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 2 139308578 139308578 + Silent SNP C C T TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr2:139308578C>T c.306C>T c.(304-306)ttC>ttT p.F102F BLCA 2 139310159 139310159 + Missense_Mutation SNP G G A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 g.chr2:139310159G>A c.388G>A c.(388-390)Gac>Aac p.D130N BLCA 2 139316858 139316858 + Missense_Mutation SNP C C T TCGA-5N-A9KM-01A-11D-A42E-08 TCGA-5N-A9KM-10A-01D-A42H-08 g.chr2:139316858C>T c.665C>T c.(664-666)tCt>tTt p.S222F BLCA 2 139316861 139316861 + Missense_Mutation SNP C C T TCGA-5N-A9KM-01A-11D-A42E-08 TCGA-5N-A9KM-10A-01D-A42H-08 g.chr2:139316861C>T c.668C>T c.(667-669)cCa>cTa p.P223L BLCA 2 139318471 139318471 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr2:139318471G>C c.811G>C c.(811-813)Gac>Cac p.D271H BLCA 2 139322404 139322404 + Missense_Mutation SNP A A G TCGA-GU-A767-01A-11D-A32B-08 TCGA-GU-A767-10A-01D-A329-08 g.chr2:139322404A>G c.964A>G c.(964-966)Ata>Gta p.I322V BLCA 2 139326581 139326581 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr2:139326581C>T c.1110C>T c.(1108-1110)gcC>gcT p.A370A BRCA 2 139308479 139308479 + Silent SNP G G T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:139308479G>T c.207G>T c.(205-207)ctG>ctT p.L69L BRCA 2 139316712 139316712 + Missense_Mutation SNP G G T TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 g.chr2:139316712G>T c.601G>T c.(601-603)Gac>Tac p.D201Y BRCA 2 139316724 139316724 + Missense_Mutation SNP T T C TCGA-D8-A1JK-01A-11D-A13L-09 TCGA-D8-A1JK-10A-01D-A13O-09 g.chr2:139316724T>C c.613T>C c.(613-615)Ttc>Ctc p.F205L BRCA 2 139326537 139326537 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr2:139326537T>G c.1066T>G c.(1066-1068)Tgg>Ggg p.W356G CESC 2 139308479 139308479 + Silent SNP G G A TCGA-FU-A23L-01A-11D-A16O-08 TCGA-FU-A23L-10A-01D-A16O-08 g.chr2:139308479G>A c.207G>A c.(205-207)ctG>ctA p.L69L CESC 2 139326556 139326556 + Missense_Mutation SNP C C G TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 g.chr2:139326556C>G c.1085C>G c.(1084-1086)tCt>tGt p.S362C CESC 2 139326585 139326585 + Nonsense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 g.chr2:139326585C>T c.1114C>T c.(1114-1116)Cga>Tga p.R372* COAD 2 139308058 139308058 + Missense_Mutation SNP A A C TCGA-AA-3666-01A-02W-0900-09 TCGA-AA-3666-10A-01W-0900-09 g.chr2:139308058A>C c.84A>C c.(82-84)aaA>aaC p.K28N COAD 2 139308072 139308072 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr2:139308072C>T c.98C>T c.(97-99)tCc>tTc p.S33F COAD 2 139308136 139308136 + Missense_Mutation SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:139308136T>G c.162T>G c.(160-162)agT>agG p.S54R COAD 2 139308478 139308478 + Missense_Mutation SNP T T C TCGA-AZ-6603-01A-11D-1835-10 TCGA-AZ-6603-11A-02D-1835-10 g.chr2:139308478T>C c.206T>C c.(205-207)cTg>cCg p.L69P COAD 2 139308478 139308478 + Missense_Mutation SNP T T C TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr2:139308478T>C c.206T>C c.(205-207)cTg>cCg p.L69P COAD 2 139308478 139308478 + Missense_Mutation SNP T T C TCGA-F4-6704-01A-11D-1835-10 TCGA-F4-6704-11A-01D-1835-10 g.chr2:139308478T>C c.206T>C c.(205-207)cTg>cCg p.L69P COAD 2 139308601 139308601 + Missense_Mutation SNP A A G TCGA-DM-A28E-01A-11D-A16V-10 TCGA-DM-A28E-10A-01D-A16V-10 g.chr2:139308601A>G c.329A>G c.(328-330)aAa>aGa p.K110R COAD 2 139310141 139310141 + Nonsense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:139310141C>T c.370C>T c.(370-372)Cga>Tga p.R124* COAD 2 139316751 139316751 + Missense_Mutation SNP C C G TCGA-D5-6541-01A-11D-1719-10 TCGA-D5-6541-10A-01D-1719-10 g.chr2:139316751C>G c.640C>G c.(640-642)Cat>Gat p.H214D COAD 2 139318395 139318395 + Missense_Mutation SNP T T G TCGA-CA-6716-01A-11D-1835-10 TCGA-CA-6716-10A-01D-1835-10 g.chr2:139318395T>G c.735T>G c.(733-735)gaT>gaG p.D245E COAD 2 139318487 139318487 + Missense_Mutation SNP C C T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr2:139318487C>T c.827C>T c.(826-828)gCt>gTt p.A276V COADREAD 2 139308058 139308058 + Missense_Mutation SNP A A C TCGA-AA-3666-01A-02W-0900-09 TCGA-AA-3666-10A-01W-0900-09 g.chr2:139308058A>C c.84A>C c.(82-84)aaA>aaC p.K28N COADREAD 2 139308072 139308072 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr2:139308072C>T c.98C>T c.(97-99)tCc>tTc p.S33F COADREAD 2 139308136 139308136 + Missense_Mutation SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:139308136T>G c.162T>G c.(160-162)agT>agG p.S54R COADREAD 2 139308478 139308478 + Missense_Mutation SNP T T C TCGA-AZ-6603-01A-11D-1835-10 TCGA-AZ-6603-11A-02D-1835-10 g.chr2:139308478T>C c.206T>C c.(205-207)cTg>cCg p.L69P COADREAD 2 139308478 139308478 + Missense_Mutation SNP T T C TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr2:139308478T>C c.206T>C c.(205-207)cTg>cCg p.L69P COADREAD 2 139308478 139308478 + Missense_Mutation SNP T T C TCGA-F4-6704-01A-11D-1835-10 TCGA-F4-6704-11A-01D-1835-10 g.chr2:139308478T>C c.206T>C c.(205-207)cTg>cCg p.L69P COADREAD 2 139308601 139308601 + Missense_Mutation SNP A A G TCGA-DM-A28E-01A-11D-A16V-10 TCGA-DM-A28E-10A-01D-A16V-10 g.chr2:139308601A>G c.329A>G c.(328-330)aAa>aGa p.K110R COADREAD 2 139310141 139310141 + Nonsense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:139310141C>T c.370C>T c.(370-372)Cga>Tga p.R124* COADREAD 2 139316751 139316751 + Missense_Mutation SNP C C G TCGA-D5-6541-01A-11D-1719-10 TCGA-D5-6541-10A-01D-1719-10 g.chr2:139316751C>G c.640C>G c.(640-642)Cat>Gat p.H214D COADREAD 2 139318395 139318395 + Missense_Mutation SNP T T G TCGA-CA-6716-01A-11D-1835-10 TCGA-CA-6716-10A-01D-1835-10 g.chr2:139318395T>G c.735T>G c.(733-735)gaT>gaG p.D245E COADREAD 2 139318487 139318487 + Missense_Mutation SNP C C T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr2:139318487C>T c.827C>T c.(826-828)gCt>gTt p.A276V ESCA 2 139308489 139308489 + Missense_Mutation SNP C C A TCGA-LN-A4A9-01A-11D-A28B-09 TCGA-LN-A4A9-10A-01D-A28E-09 g.chr2:139308489C>A c.217C>A c.(217-219)Cca>Aca p.P73T ESCA 2 139308582 139308582 + Missense_Mutation SNP T T A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 g.chr2:139308582T>A c.310T>A c.(310-312)Ttt>Att p.F104I ESCA 2 139326574 139326574 + Missense_Mutation SNP C C A TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 g.chr2:139326574C>A c.1103C>A c.(1102-1104)gCa>gAa p.A368E GBMLGG 2 139308482 139308482 + Silent SNP G G A TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 g.chr2:139308482G>A c.210G>A c.(208-210)agG>agA p.R70R HNSC 2 139308504 139308504 + Missense_Mutation SNP G G A TCGA-BB-7870-01A-11D-2229-08 TCGA-BB-7870-10A-01D-2229-08 g.chr2:139308504G>A c.232G>A c.(232-234)Gat>Aat p.D78N HNSC 2 139316621 139316621 + Silent SNP A A C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 g.chr2:139316621A>C c.510A>C c.(508-510)atA>atC p.I170I HNSC 2 139316665 139316665 + Missense_Mutation SNP G G T TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 g.chr2:139316665G>T c.554G>T c.(553-555)cGt>cTt p.R185L HNSC 2 139316682 139316682 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 g.chr2:139316682G>T c.571G>T c.(571-573)Ggt>Tgt p.G191C HNSC 2 139316683 139316683 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 g.chr2:139316683G>T c.572G>T c.(571-573)gGt>gTt p.G191V HNSC 2 139316854 139316854 + Missense_Mutation SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 g.chr2:139316854C>G c.661C>G c.(661-663)Cga>Gga p.R221G HNSC 2 139316872 139316872 + Missense_Mutation SNP G G T TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 g.chr2:139316872G>T c.679G>T c.(679-681)Gcc>Tcc p.A227S HNSC 2 139326635 139326635 + Silent SNP G G A TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 g.chr2:139326635G>A c.1164G>A c.(1162-1164)cgG>cgA p.R388R KIPAN 2 139308572 139308572 + Silent SNP A A G TCGA-A4-7286-01A-11D-2136-08 TCGA-A4-7286-10A-01D-2136-08 g.chr2:139308572A>G c.300A>G c.(298-300)gcA>gcG p.A100A KIPAN 2 139318408 139318408 + Missense_Mutation SNP G G A TCGA-B9-5155-01A-01D-1589-08 TCGA-B9-5155-10A-01D-1589-08 g.chr2:139318408G>A c.748G>A c.(748-750)Gtt>Att p.V250I KIPAN 2 139322375 139322375 + Missense_Mutation SNP A A G TCGA-Q2-A5QZ-01A-11D-A28G-10 TCGA-Q2-A5QZ-10A-01D-A28G-10 g.chr2:139322375A>G c.935A>G c.(934-936)cAc>cGc p.H312R KIRP 2 139308572 139308572 + Silent SNP A A G TCGA-A4-7286-01A-11D-2136-08 TCGA-A4-7286-10A-01D-2136-08 g.chr2:139308572A>G c.300A>G c.(298-300)gcA>gcG p.A100A KIRP 2 139318408 139318408 + Missense_Mutation SNP G G A TCGA-B9-5155-01A-01D-1589-08 TCGA-B9-5155-10A-01D-1589-08 g.chr2:139318408G>A c.748G>A c.(748-750)Gtt>Att p.V250I KIRP 2 139322375 139322375 + Missense_Mutation SNP A A G TCGA-Q2-A5QZ-01A-11D-A28G-10 TCGA-Q2-A5QZ-10A-01D-A28G-10 g.chr2:139322375A>G c.935A>G c.(934-936)cAc>cGc p.H312R LGG 2 139308482 139308482 + Silent SNP G G A TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 g.chr2:139308482G>A c.210G>A c.(208-210)agG>agA p.R70R LUAD 2 139308546 139308546 + Missense_Mutation SNP A A C TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 g.chr2:139308546A>C c.274A>C c.(274-276)Agc>Cgc p.S92R LUAD 2 139316626 139316626 + Missense_Mutation SNP G G C TCGA-73-4668-01A-01D-1265-08 TCGA-73-4668-11A-01D-1265-08 g.chr2:139316626G>C c.515G>C c.(514-516)gGa>gCa p.G172A LUAD 2 139316703 139316703 + Nonsense_Mutation SNP A A T TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr2:139316703A>T c.592A>T c.(592-594)Aga>Tga p.R198* LUAD 2 139316728 139316728 + Missense_Mutation SNP T T C TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr2:139316728T>C c.617T>C c.(616-618)gTg>gCg p.V206A LUAD 2 139316870 139316870 + Missense_Mutation SNP A A G TCGA-86-8279-01A-11D-2284-08 TCGA-86-8279-10A-01D-2284-08 g.chr2:139316870A>G c.677A>G c.(676-678)aAc>aGc p.N226S LUAD 2 139316875 139316875 + Missense_Mutation SNP A A G TCGA-86-8279-01A-11D-2284-08 TCGA-86-8279-10A-01D-2284-08 g.chr2:139316875A>G c.682A>G c.(682-684)Atg>Gtg p.M228V LUAD 2 139318416 139318416 + Silent SNP A A G TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 g.chr2:139318416A>G c.756A>G c.(754-756)aaA>aaG p.K252K LUAD 2 139322350 139322350 + Missense_Mutation SNP G G A TCGA-35-4122-01A-01D-1105-08 TCGA-35-4122-10A-01D-1105-08 g.chr2:139322350G>A c.910G>A c.(910-912)Gat>Aat p.D304N LUAD 2 139322383 139322383 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr2:139322383G>A c.943G>A c.(943-945)Gaa>Aaa p.E315K LUAD 2 139322544 139322544 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 g.chr2:139322544G>T c.1015G>T c.(1015-1017)Ggg>Tgg p.G339W LUAD 2 139322555 139322555 + Missense_Mutation SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 g.chr2:139322555G>T c.1026G>T c.(1024-1026)tgG>tgT p.W342C LUAD 2 139326574 139326574 + Missense_Mutation SNP C C A TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr2:139326574C>A c.1103C>A c.(1102-1104)gCa>gAa p.A368E LUSC 2 139308568 139308568 + Missense_Mutation SNP G G C TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 g.chr2:139308568G>C c.296G>C c.(295-297)cGa>cCa p.R99P LUSC 2 139310159 139310159 + Missense_Mutation SNP G G T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 g.chr2:139310159G>T c.388G>T c.(388-390)Gac>Tac p.D130Y LUSC 2 139310249 139310249 + Nonsense_Mutation SNP G G T TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr2:139310249G>T c.478G>T c.(478-480)Gag>Tag p.E160* LUSC 2 139316613 139316613 + Missense_Mutation SNP G G A TCGA-66-2793-01A-01D-1267-08 TCGA-66-2793-11A-01D-1267-08 g.chr2:139316613G>A c.502G>A c.(502-504)Gta>Ata p.V168I LUSC 2 139316664 139316664 + Missense_Mutation SNP C C G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 g.chr2:139316664C>G c.553C>G c.(553-555)Cgt>Ggt p.R185G LUSC 2 139316676 139316676 + Missense_Mutation SNP G G A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr2:139316676G>A c.565G>A c.(565-567)Gat>Aat p.D189N LUSC 2 139326626 139326626 + Silent SNP A A T TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 g.chr2:139326626A>T c.1155A>T c.(1153-1155)ccA>ccT p.P385P OV 2 139322292 139322300 + In_Frame_Del DEL GCTGAAGGT GCTGAAGGT - TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 g.chr2:139322292_139322300delGCTGAAGGT c.852_860delGCTGAAGGT c.(850-861)cggctgaaggtc>cgc p.LKV285del PAAD 2 139318378 139318378 + Nonsense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:139318378C>T c.718C>T c.(718-720)Cga>Tga p.R240* PAAD 2 139326586 139326586 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 g.chr2:139326586G>T c.1115G>T c.(1114-1116)cGa>cTa p.R372L PRAD 2 139318404 139318404 + Silent SNP T T C TCGA-G9-6339-01A-12D-A30X-08 TCGA-G9-6339-10A-01D-A30X-08 g.chr2:139318404T>C c.744T>C c.(742-744)ccT>ccC p.P248P SKCM 2 139307791 139307791 + Missense_Mutation SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr2:139307791C>T c.5C>T c.(4-6)tCt>tTt p.S2F SKCM 2 139308107 139308107 + Nonsense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr2:139308107C>T c.133C>T c.(133-135)Cga>Tga p.R45* SKCM 2 139308526 139308526 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr2:139308526C>T c.254C>T c.(253-255)tCc>tTc p.S85F SKCM 2 139308617 139308617 + Missense_Mutation SNP A A T TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr2:139308617A>T c.345A>T c.(343-345)aaA>aaT p.K115N SKCM 2 139316692 139316692 + Missense_Mutation SNP G G T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr2:139316692G>T c.581G>T c.(580-582)tGg>tTg p.W194L SKCM 2 139326544 139326544 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:139326544C>T c.1073C>T c.(1072-1074)tCc>tTc p.S358F SKCM 2 139326593 139326593 + Silent SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr2:139326593A>T c.1122A>T c.(1120-1122)ctA>ctT p.L374L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 2 139308578 139308578 single base substitution C T 3_prime_UTR_variant BLCA-US 2 139308578 139308578 single base substitution C T exon_variant BLCA-US 2 139308578 139308578 single base substitution C T synonymous_variant F102F 306C>T BOCA-FR 2 139329973 139329973 single base substitution T A 3_prime_UTR_variant BOCA-FR 2 139329973 139329973 single base substitution T A downstream_gene_variant BRCA-EU 2 139254753 139254753 single base substitution G T upstream_gene_variant BRCA-EU 2 139256444 139256444 single base substitution T C upstream_gene_variant BRCA-EU 2 139257229 139257229 single base substitution G T upstream_gene_variant BRCA-EU 2 139257811 139257811 single base substitution T G upstream_gene_variant BRCA-EU 2 139257860 139257860 single base substitution T A upstream_gene_variant BRCA-EU 2 139258104 139258104 single base substitution C T upstream_gene_variant BRCA-EU 2 139259162 139259162 single base substitution G A upstream_gene_variant BRCA-EU 2 139259987 139259987 single base substitution C A intron_variant BRCA-EU 2 139260511 139260511 single base substitution C G intron_variant BRCA-EU 2 139260738 139260738 single base substitution G T intron_variant BRCA-EU 2 139261088 139261088 single base substitution C G intron_variant BRCA-EU 2 139261783 139261783 single base substitution G C intron_variant BRCA-EU 2 139261869 139261869 single base substitution C T intron_variant BRCA-EU 2 139262764 139262765 deletion of <=200bp TT - intron_variant BRCA-EU 2 139263760 139263763 deletion of <=200bp TAAT - intron_variant BRCA-EU 2 139265162 139265162 single base substitution A C intron_variant BRCA-EU 2 139265413 139265413 single base substitution T C intron_variant BRCA-EU 2 139266785 139266785 single base substitution T G intron_variant BRCA-EU 2 139266900 139266900 single base substitution G C intron_variant BRCA-EU 2 139267692 139267692 single base substitution A G intron_variant BRCA-EU 2 139267746 139267746 single base substitution A G intron_variant BRCA-EU 2 139269853 139269853 single base substitution A G intron_variant BRCA-EU 2 139270336 139270336 single base substitution A G intron_variant BRCA-EU 2 139271018 139271018 single base substitution G T intron_variant BRCA-EU 2 139271019 139271019 single base substitution A T intron_variant BRCA-EU 2 139271391 139271391 deletion of <=200bp A - intron_variant BRCA-EU 2 139271851 139271851 single base substitution T C intron_variant BRCA-EU 2 139272999 139272999 single base substitution C T intron_variant BRCA-EU 2 139273192 139273192 single base substitution C T intron_variant BRCA-EU 2 139273236 139273236 single base substitution G C intron_variant BRCA-EU 2 139273994 139273994 single base substitution A G intron_variant BRCA-EU 2 139275211 139275211 single base substitution G A intron_variant BRCA-EU 2 139275814 139275814 single base substitution G C intron_variant BRCA-EU 2 139275821 139275821 single base substitution G A intron_variant BRCA-EU 2 139276060 139276060 single base substitution A G intron_variant BRCA-EU 2 139276105 139276105 single base substitution A T intron_variant BRCA-EU 2 139276355 139276355 single base substitution G A intron_variant BRCA-EU 2 139276486 139276486 single base substitution G A intron_variant BRCA-EU 2 139278838 139278838 single base substitution A G intron_variant BRCA-EU 2 139279818 139279818 single base substitution A G intron_variant BRCA-EU 2 139280111 139280111 single base substitution C G intron_variant BRCA-EU 2 139280203 139280203 single base substitution A T intron_variant BRCA-EU 2 139280204 139280204 single base substitution G C intron_variant BRCA-EU 2 139280293 139280293 single base substitution G C intron_variant BRCA-EU 2 139281710 139281710 single base substitution C A intron_variant BRCA-EU 2 139281935 139281935 single base substitution A C intron_variant BRCA-EU 2 139282812 139282812 single base substitution A T intron_variant BRCA-EU 2 139283018 139283018 single base substitution G A intron_variant BRCA-EU 2 139283023 139283023 single base substitution C T intron_variant BRCA-EU 2 139283300 139283300 single base substitution C G intron_variant BRCA-EU 2 139285219 139285219 single base substitution A C intron_variant BRCA-EU 2 139286597 139286597 single base substitution T A intron_variant BRCA-EU 2 139287652 139287652 single base substitution C T intron_variant BRCA-EU 2 139289144 139289144 single base substitution C T intron_variant BRCA-EU 2 139289307 139289307 single base substitution C A intron_variant BRCA-EU 2 139291574 139291574 deletion of <=200bp T - intron_variant BRCA-EU 2 139291849 139291849 deletion of <=200bp A - intron_variant BRCA-EU 2 139291969 139291969 single base substitution C G intron_variant BRCA-EU 2 139292158 139292158 deletion of <=200bp T - intron_variant BRCA-EU 2 139292170 139292170 single base substitution G T intron_variant BRCA-EU 2 139292230 139292230 single base substitution G C intron_variant BRCA-EU 2 139292337 139292337 deletion of <=200bp C - intron_variant BRCA-EU 2 139292686 139292686 single base substitution G A intron_variant BRCA-EU 2 139292799 139292799 single base substitution G C intron_variant BRCA-EU 2 139293547 139293547 single base substitution A T intron_variant BRCA-EU 2 139293912 139293912 single base substitution C A intron_variant BRCA-EU 2 139294345 139294345 single base substitution G T intron_variant BRCA-EU 2 139294684 139294684 single base substitution C G intron_variant BRCA-EU 2 139295490 139295490 deletion of <=200bp T - intron_variant BRCA-EU 2 139295663 139295663 single base substitution A C intron_variant BRCA-EU 2 139295858 139295858 single base substitution G T intron_variant BRCA-EU 2 139296364 139296364 single base substitution A T intron_variant BRCA-EU 2 139297953 139297953 single base substitution G C intron_variant BRCA-EU 2 139298883 139298883 single base substitution G T intron_variant BRCA-EU 2 139299221 139299221 single base substitution G T intron_variant BRCA-EU 2 139300253 139300253 single base substitution T A intron_variant BRCA-EU 2 139301391 139301391 single base substitution G C intron_variant BRCA-EU 2 139301561 139301561 single base substitution A T intron_variant BRCA-EU 2 139302198 139302198 single base substitution C G intron_variant BRCA-EU 2 139303649 139303649 single base substitution G C intron_variant BRCA-EU 2 139303649 139303649 single base substitution G C upstream_gene_variant BRCA-EU 2 139303882 139303882 single base substitution A G intron_variant BRCA-EU 2 139303882 139303882 single base substitution A G upstream_gene_variant BRCA-EU 2 139303976 139303976 single base substitution G A intron_variant BRCA-EU 2 139303976 139303976 single base substitution G A upstream_gene_variant BRCA-EU 2 139306045 139306045 single base substitution T G intron_variant BRCA-EU 2 139306045 139306045 single base substitution T G upstream_gene_variant BRCA-EU 2 139306550 139306550 single base substitution G A intron_variant BRCA-EU 2 139306550 139306550 single base substitution G A upstream_gene_variant BRCA-EU 2 139307140 139307140 single base substitution G T intron_variant BRCA-EU 2 139307140 139307140 single base substitution G T upstream_gene_variant BRCA-EU 2 139309050 139309050 single base substitution G A intron_variant BRCA-EU 2 139310247 139310247 single base substitution G T downstream_gene_variant BRCA-EU 2 139310247 139310247 single base substitution G T exon_variant BRCA-EU 2 139310247 139310247 single base substitution G T missense_variant C159F 476G>T BRCA-EU 2 139310564 139310564 single base substitution G A downstream_gene_variant BRCA-EU 2 139310564 139310564 single base substitution G A intron_variant BRCA-EU 2 139310682 139310682 insertion of <=200bp - T downstream_gene_variant BRCA-EU 2 139310682 139310682 insertion of <=200bp - T intron_variant BRCA-EU 2 139313144 139313144 single base substitution G A downstream_gene_variant BRCA-EU 2 139313144 139313144 single base substitution G A intron_variant BRCA-EU 2 139314033 139314033 single base substitution A C downstream_gene_variant BRCA-EU 2 139314033 139314033 single base substitution A C intron_variant BRCA-EU 2 139316237 139316237 deletion of <=200bp A - intron_variant BRCA-EU 2 139317477 139317477 single base substitution T G intron_variant BRCA-EU 2 139317477 139317477 single base substitution T G upstream_gene_variant BRCA-EU 2 139318662 139318662 single base substitution A T intron_variant BRCA-EU 2 139318662 139318662 single base substitution A T upstream_gene_variant BRCA-EU 2 139318769 139318769 single base substitution A G intron_variant BRCA-EU 2 139318769 139318769 single base substitution A G upstream_gene_variant BRCA-EU 2 139320885 139320886 deletion of <=200bp AA - intron_variant BRCA-EU 2 139320885 139320886 deletion of <=200bp AA - upstream_gene_variant BRCA-EU 2 139321049 139321065 deletion of <=200bp CTCAAAAATGAAAGATA - intron_variant BRCA-EU 2 139321049 139321065 deletion of <=200bp CTCAAAAATGAAAGATA - upstream_gene_variant BRCA-EU 2 139321334 139321334 single base substitution T A intron_variant BRCA-EU 2 139321334 139321334 single base substitution T A upstream_gene_variant BRCA-EU 2 139321571 139321571 deletion of <=200bp A - intron_variant BRCA-EU 2 139321571 139321571 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 139321851 139321851 insertion of <=200bp - A intron_variant BRCA-EU 2 139321851 139321851 insertion of <=200bp - A upstream_gene_variant BRCA-EU 2 139322653 139322653 single base substitution G A downstream_gene_variant BRCA-EU 2 139322653 139322653 single base substitution G A intron_variant BRCA-EU 2 139323318 139323318 single base substitution T G downstream_gene_variant BRCA-EU 2 139323318 139323318 single base substitution T G intron_variant BRCA-EU 2 139323965 139323965 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 139323965 139323965 deletion of <=200bp A - intron_variant BRCA-EU 2 139324267 139324267 single base substitution G A downstream_gene_variant BRCA-EU 2 139324267 139324267 single base substitution G A intron_variant BRCA-EU 2 139327369 139327369 deletion of <=200bp G - 3_prime_UTR_variant BRCA-EU 2 139327369 139327369 deletion of <=200bp G - downstream_gene_variant BRCA-EU 2 139327377 139327377 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 2 139327377 139327377 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 139327792 139327792 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 139327792 139327792 single base substitution G C downstream_gene_variant BRCA-EU 2 139327809 139327809 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 139327809 139327809 single base substitution G C downstream_gene_variant BRCA-EU 2 139328559 139328559 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 139328559 139328559 single base substitution G A downstream_gene_variant BRCA-EU 2 139328656 139328656 single base substitution T C 3_prime_UTR_variant BRCA-EU 2 139328656 139328656 single base substitution T C downstream_gene_variant BRCA-EU 2 139329764 139329764 single base substitution A C 3_prime_UTR_variant BRCA-EU 2 139329764 139329764 single base substitution A C downstream_gene_variant BRCA-EU 2 139331846 139331846 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 139332056 139332056 single base substitution A G downstream_gene_variant BRCA-EU 2 139332125 139332125 single base substitution A G downstream_gene_variant BRCA-EU 2 139334892 139334892 single base substitution A G downstream_gene_variant BRCA-EU 2 139335449 139335449 single base substitution C T downstream_gene_variant BRCA-FR 2 139257811 139257811 single base substitution T G upstream_gene_variant BRCA-FR 2 139258104 139258104 single base substitution C T upstream_gene_variant BRCA-FR 2 139259987 139259987 single base substitution C A intron_variant BRCA-FR 2 139267901 139267901 single base substitution G A intron_variant BRCA-FR 2 139272283 139272283 single base substitution G A intron_variant BRCA-FR 2 139281320 139281320 single base substitution C A intron_variant BRCA-FR 2 139283300 139283300 single base substitution C G intron_variant BRCA-FR 2 139283892 139283892 single base substitution T A intron_variant BRCA-FR 2 139285219 139285219 single base substitution A C intron_variant BRCA-FR 2 139291969 139291969 single base substitution C G intron_variant BRCA-FR 2 139295078 139295078 single base substitution C T intron_variant BRCA-FR 2 139295858 139295858 single base substitution G T intron_variant BRCA-FR 2 139299221 139299221 single base substitution G A intron_variant BRCA-FR 2 139301561 139301561 single base substitution A T intron_variant BRCA-FR 2 139303882 139303882 single base substitution A G intron_variant BRCA-FR 2 139303882 139303882 single base substitution A G upstream_gene_variant BRCA-FR 2 139309050 139309050 single base substitution G A intron_variant BRCA-FR 2 139314033 139314033 single base substitution A C downstream_gene_variant BRCA-FR 2 139314033 139314033 single base substitution A C intron_variant BRCA-FR 2 139318769 139318769 single base substitution A G intron_variant BRCA-FR 2 139318769 139318769 single base substitution A G upstream_gene_variant BRCA-FR 2 139322653 139322653 single base substitution G A downstream_gene_variant BRCA-FR 2 139322653 139322653 single base substitution G A intron_variant BRCA-FR 2 139328559 139328559 single base substitution G A 3_prime_UTR_variant BRCA-FR 2 139328559 139328559 single base substitution G A downstream_gene_variant BRCA-UK 2 139286597 139286597 single base substitution T A intron_variant BRCA-UK 2 139292799 139292799 single base substitution G C intron_variant BRCA-UK 2 139307140 139307140 single base substitution G T intron_variant BRCA-UK 2 139307140 139307140 single base substitution G T upstream_gene_variant BRCA-UK 2 139308567 139308567 single base substitution C T 3_prime_UTR_variant BRCA-UK 2 139308567 139308567 single base substitution C T exon_variant BRCA-UK 2 139308567 139308567 single base substitution C T stop_gained R99* 295C>T BRCA-UK 2 139317477 139317477 single base substitution T G intron_variant BRCA-UK 2 139317477 139317477 single base substitution T G upstream_gene_variant BRCA-UK 2 139321049 139321065 deletion of <=200bp CTCAAAAATGAAAGATA - intron_variant BRCA-UK 2 139321049 139321065 deletion of <=200bp CTCAAAAATGAAAGATA - upstream_gene_variant BRCA-UK 2 139321334 139321334 single base substitution T A intron_variant BRCA-UK 2 139321334 139321334 single base substitution T A upstream_gene_variant BRCA-US 2 139308479 139308479 single base substitution G T exon_variant BRCA-US 2 139308479 139308479 single base substitution G T intron_variant BRCA-US 2 139308479 139308479 single base substitution G T synonymous_variant L69L 207G>T BRCA-US 2 139316712 139316712 single base substitution G T 3_prime_UTR_variant BRCA-US 2 139316712 139316712 single base substitution G T missense_variant D201Y 601G>T BRCA-US 2 139316724 139316724 single base substitution T C 3_prime_UTR_variant BRCA-US 2 139316724 139316724 single base substitution T C missense_variant F205L 613T>C BRCA-US 2 139326537 139326537 single base substitution T G 3_prime_UTR_variant BRCA-US 2 139326537 139326537 single base substitution T G downstream_gene_variant BRCA-US 2 139326537 139326537 single base substitution T G missense_variant W356G 1066T>G BTCA-JP 2 139307758 139307758 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 2 139308122 139308122 single base substitution G A exon_variant BTCA-JP 2 139308122 139308122 single base substitution G A missense_variant E50K 148G>A BTCA-JP 2 139308391 139308391 single base substitution C T intron_variant BTCA-JP 2 139312093 139312093 single base substitution G C downstream_gene_variant BTCA-JP 2 139312093 139312093 single base substitution G C exon_variant BTCA-JP 2 139312093 139312093 single base substitution G C intron_variant BTCA-JP 2 139322428 139322428 single base substitution A G intron_variant BTCA-JP 2 139322428 139322428 single base substitution A G splice_region_variant CESC-US 2 139308479 139308479 single base substitution G A exon_variant CESC-US 2 139308479 139308479 single base substitution G A intron_variant CESC-US 2 139308479 139308479 single base substitution G A synonymous_variant L69L 207G>A CESC-US 2 139326556 139326556 single base substitution C G 3_prime_UTR_variant CESC-US 2 139326556 139326556 single base substitution C G downstream_gene_variant CESC-US 2 139326556 139326556 single base substitution C G missense_variant S362C 1085C>G CESC-US 2 139326585 139326585 single base substitution C T 3_prime_UTR_variant CESC-US 2 139326585 139326585 single base substitution C T downstream_gene_variant CESC-US 2 139326585 139326585 single base substitution C T stop_gained R372* 1114C>T CLLE-ES 2 139260555 139260555 single base substitution A G intron_variant CLLE-ES 2 139300090 139300090 single base substitution G C intron_variant COAD-US 2 139308136 139308136 single base substitution T G exon_variant COAD-US 2 139308136 139308136 single base substitution T G missense_variant S54R 162T>G COAD-US 2 139310141 139310141 single base substitution C T 3_prime_UTR_variant COAD-US 2 139310141 139310141 single base substitution C T exon_variant COAD-US 2 139310141 139310141 single base substitution C T stop_gained R124* 370C>T COAD-US 2 139316751 139316751 single base substitution C G 3_prime_UTR_variant COAD-US 2 139316751 139316751 single base substitution C G missense_variant H214D 640C>G COAD-US 2 139318395 139318395 single base substitution T G 3_prime_UTR_variant COAD-US 2 139318395 139318395 single base substitution T G missense_variant D245E 735T>G COAD-US 2 139318395 139318395 single base substitution T G upstream_gene_variant COAD-US 2 139318487 139318487 single base substitution C T 3_prime_UTR_variant COAD-US 2 139318487 139318487 single base substitution C T missense_variant A276V 827C>T COAD-US 2 139318487 139318487 single base substitution C T upstream_gene_variant COCA-CN 2 139308627 139308627 single base substitution A G splice_region_variant COCA-CN 2 139316631 139316631 single base substitution A G 3_prime_UTR_variant COCA-CN 2 139316631 139316631 single base substitution A G missense_variant T174A 520A>G COCA-CN 2 139326518 139326518 single base substitution C A 3_prime_UTR_variant COCA-CN 2 139326518 139326518 single base substitution C A downstream_gene_variant COCA-CN 2 139326518 139326518 single base substitution C A missense_variant D349E 1047C>A COCA-CN 2 139326634 139326634 single base substitution G A 3_prime_UTR_variant COCA-CN 2 139326634 139326634 single base substitution G A downstream_gene_variant COCA-CN 2 139326634 139326634 single base substitution G A missense_variant R388Q 1163G>A ESAD-UK 2 139256168 139256168 single base substitution G T upstream_gene_variant ESAD-UK 2 139258673 139258673 single base substitution G T upstream_gene_variant ESAD-UK 2 139262109 139262109 single base substitution C G intron_variant ESAD-UK 2 139263512 139263512 single base substitution C A intron_variant ESAD-UK 2 139265025 139265025 single base substitution G C intron_variant ESAD-UK 2 139265380 139265380 single base substitution A G intron_variant ESAD-UK 2 139273625 139273625 insertion of <=200bp - A intron_variant ESAD-UK 2 139274402 139274402 single base substitution G T intron_variant ESAD-UK 2 139276152 139276152 single base substitution G C intron_variant ESAD-UK 2 139276258 139276258 single base substitution C G intron_variant ESAD-UK 2 139279079 139279079 single base substitution C T intron_variant ESAD-UK 2 139281611 139281611 single base substitution C G intron_variant ESAD-UK 2 139282870 139282870 single base substitution C T intron_variant ESAD-UK 2 139283508 139283508 single base substitution G A intron_variant ESAD-UK 2 139283739 139283739 single base substitution A G intron_variant ESAD-UK 2 139283905 139283905 single base substitution T C intron_variant ESAD-UK 2 139285173 139285173 single base substitution T C intron_variant ESAD-UK 2 139287803 139287803 single base substitution G A intron_variant ESAD-UK 2 139288650 139288650 single base substitution A C intron_variant ESAD-UK 2 139291450 139291450 single base substitution G A intron_variant ESAD-UK 2 139291574 139291574 deletion of <=200bp T - intron_variant ESAD-UK 2 139291646 139291646 single base substitution G T intron_variant ESAD-UK 2 139292305 139292305 single base substitution G A intron_variant ESAD-UK 2 139293759 139293783 deletion of <=200bp TTTTTTCATGCCTCGTAATTTTCTA - intron_variant ESAD-UK 2 139295510 139295510 single base substitution G T intron_variant ESAD-UK 2 139295634 139295634 single base substitution C T intron_variant ESAD-UK 2 139295877 139295877 single base substitution C T intron_variant ESAD-UK 2 139296144 139296144 single base substitution G A intron_variant ESAD-UK 2 139301364 139301366 deletion of <=200bp GGA - intron_variant ESAD-UK 2 139305025 139305025 single base substitution G T intron_variant ESAD-UK 2 139305025 139305025 single base substitution G T upstream_gene_variant ESAD-UK 2 139305182 139305182 single base substitution C A intron_variant ESAD-UK 2 139305182 139305182 single base substitution C A upstream_gene_variant ESAD-UK 2 139305226 139305226 single base substitution A G intron_variant ESAD-UK 2 139305226 139305226 single base substitution A G upstream_gene_variant ESAD-UK 2 139306482 139306482 single base substitution T C intron_variant ESAD-UK 2 139306482 139306482 single base substitution T C upstream_gene_variant ESAD-UK 2 139307298 139307298 single base substitution G T intron_variant ESAD-UK 2 139307298 139307298 single base substitution G T upstream_gene_variant ESAD-UK 2 139307746 139307746 single base substitution G A 5_prime_UTR_variant ESAD-UK 2 139308216 139308216 single base substitution G A intron_variant ESAD-UK 2 139308275 139308275 single base substitution A T intron_variant ESAD-UK 2 139309992 139309992 single base substitution C G intron_variant ESAD-UK 2 139312363 139312363 insertion of <=200bp - A downstream_gene_variant ESAD-UK 2 139312363 139312363 insertion of <=200bp - A intron_variant ESAD-UK 2 139312510 139312510 single base substitution A G downstream_gene_variant ESAD-UK 2 139312510 139312510 single base substitution A G intron_variant ESAD-UK 2 139315274 139315274 single base substitution G A intron_variant ESAD-UK 2 139315313 139315313 deletion of <=200bp A - intron_variant ESAD-UK 2 139320514 139320514 single base substitution G C intron_variant ESAD-UK 2 139320514 139320514 single base substitution G C upstream_gene_variant ESAD-UK 2 139320874 139320874 single base substitution C G intron_variant ESAD-UK 2 139320874 139320874 single base substitution C G upstream_gene_variant ESAD-UK 2 139320893 139320893 single base substitution A T intron_variant ESAD-UK 2 139320893 139320893 single base substitution A T upstream_gene_variant ESAD-UK 2 139321217 139321217 single base substitution T A intron_variant ESAD-UK 2 139321217 139321217 single base substitution T A upstream_gene_variant ESAD-UK 2 139322569 139322569 single base substitution A G exon_variant ESAD-UK 2 139322569 139322569 single base substitution A G splice_region_variant ESAD-UK 2 139322570 139322570 single base substitution T A exon_variant ESAD-UK 2 139322570 139322570 single base substitution T A splice_region_variant ESAD-UK 2 139324882 139324882 single base substitution G C downstream_gene_variant ESAD-UK 2 139324882 139324882 single base substitution G C intron_variant ESAD-UK 2 139330109 139330109 single base substitution A G 3_prime_UTR_variant ESAD-UK 2 139330109 139330109 single base substitution A G downstream_gene_variant ESAD-UK 2 139330229 139330229 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 139330229 139330229 single base substitution G A downstream_gene_variant ESAD-UK 2 139330240 139330240 single base substitution A G 3_prime_UTR_variant ESAD-UK 2 139330240 139330240 single base substitution A G downstream_gene_variant ESAD-UK 2 139330500 139330500 single base substitution G T 3_prime_UTR_variant ESAD-UK 2 139330500 139330500 single base substitution G T downstream_gene_variant ESAD-UK 2 139331846 139331846 deletion of <=200bp A - downstream_gene_variant ESAD-UK 2 139332401 139332401 single base substitution G A downstream_gene_variant ESAD-UK 2 139334829 139334829 single base substitution G A downstream_gene_variant ESCA-CN 2 139318333 139318333 deletion of <=200bp T - intron_variant ESCA-CN 2 139318333 139318333 deletion of <=200bp T - upstream_gene_variant ESCA-CN 2 139322338 139322338 single base substitution G C 3_prime_UTR_variant ESCA-CN 2 139322338 139322338 single base substitution G C exon_variant ESCA-CN 2 139322338 139322338 single base substitution G C missense_variant E300Q 898G>C KIRP-US 2 139308572 139308572 single base substitution A G 3_prime_UTR_variant KIRP-US 2 139308572 139308572 single base substitution A G exon_variant KIRP-US 2 139308572 139308572 single base substitution A G synonymous_variant A100A 300A>G KIRP-US 2 139318408 139318408 single base substitution G A 3_prime_UTR_variant KIRP-US 2 139318408 139318408 single base substitution G A missense_variant V250I 748G>A KIRP-US 2 139318408 139318408 single base substitution G A upstream_gene_variant KIRP-US 2 139322375 139322375 single base substitution A G 3_prime_UTR_variant KIRP-US 2 139322375 139322375 single base substitution A G exon_variant KIRP-US 2 139322375 139322375 single base substitution A G missense_variant H312R 935A>G LAML-KR 2 139293115 139293115 single base substitution A T intron_variant LAML-KR 2 139296821 139296821 single base substitution T A intron_variant LICA-FR 2 139256539 139256539 single base substitution A G upstream_gene_variant LICA-FR 2 139272282 139272282 single base substitution G T intron_variant LICA-FR 2 139301197 139301197 single base substitution G T intron_variant LICA-FR 2 139301266 139301266 single base substitution T C intron_variant LICA-FR 2 139301303 139301303 single base substitution C T intron_variant LICA-FR 2 139305810 139305810 deletion of <=200bp T - intron_variant LICA-FR 2 139305810 139305810 deletion of <=200bp T - upstream_gene_variant LICA-FR 2 139316738 139316738 single base substitution A C 3_prime_UTR_variant LICA-FR 2 139316738 139316738 single base substitution A C missense_variant Q209H 627A>C LICA-FR 2 139316881 139316881 single base substitution G A 3_prime_UTR_variant LICA-FR 2 139316881 139316881 single base substitution G A missense_variant E230K 688G>A LINC-JP 2 139263084 139263084 single base substitution T G intron_variant LINC-JP 2 139285063 139285063 single base substitution C T intron_variant LINC-JP 2 139287939 139287939 single base substitution A G intron_variant LINC-JP 2 139310746 139310746 single base substitution T G downstream_gene_variant LINC-JP 2 139310746 139310746 single base substitution T G intron_variant LINC-JP 2 139312092 139312092 single base substitution G C downstream_gene_variant LINC-JP 2 139312092 139312092 single base substitution G C exon_variant LINC-JP 2 139312092 139312092 single base substitution G C intron_variant LINC-JP 2 139319291 139319291 single base substitution A G intron_variant LINC-JP 2 139319291 139319291 single base substitution A G upstream_gene_variant LINC-JP 2 139322519 139322519 single base substitution A G 3_prime_UTR_variant LINC-JP 2 139322519 139322519 single base substitution A G exon_variant LINC-JP 2 139322519 139322519 single base substitution A G synonymous_variant V330V 990A>G LINC-JP 2 139322536 139322536 single base substitution G T 3_prime_UTR_variant LINC-JP 2 139322536 139322536 single base substitution G T exon_variant LINC-JP 2 139322536 139322536 single base substitution G T missense_variant C336F 1007G>T LINC-JP 2 139323627 139323634 deletion of <=200bp AATTAGTT - downstream_gene_variant LINC-JP 2 139323627 139323634 deletion of <=200bp AATTAGTT - intron_variant LINC-JP 2 139329381 139329381 single base substitution T C 3_prime_UTR_variant LINC-JP 2 139329381 139329381 single base substitution T C downstream_gene_variant LIRI-JP 2 139257262 139257262 single base substitution G C upstream_gene_variant LIRI-JP 2 139258927 139258927 single base substitution G A upstream_gene_variant LIRI-JP 2 139260396 139260396 single base substitution A C intron_variant LIRI-JP 2 139266709 139266709 single base substitution A G intron_variant LIRI-JP 2 139267623 139267623 single base substitution T C intron_variant LIRI-JP 2 139273532 139273532 single base substitution T C intron_variant LIRI-JP 2 139273785 139273785 single base substitution G A intron_variant LIRI-JP 2 139274115 139274115 single base substitution A G intron_variant LIRI-JP 2 139274121 139274121 single base substitution A G intron_variant LIRI-JP 2 139276063 139276063 single base substitution A G intron_variant LIRI-JP 2 139276560 139276560 single base substitution C A intron_variant LIRI-JP 2 139276897 139276897 single base substitution A G intron_variant LIRI-JP 2 139278757 139278757 single base substitution A G intron_variant LIRI-JP 2 139282632 139282632 single base substitution C T intron_variant LIRI-JP 2 139284764 139284764 single base substitution A G intron_variant LIRI-JP 2 139285676 139285676 single base substitution T G intron_variant LIRI-JP 2 139286096 139286096 single base substitution A G intron_variant LIRI-JP 2 139286503 139286503 single base substitution A G intron_variant LIRI-JP 2 139287824 139287824 single base substitution A G intron_variant LIRI-JP 2 139287826 139287826 single base substitution A G intron_variant LIRI-JP 2 139287838 139287838 single base substitution A C intron_variant LIRI-JP 2 139289294 139289294 single base substitution A T intron_variant LIRI-JP 2 139290307 139290307 single base substitution G A intron_variant LIRI-JP 2 139290709 139290709 single base substitution A G intron_variant LIRI-JP 2 139293362 139293362 single base substitution T C intron_variant LIRI-JP 2 139293922 139293922 single base substitution A G intron_variant LIRI-JP 2 139294781 139294781 single base substitution T G intron_variant LIRI-JP 2 139298971 139298971 single base substitution A G intron_variant LIRI-JP 2 139302485 139302485 single base substitution C T intron_variant LIRI-JP 2 139303701 139303701 single base substitution A G intron_variant LIRI-JP 2 139303701 139303701 single base substitution A G upstream_gene_variant LIRI-JP 2 139303856 139303856 single base substitution A T intron_variant LIRI-JP 2 139303856 139303856 single base substitution A T upstream_gene_variant LIRI-JP 2 139306810 139306810 single base substitution G A intron_variant LIRI-JP 2 139306810 139306810 single base substitution G A upstream_gene_variant LIRI-JP 2 139308847 139308847 single base substitution C A intron_variant LIRI-JP 2 139309225 139309225 single base substitution C T intron_variant LIRI-JP 2 139309910 139309910 single base substitution G A intron_variant LIRI-JP 2 139312034 139312034 single base substitution G A downstream_gene_variant LIRI-JP 2 139312034 139312034 single base substitution G A exon_variant LIRI-JP 2 139312034 139312034 single base substitution G A intron_variant LIRI-JP 2 139313391 139313391 single base substitution G T downstream_gene_variant LIRI-JP 2 139313391 139313391 single base substitution G T intron_variant LIRI-JP 2 139313512 139313512 single base substitution C A downstream_gene_variant LIRI-JP 2 139313512 139313512 single base substitution C A intron_variant LIRI-JP 2 139315321 139315321 single base substitution C T intron_variant LIRI-JP 2 139315883 139315883 insertion of <=200bp - T intron_variant LIRI-JP 2 139316648 139316648 single base substitution G A 3_prime_UTR_variant LIRI-JP 2 139316648 139316648 single base substitution G A synonymous_variant L179L 537G>A LIRI-JP 2 139317299 139317299 single base substitution C A intron_variant LIRI-JP 2 139317299 139317299 single base substitution C A upstream_gene_variant LIRI-JP 2 139317425 139317425 single base substitution A G intron_variant LIRI-JP 2 139317425 139317425 single base substitution A G upstream_gene_variant LIRI-JP 2 139319753 139319753 single base substitution A G intron_variant LIRI-JP 2 139319753 139319753 single base substitution A G upstream_gene_variant LIRI-JP 2 139319902 139319902 single base substitution G A intron_variant LIRI-JP 2 139319902 139319902 single base substitution G A upstream_gene_variant LIRI-JP 2 139321133 139321133 single base substitution A G intron_variant LIRI-JP 2 139321133 139321133 single base substitution A G upstream_gene_variant LIRI-JP 2 139321296 139321296 single base substitution G A intron_variant LIRI-JP 2 139321296 139321296 single base substitution G A upstream_gene_variant LIRI-JP 2 139322527 139322527 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 139322527 139322527 single base substitution A G exon_variant LIRI-JP 2 139322527 139322527 single base substitution A G missense_variant Q333R 998A>G LIRI-JP 2 139324057 139324057 single base substitution A C downstream_gene_variant LIRI-JP 2 139324057 139324057 single base substitution A C intron_variant LIRI-JP 2 139326601 139326601 single base substitution C T 3_prime_UTR_variant LIRI-JP 2 139326601 139326601 single base substitution C T downstream_gene_variant LIRI-JP 2 139326601 139326601 single base substitution C T missense_variant A377V 1130C>T LIRI-JP 2 139329249 139329249 deletion of <=200bp A - 3_prime_UTR_variant LIRI-JP 2 139329249 139329249 deletion of <=200bp A - downstream_gene_variant LIRI-JP 2 139329558 139329558 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 139329558 139329558 single base substitution A G downstream_gene_variant LIRI-JP 2 139329957 139329957 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 139329957 139329957 single base substitution A G downstream_gene_variant LIRI-JP 2 139330027 139330027 single base substitution G A 3_prime_UTR_variant LIRI-JP 2 139330027 139330027 single base substitution G A downstream_gene_variant LIRI-JP 2 139330082 139330082 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 139330082 139330082 single base substitution T C downstream_gene_variant LIRI-JP 2 139330885 139330885 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 139330885 139330885 single base substitution A G downstream_gene_variant LIRI-JP 2 139331430 139331430 single base substitution C G downstream_gene_variant LIRI-JP 2 139331981 139331981 single base substitution A G downstream_gene_variant LIRI-JP 2 139334969 139334969 single base substitution T C downstream_gene_variant LIRI-JP 2 139335333 139335333 single base substitution A G downstream_gene_variant LUSC-KR 2 139259019 139259019 single base substitution A G upstream_gene_variant LUSC-KR 2 139266644 139266644 single base substitution A G intron_variant LUSC-KR 2 139267535 139267535 single base substitution A G intron_variant LUSC-KR 2 139270522 139270522 single base substitution G A intron_variant LUSC-KR 2 139272058 139272058 single base substitution G T intron_variant LUSC-KR 2 139274624 139274624 single base substitution G A intron_variant LUSC-KR 2 139274985 139274985 single base substitution A G intron_variant LUSC-KR 2 139276502 139276502 single base substitution C G intron_variant LUSC-KR 2 139279808 139279808 single base substitution G T intron_variant LUSC-KR 2 139280604 139280604 single base substitution C G intron_variant LUSC-KR 2 139282610 139282610 single base substitution G T intron_variant LUSC-KR 2 139284315 139284315 single base substitution G T intron_variant LUSC-KR 2 139285756 139285756 single base substitution A G intron_variant LUSC-KR 2 139286600 139286600 single base substitution A G intron_variant LUSC-KR 2 139292416 139292416 single base substitution G T intron_variant LUSC-KR 2 139292417 139292417 single base substitution A T intron_variant LUSC-KR 2 139295545 139295545 single base substitution G T intron_variant LUSC-KR 2 139297748 139297748 single base substitution G A intron_variant LUSC-KR 2 139300330 139300330 single base substitution G A intron_variant LUSC-KR 2 139303492 139303492 single base substitution G C intron_variant LUSC-KR 2 139303492 139303492 single base substitution G C upstream_gene_variant LUSC-KR 2 139306864 139306864 single base substitution C G intron_variant LUSC-KR 2 139306864 139306864 single base substitution C G upstream_gene_variant LUSC-KR 2 139315999 139315999 single base substitution C T intron_variant LUSC-KR 2 139320083 139320083 single base substitution G T intron_variant LUSC-KR 2 139320083 139320083 single base substitution G T upstream_gene_variant LUSC-KR 2 139326029 139326029 single base substitution G A downstream_gene_variant LUSC-KR 2 139326029 139326029 single base substitution G A intron_variant LUSC-KR 2 139329948 139329948 single base substitution G C 3_prime_UTR_variant LUSC-KR 2 139329948 139329948 single base substitution G C downstream_gene_variant LUSC-KR 2 139335016 139335016 single base substitution G C downstream_gene_variant LUSC-US 2 139308568 139308568 single base substitution G C 3_prime_UTR_variant LUSC-US 2 139308568 139308568 single base substitution G C exon_variant LUSC-US 2 139308568 139308568 single base substitution G C missense_variant R99P 296G>C LUSC-US 2 139310159 139310159 single base substitution G T downstream_gene_variant LUSC-US 2 139310159 139310159 single base substitution G T exon_variant LUSC-US 2 139310159 139310159 single base substitution G T missense_variant D130Y 388G>T LUSC-US 2 139310249 139310249 single base substitution G T downstream_gene_variant LUSC-US 2 139310249 139310249 single base substitution G T splice_region_variant LUSC-US 2 139310249 139310249 single base substitution G T stop_gained E160* 478G>T LUSC-US 2 139316613 139316613 single base substitution G A 3_prime_UTR_variant LUSC-US 2 139316613 139316613 single base substitution G A missense_variant V168I 502G>A LUSC-US 2 139316664 139316664 single base substitution C G 3_prime_UTR_variant LUSC-US 2 139316664 139316664 single base substitution C G missense_variant R185G 553C>G LUSC-US 2 139316676 139316676 single base substitution G A 3_prime_UTR_variant LUSC-US 2 139316676 139316676 single base substitution G A missense_variant D189N 565G>A LUSC-US 2 139326626 139326626 single base substitution A T 3_prime_UTR_variant LUSC-US 2 139326626 139326626 single base substitution A T downstream_gene_variant LUSC-US 2 139326626 139326626 single base substitution A T synonymous_variant P385P 1155A>T MALY-DE 2 139260359 139260359 single base substitution A G intron_variant MALY-DE 2 139263083 139263083 single base substitution T G intron_variant MALY-DE 2 139266995 139266995 single base substitution A C intron_variant MALY-DE 2 139271016 139271016 single base substitution G T intron_variant MALY-DE 2 139278412 139278413 deletion of <=200bp TG - intron_variant MALY-DE 2 139279079 139279079 single base substitution C T intron_variant MALY-DE 2 139279127 139279127 insertion of <=200bp - T intron_variant MALY-DE 2 139284149 139284149 single base substitution T G intron_variant MALY-DE 2 139284781 139284781 single base substitution A G intron_variant MALY-DE 2 139290382 139290382 single base substitution G A intron_variant MALY-DE 2 139294994 139294994 single base substitution T G intron_variant MALY-DE 2 139304458 139304458 single base substitution C T intron_variant MALY-DE 2 139304458 139304458 single base substitution C T upstream_gene_variant MALY-DE 2 139306057 139306057 single base substitution T C intron_variant MALY-DE 2 139306057 139306057 single base substitution T C upstream_gene_variant MALY-DE 2 139309535 139309535 single base substitution G A intron_variant MALY-DE 2 139316121 139316121 single base substitution C A intron_variant MALY-DE 2 139316245 139316245 single base substitution T A intron_variant MALY-DE 2 139324895 139324895 single base substitution A G downstream_gene_variant MALY-DE 2 139324895 139324895 single base substitution A G intron_variant MALY-DE 2 139324905 139324905 single base substitution A C downstream_gene_variant MALY-DE 2 139324905 139324905 single base substitution A C intron_variant MALY-DE 2 139326361 139326361 single base substitution T A downstream_gene_variant MALY-DE 2 139326361 139326361 single base substitution T A intron_variant MALY-DE 2 139326366 139326366 single base substitution T A downstream_gene_variant MALY-DE 2 139326366 139326366 single base substitution T A intron_variant MALY-DE 2 139329569 139329570 deletion of <=200bp GT - 3_prime_UTR_variant MALY-DE 2 139329569 139329570 deletion of <=200bp GT - downstream_gene_variant MALY-DE 2 139329983 139329983 single base substitution A C 3_prime_UTR_variant MALY-DE 2 139329983 139329983 single base substitution A C downstream_gene_variant MALY-DE 2 139330729 139330729 single base substitution A T 3_prime_UTR_variant MALY-DE 2 139330729 139330729 single base substitution A T downstream_gene_variant MALY-DE 2 139336002 139336002 single base substitution A T downstream_gene_variant MELA-AU 2 139254417 139254417 single base substitution G A upstream_gene_variant MELA-AU 2 139254941 139254942 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 139254995 139254995 single base substitution G A upstream_gene_variant MELA-AU 2 139255024 139255024 single base substitution G A upstream_gene_variant MELA-AU 2 139255035 139255035 single base substitution G A upstream_gene_variant MELA-AU 2 139255047 139255047 single base substitution G C upstream_gene_variant MELA-AU 2 139255068 139255068 single base substitution G A upstream_gene_variant MELA-AU 2 139255069 139255069 single base substitution G A upstream_gene_variant MELA-AU 2 139255095 139255095 single base substitution G A upstream_gene_variant MELA-AU 2 139255196 139255196 single base substitution G A upstream_gene_variant MELA-AU 2 139255430 139255430 single base substitution G A upstream_gene_variant MELA-AU 2 139255717 139255717 single base substitution G A upstream_gene_variant MELA-AU 2 139256129 139256129 single base substitution G A upstream_gene_variant MELA-AU 2 139256205 139256205 single base substitution G A upstream_gene_variant MELA-AU 2 139256250 139256250 single base substitution G A upstream_gene_variant MELA-AU 2 139256322 139256322 single base substitution G A upstream_gene_variant MELA-AU 2 139257021 139257021 single base substitution G A upstream_gene_variant MELA-AU 2 139257953 139257953 single base substitution C T upstream_gene_variant MELA-AU 2 139258567 139258567 single base substitution C T upstream_gene_variant MELA-AU 2 139258735 139258735 single base substitution C T upstream_gene_variant MELA-AU 2 139260002 139260002 single base substitution T C intron_variant MELA-AU 2 139260662 139260662 single base substitution C T intron_variant MELA-AU 2 139262349 139262349 single base substitution T C intron_variant MELA-AU 2 139263109 139263109 single base substitution T G intron_variant MELA-AU 2 139263753 139263753 single base substitution G A intron_variant MELA-AU 2 139264763 139264763 single base substitution C T intron_variant MELA-AU 2 139264839 139264839 single base substitution C T intron_variant MELA-AU 2 139264883 139264883 single base substitution C T intron_variant MELA-AU 2 139265195 139265195 single base substitution T G intron_variant MELA-AU 2 139267245 139267245 single base substitution C T intron_variant MELA-AU 2 139267938 139267938 single base substitution C T intron_variant MELA-AU 2 139268481 139268481 single base substitution C T intron_variant MELA-AU 2 139270064 139270064 single base substitution C T intron_variant MELA-AU 2 139270293 139270293 single base substitution C T intron_variant MELA-AU 2 139270295 139270295 single base substitution T C intron_variant MELA-AU 2 139270673 139270673 single base substitution C T intron_variant MELA-AU 2 139270872 139270872 single base substitution C T intron_variant MELA-AU 2 139270950 139270950 single base substitution C T intron_variant MELA-AU 2 139271006 139271006 single base substitution C T intron_variant MELA-AU 2 139272105 139272105 single base substitution A T intron_variant MELA-AU 2 139273325 139273325 single base substitution C T intron_variant MELA-AU 2 139273403 139273403 single base substitution A T intron_variant MELA-AU 2 139274437 139274437 single base substitution T A intron_variant MELA-AU 2 139274537 139274537 single base substitution C T intron_variant MELA-AU 2 139275004 139275004 single base substitution C T intron_variant MELA-AU 2 139275090 139275090 single base substitution C T intron_variant MELA-AU 2 139275106 139275106 single base substitution C T intron_variant MELA-AU 2 139275629 139275629 single base substitution A G intron_variant MELA-AU 2 139275909 139275909 single base substitution C T intron_variant MELA-AU 2 139276271 139276271 single base substitution C A intron_variant MELA-AU 2 139276815 139276815 single base substitution T C intron_variant MELA-AU 2 139277536 139277536 single base substitution G A intron_variant MELA-AU 2 139277748 139277748 single base substitution C T intron_variant MELA-AU 2 139278221 139278221 single base substitution C T intron_variant MELA-AU 2 139279200 139279200 single base substitution C A intron_variant MELA-AU 2 139279275 139279275 single base substitution G A intron_variant MELA-AU 2 139280183 139280183 single base substitution T G intron_variant MELA-AU 2 139280487 139280487 single base substitution C T intron_variant MELA-AU 2 139280655 139280655 single base substitution C T intron_variant MELA-AU 2 139281044 139281044 single base substitution C T intron_variant MELA-AU 2 139281171 139281171 single base substitution C T intron_variant MELA-AU 2 139281313 139281313 single base substitution C T intron_variant MELA-AU 2 139282431 139282432 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 139282796 139282796 single base substitution G A intron_variant MELA-AU 2 139282797 139282797 single base substitution G A intron_variant MELA-AU 2 139283052 139283052 single base substitution T G intron_variant MELA-AU 2 139284262 139284262 single base substitution C T intron_variant MELA-AU 2 139284827 139284827 single base substitution C T intron_variant MELA-AU 2 139284978 139284978 single base substitution G A intron_variant MELA-AU 2 139285294 139285294 single base substitution A C intron_variant MELA-AU 2 139285753 139285753 single base substitution G A intron_variant MELA-AU 2 139286274 139286274 single base substitution C T intron_variant MELA-AU 2 139287246 139287246 single base substitution C T intron_variant MELA-AU 2 139287472 139287472 deletion of <=200bp T - intron_variant MELA-AU 2 139288108 139288108 single base substitution C T intron_variant MELA-AU 2 139288900 139288900 single base substitution C T intron_variant MELA-AU 2 139289637 139289637 single base substitution C T intron_variant MELA-AU 2 139290104 139290104 single base substitution C T intron_variant MELA-AU 2 139290240 139290240 single base substitution C T intron_variant MELA-AU 2 139290319 139290319 single base substitution C T intron_variant MELA-AU 2 139290876 139290876 single base substitution C T intron_variant MELA-AU 2 139291217 139291217 single base substitution C T intron_variant MELA-AU 2 139292301 139292301 single base substitution C T intron_variant MELA-AU 2 139292340 139292340 single base substitution C T intron_variant MELA-AU 2 139293317 139293317 single base substitution C T intron_variant MELA-AU 2 139293966 139293967 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 139294097 139294097 single base substitution C T intron_variant MELA-AU 2 139294139 139294139 single base substitution C T intron_variant MELA-AU 2 139294903 139294903 single base substitution C T intron_variant MELA-AU 2 139295302 139295302 single base substitution C T intron_variant MELA-AU 2 139296506 139296506 single base substitution C T intron_variant MELA-AU 2 139297267 139297267 deletion of <=200bp G - intron_variant MELA-AU 2 139298014 139298014 single base substitution C T intron_variant MELA-AU 2 139298098 139298098 single base substitution C T intron_variant MELA-AU 2 139298576 139298577 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 139299065 139299065 single base substitution C T intron_variant MELA-AU 2 139299627 139299627 single base substitution T A intron_variant MELA-AU 2 139299754 139299754 single base substitution T G intron_variant MELA-AU 2 139299916 139299917 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 139301254 139301254 single base substitution C T intron_variant MELA-AU 2 139301257 139301257 single base substitution C T intron_variant MELA-AU 2 139301432 139301432 single base substitution G A intron_variant MELA-AU 2 139301475 139301475 single base substitution G A intron_variant MELA-AU 2 139301514 139301514 single base substitution T G intron_variant MELA-AU 2 139301729 139301729 single base substitution C A intron_variant MELA-AU 2 139301746 139301746 single base substitution G A intron_variant MELA-AU 2 139301777 139301777 single base substitution C T intron_variant MELA-AU 2 139301870 139301870 single base substitution C T intron_variant MELA-AU 2 139302122 139302122 single base substitution C T intron_variant MELA-AU 2 139302250 139302250 single base substitution C T intron_variant MELA-AU 2 139302426 139302426 single base substitution C A intron_variant MELA-AU 2 139302463 139302463 single base substitution C T intron_variant MELA-AU 2 139302664 139302664 single base substitution C T intron_variant MELA-AU 2 139303241 139303241 single base substitution C T intron_variant MELA-AU 2 139303241 139303241 single base substitution C T upstream_gene_variant MELA-AU 2 139303255 139303255 single base substitution C T intron_variant MELA-AU 2 139303255 139303255 single base substitution C T upstream_gene_variant MELA-AU 2 139304575 139304575 single base substitution G T intron_variant MELA-AU 2 139304575 139304575 single base substitution G T upstream_gene_variant MELA-AU 2 139304700 139304700 single base substitution T C intron_variant MELA-AU 2 139304700 139304700 single base substitution T C upstream_gene_variant MELA-AU 2 139305514 139305514 single base substitution T C intron_variant MELA-AU 2 139305514 139305514 single base substitution T C upstream_gene_variant MELA-AU 2 139305526 139305526 single base substitution C T intron_variant MELA-AU 2 139305526 139305526 single base substitution C T upstream_gene_variant MELA-AU 2 139305827 139305827 single base substitution T A intron_variant MELA-AU 2 139305827 139305827 single base substitution T A upstream_gene_variant MELA-AU 2 139305934 139305934 single base substitution A G intron_variant MELA-AU 2 139305934 139305934 single base substitution A G upstream_gene_variant MELA-AU 2 139306326 139306326 single base substitution T C intron_variant MELA-AU 2 139306326 139306326 single base substitution T C upstream_gene_variant MELA-AU 2 139308046 139308046 single base substitution C T splice_region_variant MELA-AU 2 139308072 139308072 single base substitution C T exon_variant MELA-AU 2 139308072 139308072 single base substitution C T missense_variant S33F 98C>T MELA-AU 2 139308391 139308391 single base substitution C T intron_variant MELA-AU 2 139308526 139308527 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 2 139308526 139308527 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 139308526 139308527 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant S85F 254CC>TT MELA-AU 2 139309117 139309117 single base substitution C T intron_variant MELA-AU 2 139309333 139309333 single base substitution G A intron_variant MELA-AU 2 139309794 139309794 single base substitution C T intron_variant MELA-AU 2 139310642 139310642 single base substitution G A downstream_gene_variant MELA-AU 2 139310642 139310642 single base substitution G A intron_variant MELA-AU 2 139310676 139310676 single base substitution G A downstream_gene_variant MELA-AU 2 139310676 139310676 single base substitution G A intron_variant MELA-AU 2 139311253 139311253 single base substitution C T downstream_gene_variant MELA-AU 2 139311253 139311253 single base substitution C T intron_variant MELA-AU 2 139311308 139311308 single base substitution A C downstream_gene_variant MELA-AU 2 139311308 139311308 single base substitution A C intron_variant MELA-AU 2 139311736 139311736 single base substitution G A downstream_gene_variant MELA-AU 2 139311736 139311736 single base substitution G A intron_variant MELA-AU 2 139312057 139312057 single base substitution C T downstream_gene_variant MELA-AU 2 139312057 139312057 single base substitution C T exon_variant MELA-AU 2 139312057 139312057 single base substitution C T intron_variant MELA-AU 2 139312163 139312163 single base substitution C T downstream_gene_variant MELA-AU 2 139312163 139312163 single base substitution C T intron_variant MELA-AU 2 139312249 139312249 single base substitution G A downstream_gene_variant MELA-AU 2 139312249 139312249 single base substitution G A intron_variant MELA-AU 2 139312447 139312447 single base substitution C T downstream_gene_variant MELA-AU 2 139312447 139312447 single base substitution C T intron_variant MELA-AU 2 139312490 139312490 single base substitution C T downstream_gene_variant MELA-AU 2 139312490 139312490 single base substitution C T intron_variant MELA-AU 2 139312817 139312818 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 139312817 139312818 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 139313059 139313059 single base substitution G A downstream_gene_variant MELA-AU 2 139313059 139313059 single base substitution G A intron_variant MELA-AU 2 139313243 139313243 single base substitution C T downstream_gene_variant MELA-AU 2 139313243 139313243 single base substitution C T intron_variant MELA-AU 2 139314136 139314136 single base substitution C T downstream_gene_variant MELA-AU 2 139314136 139314136 single base substitution C T intron_variant MELA-AU 2 139315102 139315102 single base substitution T C downstream_gene_variant MELA-AU 2 139315102 139315102 single base substitution T C intron_variant MELA-AU 2 139315309 139315309 single base substitution T C intron_variant MELA-AU 2 139315556 139315557 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 139316416 139316416 single base substitution C T intron_variant MELA-AU 2 139316687 139316687 single base substitution T A 3_prime_UTR_variant MELA-AU 2 139316687 139316687 single base substitution T A missense_variant N192K 576T>A MELA-AU 2 139318157 139318157 single base substitution C T intron_variant MELA-AU 2 139318157 139318157 single base substitution C T upstream_gene_variant MELA-AU 2 139318378 139318378 single base substitution C T 3_prime_UTR_variant MELA-AU 2 139318378 139318378 single base substitution C T stop_gained R240* 718C>T MELA-AU 2 139318378 139318378 single base substitution C T upstream_gene_variant MELA-AU 2 139318756 139318756 single base substitution A G intron_variant MELA-AU 2 139318756 139318756 single base substitution A G upstream_gene_variant MELA-AU 2 139319320 139319320 single base substitution C T intron_variant MELA-AU 2 139319320 139319320 single base substitution C T upstream_gene_variant MELA-AU 2 139319442 139319442 single base substitution C T intron_variant MELA-AU 2 139319442 139319442 single base substitution C T upstream_gene_variant MELA-AU 2 139320796 139320796 single base substitution C T intron_variant MELA-AU 2 139320796 139320796 single base substitution C T upstream_gene_variant MELA-AU 2 139320975 139320975 single base substitution C T intron_variant MELA-AU 2 139320975 139320975 single base substitution C T upstream_gene_variant MELA-AU 2 139321612 139321612 single base substitution C T intron_variant MELA-AU 2 139321612 139321612 single base substitution C T upstream_gene_variant MELA-AU 2 139322218 139322218 single base substitution C T exon_variant MELA-AU 2 139322218 139322218 single base substitution C T intron_variant MELA-AU 2 139322361 139322361 single base substitution C T 3_prime_UTR_variant MELA-AU 2 139322361 139322361 single base substitution C T exon_variant MELA-AU 2 139322361 139322361 single base substitution C T synonymous_variant V307V 921C>T MELA-AU 2 139323008 139323008 single base substitution C T downstream_gene_variant MELA-AU 2 139323008 139323008 single base substitution C T intron_variant MELA-AU 2 139323495 139323495 single base substitution G A downstream_gene_variant MELA-AU 2 139323495 139323495 single base substitution G A intron_variant MELA-AU 2 139323511 139323511 single base substitution A G downstream_gene_variant MELA-AU 2 139323511 139323511 single base substitution A G intron_variant MELA-AU 2 139323654 139323654 single base substitution C T downstream_gene_variant MELA-AU 2 139323654 139323654 single base substitution C T intron_variant MELA-AU 2 139324608 139324608 single base substitution C T downstream_gene_variant MELA-AU 2 139324608 139324608 single base substitution C T intron_variant MELA-AU 2 139325479 139325479 single base substitution G A downstream_gene_variant MELA-AU 2 139325479 139325479 single base substitution G A intron_variant MELA-AU 2 139325969 139325969 single base substitution C T downstream_gene_variant MELA-AU 2 139325969 139325969 single base substitution C T intron_variant MELA-AU 2 139326695 139326695 single base substitution C T 3_prime_UTR_variant MELA-AU 2 139326695 139326695 single base substitution C T downstream_gene_variant MELA-AU 2 139326958 139326958 single base substitution C T 3_prime_UTR_variant MELA-AU 2 139326958 139326958 single base substitution C T downstream_gene_variant MELA-AU 2 139326996 139326996 single base substitution T C 3_prime_UTR_variant MELA-AU 2 139326996 139326996 single base substitution T C downstream_gene_variant MELA-AU 2 139327003 139327003 single base substitution G A 3_prime_UTR_variant MELA-AU 2 139327003 139327003 single base substitution G A downstream_gene_variant MELA-AU 2 139327011 139327011 single base substitution C T 3_prime_UTR_variant MELA-AU 2 139327011 139327011 single base substitution C T downstream_gene_variant MELA-AU 2 139327376 139327376 single base substitution A T 3_prime_UTR_variant MELA-AU 2 139327376 139327376 single base substitution A T downstream_gene_variant MELA-AU 2 139328745 139328745 single base substitution C T 3_prime_UTR_variant MELA-AU 2 139328745 139328745 single base substitution C T downstream_gene_variant MELA-AU 2 139328796 139328796 single base substitution C T 3_prime_UTR_variant MELA-AU 2 139328796 139328796 single base substitution C T downstream_gene_variant MELA-AU 2 139329239 139329239 single base substitution C T 3_prime_UTR_variant MELA-AU 2 139329239 139329239 single base substitution C T downstream_gene_variant MELA-AU 2 139329556 139329556 single base substitution G A 3_prime_UTR_variant MELA-AU 2 139329556 139329556 single base substitution G A downstream_gene_variant MELA-AU 2 139330046 139330046 single base substitution A T 3_prime_UTR_variant MELA-AU 2 139330046 139330046 single base substitution A T downstream_gene_variant MELA-AU 2 139330676 139330676 single base substitution T C 3_prime_UTR_variant MELA-AU 2 139330676 139330676 single base substitution T C downstream_gene_variant MELA-AU 2 139331357 139331357 single base substitution G T downstream_gene_variant MELA-AU 2 139331682 139331682 single base substitution C T downstream_gene_variant MELA-AU 2 139331693 139331693 single base substitution C T downstream_gene_variant MELA-AU 2 139331715 139331715 single base substitution C T downstream_gene_variant MELA-AU 2 139331722 139331722 single base substitution C T downstream_gene_variant MELA-AU 2 139332199 139332199 single base substitution T C downstream_gene_variant MELA-AU 2 139332601 139332601 single base substitution C T downstream_gene_variant MELA-AU 2 139332876 139332876 single base substitution G T downstream_gene_variant MELA-AU 2 139332901 139332901 single base substitution C T downstream_gene_variant MELA-AU 2 139332928 139332928 single base substitution C T downstream_gene_variant MELA-AU 2 139333384 139333384 single base substitution C T downstream_gene_variant MELA-AU 2 139333418 139333418 single base substitution C T downstream_gene_variant MELA-AU 2 139333907 139333907 single base substitution C T downstream_gene_variant MELA-AU 2 139334370 139334370 single base substitution C T downstream_gene_variant MELA-AU 2 139334417 139334417 single base substitution A C downstream_gene_variant MELA-AU 2 139334661 139334661 single base substitution C T downstream_gene_variant MELA-AU 2 139335295 139335295 single base substitution A T downstream_gene_variant MELA-AU 2 139335301 139335301 single base substitution C T downstream_gene_variant MELA-AU 2 139335440 139335440 single base substitution C T downstream_gene_variant MELA-AU 2 139335953 139335953 single base substitution G A downstream_gene_variant ORCA-IN 2 139285320 139285320 single base substitution G C intron_variant ORCA-IN 2 139295955 139295955 insertion of <=200bp - T intron_variant OV-AU 2 139274005 139274005 single base substitution T G intron_variant OV-AU 2 139280227 139280227 single base substitution A G intron_variant OV-AU 2 139284118 139284118 single base substitution T C intron_variant OV-AU 2 139284507 139284507 single base substitution G C intron_variant OV-AU 2 139288706 139288706 single base substitution G T intron_variant OV-AU 2 139290925 139290925 single base substitution G C intron_variant OV-AU 2 139297646 139297646 single base substitution G C intron_variant OV-AU 2 139298101 139298101 single base substitution G C intron_variant OV-AU 2 139299506 139299506 single base substitution G T intron_variant OV-AU 2 139307038 139307038 single base substitution C T intron_variant OV-AU 2 139307038 139307038 single base substitution C T upstream_gene_variant OV-AU 2 139308354 139308354 single base substitution G C intron_variant OV-AU 2 139309932 139309932 single base substitution G C intron_variant OV-AU 2 139311043 139311043 single base substitution G A downstream_gene_variant OV-AU 2 139311043 139311043 single base substitution G A intron_variant OV-AU 2 139312739 139312739 single base substitution T C downstream_gene_variant OV-AU 2 139312739 139312739 single base substitution T C intron_variant OV-AU 2 139315935 139315935 single base substitution A G intron_variant OV-AU 2 139317255 139317255 single base substitution T G intron_variant OV-AU 2 139317255 139317255 single base substitution T G upstream_gene_variant OV-AU 2 139317865 139317865 single base substitution G A intron_variant OV-AU 2 139317865 139317865 single base substitution G A upstream_gene_variant OV-AU 2 139320996 139320996 single base substitution G A intron_variant OV-AU 2 139320996 139320996 single base substitution G A upstream_gene_variant OV-AU 2 139321491 139321491 single base substitution G A intron_variant OV-AU 2 139321491 139321491 single base substitution G A upstream_gene_variant OV-AU 2 139326067 139326067 single base substitution G C downstream_gene_variant OV-AU 2 139326067 139326067 single base substitution G C intron_variant OV-AU 2 139335273 139335273 single base substitution T C downstream_gene_variant OV-AU 2 139336115 139336115 single base substitution G A downstream_gene_variant PACA-AU 2 139259321 139259321 single base substitution C T upstream_gene_variant PACA-AU 2 139264477 139264477 single base substitution C G intron_variant PACA-AU 2 139266119 139266119 single base substitution T G intron_variant PACA-AU 2 139267161 139267161 single base substitution T A intron_variant PACA-AU 2 139277682 139277682 single base substitution A C intron_variant PACA-AU 2 139279142 139279142 single base substitution T G intron_variant PACA-AU 2 139279165 139279165 single base substitution A G intron_variant PACA-AU 2 139282804 139282804 single base substitution C G intron_variant PACA-AU 2 139286034 139286034 single base substitution T G intron_variant PACA-AU 2 139287184 139287184 single base substitution A G intron_variant PACA-AU 2 139295175 139295175 single base substitution C T intron_variant PACA-AU 2 139295380 139295380 single base substitution T G intron_variant PACA-AU 2 139305490 139305490 single base substitution G A intron_variant PACA-AU 2 139305490 139305490 single base substitution G A upstream_gene_variant PACA-AU 2 139313889 139313889 insertion of <=200bp - T downstream_gene_variant PACA-AU 2 139313889 139313889 insertion of <=200bp - T intron_variant PACA-AU 2 139314117 139314117 single base substitution G A downstream_gene_variant PACA-AU 2 139314117 139314117 single base substitution G A intron_variant PACA-AU 2 139314594 139314594 single base substitution C T downstream_gene_variant PACA-AU 2 139314594 139314594 single base substitution C T intron_variant PACA-AU 2 139316245 139316245 single base substitution T A intron_variant PACA-AU 2 139317875 139317875 single base substitution C G intron_variant PACA-AU 2 139317875 139317875 single base substitution C G upstream_gene_variant PACA-AU 2 139322523 139322523 insertion of <=200bp - C 3_prime_UTR_variant PACA-AU 2 139322523 139322523 insertion of <=200bp - C exon_variant PACA-AU 2 139322523 139322523 insertion of <=200bp - C frameshift_variant R332P? PACA-AU 2 139332237 139332237 single base substitution G A downstream_gene_variant PACA-AU 2 139335752 139335752 single base substitution C G downstream_gene_variant PACA-CA 2 139258308 139258308 insertion of <=200bp - A upstream_gene_variant PACA-CA 2 139259250 139259250 single base substitution G A upstream_gene_variant PACA-CA 2 139262640 139262640 single base substitution T C intron_variant PACA-CA 2 139264973 139264973 single base substitution G A intron_variant PACA-CA 2 139265498 139265498 single base substitution A T intron_variant PACA-CA 2 139267979 139267979 single base substitution G C intron_variant PACA-CA 2 139275350 139275350 single base substitution C T intron_variant PACA-CA 2 139277959 139277959 single base substitution T G intron_variant PACA-CA 2 139282712 139282712 single base substitution G A intron_variant PACA-CA 2 139283979 139283979 single base substitution C T intron_variant PACA-CA 2 139285308 139285308 single base substitution G A intron_variant PACA-CA 2 139291108 139291108 single base substitution T C intron_variant PACA-CA 2 139292734 139292734 single base substitution A C intron_variant PACA-CA 2 139299646 139299646 single base substitution C G intron_variant PACA-CA 2 139305442 139305442 deletion of <=200bp T - intron_variant PACA-CA 2 139305442 139305442 deletion of <=200bp T - upstream_gene_variant PACA-CA 2 139306094 139306094 single base substitution T C intron_variant PACA-CA 2 139306094 139306094 single base substitution T C upstream_gene_variant PACA-CA 2 139306593 139306597 deletion of <=200bp GATGG - intron_variant PACA-CA 2 139306593 139306597 deletion of <=200bp GATGG - upstream_gene_variant PACA-CA 2 139307883 139307883 single base substitution C A intron_variant PACA-CA 2 139309697 139309697 single base substitution C A intron_variant PACA-CA 2 139310094 139310094 single base substitution T G intron_variant PACA-CA 2 139310876 139310876 single base substitution G A downstream_gene_variant PACA-CA 2 139310876 139310876 single base substitution G A intron_variant PACA-CA 2 139317408 139317408 single base substitution G C intron_variant PACA-CA 2 139317408 139317408 single base substitution G C upstream_gene_variant PACA-CA 2 139318436 139318436 single base substitution A C 3_prime_UTR_variant PACA-CA 2 139318436 139318436 single base substitution A C missense_variant Y259S 776A>C PACA-CA 2 139318436 139318436 single base substitution A C upstream_gene_variant PACA-CA 2 139321106 139321106 single base substitution C A intron_variant PACA-CA 2 139321106 139321106 single base substitution C A upstream_gene_variant PACA-CA 2 139321935 139321935 single base substitution T C intron_variant PACA-CA 2 139321935 139321935 single base substitution T C upstream_gene_variant PACA-CA 2 139322476 139322476 insertion of <=200bp - T intron_variant PACA-CA 2 139322477 139322477 deletion of <=200bp T - intron_variant PACA-CA 2 139323420 139323420 single base substitution C T downstream_gene_variant PACA-CA 2 139323420 139323420 single base substitution C T intron_variant PACA-CA 2 139327786 139327786 single base substitution G C 3_prime_UTR_variant PACA-CA 2 139327786 139327786 single base substitution G C downstream_gene_variant PACA-CA 2 139328192 139328192 single base substitution C T 3_prime_UTR_variant PACA-CA 2 139328192 139328192 single base substitution C T downstream_gene_variant PACA-CA 2 139330027 139330027 single base substitution G C 3_prime_UTR_variant PACA-CA 2 139330027 139330027 single base substitution G C downstream_gene_variant PACA-CA 2 139330316 139330316 single base substitution C T 3_prime_UTR_variant PACA-CA 2 139330316 139330316 single base substitution C T downstream_gene_variant PACA-CA 2 139333998 139333998 single base substitution C A downstream_gene_variant PACA-CA 2 139334552 139334552 single base substitution C T downstream_gene_variant PACA-CA 2 139334557 139334557 single base substitution A G downstream_gene_variant PACA-CA 2 139334783 139334783 single base substitution T G downstream_gene_variant PAEN-AU 2 139295304 139295304 single base substitution T C intron_variant PAEN-AU 2 139299831 139299831 single base substitution C T intron_variant PAEN-AU 2 139308389 139308389 single base substitution C T intron_variant PAEN-AU 2 139308767 139308767 single base substitution A T intron_variant PAEN-AU 2 139328468 139328468 single base substitution T C 3_prime_UTR_variant PAEN-AU 2 139328468 139328468 single base substitution T C downstream_gene_variant PAEN-IT 2 139285449 139285449 single base substitution C T intron_variant PAEN-IT 2 139302765 139302765 single base substitution A T intron_variant PAEN-IT 2 139302765 139302765 single base substitution A T upstream_gene_variant PBCA-DE 2 139256677 139256678 deletion of <=200bp TT - upstream_gene_variant PBCA-DE 2 139257248 139257248 single base substitution C T upstream_gene_variant PBCA-DE 2 139284667 139284667 single base substitution G T intron_variant PBCA-DE 2 139287666 139287666 single base substitution G A intron_variant PBCA-DE 2 139288078 139288078 single base substitution A G intron_variant PBCA-DE 2 139294222 139294222 insertion of <=200bp - T intron_variant PBCA-DE 2 139298014 139298014 single base substitution C A intron_variant PBCA-DE 2 139310623 139310623 single base substitution T A downstream_gene_variant PBCA-DE 2 139310623 139310623 single base substitution T A intron_variant PBCA-DE 2 139319278 139319278 insertion of <=200bp - A intron_variant PBCA-DE 2 139319278 139319278 insertion of <=200bp - A upstream_gene_variant PBCA-DE 2 139331375 139331375 single base substitution G A downstream_gene_variant PBCA-DE 2 139334799 139334800 deletion of <=200bp GA - downstream_gene_variant PRAD-CA 2 139255946 139255946 single base substitution A C upstream_gene_variant PRAD-CA 2 139256869 139256869 single base substitution G A upstream_gene_variant PRAD-CA 2 139268257 139268257 single base substitution T C intron_variant PRAD-CA 2 139282344 139282344 single base substitution A C intron_variant PRAD-CA 2 139292295 139292295 single base substitution A G intron_variant PRAD-CA 2 139304640 139304640 single base substitution A G intron_variant PRAD-CA 2 139304640 139304640 single base substitution A G upstream_gene_variant PRAD-CA 2 139304925 139304925 single base substitution G C intron_variant PRAD-CA 2 139304925 139304925 single base substitution G C upstream_gene_variant PRAD-CA 2 139331083 139331083 single base substitution T C 3_prime_UTR_variant PRAD-CA 2 139331083 139331083 single base substitution T C downstream_gene_variant PRAD-CA 2 139334798 139334798 single base substitution T A downstream_gene_variant PRAD-UK 2 139260629 139260629 single base substitution T C intron_variant PRAD-UK 2 139260630 139260630 single base substitution C A intron_variant PRAD-UK 2 139263314 139263314 single base substitution G C intron_variant PRAD-UK 2 139279435 139279435 single base substitution A G intron_variant PRAD-UK 2 139280251 139280251 single base substitution C A intron_variant PRAD-UK 2 139286026 139286026 single base substitution A G intron_variant PRAD-UK 2 139296670 139296670 single base substitution T C intron_variant PRAD-UK 2 139297150 139297150 single base substitution C A intron_variant PRAD-UK 2 139297152 139297152 single base substitution C A intron_variant PRAD-UK 2 139307357 139307357 single base substitution T G intron_variant PRAD-UK 2 139307357 139307357 single base substitution T G upstream_gene_variant PRAD-UK 2 139312970 139312970 single base substitution A T downstream_gene_variant PRAD-UK 2 139312970 139312970 single base substitution A T intron_variant PRAD-UK 2 139317400 139317400 single base substitution C T intron_variant PRAD-UK 2 139317400 139317400 single base substitution C T upstream_gene_variant PRAD-US 2 139318404 139318404 single base substitution T C 3_prime_UTR_variant PRAD-US 2 139318404 139318404 single base substitution T C synonymous_variant P248P 744T>C PRAD-US 2 139318404 139318404 single base substitution T C upstream_gene_variant READ-US 2 139308084 139308084 single base substitution C T exon_variant READ-US 2 139308084 139308084 single base substitution C T missense_variant T37I 110C>T READ-US 2 139316672 139316672 single base substitution A G 3_prime_UTR_variant READ-US 2 139316672 139316672 single base substitution A G synonymous_variant A187A 561A>G RECA-EU 2 139262309 139262309 single base substitution G A intron_variant RECA-EU 2 139266698 139266698 single base substitution G C intron_variant RECA-EU 2 139277594 139277594 single base substitution A C intron_variant RECA-EU 2 139285927 139285927 single base substitution A G intron_variant RECA-EU 2 139289112 139289112 single base substitution C T intron_variant RECA-EU 2 139294821 139294821 single base substitution A G intron_variant RECA-EU 2 139313342 139313342 single base substitution C G downstream_gene_variant RECA-EU 2 139313342 139313342 single base substitution C G intron_variant RECA-EU 2 139326143 139326143 single base substitution G A downstream_gene_variant RECA-EU 2 139326143 139326143 single base substitution G A intron_variant RECA-EU 2 139327552 139327552 single base substitution T G 3_prime_UTR_variant RECA-EU 2 139327552 139327552 single base substitution T G downstream_gene_variant RECA-EU 2 139330082 139330082 single base substitution T C 3_prime_UTR_variant RECA-EU 2 139330082 139330082 single base substitution T C downstream_gene_variant SKCA-BR 2 139263825 139263825 single base substitution C T intron_variant SKCA-BR 2 139263987 139263987 single base substitution G A intron_variant SKCA-BR 2 139275286 139275286 single base substitution G A intron_variant SKCA-BR 2 139277218 139277218 single base substitution T A intron_variant SKCA-BR 2 139277993 139277993 single base substitution A G intron_variant SKCA-BR 2 139283226 139283226 insertion of <=200bp - GA intron_variant SKCA-BR 2 139284297 139284297 insertion of <=200bp - AT intron_variant SKCA-BR 2 139285982 139285982 single base substitution C T intron_variant SKCA-BR 2 139285983 139285983 single base substitution C T intron_variant SKCA-BR 2 139286561 139286561 single base substitution C T intron_variant SKCA-BR 2 139287093 139287093 single base substitution T C intron_variant SKCA-BR 2 139287106 139287106 single base substitution T C intron_variant SKCA-BR 2 139291063 139291063 single base substitution C T intron_variant SKCA-BR 2 139292331 139292331 single base substitution C T intron_variant SKCA-BR 2 139294058 139294058 single base substitution C T intron_variant SKCA-BR 2 139300467 139300467 single base substitution C T intron_variant SKCA-BR 2 139301026 139301026 single base substitution G A intron_variant SKCA-BR 2 139301233 139301233 single base substitution C T intron_variant SKCA-BR 2 139301253 139301253 single base substitution T A intron_variant SKCA-BR 2 139301254 139301254 single base substitution C T intron_variant SKCA-BR 2 139301575 139301575 single base substitution C T intron_variant SKCA-BR 2 139303576 139303576 single base substitution C G intron_variant SKCA-BR 2 139303576 139303576 single base substitution C G upstream_gene_variant SKCA-BR 2 139304750 139304750 single base substitution G A intron_variant SKCA-BR 2 139304750 139304750 single base substitution G A upstream_gene_variant SKCA-BR 2 139305353 139305353 single base substitution A C intron_variant SKCA-BR 2 139305353 139305353 single base substitution A C upstream_gene_variant SKCA-BR 2 139306265 139306265 single base substitution T C intron_variant SKCA-BR 2 139306265 139306265 single base substitution T C upstream_gene_variant SKCA-BR 2 139307419 139307419 single base substitution C T intron_variant SKCA-BR 2 139307419 139307419 single base substitution C T upstream_gene_variant SKCA-BR 2 139310709 139310709 single base substitution A C downstream_gene_variant SKCA-BR 2 139310709 139310709 single base substitution A C intron_variant SKCA-BR 2 139311210 139311210 single base substitution A T downstream_gene_variant SKCA-BR 2 139311210 139311210 single base substitution A T intron_variant SKCA-BR 2 139312083 139312083 single base substitution C T downstream_gene_variant SKCA-BR 2 139312083 139312083 single base substitution C T exon_variant SKCA-BR 2 139312083 139312083 single base substitution C T intron_variant SKCA-BR 2 139313959 139313959 single base substitution C T downstream_gene_variant SKCA-BR 2 139313959 139313959 single base substitution C T intron_variant SKCA-BR 2 139314575 139314575 single base substitution G A downstream_gene_variant SKCA-BR 2 139314575 139314575 single base substitution G A intron_variant SKCA-BR 2 139318367 139318367 single base substitution G A splice_region_variant SKCA-BR 2 139318367 139318367 single base substitution G A upstream_gene_variant SKCA-BR 2 139325560 139325560 single base substitution G A downstream_gene_variant SKCA-BR 2 139325560 139325560 single base substitution G A intron_variant SKCA-BR 2 139330220 139330220 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 139330220 139330220 single base substitution C T downstream_gene_variant SKCA-BR 2 139332498 139332498 single base substitution G A downstream_gene_variant SKCA-BR 2 139332601 139332601 single base substitution C T downstream_gene_variant SKCA-BR 2 139334798 139334798 insertion of <=200bp - TGA downstream_gene_variant SKCM-US 2 139307791 139307791 single base substitution C T exon_variant SKCM-US 2 139307791 139307791 single base substitution C T missense_variant S2F 5C>T SKCM-US 2 139308107 139308107 single base substitution C T exon_variant SKCM-US 2 139308107 139308107 single base substitution C T stop_gained R45* 133C>T SKCM-US 2 139308526 139308526 single base substitution C T exon_variant SKCM-US 2 139308526 139308526 single base substitution C T intron_variant SKCM-US 2 139308526 139308526 single base substitution C T missense_variant S85F 254C>T SKCM-US 2 139308617 139308617 single base substitution A T 3_prime_UTR_variant SKCM-US 2 139308617 139308617 single base substitution A T exon_variant SKCM-US 2 139308617 139308617 single base substitution A T missense_variant K115N 345A>T SKCM-US 2 139316692 139316692 single base substitution G T 3_prime_UTR_variant SKCM-US 2 139316692 139316692 single base substitution G T missense_variant W194L 581G>T SKCM-US 2 139326535 139326535 single base substitution G T 3_prime_UTR_variant SKCM-US 2 139326535 139326535 single base substitution G T downstream_gene_variant SKCM-US 2 139326535 139326535 single base substitution G T missense_variant G355V 1064G>T SKCM-US 2 139326544 139326544 single base substitution C T 3_prime_UTR_variant SKCM-US 2 139326544 139326544 single base substitution C T downstream_gene_variant SKCM-US 2 139326544 139326544 single base substitution C T missense_variant S358F 1073C>T SKCM-US 2 139326593 139326593 single base substitution A T 3_prime_UTR_variant SKCM-US 2 139326593 139326593 single base substitution A T downstream_gene_variant SKCM-US 2 139326593 139326593 single base substitution A T synonymous_variant L374L 1122A>T STAD-US 2 139308136 139308136 single base substitution T C exon_variant STAD-US 2 139308136 139308136 single base substitution T C synonymous_variant S54S 162T>C STAD-US 2 139316684 139316684 single base substitution T A 3_prime_UTR_variant STAD-US 2 139316684 139316684 single base substitution T A synonymous_variant G191G 573T>A STAD-US 2 139316695 139316695 single base substitution A G 3_prime_UTR_variant STAD-US 2 139316695 139316695 single base substitution A G missense_variant E195G 584A>G STAD-US 2 139316720 139316720 deletion of <=200bp T - 3_prime_UTR_variant STAD-US 2 139316720 139316720 deletion of <=200bp T - frameshift_variant S203 STAD-US 2 139316735 139316735 single base substitution A G 3_prime_UTR_variant STAD-US 2 139316735 139316735 single base substitution A G synonymous_variant G208G 624A>G STAD-US 2 139318409 139318409 insertion of <=200bp - T 3_prime_UTR_variant STAD-US 2 139318409 139318409 insertion of <=200bp - T frameshift_variant V250V? STAD-US 2 139318409 139318409 insertion of <=200bp - T upstream_gene_variant STAD-US 2 139318420 139318420 single base substitution A G 3_prime_UTR_variant STAD-US 2 139318420 139318420 single base substitution A G missense_variant M254V 760A>G STAD-US 2 139318420 139318420 single base substitution A G upstream_gene_variant STAD-US 2 139326567 139326567 single base substitution T A 3_prime_UTR_variant STAD-US 2 139326567 139326567 single base substitution T A downstream_gene_variant STAD-US 2 139326567 139326567 single base substitution T A missense_variant L366I 1096T>A STAD-US 2 139326627 139326627 single base substitution C T 3_prime_UTR_variant STAD-US 2 139326627 139326627 single base substitution C T downstream_gene_variant STAD-US 2 139326627 139326627 single base substitution C T missense_variant R386C 1156C>T STAD-US 2 139326628 139326628 single base substitution G A 3_prime_UTR_variant STAD-US 2 139326628 139326628 single base substitution G A downstream_gene_variant STAD-US 2 139326628 139326628 single base substitution G A missense_variant R386H 1157G>A THCA-SA 2 139330057 139330057 single base substitution G A 3_prime_UTR_variant THCA-SA 2 139330057 139330057 single base substitution G A downstream_gene_variant UCEC-US 2 139310141 139310141 single base substitution C T 3_prime_UTR_variant UCEC-US 2 139310141 139310141 single base substitution C T exon_variant UCEC-US 2 139310141 139310141 single base substitution C T stop_gained R124* 370C>T UCEC-US 2 139316680 139316680 single base substitution T C 3_prime_UTR_variant UCEC-US 2 139316680 139316680 single base substitution T C missense_variant L190S 569T>C UCEC-US 2 139316877 139316877 single base substitution G A 3_prime_UTR_variant UCEC-US 2 139316877 139316877 single base substitution G A missense_variant M228I 684G>A UCEC-US 2 139318379 139318379 single base substitution G A 3_prime_UTR_variant UCEC-US 2 139318379 139318379 single base substitution G A missense_variant R240Q 719G>A UCEC-US 2 139318379 139318379 single base substitution G A upstream_gene_variant UCEC-US 2 139322307 139322307 single base substitution C T 3_prime_UTR_variant UCEC-US 2 139322307 139322307 single base substitution C T exon_variant UCEC-US 2 139322307 139322307 single base substitution C T synonymous_variant C289C 867C>T UCEC-US 2 139322338 139322338 single base substitution G A 3_prime_UTR_variant UCEC-US 2 139322338 139322338 single base substitution G A exon_variant UCEC-US 2 139322338 139322338 single base substitution G A missense_variant E300K 898G>A UCEC-US 2 139322400 139322400 single base substitution A C 3_prime_UTR_variant UCEC-US 2 139322400 139322400 single base substitution A C exon_variant UCEC-US 2 139322400 139322400 single base substitution A C missense_variant Q320H 960A>C UCEC-US 2 139326627 139326627 single base substitution C T 3_prime_UTR_variant UCEC-US 2 139326627 139326627 single base substitution C T downstream_gene_variant UCEC-US 2 139326627 139326627 single base substitution C T missense_variant R386C 1156C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BR-6452-01 COSM4085111 c.162T>C p.S54S Substitution - coding silent 2:138550566-138550566 + ESO-143 COSM1266675 c.1063G>A p.G355R Substitution - Missense 2:138568964-138568964 + PCSI_0009_Pa_X COSM3379779 c.776A>C p.Y259S Substitution - Missense 2:138560866-138560866 + TCGA-A4-7286-01 COSM3990622 c.300A>G p.A100A Substitution - coding silent 2:138551002-138551002 + CHC1028T COSM4790846 c.627A>C p.Q209H Substitution - Missense 2:138559168-138559168 + CRC-05T COSM5468520 c.1163G>A p.R388Q Substitution - Missense 2:138569064-138569064 + TCGA-DM-A28E-01 COSM1399664 c.329A>G p.K110R Substitution - Missense 2:138551031-138551031 + TCGA-DS-A1OA-01 COSM3117066 c.1085C>G p.S362C Substitution - Missense 2:138568986-138568986 + 3402_T COSM3961210 c.743C>G p.P248R Substitution - Missense 2:138560833-138560833 + sysucc-1317T COSM5449507 c.520A>G p.T174A Substitution - Missense 2:138559061-138559061 + PD11326a COSM5800302 c.476G>T p.C159F Substitution - Missense 2:138552677-138552677 + TCGA-DM-A28G-01 COSM5170805 c.658+9T>A p.? Unknown 2:138559208-138559208 + TCGA-D5-6930-01 COSM5166435 c.280C>T p.P94S Substitution - Missense 2:138550982-138550982 + TCGA-EI-6513-01 COSM3425221 c.561A>G p.A187A Substitution - coding silent 2:138559102-138559102 + TCGA-AA-A02R-01 COSM5127067 c.183A>G p.P61P Substitution - coding silent 2:138550587-138550587 + TCGA-E9-A226-01 COSM1481978 c.601G>T p.D201Y Substitution - Missense 2:138559142-138559142 + Pat_53_B COSM5860162 c.1007G>A p.C336Y Substitution - Missense 2:138564966-138564966 + TCGA-HU-A4H4-01 COSM4085112 c.573T>A p.G191G Substitution - coding silent 2:138559114-138559114 + TCGA-B5-A11N-01 COSM1006969 c.1156C>T p.R386C Substitution - Missense 2:138569057-138569057 + TCGA-B5-A11G-01 COSM1006967 c.898G>A p.E300K Substitution - Missense 2:138564768-138564768 + TCGA-BR-8690-01 COSM4085116 c.1096T>A p.L366I Substitution - Missense 2:138568997-138568997 + 41P3 COSM3379779 c.776A>C p.Y259S Substitution - Missense 2:138560866-138560866 + HCC109T COSM1613430 c.990A>G p.V330V Substitution - coding silent 2:138564949-138564949 + TCGA-BS-A0TA-01 COSM1006968 c.960A>C p.Q320H Substitution - Missense 2:138564830-138564830 + TCGA-A8-A0A6-01 COSM3836929 c.1066T>G p.W356G Substitution - Missense 2:138568967-138568967 + 1_RESISTANT COSM267495 c.98C>T p.S33F Substitution - Missense 2:138550502-138550502 + 1T COSM108729 c.217C>T p.P73S Substitution - Missense 2:138550919-138550919 + TCGA-A5-A0GP-01 COSM1006961 c.370C>T p.R124* Substitution - Nonsense 2:138552571-138552571 + RK119_C01 COSM3743868 c.998A>G p.Q333R Substitution - Missense 2:138564957-138564957 + TCGA-G9-6339-01 COSM4392493 c.744T>C p.P248P Substitution - coding silent 2:138560834-138560834 + sysucc-1972T COSM5480430 c.1047C>A p.D349E Substitution - Missense 2:138568948-138568948 + ccRCC-9 COSM1006963 c.679G>A p.A227T Substitution - Missense 2:138559302-138559302 + T2197 COSM4729699 c.1031G>A p.S344N Substitution - Missense 2:138564990-138564990 + Pat_63_A COSM5860163 c.1114_1115delCG p.R372fs*>21 Deletion - Frameshift 2:138569015-138569016 + RK070_C01 COSM3743869 c.1130C>T p.A377V Substitution - Missense 2:138569031-138569031 + YUKAT COSM5394422 c.838-2A>T p.? Unknown 2:138564706-138564706 + LUAD-S01357 COSM387094 c.451C>A p.P151T Substitution - Missense 2:138552652-138552652 + TCGA-66-2793-01 COSM716671 c.502G>A p.V168I Substitution - Missense 2:138559043-138559043 + TCGA-EE-A183-06 COSM3567080 c.345A>T p.K115N Substitution - Missense 2:138551047-138551047 + 13542 COSM716668 c.1155A>T p.P385P Substitution - coding silent 2:138569056-138569056 + TCGA-BR-4292-01 COSM4085117 c.1157G>A p.R386H Substitution - Missense 2:138569058-138569058 + TCGA-EE-A3J7-06 COSM3894855 c.133C>T p.R45* Substitution - Nonsense 2:138550537-138550537 + TCGA-FU-A23L-01 COSM459620 c.207G>A p.L69L Substitution - coding silent 2:138550909-138550909 + KM12 COSM3117058 c.784A>G p.R262G Substitution - Missense 2:138560874-138560874 + TCGA-D9-A1JW-06 COSM3567079 c.254C>T p.S85F Substitution - Missense 2:138550956-138550956 + TCGA-D7-A4YV-01 COSM4085114 c.624A>G p.G208G Substitution - coding silent 2:138559165-138559165 + TCGA-D8-A1JK-01 COSM3836928 c.613T>C p.F205L Substitution - Missense 2:138559154-138559154 + TCGA-CA-6716-01 COSM1399666 c.735T>G p.D245E Substitution - Missense 2:138560825-138560825 + TCGA-AZ-4315-01 COSM1399662 c.162T>G p.S54R Substitution - Missense 2:138550566-138550566 + TCGA-B9-5155-01 COSM3990623 c.748G>A p.V250I Substitution - Missense 2:138560838-138560838 + TCGA-33-4532-01 COSM716673 c.388G>T p.D130Y Substitution - Missense 2:138552589-138552589 + TCGA-AA-3672-01 COSM267495 c.98C>T p.S33F Substitution - Missense 2:138550502-138550502 + RK079_C01 COSM1631289 c.537G>A p.L179L Substitution - coding silent 2:138559078-138559078 + H838 COSM1193130 c.1173G>C p.Q391H Substitution - Missense 2:138569074-138569074 + 41T COSM3379779 c.776A>C p.Y259S Substitution - Missense 2:138560866-138560866 + TCGA-FS-A1ZA-06 COSM3567078 c.5C>T p.S2F Substitution - Missense 2:138550221-138550221 + TCGA-EE-A29M-06 COSM3567083 c.1122A>T p.L374L Substitution - coding silent 2:138569023-138569023 + TCGA-BI-A0VR-01 COSM461354 c.733G>A p.D245N Substitution - Missense 2:138560823-138560823 + CSCC-16-T COSM4454206 c.434A>G p.E145G Substitution - Missense 2:138552635-138552635 + TCGA-Q2-A5QZ-01 COSM3990624 c.935A>G p.H312R Substitution - Missense 2:138564805-138564805 + DF01 COSM5759420 c.1042A>G p.T348A Substitution - Missense 2:138568943-138568943 + pfg108T COSM4761928 c.58G>A p.E20K Substitution - Missense 2:138550274-138550274 + TCGA-EI-6917-01 COSM3425220 c.110C>T p.T37I Substitution - Missense 2:138550514-138550514 + TCGA-D3-A3CB-06 COSM3567082 c.1064G>T p.G355V Substitution - Missense 2:138568965-138568965 + CHC892T COSM4959372 c.688G>A p.E230K Substitution - Missense 2:138559311-138559311 + TCGA-AC-A23H-01 COSM3836927 c.207G>T p.L69L Substitution - coding silent 2:138550909-138550909 + TCGA-AZ-4315-01 COSM1006961 c.370C>T p.R124* Substitution - Nonsense 2:138552571-138552571 + TCGA-FW-A3R5-06 COSM3894856 c.1073C>T p.S358F Substitution - Missense 2:138568974-138568974 + ESO-114 COSM1266674 c.544C>A p.P182T Substitution - Missense 2:138559085-138559085 + HX33T COSM3708919 c.1007G>T p.C336F Substitution - Missense 2:138564966-138564966 + TCGA-BR-8680-01 COSM4085113 c.584A>G p.E195G Substitution - Missense 2:138559125-138559125 + HCC27 COSM3708919 c.1007G>T p.C336F Substitution - Missense 2:138564966-138564966 + HT115 COSM3117052 c.576T>A p.N192K Substitution - Missense 2:138559117-138559117 + TCGA-66-2780-01 COSM716674 c.296G>C p.R99P Substitution - Missense 2:138550998-138550998 + TCGA-66-2781-01 COSM716670 c.553C>G p.R185G Substitution - Missense 2:138559094-138559094 + TCGA-37-5819-01 COSM716672 c.478G>T p.E160* Substitution - Nonsense 2:138552679-138552679 + HCC38 COSM50988 c.207G>C p.L69L Substitution - coding silent 2:138550909-138550909 + TCGA-AA-3666-01 COSM292666 c.84A>C p.K28N Substitution - Missense 2:138550488-138550488 + 1T COSM109899 c.218C>T p.P73L Substitution - Missense 2:138550920-138550920 + TCGA-FP-A4BE-01 COSM4085115 c.760A>G p.M254V Substitution - Missense 2:138560850-138560850 + TCGA-AP-A056-01 COSM1006965 c.719G>A p.R240Q Substitution - Missense 2:138560809-138560809 + LC_C8 COSM1186016 c.497A>G p.D166G Substitution - Missense 2:138559038-138559038 + sysucc-627T COSM5468036 c.352+3A>G p.? Unknown 2:138551057-138551057 + CHC892T COSM4959372 c.688G>A p.E230K Substitution - Missense 2:138559311-138559311 + TCGA-66-2785-01 COSM716669 c.565G>A p.D189N Substitution - Missense 2:138559106-138559106 + 1_PRE-TREATMENT COSM267495 c.98C>T p.S33F Substitution - Missense 2:138550502-138550502 + HCC109 COSM1613430 c.990A>G p.V330V Substitution - coding silent 2:138564949-138564949 + TCGA-C5-A1MH-01 COSM4821040 c.1114C>T p.R372* Substitution - Nonsense 2:138569015-138569015 + TCGA-ER-A19P-06 COSM3567081 c.581G>T p.W194L Substitution - Missense 2:138559122-138559122 + TCGA-BR-7901-01 COSM1006969 c.1156C>T p.R386C Substitution - Missense 2:138569057-138569057 + BD246T COSM5496068 c.148G>A p.E50K Substitution - Missense 2:138550552-138550552 + TCGA-BS-A0UF-01 COSM1006966 c.867C>T p.C289C Substitution - coding silent 2:138564737-138564737 + S02209 COSM5675268 c.151G>A p.V51M Substitution - Missense 2:138550555-138550555 + TCGA-BT-A2LB-01 COSM3798009 c.306C>T p.F102F Substitution - coding silent 2:138551008-138551008 + TCGA-29-1693-01 COSM1325897 c.852_860delGCTGAAGGT p.L285_V287delLKV Deletion - In frame 2:138564722-138564730 + SJHGG034_D COSM4970595 c.1162C>T p.R388W Substitution - Missense 2:138569063-138569063 + TCGA-AA-A02E-01 COSM5125323 c.1043C>A p.T348N Substitution - Missense 2:138568944-138568944 + PA285 COSM1163222 c.771C>T p.F257F Substitution - coding silent 2:138560861-138560861 + pfg258T COSM4761931 c.1022A>C p.N341T Substitution - Missense 2:138564981-138564981 + EGC15 COSM5058101 c.794A>G p.N265S Substitution - Missense 2:138560884-138560884 + HCC27T COSM3708919 c.1007G>T p.C336F Substitution - Missense 2:138564966-138564966 + CHC1028T COSM4790846 c.627A>C p.Q209H Substitution - Missense 2:138559168-138559168 + ESCC_BICR_039T COSM5429604 c.898G>C p.E300Q Substitution - Missense 2:138564768-138564768 + TCGA-G4-6586-01 COSM1399667 c.827C>T p.A276V Substitution - Missense 2:138560917-138560917 + TCGA-AP-A051-01 COSM1006964 c.684G>A p.M228I Substitution - Missense 2:138559307-138559307 + TCGA-D5-6541-01 COSM1399665 c.640C>G p.H214D Substitution - Missense 2:138559181-138559181 + BD243T COSM5501710 c.980+8A>G p.? Unknown 2:138564858-138564858 + T2417 COSM3894855 c.133C>T p.R45* Substitution - Nonsense 2:138550537-138550537 + TCGA-B5-A0JY-01 COSM1006962 c.569T>C p.L190S Substitution - Missense 2:138559110-138559110 + PD4122a COSM164572 c.295C>T p.R99* Substitution - Nonsense 2:138550997-138550997 + TCGA-AP-A0LP-01 COSM1006963 c.679G>A p.A227T Substitution - Missense 2:138559302-138559302 + TCGA-60-2708-01 COSM716668 c.1155A>T p.P385P Substitution - coding silent 2:138569056-138569056 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.333285;Hs.333288;Hs.333297 2q22.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - 3-UTRDeletion . c.1176+2601delT 2 139329248 HC A C 3-UTRSNV . c.1176+3336A>C 2 139329983 DLBCL A C Missense p.K28N c.84A>C 2 139308058 COREAD A C Missense p.Q320H c.960A>C 2 139322400 UCEC A C Synonymous p.I170I c.510A>C 2 139316621 HNSC A G 3-UTRSNV . c.1176+4238A>G 2 139330885 HC A T Missense p.K115N c.345A>T 2 139308617 CM A T Synonymous p.L374L c.1122A>T 2 139326593 CM A T Synonymous p.P385P c.1155A>T 2 139326626 LUSC A T Synonymous p.P385P c.1155A>T 2 139326626 NSCLC C A Missense p.L106I c.316C>A 2 139308588 STAD C A Missense p.P182T c.544C>A 2 139316655 ESCA C G Missense p.R185G c.553C>G 2 139316664 LUSC C T 5-UTRSNV . c.1-25C>T 2 139307762 CM C T IntronicSNV . c.201-78C>T 2 139308395 NSCLC C T Missense p.S2F c.5C>T 2 139307791 CM C T Missense p.S58L c.173C>T 2 139308147 CM C T Missense p.S85F c.254C>T 2 139308526 CM C T Nonsense p.R124* c.370C>T 2 139310141 UCEC C T Nonsense p.R45* c.133C>T 2 139308107 CM C T Nonsense p.R99* c.295C>T 2 139308567 BRCA C T Synonymous p.F102F c.306C>T 2 139308578 BLCA G A IntronicSNV . c.480+1783G>A 2 139312034 HC G A Missense p.D304N c.910G>A 2 139322350 LUAD G A Missense p.E300K c.898G>A 2 139322338 UCEC G A Missense p.G355R c.1063G>A 2 139326534 ESCA G A Missense p.R386H c.1157G>A 2 139326628 STAD G A Missense p.V168I c.502G>A 2 139316613 LUSC G A Synonymous p.L179L c.537G>A 2 139316648 HC G A Synonymous p.R70R c.210G>A 2 139308482 LGG G C Missense p.G172A c.515G>C 2 139316626 LUAD G C Missense p.R99P c.296G>C 2 139308568 LUSC GG TT Missense p.G191F c.571_572delinsTT 2 139316682 HNSC G T Missense p.D130Y c.388G>T 2 139310159 LUSC G T Missense p.D201Y c.601G>T 2 139316712 BRCA G T Missense p.G355V c.1064G>T 2 139326535 CM G T Missense p.R185L c.554G>T 2 139316665 HNSC G T Missense p.W194L c.581G>T 2 139316692 CM G T Missense p.W342C c.1026G>T 2 139322555 LUAD G T Nonsense p.E160* c.478G>T 2 139310249 LUSC G T Synonymous p.G261G c.783G>T 2 139318443 MM T A 3-UTRSNV . c.1176+173T>A 2 139326820 MM T C IntronicSNV . c.838-21T>C 2 139322257 NSCLC T C Missense p.V206A c.617T>C 2 139316728 LUAD T C Synonymous p.P248P c.744T>C 2 139318404 PRAD T G IntronicSNV . c.1-11855T>G 2 139295932 CLL