substitution C T intron_variant PACA-AU 12 130923743 130923743 single base substitution A G intron_variant PACA-AU 12 130925615 130925615 single base substitution G A intron_variant PACA-AU 12 130927890 130927890 single base substitution C A intron_variant PACA-AU 12 130928642 130928642 single base substitution A G intron_variant PACA-AU 12 130929901 130929901 single base substitution G T intron_variant PACA-AU 12 130930411 130930411 single base substitution T A intron_variant PACA-AU 12 130930736 130930736 single base substitution C T intron_variant PACA-AU 12 130932153 130932153 single base substitution G A intron_variant PACA-AU 12 130932319 130932319 single base substitution C T intron_variant PACA-AU 12 130932743 130932743 single base substitution G A intron_variant PACA-AU 12 130935562 130935562 deletion of <=200bp C - intron_variant PACA-AU 12 130935934 130935934 single base substitution G A intron_variant PACA-AU 12 130936498 130936498 single base substitution A G intron_variant PACA-AU 12 130937059 130937059 single base substitution C T intron_variant PACA-AU 12 130937945 130937945 single base substitution C A intron_variant PACA-AU 12 130938384 130938384 single base substitution A T intron_variant PACA-AU 12 130938460 130938460 single base substitution G A intron_variant PACA-AU 12 130939257 130939257 single base substitution T C intron_variant PACA-AU 12 130939669 130939669 single base substitution C T intron_variant PACA-AU 12 130940412 130940412 single base substitution G C intron_variant PACA-AU 12 130940877 130940877 single base substitution C A intron_variant PACA-AU 12 130943172 130943172 single base substitution C T intron_variant PACA-AU 12 130943983 130943983 single base substitution G A intron_variant PACA-AU 12 130944820 130944820 single base substitution G A intron_variant PACA-AU 12 130947045 130947045 single base substitution G T intron_variant PACA-AU 12 130947367 130947367 single base substitution C T intron_variant PACA-AU 12 130947675 130947675 single base substitution G A intron_variant PACA-AU 12 130949323 130949323 single base substitution A T intron_variant PACA-AU 12 130950311 130950311 single base substitution C A downstream_gene_variant PACA-AU 12 130950311 130950311 single base substitution C A intron_variant PACA-AU 12 130950388 130950388 single base substitution C T downstream_gene_variant PACA-AU 12 130950388 130950388 single base substitution C T intron_variant PACA-AU 12 130950503 130950503 single base substitution G T downstream_gene_variant PACA-AU 12 130950503 130950503 single base substitution G T intron_variant PACA-AU 12 130951343 130951343 single base substitution T C downstream_gene_variant PACA-AU 12 130951343 130951343 single base substitution T C intron_variant PACA-AU 12 130952778 130952778 single base substitution C T downstream_gene_variant PACA-AU 12 130952778 130952778 single base substitution C T intron_variant PACA-AU 12 130952865 130952865 single base substitution A T downstream_gene_variant PACA-AU 12 130952865 130952865 single base substitution A T intron_variant PACA-AU 12 130953913 130953913 single base substitution G A downstream_gene_variant PACA-AU 12 130953913 130953913 single base substitution G A intron_variant PACA-AU 12 130954436 130954436 single base substitution G A downstream_gene_variant PACA-AU 12 130954436 130954436 single base substitution G A intron_variant PACA-AU 12 130955197 130955197 single base substitution G A exon_variant PACA-AU 12 130955197 130955197 single base substitution G A intron_variant PACA-AU 12 130955684 130955684 single base substitution T C intron_variant PACA-AU 12 130955755 130955755 single base substitution C T intron_variant PACA-AU 12 130955981 130955981 single base substitution G A intron_variant PACA-AU 12 130956141 130956141 single base substitution G A intron_variant PACA-AU 12 130957002 130957002 single base substitution G A intron_variant PACA-AU 12 130957554 130957554 single base substitution G T intron_variant PACA-AU 12 130957764 130957764 single base substitution C T intron_variant PACA-AU 12 130958476 130958476 insertion of <=200bp - AGC intron_variant PACA-AU 12 130959887 130959887 single base substitution C T intron_variant PACA-AU 12 130960059 130960059 single base substitution G A intron_variant PACA-AU 12 130960694 130960694 single base substitution G A intron_variant PACA-AU 12 130961004 130961004 single base substitution C T intron_variant PACA-AU 12 130961525 130961525 single base substitution A C intron_variant PACA-AU 12 130965389 130965389 single base substitution G A intron_variant PACA-AU 12 130966992 130966992 single base substitution G A intron_variant PACA-AU 12 130968956 130968956 single base substitution G A intron_variant PACA-AU 12 130970849 130970849 single base substitution C T intron_variant PACA-AU 12 130971609 130971609 single base substitution C T intron_variant PACA-AU 12 130972823 130972823 single base substitution G A intron_variant PACA-AU 12 130972867 130972867 single base substitution C T intron_variant PACA-AU 12 130973109 130973109 single base substitution C A intron_variant PACA-AU 12 130973279 130973279 single base substitution A C intron_variant PACA-AU 12 130974500 130974500 single base substitution C G intron_variant PACA-AU 12 130977689 130977689 deletion of <=200bp A - intron_variant PACA-AU 12 130979928 130979928 single base substitution G T intron_variant PACA-AU 12 130981698 130981698 single base substitution C T intron_variant PACA-AU 12 130983325 130983325 single base substitution C T intron_variant PACA-AU 12 130987552 130987552 single base substitution C A intron_variant PACA-AU 12 130988896 130988896 single base substitution C T intron_variant PACA-AU 12 130988946 130988946 deletion of <=200bp A - intron_variant PACA-AU 12 130991259 130991259 single base substitution G A 5_prime_UTR_variant PACA-AU 12 130991259 130991259 single base substitution G A exon_variant PACA-AU 12 130994666 130994666 single base substitution G A intron_variant PACA-AU 12 130994666 130994666 single base substitution G A upstream_gene_variant PACA-AU 12 130995271 130995271 single base substitution C T intron_variant PACA-AU 12 130995271 130995271 single base substitution C T upstream_gene_variant PACA-AU 12 130995273 130995273 single base substitution C T intron_variant PACA-AU 12 130995273 130995273 single base substitution C T upstream_gene_variant PACA-AU 12 130995706 130995706 single base substitution C A intron_variant PACA-AU 12 130995706 130995706 single base substitution C A upstream_gene_variant PACA-AU 12 130995706 130995706 single base substitution C G intron_variant PACA-AU 12 130995706 130995706 single base substitution C G upstream_gene_variant PACA-AU 12 130996336 130996336 single base substitution C T intron_variant PACA-AU 12 130997554 130997554 single base substitution G C intron_variant PACA-AU 12 130999131 130999131 single base substitution T A intron_variant PACA-AU 12 130999611 130999611 single base substitution C T intron_variant PACA-AU 12 130999765 130999765 single base substitution C T intron_variant PACA-AU 12 131001275 131001275 single base substitution G A intron_variant PACA-AU 12 131005904 131005904 single base substitution G A intron_variant PACA-AU 12 131005904 131005904 single base substitution G A upstream_gene_variant PACA-AU 12 131006686 131006686 deletion of <=200bp G - intron_variant PACA-AU 12 131006686 131006686 deletion of <=200bp G - upstream_gene_variant PACA-AU 12 131008365 131008365 single base substitution C T intron_variant PACA-AU 12 131014275 131014275 single base substitution C A intron_variant PACA-AU 12 131014315 131014315 single base substitution G T intron_variant PACA-AU 12 131016960 131016960 single base substitution T A intron_variant PACA-AU 12 131017030 131017030 single base substitution G A intron_variant PACA-AU 12 131019543 131019543 single base substitution C T intron_variant PACA-AU 12 131019869 131019869 single base substitution C A intron_variant PACA-AU 12 131021773 131021773 single base substitution G A intron_variant PACA-AU 12 131024899 131024899 single base substitution A G intron_variant PACA-AU 12 131025589 131025589 single base substitution G A intron_variant PACA-AU 12 131026180 131026180 single base substitution T C intron_variant PACA-AU 12 131026285 131026285 single base substitution C A intron_variant PACA-AU 12 131026319 131026319 single base substitution C T intron_variant PACA-AU 12 131027276 131027276 single base substitution G T intron_variant PACA-AU 12 131027331 131027331 single base substitution C G intron_variant PACA-AU 12 131028134 131028134 single base substitution G A intron_variant PACA-AU 12 131030227 131030227 single base substitution G A intron_variant PACA-AU 12 131031499 131031499 single base substitution C A intron_variant PACA-AU 12 131031775 131031775 single base substitution A T intron_variant PACA-AU 12 131032620 131032620 single base substitution G T intron_variant PACA-AU 12 131033211 131033211 single base substitution C T intron_variant PACA-AU 12 131035497 131035497 single base substitution G C intron_variant PACA-AU 12 131037179 131037179 single base substitution A G intron_variant PACA-AU 12 131039016 131039016 single base substitution T C intron_variant PACA-AU 12 131041645 131041645 single base substitution G A intron_variant PACA-AU 12 131042038 131042038 single base substitution C G intron_variant PACA-AU 12 131043788 131043788 single base substitution C A intron_variant PACA-AU 12 131043967 131043967 single base substitution T G intron_variant PACA-AU 12 131044849 131044849 deletion of <=200bp G - intron_variant PACA-AU 12 131044901 131044901 single base substitution C T intron_variant PACA-AU 12 131046290 131046290 single base substitution C T intron_variant PACA-AU 12 131046323 131046323 single base substitution A C intron_variant PACA-AU 12 131048535 131048535 single base substitution C T intron_variant PACA-AU 12 131048995 131048995 single base substitution C T intron_variant PACA-AU 12 131049676 131049676 single base substitution A C intron_variant PACA-AU 12 131050746 131050746 single base substitution T A intron_variant PACA-AU 12 131053160 131053160 single base substitution T C intron_variant PACA-AU 12 131053372 131053372 single base substitution G A intron_variant PACA-AU 12 131053622 131053622 single base substitution T C intron_variant PACA-AU 12 131053876 131053876 single base substitution C T intron_variant PACA-AU 12 131053984 131053984 single base substitution T G intron_variant PACA-AU 12 131054538 131054538 single base substitution C T intron_variant PACA-AU 12 131055164 131055164 single base substitution C T intron_variant PACA-AU 12 131055170 131055170 single base substitution G A intron_variant PACA-AU 12 131056265 131056265 single base substitution C T intron_variant PACA-AU 12 131056486 131056486 single base substitution G A intron_variant PACA-AU 12 131057280 131057280 single base substitution C A intron_variant PACA-AU 12 131058354 131058354 single base substitution T C intron_variant PACA-AU 12 131060192 131060192 single base substitution G A intron_variant PACA-AU 12 131060717 131060717 single base substitution C T intron_variant PACA-AU 12 131062149 131062149 single base substitution G A intron_variant PACA-AU 12 131063374 131063374 single base substitution T C intron_variant PACA-AU 12 131064838 131064838 single base substitution C T intron_variant PACA-AU 12 131065660 131065660 insertion of <=200bp - G intron_variant PACA-AU 12 131066512 131066512 single base substitution C G intron_variant PACA-AU 12 131068188 131068188 single base substitution G A intron_variant PACA-AU 12 131069278 131069278 single base substitution C A intron_variant PACA-AU 12 131070320 131070320 single base substitution C T intron_variant PACA-AU 12 131070861 131070861 single base substitution G T intron_variant PACA-AU 12 131070949 131070949 single base substitution A T intron_variant PACA-AU 12 131071009 131071009 single base substitution G T intron_variant PACA-AU 12 131073545 131073545 single base substitution A T intron_variant PACA-AU 12 131074226 131074226 single base substitution A G intron_variant PACA-AU 12 131077893 131077893 single base substitution C T intron_variant PACA-AU 12 131079869 131079869 single base substitution C T intron_variant PACA-AU 12 131080203 131080203 single base substitution G A intron_variant PACA-AU 12 131080242 131080242 single base substitution A T intron_variant PACA-AU 12 131080368 131080368 single base substitution C T intron_variant PACA-AU 12 131084938 131084938 single base substitution C T intron_variant PACA-AU 12 131089575 131089575 single base substitution A G intron_variant PACA-AU 12 131089888 131089888 single base substitution C T intron_variant PACA-AU 12 131090401 131090401 single base substitution G T intron_variant PACA-AU 12 131093911 131093911 single base substitution T A intron_variant PACA-AU 12 131098574 131098574 single base substitution G A intron_variant PACA-AU 12 131098913 131098913 single base substitution G A intron_variant PACA-AU 12 131099122 131099122 single base substitution G T intron_variant PACA-AU 12 131100125 131100125 single base substitution G A intron_variant PACA-AU 12 131100855 131100855 single base substitution C T intron_variant PACA-AU 12 131101741 131101741 single base substitution T A intron_variant PACA-AU 12 131102957 131102957 single base substitution G A intron_variant PACA-AU 12 131103201 131103201 single base substitution G A intron_variant PACA-AU 12 131105024 131105024 single base substitution C T intron_variant PACA-AU 12 131108787 131108787 single base substitution G A intron_variant PACA-AU 12 131109545 131109545 single base substitution G T intron_variant PACA-AU 12 131109655 131109655 single base substitution G A intron_variant PACA-AU 12 131109712 131109712 single base substitution C G intron_variant PACA-AU 12 131112397 131112397 single base substitution G A intron_variant PACA-AU 12 131115443 131115443 single base substitution G A intron_variant PACA-AU 12 131116801 131116801 single base substitution C T intron_variant PACA-AU 12 131119783 131119783 single base substitution C T intron_variant PACA-AU 12 131120545 131120545 deletion of <=200bp A - intron_variant PACA-AU 12 131120562 131120562 single base substitution C T intron_variant PACA-AU 12 131120570 131120570 single base substitution G C intron_variant PACA-AU 12 131122185 131122185 single base substitution C T intron_variant PACA-AU 12 131122415 131122415 single base substitution T C intron_variant PACA-AU 12 131124155 131124155 single base substitution C T intron_variant PACA-AU 12 131127027 131127027 single base substitution G A intron_variant PACA-AU 12 131127218 131127218 single base substitution C T intron_variant PACA-AU 12 131127245 131127245 single base substitution G A intron_variant PACA-AU 12 131129243 131129243 single base substitution G A intron_variant PACA-AU 12 131130475 131130475 single base substitution C T intron_variant PACA-AU 12 131131085 131131085 single base substitution G A intron_variant PACA-AU 12 131131190 131131190 single base substitution T A intron_variant PACA-AU 12 131131230 131131230 single base substitution T G intron_variant PACA-AU 12 131133264 131133264 single base substitution C T intron_variant PACA-AU 12 131133812 131133812 single base substitution G A intron_variant PACA-AU 12 131134597 131134597 single base substitution A G intron_variant PACA-AU 12 131135325 131135325 single base substitution G A intron_variant PACA-AU 12 131135811 131135811 single base substitution G A intron_variant PACA-AU 12 131135858 131135858 insertion of <=200bp - C intron_variant PACA-AU 12 131137344 131137344 single base substitution G A intron_variant PACA-AU 12 131137371 131137371 single base substitution C T intron_variant PACA-AU 12 131141264 131141264 single base substitution C A intron_variant PACA-AU 12 131143398 131143398 single base substitution G A intron_variant PACA-AU 12 131145176 131145176 single base substitution C A intron_variant PACA-AU 12 131149305 131149305 single base substitution G A intron_variant PACA-AU 12 131149716 131149716 single base substitution C T intron_variant PACA-AU 12 131151633 131151633 single base substitution G A intron_variant PACA-AU 12 131152078 131152078 single base substitution G T intron_variant PACA-AU 12 131152089 131152089 single base substitution G T intron_variant PACA-AU 12 131152623 131152623 single base substitution G A intron_variant PACA-AU 12 131155568 131155568 single base substitution G A intron_variant PACA-AU 12 131158075 131158075 single base substitution C T intron_variant PACA-AU 12 131158878 131158878 single base substitution C A intron_variant PACA-AU 12 131159074 131159074 single base substitution C A intron_variant PACA-AU 12 131159868 131159868 single base substitution C T intron_variant PACA-AU 12 131159874 131159874 single base substitution G A intron_variant PACA-AU 12 131160563 131160563 single base substitution G A intron_variant PACA-AU 12 131160670 131160670 single base substitution C T intron_variant PACA-AU 12 131161334 131161334 single base substitution G A intron_variant PACA-AU 12 131161341 131161341 single base substitution C T intron_variant PACA-AU 12 131162736 131162736 single base substitution C A intron_variant PACA-AU 12 131162897 131162897 single base substitution G A intron_variant PACA-AU 12 131163209 131163209 single base substitution C T intron_variant PACA-AU 12 131163807 131163807 single base substitution C T intron_variant PACA-AU 12 131165140 131165140 single base substitution C A intron_variant PACA-AU 12 131165338 131165338 single base substitution C T intron_variant PACA-AU 12 131168735 131168735 single base substitution C G intron_variant PACA-AU 12 131169118 131169118 single base substitution T A intron_variant PACA-AU 12 131170583 131170583 single base substitution C T intron_variant PACA-AU 12 131170737 131170737 single base substitution C T intron_variant PACA-AU 12 131173267 131173267 single base substitution A G intron_variant PACA-AU 12 131173928 131173928 single base substitution A C intron_variant PACA-AU 12 131174765 131174765 single base substitution G A intron_variant PACA-AU 12 131175667 131175667 single base substitution G C intron_variant PACA-AU 12 131176796 131176796 deletion of <=200bp G - intron_variant PACA-AU 12 131177065 131177065 single base substitution G T intron_variant PACA-AU 12 131179379 131179379 single base substitution C T intron_variant PACA-AU 12 131180107 131180107 single base substitution T G intron_variant PACA-AU 12 131181456 131181456 single base substitution G T intron_variant PACA-AU 12 131182336 131182336 single base substitution C A intron_variant PACA-AU 12 131184470 131184470 single base substitution A G intron_variant PACA-AU 12 131186460 131186460 single base substitution C T intron_variant PACA-AU 12 131187553 131187560 deletion of <=200bp ATTTATTC - intron_variant PACA-AU 12 131188005 131188005 single base substitution C T intron_variant PACA-AU 12 131188576 131188576 single base substitution G A intron_variant PACA-AU 12 131190037 131190037 single base substitution G A intron_variant PACA-AU 12 131191447 131191447 single base substitution T G intron_variant PACA-AU 12 131198245 131198245 single base substitution G A intron_variant PACA-CA 12 130876172 130876172 single base substitution G A downstream_gene_variant PACA-CA 12 130876569 130876569 single base substitution G A downstream_gene_variant PACA-CA 12 130877667 130877667 single base substitution A G downstream_gene_variant PACA-CA 12 130877721 130877721 single base substitution C A downstream_gene_variant PACA-CA 12 130878015 130878015 single base substitution G A downstream_gene_variant PACA-CA 12 130878845 130878845 single base substitution C T downstream_gene_variant PACA-CA 12 130883927 130883927 single base substitution C A downstream_gene_variant PACA-CA 12 130883927 130883927 single base substitution C A intron_variant PACA-CA 12 130884028 130884028 deletion of <=200bp T - downstream_gene_variant PACA-CA 12 130884028 130884028 deletion of <=200bp T - intron_variant PACA-CA 12 130885049 130885049 single base substitution T G intron_variant PACA-CA 12 130885489 130885489 single base substitution G A intron_variant PACA-CA 12 130887581 130887581 single base substitution G A intron_variant PACA-CA 12 130888801 130888801 single base substitution C A intron_variant PACA-CA 12 130890152 130890152 single base substitution C T intron_variant PACA-CA 12 130890840 130890840 insertion of <=200bp - T intron_variant PACA-CA 12 130891492 130891492 single base substitution T C intron_variant PACA-CA 12 130891850 130891850 single base substitution C T intron_variant PACA-CA 12 130892814 130892814 single base substitution G A intron_variant PACA-CA 12 130892814 130892814 single base substitution G A upstream_gene_variant PACA-CA 12 130892980 130892980 single base substitution G T intron_variant PACA-CA 12 130892980 130892980 single base substitution G T upstream_gene_variant PACA-CA 12 130894131 130894131 single base substitution G A intron_variant PACA-CA 12 130894131 130894131 single base substitution G A upstream_gene_variant PACA-CA 12 130895658 130895658 single base substitution C T intron_variant PACA-CA 12 130895658 130895658 single base substitution C T upstream_gene_variant PACA-CA 12 130895793 130895793 single base substitution C G intron_variant PACA-CA 12 130895793 130895793 single base substitution C G upstream_gene_variant PACA-CA 12 130898560 130898560 single base substitution C T intron_variant PACA-CA 12 130899689 130899689 single base substitution A C intron_variant PACA-CA 12 130899689 130899689 single base substitution A C upstream_gene_variant PACA-CA 12 130901912 130901912 single base substitution A T intron_variant PACA-CA 12 130901912 130901912 single base substitution A T upstream_gene_variant PACA-CA 12 130904541 130904541 single base substitution G T intron_variant PACA-CA 12 130904615 130904622 deletion of <=200bp TTGTTTTC - intron_variant PACA-CA 12 130905035 130905035 single base substitution G A intron_variant PACA-CA 12 130905311 130905311 single base substitution G T intron_variant PACA-CA 12 130907027 130907027 single base substitution C T missense_variant R814K 2441G>A PACA-CA 12 130907870 130907870 single base substitution C T intron_variant PACA-CA 12 130907878 130907878 single base substitution G A intron_variant PACA-CA 12 130908481 130908481 single base substitution T G intron_variant PACA-CA 12 130910053 130910053 single base substitution C T intron_variant PACA-CA 12 130911517 130911517 single base substitution C T downstream_gene_variant PACA-CA 12 130911517 130911517 single base substitution C T intron_variant PACA-CA 12 130911571 130911571 single base substitution G C downstream_gene_variant PACA-CA 12 130911571 130911571 single base substitution G C intron_variant PACA-CA 12 130911792 130911792 single base substitution C T downstream_gene_variant PACA-CA 12 130911792 130911792 single base substitution C T intron_variant PACA-CA 12 130911907 130911907 single base substitution C T downstream_gene_variant PACA-CA 12 130911907 130911907 single base substitution C T intron_variant PACA-CA 12 130912591 130912591 single base substitution C T downstream_gene_variant PACA-CA 12 130912591 130912591 single base substitution C T intron_variant PACA-CA 12 130913365 130913365 single base substitution G T downstream_gene_variant PACA-CA 12 130913365 130913365 single base substitution G T intron_variant PACA-CA 12 130913415 130913415 single base substitution G T downstream_gene_variant PACA-CA 12 130913415 130913415 single base substitution G T intron_variant PACA-CA 12 130913752 130913752 single base substitution G A downstream_gene_variant PACA-CA 12 130913752 130913752 single base substitution G A intron_variant PACA-CA 12 130914295 130914295 single base substitution C T downstream_gene_variant PACA-CA 12 130914295 130914295 single base substitution C T intron_variant PACA-CA 12 130914661 130914661 single base substitution G T downstream_gene_variant PACA-CA 12 130914661 130914661 single base substitution G T intron_variant PACA-CA 12 130914886 130914886 single base substitution G A downstream_gene_variant PACA-CA 12 130914886 130914886 single base substitution G A intron_variant PACA-CA 12 130915333 130915333 single base substitution G A downstream_gene_variant PACA-CA 12 130915333 130915333 single base substitution G A intron_variant PACA-CA 12 130915862 130915862 single base substitution C T downstream_gene_variant PACA-CA 12 130915862 130915862 single base substitution C T intron_variant PACA-CA 12 130915906 130915906 single base substitution C T downstream_gene_variant PACA-CA 12 130915906 130915906 single base substitution C T intron_variant PACA-CA 12 130918487 130918487 single base substitution G A intron_variant PACA-CA 12 130919299 130919299 single base substitution C T missense_variant G636S 1906G>A PACA-CA 12 130919299 130919299 single base substitution C T missense_variant G728S 2182G>A PACA-CA 12 130920637 130920637 single base substitution C A intron_variant PACA-CA 12 130921001 130921001 single base substitution C G intron_variant PACA-CA 12 130921496 130921496 single base substitution G A missense_variant S557L 1670C>T PACA-CA 12 130921496 130921496 single base substitution G A missense_variant S649L 1946C>T PACA-CA 12 130922229 130922229 single base substitution G A intron_variant PACA-CA 12 130922851 130922851 single base substitution C A intron_variant PACA-CA 12 130923090 130923090 single base substitution G A intron_variant PACA-CA 12 130923170 130923170 single base substitution G A intron_variant PACA-CA 12 130923445 130923445 single base substitution C T intron_variant PACA-CA 12 130923737 130923737 single base substitution G A intron_variant PACA-CA 12 130923801 130923801 single base substitution A T intron_variant PACA-CA 12 130923905 130923905 single base substitution C T intron_variant PACA-CA 12 130924865 130924865 single base substitution G T intron_variant PACA-CA 12 130925815 130925815 single base substitution A G intron_variant PACA-CA 12 130926160 130926160 single base substitution G T intron_variant PACA-CA 12 130926314 130926314 single base substitution C T intron_variant PACA-CA 12 130926485 130926485 single base substitution A T missense_variant V362D 1085T>A PACA-CA 12 130926485 130926485 single base substitution A T missense_variant V454D 1361T>A PACA-CA 12 130926638 130926638 single base substitution G A missense_variant T311M 932C>T PACA-CA 12 130926638 130926638 single base substitution G A missense_variant T403M 1208C>T PACA-CA 12 130928704 130928704 single base substitution T A intron_variant PACA-CA 12 130928896 130928896 single base substitution A G intron_variant PACA-CA 12 130929069 130929069 single base substitution G C intron_variant PACA-CA 12 130929145 130929145 single base substitution A T intron_variant PACA-CA 12 130931588 130931588 single base substitution C T intron_variant PACA-CA 12 130932791 130932791 single base substitution G A intron_variant PACA-CA 12 130932937 130932937 single base substitution G A intron_variant PACA-CA 12 130934146 130934146 single base substitution C T intron_variant PACA-CA 12 130935469 130935469 single base substitution C A intron_variant PACA-CA 12 130935837 130935837 single base substitution C T missense_variant R119Q 356G>A PACA-CA 12 130935837 130935837 single base substitution C T missense_variant R27Q 80G>A PACA-CA 12 130936053 130936053 single base substitution C T intron_variant PACA-CA 12 130936268 130936268 single base substitution G C intron_variant PACA-CA 12 130936635 130936635 single base substitution G A intron_variant PACA-CA 12 130937280 130937280 single base substitution G A intron_variant PACA-CA 12 130937335 130937335 single base substitution T C intron_variant PACA-CA 12 130938224 130938224 single base substitution C T intron_variant PACA-CA 12 130938677 130938677 single base substitution C G intron_variant PACA-CA 12 130939087 130939087 single base substitution C T intron_variant PACA-CA 12 130939414 130939414 single base substitution C T intron_variant PACA-CA 12 130939935 130939935 single base substitution C T intron_variant PACA-CA 12 130939990 130939990 single base substitution G A intron_variant PACA-CA 12 130940123 130940123 single base substitution G A intron_variant PACA-CA 12 130941122 130941122 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 12 130941122 130941122 single base substitution C A missense_variant V76L 226G>T PACA-CA 12 130941126 130941126 single base substitution G A 5_prime_UTR_variant PACA-CA 12 130941126 130941126 single base substitution G A synonymous_variant S74S 222C>T PACA-CA 12 130941356 130941356 single base substitution T C intron_variant PACA-CA 12 130941599 130941599 single base substitution G T intron_variant PACA-CA 12 130942683 130942683 single base substitution G A intron_variant PACA-CA 12 130942975 130942975 single base substitution C T intron_variant PACA-CA 12 130943327 130943327 single base substitution C T intron_variant PACA-CA 12 130944561 130944561 single base substitution C T intron_variant PACA-CA 12 130944799 130944799 single base substitution C T intron_variant PACA-CA 12 130944827 130944827 single base substitution C A intron_variant PACA-CA 12 130947374 130947374 single base substitution C T intron_variant PACA-CA 12 130947502 130947502 single base substitution G A intron_variant PACA-CA 12 130947607 130947607 single base substitution G T intron_variant PACA-CA 12 130949221 130949221 single base substitution C T intron_variant PACA-CA 12 130950103 130950103 single base substitution G A downstream_gene_variant PACA-CA 12 130950103 130950103 single base substitution G A intron_variant PACA-CA 12 130950509 130950509 single base substitution C T downstream_gene_variant PACA-CA 12 130950509 130950509 single base substitution C T intron_variant PACA-CA 12 130951522 130951522 single base substitution C A downstream_gene_variant PACA-CA 12 130951522 130951522 single base substitution C A intron_variant PACA-CA 12 130953355 130953355 single base substitution T C downstream_gene_variant PACA-CA 12 130953355 130953355 single base substitution T C intron_variant PACA-CA 12 130956164 130956164 single base substitution C T intron_variant PACA-CA 12 130956893 130956893 single base substitution G C intron_variant PACA-CA 12 130957219 130957219 single base substitution T C intron_variant PACA-CA 12 130957837 130957837 single base substitution C G intron_variant PACA-CA 12 130960435 130960435 single base substitution C T intron_variant PACA-CA 12 130960694 130960694 single base substitution G A intron_variant PACA-CA 12 130961407 130961407 single base substitution C T intron_variant PACA-CA 12 130962405 130962405 single base substitution G T intron_variant PACA-CA 12 130964274 130964274 single base substitution C A intron_variant PACA-CA 12 130965741 130965741 single base substitution G T intron_variant PACA-CA 12 130965743 130965743 single base substitution A G intron_variant PACA-CA 12 130966237 130966237 single base substitution C G intron_variant PACA-CA 12 130966744 130966744 single base substitution T A intron_variant PACA-CA 12 130967079 130967085 deletion of <=200bp GATACGA - intron_variant PACA-CA 12 130968024 130968024 single base substitution A C intron_variant PACA-CA 12 130968366 130968366 single base substitution C T intron_variant PACA-CA 12 130968614 130968614 single base substitution C T intron_variant PACA-CA 12 130968956 130968956 single base substitution G A intron_variant PACA-CA 12 130969921 130969921 single base substitution C T intron_variant PACA-CA 12 130970057 130970057 single base substitution G A intron_variant PACA-CA 12 130970226 130970226 single base substitution G A intron_variant PACA-CA 12 130970447 130970447 single base substitution G A intron_variant PACA-CA 12 130971093 130971093 single base substitution G A intron_variant PACA-CA 12 130971586 130971586 single base substitution T A intron_variant PACA-CA 12 130973016 130973016 deletion of <=200bp A - intron_variant PACA-CA 12 130973376 130973376 single base substitution G A intron_variant PACA-CA 12 130973790 130973790 single base substitution G A intron_variant PACA-CA 12 130973906 130973906 single base substitution T C intron_variant PACA-CA 12 130975207 130975207 single base substitution C G intron_variant PACA-CA 12 130976068 130976068 single base substitution C T intron_variant PACA-CA 12 130977275 130977275 deletion of <=200bp G - intron_variant PACA-CA 12 130977558 130977558 single base substitution C A intron_variant PACA-CA 12 130977698 130977698 insertion of <=200bp - A intron_variant PACA-CA 12 130977891 130977891 single base substitution G A intron_variant PACA-CA 12 130979529 130979529 single base substitution C T intron_variant PACA-CA 12 130981502 130981502 single base substitution C T intron_variant PACA-CA 12 130982019 130982019 single base substitution C T intron_variant PACA-CA 12 130982826 130982826 single base substitution G A intron_variant PACA-CA 12 130986089 130986089 single base substitution C T intron_variant PACA-CA 12 130986762 130986762 single base substitution C T intron_variant PACA-CA 12 130986967 130986967 single base substitution A T intron_variant PACA-CA 12 130987442 130987442 single base substitution C T intron_variant PACA-CA 12 130987833 130987833 single base substitution C T intron_variant PACA-CA 12 130988871 130988871 deletion of <=200bp C - intron_variant PACA-CA 12 130990986 130990986 single base substitution G A intron_variant PACA-CA 12 130991165 130991165 single base substitution C G intron_variant PACA-CA 12 130992185 130992185 single base substitution G A intron_variant PACA-CA 12 130992185 130992185 single base substitution G A upstream_gene_variant PACA-CA 12 130993169 130993169 single base substitution T G intron_variant PACA-CA 12 130993169 130993169 single base substitution T G upstream_gene_variant PACA-CA 12 130993834 130993834 single base substitution C A intron_variant PACA-CA 12 130993834 130993834 single base substitution C A upstream_gene_variant PACA-CA 12 130994279 130994279 single base substitution G A intron_variant PACA-CA 12 130994279 130994279 single base substitution G A upstream_gene_variant PACA-CA 12 130994738 130994738 single base substitution G A intron_variant PACA-CA 12 130994738 130994738 single base substitution G A upstream_gene_variant PACA-CA 12 130994994 130994994 single base substitution C T intron_variant PACA-CA 12 130994994 130994994 single base substitution C T upstream_gene_variant PACA-CA 12 130996344 130996344 single base substitution C T intron_variant PACA-CA 12 130996541 130996541 single base substitution A G intron_variant PACA-CA 12 130996907 130996907 single base substitution G A intron_variant PACA-CA 12 130996969 130996969 single base substitution G A intron_variant PACA-CA 12 130998007 130998007 single base substitution A G intron_variant PACA-CA 12 130998987 130998987 single base substitution G A intron_variant PACA-CA 12 130999201 130999201 single base substitution C T intron_variant PACA-CA 12 130999826 130999826 single base substitution G A intron_variant PACA-CA 12 131000279 131000279 single base substitution G T intron_variant PACA-CA 12 131000388 131000388 single base substitution G A intron_variant PACA-CA 12 131001480 131001480 single base substitution G A intron_variant PACA-CA 12 131001629 131001629 single base substitution C A intron_variant PACA-CA 12 131001792 131001792 single base substitution C A intron_variant PACA-CA 12 131002271 131002271 single base substitution G T intron_variant PACA-CA 12 131002675 131002675 single base substitution G A intron_variant PACA-CA 12 131002675 131002675 single base substitution G A upstream_gene_variant PACA-CA 12 131003219 131003219 single base substitution G T intron_variant PACA-CA 12 131003219 131003219 single base substitution G T upstream_gene_variant PACA-CA 12 131003566 131003566 single base substitution G T intron_variant PACA-CA 12 131003566 131003566 single base substitution G T upstream_gene_variant PACA-CA 12 131004275 131004275 single base substitution A T intron_variant PACA-CA 12 131004275 131004275 single base substitution A T upstream_gene_variant PACA-CA 12 131004784 131004784 single base substitution A T intron_variant PACA-CA 12 131004784 131004784 single base substitution A T upstream_gene_variant PACA-CA 12 131005108 131005108 single base substitution T G intron_variant PACA-CA 12 131005108 131005108 single base substitution T G upstream_gene_variant PACA-CA 12 131005501 131005501 single base substitution A T intron_variant PACA-CA 12 131005501 131005501 single base substitution A T upstream_gene_variant PACA-CA 12 131005622 131005622 single base substitution A G intron_variant PACA-CA 12 131005622 131005622 single base substitution A G upstream_gene_variant PACA-CA 12 131005963 131005963 single base substitution A C intron_variant PACA-CA 12 131005963 131005963 single base substitution A C upstream_gene_variant PACA-CA 12 131007454 131007454 single base substitution C T intron_variant PACA-CA 12 131007454 131007454 single base substitution C T upstream_gene_variant PACA-CA 12 131007748 131007748 insertion of <=200bp - G intron_variant PACA-CA 12 131007749 131007749 deletion of <=200bp G - intron_variant PACA-CA 12 131008895 131008895 single base substitution C T intron_variant PACA-CA 12 131009421 131009421 single base substitution G T intron_variant PACA-CA 12 131009481 131009481 single base substitution C T intron_variant PACA-CA 12 131010853 131010853 single base substitution G A intron_variant PACA-CA 12 131014137 131014137 single base substitution A T intron_variant PACA-CA 12 131014181 131014181 single base substitution T A intron_variant PACA-CA 12 131015164 131015164 single base substitution C G intron_variant PACA-CA 12 131015319 131015319 single base substitution A C intron_variant PACA-CA 12 131015722 131015722 single base substitution T C intron_variant PACA-CA 12 131016435 131016435 single base substitution C T intron_variant PACA-CA 12 131016760 131016760 single base substitution T G intron_variant PACA-CA 12 131016951 131016951 single base substitution T G intron_variant PACA-CA 12 131016953 131016953 single base substitution C T intron_variant PACA-CA 12 131017068 131017068 single base substitution G A intron_variant PACA-CA 12 131017424 131017424 single base substitution G A intron_variant PACA-CA 12 131017846 131017846 single base substitution G A intron_variant PACA-CA 12 131018124 131018124 single base substitution A T intron_variant PACA-CA 12 131020172 131020172 single base substitution A C intron_variant PACA-CA 12 131020614 131020614 single base substitution G A intron_variant PACA-CA 12 131023756 131023756 single base substitution C T intron_variant PACA-CA 12 131024194 131024194 single base substitution G C intron_variant PACA-CA 12 131025805 131025805 single base substitution T A intron_variant PACA-CA 12 131027333 131027333 single base substitution A C intron_variant PACA-CA 12 131027634 131027634 single base substitution T A intron_variant PACA-CA 12 131028159 131028159 single base substitution G A intron_variant PACA-CA 12 131028448 131028448 single base substitution C T intron_variant PACA-CA 12 131028611 131028611 single base substitution T G intron_variant PACA-CA 12 131029825 131029825 single base substitution G A intron_variant PACA-CA 12 131033869 131033869 single base substitution G T intron_variant PACA-CA 12 131033989 131033989 single base substitution C T intron_variant PACA-CA 12 131034115 131034115 single base substitution C T intron_variant PACA-CA 12 131035232 131035232 single base substitution G A intron_variant PACA-CA 12 131035246 131035246 single base substitution C T intron_variant PACA-CA 12 131036102 131036102 insertion of <=200bp - G intron_variant PACA-CA 12 131036408 131036408 single base substitution C T intron_variant PACA-CA 12 131039145 131039145 single base substitution C T intron_variant PACA-CA 12 131042129 131042129 single base substitution G A intron_variant PACA-CA 12 131042970 131042970 single base substitution T C intron_variant PACA-CA 12 131043091 131043091 single base substitution G A intron_variant PACA-CA 12 131043830 131043830 single base substitution G A intron_variant PACA-CA 12 131044874 131044874 single base substitution C T intron_variant PACA-CA 12 131045449 131045449 single base substitution T A intron_variant PACA-CA 12 131045920 131045920 single base substitution T A intron_variant PACA-CA 12 131047312 131047312 single base substitution A G intron_variant PACA-CA 12 131048011 131048011 single base substitution C A intron_variant PACA-CA 12 131048995 131048995 single base substitution C T intron_variant PACA-CA 12 131050342 131050342 single base substitution C T intron_variant PACA-CA 12 131053073 131053073 single base substitution G T intron_variant PACA-CA 12 131053121 131053121 single base substitution A G intron_variant PACA-CA 12 131054454 131054454 single base substitution T A intron_variant PACA-CA 12 131054903 131054903 single base substitution G A intron_variant PACA-CA 12 131056033 131056033 single base substitution C T intron_variant PACA-CA 12 131057009 131057009 single base substitution C T intron_variant PACA-CA 12 131058615 131058615 single base substitution G A intron_variant PACA-CA 12 131060092 131060092 single base substitution C T intron_variant PACA-CA 12 131061038 131061038 single base substitution G A intron_variant PACA-CA 12 131063505 131063505 single base substitution A G intron_variant PACA-CA 12 131064672 131064672 single base substitution G T intron_variant PACA-CA 12 131066524 131066524 single base substitution A T intron_variant PACA-CA 12 131069557 131069557 single base substitution G A intron_variant PACA-CA 12 131072847 131072847 single base substitution C A intron_variant PACA-CA 12 131073222 131073222 single base substitution C T intron_variant PACA-CA 12 131074903 131074903 single base substitution C T intron_variant PACA-CA 12 131075525 131075525 single base substitution T A intron_variant PACA-CA 12 131077414 131077414 single base substitution C T intron_variant PACA-CA 12 131077449 131077449 single base substitution G A intron_variant PACA-CA 12 131077756 131077756 single base substitution G A intron_variant PACA-CA 12 131077815 131077815 single base substitution A C intron_variant PACA-CA 12 131078118 131078118 single base substitution G A intron_variant PACA-CA 12 131078131 131078131 single base substitution C T intron_variant PACA-CA 12 131079984 131079984 single base substitution T A intron_variant PACA-CA 12 131080723 131080723 single base substitution C A intron_variant PACA-CA 12 131080945 131080945 single base substitution C T intron_variant PACA-CA 12 131082249 131082249 single base substitution A G intron_variant PACA-CA 12 131082309 131082309 single base substitution G A intron_variant PACA-CA 12 131083887 131083887 single base substitution G A intron_variant PACA-CA 12 131084880 131084880 single base substitution A T intron_variant PACA-CA 12 131085353 131085353 single base substitution C T intron_variant PACA-CA 12 131086291 131086291 single base substitution T C intron_variant PACA-CA 12 131086687 131086687 single base substitution A G intron_variant PACA-CA 12 131087987 131087987 single base substitution G T intron_variant PACA-CA 12 131088345 131088345 single base substitution C T intron_variant PACA-CA 12 131088465 131088465 single base substitution A T intron_variant PACA-CA 12 131088668 131088668 single base substitution G A intron_variant PACA-CA 12 131089955 131089955 single base substitution C T intron_variant PACA-CA 12 131090180 131090180 deletion of <=200bp A - intron_variant PACA-CA 12 131090640 131090640 deletion of <=200bp A - intron_variant PACA-CA 12 131093786 131093786 deletion of <=200bp C - intron_variant PACA-CA 12 131094128 131094128 deletion of <=200bp G - intron_variant PACA-CA 12 131094174 131094174 single base substitution A G intron_variant PACA-CA 12 131094206 131094206 single base substitution G A intron_variant PACA-CA 12 131094364 131094364 single base substitution G T intron_variant PACA-CA 12 131094772 131094772 single base substitution G C intron_variant PACA-CA 12 131095063 131095063 single base substitution A T intron_variant PACA-CA 12 131095605 131095605 single base substitution G A intron_variant PACA-CA 12 131095666 131095666 single base substitution C T intron_variant PACA-CA 12 131097086 131097086 single base substitution C T intron_variant PACA-CA 12 131099753 131099753 single base substitution A C intron_variant PACA-CA 12 131101113 131101113 single base substitution C T intron_variant PACA-CA 12 131101150 131101150 single base substitution G T intron_variant PACA-CA 12 131101157 131101157 single base substitution A C intron_variant PACA-CA 12 131101291 131101291 single base substitution T C intron_variant PACA-CA 12 131102507 131102507 single base substitution C T intron_variant PACA-CA 12 131104204 131104206 deletion of <=200bp GTC - intron_variant PACA-CA 12 131104770 131104770 single base substitution G T intron_variant PACA-CA 12 131104810 131104810 deletion of <=200bp A - intron_variant PACA-CA 12 131104925 131104925 single base substitution G A intron_variant PACA-CA 12 131105070 131105070 single base substitution C T intron_variant PACA-CA 12 131105109 131105109 single base substitution G A intron_variant PACA-CA 12 131105427 131105427 single base substitution C T intron_variant PACA-CA 12 131105995 131105995 single base substitution G A intron_variant PACA-CA 12 131106135 131106135 single base substitution A C intron_variant PACA-CA 12 131106176 131106176 single base substitution G A intron_variant PACA-CA 12 131106828 131106828 single base substitution C A intron_variant PACA-CA 12 131107111 131107111 single base substitution G A intron_variant PACA-CA 12 131109077 131109077 single base substitution C T intron_variant PACA-CA 12 131109427 131109427 single base substitution G A intron_variant PACA-CA 12 131111427 131111427 single base substitution C T intron_variant PACA-CA 12 131111589 131111589 single base substitution G C intron_variant PACA-CA 12 131111773 131111773 single base substitution G A intron_variant PACA-CA 12 131112098 131112098 single base substitution C T intron_variant PACA-CA 12 131114964 131114964 insertion of <=200bp - TA intron_variant PACA-CA 12 131117989 131117989 single base substitution G A intron_variant PACA-CA 12 131117991 131117991 single base substitution C T intron_variant PACA-CA 12 131119566 131119566 single base substitution A G intron_variant PACA-CA 12 131121593 131121593 single base substitution A G intron_variant PACA-CA 12 131122724 131122724 single base substitution C G intron_variant PACA-CA 12 131122783 131122783 single base substitution C A intron_variant PACA-CA 12 131124308 131124308 single base substitution G T intron_variant PACA-CA 12 131126007 131126007 single base substitution A T intron_variant PACA-CA 12 131126058 131126058 single base substitution C T intron_variant PACA-CA 12 131127484 131127484 single base substitution G A intron_variant PACA-CA 12 131128717 131128717 single base substitution C T intron_variant PACA-CA 12 131129208 131129208 single base substitution G A intron_variant PACA-CA 12 131129501 131129501 single base substitution G A intron_variant PACA-CA 12 131131081 131131081 single base substitution C A intron_variant PACA-CA 12 131133606 131133606 single base substitution C T intron_variant PACA-CA 12 131134132 131134132 single base substitution G A intron_variant PACA-CA 12 131134281 131134281 single base substitution G C intron_variant PACA-CA 12 131135158 131135158 single base substitution C T intron_variant PACA-CA 12 131135416 131135416 single base substitution T G intron_variant PACA-CA 12 131135913 131135913 single base substitution G A intron_variant PACA-CA 12 131137600 131137600 single base substitution G T intron_variant PACA-CA 12 131138393 131138393 single base substitution G T intron_variant PACA-CA 12 131138467 131138467 single base substitution G A intron_variant PACA-CA 12 131140164 131140164 insertion of <=200bp - A intron_variant PACA-CA 12 131140506 131140506 single base substitution C T intron_variant PACA-CA 12 131141467 131141467 single base substitution C T intron_variant PACA-CA 12 131142326 131142326 single base substitution C T intron_variant PACA-CA 12 131142585 131142585 single base substitution T C intron_variant PACA-CA 12 131143172 131143172 single base substitution C G intron_variant PACA-CA 12 131144385 131144385 deletion of <=200bp G - intron_variant PACA-CA 12 131145009 131145009 single base substitution C T intron_variant PACA-CA 12 131145221 131145221 deletion of <=200bp C - intron_variant PACA-CA 12 131145237 131145237 single base substitution G A intron_variant PACA-CA 12 131146070 131146070 single base substitution C T intron_variant PACA-CA 12 131148254 131148254 single base substitution A T intron_variant PACA-CA 12 131148577 131148577 single base substitution A T intron_variant PACA-CA 12 131149505 131149505 single base substitution C T intron_variant PACA-CA 12 131150034 131150034 single base substitution C T intron_variant PACA-CA 12 131152622 131152622 single base substitution C T intron_variant PACA-CA 12 131152843 131152843 single base substitution A C intron_variant PACA-CA 12 131153216 131153216 single base substitution A T intron_variant PACA-CA 12 131153456 131153456 single base substitution G A intron_variant PACA-CA 12 131153492 131153492 insertion of <=200bp - T intron_variant PACA-CA 12 131154269 131154269 single base substitution C A intron_variant PACA-CA 12 131154768 131154768 single base substitution C A intron_variant PACA-CA 12 131156332 131156332 single base substitution G C intron_variant PACA-CA 12 131156648 131156648 single base substitution G A intron_variant PACA-CA 12 131157709 131157709 single base substitution C T intron_variant PACA-CA 12 131159189 131159189 single base substitution T A intron_variant PACA-CA 12 131159369 131159369 single base substitution G T intron_variant PACA-CA 12 131159402 131159402 single base substitution T G intron_variant PACA-CA 12 131160136 131160136 single base substitution A C intron_variant PACA-CA 12 131160635 131160635 single base substitution G A intron_variant PACA-CA 12 131160907 131160907 single base substitution C T intron_variant PACA-CA 12 131161307 131161307 single base substitution C T intron_variant PACA-CA 12 131161453 131161453 single base substitution G C intron_variant PACA-CA 12 131162071 131162071 single base substitution A G intron_variant PACA-CA 12 131162849 131162849 single base substitution C T intron_variant PACA-CA 12 131164078 131164078 single base substitution G T intron_variant PACA-CA 12 131164422 131164422 single base substitution G A intron_variant PACA-CA 12 131164500 131164500 single base substitution C T intron_variant PACA-CA 12 131164520 131164520 single base substitution G A intron_variant PACA-CA 12 131166488 131166488 single base substitution C T intron_variant PACA-CA 12 131166930 131166930 single base substitution A G intron_variant PACA-CA 12 131167128 131167128 deletion of <=200bp A - intron_variant PACA-CA 12 131167772 131167772 single base substitution C T intron_variant PACA-CA 12 131167893 131167893 single base substitution G A intron_variant PACA-CA 12 131168054 131168054 single base substitution G C intron_variant PACA-CA 12 131168599 131168599 single base substitution A G intron_variant PACA-CA 12 131169656 131169656 single base substitution G A intron_variant PACA-CA 12 131170525 131170525 single base substitution G A intron_variant PACA-CA 12 131170606 131170606 single base substitution G A intron_variant PACA-CA 12 131171217 131171217 single base substitution G A intron_variant PACA-CA 12 131171694 131171694 single base substitution A G intron_variant PACA-CA 12 131173849 131173849 single base substitution G A intron_variant PACA-CA 12 131174352 131174352 single base substitution A T intron_variant PACA-CA 12 131174599 131174599 single base substitution C G intron_variant PACA-CA 12 131174669 131174669 single base substitution C T intron_variant PACA-CA 12 131174926 131174926 single base substitution C T intron_variant PACA-CA 12 131176842 131176842 single base substitution G A intron_variant PACA-CA 12 131177392 131177392 single base substitution G A intron_variant PACA-CA 12 131177798 131177798 insertion of <=200bp - GAAT intron_variant PACA-CA 12 131178644 131178644 single base substitution T G intron_variant PACA-CA 12 131179586 131179586 single base substitution G A intron_variant PACA-CA 12 131185815 131185815 single base substitution C T intron_variant PACA-CA 12 131185911 131185911 single base substitution C T intron_variant PACA-CA 12 131187274 131187274 single base substitution C T intron_variant PACA-CA 12 131188362 131188362 insertion of <=200bp - AG intron_variant PACA-CA 12 131188577 131188577 single base substitution G A intron_variant PACA-CA 12 131193894 131193894 single base substitution G A intron_variant PACA-CA 12 131193915 131193915 single base substitution C T intron_variant PACA-CA 12 131194043 131194043 single base substitution G C intron_variant PACA-CA 12 131196112 131196112 single base substitution C T intron_variant PACA-CA 12 131196443 131196443 single base substitution C T intron_variant PACA-CA 12 131196608 131196608 single base substitution C T intron_variant PACA-CA 12 131197100 131197100 single base substitution G A intron_variant PACA-CA 12 131199004 131199004 single base substitution G A intron_variant PACA-CA 12 131200236 131200236 single base substitution C T intron_variant PACA-CA 12 131203205 131203205 single base substitution G A upstream_gene_variant PACA-CA 12 131203332 131203332 insertion of <=200bp - TG upstream_gene_variant PAEN-AU 12 130876841 130876841 single base substitution T G downstream_gene_variant PAEN-AU 12 130877083 130877083 single base substitution C T downstream_gene_variant PAEN-AU 12 130877951 130877951 single base substitution G T downstream_gene_variant PAEN-AU 12 130931758 130931758 single base substitution G T intron_variant PAEN-AU 12 130938224 130938224 single base substitution C T intron_variant PAEN-AU 12 130940025 130940025 single base substitution G A intron_variant PAEN-AU 12 130962383 130962383 single base substitution T G intron_variant PAEN-AU 12 130965805 130965805 single base substitution T C intron_variant PAEN-AU 12 130968955 130968955 single base substitution C A intron_variant PAEN-AU 12 130973117 130973117 single base substitution C G intron_variant PAEN-AU 12 130983545 130983545 single base substitution C T intron_variant PAEN-AU 12 130986703 130986703 single base substitution C G intron_variant PAEN-AU 12 130996654 130996654 single base substitution T C intron_variant PAEN-AU 12 131058336 131058336 single base substitution G T intron_variant PAEN-AU 12 131077370 131077370 single base substitution G C intron_variant PAEN-AU 12 131133490 131133490 single base substitution C T intron_variant PAEN-AU 12 131149051 131149051 single base substitution C A intron_variant PAEN-AU 12 131177435 131177435 single base substitution G A intron_variant PAEN-AU 12 131181245 131181245 single base substitution T A intron_variant PAEN-AU 12 131183676 131183676 single base substitution G T intron_variant PAEN-AU 12 131193928 131193928 single base substitution C A intron_variant PAEN-AU 12 131202163 131202163 single base substitution T G upstream_gene_variant PAEN-IT 12 130885513 130885513 single base substitution G T intron_variant PAEN-IT 12 130886081 130886081 single base substitution G T intron_variant PAEN-IT 12 130890178 130890178 single base substitution G T intron_variant PAEN-IT 12 130925385 130925385 single base substitution C G intron_variant PAEN-IT 12 130944313 130944313 single base substitution G C intron_variant PAEN-IT 12 130955565 130955565 single base substitution A G intron_variant PAEN-IT 12 131036107 131036107 single base substitution T G intron_variant PAEN-IT 12 131042047 131042047 single base substitution C T intron_variant PAEN-IT 12 131044079 131044079 single base substitution T G intron_variant PAEN-IT 12 131051347 131051347 single base substitution G C intron_variant PAEN-IT 12 131056748 131056748 single base substitution G T intron_variant PAEN-IT 12 131059343 131059343 single base substitution G A intron_variant PAEN-IT 12 131073050 131073050 single base substitution C A intron_variant PAEN-IT 12 131107769 131107769 single base substitution A T intron_variant PAEN-IT 12 131110896 131110896 single base substitution C T intron_variant PAEN-IT 12 131124418 131124418 single base substitution C A intron_variant PAEN-IT 12 131195381 131195381 single base substitution C A intron_variant PBCA-DE 12 130877764 130877765 deletion of <=200bp TG - downstream_gene_variant PBCA-DE 12 130879401 130879401 deletion of <=200bp G - downstream_gene_variant PBCA-DE 12 130879422 130879422 single base substitution T C downstream_gene_variant PBCA-DE 12 130890363 130890363 single base substitution T C intron_variant PBCA-DE 12 130898544 130898544 single base substitution G A intron_variant PBCA-DE 12 130903655 130903655 single base substitution G A intron_variant PBCA-DE 12 130903655 130903655 single base substitution G A upstream_gene_variant PBCA-DE 12 130910299 130910299 single base substitution C T intron_variant PBCA-DE 12 130910777 130910777 single base substitution G A intron_variant PBCA-DE 12 130921701 130921701 single base substitution C T missense_variant V489I 1465G>A PBCA-DE 12 130921701 130921701 single base substitution C T missense_variant V581I 1741G>A PBCA-DE 12 130921738 130921738 single base substitution G A synonymous_variant S476S 1428C>T PBCA-DE 12 130921738 130921738 single base substitution G A synonymous_variant S568S 1704C>T PBCA-DE 12 130930776 130930776 single base substitution A G intron_variant PBCA-DE 12 130932823 130932823 single base substitution G A intron_variant PBCA-DE 12 130939927 130939927 single base substitution G A intron_variant PBCA-DE 12 130941796 130941796 single base substitution G C intron_variant PBCA-DE 12 130959869 130959869 single base substitution C A intron_variant PBCA-DE 12 130961517 130961517 single base substitution T C intron_variant PBCA-DE 12 130962685 130962685 single base substitution G C intron_variant PBCA-DE 12 130964744 130964745 deletion of <=200bp AC - intron_variant PBCA-DE 12 130965643 130965643 deletion of <=200bp G - intron_variant PBCA-DE 12 130968408 130968408 single base substitution A G intron_variant PBCA-DE 12 130968424 130968424 single base substitution A G intron_variant PBCA-DE 12 130974804 130974804 deletion of <=200bp A - intron_variant PBCA-DE 12 130975277 130975277 single base substitution G A intron_variant PBCA-DE 12 130984692 130984692 single base substitution G A intron_variant PBCA-DE 12 130988161 130988161 single base substitution T C intron_variant PBCA-DE 12 130989071 130989071 single base substitution C T intron_variant PBCA-DE 12 130992473 130992473 single base substitution A G intron_variant PBCA-DE 12 130992473 130992473 single base substitution A G upstream_gene_variant PBCA-DE 12 130993434 130993434 single base substitution T C intron_variant PBCA-DE 12 130993434 130993434 single base substitution T C upstream_gene_variant PBCA-DE 12 130993481 130993481 single base substitution T G intron_variant PBCA-DE 12 130993481 130993481 single base substitution T G upstream_gene_variant PBCA-DE 12 131002508 131002508 single base substitution G T intron_variant PBCA-DE 12 131002508 131002508 single base substitution G T upstream_gene_variant PBCA-DE 12 131004423 131004423 insertion of <=200bp - A intron_variant PBCA-DE 12 131004423 131004423 insertion of <=200bp - A upstream_gene_variant PBCA-DE 12 131005025 131005025 single base substitution G T intron_variant PBCA-DE 12 131005025 131005025 single base substitution G T upstream_gene_variant PBCA-DE 12 131005049 131005049 insertion of <=200bp - AC intron_variant PBCA-DE 12 131005049 131005049 insertion of <=200bp - AC upstream_gene_variant PBCA-DE 12 131007674 131007675 deletion of <=200bp CT - intron_variant PBCA-DE 12 131016780 131016780 single base substitution G A intron_variant PBCA-DE 12 131016970 131016970 single base substitution G A intron_variant PBCA-DE 12 131016975 131016975 single base substitution C T intron_variant PBCA-DE 12 131017216 131017216 single base substitution G T intron_variant PBCA-DE 12 131017217 131017217 single base substitution G T intron_variant PBCA-DE 12 131017582 131017582 single base substitution G T intron_variant PBCA-DE 12 131018493 131018493 single base substitution T A intron_variant PBCA-DE 12 131019890 131019890 deletion of <=200bp A - intron_variant PBCA-DE 12 131020216 131020219 deletion of <=200bp ATAC - intron_variant PBCA-DE 12 131020230 131020231 deletion of <=200bp AC - intron_variant PBCA-DE 12 131021427 131021427 single base substitution G T intron_variant PBCA-DE 12 131021830 131021830 single base substitution C T intron_variant PBCA-DE 12 131024611 131024611 single base substitution C A intron_variant PBCA-DE 12 131026415 131026415 single base substitution G A intron_variant PBCA-DE 12 131030708 131030708 single base substitution G A intron_variant PBCA-DE 12 131043306 131043306 single base substitution T C intron_variant PBCA-DE 12 131050721 131050722 deletion of <=200bp CA - intron_variant PBCA-DE 12 131053926 131053926 single base substitution C T intron_variant PBCA-DE 12 131068804 131068804 single base substitution A G intron_variant PBCA-DE 12 131068901 131068906 deletion of <=200bp CACCAT - intron_variant PBCA-DE 12 131069006 131069006 single base substitution C T intron_variant PBCA-DE 12 131069445 131069445 insertion of <=200bp - T intron_variant PBCA-DE 12 131079718 131079718 single base substitution C G intron_variant PBCA-DE 12 131082616 131082616 single base substitution A T intron_variant PBCA-DE 12 131084491 131084491 single base substitution C T intron_variant PBCA-DE 12 131086501 131086501 single base substitution C T intron_variant PBCA-DE 12 131096101 131096101 single base substitution C T intron_variant PBCA-DE 12 131098327 131098327 single base substitution C T intron_variant PBCA-DE 12 131105879 131105879 single base substitution G A intron_variant PBCA-DE 12 131108320 131108320 single base substitution G T intron_variant PBCA-DE 12 131114169 131114169 single base substitution G A intron_variant PBCA-DE 12 131118383 131118383 single base substitution A C intron_variant PBCA-DE 12 131119540 131119540 single base substitution G A intron_variant PBCA-DE 12 131126798 131126798 single base substitution G A intron_variant PBCA-DE 12 131127594 131127594 single base substitution C T intron_variant PBCA-DE 12 131128521 131128521 single base substitution C A intron_variant PBCA-DE 12 131130929 131130929 single base substitution C T intron_variant PBCA-DE 12 131130952 131130952 single base substitution C T intron_variant PBCA-DE 12 131130982 131130982 single base substitution C G intron_variant PBCA-DE 12 131144356 131144356 deletion of <=200bp A - intron_variant PBCA-DE 12 131150295 131150296 deletion of <=200bp AC - intron_variant PBCA-DE 12 131154866 131154866 single base substitution C T intron_variant PBCA-DE 12 131155924 131155924 single base substitution A G intron_variant PBCA-DE 12 131159392 131159392 single base substitution C T intron_variant PBCA-DE 12 131161843 131161843 single base substitution A T intron_variant PBCA-DE 12 131165079 131165079 single base substitution G T intron_variant PBCA-DE 12 131167718 131167718 single base substitution G C intron_variant PBCA-DE 12 131171337 131171337 single base substitution C G intron_variant PBCA-DE 12 131171415 131171415 single base substitution G A intron_variant PBCA-DE 12 131175310 131175310 single base substitution G T intron_variant PBCA-DE 12 131175616 131175616 single base substitution C T intron_variant PBCA-DE 12 131176854 131176854 single base substitution C G intron_variant PBCA-DE 12 131177395 131177395 single base substitution A G intron_variant PBCA-DE 12 131177425 131177425 single base substitution G A intron_variant PBCA-DE 12 131177430 131177430 single base substitution G A intron_variant PBCA-DE 12 131177440 131177440 single base substitution A G intron_variant PBCA-DE 12 131179548 131179548 single base substitution G A intron_variant PBCA-DE 12 131194056 131194056 single base substitution G A intron_variant PBCA-DE 12 131201159 131201160 deletion of <=200bp CA - upstream_gene_variant PBCA-DE 12 131201355 131201355 single base substitution T C upstream_gene_variant PRAD-CA 12 130880155 130880155 single base substitution G T downstream_gene_variant PRAD-CA 12 130894532 130894532 single base substitution G A intron_variant PRAD-CA 12 130894532 130894532 single base substitution G A upstream_gene_variant PRAD-CA 12 130900525 130900525 single base substitution A C intron_variant PRAD-CA 12 130900525 130900525 single base substitution A C upstream_gene_variant PRAD-CA 12 130900606 130900606 single base substitution G T intron_variant PRAD-CA 12 130900606 130900606 single base substitution G T upstream_gene_variant PRAD-CA 12 130907579 130907579 single base substitution T G intron_variant PRAD-CA 12 130908860 130908860 single base substitution T A intron_variant PRAD-CA 12 130916652 130916652 single base substitution A T 3_prime_UTR_variant PRAD-CA 12 130916652 130916652 single base substitution A T intron_variant PRAD-CA 12 130917577 130917577 single base substitution G A intron_variant PRAD-CA 12 130935740 130935740 single base substitution G A splice_region_variant PRAD-CA 12 130944723 130944723 single base substitution G C intron_variant PRAD-CA 12 130949307 130949307 single base substitution G A intron_variant PRAD-CA 12 130955139 130955139 single base substitution C T exon_variant PRAD-CA 12 130955139 130955139 single base substitution C T intron_variant PRAD-CA 12 130959929 130959929 single base substitution G A intron_variant PRAD-CA 12 130965675 130965675 single base substitution G A intron_variant PRAD-CA 12 130982301 130982301 single base substitution G T intron_variant PRAD-CA 12 130985284 130985284 single base substitution C T intron_variant PRAD-CA 12 130992286 130992286 single base substitution C T intron_variant PRAD-CA 12 130992286 130992286 single base substitution C T upstream_gene_variant PRAD-CA 12 130993512 130993512 single base substitution C A intron_variant PRAD-CA 12 130993512 130993512 single base substitution C A upstream_gene_variant PRAD-CA 12 131011127 131011127 single base substitution G T intron_variant PRAD-CA 12 131015308 131015308 single base substitution A C intron_variant PRAD-CA 12 131016780 131016780 single base substitution G A intron_variant PRAD-CA 12 131016781 131016781 single base substitution T C intron_variant PRAD-CA 12 131016819 131016819 single base substitution T C intron_variant PRAD-CA 12 131017029 131017029 single base substitution C T intron_variant PRAD-CA 12 131017557 131017557 single base substitution T G intron_variant PRAD-CA 12 131025873 131025873 single base substitution G A intron_variant PRAD-CA 12 131032671 131032671 single base substitution G T intron_variant PRAD-CA 12 131034402 131034402 single base substitution C A intron_variant PRAD-CA 12 131038127 131038127 single base substitution G A intron_variant PRAD-CA 12 131046117 131046117 single base substitution G A intron_variant PRAD-CA 12 131047615 131047615 single base substitution G A intron_variant PRAD-CA 12 131051588 131051588 single base substitution C T intron_variant PRAD-CA 12 131052241 131052241 single base substitution C T intron_variant PRAD-CA 12 131061677 131061677 single base substitution C A intron_variant PRAD-CA 12 131062478 131062478 single base substitution C T intron_variant PRAD-CA 12 131068325 131068325 single base substitution G C intron_variant PRAD-CA 12 131069006 131069006 single base substitution C T intron_variant PRAD-CA 12 131070910 131070910 single base substitution T G intron_variant PRAD-CA 12 131075644 131075644 single base substitution A C intron_variant PRAD-CA 12 131077398 131077398 single base substitution C T intron_variant PRAD-CA 12 131080202 131080202 single base substitution C T intron_variant PRAD-CA 12 131099189 131099189 single base substitution C T intron_variant PRAD-CA 12 131134154 131134154 single base substitution G A intron_variant PRAD-CA 12 131142225 131142225 single base substitution G A intron_variant PRAD-CA 12 131145581 131145581 single base substitution T C intron_variant PRAD-CA 12 131145581 131145581 single base substitution T G intron_variant PRAD-CA 12 131152932 131152932 single base substitution C T intron_variant PRAD-CA 12 131162781 131162781 single base substitution G T intron_variant PRAD-CA 12 131163212 131163212 single base substitution G A intron_variant PRAD-CA 12 131165477 131165477 single base substitution C T intron_variant PRAD-CA 12 131166665 131166665 single base substitution C T intron_variant PRAD-CA 12 131176303 131176303 single base substitution C T intron_variant PRAD-CA 12 131177392 131177392 single base substitution G A intron_variant PRAD-CA 12 131177440 131177440 single base substitution A G intron_variant PRAD-CA 12 131180071 131180071 single base substitution G A intron_variant PRAD-CA 12 131180334 131180334 single base substitution G A intron_variant PRAD-CA 12 131190376 131190376 single base substitution G A intron_variant PRAD-CA 12 131197772 131197772 single base substitution A T intron_variant PRAD-UK 12 130877176 130877176 single base substitution C G downstream_gene_variant PRAD-UK 12 130877615 130877615 single base substitution G A downstream_gene_variant PRAD-UK 12 130878023 130878023 single base substitution C A downstream_gene_variant PRAD-UK 12 130885805 130885805 single base substitution C A intron_variant PRAD-UK 12 130893410 130893410 single base substitution A G intron_variant PRAD-UK 12 130893410 130893410 single base substitution A G upstream_gene_variant PRAD-UK 12 130896567 130896567 deletion of <=200bp C - intron_variant PRAD-UK 12 130896567 130896567 deletion of <=200bp C - upstream_gene_variant PRAD-UK 12 130898905 130898905 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PRAD-UK 12 130898905 130898905 single base substitution G A intron_variant PRAD-UK 12 130910481 130910481 single base substitution G T intron_variant PRAD-UK 12 130910501 130910501 single base substitution G A intron_variant PRAD-UK 12 130919155 130919155 single base substitution C T intron_variant PRAD-UK 12 130919940 130919940 single base substitution C T intron_variant PRAD-UK 12 130921333 130921333 single base substitution G A intron_variant PRAD-UK 12 130921395 130921395 single base substitution T A missense_variant S591C 1771A>T PRAD-UK 12 130921395 130921395 single base substitution T A missense_variant S683C 2047A>T PRAD-UK 12 130924872 130924872 single base substitution G T intron_variant PRAD-UK 12 130927318 130927318 single base substitution C T intron_variant PRAD-UK 12 130930549 130930549 single base substitution C T intron_variant PRAD-UK 12 130931342 130931342 single base substitution C T intron_variant PRAD-UK 12 130940207 130940207 single base substitution A T intron_variant PRAD-UK 12 130946122 130946122 single base substitution G A intron_variant PRAD-UK 12 130948321 130948321 single base substitution G C intron_variant PRAD-UK 12 130950181 130950181 single base substitution C T downstream_gene_variant PRAD-UK 12 130950181 130950181 single base substitution C T intron_variant PRAD-UK 12 130950813 130950813 single base substitution C T downstream_gene_variant PRAD-UK 12 130950813 130950813 single base substitution C T intron_variant PRAD-UK 12 130952463 130952463 single base substitution G T downstream_gene_variant PRAD-UK 12 130952463 130952463 single base substitution G T intron_variant PRAD-UK 12 130954569 130954569 single base substitution C A downstream_gene_variant PRAD-UK 12 130954569 130954569 single base substitution C A intron_variant PRAD-UK 12 130954589 130954589 single base substitution G A downstream_gene_variant PRAD-UK 12 130954589 130954589 single base substitution G A intron_variant PRAD-UK 12 130955824 130955824 single base substitution A G intron_variant PRAD-UK 12 130958408 130958408 single base substitution A G intron_variant PRAD-UK 12 130959398 130959398 single base substitution C T intron_variant PRAD-UK 12 130959748 130959748 single base substitution C T intron_variant PRAD-UK 12 130961759 130961759 single base substitution C T intron_variant PRAD-UK 12 130972425 130972425 single base substitution C A intron_variant PRAD-UK 12 130986858 130986858 single base substitution T G intron_variant PRAD-UK 12 130992094 130992094 single base substitution G T intron_variant PRAD-UK 12 130992094 130992094 single base substitution G T upstream_gene_variant PRAD-UK 12 130997699 130997699 single base substitution C A intron_variant PRAD-UK 12 131000209 131000209 single base substitution T C intron_variant PRAD-UK 12 131006621 131006621 single base substitution G A intron_variant PRAD-UK 12 131006621 131006621 single base substitution G A upstream_gene_variant PRAD-UK 12 131008332 131008332 single base substitution A T intron_variant PRAD-UK 12 131009966 131009966 single base substitution G A intron_variant PRAD-UK 12 131014778 131014778 single base substitution C T intron_variant PRAD-UK 12 131016588 131016588 single base substitution G A intron_variant PRAD-UK 12 131017293 131017293 single base substitution T G intron_variant PRAD-UK 12 131018027 131018027 single base substitution G A intron_variant PRAD-UK 12 131022704 131022704 single base substitution C T intron_variant PRAD-UK 12 131025001 131025001 single base substitution T C intron_variant PRAD-UK 12 131027714 131027714 single base substitution C G intron_variant PRAD-UK 12 131027715 131027715 single base substitution A G intron_variant PRAD-UK 12 131030178 131030178 single base substitution C A intron_variant PRAD-UK 12 131033456 131033456 single base substitution G A intron_variant PRAD-UK 12 131040260 131040260 single base substitution C T intron_variant PRAD-UK 12 131054214 131054214 single base substitution G A intron_variant PRAD-UK 12 131065560 131065560 insertion of <=200bp - T intron_variant PRAD-UK 12 131069007 131069097 deletion of <=200bp CACCATCACCTCATTGCCATCACCACCATCACATCACCACCATCACCTCATCACCACCATCACCTCATCACCACCATCACCACCATCACAT - intron_variant PRAD-UK 12 131073848 131073848 single base substitution C T intron_variant PRAD-UK 12 131075877 131075877 single base substitution C T intron_variant PRAD-UK 12 131077340 131077340 single base substitution G A intron_variant PRAD-UK 12 131077363 131077363 single base substitution C A intron_variant PRAD-UK 12 131078131 131078131 single base substitution C T intron_variant PRAD-UK 12 131079107 131079107 single base substitution G T intron_variant PRAD-UK 12 131086236 131086236 deletion of <=200bp G - intron_variant PRAD-UK 12 131088730 131088730 single base substitution T A intron_variant PRAD-UK 12 131094567 131094567 insertion of <=200bp - A intron_variant PRAD-UK 12 131095197 131095197 single base substitution C T intron_variant PRAD-UK 12 131096063 131096063 single base substitution G A intron_variant PRAD-UK 12 131100408 131100408 single base substitution C T intron_variant PRAD-UK 12 131105225 131105225 single base substitution C G intron_variant PRAD-UK 12 131115286 131115286 single base substitution C T intron_variant PRAD-UK 12 131115525 131115525 single base substitution C A intron_variant PRAD-UK 12 131116639 131116639 single base substitution C G intron_variant PRAD-UK 12 131117487 131117487 single base substitution C A intron_variant PRAD-UK 12 131117830 131117830 single base substitution T C intron_variant PRAD-UK 12 131127155 131127155 single base substitution A C intron_variant PRAD-UK 12 131133809 131133809 single base substitution G A intron_variant PRAD-UK 12 131152621 131152621 single base substitution C T intron_variant PRAD-UK 12 131159820 131159820 single base substitution G T intron_variant PRAD-UK 12 131173512 131173512 single base substitution T C intron_variant PRAD-UK 12 131173807 131173807 single base substitution G A intron_variant PRAD-UK 12 131176472 131176472 single base substitution C T intron_variant PRAD-UK 12 131185816 131185816 single base substitution G A intron_variant PRAD-UK 12 131188566 131188566 single base substitution G A intron_variant PRAD-UK 12 131192088 131192088 single base substitution G A intron_variant PRAD-UK 12 131196886 131196886 single base substitution A T intron_variant PRAD-US 12 130919341 130919341 single base substitution C A missense_variant D622Y 1864G>T PRAD-US 12 130919341 130919341 single base substitution C A missense_variant D714Y 2140G>T PRAD-US 12 130921640 130921640 single base substitution G T missense_variant P509Q 1526C>A PRAD-US 12 130921640 130921640 single base substitution G T missense_variant P601Q 1802C>A PRAD-US 12 130935764 130935764 single base substitution G A synonymous_variant S143S 429C>T PRAD-US 12 130935764 130935764 single base substitution G A synonymous_variant S51S 153C>T READ-US 12 130884319 130884319 single base substitution A G 3_prime_UTR_variant READ-US 12 130884319 130884319 single base substitution A G missense_variant F1013L 3037T>C READ-US 12 130884319 130884319 single base substitution A G missense_variant F150L 448T>C READ-US 12 130892274 130892274 single base substitution G A exon_variant READ-US 12 130892274 130892274 single base substitution G A synonymous_variant V111V 333C>T READ-US 12 130892274 130892274 single base substitution G A synonymous_variant V974V 2922C>T READ-US 12 130898786 130898786 single base substitution C T 5_prime_UTR_variant READ-US 12 130898786 130898786 single base substitution C T missense_variant E846K 2536G>A READ-US 12 130898839 130898839 single base substitution C T 5_prime_UTR_variant READ-US 12 130898839 130898839 single base substitution C T missense_variant R828Q 2483G>A READ-US 12 130898850 130898850 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant READ-US 12 130898850 130898850 single base substitution G A splice_region_variant READ-US 12 130907079 130907079 single base substitution G A missense_variant R797W 2389C>T READ-US 12 130919378 130919378 single base substitution G A synonymous_variant Y609Y 1827C>T READ-US 12 130919378 130919378 single base substitution G A synonymous_variant Y701Y 2103C>T READ-US 12 130926460 130926460 single base substitution C T synonymous_variant P370P 1110G>A READ-US 12 130926460 130926460 single base substitution C T synonymous_variant P462P 1386G>A READ-US 12 130926553 130926553 single base substitution G A synonymous_variant I339I 1017C>T READ-US 12 130926553 130926553 single base substitution G A synonymous_variant I431I 1293C>T READ-US 12 130927120 130927120 single base substitution C T synonymous_variant T150T 450G>A READ-US 12 130927120 130927120 single base substitution C T synonymous_variant T242T 726G>A RECA-EU 12 130875791 130875791 single base substitution C G downstream_gene_variant RECA-EU 12 130882106 130882106 single base substitution A T 3_prime_UTR_variant RECA-EU 12 130882106 130882106 single base substitution A T downstream_gene_variant RECA-EU 12 130882106 130882106 single base substitution A T intron_variant RECA-EU 12 130883509 130883509 single base substitution T A 3_prime_UTR_variant RECA-EU 12 130883509 130883509 single base substitution T A downstream_gene_variant RECA-EU 12 130883509 130883509 single base substitution T A intron_variant RECA-EU 12 130890039 130890039 single base substitution G T intron_variant RECA-EU 12 130894957 130894957 single base substitution T C intron_variant RECA-EU 12 130894957 130894957 single base substitution T C upstream_gene_variant RECA-EU 12 130901794 130901794 single base substitution A T intron_variant RECA-EU 12 130901794 130901794 single base substitution A T upstream_gene_variant RECA-EU 12 130906230 130906230 single base substitution A T intron_variant RECA-EU 12 130912414 130912414 single base substitution T A downstream_gene_variant RECA-EU 12 130912414 130912414 single base substitution T A intron_variant RECA-EU 12 130914785 130914785 single base substitution G A downstream_gene_variant RECA-EU 12 130914785 130914785 single base substitution G A intron_variant RECA-EU 12 130923875 130923875 single base substitution T C intron_variant RECA-EU 12 130928350 130928350 single base substitution A G intron_variant RECA-EU 12 130938040 130938040 single base substitution C A intron_variant RECA-EU 12 130939894 130939894 single base substitution C A intron_variant RECA-EU 12 130939997 130939997 single base substitution G C intron_variant RECA-EU 12 130942163 130942163 single base substitution C T intron_variant RECA-EU 12 130947790 130947790 single base substitution G T intron_variant RECA-EU 12 130949447 130949447 single base substitution A G intron_variant RECA-EU 12 130953995 130953995 single base substitution C A downstream_gene_variant RECA-EU 12 130953995 130953995 single base substitution C A intron_variant RECA-EU 12 130954027 130954027 single base substitution G A downstream_gene_variant RECA-EU 12 130954027 130954027 single base substitution G A intron_variant RECA-EU 12 130957396 130957396 single base substitution C T intron_variant RECA-EU 12 130958234 130958234 single base substitution G C intron_variant RECA-EU 12 130959407 130959407 single base substitution C A intron_variant RECA-EU 12 130961234 130961234 single base substitution G C intron_variant RECA-EU 12 130963656 130963656 single base substitution G A intron_variant RECA-EU 12 130965078 130965078 single base substitution T A intron_variant RECA-EU 12 130967035 130967035 single base substitution T C intron_variant RECA-EU 12 130970195 130970195 single base substitution C G intron_variant RECA-EU 12 130971447 130971447 single base substitution C A intron_variant RECA-EU 12 130971496 130971496 single base substitution T A intron_variant RECA-EU 12 130973699 130973699 single base substitution T A intron_variant RECA-EU 12 130974905 130974905 single base substitution T A intron_variant RECA-EU 12 130976081 130976081 single base substitution T C intron_variant RECA-EU 12 130980798 130980798 single base substitution T A intron_variant RECA-EU 12 130986889 130986889 single base substitution C T intron_variant RECA-EU 12 130992163 130992163 single base substitution C T intron_variant RECA-EU 12 130992163 130992163 single base substitution C T upstream_gene_variant RECA-EU 12 130992812 130992812 single base substitution C A intron_variant RECA-EU 12 130992812 130992812 single base substitution C A upstream_gene_variant RECA-EU 12 130999761 130999761 single base substitution A T intron_variant RECA-EU 12 131006415 131006415 single base substitution G A intron_variant RECA-EU 12 131006415 131006415 single base substitution G A upstream_gene_variant RECA-EU 12 131011682 131011682 single base substitution G T intron_variant RECA-EU 12 131013248 131013248 single base substitution T C intron_variant RECA-EU 12 131021108 131021108 single base substitution A T intron_variant RECA-EU 12 131032499 131032499 single base substitution T A intron_variant RECA-EU 12 131044364 131044364 single base substitution G T intron_variant RECA-EU 12 131049136 131049136 single base substitution T A intron_variant RECA-EU 12 131050327 131050327 single base substitution G A intron_variant RECA-EU 12 131052005 131052005 single base substitution G A intron_variant RECA-EU 12 131054142 131054142 single base substitution C T intron_variant RECA-EU 12 131054512 131054512 single base substitution C T intron_variant RECA-EU 12 131055340 131055340 single base substitution A C intron_variant RECA-EU 12 131057448 131057448 single base substitution G T intron_variant RECA-EU 12 131068802 131068802 single base substitution C T intron_variant RECA-EU 12 131068804 131068804 single base substitution A G intron_variant RECA-EU 12 131069848 131069848 single base substitution C T intron_variant RECA-EU 12 131071044 131071044 single base substitution A T intron_variant RECA-EU 12 131082938 131082938 single base substitution C A intron_variant RECA-EU 12 131083649 131083649 single base substitution A T intron_variant RECA-EU 12 131084390 131084390 single base substitution C T intron_variant RECA-EU 12 131088806 131088806 single base substitution A C intron_variant RECA-EU 12 131089518 131089518 single base substitution A G intron_variant RECA-EU 12 131092789 131092789 single base substitution A T intron_variant RECA-EU 12 131100226 131100226 single base substitution G C intron_variant RECA-EU 12 131107343 131107343 single base substitution A T intron_variant RECA-EU 12 131109873 131109873 single base substitution G C intron_variant RECA-EU 12 131113057 131113057 single base substitution C T intron_variant RECA-EU 12 131115934 131115934 single base substitution C A intron_variant RECA-EU 12 131120205 131120205 single base substitution G T intron_variant RECA-EU 12 131124724 131124724 single base substitution C T intron_variant RECA-EU 12 131125502 131125502 single base substitution G C intron_variant RECA-EU 12 131126594 131126594 single base substitution A G intron_variant RECA-EU 12 131134459 131134459 single base substitution C A intron_variant RECA-EU 12 131137485 131137485 single base substitution G A intron_variant RECA-EU 12 131141879 131141879 single base substitution C A intron_variant RECA-EU 12 131144801 131144801 single base substitution G T intron_variant RECA-EU 12 131153767 131153767 single base substitution G T intron_variant RECA-EU 12 131156815 131156815 single base substitution T A intron_variant RECA-EU 12 131163224 131163224 single base substitution A T intron_variant RECA-EU 12 131166129 131166129 single base substitution A T intron_variant RECA-EU 12 131167816 131167816 single base substitution C A intron_variant RECA-EU 12 131173054 131173054 single base substitution T C intron_variant RECA-EU 12 131173962 131173962 single base substitution G A intron_variant RECA-EU 12 131179718 131179718 single base substitution A G intron_variant RECA-EU 12 131187092 131187092 single base substitution A G intron_variant RECA-EU 12 131188415 131188415 single base substitution G T intron_variant RECA-EU 12 131194604 131194604 single base substitution G A intron_variant RECA-EU 12 131194893 131194893 single base substitution C A intron_variant RECA-EU 12 131197108 131197108 single base substitution C T intron_variant SKCA-BR 12 130875949 130875949 single base substitution G A downstream_gene_variant SKCA-BR 12 130876803 130876803 single base substitution G A downstream_gene_variant SKCA-BR 12 130877405 130877405 single base substitution G C downstream_gene_variant SKCA-BR 12 130877406 130877408 deletion of <=200bp TCC - downstream_gene_variant SKCA-BR 12 130878486 130878486 single base substitution G A downstream_gene_variant SKCA-BR 12 130879200 130879200 single base substitution G A downstream_gene_variant SKCA-BR 12 130879359 130879395 deletion of <=200bp TTATGTGCATGAGAAGTAACTGCAAAACGAAATTTGG - downstream_gene_variant SKCA-BR 12 130879400 130879401 deletion of <=200bp AG - downstream_gene_variant SKCA-BR 12 130879402 130879402 single base substitution T A downstream_gene_variant SKCA-BR 12 130880558 130880558 insertion of <=200bp - GAA downstream_gene_variant SKCA-BR 12 130881407 130881407 single base substitution C A 3_prime_UTR_variant SKCA-BR 12 130881407 130881407 single base substitution C A downstream_gene_variant SKCA-BR 12 130883780 130883780 single base substitution G A downstream_gene_variant SKCA-BR 12 130883780 130883780 single base substitution G A intron_variant SKCA-BR 12 130886986 130886986 single base substitution C T intron_variant SKCA-BR 12 130887125 130887125 single base substitution C T intron_variant SKCA-BR 12 130887616 130887616 single base substitution G A intron_variant SKCA-BR 12 130887807 130887807 single base substitution A G intron_variant SKCA-BR 12 130888092 130888092 single base substitution C T intron_variant SKCA-BR 12 130888422 130888422 single base substitution A T intron_variant SKCA-BR 12 130890106 130890106 single base substitution C T intron_variant SKCA-BR 12 130893858 130893858 single base substitution G A intron_variant SKCA-BR 12 130893858 130893858 single base substitution G A upstream_gene_variant SKCA-BR 12 130894893 130894893 single base substitution T G intron_variant SKCA-BR 12 130894893 130894893 single base substitution T G upstream_gene_variant SKCA-BR 12 130896173 130896173 single base substitution G A intron_variant SKCA-BR 12 130896173 130896173 single base substitution G A upstream_gene_variant SKCA-BR 12 130897150 130897150 single base substitution G A intron_variant SKCA-BR 12 130897150 130897150 single base substitution G A upstream_gene_variant SKCA-BR 12 130898308 130898308 single base substitution C T intron_variant SKCA-BR 12 130898310 130898310 single base substitution C T intron_variant SKCA-BR 12 130898527 130898527 single base substitution C T intron_variant SKCA-BR 12 130898624 130898624 single base substitution C T intron_variant SKCA-BR 12 130898920 130898920 single base substitution A C 5_prime_UTR_variant SKCA-BR 12 130898920 130898920 single base substitution A C intron_variant SKCA-BR 12 130899404 130899404 single base substitution G A intron_variant SKCA-BR 12 130899404 130899404 single base substitution G A upstream_gene_variant SKCA-BR 12 130900171 130900171 single base substitution T C intron_variant SKCA-BR 12 130900171 130900171 single base substitution T C upstream_gene_variant SKCA-BR 12 130900173 130900173 single base substitution C A intron_variant SKCA-BR 12 130900173 130900173 single base substitution C A upstream_gene_variant SKCA-BR 12 130900205 130900205 single base substitution C A intron_variant SKCA-BR 12 130900205 130900205 single base substitution C A upstream_gene_variant SKCA-BR 12 130900223 130900223 single base substitution C T intron_variant SKCA-BR 12 130900223 130900223 single base substitution C T upstream_gene_variant SKCA-BR 12 130900243 130900243 single base substitution T C intron_variant SKCA-BR 12 130900243 130900243 single base substitution T C upstream_gene_variant SKCA-BR 12 130901730 130901730 single base substitution G A intron_variant SKCA-BR 12 130901730 130901730 single base substitution G A upstream_gene_variant SKCA-BR 12 130904173 130904173 single base substitution C T intron_variant SKCA-BR 12 130904173 130904173 single base substitution C T upstream_gene_variant SKCA-BR 12 130904844 130904844 single base substitution C T intron_variant SKCA-BR 12 130905033 130905033 single base substitution A G intron_variant SKCA-BR 12 130905911 130905911 single base substitution G A intron_variant SKCA-BR 12 130906157 130906157 single base substitution C T intron_variant SKCA-BR 12 130906234 130906234 insertion of <=200bp - ATGTGTGTGTGTG intron_variant SKCA-BR 12 130908164 130908164 single base substitution G A intron_variant SKCA-BR 12 130908232 130908232 single base substitution C T intron_variant SKCA-BR 12 130908807 130908807 single base substitution C T intron_variant SKCA-BR 12 130909106 130909106 single base substitution C A intron_variant SKCA-BR 12 130909776 130909776 single base substitution C G intron_variant SKCA-BR 12 130910232 130910232 single base substitution C T intron_variant SKCA-BR 12 130911080 130911080 single base substitution C T intron_variant SKCA-BR 12 130912057 130912057 single base substitution G A downstream_gene_variant SKCA-BR 12 130912057 130912057 single base substitution G A intron_variant SKCA-BR 12 130912497 130912497 single base substitution G A downstream_gene_variant SKCA-BR 12 130912497 130912497 single base substitution G A intron_variant SKCA-BR 12 130912511 130912511 single base substitution C T downstream_gene_variant SKCA-BR 12 130912511 130912511 single base substitution C T intron_variant SKCA-BR 12 130913116 130913116 single base substitution C A downstream_gene_variant SKCA-BR 12 130913116 130913116 single base substitution C A intron_variant SKCA-BR 12 130914950 130914950 single base substitution G A downstream_gene_variant SKCA-BR 12 130914950 130914950 single base substitution G A intron_variant SKCA-BR 12 130914957 130914957 single base substitution G A downstream_gene_variant SKCA-BR 12 130914957 130914957 single base substitution G A intron_variant SKCA-BR 12 130918000 130918000 single base substitution C T intron_variant SKCA-BR 12 130919328 130919328 single base substitution C T missense_variant R626K 1877G>A SKCA-BR 12 130919328 130919328 single base substitution C T missense_variant R718K 2153G>A SKCA-BR 12 130919699 130919699 single base substitution T C intron_variant SKCA-BR 12 130920609 130920609 single base substitution G A intron_variant SKCA-BR 12 130921034 130921034 single base substitution G A intron_variant SKCA-BR 12 130922036 130922036 single base substitution C T intron_variant SKCA-BR 12 130922908 130922908 single base substitution A C splice_donor_variant SKCA-BR 12 130923516 130923516 single base substitution C T intron_variant SKCA-BR 12 130925953 130925953 insertion of <=200bp - AATAATC intron_variant SKCA-BR 12 130926130 130926130 single base substitution C T intron_variant SKCA-BR 12 130927791 130927791 insertion of <=200bp - CAAA intron_variant SKCA-BR 12 130927791 130927792 deletion of <=200bp CA - intron_variant SKCA-BR 12 130927890 130927890 single base substitution C T intron_variant SKCA-BR 12 130928994 130928994 single base substitution C T intron_variant SKCA-BR 12 130929714 130929714 single base substitution A C missense_variant F119V 355T>G SKCA-BR 12 130929714 130929714 single base substitution A C missense_variant F211V 631T>G SKCA-BR 12 130929750 130929750 single base substitution A T missense_variant Y107N 319T>A SKCA-BR 12 130929750 130929750 single base substitution A T missense_variant Y199N 595T>A SKCA-BR 12 130930420 130930420 single base substitution A G intron_variant SKCA-BR 12 130931103 130931103 insertion of <=200bp - ACCCAGCAGGTCAG intron_variant SKCA-BR 12 130931694 130931694 single base substitution C T intron_variant SKCA-BR 12 130932325 130932325 single base substitution C T intron_variant SKCA-BR 12 130935194 130935194 single base substitution C T intron_variant SKCA-BR 12 130935347 130935347 single base substitution T C intron_variant SKCA-BR 12 130935782 130935782 single base substitution G A synonymous_variant F137F 411C>T SKCA-BR 12 130935782 130935782 single base substitution G A synonymous_variant F45F 135C>T SKCA-BR 12 130936540 130936540 single base substitution C T intron_variant SKCA-BR 12 130936651 130936651 single base substitution G A intron_variant SKCA-BR 12 130937691 130937691 single base substitution G A intron_variant SKCA-BR 12 130938056 130938056 single base substitution G A intron_variant SKCA-BR 12 130938248 130938248 single base substitution G A intron_variant SKCA-BR 12 130939083 130939083 single base substitution C T intron_variant SKCA-BR 12 130940185 130940185 single base substitution C T intron_variant SKCA-BR 12 130940565 130940565 single base substitution T C intron_variant SKCA-BR 12 130941081 130941081 single base substitution G A 5_prime_UTR_variant SKCA-BR 12 130941081 130941081 single base substitution G A synonymous_variant F89F 267C>T SKCA-BR 12 130941755 130941755 single base substitution C T intron_variant SKCA-BR 12 130942256 130942256 single base substitution C G intron_variant SKCA-BR 12 130943146 130943146 single base substitution G A intron_variant SKCA-BR 12 130943624 130943624 single base substitution C T intron_variant SKCA-BR 12 130945326 130945326 single base substitution C T intron_variant SKCA-BR 12 130946164 130946164 single base substitution T G intron_variant SKCA-BR 12 130948869 130948869 single base substitution A C intron_variant SKCA-BR 12 130950945 130950945 single base substitution G A downstream_gene_variant SKCA-BR 12 130950945 130950945 single base substitution G A intron_variant SKCA-BR 12 130951137 130951137 single base substitution C T downstream_gene_variant SKCA-BR 12 130951137 130951137 single base substitution C T intron_variant SKCA-BR 12 130951842 130951842 single base substitution C T downstream_gene_variant SKCA-BR 12 130951842 130951842 single base substitution C T intron_variant SKCA-BR 12 130952069 130952069 single base substitution A C downstream_gene_variant SKCA-BR 12 130952069 130952069 single base substitution A C intron_variant SKCA-BR 12 130952580 130952580 single base substitution C T downstream_gene_variant SKCA-BR 12 130952580 130952580 single base substitution C T intron_variant SKCA-BR 12 130953488 130953488 single base substitution G A downstream_gene_variant SKCA-BR 12 130953488 130953488 single base substitution G A intron_variant SKCA-BR 12 130954206 130954206 single base substitution C T downstream_gene_variant SKCA-BR 12 130954206 130954206 single base substitution C T intron_variant SKCA-BR 12 130955663 130955663 single base substitution C T intron_variant SKCA-BR 12 130956397 130956397 single base substitution T G 5_prime_UTR_variant SKCA-BR 12 130956397 130956397 single base substitution T G intron_variant SKCA-BR 12 130956599 130956599 single base substitution T G 5_prime_UTR_variant SKCA-BR 12 130956599 130956599 single base substitution T G intron_variant SKCA-BR 12 130957079 130957079 single base substitution C T intron_variant SKCA-BR 12 130957523 130957523 single base substitution C A intron_variant SKCA-BR 12 130958282 130958282 single base substitution A C intron_variant SKCA-BR 12 130959864 130959864 single base substitution G A intron_variant SKCA-BR 12 130962475 130962475 single base substitution G A intron_variant SKCA-BR 12 130963206 130963206 single base substitution C T intron_variant SKCA-BR 12 130963624 130963624 single base substitution T C intron_variant SKCA-BR 12 130963765 130963765 single base substitution G C intron_variant SKCA-BR 12 130964131 130964131 single base substitution C T intron_variant SKCA-BR 12 130964152 130964152 single base substitution C T intron_variant SKCA-BR 12 130964743 130964743 insertion of <=200bp - TACAC intron_variant SKCA-BR 12 130964743 130964753 deletion of <=200bp TACACACACAC - intron_variant SKCA-BR 12 130964772 130964782 deletion of <=200bp ACACACACACC - intron_variant SKCA-BR 12 130965640 130965640 single base substitution G A intron_variant SKCA-BR 12 130966653 130966653 single base substitution C T intron_variant SKCA-BR 12 130967401 130967401 single base substitution A C intron_variant SKCA-BR 12 130967587 130967587 single base substitution A C intron_variant SKCA-BR 12 130967722 130967722 single base substitution C T intron_variant SKCA-BR 12 130967840 130967840 single base substitution C T intron_variant SKCA-BR 12 130968473 130968473 single base substitution T C intron_variant SKCA-BR 12 130968780 130968780 single base substitution T C intron_variant SKCA-BR 12 130969014 130969014 single base substitution T C intron_variant SKCA-BR 12 130969780 130969780 single base substitution C T intron_variant SKCA-BR 12 130969912 130969912 single base substitution G A intron_variant SKCA-BR 12 130970741 130970741 single base substitution C T intron_variant SKCA-BR 12 130973861 130973861 single base substitution T C intron_variant SKCA-BR 12 130974048 130974048 single base substitution A G intron_variant SKCA-BR 12 130974349 130974349 single base substitution G A intron_variant SKCA-BR 12 130975191 130975191 single base substitution G A intron_variant SKCA-BR 12 130975421 130975421 single base substitution G A intron_variant SKCA-BR 12 130976171 130976171 single base substitution C T intron_variant SKCA-BR 12 130976673 130976673 single base substitution G A intron_variant SKCA-BR 12 130978779 130978779 single base substitution A C intron_variant SKCA-BR 12 130979183 130979183 insertion of <=200bp - CAA intron_variant SKCA-BR 12 130980195 130980195 single base substitution G T intron_variant SKCA-BR 12 130980299 130980299 single base substitution A C intron_variant SKCA-BR 12 130980977 130980977 single base substitution A C intron_variant SKCA-BR 12 130981564 130981564 single base substitution C T intron_variant SKCA-BR 12 130983622 130983622 single base substitution G A intron_variant SKCA-BR 12 130983653 130983653 single base substitution G A intron_variant SKCA-BR 12 130985156 130985156 single base substitution A T intron_variant SKCA-BR 12 130986037 130986037 single base substitution C T intron_variant SKCA-BR 12 130986224 130986224 single base substitution G A intron_variant SKCA-BR 12 130986269 130986269 single base substitution C T intron_variant SKCA-BR 12 130986404 130986404 single base substitution G A intron_variant SKCA-BR 12 130987439 130987439 single base substitution G A intron_variant SKCA-BR 12 130987777 130987777 insertion of <=200bp - CAA intron_variant SKCA-BR 12 130989769 130989769 single base substitution G A intron_variant SKCA-BR 12 130990857 130990857 single base substitution A C intron_variant SKCA-BR 12 130991065 130991065 single base substitution C T intron_variant SKCA-BR 12 130991632 130991632 single base substitution G A intron_variant SKCA-BR 12 130991632 130991632 single base substitution G A upstream_gene_variant SKCA-BR 12 130993285 130993285 single base substitution C T intron_variant SKCA-BR 12 130993285 130993285 single base substitution C T upstream_gene_variant SKCA-BR 12 130993434 130993434 single base substitution T C intron_variant SKCA-BR 12 130993434 130993434 single base substitution T C upstream_gene_variant SKCA-BR 12 130996045 130996045 single base substitution C T intron_variant SKCA-BR 12 130996045 130996045 single base substitution C T upstream_gene_variant SKCA-BR 12 130996864 130996864 single base substitution C T intron_variant SKCA-BR 12 130997018 130997018 single base substitution C T intron_variant SKCA-BR 12 130997254 130997254 single base substitution G A intron_variant SKCA-BR 12 130997653 130997653 single base substitution G A intron_variant SKCA-BR 12 130998469 130998469 single base substitution T G intron_variant SKCA-BR 12 130998714 130998714 single base substitution C A intron_variant SKCA-BR 12 130999691 130999691 single base substitution G A intron_variant SKCA-BR 12 131000284 131000284 single base substitution C T intron_variant SKCA-BR 12 131000409 131000409 single base substitution A C intron_variant SKCA-BR 12 131001092 131001092 single base substitution G T intron_variant SKCA-BR 12 131001972 131001972 single base substitution G A intron_variant SKCA-BR 12 131002061 131002061 single base substitution G A intron_variant SKCA-BR 12 131002583 131002583 single base substitution C A intron_variant SKCA-BR 12 131002583 131002583 single base substitution C A upstream_gene_variant SKCA-BR 12 131003039 131003039 single base substitution G T intron_variant SKCA-BR 12 131003039 131003039 single base substitution G T upstream_gene_variant SKCA-BR 12 131003325 131003325 single base substitution G A intron_variant SKCA-BR 12 131003325 131003325 single base substitution G A upstream_gene_variant SKCA-BR 12 131003693 131003693 single base substitution G A intron_variant SKCA-BR 12 131003693 131003693 single base substitution G A upstream_gene_variant SKCA-BR 12 131003966 131003966 single base substitution G A intron_variant SKCA-BR 12 131003966 131003966 single base substitution G A upstream_gene_variant SKCA-BR 12 131004158 131004158 single base substitution G A intron_variant SKCA-BR 12 131004158 131004158 single base substitution G A upstream_gene_variant SKCA-BR 12 131004175 131004175 single base substitution G A intron_variant SKCA-BR 12 131004175 131004175 single base substitution G A upstream_gene_variant SKCA-BR 12 131006414 131006414 single base substitution C T intron_variant SKCA-BR 12 131006414 131006414 single base substitution C T upstream_gene_variant SKCA-BR 12 131006619 131006619 single base substitution G A intron_variant SKCA-BR 12 131006619 131006619 single base substitution G A upstream_gene_variant SKCA-BR 12 131007893 131007893 single base substitution C T intron_variant SKCA-BR 12 131008463 131008463 single base substitution A G intron_variant SKCA-BR 12 131008745 131008745 single base substitution C T intron_variant SKCA-BR 12 131008858 131008895 deletion of <=200bp TGAGCCAGGCCAGATTCCCAGTGGCCTCAAGCAGAGCC - intron_variant SKCA-BR 12 131009182 131009182 single base substitution A T intron_variant SKCA-BR 12 131009320 131009320 single base substitution A G intron_variant SKCA-BR 12 131010621 131010621 single base substitution G A intron_variant SKCA-BR 12 131011856 131011856 single base substitution C T intron_variant SKCA-BR 12 131012184 131012184 single base substitution A G intron_variant SKCA-BR 12 131013396 131013396 single base substitution C T intron_variant SKCA-BR 12 131013788 131013788 single base substitution G A intron_variant SKCA-BR 12 131016265 131016265 single base substitution G A intron_variant SKCA-BR 12 131016313 131016313 single base substitution G A intron_variant SKCA-BR 12 131016362 131016362 single base substitution C T intron_variant SKCA-BR 12 131016707 131016707 single base substitution T A intron_variant SKCA-BR 12 131016819 131016819 single base substitution T C intron_variant SKCA-BR 12 131016989 131016989 single base substitution G T intron_variant SKCA-BR 12 131017174 131017174 single base substitution G A intron_variant SKCA-BR 12 131017407 131017407 single base substitution G T intron_variant SKCA-BR 12 131017426 131017426 single base substitution A G intron_variant SKCA-BR 12 131017557 131017557 single base substitution T G intron_variant SKCA-BR 12 131017904 131017904 single base substitution C T intron_variant SKCA-BR 12 131018121 131018121 single base substitution A T intron_variant SKCA-BR 12 131018266 131018266 single base substitution T C intron_variant SKCA-BR 12 131018725 131018728 deletion of <=200bp AAAG - intron_variant SKCA-BR 12 131018727 131018728 deletion of <=200bp AG - intron_variant SKCA-BR 12 131019136 131019136 single base substitution C T intron_variant SKCA-BR 12 131019300 131019300 single base substitution C T intron_variant SKCA-BR 12 131019889 131019889 insertion of <=200bp - TA intron_variant SKCA-BR 12 131019889 131019890 deletion of <=200bp TA - intron_variant SKCA-BR 12 131020273 131020297 deletion of <=200bp CATATATATACATATATATATATAT - intron_variant SKCA-BR 12 131020273 131020299 deletion of <=200bp CATATATATACATATATATATATATAT - intron_variant SKCA-BR 12 131020273 131020301 deletion of <=200bp CATATATATACATATATATATATATATAT - intron_variant SKCA-BR 12 131020273 131020311 deletion of <=200bp CATATATATACATATATATATATATATATATATATATAT - intron_variant SKCA-BR 12 131020311 131020311 single base substitution T C intron_variant SKCA-BR 12 131020612 131020612 single base substitution G A intron_variant SKCA-BR 12 131020772 131020772 single base substitution A G intron_variant SKCA-BR 12 131020824 131020824 single base substitution C T intron_variant SKCA-BR 12 131021421 131021421 single base substitution G A intron_variant SKCA-BR 12 131021992 131021992 single base substitution A T intron_variant SKCA-BR 12 131024215 131024215 single base substitution A C intron_variant SKCA-BR 12 131024973 131024973 single base substitution G A intron_variant SKCA-BR 12 131025603 131025603 single base substitution G A intron_variant SKCA-BR 12 131026743 131026743 single base substitution C T intron_variant SKCA-BR 12 131027266 131027266 single base substitution G A intron_variant SKCA-BR 12 131027735 131027735 single base substitution C T intron_variant SKCA-BR 12 131027797 131027797 single base substitution C T intron_variant SKCA-BR 12 131027912 131027912 single base substitution G A intron_variant SKCA-BR 12 131028699 131028699 single base substitution T A intron_variant SKCA-BR 12 131028938 131028938 single base substitution C T intron_variant SKCA-BR 12 131029163 131029163 single base substitution G T intron_variant SKCA-BR 12 131030376 131030376 single base substitution C T intron_variant SKCA-BR 12 131030399 131030399 single base substitution C T intron_variant SKCA-BR 12 131030976 131030976 single base substitution G A intron_variant SKCA-BR 12 131031066 131031066 single base substitution C T intron_variant SKCA-BR 12 131031744 131031744 single base substitution C T intron_variant SKCA-BR 12 131032038 131032038 single base substitution C T intron_variant SKCA-BR 12 131032443 131032443 single base substitution G T intron_variant SKCA-BR 12 131033364 131033364 single base substitution G A intron_variant SKCA-BR 12 131034187 131034187 single base substitution G A intron_variant SKCA-BR 12 131034554 131034554 single base substitution C T intron_variant SKCA-BR 12 131035458 131035458 single base substitution G A intron_variant SKCA-BR 12 131035500 131035500 single base substitution A T intron_variant SKCA-BR 12 131035732 131035732 single base substitution A C intron_variant SKCA-BR 12 131036933 131036933 single base substitution G A intron_variant SKCA-BR 12 131037483 131037483 single base substitution G T intron_variant SKCA-BR 12 131038116 131038116 single base substitution C T intron_variant SKCA-BR 12 131039108 131039110 deletion of <=200bp CAG - intron_variant SKCA-BR 12 131039822 131039822 single base substitution G A intron_variant SKCA-BR 12 131040173 131040173 single base substitution T A intron_variant SKCA-BR 12 131040727 131040727 single base substitution C T intron_variant SKCA-BR 12 131041908 131041908 single base substitution C T intron_variant SKCA-BR 12 131042011 131042011 single base substitution T C intron_variant SKCA-BR 12 131042019 131042019 single base substitution T G intron_variant SKCA-BR 12 131042043 131042043 single base substitution T C intron_variant SKCA-BR 12 131042322 131042322 single base substitution C T intron_variant SKCA-BR 12 131042567 131042567 single base substitution G A intron_variant SKCA-BR 12 131043378 131043378 single base substitution C T intron_variant SKCA-BR 12 131043726 131043726 single base substitution G A intron_variant SKCA-BR 12 131044084 131044084 single base substitution C T intron_variant SKCA-BR 12 131044678 131044678 single base substitution G A intron_variant SKCA-BR 12 131045753 131045753 single base substitution C T intron_variant SKCA-BR 12 131045937 131045937 single base substitution G A intron_variant SKCA-BR 12 131046112 131046112 single base substitution C T intron_variant SKCA-BR 12 131046797 131046797 single base substitution G A intron_variant SKCA-BR 12 131046887 131046887 single base substitution A T intron_variant SKCA-BR 12 131048517 131048517 single base substitution C T intron_variant SKCA-BR 12 131049041 131049041 single base substitution G A intron_variant SKCA-BR 12 131049403 131049403 single base substitution G T intron_variant SKCA-BR 12 131049607 131049607 single base substitution G A intron_variant SKCA-BR 12 131049919 131049919 single base substitution C T intron_variant SKCA-BR 12 131050109 131050109 single base substitution A T intron_variant SKCA-BR 12 131050178 131050178 single base substitution C T intron_variant SKCA-BR 12 131053040 131053040 single base substitution C T intron_variant SKCA-BR 12 131054129 131054129 single base substitution G A intron_variant SKCA-BR 12 131054302 131054302 single base substitution C T intron_variant SKCA-BR 12 131055038 131055038 single base substitution G A intron_variant SKCA-BR 12 131055575 131055575 single base substitution G A intron_variant SKCA-BR 12 131055833 131055833 single base substitution G A intron_variant SKCA-BR 12 131055960 131055960 insertion of <=200bp - CAT intron_variant SKCA-BR 12 131055961 131055961 insertion of <=200bp - AC intron_variant SKCA-BR 12 131055962 131055962 single base substitution T A intron_variant SKCA-BR 12 131055963 131055963 single base substitution T A intron_variant SKCA-BR 12 131056472 131056472 single base substitution C T intron_variant SKCA-BR 12 131056783 131056783 single base substitution C T intron_variant SKCA-BR 12 131057033 131057033 single base substitution G A intron_variant SKCA-BR 12 131057938 131057938 insertion of <=200bp - CGT intron_variant SKCA-BR 12 131057992 131057992 single base substitution C T intron_variant SKCA-BR 12 131058360 131058360 single base substitution G A intron_variant SKCA-BR 12 131059449 131059449 single base substitution G A intron_variant SKCA-BR 12 131060116 131060116 single base substitution G C intron_variant SKCA-BR 12 131061344 131061344 single base substitution G A intron_variant SKCA-BR 12 131061751 131061751 single base substitution G A intron_variant SKCA-BR 12 131063184 131063184 single base substitution C T intron_variant SKCA-BR 12 131065380 131065380 single base substitution G A intron_variant SKCA-BR 12 131065622 131065622 single base substitution C T intron_variant SKCA-BR 12 131065943 131065943 single base substitution C A intron_variant SKCA-BR 12 131066596 131066596 single base substitution C T intron_variant SKCA-BR 12 131067686 131067686 single base substitution G A intron_variant SKCA-BR 12 131068916 131068925 deletion of <=200bp CTCACCACCA - intron_variant SKCA-BR 12 131069914 131069914 single base substitution C T intron_variant SKCA-BR 12 131070747 131070747 single base substitution C T intron_variant SKCA-BR 12 131070782 131070782 single base substitution G A intron_variant SKCA-BR 12 131071104 131071104 single base substitution G C intron_variant SKCA-BR 12 131071776 131071776 single base substitution G A intron_variant SKCA-BR 12 131072406 131072406 single base substitution T G intron_variant SKCA-BR 12 131072442 131072442 single base substitution G T intron_variant SKCA-BR 12 131072443 131072443 single base substitution G A intron_variant SKCA-BR 12 131072937 131072937 single base substitution T C intron_variant SKCA-BR 12 131073199 131073199 single base substitution C T intron_variant SKCA-BR 12 131075855 131075855 single base substitution C T intron_variant SKCA-BR 12 131076153 131076153 single base substitution C T intron_variant SKCA-BR 12 131076191 131076191 single base substitution T C intron_variant SKCA-BR 12 131076213 131076213 single base substitution T C intron_variant SKCA-BR 12 131076413 131076413 single base substitution C T intron_variant SKCA-BR 12 131077227 131077227 insertion of <=200bp - CAA intron_variant SKCA-BR 12 131077242 131077242 single base substitution G A intron_variant SKCA-BR 12 131077361 131077361 single base substitution C A intron_variant SKCA-BR 12 131077362 131077362 single base substitution C T intron_variant SKCA-BR 12 131078123 131078123 single base substitution C T intron_variant SKCA-BR 12 131078202 131078202 single base substitution G A intron_variant SKCA-BR 12 131078508 131078508 single base substitution C A intron_variant SKCA-BR 12 131079026 131079026 single base substitution C T intron_variant SKCA-BR 12 131079626 131079626 single base substitution A T intron_variant SKCA-BR 12 131080088 131080088 single base substitution C T intron_variant SKCA-BR 12 131081409 131081409 single base substitution C T intron_variant SKCA-BR 12 131082892 131082892 single base substitution C T intron_variant SKCA-BR 12 131083168 131083168 single base substitution G A intron_variant SKCA-BR 12 131083271 131083272 deletion of <=200bp TA - intron_variant SKCA-BR 12 131084056 131084056 single base substitution G T intron_variant SKCA-BR 12 131084259 131084259 single base substitution T G intron_variant SKCA-BR 12 131084514 131084514 single base substitution G A intron_variant SKCA-BR 12 131084981 131084981 single base substitution G A intron_variant SKCA-BR 12 131085109 131085109 single base substitution C A intron_variant SKCA-BR 12 131085456 131085456 single base substitution C A intron_variant SKCA-BR 12 131087146 131087146 single base substitution T A intron_variant SKCA-BR 12 131088160 131088160 single base substitution G A intron_variant SKCA-BR 12 131088334 131088334 single base substitution A C intron_variant SKCA-BR 12 131088563 131088563 single base substitution C T intron_variant SKCA-BR 12 131090130 131090130 single base substitution G A intron_variant SKCA-BR 12 131090657 131090657 single base substitution G A intron_variant SKCA-BR 12 131090765 131090765 single base substitution G A intron_variant SKCA-BR 12 131093314 131093314 single base substitution T A intron_variant SKCA-BR 12 131093548 131093548 single base substitution C T intron_variant SKCA-BR 12 131094303 131094303 single base substitution C A intron_variant SKCA-BR 12 131094443 131094443 single base substitution C T intron_variant SKCA-BR 12 131094738 131094738 single base substitution G A intron_variant SKCA-BR 12 131094795 131094795 single base substitution C T intron_variant SKCA-BR 12 131095215 131095215 single base substitution C T intron_variant SKCA-BR 12 131096608 131096608 single base substitution C T intron_variant SKCA-BR 12 131097864 131097864 single base substitution A C intron_variant SKCA-BR 12 131097887 131097887 single base substitution C T intron_variant SKCA-BR 12 131097913 131097913 single base substitution A C intron_variant SKCA-BR 12 131098528 131098528 single base substitution C T intron_variant SKCA-BR 12 131098777 131098777 single base substitution G A intron_variant SKCA-BR 12 131099568 131099568 single base substitution C A intron_variant SKCA-BR 12 131100588 131100588 single base substitution G A intron_variant SKCA-BR 12 131101542 131101542 single base substitution G A intron_variant SKCA-BR 12 131103242 131103242 single base substitution G A intron_variant SKCA-BR 12 131103344 131103344 single base substitution G A intron_variant SKCA-BR 12 131104181 131104181 single base substitution G A intron_variant SKCA-BR 12 131105606 131105606 single base substitution G A intron_variant SKCA-BR 12 131105796 131105796 single base substitution G A intron_variant SKCA-BR 12 131106372 131106372 single base substitution G A intron_variant SKCA-BR 12 131106388 131106388 single base substitution C T intron_variant SKCA-BR 12 131107378 131107378 single base substitution C T intron_variant SKCA-BR 12 131108536 131108536 single base substitution C T intron_variant SKCA-BR 12 131108689 131108689 single base substitution G A intron_variant SKCA-BR 12 131109087 131109087 single base substitution C T intron_variant SKCA-BR 12 131109627 131109627 single base substitution G A intron_variant SKCA-BR 12 131111790 131111790 single base substitution C T intron_variant SKCA-BR 12 131112437 131112437 single base substitution C T intron_variant SKCA-BR 12 131112991 131112991 single base substitution T G 5_prime_UTR_variant SKCA-BR 12 131113097 131113097 single base substitution G T intron_variant SKCA-BR 12 131113936 131113936 single base substitution C T intron_variant SKCA-BR 12 131114249 131114249 single base substitution G A intron_variant SKCA-BR 12 131114740 131114740 single base substitution G A intron_variant SKCA-BR 12 131115325 131115325 single base substitution A T intron_variant SKCA-BR 12 131115998 131115998 single base substitution C T intron_variant SKCA-BR 12 131116185 131116185 single base substitution A T intron_variant SKCA-BR 12 131118047 131118047 single base substitution G A intron_variant SKCA-BR 12 131119033 131119033 single base substitution G T intron_variant SKCA-BR 12 131119305 131119305 single base substitution G A intron_variant SKCA-BR 12 131119592 131119592 single base substitution T C intron_variant SKCA-BR 12 131119618 131119618 single base substitution G A intron_variant SKCA-BR 12 131120422 131120422 single base substitution C T intron_variant SKCA-BR 12 131121066 131121066 single base substitution C T intron_variant SKCA-BR 12 131124531 131124531 single base substitution C T intron_variant SKCA-BR 12 131124652 131124652 single base substitution G A intron_variant SKCA-BR 12 131125260 131125260 single base substitution G A intron_variant SKCA-BR 12 131125292 131125292 single base substitution C T intron_variant SKCA-BR 12 131125406 131125406 single base substitution G A intron_variant SKCA-BR 12 131127468 131127468 single base substitution G A intron_variant SKCA-BR 12 131128104 131128104 single base substitution G A intron_variant SKCA-BR 12 131128979 131128979 single base substitution C T intron_variant SKCA-BR 12 131129252 131129252 single base substitution G A intron_variant SKCA-BR 12 131129281 131129281 single base substitution G A intron_variant SKCA-BR 12 131130586 131130610 deletion of <=200bp CCCTCTCCACCTCCCTCACCACCTG - intron_variant SKCA-BR 12 131130978 131130978 single base substitution A G intron_variant SKCA-BR 12 131130988 131130988 single base substitution C T intron_variant SKCA-BR 12 131130989 131130989 single base substitution C T intron_variant SKCA-BR 12 131131001 131131001 single base substitution C T intron_variant SKCA-BR 12 131131011 131131023 deletion of <=200bp GCTACCTCCCTCA - intron_variant SKCA-BR 12 131131315 131131315 single base substitution G A intron_variant SKCA-BR 12 131131351 131131351 single base substitution C T intron_variant SKCA-BR 12 131131603 131131603 single base substitution G A intron_variant SKCA-BR 12 131132180 131132180 single base substitution C T intron_variant SKCA-BR 12 131133946 131133946 single base substitution C T intron_variant SKCA-BR 12 131134155 131134155 single base substitution C T intron_variant SKCA-BR 12 131134290 131134291 deletion of <=200bp TC - intron_variant SKCA-BR 12 131135172 131135172 single base substitution G A intron_variant SKCA-BR 12 131135292 131135292 single base substitution C T intron_variant SKCA-BR 12 131135495 131135495 insertion of <=200bp - GT intron_variant SKCA-BR 12 131135752 131135752 single base substitution C T intron_variant SKCA-BR 12 131136570 131136570 single base substitution C T intron_variant SKCA-BR 12 131136808 131136808 single base substitution G A intron_variant SKCA-BR 12 131137565 131137565 single base substitution G A intron_variant SKCA-BR 12 131138602 131138602 single base substitution C T intron_variant SKCA-BR 12 131139163 131139163 single base substitution C T intron_variant SKCA-BR 12 131139269 131139269 single base substitution G A intron_variant SKCA-BR 12 131139783 131139783 single base substitution T C intron_variant SKCA-BR 12 131140114 131140114 single base substitution C T intron_variant SKCA-BR 12 131140460 131140460 single base substitution G A intron_variant SKCA-BR 12 131141203 131141203 single base substitution C T intron_variant SKCA-BR 12 131141941 131141941 single base substitution C T intron_variant SKCA-BR 12 131142469 131142469 single base substitution C T intron_variant SKCA-BR 12 131143492 131143492 single base substitution C T intron_variant SKCA-BR 12 131144656 131144656 single base substitution C G intron_variant SKCA-BR 12 131144878 131144878 single base substitution T C intron_variant SKCA-BR 12 131145144 131145144 single base substitution G A intron_variant SKCA-BR 12 131146702 131146702 single base substitution C A intron_variant SKCA-BR 12 131146762 131146762 single base substitution G A intron_variant SKCA-BR 12 131146912 131146912 single base substitution G A intron_variant SKCA-BR 12 131146928 131146928 single base substitution C T intron_variant SKCA-BR 12 131147909 131147909 single base substitution C T intron_variant SKCA-BR 12 131148521 131148521 single base substitution G A intron_variant SKCA-BR 12 131148933 131148933 insertion of <=200bp - TGCAC intron_variant SKCA-BR 12 131148934 131148934 insertion of <=200bp - GCACGCACA intron_variant SKCA-BR 12 131148944 131148944 single base substitution G A intron_variant SKCA-BR 12 131148962 131148962 single base substitution A G intron_variant SKCA-BR 12 131149010 131149010 insertion of <=200bp - ACACACACG intron_variant SKCA-BR 12 131149159 131149159 single base substitution C T intron_variant SKCA-BR 12 131149166 131149166 single base substitution G A intron_variant SKCA-BR 12 131149475 131149475 single base substitution G A intron_variant SKCA-BR 12 131150060 131150060 single base substitution C T intron_variant SKCA-BR 12 131150407 131150407 single base substitution C T intron_variant SKCA-BR 12 131150519 131150519 single base substitution C T intron_variant SKCA-BR 12 131150663 131150663 single base substitution G A intron_variant SKCA-BR 12 131151751 131151751 single base substitution G A intron_variant SKCA-BR 12 131152249 131152249 single base substitution G A intron_variant SKCA-BR 12 131152441 131152441 single base substitution G A intron_variant SKCA-BR 12 131153063 131153063 single base substitution C T intron_variant SKCA-BR 12 131154716 131154716 single base substitution T G intron_variant SKCA-BR 12 131154741 131154741 single base substitution C T intron_variant SKCA-BR 12 131154751 131154751 single base substitution T G intron_variant SKCA-BR 12 131155163 131155163 single base substitution A C intron_variant SKCA-BR 12 131156256 131156256 single base substitution A C intron_variant SKCA-BR 12 131156716 131156716 single base substitution C T intron_variant SKCA-BR 12 131157442 131157442 single base substitution A T intron_variant SKCA-BR 12 131157748 131157748 single base substitution T C intron_variant SKCA-BR 12 131158446 131158446 single base substitution G A intron_variant SKCA-BR 12 131158528 131158528 single base substitution T G intron_variant SKCA-BR 12 131159425 131159425 single base substitution C T intron_variant SKCA-BR 12 131159457 131159457 single base substitution C T intron_variant SKCA-BR 12 131160408 131160408 single base substitution T G intron_variant SKCA-BR 12 131160837 131160837 single base substitution C T intron_variant SKCA-BR 12 131161328 131161328 single base substitution C T intron_variant SKCA-BR 12 131161535 131161535 single base substitution G A intron_variant SKCA-BR 12 131163744 131163744 single base substitution C T intron_variant SKCA-BR 12 131164261 131164261 single base substitution C T intron_variant SKCA-BR 12 131164433 131164433 single base substitution G A intron_variant SKCA-BR 12 131165833 131165833 single base substitution T A intron_variant SKCA-BR 12 131166401 131166401 single base substitution G A intron_variant SKCA-BR 12 131167378 131167378 single base substitution G A intron_variant SKCA-BR 12 131167838 131167838 single base substitution G A intron_variant SKCA-BR 12 131168314 131168314 single base substitution C T intron_variant SKCA-BR 12 131171302 131171302 single base substitution C T intron_variant SKCA-BR 12 131171702 131171702 single base substitution T A intron_variant SKCA-BR 12 131174798 131174798 single base substitution G A intron_variant SKCA-BR 12 131175049 131175049 single base substitution C T intron_variant SKCA-BR 12 131175123 131175123 single base substitution G A intron_variant SKCA-BR 12 131175843 131175843 single base substitution A C intron_variant SKCA-BR 12 131175994 131175994 single base substitution C T intron_variant SKCA-BR 12 131176421 131176421 single base substitution C T intron_variant SKCA-BR 12 131177138 131177138 single base substitution C T intron_variant SKCA-BR 12 131177425 131177425 single base substitution G A intron_variant SKCA-BR 12 131177430 131177430 single base substitution G A intron_variant SKCA-BR 12 131177435 131177435 single base substitution G A intron_variant SKCA-BR 12 131177440 131177440 single base substitution A G intron_variant SKCA-BR 12 131177441 131177441 insertion of <=200bp - TAGGGTAGGGT intron_variant SKCA-BR 12 131177553 131177553 single base substitution G A intron_variant SKCA-BR 12 131179013 131179013 single base substitution C T intron_variant SKCA-BR 12 131179126 131179126 single base substitution C T intron_variant SKCA-BR 12 131179127 131179127 single base substitution C T intron_variant SKCA-BR 12 131179654 131179654 single base substitution C T intron_variant SKCA-BR 12 131180677 131180677 single base substitution C T intron_variant SKCA-BR 12 131181551 131181551 single base substitution C T intron_variant SKCA-BR 12 131181612 131181612 single base substitution G A intron_variant SKCA-BR 12 131181927 131181927 single base substitution G A intron_variant SKCA-BR 12 131182825 131182825 single base substitution C T intron_variant SKCA-BR 12 131183055 131183055 single base substitution C T intron_variant SKCA-BR 12 131184506 131184506 single base substitution T G intron_variant SKCA-BR 12 131184823 131184823 single base substitution T C intron_variant SKCA-BR 12 131184862 131184862 single base substitution A C intron_variant SKCA-BR 12 131186118 131186118 single base substitution C T intron_variant SKCA-BR 12 131187092 131187092 insertion of <=200bp - AGAAGGAAG intron_variant SKCA-BR 12 131187478 131187478 single base substitution A C intron_variant SKCA-BR 12 131188309 131188309 single base substitution C T intron_variant SKCA-BR 12 131188586 131188586 single base substitution C T intron_variant SKCA-BR 12 131189248 131189248 single base substitution A C intron_variant SKCA-BR 12 131189899 131189899 single base substitution C T intron_variant SKCA-BR 12 131190507 131190507 single base substitution G A intron_variant SKCA-BR 12 131191371 131191371 single base substitution C T intron_variant SKCA-BR 12 131191668 131191668 single base substitution G A intron_variant SKCA-BR 12 131192483 131192483 single base substitution G A intron_variant SKCA-BR 12 131193247 131193247 single base substitution G A intron_variant SKCA-BR 12 131193682 131193682 single base substitution C T intron_variant SKCA-BR 12 131194489 131194489 single base substitution G A intron_variant SKCA-BR 12 131194796 131194796 single base substitution C T intron_variant SKCA-BR 12 131195190 131195190 single base substitution T C intron_variant SKCA-BR 12 131195196 131195196 single base substitution G C intron_variant SKCA-BR 12 131195201 131195201 single base substitution A C intron_variant SKCA-BR 12 131195260 131195260 single base substitution T C intron_variant SKCA-BR 12 131195753 131195753 single base substitution A C intron_variant SKCA-BR 12 131197201 131197201 single base substitution C T intron_variant SKCA-BR 12 131199256 131199256 single base substitution A G intron_variant SKCA-BR 12 131199843 131199843 single base substitution A C intron_variant SKCA-BR 12 131202242 131202242 single base substitution G A upstream_gene_variant SKCA-BR 12 131204520 131204520 single base substitution G A upstream_gene_variant SKCA-BR 12 131204905 131204905 single base substitution C T upstream_gene_variant SKCM-US 12 130883684 130883684 single base substitution G A downstream_gene_variant SKCM-US 12 130883684 130883684 single base substitution G A intron_variant SKCM-US 12 130883684 130883684 single base substitution G A missense_variant P1052L 3155C>T SKCM-US 12 130883694 130883694 single base substitution G A downstream_gene_variant SKCM-US 12 130883694 130883694 single base substitution G A intron_variant SKCM-US 12 130883694 130883694 single base substitution G A missense_variant H1049Y 3145C>T SKCM-US 12 130884333 130884333 single base substitution A G 3_prime_UTR_variant SKCM-US 12 130884333 130884333 single base substitution A G missense_variant L1008P 3023T>C SKCM-US 12 130884333 130884333 single base substitution A G missense_variant L145P 434T>C SKCM-US 12 130892274 130892274 single base substitution G A exon_variant SKCM-US 12 130892274 130892274 single base substitution G A synonymous_variant V111V 333C>T SKCM-US 12 130892274 130892274 single base substitution G A synonymous_variant V974V 2922C>T SKCM-US 12 130892297 130892297 single base substitution C G exon_variant SKCM-US 12 130892297 130892297 single base substitution C G missense_variant E104Q 310G>C SKCM-US 12 130892297 130892297 single base substitution C G missense_variant E967Q 2899G>C SKCM-US 12 130892332 130892332 single base substitution C T exon_variant SKCM-US 12 130892332 130892332 single base substitution C T missense_variant R92Q 275G>A SKCM-US 12 130892332 130892332 single base substitution C T missense_variant R955Q 2864G>A SKCM-US 12 130897266 130897266 single base substitution G A missense_variant P44S 130C>T SKCM-US 12 130897266 130897266 single base substitution G A missense_variant P907S 2719C>T SKCM-US 12 130897266 130897266 single base substitution G A upstream_gene_variant SKCM-US 12 130897293 130897293 single base substitution C T missense_variant E35K 103G>A SKCM-US 12 130897293 130897293 single base substitution C T missense_variant E898K 2692G>A SKCM-US 12 130897293 130897293 single base substitution C T upstream_gene_variant SKCM-US 12 130898676 130898676 single base substitution G A synonymous_variant I19I 57C>T SKCM-US 12 130898676 130898676 single base substitution G A synonymous_variant I882I 2646C>T SKCM-US 12 130898740 130898740 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 12 130898740 130898740 single base substitution G A missense_variant P861L 2582C>T SKCM-US 12 130898827 130898827 single base substitution G A 5_prime_UTR_variant SKCM-US 12 130898827 130898827 single base substitution G A missense_variant S832F 2495C>T SKCM-US 12 130898837 130898837 single base substitution C T 5_prime_UTR_variant SKCM-US 12 130898837 130898837 single base substitution C T missense_variant D829N 2485G>A SKCM-US 12 130898849 130898849 single base substitution C T 5_prime_UTR_variant SKCM-US 12 130898849 130898849 single base substitution C T missense_variant D825N 2473G>A SKCM-US 12 130907064 130907064 single base substitution C T missense_variant G802S 2404G>A SKCM-US 12 130919293 130919293 single base substitution C T missense_variant E638K 1912G>A SKCM-US 12 130919293 130919293 single base substitution C T missense_variant E730K 2188G>A SKCM-US 12 130919295 130919295 single base substitution G A missense_variant S637F 1910C>T SKCM-US 12 130919295 130919295 single base substitution G A missense_variant S729F 2186C>T SKCM-US 12 130919306 130919306 single base substitution G A synonymous_variant F633F 1899C>T SKCM-US 12 130919306 130919306 single base substitution G A synonymous_variant F725F 2175C>T SKCM-US 12 130919319 130919319 single base substitution G A missense_variant S629L 1886C>T SKCM-US 12 130919319 130919319 single base substitution G A missense_variant S721L 2162C>T SKCM-US 12 130919328 130919328 single base substitution C T missense_variant R626K 1877G>A SKCM-US 12 130919328 130919328 single base substitution C T missense_variant R718K 2153G>A SKCM-US 12 130919343 130919343 single base substitution G A missense_variant P621L 1862C>T SKCM-US 12 130919343 130919343 single base substitution G A missense_variant P713L 2138C>T SKCM-US 12 130919362 130919362 single base substitution C T missense_variant E615K 1843G>A SKCM-US 12 130919362 130919362 single base substitution C T missense_variant E707K 2119G>A SKCM-US 12 130919365 130919365 single base substitution C T missense_variant E614K 1840G>A SKCM-US 12 130919365 130919365 single base substitution C T missense_variant E706K 2116G>A SKCM-US 12 130919399 130919399 single base substitution C G missense_variant E602D 1806G>C SKCM-US 12 130919399 130919399 single base substitution C G missense_variant E694D 2082G>C SKCM-US 12 130921582 130921582 single base substitution C T synonymous_variant R528R 1584G>A SKCM-US 12 130921582 130921582 single base substitution C T synonymous_variant R620R 1860G>A SKCM-US 12 130921606 130921606 single base substitution G C missense_variant D520E 1560C>G SKCM-US 12 130921606 130921606 single base substitution G C missense_variant D612E 1836C>G SKCM-US 12 130921619 130921619 single base substitution G A missense_variant P516L 1547C>T SKCM-US 12 130921619 130921619 single base substitution G A missense_variant P608L 1823C>T SKCM-US 12 130921760 130921760 single base substitution C T missense_variant G469D 1406G>A SKCM-US 12 130921760 130921760 single base substitution C T missense_variant G561D 1682G>A SKCM-US 12 130922939 130922939 single base substitution C A missense_variant G434C 1300G>T SKCM-US 12 130922939 130922939 single base substitution C A missense_variant G526C 1576G>T SKCM-US 12 130926407 130926407 single base substitution G A missense_variant S388F 1163C>T SKCM-US 12 130926407 130926407 single base substitution G A missense_variant S480F 1439C>T SKCM-US 12 130926559 130926559 single base substitution G A synonymous_variant F337F 1011C>T SKCM-US 12 130926559 130926559 single base substitution G A synonymous_variant F429F 1287C>T SKCM-US 12 130926570 130926570 single base substitution C T missense_variant E334K 1000G>A SKCM-US 12 130926570 130926570 single base substitution C T missense_variant E426K 1276G>A SKCM-US 12 130926629 130926629 single base substitution G A missense_variant S314F 941C>T SKCM-US 12 130926629 130926629 single base substitution G A missense_variant S406F 1217C>T SKCM-US 12 130926676 130926676 single base substitution C T synonymous_variant V298V 894G>A SKCM-US 12 130926676 130926676 single base substitution C T synonymous_variant V390V 1170G>A SKCM-US 12 130926716 130926716 single base substitution G A missense_variant S285L 854C>T SKCM-US 12 130926716 130926716 single base substitution G A missense_variant S377L 1130C>T SKCM-US 12 130926778 130926778 single base substitution C T synonymous_variant K264K 792G>A SKCM-US 12 130926778 130926778 single base substitution C T synonymous_variant K356K 1068G>A SKCM-US 12 130926783 130926783 single base substitution C T missense_variant E263K 787G>A SKCM-US 12 130926783 130926783 single base substitution C T missense_variant E355K 1063G>A SKCM-US 12 130926844 130926844 single base substitution G A synonymous_variant V242V 726C>T SKCM-US 12 130926844 130926844 single base substitution G A synonymous_variant V334V 1002C>T SKCM-US 12 130926975 130926975 single base substitution C T missense_variant D199N 595G>A SKCM-US 12 130926975 130926975 single base substitution C T missense_variant D291N 871G>A SKCM-US 12 130927048 130927048 single base substitution G A synonymous_variant D174D 522C>T SKCM-US 12 130927048 130927048 single base substitution G A synonymous_variant D266D 798C>T SKCM-US 12 130927050 130927050 single base substitution C T missense_variant D174N 520G>A SKCM-US 12 130927050 130927050 single base substitution C T missense_variant D266N 796G>A SKCM-US 12 130927093 130927093 single base substitution G A synonymous_variant F159F 477C>T SKCM-US 12 130927093 130927093 single base substitution G A synonymous_variant F251F 753C>T SKCM-US 12 130927115 130927115 single base substitution C T missense_variant G152E 455G>A SKCM-US 12 130927115 130927115 single base substitution C T missense_variant G244E 731G>A SKCM-US 12 130927162 130927162 single base substitution G A synonymous_variant F136F 408C>T SKCM-US 12 130927162 130927162 single base substitution G A synonymous_variant F228F 684C>T SKCM-US 12 130927205 130927205 single base substitution C T missense_variant G122E 365G>A SKCM-US 12 130927205 130927205 single base substitution C T missense_variant G214E 641G>A SKCM-US 12 130927206 130927206 single base substitution C T splice_acceptor_variant SKCM-US 12 130929739 130929739 single base substitution G A synonymous_variant V110V 330C>T SKCM-US 12 130929739 130929739 single base substitution G A synonymous_variant V202V 606C>T SKCM-US 12 130929789 130929789 single base substitution C T missense_variant E186K 556G>A SKCM-US 12 130929789 130929789 single base substitution C T missense_variant E94K 280G>A SKCM-US 12 130934774 130934774 single base substitution C T synonymous_variant G167G 501G>A SKCM-US 12 130934774 130934774 single base substitution C T synonymous_variant G75G 225G>A SKCM-US 12 130935880 130935880 single base substitution C T missense_variant E105K 313G>A SKCM-US 12 130935880 130935880 single base substitution C T missense_variant E13K 37G>A SKCM-US 12 130941052 130941052 single base substitution G A missense_variant S7F 20C>T SKCM-US 12 130941052 130941052 single base substitution G A missense_variant S99F 296C>T SKCM-US 12 130941179 130941179 single base substitution C T 5_prime_UTR_variant SKCM-US 12 130941179 130941179 single base substitution C T missense_variant D57N 169G>A STAD-US 12 130884240 130884240 single base substitution C T 3_prime_UTR_variant STAD-US 12 130884240 130884240 single base substitution C T downstream_gene_variant STAD-US 12 130884240 130884240 single base substitution C T missense_variant R1039H 3116G>A STAD-US 12 130884319 130884319 single base substitution A C 3_prime_UTR_variant STAD-US 12 130884319 130884319 single base substitution A C missense_variant F1013V 3037T>G STAD-US 12 130884319 130884319 single base substitution A C missense_variant F150V 448T>G STAD-US 12 130884319 130884319 single base substitution A T 3_prime_UTR_variant STAD-US 12 130884319 130884319 single base substitution A T missense_variant F1013I 3037T>A STAD-US 12 130884319 130884319 single base substitution A T missense_variant F150I 448T>A STAD-US 12 130892273 130892273 single base substitution C T missense_variant E112K 334G>A STAD-US 12 130892273 130892273 single base substitution C T missense_variant E975K 2923G>A STAD-US 12 130892273 130892273 single base substitution C T splice_region_variant STAD-US 12 130892274 130892274 single base substitution G A exon_variant STAD-US 12 130892274 130892274 single base substitution G A synonymous_variant V111V 333C>T STAD-US 12 130892274 130892274 single base substitution G A synonymous_variant V974V 2922C>T STAD-US 12 130897259 130897259 single base substitution T A missense_variant N46I 137A>T STAD-US 12 130897259 130897259 single base substitution T A missense_variant N909I 2726A>T STAD-US 12 130897259 130897259 single base substitution T A upstream_gene_variant STAD-US 12 130897281 130897281 single base substitution G A missense_variant R39W 115C>T STAD-US 12 130897281 130897281 single base substitution G A missense_variant R902W 2704C>T STAD-US 12 130897281 130897281 single base substitution G A upstream_gene_variant STAD-US 12 130898786 130898786 single base substitution C T 5_prime_UTR_variant STAD-US 12 130898786 130898786 single base substitution C T missense_variant E846K 2536G>A STAD-US 12 130898838 130898838 single base substitution T C 5_prime_UTR_variant STAD-US 12 130898838 130898838 single base substitution T C synonymous_variant R828R 2484A>G STAD-US 12 130898840 130898840 single base substitution G A 5_prime_UTR_variant STAD-US 12 130898840 130898840 single base substitution G A stop_gained R828* 2482C>T STAD-US 12 130919323 130919323 single base substitution C T missense_variant A628T 1882G>A STAD-US 12 130919323 130919323 single base substitution C T missense_variant A720T 2158G>A STAD-US 12 130919389 130919389 single base substitution C T missense_variant A606T 1816G>A STAD-US 12 130919389 130919389 single base substitution C T missense_variant A698T 2092G>A STAD-US 12 130921759 130921759 single base substitution G A synonymous_variant G469G 1407C>T STAD-US 12 130921759 130921759 single base substitution G A synonymous_variant G561G 1683C>T STAD-US 12 130923044 130923044 single base substitution G A stop_gained Q399* 1195C>T STAD-US 12 130923044 130923044 single base substitution G A stop_gained Q491* 1471C>T STAD-US 12 130926863 130926863 single base substitution G A missense_variant T236M 707C>T STAD-US 12 130926863 130926863 single base substitution G A missense_variant T328M 983C>T STAD-US 12 130926883 130926883 single base substitution C T synonymous_variant A229A 687G>A STAD-US 12 130926883 130926883 single base substitution C T synonymous_variant A321A 963G>A STAD-US 12 130926898 130926898 single base substitution G A synonymous_variant G224G 672C>T STAD-US 12 130926898 130926898 single base substitution G A synonymous_variant G316G 948C>T STAD-US 12 130929709 130929709 single base substitution A T stop_gained Y120* 360T>A STAD-US 12 130929709 130929709 single base substitution A T stop_gained Y212* 636T>A STAD-US 12 130929742 130929742 single base substitution G A synonymous_variant Y109Y 327C>T STAD-US 12 130929742 130929742 single base substitution G A synonymous_variant Y201Y 603C>T STAD-US 12 130935764 130935764 single base substitution G A synonymous_variant S143S 429C>T STAD-US 12 130935764 130935764 single base substitution G A synonymous_variant S51S 153C>T STAD-US 12 130935771 130935771 single base substitution G C missense_variant S141C 422C>G STAD-US 12 130935771 130935771 single base substitution G C missense_variant S49C 146C>G STAD-US 12 130935800 130935800 single base substitution C T synonymous_variant L131L 393G>A STAD-US 12 130935800 130935800 single base substitution C T synonymous_variant L39L 117G>A STAD-US 12 130941158 130941158 single base substitution G A 5_prime_UTR_variant STAD-US 12 130941158 130941158 single base substitution G A missense_variant H64Y 190C>T THCA-SA 12 130884347 130884347 single base substitution A G 3_prime_UTR_variant THCA-SA 12 130884347 130884347 single base substitution A G synonymous_variant N1003N 3009T>C THCA-SA 12 130884347 130884347 single base substitution A G synonymous_variant N140N 420T>C THCA-SA 12 130912757 130912757 single base substitution C T downstream_gene_variant THCA-SA 12 130912757 130912757 single base substitution C T synonymous_variant R776R 2328G>A THCA-SA 12 130921471 130921471 single base substitution T C synonymous_variant P565P 1695A>G THCA-SA 12 130921471 130921471 single base substitution T C synonymous_variant P657P 1971A>G THCA-SA 12 130941150 130941150 single base substitution G C 5_prime_UTR_variant THCA-SA 12 130941150 130941150 single base substitution G C synonymous_variant G66G 198C>G UCEC-US 12 130884249 130884249 single base substitution G A 3_prime_UTR_variant UCEC-US 12 130884249 130884249 single base substitution G A downstream_gene_variant UCEC-US 12 130884249 130884249 single base substitution G A missense_variant T1036M 3107C>T UCEC-US 12 130884250 130884250 single base substitution T C 3_prime_UTR_variant UCEC-US 12 130884250 130884250 single base substitution T C downstream_gene_variant UCEC-US 12 130884250 130884250 single base substitution T C missense_variant T1036A 3106A>G UCEC-US 12 130892334 130892334 single base substitution C T exon_variant UCEC-US 12 130892334 130892334 single base substitution C T synonymous_variant T91T 273G>A UCEC-US 12 130892334 130892334 single base substitution C T synonymous_variant T954T 2862G>A UCEC-US 12 130892338 130892338 single base substitution G A exon_variant UCEC-US 12 130892338 130892338 single base substitution G A missense_variant S90L 269C>T UCEC-US 12 130892338 130892338 single base substitution G A missense_variant S953L 2858C>T UCEC-US 12 130897194 130897194 single base substitution G T missense_variant L68I 202C>A UCEC-US 12 130897194 130897194 single base substitution G T missense_variant L931I 2791C>A UCEC-US 12 130897194 130897194 single base substitution G T upstream_gene_variant UCEC-US 12 130897303 130897303 single base substitution G A synonymous_variant F31F 93C>T UCEC-US 12 130897303 130897303 single base substitution G A synonymous_variant F894F 2682C>T UCEC-US 12 130897303 130897303 single base substitution G A upstream_gene_variant UCEC-US 12 130898703 130898703 single base substitution C G missense_variant E10D 30G>C UCEC-US 12 130898703 130898703 single base substitution C G missense_variant E873D 2619G>C UCEC-US 12 130919413 130919413 single base substitution T C missense_variant S598G 1792A>G UCEC-US 12 130919413 130919413 single base substitution T C missense_variant S690G 2068A>G UCEC-US 12 130921489 130921489 single base substitution T G synonymous_variant S559S 1677A>C UCEC-US 12 130921489 130921489 single base substitution T G synonymous_variant S651S 1953A>C UCEC-US 12 130921500 130921500 single base substitution G A missense_variant R556W 1666C>T UCEC-US 12 130921500 130921500 single base substitution G A missense_variant R648W 1942C>T UCEC-US 12 130921539 130921539 single base substitution G A missense_variant H543Y 1627C>T UCEC-US 12 130921539 130921539 single base substitution G A missense_variant H635Y 1903C>T UCEC-US 12 130921588 130921588 single base substitution G A synonymous_variant H526H 1578C>T UCEC-US 12 130921588 130921588 single base substitution G A synonymous_variant H618H 1854C>T UCEC-US 12 130921738 130921738 single base substitution G A synonymous_variant S476S 1428C>T UCEC-US 12 130921738 130921738 single base substitution G A synonymous_variant S568S 1704C>T UCEC-US 12 130926531 130926531 single base substitution A G missense_variant Y347H 1039T>C UCEC-US 12 130926531 130926531 single base substitution A G missense_variant Y439H 1315T>C UCEC-US 12 130926553 130926553 single base substitution G A synonymous_variant I339I 1017C>T UCEC-US 12 130926553 130926553 single base substitution G A synonymous_variant I431I 1293C>T UCEC-US 12 130926559 130926559 single base substitution G A synonymous_variant F337F 1011C>T UCEC-US 12 130926559 130926559 single base substitution G A synonymous_variant F429F 1287C>T UCEC-US 12 130926735 130926735 single base substitution C T missense_variant V279I 835G>A UCEC-US 12 130926735 130926735 single base substitution C T missense_variant V371I 1111G>A UCEC-US 12 130926745 130926745 single base substitution G A synonymous_variant S275S 825C>T UCEC-US 12 130926745 130926745 single base substitution G A synonymous_variant S367S 1101C>T UCEC-US 12 130926776 130926776 single base substitution A T missense_variant L265H 794T>A UCEC-US 12 130926776 130926776 single base substitution A T missense_variant L357H 1070T>A UCEC-US 12 130926790 130926790 single base substitution G T synonymous_variant A260A 780C>A UCEC-US 12 130926790 130926790 single base substitution G T synonymous_variant A352A 1056C>A UCEC-US 12 130926918 130926918 single base substitution C T missense_variant A218T 652G>A UCEC-US 12 130926918 130926918 single base substitution C T missense_variant A310T 928G>A UCEC-US 12 130927022 130927022 single base substitution G A missense_variant A183V 548C>T UCEC-US 12 130927022 130927022 single base substitution G A missense_variant A275V 824C>T UCEC-US 12 130927121 130927121 single base substitution G A missense_variant T150M 449C>T UCEC-US 12 130927121 130927121 single base substitution G A missense_variant T242M 725C>T UCEC-US 12 130929802 130929802 single base substitution G A synonymous_variant F181F 543C>T UCEC-US 12 130929802 130929802 single base substitution G A synonymous_variant F89F 267C>T UCEC-US 12 130934792 130934792 single base substitution G A synonymous_variant S161S 483C>T UCEC-US 12 130934792 130934792 single base substitution G A synonymous_variant S69S 207C>T UCEC-US 12 130935764 130935764 single base substitution G A synonymous_variant S143S 429C>T UCEC-US 12 130935764 130935764 single base substitution G A synonymous_variant S51S 153C>T UCEC-US 12 130935870 130935870 single base substitution A C missense_variant I108S 323T>G UCEC-US 12 130935870 130935870 single base substitution A C missense_variant I16S 47T>G UCEC-US 12 130941156 130941156 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 12 130941156 130941156 single base substitution G A synonymous_variant H64H 192C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand BD137T COSM2228361 c.2223C>T p.D741D Substitution - coding silent 12:130428317-130428317 - TCGA-BR-6452-01 COSM4040128 c.2726A>T p.N909I Substitution - Missense 12:130412714-130412714 - CHEWS034 COSM3730199 c.365C>T p.P122L Substitution - Missense 12:130451283-130451283 - HCC89T COSM1605780 c.2017G>T p.A673S Substitution - Missense 12:130436880-130436880 - TCGA-D7-8579-01 COSM430733 c.3037T>G p.F1013V Substitution - Missense 12:130399774-130399774 - TCGA-AD-6895-01 COSM1360095 c.1542G>A p.T514T Substitution - coding silent 12:130438428-130438428 - PCSI_0072_Pa_P_526 COSM3376055 c.226G>T p.V76L Substitution - Missense 12:130456577-130456577 - pfg181T COSM215511 c.1741G>A p.V581I Substitution - Missense 12:130437156-130437156 - TCGA-AX-A0J0-01 COSM937015 c.543C>T p.F181F Substitution - coding silent 12:130445257-130445257 - HCC102T COSM1644945 c.2452G>A p.V818M Substitution - Missense 12:130422471-130422471 - ESCC_53 COSM5631264 c.1684G>A p.V562M Substitution - Missense 12:130437213-130437213 - C086 COSM3871097 c.2153G>A p.R718K Substitution - Missense 12:130434783-130434783 - CHC892T COSM4961381 c.1178C>T p.A393V Substitution - Missense 12:130442123-130442123 - 2492722 COSM228597 c.1753C>T p.L585F Substitution - Missense 12:130437144-130437144 - TCGA-KK-A5A1-01 COSM4392021 c.1802C>A p.P601Q Substitution - Missense 12:130437095-130437095 - HN14PT COSM98284 c.1282G>C p.E428Q Substitution - Missense 12:130442019-130442019 - WA37 COSM238099 c.2472C>T p.D824D Substitution - coding silent 12:130414305-130414305 - TCGA-B5-A11E-01 COSM937018 c.429C>T p.S143S Substitution - coding silent 12:130451219-130451219 - PT40 COSM5923989 c.640+5C>T p.? Unknown 12:130445155-130445155 - OSCC-GB_00490111 COSM3714369 c.75T>G p.D25E Substitution - Missense 3:139462289-139462289 - ESO-105 COSM1264167 c.680A>T p.N227I Substitution - Missense 12:130442621-130442621 - Pat_40_B COSM5840530 c.2080G>A p.E694K Substitution - Missense 12:130434856-130434856 - TCGA-66-2785-01 COSM692284 c.3093C>T p.H1031H Substitution - coding silent 12:130399718-130399718 - HCC28 COSM1605782 c.1668C>A p.S556R Substitution - Missense 12:130437229-130437229 - 276T COSM468016 c.1402G>A p.E468K Substitution - Missense 12:130441899-130441899 - ESO-1145 COSM1264168 c.453C>T p.D151D Substitution - coding silent 12:130451195-130451195 - T2269 COSM468018 c.1000G>A p.V334I Substitution - Missense 12:130442301-130442301 - TCGA-D3-A51F-06 COSM3458099 c.2899G>C p.E967Q Substitution - Missense 12:130407752-130407752 - TCGA-AZ-4615-01 COSM3688051 c.1930G>A p.G644S Substitution - Missense 12:130436967-130436967 - YUGATOR COSM4204932 c.2703C>T p.A901A Substitution - coding silent 12:130412737-130412737 - YUJUBE COSM5374635 c.1215C>T p.I405I Substitution - coding silent 12:130442086-130442086 - CSCC-15-T COSM4518020 c.498_499GG>AA p.G167R Substitution - Missense 12:130450231-130450232 - PD6749a COSM1637672 c.1564G>A p.A522T Substitution - Missense 12:130438406-130438406 - Br17X COSM39237 c.713G>A p.R238Q Substitution - Missense 12:130442588-130442588 - 010-0028-02TD COSM5416811 c.531-4G>A p.? Unknown 12:130445273-130445273 - 134427 COSM323070 c.365C>G p.P122R Substitution - Missense 12:130451283-130451283 - TCGA-EE-A183-06 COSM3458098 c.3023T>C p.L1008P Substitution - Missense 12:130399788-130399788 - TCGA-EE-A2MR-06 COSM3458108 c.2186C>T p.S729F Substitution - Missense 12:130434750-130434750 - TCGA-D8-A1JL-01 COSM1476327 c.307+1G>C p.? Unknown 12:130456495-130456495 - T3202 COSM4721697 c.2457A>C p.T819T Substitution - coding silent 12:130422466-130422466 - TCGA-BS-A0TA-01 COSM937016 c.490A>C p.R164R Substitution - coding silent 12:130450240-130450240 - Pat_70_A COSM5840536 c.951G>A p.W317* Substitution - Nonsense 12:130442350-130442350 - PT13 COSM5896181 c.2894C>T p.P965L Substitution - Missense 12:130407757-130407757 - TCGA-GF-A2C7-01 COSM3458104 c.2495C>T p.S832F Substitution - Missense 12:130414282-130414282 - YUGURT COSM2228417 c.684C>T p.F228F Substitution - coding silent 12:130442617-130442617 - pfg378T COSM4761922 c.62T>A p.M21K Substitution - Missense 3:139476398-139476398 - SC_9008 COSM2228364 c.2204C>T p.P735L Substitution - Missense 12:130428336-130428336 - YUMER COSM1706451 c.1822C>T p.P608S Substitution - Missense 12:130437075-130437075 - 587222 COSM1223740 c.1415A>G p.K472R Substitution - Missense 12:130441886-130441886 - 2521243 COSM2228343 c.2763G>A p.M921I Substitution - Missense 12:130412677-130412677 - CSCC-60-T COSM4499773 c.54C>T p.A18A Substitution - coding silent 12:130478960-130478960 - T55 COSM4721694 c.2956A>C p.I986L Substitution - Missense 12:130406213-130406213 - TCGA-33-4532-01 COSM692274 c.577C>A p.P193T Substitution - Missense 12:130445223-130445223 - sysucc-1135T COSM5479905 c.1786G>T p.A596S Substitution - Missense 12:130437111-130437111 - CRC-02T COSM5454076 c.1658G>A p.R553Q Substitution - Missense 12:130437239-130437239 - CSCC-41-T COSM4486606 c.3073C>G p.L1025V Substitution - Missense 12:130399738-130399738 - TCGA-EI-6917-01 COSM3416623 c.2483G>A p.R828Q Substitution - Missense 12:130414294-130414294 - TCGA-EE-A20F-06 COSM3458106 c.2404G>A p.G802S Substitution - Missense 12:130422519-130422519 - TCGA-EE-A2GI-06 COSM3458110 c.2162C>T p.S721L Substitution - Missense 12:130434774-130434774 - TCGA-AA-3821-01 COSM294766 c.356G>A p.R119Q Substitution - Missense 12:130451292-130451292 - CSCC-35-T COSM4462000 c.1229C>T p.S410F Substitution - Missense 12:130442072-130442072 - TCGA-AX-A05Z-01 COSM1039116 c.83T>C p.F28S Substitution - Missense 3:139462281-139462281 - TCGA-D1-A17Q-01 COSM937019 c.323T>G p.I108S Substitution - Missense 12:130451325-130451325 - Pat_16_B COSM5840527 c.3134A>T p.K1045M Substitution - Missense 12:130399160-130399160 - YUOMEGA COSM937008 c.1293C>T p.I431I Substitution - coding silent 12:130442008-130442008 - TCGA-AA-3663-01 COSM3753050 c.1971A>G p.P657P Substitution - coding silent 12:130436926-130436926 - B23 COSM1746843 c.1414A>T p.K472* Substitution - Nonsense 12:130441887-130441887 - 308_T COSM2228370 c.2093C>T p.A698V Substitution - Missense 12:130434843-130434843 - TCGA-EE-A3JI-06 COSM3458117 c.1682G>A p.G561D Substitution - Missense 12:130437215-130437215 - PD4844a COSM164017 c.3132G>C p.R1044S Substitution - Missense 12:130399679-130399679 - TCGA-C8-A12N-01 COSM430735 c.2408G>A p.R803Q Substitution - Missense 12:130422515-130422515 - EV001-R2 COSM1161901 c.782G>A p.G261E Substitution - Missense 12:130442519-130442519 - TCGA-D7-8579-01 COSM937018 c.429C>T p.S143S Substitution - coding silent 12:130451219-130451219 - Pat_08_A COSM5840534 c.1108T>G p.C370G Substitution - Missense 12:130442193-130442193 - TCGA-EE-A2GR-06 COSM2228417 c.684C>T p.F228F Substitution - coding silent 12:130442617-130442617 - pfg016T COSM1639074 c.1303G>A p.A435T Substitution - Missense 12:130441998-130441998 - TCGA-02-2470 COSM2149103 c.2489G>A p.R830H Substitution - Missense 12:130414288-130414288 - CSCC-7-T COSM4539481 c.2691G>A p.G897G Substitution - coding silent 12:130412749-130412749 - ESO-1670 COSM1264169 c.2687G>A p.R896H Substitution - Missense 12:130412753-130412753 - T2944 COSM4721700 c.1982G>A p.G661D Substitution - Missense 12:130436915-130436915 - TCGA-B5-A11R-01 COSM937000 c.2619G>C p.E873D Substitution - Missense 12:130414158-130414158 - S02385 COSM2228370 c.2093C>T p.A698V Substitution - Missense 12:130434843-130434843 - TCGA-G4-6320-01 COSM3688052 c.584C>T p.T195M Substitution - Missense 12:130445216-130445216 - ESCC_1 COSM5622412 c.2246G>A p.R749Q Substitution - Missense 12:130428294-130428294 - TCGA-ER-A19A-06 COSM3458097 c.3145C>T p.H1049Y Substitution - Missense 12:130399149-130399149 - TCGA-EE-A3J5-06 COSM3458127 c.753C>T p.F251F Substitution - coding silent 12:130442548-130442548 - ESOCB11T COSM1171886 c.2582C>T p.P861L Substitution - Missense 12:130414195-130414195 - TCGA-C8-A3M7-01 COSM3811481 c.1208C>T p.T403M Substitution - Missense 12:130442093-130442093 - TCGA-EE-A3AA-06 COSM3458132 c.296C>T p.S99F Substitution - Missense 12:130456507-130456507 - TCGA-FW-A3R5-06 COSM3871102 c.641G>A p.G214E Substitution - Missense 12:130442660-130442660 - NB03C COSM1236303 c.301G>A p.G101S Substitution - Missense 12:130456502-130456502 - TCGA-EI-6510-01 COSM1561759 c.3037T>C p.F1013L Substitution - Missense 12:130399774-130399774 - HCT15 COSM2228353 c.2486A>G p.D829G Substitution - Missense 12:130414291-130414291 - YUKLAB COSM1686688 c.2822-2A>C p.? Unknown 12:130407831-130407831 - CHC1743T COSM4484961 c.2878C>T p.L960L Substitution - coding silent 12:130407773-130407773 - PT46 COSM5929450 c.3011G>A p.G1004E Substitution - Missense 12:130399800-130399800 - YUKLAB COSM1706452 c.1022G>A p.R341H Substitution - Missense 12:130442279-130442279 - TCGA-D3-A5GO-06 COSM3588079 c.140G>A p.G47D Substitution - Missense 3:139462224-139462224 - T3116 COSM430734 c.2913C>T p.N971N Substitution - coding silent 12:130407738-130407738 - TCGA-A2-A0YD-01 COSM430734 c.2913C>T p.N971N Substitution - coding silent 12:130407738-130407738 - RD COSM4989768 c.370G>T p.D124Y Substitution - Missense 3:139453151-139453151 - PCSI_0072_Pa_P COSM3376055 c.226G>T p.V76L Substitution - Missense 12:130456577-130456577 - TCGA-A4-A6HP-01 COSM937002 c.1953A>C p.S651S Substitution - coding silent 12:130436944-130436944 - CHC892T COSM4959568 c.232C>T p.P78S Substitution - Missense 12:130456571-130456571 - NB-1042 COSM1287624 c.2020delC p.R674fs*13 Deletion - Frameshift 12:130436877-130436877 - TCGA-FS-A1ZK-06 COSM3458128 c.731G>A p.G244E Substitution - Missense 12:130442570-130442570 - TCGA-FW-A3R5-06 COSM3871099 c.1068G>A p.K356K Substitution - coding silent 12:130442233-130442233 - sysucc-1240T COSM5766007 c.2821+7G>A p.? Unknown 12:130412612-130412612 - TCGA-EE-A2MR-06 COSM3458122 c.1170G>A p.V390V Substitution - coding silent 12:130442131-130442131 - 2250196 COSM5029577 c.1570G>A p.V524I Substitution - Missense 12:130438400-130438400 - Br27P COSM40878 c.2652+4C>T p.? Unknown 12:130414121-130414121 - HN_62996 COSM125856 c.166C>T p.R56W Substitution - Missense 12:130456637-130456637 - T3502 COSM4721702 c.1942C>A p.R648R Substitution - coding silent 12:130436955-130436955 - EV001-R1 COSM1161901 c.782G>A p.G261E Substitution - Missense 12:130442519-130442519 - TCGA-EE-A3AA-06 COSM3458100 c.2864G>A p.R955Q Substitution - Missense 12:130407787-130407787 - YUGURT COSM5398271 c.247G>C p.V83L Substitution - Missense 3:139462117-139462117 - CSCC-62-T COSM4484961 c.2878C>T p.L960L Substitution - coding silent 12:130407773-130407773 - C089 COSM5543393 c.20G>A p.G7E Substitution - Missense 3:139476440-139476440 - CSCC-31-T COSM4541005 c.2929G>A p.E977K Substitution - Missense 12:130406240-130406240 - BK0037 COSM4187109 c.2519A>T p.E840V Substitution - Missense 12:130414258-130414258 - TCGA-GN-A262-06 COSM2228417 c.684C>T p.F228F Substitution - coding silent 12:130442617-130442617 - HCA7 COSM1299122 c.1063G>A p.E355K Substitution - Missense 12:130442238-130442238 - TCGA-AU-6004-01 COSM1360102 c.847G>A p.G283R Substitution - Missense 12:130442454-130442454 - SNU-C2B COSM4651134 c.2670C>T p.D890D Substitution - coding silent 12:130412770-130412770 - SS6003111 COSM1744270 c.1275C>T p.N425N Substitution - coding silent 12:130442026-130442026 - CHEWS006 COSM4575213 c.1089C>T p.T363T Substitution - coding silent 12:130442212-130442212 - T3021 COSM292238 c.2889C>T p.Y963Y Substitution - coding silent 12:130407762-130407762 - TCGA-AF-2687-01 COSM238099 c.2472C>T p.D824D Substitution - coding silent 12:130414305-130414305 - 587338 COSM1223741 c.133C>T p.R45W Substitution - Missense 12:130456670-130456670 - LUAD-F00365 COSM340371 c.1425C>T p.A475A Substitution - coding silent 12:130441876-130441876 - TCGA-BS-A0UF-01 COSM936997 c.2858C>T p.S953L Substitution - Missense 12:130407793-130407793 - TCGA-EE-A2GE-06 COSM3458109 c.2175C>T p.F725F Substitution - coding silent 12:130434761-130434761 - TCGA-DY-A1DF-01 COSM1566229 c.383G>A p.R128H Substitution - Missense 3:139453138-139453138 - 35M COSM3458104 c.2495C>T p.S832F Substitution - Missense 12:130414282-130414282 - PD23562a COSM5774156 c.2409G>T p.R803R Substitution - coding silent 12:130422514-130422514 - EV001-R8 COSM1161901 c.782G>A p.G261E Substitution - Missense 12:130442519-130442519 - ESCC-250T COSM3935831 c.1699C>T p.L567F Substitution - Missense 12:130437198-130437198 - C086 COSM5538244 c.1197G>A p.V399V Substitution - coding silent 12:130442104-130442104 - TCGA-06-0879 COSM2152321 c.1149G>A p.T383T Substitution - coding silent 12:130442152-130442152 - CSCC-31-T COSM4471178 c.1703C>T p.S568F Substitution - Missense 12:130437194-130437194 - TCGA-AC-A5XS-01 COSM98140 c.3100C>G p.Q1034E Substitution - Missense 12:130399711-130399711 - SJMB017 COSM255354 c.2536G>A p.E846K Substitution - Missense 12:130414241-130414241 - B60-Tumor COSM1746840 c.3138G>A p.K1046K Substitution - coding silent 12:130399156-130399156 - TCGA-06-6694-01 COSM3398528 c.765C>T p.S255S Substitution - coding silent 12:130442536-130442536 - TCGA-G5-6572-01 COSM3416627 c.726G>A p.T242T Substitution - coding silent 12:130442575-130442575 - Gp5D COSM4627010 c.1967T>A p.L656Q Substitution - Missense 12:130436930-130436930 - LN18 COSM2228358 c.2281G>A p.E761K Substitution - Missense 12:130428259-130428259 - S02293 COSM5688421 c.1424C>T p.A475V Substitution - Missense 12:130441877-130441877 - 12-P4072 COSM4575216 c.318C>T p.S106S Substitution - coding silent 12:130451330-130451330 - S02384 COSM5698212 c.1307G>T p.R436M Substitution - Missense 12:130441994-130441994 - PTC-7C COSM430736 c.2328G>A p.R776R Substitution - coding silent 12:130428212-130428212 - TCGA-CG-5733-01 COSM3124327 c.315C>T p.R105R Substitution - coding silent 3:139454768-139454768 - Pat_16_A COSM5840527 c.3134A>T p.K1045M Substitution - Missense 12:130399160-130399160 - TCGA-GC-A3RB-01 COSM1299122 c.1063G>A p.E355K Substitution - Missense 12:130442238-130442238 - TCGA-CG-4466-01 COSM430733 c.3037T>G p.F1013V Substitution - Missense 12:130399774-130399774 - TCGA-06-0155-01 COSM2149980 c.735C>T p.N245N Substitution - coding silent 12:130442566-130442566 - S02352 COSM937002 c.1953A>C p.S651S Substitution - coding silent 12:130436944-130436944 - T3246 COSM4721717 c.4C>T p.R2* Substitution - Nonsense 12:130479010-130479010 - L22 COSM728139 c.67G>T p.A23S Substitution - Missense 3:139476393-139476393 - HCC5T COSM3703959 c.889G>T p.V297L Substitution - Missense 12:130442412-130442412 - sysucc-1370T COSM5469921 c.2091C>T p.S697S Substitution - coding silent 12:130434845-130434845 - HT55 COSM2228360 c.2246G>T p.R749L Substitution - Missense 12:130428294-130428294 - Mx43 COSM50388 c.3116G>A p.R1039H Substitution - Missense 12:130399695-130399695 - T2197 COSM4721715 c.189G>A p.Q63Q Substitution - coding silent 12:130456614-130456614 - TCGA-18-3421-01 COSM728141 c.360G>T p.L120L Substitution - coding silent 3:139453161-139453161 - C086 COSM1299122 c.1063G>A p.E355K Substitution - Missense 12:130442238-130442238 - TCGA-D1-A103-01 COSM937002 c.1953A>C p.S651S Substitution - coding silent 12:130436944-130436944 - J9_T COSM3954411 c.534C>A p.Y178* Substitution - Nonsense 12:130445266-130445266 - HN11PT COSM98178 c.3032C>G p.S1011* Substitution - Nonsense 12:130399779-130399779 - TCGA-F5-6814-01 COSM176277 c.2922C>T p.V974V Substitution - coding silent 12:130407729-130407729 - 578 COSM3723376 c.527A>G p.Y176C Substitution - Missense 12:130450203-130450203 - TCGA-CD-A48A-01 COSM4113992 c.333T>G p.I111M Substitution - Missense 3:139454750-139454750 - TCGA-EE-A2MF-06 COSM4721709 c.871G>A p.D291N Substitution - Missense 12:130442430-130442430 - TCGA-PJ-A5Z8-01 COSM468017 c.1148C>T p.T383M Substitution - Missense 12:130442153-130442153 - TCGA-AA-A010-01 COSM176277 c.2922C>T p.V974V Substitution - coding silent 12:130407729-130407729 - 587304 COSM1223738 c.587C>T p.A196V Substitution - Missense 12:130445213-130445213 - C008 COSM5523690 c.1192C>G p.R398G Substitution - Missense 12:130442109-130442109 - TCGA-B0-5121-01 COSM468015 c.2717T>A p.I906N Substitution - Missense 12:130412723-130412723 - TCGA-BS-A0UV-01 COSM937017 c.483C>T p.S161S Substitution - coding silent 12:130450247-130450247 - LAU108 COSM235286 c.2589C>T p.T863T Substitution - coding silent 12:130414188-130414188 - TCGA-EI-6882-01 COSM3416626 c.1386G>A p.P462P Substitution - coding silent 12:130441915-130441915 - TCGA-CG-4465-01 COSM4040126 c.3037T>A p.F1013I Substitution - Missense 12:130399774-130399774 - TCGA-66-2785-01 COSM692276 c.1139T>A p.L380Q Substitution - Missense 12:130442162-130442162 - CHC307T COSM3667120 c.168G>A p.R56R Substitution - coding silent 12:130456635-130456635 - 8066440 COSM3772310 c.2578G>A p.D860N Substitution - Missense 12:130414199-130414199 - CHC1616T COSM4803693 c.711G>A p.S237S Substitution - coding silent 12:130442590-130442590 - PT36 COSM5916269 c.2794C>T p.P932S Substitution - Missense 12:130412646-130412646 - PD13761a COSM5790418 c.1167C>T p.D389D Substitution - coding silent 12:130442134-130442134 - 018 COSM145865 c.2168A>C p.D723A Substitution - Missense 12:130434768-130434768 - tumor_4135099 COSM3952881 c.2708T>C p.L903P Substitution - Missense 12:130412732-130412732 - TCGA-15-0742-01 COSM430741 c.705C>T p.N235N Substitution - coding silent 12:130442596-130442596 - TCGA-EB-A431-01 COSM3458111 c.2119G>A p.E707K Substitution - Missense 12:130434817-130434817 - TCGA-B0-4838-01 COSM3359620 c.2746G>A p.A916T Substitution - Missense 12:130412694-130412694 - TCGA-CD-A4MG-01 COSM4040127 c.2923G>A p.E975K Substitution - Missense 12:130407728-130407728 - PD4844a COSM164017 c.3132G>C p.R1044S Substitution - Missense 12:130399679-130399679 - 018-0046-01TD COSM145865 c.2168A>C p.D723A Substitution - Missense 12:130434768-130434768 - TCGA-AA-3492-01 COSM1360096 c.1504G>A p.A502T Substitution - Missense 12:130438466-130438466 - T3446 COSM4721713 c.387G>A p.E129E Substitution - coding silent 12:130451261-130451261 - 22T COSM3718447 c.2899G>A p.E967K Substitution - Missense 12:130407752-130407752 - TCGA-CG-4437-01 COSM176277 c.2922C>T p.V974V Substitution - coding silent 12:130407729-130407729 - HCC16 COSM1605784 c.455T>C p.M152T Substitution - Missense 12:130450275-130450275 - TCGA-G4-6323-01 COSM1360093 c.2061G>C p.E687D Substitution - Missense 12:130434875-130434875 - DN15001 COSM5962161 c.677C>A p.S226Y Substitution - Missense 12:130442624-130442624 - ICGC_MB61 COSM937005 c.1704C>T p.S568S Substitution - coding silent 12:130437193-130437193 - sysucc-1339T COSM5029577 c.1570G>A p.V524I Substitution - Missense 12:130438400-130438400 - S00832 COSM5660777 c.675C>A p.P225P Substitution - coding silent 12:130442626-130442626 - 2024537 COSM1716432 c.2482delC p.R828fs*94 Deletion - Frameshift 12:130414295-130414295 - CHOL48 COSM1744270 c.1275C>T p.N425N Substitution - coding silent 12:130442026-130442026 - 1_PRE-TREATMENT COSM1720262 c.662G>A p.R221K Substitution - Missense 12:130442639-130442639 - DLD1 COSM2228334 c.3148T>C p.F1050L Substitution - Missense 12:130399146-130399146 - TCGA-56-6545-01 COSM692279 c.1855G>T p.A619S Substitution - Missense 12:130437042-130437042 - BD49T COSM2228433 c.235delC p.L79fs*15 Deletion - Frameshift 12:130456568-130456568 - LUAD-B00523 COSM331742 c.1845G>T p.L615L Substitution - coding silent 12:130437052-130437052 - LUAD-CHTN-Z4716A COSM361723 c.2878C>A p.L960M Substitution - Missense 12:130407773-130407773 - 8033691 COSM3384146 c.2821+6C>T p.? Unknown 12:130412613-130412613 - TCGA-G4-6304-01 COSM5175796 c.85G>A p.A29T Substitution - Missense 3:139462279-139462279 - P122 COSM1736708 c.779A>T p.E260V Substitution - Missense 12:130442522-130442522 - DLD1 COSM4622492 c.1273A>G p.N425D Substitution - Missense 12:130442028-130442028 - pfg228T COSM4721704 c.1693C>T p.R565W Substitution - Missense 12:130437204-130437204 - HT55 COSM2228394 c.1277A>T p.E426V Substitution - Missense 12:130442024-130442024 - TCGA-EE-A29Q-06 COSM3458112 c.2116G>A p.E706K Substitution - Missense 12:130434820-130434820 - HCT116 COSM2228427 c.440G>T p.R147I Substitution - Missense 12:130451208-130451208 - SS6003111 COSM4054962 c.313C>T p.R105C Substitution - Missense 3:139454770-139454770 - Pat_32_A COSM5840529 c.2272G>A p.E758K Substitution - Missense 12:130428268-130428268 - TCGA-EB-A44N-01 COSM3458125 c.798C>T p.D266D Substitution - coding silent 12:130442503-130442503 - 2492730 COSM4475076 c.1960C>T p.R654C Substitution - Missense 12:130436937-130436937 - CHC892T COSM4961381 c.1178C>T p.A393V Substitution - Missense 12:130442123-130442123 - YULONE COSM2228429 c.417G>A p.S139S Substitution - coding silent 12:130451231-130451231 - TCGA-FS-A1YW-06 COSM3458121 c.1217C>T p.S406F Substitution - Missense 12:130442084-130442084 - TCGA-B5-A11H-01 COSM936996 c.2862G>A p.T954T Substitution - coding silent 12:130407789-130407789 - TCGA-DK-A3IN-01 COSM3792356 c.2145C>T p.F715F Substitution - coding silent 12:130434791-130434791 - TCGA-BS-A0TA-01 COSM355374 c.1903C>T p.H635Y Substitution - Missense 12:130436994-130436994 - PD4192a COSM219572 c.396C>T p.S132S Substitution - coding silent 12:130451252-130451252 - 477-02-8TD COSM3124327 c.315C>T p.R105R Substitution - coding silent 3:139454768-139454768 - PT37 COSM5920529 c.974G>A p.G325E Substitution - Missense 12:130442327-130442327 - TCGA-37-4141-01 COSM692280 c.2115C>T p.D705D Substitution - coding silent 12:130434821-130434821 - T3724 COSM4721698 c.2169C>T p.D723D Substitution - coding silent 12:130434767-130434767 - T3099 COSM937018 c.429C>T p.S143S Substitution - coding silent 12:130451219-130451219 - 2011-2335:2012-1340-T COSM2228434 c.223G>A p.A75T Substitution - Missense 12:130456580-130456580 - YUKLAB COSM1693521 c.28G>A p.E10K Substitution - Missense 3:139476432-139476432 - TCGA-FR-A44A-06 COSM3458120 c.1276G>A p.E426K Substitution - Missense 12:130442025-130442025 - T3202 COSM4720815 c.175C>T p.R59C Substitution - Missense 3:139462189-139462189 - I2L-P10-Tumor-Organoid COSM5361373 c.2359A>C p.K787Q Substitution - Missense 12:130428181-130428181 - PT32 COSM5907619 c.2755G>A p.E919K Substitution - Missense 12:130412685-130412685 - OSCC-GB_01380111 COSM5953852 c.263C>A p.T88N Substitution - Missense 3:139454820-139454820 - HCC28 COSM1605781 c.1669C>A p.L557M Substitution - Missense 12:130437228-130437228 - 587342 COSM1223415 c.305A>G p.K102R Substitution - Missense 3:139454778-139454778 - TCGA-EE-A29D-06 COSM3458130 c.606C>T p.V202V Substitution - coding silent 12:130445194-130445194 - SC_9096 COSM5559012 c.66C>T p.L22L Substitution - coding silent 12:130478948-130478948 - V-PH-04T COSM4770291 c.2170G>T p.D724Y Substitution - Missense 12:130434766-130434766 - Pa18C COSM84200 c.2551C>T p.R851W Substitution - Missense 12:130414226-130414226 - TCGA-AX-A062-01 COSM937013 c.928G>A p.A310T Substitution - Missense 12:130442373-130442373 - YUKIL COSM1706454 c.241A>C p.I81L Substitution - Missense 12:130456562-130456562 - TCGA-EE-A2A2-06 COSM3458102 c.2692G>A p.E898K Substitution - Missense 12:130412748-130412748 - CHC2099T COSM4793326 c.2247G>A p.R749R Substitution - coding silent 12:130428293-130428293 - ESCC-248T COSM3935833 c.530+2T>A p.? Unknown 12:130450198-130450198 - TCGA-AA-A010-01 COSM284518 c.106C>T p.R36C Substitution - Missense 3:139462258-139462258 - TCGA-CD-8531-01 COSM4040134 c.1471C>T p.Q491* Substitution - Nonsense 12:130438499-130438499 - GC_351T-GC_351N COSM2228425 c.498G>A p.S166S Substitution - coding silent 12:130450232-130450232 - SYN04PT2 COSM1732522 c.2194G>A p.G732S Substitution - Missense 12:130434742-130434742 - TCGA-AA-A01Z-01 COSM300440 c.585G>A p.T195T Substitution - coding silent 12:130445215-130445215 - SNU-C4 COSM4652167 c.2671G>A p.A891T Substitution - Missense 12:130412769-130412769 - CSCC-54-T COSM2228398 c.1100C>T p.S367F Substitution - Missense 12:130442201-130442201 - TCGA-06-0155 COSM2149980 c.735C>T p.N245N Substitution - coding silent 12:130442566-130442566 - Pat_46_A COSM5840532 c.1184C>T p.S395F Substitution - Missense 12:130442117-130442117 - STC291 COSM5051448 c.2563G>A p.A855T Substitution - Missense 12:130414214-130414214 - TCGA-16-1045-01 COSM937018 c.429C>T p.S143S Substitution - coding silent 12:130451219-130451219 - SJOS001119_D1 COSM1360100 c.983C>T p.T328M Substitution - Missense 12:130442318-130442318 - BD148T COSM5521218 c.3028C>T p.P1010S Substitution - Missense 12:130399783-130399783 - PD6729a2 COSM5785542 c.1663C>T p.R555W Substitution - Missense 12:130437234-130437234 - ICGC_MB61 COSM937005 c.1704C>T p.S568S Substitution - coding silent 12:130437193-130437193 - 49T COSM3714369 c.75T>G p.D25E Substitution - Missense 3:139462289-139462289 - TCGA-AA-A010-01 COSM299466 c.308-9C>T p.? Unknown 12:130451349-130451349 - 8031656 COSM3772312 c.2094G>A p.A698A Substitution - coding silent 12:130434842-130434842 - TCGA-DK-A1A7-01 COSM415955 c.2245C>T p.R749W Substitution - Missense 12:130428295-130428295 - BN05T COSM1605783 c.1623C>T p.F541F Substitution - coding silent 12:130437274-130437274 - pfg064T COSM4761391 c.196G>T p.G66C Substitution - Missense 12:130456607-130456607 - TCGA-AX-A0J1-01 COSM937014 c.725C>T p.T242M Substitution - Missense 12:130442576-130442576 - ME043T COSM228597 c.1753C>T p.L585F Substitution - Missense 12:130437144-130437144 - EV001-R5 COSM1161901 c.782G>A p.G261E Substitution - Missense 12:130442519-130442519 - RK237_C01 COSM4779738 c.2807C>T p.P936L Substitution - Missense 12:130412633-130412633 - TCGA-F5-6814-01 COSM255354 c.2536G>A p.E846K Substitution - Missense 12:130414241-130414241 - TCGA-36-1577-01 COSM78419 c.2819T>C p.I940T Substitution - Missense 12:130412621-130412621 - pfg378T COSM4761923 c.61A>C p.M21L Substitution - Missense 3:139476399-139476399 - TCGA-FJ-A3ZF-01 COSM1360097 c.1482C>T p.T494T Substitution - coding silent 12:130438488-130438488 - Pat_63_B COSM5840528 c.3100C>T p.Q1034* Substitution - Nonsense 12:130399711-130399711 - 1_RESISTANT COSM1720262 c.662G>A p.R221K Substitution - Missense 12:130442639-130442639 - CSCC-57-T COSM4475076 c.1960C>T p.R654C Substitution - Missense 12:130436937-130436937 - TCGA-AP-A0LM-01 COSM936999 c.2682C>T p.F894F Substitution - coding silent 12:130412758-130412758 - LIM1899 COSM4639846 c.1584C>T p.G528G Substitution - coding silent 12:130438386-130438386 - PT48 COSM5933134 c.1373C>T p.P458L Substitution - Missense 12:130441928-130441928 - TCGA-AF-6136-01 COSM3416625 c.2103C>T p.Y701Y Substitution - coding silent 12:130434833-130434833 - T3091 COSM4721716 c.29A>C p.Q10P Substitution - Missense 12:130478985-130478985 - 587374 COSM1223742 c.1233G>A p.W411* Substitution - Nonsense 12:130442068-130442068 - TCGA-B0-5698-01 COSM468019 c.337G>A p.A113T Substitution - Missense 12:130451311-130451311 - YUWAND COSM1693519 c.63G>A p.M21I Substitution - Missense 3:139476397-139476397 - AOCS-168-1-8 COSM3980902 c.690C>A p.D230E Substitution - Missense 12:130442611-130442611 - B22 COSM1746841 c.2113G>C p.D705H Substitution - Missense 12:130434823-130434823 - TCGA-18-5595-01 COSM728140 c.329G>A p.W110* Substitution - Nonsense 3:139454754-139454754 - PCSI_0602_Pa_P_526 COSM5761902 c.1946C>T p.S649L Substitution - Missense 12:130436951-130436951 - BN04 COSM1605779 c.2329C>A p.R777R Substitution - coding silent 12:130428211-130428211 - 8030340 COSM2228369 c.2163G>A p.S721S Substitution - coding silent 12:130434773-130434773 - T2269 COSM4720814 c.283G>C p.V95L Substitution - Missense 3:139454800-139454800 - pfg182T COSM4761381 c.3086C>T p.P1029L Substitution - Missense 12:130399725-130399725 - TCGA-AP-A0LD-01 COSM937006 c.1451C>T p.A484V Substitution - Missense 12:130441850-130441850 - HOP-92 COSM1684358 c.1077delG p.A360fs*93 Deletion - Frameshift 12:130442224-130442224 - YUKSI COSM3458102 c.2692G>A p.E898K Substitution - Missense 12:130412748-130412748 - CSCC-56-T COSM4512000 c.888C>T p.I296I Substitution - coding silent 12:130442413-130442413 - HX35T COSM1605781 c.1669C>A p.L557M Substitution - Missense 12:130437228-130437228 - TCGA-22-5478-01 COSM692278 c.1550G>T p.G517V Substitution - Missense 12:130438420-130438420 - HCC28T COSM1605782 c.1668C>A p.S556R Substitution - Missense 12:130437229-130437229 - TCGA-DB-A64S-01 COSM3968087 c.2092G>A p.A698T Substitution - Missense 12:130434844-130434844 - T6 COSM4475076 c.1960C>T p.R654C Substitution - Missense 12:130436937-130436937 - TCGA-CC-5258-01 COSM4933394 c.712C>A p.R238R Substitution - coding silent 12:130442589-130442589 - SN12C COSM1677479 c.22C>T p.R8W Substitution - Missense 12:130478992-130478992 - Pat_70_B COSM5840536 c.951G>A p.W317* Substitution - Nonsense 12:130442350-130442350 - EV001-R9 COSM1161901 c.782G>A p.G261E Substitution - Missense 12:130442519-130442519 - D19 COSM468018 c.1000G>A p.V334I Substitution - Missense 12:130442301-130442301 - SJMB017 COSM255354 c.2536G>A p.E846K Substitution - Missense 12:130414241-130414241 - TCGA-EE-A29E-06 COSM3458101 c.2719C>T p.P907S Substitution - Missense 12:130412721-130412721 - LUAD-NYU201 COSM371299 c.2578G>T p.D860Y Substitution - Missense 12:130414199-130414199 - CHC1611T COSM4789208 c.1122G>A p.R374R Substitution - coding silent 12:130442179-130442179 - Pat_32_B COSM5840529 c.2272G>A p.E758K Substitution - Missense 12:130428268-130428268 - TCGA-BS-A0TJ-01 COSM937001 c.2068A>G p.S690G Substitution - Missense 12:130434868-130434868 - PT55 COSM5942498 c.2215C>T p.H739Y Substitution - Missense 12:130428325-130428325 - 150 COSM3732998 c.1903C>A p.H635N Substitution - Missense 12:130436994-130436994 - ESO-887 COSM1264171 c.2158G>A p.A720T Substitution - Missense 12:130434778-130434778 - 2492721 COSM228597 c.1753C>T p.L585F Substitution - Missense 12:130437144-130437144 - TCGA-AA-3833-01 COSM271503 c.3107C>T p.T1036M Substitution - Missense 12:130399704-130399704 - TCGA-AR-A0U1-01 COSM430740 c.712C>T p.R238W Substitution - Missense 12:130442589-130442589 - pfg094T COSM4761384 c.1392G>T p.Q464H Substitution - Missense 12:130441909-130441909 - AOCS-130-1-0 COSM3980901 c.2435C>G p.P812R Substitution - Missense 12:130422488-130422488 - TCGA-BR-8363-01 COSM3716904 c.603C>T p.Y201Y Substitution - coding silent 12:130445197-130445197 - TCGA-EJ-5494-01 COSM937018 c.429C>T p.S143S Substitution - coding silent 12:130451219-130451219 - TCGA-09-2044-01 COSM69176 c.2811_2821+18del29 p.? Unknown LIM1215 COSM4204954 c.1629G>A p.T543T Substitution - coding silent 12:130437268-130437268 - C135 COSM4617320 c.1723G>T p.D575Y Substitution - Missense 12:130437174-130437174 - TCGA-EE-A3AG-06 COSM3588080 c.98T>C p.I33T Substitution - Missense 3:139462266-139462266 - S02277 COSM5683039 c.1094G>A p.R365H Substitution - Missense 12:130442207-130442207 - Au3 COSM5602207 c.736G>A p.E246K Substitution - Missense 12:130442565-130442565 - 540 COSM1644945 c.2452G>A p.V818M Substitution - Missense 12:130422471-130422471 - CADO-ES1 COSM4575212 c.3155_3156insC p.*1053fs? Insertion - Frameshift 12:130399138-130399139 - TCGA-CG-5721-01 COSM4040149 c.190C>T p.H64Y Substitution - Missense 12:130456613-130456613 - TCGA-AA-3697-01 COSM3753051 c.198C>G p.G66G Substitution - coding silent 12:130456605-130456605 - TCGA-A8-A079-01 COSM430739 c.1218C>T p.S406S Substitution - coding silent 12:130442083-130442083 - T3479 COSM4721711 c.766G>A p.G256S Substitution - Missense 12:130442535-130442535 - AOCS-155-3-5 COSM3980904 c.427A>T p.S143C Substitution - Missense 12:130451221-130451221 - CHC892T COSM4795598 c.1131G>A p.S377S Substitution - coding silent 12:130442170-130442170 - TCGA-EE-A2M5-06 COSM3458126 c.796G>A p.D266N Substitution - Missense 12:130442505-130442505 - PR-1043 COSM246986 c.350A>C p.Y117S Substitution - Missense 3:139454733-139454733 - TCGA-EB-A3Y7-01 COSM3458129 c.641-1G>A p.? Unknown 12:130442661-130442661 - TCGA-BS-A0UF-01 COSM936998 c.2791C>A p.L931I Substitution - Missense 12:130412649-130412649 - TCGA-D3-A5GO-06 COSM3458131 c.313G>A p.E105K Substitution - Missense 12:130451335-130451335 - HCC5 COSM3703959 c.889G>T p.V297L Substitution - Missense 12:130442412-130442412 - ML_97_T_01 COSM5038374 c.631T>G p.F211V Substitution - Missense 12:130445169-130445169 - LUAD-YKER9 COSM351960 c.2362-1G>C p.? Unknown 12:130422562-130422562 - CHC892T COSM4959568 c.232C>T p.P78S Substitution - Missense 12:130456571-130456571 - B23-Tumor COSM1746843 c.1414A>T p.K472* Substitution - Nonsense 12:130441887-130441887 - 2000120 COSM1644944 c.1204A>T p.I402F Substitution - Missense 12:130442097-130442097 - TCGA-HT-8564-01 COSM3398527 c.1922C>T p.P641L Substitution - Missense 12:130436975-130436975 - CSCC-60-T COSM4461452 c.1206C>T p.I402I Substitution - coding silent 12:130442095-130442095 - PD11376a COSM5773089 c.120G>T p.T40T Substitution - coding silent 3:139462244-139462244 - TCGA-A8-A079-01 COSM430741 c.705C>T p.N235N Substitution - coding silent 12:130442596-130442596 - TCGA-37-4135-01 COSM692277 c.1439C>G p.S480C Substitution - Missense 12:130441862-130441862 - TCGA-AP-A0LM-01 COSM937003 c.1942C>T p.R648W Substitution - Missense 12:130436955-130436955 - TCGA-A5-A0GI-01 COSM937007 c.1315T>C p.Y439H Substitution - Missense 12:130441986-130441986 - SS6003312 COSM3716904 c.603C>T p.Y201Y Substitution - coding silent 12:130445197-130445197 - I2L-P18-Tumor-Organoid COSM5361453 c.2903G>A p.S968N Substitution - Missense 12:130407748-130407748 - TCGA-CU-A0YO-01 COSM419795 c.77T>C p.I26T Substitution - Missense 3:139462287-139462287 - HCC28T COSM1605781 c.1669C>A p.L557M Substitution - Missense 12:130437228-130437228 - PD13622a COSM5780178 c.2583G>T p.P861P Substitution - coding silent 12:130414194-130414194 - TCGA-HT-7603-01 COSM3688050 c.2482C>T p.R828* Substitution - Nonsense 12:130414295-130414295 - TCGA-EE-A3JI-06 COSM3458127 c.753C>T p.F251F Substitution - coding silent 12:130442548-130442548 - TCGA-66-2785-01 COSM692273 c.423C>T p.S141S Substitution - coding silent 12:130451225-130451225 - CHC1209T COSM4804663 c.2196C>A p.G732G Substitution - coding silent 12:130434740-130434740 - CLL158 COSM1289712 c.1474G>T p.D492Y Substitution - Missense 12:130438496-130438496 - T1154 COSM4040132 c.1683C>T p.G561G Substitution - coding silent 12:130437214-130437214 - TCGA-D3-A1Q5-06 COSM1171886 c.2582C>T p.P861L Substitution - Missense 12:130414195-130414195 - PARBRK COSM2149980 c.735C>T p.N245N Substitution - coding silent 12:130442566-130442566 - TCGA-18-3415-01 COSM692272 c.326G>A p.G109E Substitution - Missense 12:130451322-130451322 - TCGA-AA-A00N-01 COSM277069 c.2641C>A p.Q881K Substitution - Missense 12:130414136-130414136 - ESCC_BICR_010T COSM5435883 c.1363C>T p.L455L Substitution - coding silent 12:130441938-130441938 - S00941 COSM5663627 c.1049C>A p.T350N Substitution - Missense 12:130442252-130442252 - TCGA-HT-8564-01 COSM937014 c.725C>T p.T242M Substitution - Missense 12:130442576-130442576 - TCGA-AA-3553-01 COSM292238 c.2889C>T p.Y963Y Substitution - coding silent 12:130407762-130407762 - B22-Tumor COSM1746841 c.2113G>C p.D705H Substitution - Missense 12:130434823-130434823 - 46M COSM5588802 c.375G>A p.Q125Q Substitution - coding silent 3:139453146-139453146 - TCGA-BT-A3PH-01 COSM1299121 c.1279G>T p.E427* Substitution - Nonsense 12:130442022-130442022 - 1N52-VS-1T52 COSM4976760 c.76C>T p.Q26* Substitution - Nonsense 12:130478938-130478938 - TCGA-EE-A2GJ-06 COSM3458105 c.2485G>A p.D829N Substitution - Missense 12:130414292-130414292 - TCGA-AA-3662-01 COSM3753050 c.1971A>G p.P657P Substitution - coding silent 12:130436926-130436926 - TCGA-EE-A29Q-06 COSM3458119 c.1439C>T p.S480F Substitution - Missense 12:130441862-130441862 - ICC002T COSM5824694 c.2418C>T p.P806P Substitution - coding silent 12:130422505-130422505 - TCGA-A3-3320-01 COSM1492848 c.1847G>A p.G616D Substitution - Missense 12:130437050-130437050 - Pat_40_A COSM5840530 c.2080G>A p.E694K Substitution - Missense 12:130434856-130434856 - TCGA-66-2727-01 COSM692281 c.2668G>T p.D890Y Substitution - Missense 12:130412772-130412772 - B34 COSM1746842 c.2066G>A p.R689K Substitution - Missense 12:130434870-130434870 - HCC2998 COSM937015 c.543C>T p.F181F Substitution - coding silent 12:130445257-130445257 - BN04T COSM1605779 c.2329C>A p.R777R Substitution - coding silent 12:130428211-130428211 - CHC2099T COSM4793326 c.2247G>A p.R749R Substitution - coding silent 12:130428293-130428293 - TCGA-GF-A4EO-06 COSM3458118 c.1576G>T p.G526C Substitution - Missense 12:130438394-130438394 - 93T COSM110683 c.147delC p.F50fs*20 Deletion - Frameshift 3:139462217-139462217 - TCGA-GF-A6C9-06 COSM4902073 c.235G>A p.D79N Substitution - Missense 3:139462129-139462129 - TCGA-AP-A056-01 COSM936995 c.3106A>G p.T1036A Substitution - Missense 12:130399705-130399705 - B60 COSM1746840 c.3138G>A p.K1046K Substitution - coding silent 12:130399156-130399156 - sysucc-1163T COSM1360096 c.1504G>A p.A502T Substitution - Missense 12:130438466-130438466 - PDA_035 COSM4999868 c.2224G>A p.E742K Substitution - Missense 12:130428316-130428316 - TCGA-AM-5821-01 COSM3753051 c.198C>G p.G66G Substitution - coding silent 12:130456605-130456605 - TCGA-BS-A0UF-01 COSM937008 c.1293C>T p.I431I Substitution - coding silent 12:130442008-130442008 - TCGA-AA-3510-01 COSM1360092 c.2867G>T p.R956I Substitution - Missense 12:130407784-130407784 - TCGA-F4-6570-01 COSM1419489 c.216C>T p.D72D Substitution - coding silent 3:139462148-139462148 - S01864 COSM5671594 c.1389G>A p.W463* Substitution - Nonsense 12:130441912-130441912 - S02291 COSM5686950 c.834C>A p.T278T Substitution - coding silent 12:130442467-130442467 - TCGA-AP-A0LM-01 COSM937008 c.1293C>T p.I431I Substitution - coding silent 12:130442008-130442008 - ME009T COSM223616 c.781G>A p.G261R Substitution - Missense 12:130442520-130442520 - TCGA-AG-A002-01 COSM263340 c.2428G>A p.A810T Substitution - Missense 12:130422495-130422495 - TCGA-G4-6321-01 COSM1360103 c.430G>A p.A144T Substitution - Missense 12:130451218-130451218 - TCGA-EE-A2ML-06 COSM3458107 c.2188G>A p.E730K Substitution - Missense 12:130434748-130434748 - TCGA-BS-A0UF-01 COSM937009 c.1287C>T p.F429F Substitution - coding silent 12:130442014-130442014 - TCGA-KR-A7K0-01 COSM4918095 c.338C>T p.A113V Substitution - Missense 12:130451310-130451310 - S00841 COSM317981 c.1212G>T p.Q404H Substitution - Missense 12:130442089-130442089 - AD35 COSM5966452 c.1275C>A p.N425K Substitution - Missense 12:130442026-130442026 - LUAD-F00282 COSM367109 c.1921C>A p.P641T Substitution - Missense 12:130436976-130436976 - PD4192a COSM219572 c.396C>T p.S132S Substitution - coding silent 12:130451252-130451252 - TCGA-EB-A44O-01 COSM2228354 c.2473G>A p.D825N Substitution - Missense 12:130414304-130414304 - Mx40 COSM50953 c.2124C>T p.D708D Substitution - coding silent 12:130434812-130434812 - HT115 COSM2228384 c.1644C>T p.A548A Substitution - coding silent 12:130437253-130437253 - 001 COSM1161901 c.782G>A p.G261E Substitution - Missense 12:130442519-130442519 - TCGA-AU-6004-01 COSM1360098 c.1327A>C p.N443H Substitution - Missense 12:130441974-130441974 - HT115 COSM2228393 c.1288G>A p.D430N Substitution - Missense 12:130442013-130442013 - BD221T COSM215511 c.1741G>A p.V581I Substitution - Missense 12:130437156-130437156 - DN15001 COSM5962096 c.678C>A p.S226S Substitution - coding silent 12:130442623-130442623 - 24 COSM3384147 c.1483G>A p.V495I Substitution - Missense 12:130438487-130438487 - TCGA-F1-6874-01 COSM50388 c.3116G>A p.R1039H Substitution - Missense 12:130399695-130399695 - T16 COSM219572 c.396C>T p.S132S Substitution - coding silent 12:130451252-130451252 - 587302 COSM1223739 c.1895G>T p.G632V Substitution - Missense 12:130437002-130437002 - TCGA-AX-A0J1-01 COSM271503 c.3107C>T p.T1036M Substitution - Missense 12:130399704-130399704 - C086 COSM5538246 c.807C>T p.S269S Substitution - coding silent 12:130442494-130442494 - TCGA-A7-A4SC-01 COSM3811479 c.1947G>T p.S649S Substitution - coding silent 12:130436950-130436950 - BD54T COSM5501938 c.2588C>A p.T863N Substitution - Missense 12:130414189-130414189 - LAU165 COSM233267 c.652G>A p.D218N Substitution - Missense 12:130442649-130442649 - TCGA-B5-A11U-01 COSM203741 c.1111G>A p.V371I Substitution - Missense 12:130442190-130442190 - TCGA-BR-4370-01 COSM255354 c.2536G>A p.E846K Substitution - Missense 12:130414241-130414241 - TCGA-D3-A5GR-06 COSM3458103 c.2646C>T p.I882I Substitution - coding silent 12:130414131-130414131 - 11M COSM5577001 c.1633G>A p.D545N Substitution - Missense 12:130437264-130437264 - TCGA-CG-4465-01 COSM3688050 c.2482C>T p.R828* Substitution - Nonsense 12:130414295-130414295 - TCGA-AN-A0FL-01 COSM430733 c.3037T>G p.F1013V Substitution - Missense 12:130399774-130399774 - 3885 COSM5043861 c.874A>G p.I292V Substitution - Missense 12:130442427-130442427 - PD22358a COSM5784142 c.3070T>C p.Y1024H Substitution - Missense 12:130399741-130399741 - HCC16T COSM1605784 c.455T>C p.M152T Substitution - Missense 12:130450275-130450275 - M14 COSM1677477 c.556G>A p.E186K Substitution - Missense 12:130445244-130445244 - TCGA-CM-5341-01 COSM3688049 c.2932C>A p.L978I Substitution - Missense 12:130406237-130406237 - TCGA-AX-A06H-01 COSM937010 c.1101C>T p.S367S Substitution - coding silent 12:130442200-130442200 - HCT8 COSM4633562 c.2133C>T p.D711D Substitution - coding silent 12:130434803-130434803 - TCGA-AP-A0LM-01 COSM270039 c.824C>T p.A275V Substitution - Missense 12:130442477-130442477 - TCGA-A6-6141-01 COSM1360100 c.983C>T p.T328M Substitution - Missense 12:130442318-130442318 - MD-253 COSM303107 c.984G>A p.T328T Substitution - coding silent 12:130442317-130442317 - BD189T COSM5508404 c.1209G>A p.T403T Substitution - coding silent 12:130442092-130442092 - LUAD-B00416 COSM355374 c.1903C>T p.H635Y Substitution - Missense 12:130436994-130436994 - BD233T COSM5508966 c.2249G>C p.G750A Substitution - Missense 12:130428291-130428291 - ME048T COSM223616 c.781G>A p.G261R Substitution - Missense 12:130442520-130442520 - TCGA-AP-A059-01 COSM937012 c.1056C>A p.A352A Substitution - coding silent 12:130442245-130442245 - ESO-859 COSM1240067 c.2451C>T p.P817P Substitution - coding silent 12:130422472-130422472 - HN16PT COSM98140 c.3100C>G p.Q1034E Substitution - Missense 12:130399711-130399711 - T2269 COSM4721693 c.3069C>A p.V1023V Substitution - coding silent 12:130399742-130399742 - S00841 COSM317981 c.1212G>T p.Q404H Substitution - Missense 12:130442089-130442089 - 8033610 COSM3384147 c.1483G>A p.V495I Substitution - Missense 12:130438487-130438487 - RK261_C02 COSM4943952 c.3010G>A p.G1004R Substitution - Missense 12:130399801-130399801 - TCGA-F5-6814-01 COSM937008 c.1293C>T p.I431I Substitution - coding silent 12:130442008-130442008 - 8069446 COSM1644945 c.2452G>A p.V818M Substitution - Missense 12:130422471-130422471 - TCGA-BQ-7061-01 COSM3986751 c.2142C>T p.D714D Substitution - coding silent 12:130434794-130434794 - PD4192a COSM219572 c.396C>T p.S132S Substitution - coding silent 12:130451252-130451252 - TCGA-EB-A3XB-01 COSM1677477 c.556G>A p.E186K Substitution - Missense 12:130445244-130445244 - CSCC-7-T COSM4472023 c.1755C>T p.L585L Substitution - coding silent 12:130437142-130437142 - PT08_2 COSM5893702 c.2785G>A p.G929S Substitution - Missense 12:130412655-130412655 - TCGA-BG-A2AE-01 COSM937005 c.1704C>T p.S568S Substitution - coding silent 12:130437193-130437193 - LUAD-LIP77 COSM342132 c.1240A>T p.T414S Substitution - Missense 12:130442061-130442061 - ESCC_25 COSM5626628 c.1837G>A p.E613K Substitution - Missense 12:130437060-130437060 - ESCC_51 COSM5630988 c.385G>C p.E129Q Substitution - Missense 12:130451263-130451263 - SA225 COSM212575 c.416C>T p.S139L Substitution - Missense 12:130451232-130451232 - TCGA-AA-3672-01 COSM267336 c.2321delG p.G774fs*16 Deletion - Frameshift 12:130428219-130428219 - TCGA-BR-8295-01 COSM4040130 c.2484A>G p.R828R Substitution - coding silent 12:130414293-130414293 - YUGURT COSM5374637 c.500G>A p.G167E Substitution - Missense 12:130450230-130450230 - 255 COSM430733 c.3037T>G p.F1013V Substitution - Missense 12:130399774-130399774 - pfg059T COSM430733 c.3037T>G p.F1013V Substitution - Missense 12:130399774-130399774 - 2497773 COSM5750418 c.544G>A p.D182N Substitution - Missense 12:130445256-130445256 - S01542 COSM4720814 c.283G>C p.V95L Substitution - Missense 3:139454800-139454800 - H1155 COSM937013 c.928G>A p.A310T Substitution - Missense 12:130442373-130442373 - TCGA-BR-8371-01 COSM3968087 c.2092G>A p.A698T Substitution - Missense 12:130434844-130434844 - SNUH_G76_S1 COSM4416543 c.3009T>C p.N1003N Substitution - coding silent 12:130399802-130399802 - TCGA-DM-A1D0-01 COSM1360099 c.1173G>A p.V391V Substitution - coding silent 12:130442128-130442128 - LUAD-RT-S01813 COSM392291 c.2077delC p.L693fs*1 Deletion - Frameshift 12:130434859-130434859 - TCGA-A8-A07I-01 COSM430743 c.371C>A p.P124H Substitution - Missense 12:130451277-130451277 - RH18C COSM4985126 c.2038G>A p.V680M Substitution - Missense 12:130436859-130436859 - TCGA-BS-A0UF-01 COSM1039117 c.57C>T p.G19G Substitution - coding silent 3:139476403-139476403 - TCGA-06-0213-01 COSM3398527 c.1922C>T p.P641L Substitution - Missense 12:130436975-130436975 - TCGA-76-6286-01 COSM430735 c.2408G>A p.R803Q Substitution - Missense 12:130422515-130422515 - HCT15 COSM2228334 c.3148T>C p.F1050L Substitution - Missense 12:130399146-130399146 - cSCCP1 COSM135619 c.1165G>A p.D389N Substitution - Missense 12:130442136-130442136 - TCGA-D9-A6EC-06 COSM4399993 c.3155C>T p.P1052L Substitution - Missense 12:130399139-130399139 - T2 COSM1744270 c.1275C>T p.N425N Substitution - coding silent 12:130442026-130442026 - 2492723 COSM228597 c.1753C>T p.L585F Substitution - Missense 12:130437144-130437144 - TCGA-AP-A054-01 COSM937018 c.429C>T p.S143S Substitution - coding silent 12:130451219-130451219 - C086 COSM4040139 c.948C>T p.G316G Substitution - coding silent 12:130442353-130442353 - CHC1743T COSM4484961 c.2878C>T p.L960L Substitution - coding silent 12:130407773-130407773 - T3090 COSM4721696 c.2863C>T p.R955W Substitution - Missense 12:130407788-130407788 - PT08_1 COSM5893702 c.2785G>A p.G929S Substitution - Missense 12:130412655-130412655 - CHC1611T COSM4789208 c.1122G>A p.R374R Substitution - coding silent 12:130442179-130442179 - TCGA-EW-A1OY-01 COSM1476326 c.702C>A p.D234E Substitution - Missense 12:130442599-130442599 - CHC307T COSM3667120 c.168G>A p.R56R Substitution - coding silent 12:130456635-130456635 - S02290 COSM5686436 c.1630delG p.A544fs*19 Deletion - Frameshift 12:130437267-130437267 - AOCS-104-1-6 COSM3980900 c.2925+9C>G p.? Unknown 12:130407717-130407717 - BN05 COSM1605783 c.1623C>T p.F541F Substitution - coding silent 12:130437274-130437274 - CSCC-41-T COSM4482421 c.2603C>T p.P868L Substitution - Missense 12:130414174-130414174 - HCC2998 COSM1677478 c.177G>T p.E59D Substitution - Missense 12:130456626-130456626 - YURTHE COSM1706455 c.82G>A p.E28K Substitution - Missense 12:130478932-130478932 - SW48 COSM3124331 c.155C>A p.T52K Substitution - Missense 3:139462209-139462209 - 2521243 COSM3458102 c.2692G>A p.E898K Substitution - Missense 12:130412748-130412748 - TCGA-06-0879-01 COSM2152321 c.1149G>A p.T383T Substitution - coding silent 12:130442152-130442152 - pfg373T COSM4761386 c.787C>A p.H263N Substitution - Missense 12:130442514-130442514 - TCGA-HU-8243-01 COSM4040129 c.2704C>T p.R902W Substitution - Missense 12:130412736-130412736 - T3225 COSM4721704 c.1693C>T p.R565W Substitution - Missense 12:130437204-130437204 - TCGA-D1-A16F-01 COSM937004 c.1854C>T p.H618H Substitution - coding silent 12:130437043-130437043 - sysucc-918T COSM2149103 c.2489G>A p.R830H Substitution - Missense 12:130414288-130414288 - TCGA-C8-A12Q-01 COSM430738 c.1230C>A p.S410S Substitution - coding silent 12:130442071-130442071 - TCGA-D9-A6EC-06 COSM4402586 c.195C>T p.F65F Substitution - coding silent 3:139462169-139462169 - BRC39 COSM5027717 c.2044G>A p.E682K Substitution - Missense 12:130436853-130436853 - TCGA-EE-A2MJ-06 COSM3458124 c.1002C>T p.V334V Substitution - coding silent 12:130442299-130442299 - TCGA-CD-8536-01 COSM4040132 c.1683C>T p.G561G Substitution - coding silent 12:130437214-130437214 - TCGA-AG-3592-01 COSM3416624 c.2389C>T p.R797W Substitution - Missense 12:130422534-130422534 - YUKIL COSM1706453 c.385G>A p.E129K Substitution - Missense 12:130451263-130451263 - OSCC-GB_00220111 COSM3718447 c.2899G>A p.E967K Substitution - Missense 12:130407752-130407752 - ESCC_BICR_052T COSM5434633 c.186G>A p.R62R Substitution - coding silent 12:130456617-130456617 - 2492720 COSM228597 c.1753C>T p.L585F Substitution - Missense 12:130437144-130437144 - TCGA-39-5027-01 COSM728139 c.67G>T p.A23S Substitution - Missense 3:139476393-139476393 - PCSI_0264_Pa_P_526 COSM3811481 c.1208C>T p.T403M Substitution - Missense 12:130442093-130442093 - PCSI_0240_Pa_P_526 COSM4808610 c.1361T>A p.V454D Substitution - Missense 12:130441940-130441940 - LUAD_E00623 COSM353796 c.705C>A p.N235K Substitution - Missense 12:130442596-130442596 - sysucc-1972T COSM430733 c.3037T>G p.F1013V Substitution - Missense 12:130399774-130399774 - Pat_63_B COSM5545711 c.589G>A p.G197R Substitution - Missense 12:130445211-130445211 - TCGA-EE-A2MC-06 COSM3458123 c.1130C>T p.S377L Substitution - Missense 12:130442171-130442171 - TCGA-AR-A256-01 COSM1476325 c.2652+1G>T p.? Unknown 12:130414124-130414124 - Gp2D COSM4627010 c.1967T>A p.L656Q Substitution - Missense 12:130436930-130436930 - MB_Exm23 COSM215511 c.1741G>A p.V581I Substitution - Missense 12:130437156-130437156 - YUDEDE COSM936997 c.2858C>T p.S953L Substitution - Missense 12:130407793-130407793 - TCGA-P4-A5EB-01 COSM3992780 c.16A>T p.N6Y Substitution - Missense 3:139476444-139476444 - YUKLAB COSM1693522 c.27G>A p.W9* Substitution - Nonsense 3:139476433-139476433 - T368 COSM4721695 c.2912A>G p.N971S Substitution - Missense 12:130407739-130407739 - TCGA-BR-8487-01 COSM4040147 c.393G>A p.L131L Substitution - coding silent 12:130451255-130451255 - ESO-0079 COSM1264165 c.3020G>T p.G1007V Substitution - Missense 12:130399791-130399791 - Pat_08_B COSM5840534 c.1108T>G p.C370G Substitution - Missense 12:130442193-130442193 - TCGA-E2-A1BD-01 COSM430742 c.384G>A p.P128P Substitution - coding silent 12:130451264-130451264 - pfg008T COSM4747880 c.2250delG p.S751fs*39 Deletion - Frameshift 12:130428290-130428290 - TCGA-C8-A133-01 COSM430737 c.2328G>T p.R776S Substitution - Missense 12:130428212-130428212 - T2932 COSM4720816 c.145A>G p.N49D Substitution - Missense 3:139462219-139462219 - HCC058T COSM5804762 c.1649A>T p.E550V Substitution - Missense 12:130437248-130437248 - WA46 COSM241417 c.2631T>A p.F877L Substitution - Missense 12:130414146-130414146 - STC263 COSM5059361 c.55G>T p.G19C Substitution - Missense 3:139476405-139476405 - TCGA-BP-4340-01 COSM3359621 c.2723G>C p.C908S Substitution - Missense 12:130412717-130412717 - 8062306 COSM84200 c.2551C>T p.R851W Substitution - Missense 12:130414226-130414226 - TCGA-CD-A4MJ-01 COSM4040141 c.636T>A p.Y212* Substitution - Nonsense 12:130445164-130445164 - EV001-R3 COSM1161901 c.782G>A p.G261E Substitution - Missense 12:130442519-130442519 - TCGA-A5-A0GP-01 COSM1039115 c.345G>A p.K115K Substitution - coding silent 3:139454738-139454738 - TCGA-FC-A5OB-01 COSM3671011 c.2140G>T p.D714Y Substitution - Missense 12:130434796-130434796 - C086 COSM5538242 c.835G>A p.D279N Substitution - Missense 12:130442466-130442466 - 46M COSM5588812 c.2416C>T p.P806S Substitution - Missense 12:130422507-130422507 - PT34 COSM5910810 c.3000G>A p.G1000G Substitution - coding silent 12:130399811-130399811 - RKO COSM4647548 c.1520C>T p.S507F Substitution - Missense 12:130438450-130438450 - sysucc-1365T COSM5766711 c.885C>T p.D295D Substitution - coding silent 12:130442416-130442416 - TCGA-EE-A2GP-06 COSM937009 c.1287C>T p.F429F Substitution - coding silent 12:130442014-130442014 - TCGA-BR-4184-01 COSM1264171 c.2158G>A p.A720T Substitution - Missense 12:130434778-130434778 - TCGA-37-5819-01 COSM692282 c.2895C>A p.P965P Substitution - coding silent 12:130407756-130407756 - TCGA-76-4932-01 COSM3398529 c.523C>T p.R175C Substitution - Missense 12:130450207-130450207 - TCGA-23-2079-01 COSM80452 c.1293C>A p.I431I Substitution - coding silent 12:130442008-130442008 - HN_62421 COSM125855 c.622G>A p.E208K Substitution - Missense 12:130445178-130445178 - TCGA-D1-A17M-01 COSM937020 c.192C>T p.H64H Substitution - coding silent 12:130456611-130456611 - 4 COSM4172075 c.2780G>A p.R927K Substitution - Missense 12:130412660-130412660 - T2269 COSM4721709 c.871G>A p.D291N Substitution - Missense 12:130442430-130442430 - TCGA-AA-A010-01 COSM284597 c.2814G>T p.E938D Substitution - Missense 12:130412626-130412626 - SNU-175 COSM1637672 c.1564G>A p.A522T Substitution - Missense 12:130438406-130438406 - TCGA-18-3409-01 COSM692271 c.267C>T p.F89F Substitution - coding silent 12:130456536-130456536 - 226 COSM3730199 c.365C>T p.P122L Substitution - Missense 12:130451283-130451283 - YUHEF COSM1693520 c.43G>A p.E15K Substitution - Missense 3:139476417-139476417 - OSCC-GB_01210111 COSM5954855 c.121G>A p.E41K Substitution - Missense 12:130456682-130456682 - CHC470T COSM3667119 c.1657C>A p.R553R Substitution - coding silent 12:130437240-130437240 - TCGA-A6-6780-01 COSM1360095 c.1542G>A p.T514T Substitution - coding silent 12:130438428-130438428 - SA084 COSM213508 c.130G>A p.D44N Substitution - Missense 3:139462234-139462234 - ESO-189 COSM1264170 c.1777C>T p.P593S Substitution - Missense 12:130437120-130437120 - TCGA-HU-A4GQ-01 COSM4040137 c.963G>A p.A321A Substitution - coding silent 12:130442338-130442338 - OSCC-GB_01120111 COSM4884767 c.1889C>A p.A630E Substitution - Missense 12:130437008-130437008 - TCGA-EE-A2MR-06 COSM2228354 c.2473G>A p.D825N Substitution - Missense 12:130414304-130414304 - T3109 COSM937014 c.725C>T p.T242M Substitution - Missense 12:130442576-130442576 - PT27 COSM5905923 c.1411G>A p.E471K Substitution - Missense 12:130441890-130441890 - SW48 COSM219572 c.396C>T p.S132S Substitution - coding silent 12:130451252-130451252 - B34-Tumor COSM1746842 c.2066G>A p.R689K Substitution - Missense 12:130434870-130434870 - TCGA-GF-A6C9-06 COSM4901325 c.2138C>T p.P713L Substitution - Missense 12:130434798-130434798 - TCGA-EE-A3JD-06 COSM1299122 c.1063G>A p.E355K Substitution - Missense 12:130442238-130442238 - 2250187 COSM5030536 c.2853G>A p.S951S Substitution - coding silent 12:130407798-130407798 - ESO-1145 COSM430733 c.3037T>G p.F1013V Substitution - Missense 12:130399774-130399774 - TCGA-AA-3715-01 COSM270039 c.824C>T p.A275V Substitution - Missense 12:130442477-130442477 - NPC38F COSM4995102 c.878G>C p.G293A Substitution - Missense 12:130442423-130442423 - HX35T COSM1605782 c.1668C>A p.S556R Substitution - Missense 12:130437229-130437229 - TCGA-04-1649-01 COSM1322648 c.959C>T p.P320L Substitution - Missense 12:130442342-130442342 - TCGA-CJ-5680-01 COSM468016 c.1402G>A p.E468K Substitution - Missense 12:130441899-130441899 - TCGA-BF-A1PZ-01 COSM4399171 c.299G>A p.G100E Substitution - Missense 3:139454784-139454784 - S02384 COSM5698211 c.3089C>A p.S1030Y Substitution - Missense 12:130399722-130399722 - TCGA-AG-3892-01 COSM257893 c.2962G>T p.V988F Substitution - Missense 12:130406207-130406207 - sysucc-1972T COSM4721704 c.1693C>T p.R565W Substitution - Missense 12:130437204-130437204 - TCGA-DA-A3F5-06 COSM3458113 c.2082G>C p.E694D Substitution - Missense 12:130434854-130434854 - CHC1616T COSM4803693 c.711G>A p.S237S Substitution - coding silent 12:130442590-130442590 - TCGA-DA-A1HY-06 COSM3458114 c.1860G>A p.R620R Substitution - coding silent 12:130437037-130437037 - GC_315T-GC_315N COSM4773844 c.3137A>T p.K1046M Substitution - Missense 12:130399157-130399157 - TCGA-FW-A3R5-06 COSM3871104 c.501G>A p.G167G Substitution - coding silent 12:130450229-130450229 - TCGA-EE-A29H-06 COSM176277 c.2922C>T p.V974V Substitution - coding silent 12:130407729-130407729 - TCGA-D3-A51G-06 COSM1677477 c.556G>A p.E186K Substitution - Missense 12:130445244-130445244 - HCC2998 COSM1677478 c.177G>T p.E59D Substitution - Missense 12:130456626-130456626 - CSCC-44-T COSM4461820 c.1221C>T p.A407A Substitution - coding silent 12:130442080-130442080 - pfg017T COSM1639075 c.1036C>T p.L346L Substitution - coding silent 12:130442265-130442265 - ESO-0079 COSM1264166 c.3002A>C p.E1001A Substitution - Missense 12:130399809-130399809 - TCGA-09-1675-01 COSM1322649 c.1129T>A p.S377T Substitution - Missense 12:130442172-130442172 - LP6005500-DNA_B03 COSM1677477 c.556G>A p.E186K Substitution - Missense 12:130445244-130445244 - 259 COSM3416626 c.1386G>A p.P462P Substitution - coding silent 12:130441915-130441915 - TCGA-FW-A5DY-06 COSM3458115 c.1836C>G p.D612E Substitution - Missense 12:130437061-130437061 - 117 COSM430733 c.3037T>G p.F1013V Substitution - Missense 12:130399774-130399774 - TCGA-B0-4816-01 COSM468017 c.1148C>T p.T383M Substitution - Missense 12:130442153-130442153 - CSCC-38-T COSM4563352 c.96G>A p.K32K Substitution - coding silent 3:139462268-139462268 - TCGA-ER-A194-01 COSM3458116 c.1823C>T p.P608L Substitution - Missense 12:130437074-130437074 - TCGA-02-2470-01 COSM2149103 c.2489G>A p.R830H Substitution - Missense 12:130414288-130414288 - T2969 COSM4721706 c.1192C>T p.R398W Substitution - Missense 12:130442109-130442109 - TCGA-HU-A4GQ-01 COSM1360100 c.983C>T p.T328M Substitution - Missense 12:130442318-130442318 - CHC1209T COSM4804663 c.2196C>A p.G732G Substitution - coding silent 12:130434740-130434740 - TCGA-26-5135-01 COSM3408285 c.53A>G p.E18G Substitution - Missense 3:139476407-139476407 - SJBALL021373_D1 COSM4994078 c.2648T>C p.I883T Substitution - Missense 12:130414129-130414129 - SS6003311 COSM3716904 c.603C>T p.Y201Y Substitution - coding silent 12:130445197-130445197 - TCGA-BR-7957-01 COSM4040145 c.422C>G p.S141C Substitution - Missense 12:130451226-130451226 - T2766 COSM430735 c.2408G>A p.R803Q Substitution - Missense 12:130422515-130422515 - CRC-02T COSM5454078 c.620A>G p.D207G Substitution - Missense 12:130445180-130445180 - CHC892T COSM4795598 c.1131G>A p.S377S Substitution - coding silent 12:130442170-130442170 - SC_9027 COSM5564575 c.466C>T p.R156W Substitution - Missense 12:130450264-130450264 - sysucc-771T COSM3772312 c.2094G>A p.A698A Substitution - coding silent 12:130434842-130434842 - VLTS-1 COSM5702822 c.604G>A p.V202I Substitution - Missense 12:130445196-130445196 - LUAD-LC15C COSM341685 c.2552G>T p.R851L Substitution - Missense 12:130414225-130414225 - TCGA-D1-A103-01 COSM937011 c.1070T>A p.L357H Substitution - Missense 12:130442231-130442231 - TCGA-BQ-5882-01 COSM3992779 c.54G>T p.E18D Substitution - Missense 3:139476406-139476406 - TCGA-EE-A2GP-06 COSM3458133 c.169G>A p.D57N Substitution - Missense 12:130456634-130456634 - D28 COSM5545711 c.589G>A p.G197R Substitution - Missense 12:130445211-130445211 - TCGA-09-2044-01 COSM69176 c.2811_2821+18del29 p.? Unknown 8069456 COSM2228364 c.2204C>T p.P735L Substitution - Missense 12:130428336-130428336 - TCGA-BR-A4QL-01 COSM4040139 c.948C>T p.G316G Substitution - coding silent 12:130442353-130442353 - CCK81 COSM2228433 c.235delC p.L79fs*15 Deletion - Frameshift 12:130456568-130456568 - YULONE COSM5374634 c.2865G>A p.R955R Substitution - coding silent 12:130407786-130407786 - TCGA-FW-A3R5-06 COSM3871097 c.2153G>A p.R718K Substitution - Missense 12:130434783-130434783 - GHE0645 COSM5714578 c.1645G>A p.V549M Substitution - Missense 12:130437252-130437252 - TCGA-G4-6311-01 COSM3688050 c.2482C>T p.R828* Substitution - Nonsense 12:130414295-130414295 - TCGA-A3-3316-01 COSM468018 c.1000G>A p.V334I Substitution - Missense 12:130442301-130442301 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.655516 3q23 180280 Hs.657414;Hs.657417;Hs.657418;Hs.657419;Hs.657420;Hs.657422;Hs.657424;Hs.657425;Hs.657428;Hs.657429;Hs.657431;Hs.657432;Hs.657433;Hs.657434;Hs.657436;Hs.657438;Hs.657439;Hs.657441 12q24.33 611602

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.I26T c.77T>C 3 139181129 BLCA A G Missense p.I33T c.98T>C 3 139181108 CM A T Missense p.D92E c.276T>A 3 139173649 LUAD A T Missense p.V35E c.104T>A 3 139181102 LUAD C A Missense p.A23S c.67G>T 3 139195235 LUSC C A Synonymous p.L120L c.360G>T 3 139172003 LUSC C T Missense p.D27N c.79G>A 3 139181127 LUAD C T Missense p.D44N c.130G>A 3 139181076 BRCA C T Missense p.E101K c.301G>A 3 139173624 LUAD C T Missense p.G100E c.299G>A 3 139173626 CM C T Missense p.R81Q c.242G>A 3 139180964 LUAD C T Nonsense p.W107* c.320G>A 3 139173605 HNSC C T Nonsense p.W110* c.329G>A 3 139173596 LUSC C T Synonymous p.K115K c.345G>A 3 139173580 UCEC C T Synonymous p.K41K c.123G>A 3 139181083 CM G A IntronicSNV . c.74-35C>T 3 139181167 NSCLC G A Synonymous p.R105R c.315C>T 3 139173610 STAD T C Missense p.E18G c.53A>G 3 139195249 GBM AA - IntronicDeletion . c.2997+958_2997+959delTT 12 130889758 CM A C Missense p.F1013V c.3037T>G 12 130884319 BRCA A C Missense p.F1013V c.3037T>G 12 130884319 ESCA A C Missense p.F1013V c.3037T>G 12 130884319 STAD A C Missense p.M448R c.1343T>G 12 130926503 CM A G 3-UTRSNV . c.3156+95T>C 12 130883588 ESCA A G Missense p.I940T c.2819T>C 12 130897166 OV A G Missense p.L1008P c.3023T>C 12 130884333 CM A G Missense p.Y439H c.1315T>C 12 130926531 UCEC ATAGGGGTTTGCGCTTACCTATTTTCTCC - SpliceDonorDeletion . c.2811_2821+18delGGAGAAAATAGGTAAGCGCAAACCCCTAT 12 130897146 OV A T Missense p.C362S c.1084T>A 12 130926762 LUAD A T Missense p.F1013I c.3037T>A 12 130884319 STAD C A IntronicSNV . c.102+8202G>T 12 130955255 HC C A Missense p.A619S c.1855G>T 12 130921587 LUSC C A Missense p.A624S c.1870G>T 12 130921572 LUAD C A Missense p.D492Y c.1474G>T 12 130923041 CLL C A Missense p.D714Y c.2140G>T 12 130919341 PRAD C A Missense p.D890Y c.2668G>T 12 130897317 LUSC C A Missense p.G1007V c.3020G>T 12 130884336 ESCA C A Missense p.G517V c.1550G>T 12 130922965 LUSC C A Missense p.K716N c.2148G>T 12 130919333 LUAD C A Missense p.Q404H c.1212G>T 12 130926634 SCLC C A Missense p.R749L c.2246G>T 12 130912839 CM C A Missense p.S331I c.992G>T 12 130926854 HNSC C A Nonsense p.E39* c.115G>T 12 130941233 LUAD C A Nonsense p.E427* c.1279G>T 12 130926567 BLCA C A Nonsense p.E49* c.145G>T 12 130941203 LUAD C A Nonsense p.E687* c.2059G>T 12 130919422 COREAD C A Nonsense p.G293* c.877G>T 12 130926969 LUAD C A SpliceDonorSNV . c.2652+1G>T 12 130898669 BRCA C A Synonymous p.A196A c.588G>T 12 130929757 LUAD C A Synonymous p.P462P c.1386G>T 12 130926460 HNSC C A Synonymous p.P462P c.1386G>T 12 130926460 LUAD C - Frameshift p.G327Efs*3 c.980delG 12 130926866 LUAD C G Missense p.C908S c.2723G>C 12 130897262 RCCC C G Missense p.E694D c.2082G>C 12 130919399 CM C G Missense p.E873D c.2619G>C 12 130898703 UCEC C G Missense p.Q813H c.2439G>C 12 130907029 LUAD C G Missense p.R1044S c.3132G>C 12 130884224 BRCA C G SpliceDonorSNV . c.307+1G>C 12 130941040 BRCA C T IntronicSNV . c.2652+4C>T 12 130898666 GBM C T Missense p.A113T c.337G>A 12 130935856 RCCC C T Missense p.A310T c.928G>A 12 130926918 UCEC C T Missense p.A435T c.1303G>A 12 130926543 STAD C T Missense p.A720T c.2158G>A 12 130919323 ESCA C T Missense p.A916T c.2746G>A 12 130897239 RCCC C T Missense p.D266N c.796G>A 12 130927050 CM C T Missense p.D291N c.871G>A 12 130926975 CM C T Missense p.D57N c.169G>A 12 130941179 CM C T Missense p.D829N c.2485G>A 12 130898837 CM C T Missense p.D918N c.2752G>A 12 130897233 CM C T Missense p.E186K c.556G>A 12 130929789 CM C T Missense p.E208K c.622G>A 12 130929723 HNSC C T Missense p.E236K c.706G>A 12 130927140 COREAD C T Missense p.E355K c.1063G>A 12 130926783 BLCA C T Missense p.E355K c.1063G>A 12 130926783 CM C T Missense p.E426K c.1276G>A 12 130926570 CM C T Missense p.E468K c.1402G>A 12 130926444 RCCC C T Missense p.E682K c.2044G>A 12 130921398 BRCA C T Missense p.E706K c.2116G>A 12 130919365 CM C T Missense p.E730K c.2188G>A 12 130919293 CM C T Missense p.E767K c.2299G>A 12 130912786 CM C T Missense p.E846K c.2536G>A 12 130898786 HNSC C T Missense p.E846K c.2536G>A 12 130898786 STAD C T Missense p.E898K c.2692G>A 12 130897293 CM C T Missense p.E913K c.2737G>A 12 130897248 CM C T Missense p.G109E c.326G>A 12 130935867 LUSC C T Missense p.G142S c.424G>A 12 130935769 COREAD C T Missense p.G183E c.548G>A 12 130929797 CM C T Missense p.G244E c.731G>A 12 130927115 CM C T Missense p.G261R c.781G>A 12 130927065 CM C T Missense p.G561D c.1682G>A 12 130921760 CM C T Missense p.G796R c.2386G>A 12 130907082 CM C T Missense p.G802S c.2404G>A 12 130907064 CM C T Missense p.M342I c.1026G>A 12 130926820 CM C T Missense p.R1039H c.3116G>A 12 130884240 STAD C T Missense p.R803Q c.2408G>A 12 130907060 BRCA C T Missense p.R803Q c.2408G>A 12 130907060 GBM C T Missense p.R830H c.2489G>A 12 130898833 GBM C T Missense p.R851W c.2551C>T 12 130898771 PAAD C T Missense p.R955Q c.2864G>A 12 130892332 CM C T Missense p.V334I c.1000G>A 12 130926846 RCCC C T Missense p.V371I c.1111G>A 12 130926735 UCEC C T Missense p.V549M c.1645G>A 12 130921797 HNSC C T Missense p.V581I c.1741G>A 12 130921701 HNSC C T Missense p.V581I c.1741G>A 12 130921701 MB C T Missense p.V972I c.2914G>A 12 130892282 HNSC C T Synonymous p.K168K c.504G>A 12 130934771 CM C T Synonymous p.K451K c.1353G>A 12 130926493 CM C T Synonymous p.P128P c.384G>A 12 130935809 BRCA C T Synonymous p.P849P c.2547G>A 12 130898775 LUAD C T Synonymous p.Q33Q c.99G>A 12 130963460 CM C T Synonymous p.R555R c.1665G>A 12 130921777 CM C T Synonymous p.R620R c.1860G>A 12 130921582 CM C T Synonymous p.T195T c.585G>A 12 130929760 COREAD C T Synonymous p.T383T c.1149G>A 12 130926697 GBM C T Synonymous p.T954T c.2862G>A 12 130892334 UCEC G A Missense p.H1049Y c.3145C>T 12 130883694 CM G A Missense p.H635Y c.1903C>T 12 130921539 UCEC G A Missense p.H800Y c.2398C>T 12 130907070 CM G A Missense p.L585F c.1753C>T 12 130921689 CM G A Missense p.P270L c.809C>T 12 130927037 HNSC G A Missense p.P593S c.1777C>T 12 130921665 ESCA G A Missense p.P608L c.1823C>T 12 130921619 CM G A Missense p.P641L c.1922C>T 12 130921520 GBM G A Missense p.P806S c.2416C>T 12 130907052 CM G A Missense p.P861L c.2582C>T 12 130898740 CM G A Missense p.R156W c.466C>T 12 130934809 CM G A Missense p.R175C c.523C>T 12 130934752 GBM G A Missense p.R238Q c.713G>A 12 130927133 GBM G A Missense p.R238W c.712C>T 12 130927134 BRCA G A Missense p.R56W c.166C>T 12 130941182 HNSC G A Missense p.R749W c.2245C>T 12 130912840 BLCA G A Missense p.S139L c.416C>T 12 130935777 BRCA G A Missense p.S377L c.1130C>T 12 130926716 CM G A Missense p.S406F c.1217C>T 12 130926629 CM G A Missense p.S480F c.1439C>T 12 130926407 CM G A Missense p.S721L c.2162C>T 12 130919319 CM G A Missense p.S766F c.2297C>T 12 130912788 CM G A Missense p.S832F c.2495C>T 12 130898827 CM G A Missense p.S99F c.296C>T 12 130941052 CM G A Missense p.T383M c.1148C>T 12 130926698 RCCC G A Nonsense p.R828* c.2482C>T 12 130898840 LGG G A Nonsense p.R828* c.2482C>T 12 130898840 STAD G A Synonymous p.A502A c.1506C>T 12 130923009 CM G A Synonymous p.D705D c.2115C>T 12 130919366 LUSC G A Synonymous p.D741D c.2223C>T 12 130912862 HNSC G A Synonymous p.D755D c.2265C>T 12 130912820 LUAD G A Synonymous p.F228F c.684C>T 12 130927162 CM G A Synonymous p.F251F c.753C>T 12 130927093 CM G A Synonymous p.F715F c.2145C>T 12 130919336 BLCA G A Synonymous p.F725F c.2175C>T 12 130919306 CM G A Synonymous p.H618H c.1854C>T 12 130921588 UCEC G A Synonymous p.H64H c.192C>T 12 130941156 UCEC G A Synonymous p.I264I c.792C>T 12 130927054 CM G A Synonymous p.I431I c.1293C>T 12 130926553 HNSC G A Synonymous p.L344L c.1032C>T 12 130926814 LUAD G A Synonymous p.L346L c.1036C>T 12 130926810 STAD G A Synonymous p.L960L c.2878C>T 12 130892318 CM G A Synonymous p.N235N c.705C>T 12 130927141 BRCA G A Synonymous p.N235N c.705C>T 12 130927141 GBM G A Synonymous p.N245N c.735C>T 12 130927111 GBM G A Synonymous p.N971N c.2913C>T 12 130892283 BRCA G A Synonymous p.P225P c.675C>T 12 130927171 HNSC G A Synonymous p.P817P c.2451C>T 12 130907017 ESCA G A Synonymous p.S143S c.429C>T 12 130935764 GBM G A Synonymous p.S143S c.429C>T 12 130935764 PRAD G A Synonymous p.S143S c.429C>T 12 130935764 UCEC G A Synonymous p.S255S c.765C>T 12 130927081 GBM G A Synonymous p.S367S c.1101C>T 12 130926745 UCEC G A Synonymous p.S406S c.1218C>T 12 130926628 BRCA G A Synonymous p.S568S c.1704C>T 12 130921738 MB G A Synonymous p.S568S c.1704C>T 12 130921738 UCEC G A Synonymous p.S74S c.222C>T 12 130941126 CM G A Synonymous p.V334V c.1002C>T 12 130926844 CM G A Synonymous p.V974V c.2922C>T 12 130892274 CM G A Synonymous p.V974V c.2922C>T 12 130892274 STAD G A Synonymous p.Y963Y c.2889C>T 12 130892307 COREAD G C IntronicSNV . c.2998-58C>G 12 130884416 NSCLC G C Missense p.P122R c.365C>G 12 130935828 SCLC G C Missense p.P792A c.2374C>G 12 130907094 LUAD G C Missense p.S480C c.1439C>G 12 130926407 LUSC G C Nonsense p.S599* c.1796C>G 12 130921646 HNSC G - Frameshift p.P735Rfs*55 c.2204delC 12 130912881 LUAD G - Frameshift p.R674Gfs*13 c.2020delC 12 130921422 NB GG AA Missense p.L121F c.360_361delinsTT 12 130935832 CM G T Missense p.A4E c.11C>A 12 130963548 LUAD G T Missense p.D234E c.702C>A 12 130927144 BRCA G T Missense p.D964E c.2892C>A 12 130892304 HNSC G T Missense p.F92L c.276C>A 12 130941072 COREAD G T Missense p.L216I c.646C>A 12 130927200 STAD G T Missense p.P124H c.371C>A 12 130935822 BRCA G T Missense p.P193T c.577C>A 12 130929768 LUSC G T Missense p.P320Q c.959C>A 12 130926887 LUAD G T Missense p.P601Q c.1802C>A 12 130921640 PRAD G T Missense p.Q26K c.76C>A 12 130963483 LUAD G T Missense p.R365S c.1093C>A 12 130926753 LUAD G T Missense p.S712Y c.2135C>A 12 130919346 LUAD G T Missense p.S747R c.2241C>A 12 130912844 LUAD G T Synonymous p.I431I c.1293C>A 12 130926553 OV G T Synonymous p.P965P c.2895C>A 12 130892301 LUSC G T Synonymous p.S410S c.1230C>A 12 130926616 BRCA T A Missense p.N227I c.680A>T 12 130927166 ESCA TCG - InFrameDeletion p.D760delD c.2280_2282delCGA 12 130912803 LUSC T C Missense p.K600E c.1798A>G 12 130921644 HNSC T C Missense p.S690G c.2068A>G 12 130919413 UCEC T C Missense p.T304A c.910A>G 12 130926936 COREAD T C Missense p.Y176C c.527A>G 12 130934748 HNSC T G IntronicSNV . c.103-5428A>C 12 130946673 CLL T G Missense p.D723A c.2168A>C 12 130919313 CLL T G Missense p.E1001A c.3002A>C 12 130884354 ESCA