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 5 118433708 118433708 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr5:118433708G>A c.122G>A c.(121-123)gGa>gAa p.G41E BLCA 5 118437645 118437645 + Frame_Shift_Del DEL G G - TCGA-E7-A97P-01A-11D-A38G-08 TCGA-E7-A97P-10A-01D-A38J-08 g.chr5:118437645delG c.229delG c.(229-231)ggafs p.G77fs BLCA 5 118440893 118440893 + Missense_Mutation SNP C C G TCGA-BT-A42F-01A-11D-A23U-08 TCGA-BT-A42F-10A-01D-A23U-08 g.chr5:118440893C>G c.304C>G c.(304-306)Cag>Gag p.Q102E BLCA 5 118440935 118440935 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr5:118440935A>G c.346A>G c.(346-348)Ata>Gta p.I116V BLCA 5 118469494 118469494 + Silent SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 g.chr5:118469494C>T c.1875C>T c.(1873-1875)ctC>ctT p.L625L BLCA 5 118482547 118482547 + Missense_Mutation SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr5:118482547G>T c.2585G>T c.(2584-2586)gGa>gTa p.G862V BLCA 5 118483001 118483001 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr5:118483001C>G c.2747C>G c.(2746-2748)tCt>tGt p.S916C BLCA 5 118484845 118484845 + Missense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr5:118484845C>A c.3323C>A c.(3322-3324)tCt>tAt p.S1108Y BLCA 5 118484889 118484889 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr5:118484889G>C c.3367G>C c.(3367-3369)Gac>Cac p.D1123H BLCA 5 118484935 118484935 + Missense_Mutation SNP A A G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 g.chr5:118484935A>G c.3413A>G c.(3412-3414)cAt>cGt p.H1138R BLCA 5 118485222 118485222 + Missense_Mutation SNP G G A TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr5:118485222G>A c.3700G>A c.(3700-3702)Gaa>Aaa p.E1234K BLCA 5 118485340 118485340 + Missense_Mutation SNP C C T TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 g.chr5:118485340C>T c.3818C>T c.(3817-3819)tCt>tTt p.S1273F BLCA 5 118485427 118485427 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 g.chr5:118485427C>A c.3905C>A c.(3904-3906)cCt>cAt p.P1302H BLCA 5 118487671 118487671 + Nonsense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr5:118487671C>T c.4642C>T c.(4642-4644)Cga>Tga p.R1548* BLCA 5 118500301 118500301 + Missense_Mutation SNP C C G TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 g.chr5:118500301C>G c.4802C>G c.(4801-4803)tCt>tGt p.S1601C BLCA 5 118500366 118500366 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr5:118500366G>C c.4867G>C c.(4867-4869)Gaa>Caa p.E1623Q BLCA 5 118502418 118502418 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr5:118502418G>C c.5078G>C c.(5077-5079)aGa>aCa p.R1693T BLCA 5 118503486 118503486 + Missense_Mutation SNP G G C TCGA-GU-AATP-01A-11D-A391-08 TCGA-GU-AATP-10A-01D-A394-08 g.chr5:118503486G>C c.5325G>C c.(5323-5325)atG>atC p.M1775I BLCA 5 118503550 118503550 + Missense_Mutation SNP G G C TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 g.chr5:118503550G>C c.5389G>C c.(5389-5391)Gag>Cag p.E1797Q BLCA 5 118505897 118505897 + Nonsense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr5:118505897C>G c.5411C>G c.(5410-5412)tCa>tGa p.S1804* BLCA 5 118506141 118506141 + Silent SNP C C T TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr5:118506141C>T c.5655C>T c.(5653-5655)atC>atT p.I1885I BLCA 5 118506822 118506822 + Silent SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 g.chr5:118506822G>A c.6336G>A c.(6334-6336)ctG>ctA p.L2112L BLCA 5 118507480 118507480 + Nonsense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 g.chr5:118507480C>G c.6497C>G c.(6496-6498)tCa>tGa p.S2166* BLCA 5 118533494 118533494 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr5:118533494C>T c.7588C>T c.(7588-7590)Ctt>Ttt p.L2530F BLCA 5 118533569 118533569 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr5:118533569C>T c.7663C>T c.(7663-7665)Cat>Tat p.H2555Y BLCA 5 118539081 118539081 + Nonsense_Mutation SNP C C T TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr5:118539081C>T c.7813C>T c.(7813-7815)Cag>Tag p.Q2605* BLCA 5 118569088 118569088 + Nonsense_Mutation SNP C C T TCGA-E7-A6MF-01A-12D-A32B-08 TCGA-E7-A6MF-10B-01D-A329-08 g.chr5:118569088C>T c.8329C>T c.(8329-8331)Caa>Taa p.Q2777* BLCA 5 118580221 118580221 + Missense_Mutation SNP G G A TCGA-BT-A2LA-01A-11D-A18F-08 TCGA-BT-A2LA-11A-11D-A18F-08 g.chr5:118580221G>A c.8809G>A c.(8809-8811)Gat>Aat p.D2937N BLCA 5 118582714 118582714 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 g.chr5:118582714C>G c.8884C>G c.(8884-8886)Ctt>Gtt p.L2962V BLCA 5 118582839 118582839 + Missense_Mutation SNP G G A TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr5:118582839G>A c.9009G>A c.(9007-9009)atG>atA p.M3003I BRCA 5 118454657 118454657 + Missense_Mutation SNP G G C TCGA-BH-A0W7-01A-11D-A10Y-09 TCGA-BH-A0W7-10A-01D-A110-09 g.chr5:118454657G>C c.891G>C c.(889-891)aaG>aaC p.K297N BRCA 5 118464937 118464937 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr5:118464937G>A c.1134G>A c.(1132-1134)ctG>ctA p.L378L BRCA 5 118465026 118465026 + Frame_Shift_Del DEL T T - TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr5:118465026delT c.1223delT c.(1222-1224)gttfs p.V408fs BRCA 5 118468832 118468832 + Missense_Mutation SNP G G A TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 g.chr5:118468832G>A c.1321G>A c.(1321-1323)Gat>Aat p.D441N BRCA 5 118479553 118479553 + Silent SNP C C G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr5:118479553C>G c.2394C>G c.(2392-2394)gtC>gtG p.V798V BRCA 5 118480270 118480270 + Missense_Mutation SNP G G A TCGA-E2-A15L-01A-11D-A12B-09 TCGA-E2-A15L-11A-31D-A12B-09 g.chr5:118480270G>A c.2506G>A c.(2506-2508)Gac>Aac p.D836N BRCA 5 118482538 118482538 + Nonsense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 g.chr5:118482538C>G c.2576C>G c.(2575-2577)tCa>tGa p.S859* BRCA 5 118484655 118484655 + Missense_Mutation SNP A A G TCGA-AO-A12E-01A-11D-A10M-09 TCGA-AO-A12E-10A-01D-A10M-09 g.chr5:118484655A>G c.3133A>G c.(3133-3135)Agg>Ggg p.R1045G BRCA 5 118485161 118485161 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr5:118485161A>C c.3639A>C c.(3637-3639)ccA>ccC p.P1213P BRCA 5 118485468 118485468 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr5:118485468C>T c.3946C>T c.(3946-3948)Cat>Tat p.H1316Y BRCA 5 118487625 118487625 + Splice_Site SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr5:118487625T>G c.4596T>G c.(4594-4596)ggT>ggG p.G1532G BRCA 5 118500331 118500331 + Nonsense_Mutation SNP G G A TCGA-E9-A1RH-01A-21D-A167-09 TCGA-E9-A1RH-10A-01D-A167-09 g.chr5:118500331G>A c.4832G>A c.(4831-4833)tGg>tAg p.W1611* BRCA 5 118502316 118502316 + Frame_Shift_Del DEL A A - TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr5:118502316delA c.4976delA c.(4975-4977)gaafs p.E1659fs BRCA 5 118506932 118506932 + Missense_Mutation SNP C C A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr5:118506932C>A c.6446C>A c.(6445-6447)tCt>tAt p.S2149Y BRCA 5 118513861 118513861 + Nonsense_Mutation SNP G G T TCGA-AC-A3QP-01A-11D-A22X-09 TCGA-AC-A3QP-10B-01D-A22X-09 g.chr5:118513861G>T c.7057G>T c.(7057-7059)Gag>Tag p.E2353* BRCA 5 118525430 118525430 + Missense_Mutation SNP A A G TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 g.chr5:118525430A>G c.7163A>G c.(7162-7164)aAa>aGa p.K2388R BRCA 5 118529541 118529541 + Missense_Mutation SNP C C G TCGA-AC-A5XS-01A-11D-A29N-09 TCGA-AC-A5XS-11A-13D-A29N-09 g.chr5:118529541C>G c.7333C>G c.(7333-7335)Caa>Gaa p.Q2445E BRCA 5 118569138 118569138 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 g.chr5:118569138G>C c.8379G>C c.(8377-8379)atG>atC p.M2793I BRCA 5 118573104 118573104 + Missense_Mutation SNP T T C TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 g.chr5:118573104T>C c.8491T>C c.(8491-8493)Tac>Cac p.Y2831H BRCA 5 118582789 118582789 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr5:118582789G>C c.8959G>C c.(8959-8961)Gag>Cag p.E2987Q CESC 5 118433713 118433713 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr5:118433713G>A c.127G>A c.(127-129)Gat>Aat p.D43N CESC 5 118483070 118483070 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 g.chr5:118483070G>T c.2816G>T c.(2815-2817)aGt>aTt p.S939I CESC 5 118506868 118506868 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr5:118506868T>C c.6382T>C c.(6382-6384)Tca>Cca p.S2128P CESC 5 118560455 118560455 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 g.chr5:118560455C>G c.8266C>G c.(8266-8268)Ctt>Gtt p.L2756V CHOL 5 118485955 118485955 + Missense_Mutation SNP C C A TCGA-W5-AA2T-01A-12D-A417-09 TCGA-W5-AA2T-10A-01D-A41A-09 g.chr5:118485955C>A c.4433C>A c.(4432-4434)cCg>cAg p.P1478Q CHOL 5 118486011 118486011 + Missense_Mutation SNP A A C TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr5:118486011A>C c.4489A>C c.(4489-4491)Agt>Cgt p.S1497R CHOL 5 118580098 118580098 + Missense_Mutation SNP C C A TCGA-3X-AAVB-01A-31D-A417-09 TCGA-3X-AAVB-10A-01D-A41A-09 g.chr5:118580098C>A c.8686C>A c.(8686-8688)Cca>Aca p.P2896T COAD 5 118433745 118433745 + Silent SNP T T G TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr5:118433745T>G c.159T>G c.(157-159)gcT>gcG p.A53A COAD 5 118445871 118445871 + Missense_Mutation SNP C C G TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr5:118445871C>G c.390C>G c.(388-390)agC>agG p.S130R COAD 5 118445894 118445894 + Missense_Mutation SNP C C T TCGA-A6-3807-01A-01W-0995-10 TCGA-A6-3807-11A-01W-0995-10 g.chr5:118445894C>T c.413C>T c.(412-414)aCt>aTt p.T138I COAD 5 118454522 118454522 + Silent SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:118454522T>C c.756T>C c.(754-756)tgT>tgC p.C252C COAD 5 118465111 118465112 + Missense_Mutation DNP TG TG CT TCGA-D5-6529-01A-11D-1771-10 TCGA-D5-6529-10A-01D-1771-10 g.chr5:118465111_118465112TG>CT c.1308_1309TG>CT c.(1306-1311)tcTGat>tcCTat p.D437Y COAD 5 118469319 118469319 + Missense_Mutation SNP C C A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr5:118469319C>A c.1700C>A c.(1699-1701)tCt>tAt p.S567Y COAD 5 118469726 118469726 + Missense_Mutation SNP A A G TCGA-AA-3666-01A-02W-0900-09 TCGA-AA-3666-10A-01W-0900-09 g.chr5:118469726A>G c.2107A>G c.(2107-2109)Agt>Ggt p.S703G COAD 5 118469797 118469797 + Silent SNP C C T TCGA-AA-3976-01A-01W-0995-10 TCGA-AA-3976-10A-01W-0999-10 g.chr5:118469797C>T c.2178C>T c.(2176-2178)gcC>gcT p.A726A COAD 5 118469808 118469808 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:118469808C>A c.2189C>A c.(2188-2190)tCt>tAt p.S730Y COAD 5 118470078 118470078 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:118470078A>C c.2370A>C c.(2368-2370)gaA>gaC p.E790D COAD 5 118485112 118485112 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:118485112T>G c.3590T>G c.(3589-3591)tTt>tGt p.F1197C COAD 5 118485123 118485123 + Nonsense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:118485123C>T c.3601C>T c.(3601-3603)Cga>Tga p.R1201* COAD 5 118485181 118485181 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:118485181C>T c.3659C>T c.(3658-3660)tCg>tTg p.S1220L COAD 5 118485540 118485540 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:118485540C>T c.4018C>T c.(4018-4020)Cgg>Tgg p.R1340W COAD 5 118485646 118485646 + Missense_Mutation SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr5:118485646C>T c.4124C>T c.(4123-4125)aCa>aTa p.T1375I COAD 5 118485664 118485664 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:118485664G>A c.4142G>A c.(4141-4143)aGc>aAc p.S1381N COAD 5 118485814 118485814 + Missense_Mutation SNP C C T TCGA-AA-A01V-01A-23W-A096-10 TCGA-AA-A01V-11A-11W-A096-10 g.chr5:118485814C>T c.4292C>T c.(4291-4293)aCg>aTg p.T1431M COAD 5 118487659 118487659 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr5:118487659C>A c.4630C>A c.(4630-4632)Ctt>Att p.L1544I COAD 5 118502316 118502316 + Frame_Shift_Del DEL A A - TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr5:118502316delA c.4976delA c.(4975-4977)gaafs p.E1659fs COAD 5 118502339 118502339 + Frame_Shift_Del DEL T T - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr5:118502339delT c.4999delT c.(4999-5001)tttfs p.F1668fs COAD 5 118502354 118502354 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:118502354T>G c.5014T>G c.(5014-5016)Ttt>Gtt p.F1672V COAD 5 118502400 118502400 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr5:118502400C>A c.5060C>A c.(5059-5061)tCt>tAt p.S1687Y COAD 5 118506749 118506749 + Missense_Mutation SNP G G T TCGA-AA-3973-01A-01W-0995-10 TCGA-AA-3973-10A-01W-0999-10 g.chr5:118506749G>T c.6263G>T c.(6262-6264)gGc>gTc p.G2088V COAD 5 118506830 118506830 + Missense_Mutation SNP A A T TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr5:118506830A>T c.6344A>T c.(6343-6345)aAt>aTt p.N2115I COAD 5 118513159 118513159 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr5:118513159C>T c.6866C>T c.(6865-6867)aCg>aTg p.T2289M COAD 5 118513711 118513711 + Missense_Mutation SNP C C T TCGA-AD-6901-01A-11D-1924-10 TCGA-AD-6901-10A-01D-1924-10 g.chr5:118513711C>T c.6907C>T c.(6907-6909)Ctt>Ttt p.L2303F COAD 5 118532070 118532070 + Missense_Mutation SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:118532070T>G c.7462T>G c.(7462-7464)Tcc>Gcc p.S2488A COAD 5 118532086 118532086 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr5:118532086C>T c.7478C>T c.(7477-7479)gCg>gTg p.A2493V COAD 5 118533608 118533608 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr5:118533608C>A c.7702C>A c.(7702-7704)Ctt>Att p.L2568I COAD 5 118574737 118574737 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr5:118574737C>T c.8550C>T c.(8548-8550)tcC>tcT p.S2850S COAD 5 118576151 118576151 + Missense_Mutation SNP A A G TCGA-D5-6529-01A-11D-1771-10 TCGA-D5-6529-10A-01D-1771-10 g.chr5:118576151A>G c.8626A>G c.(8626-8628)Aat>Gat p.N2876D COAD 5 118576151 118576151 + Missense_Mutation SNP A A T TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr5:118576151A>T c.8626A>T c.(8626-8628)Aat>Tat p.N2876Y COADREAD 5 118433743 118433743 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr5:118433743G>A c.157G>A c.(157-159)Gct>Act p.A53T COADREAD 5 118433745 118433745 + Silent SNP T T G TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr5:118433745T>G c.159T>G c.(157-159)gcT>gcG p.A53A COADREAD 5 118445871 118445871 + Missense_Mutation SNP C C G TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr5:118445871C>G c.390C>G c.(388-390)agC>agG p.S130R COADREAD 5 118445894 118445894 + Missense_Mutation SNP C C T TCGA-A6-3807-01A-01W-0995-10 TCGA-A6-3807-11A-01W-0995-10 g.chr5:118445894C>T c.413C>T c.(412-414)aCt>aTt p.T138I COADREAD 5 118454522 118454522 + Silent SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:118454522T>C c.756T>C c.(754-756)tgT>tgC p.C252C COADREAD 5 118465111 118465112 + Missense_Mutation DNP TG TG CT TCGA-D5-6529-01A-11D-1771-10 TCGA-D5-6529-10A-01D-1771-10 g.chr5:118465111_118465112TG>CT c.1308_1309TG>CT c.(1306-1311)tcTGat>tcCTat p.D437Y COADREAD 5 118468902 118468902 + Missense_Mutation SNP A A C TCGA-AG-3878-01A-02W-0899-10 TCGA-AG-3878-10A-01W-0901-10 g.chr5:118468902A>C c.1391A>C c.(1390-1392)aAc>aCc p.N464T COADREAD 5 118469205 118469205 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:118469205G>T c.1586G>T c.(1585-1587)aGa>aTa p.R529I COADREAD 5 118469319 118469319 + Missense_Mutation SNP C C A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr5:118469319C>A c.1700C>A c.(1699-1701)tCt>tAt p.S567Y COADREAD 5 118469391 118469391 + Missense_Mutation SNP G G A TCGA-CI-6619-01B-11D-1826-10 TCGA-CI-6619-10A-01D-1826-10 g.chr5:118469391G>A c.1772G>A c.(1771-1773)aGt>aAt p.S591N COADREAD 5 118469657 118469657 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:118469657G>T c.2038G>T c.(2038-2040)Gaa>Taa p.E680* COADREAD 5 118469726 118469726 + Missense_Mutation SNP A A G TCGA-AA-3666-01A-02W-0900-09 TCGA-AA-3666-10A-01W-0900-09 g.chr5:118469726A>G c.2107A>G c.(2107-2109)Agt>Ggt p.S703G COADREAD 5 118469797 118469797 + Silent SNP C C T TCGA-AA-3976-01A-01W-0995-10 TCGA-AA-3976-10A-01W-0999-10 g.chr5:118469797C>T c.2178C>T c.(2176-2178)gcC>gcT p.A726A COADREAD 5 118469808 118469808 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:118469808C>A c.2189C>A c.(2188-2190)tCt>tAt p.S730Y COADREAD 5 118470078 118470078 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:118470078A>C c.2370A>C c.(2368-2370)gaA>gaC p.E790D COADREAD 5 118483022 118483022 + Missense_Mutation SNP T T A TCGA-AG-3593-01A-01W-0831-10 TCGA-AG-3593-10A-01W-0831-10 g.chr5:118483022T>A c.2768T>A c.(2767-2769)cTa>cAa p.L923Q COADREAD 5 118485112 118485112 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:118485112T>G c.3590T>G c.(3589-3591)tTt>tGt p.F1197C COADREAD 5 118485123 118485123 + Nonsense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:118485123C>T c.3601C>T c.(3601-3603)Cga>Tga p.R1201* COADREAD 5 118485175 118485175 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:118485175C>A c.3653C>A c.(3652-3654)tCt>tAt p.S1218Y COADREAD 5 118485181 118485181 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:118485181C>T c.3659C>T c.(3658-3660)tCg>tTg p.S1220L COADREAD 5 118485283 118485283 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:118485283C>T c.3761C>T c.(3760-3762)tCg>tTg p.S1254L COADREAD 5 118485540 118485540 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:118485540C>T c.4018C>T c.(4018-4020)Cgg>Tgg p.R1340W COADREAD 5 118485646 118485646 + Missense_Mutation SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr5:118485646C>T c.4124C>T c.(4123-4125)aCa>aTa p.T1375I COADREAD 5 118485664 118485664 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:118485664G>A c.4142G>A c.(4141-4143)aGc>aAc p.S1381N COADREAD 5 118485814 118485814 + Missense_Mutation SNP C C T TCGA-AA-A01V-01A-23W-A096-10 TCGA-AA-A01V-11A-11W-A096-10 g.chr5:118485814C>T c.4292C>T c.(4291-4293)aCg>aTg p.T1431M COADREAD 5 118487659 118487659 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr5:118487659C>A c.4630C>A c.(4630-4632)Ctt>Att p.L1544I COADREAD 5 118502316 118502316 + Frame_Shift_Del DEL A A - TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr5:118502316delA c.4976delA c.(4975-4977)gaafs p.E1659fs COADREAD 5 118502339 118502339 + Frame_Shift_Del DEL T T - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr5:118502339delT c.4999delT c.(4999-5001)tttfs p.F1668fs COADREAD 5 118502354 118502354 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:118502354T>G c.5014T>G c.(5014-5016)Ttt>Gtt p.F1672V COADREAD 5 118502400 118502400 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr5:118502400C>A c.5060C>A c.(5059-5061)tCt>tAt p.S1687Y COADREAD 5 118506692 118506692 + Missense_Mutation SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr5:118506692C>T c.6206C>T c.(6205-6207)gCt>gTt p.A2069V COADREAD 5 118506749 118506749 + Missense_Mutation SNP G G T TCGA-AA-3973-01A-01W-0995-10 TCGA-AA-3973-10A-01W-0999-10 g.chr5:118506749G>T c.6263G>T c.(6262-6264)gGc>gTc p.G2088V COADREAD 5 118506830 118506830 + Missense_Mutation SNP A A T TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr5:118506830A>T c.6344A>T c.(6343-6345)aAt>aTt p.N2115I COADREAD 5 118513159 118513159 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr5:118513159C>T c.6866C>T c.(6865-6867)aCg>aTg p.T2289M COADREAD 5 118513711 118513711 + Missense_Mutation SNP C C T TCGA-AD-6901-01A-11D-1924-10 TCGA-AD-6901-10A-01D-1924-10 g.chr5:118513711C>T c.6907C>T c.(6907-6909)Ctt>Ttt p.L2303F COADREAD 5 118532070 118532070 + Missense_Mutation SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:118532070T>G c.7462T>G c.(7462-7464)Tcc>Gcc p.S2488A COADREAD 5 118532086 118532086 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr5:118532086C>T c.7478C>T c.(7477-7479)gCg>gTg p.A2493V COADREAD 5 118533608 118533608 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr5:118533608C>A c.7702C>A c.(7702-7704)Ctt>Att p.L2568I COADREAD 5 118574737 118574737 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr5:118574737C>T c.8550C>T c.(8548-8550)tcC>tcT p.S2850S COADREAD 5 118576151 118576151 + Missense_Mutation SNP A A G TCGA-D5-6529-01A-11D-1771-10 TCGA-D5-6529-10A-01D-1771-10 g.chr5:118576151A>G c.8626A>G c.(8626-8628)Aat>Gat p.N2876D COADREAD 5 118576151 118576151 + Missense_Mutation SNP A A T TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr5:118576151A>T c.8626A>T c.(8626-8628)Aat>Tat p.N2876Y DLBC 5 118454599 118454599 + Missense_Mutation SNP T T C TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr5:118454599T>C c.833T>C c.(832-834)cTa>cCa p.L278P DLBC 5 118529595 118529597 + In_Frame_Del DEL AAT AAT - TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr5:118529595_118529597delAAT c.7387_7389delAAT c.(7387-7389)aatdel p.N2463del ESCA 5 118454598 118454598 + Silent SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 g.chr5:118454598C>T c.832C>T c.(832-834)Cta>Tta p.L278L ESCA 5 118469070 118469070 + Missense_Mutation SNP G G A TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 g.chr5:118469070G>A c.1559G>A c.(1558-1560)cGt>cAt p.R520H ESCA 5 118482976 118482976 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 g.chr5:118482976G>A c.2722G>A c.(2722-2724)Gtt>Att p.V908I ESCA 5 118484613 118484613 + Nonsense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 g.chr5:118484613G>T c.3091G>T c.(3091-3093)Gaa>Taa p.E1031* ESCA 5 118485616 118485616 + Missense_Mutation SNP C C G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 g.chr5:118485616C>G c.4094C>G c.(4093-4095)tCt>tGt p.S1365C ESCA 5 118506235 118506235 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 g.chr5:118506235G>T c.5749G>T c.(5749-5751)Gat>Tat p.D1917Y ESCA 5 118506593 118506595 + In_Frame_Del DEL TTC TTC - TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 g.chr5:118506593_118506595delTTC c.6107_6109delTTC c.(6106-6111)attctc>atc p.L2037del ESCA 5 118556217 118556217 + Silent SNP G G C TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 g.chr5:118556217G>C c.8001G>C c.(7999-8001)ctG>ctC p.L2667L ESCA 5 118576136 118576136 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 g.chr5:118576136C>T c.8611C>T c.(8611-8613)Ctt>Ttt p.L2871F GBM 5 118503534 118503534 + Missense_Mutation SNP A A G TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 g.chr5:118503534A>G c.5373A>G c.(5371-5373)atA>atG p.I1791M GBMLGG 5 118479596 118479598 + In_Frame_Del DEL ATT ATT - TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 g.chr5:118479596_118479598delATT c.2437_2439delATT c.(2437-2439)attdel p.I814del GBMLGG 5 118484571 118484571 + Missense_Mutation SNP A A G TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 g.chr5:118484571A>G c.3049A>G c.(3049-3051)Att>Gtt p.I1017V GBMLGG 5 118484689 118484689 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:118484689G>A c.3167G>A c.(3166-3168)cGt>cAt p.R1056H GBMLGG 5 118484954 118484954 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:118484954G>A c.3432G>A c.(3430-3432)tgG>tgA p.W1144* GBMLGG 5 118485663 118485663 + Missense_Mutation SNP A A T TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 g.chr5:118485663A>T c.4141A>T c.(4141-4143)Agc>Tgc p.S1381C GBMLGG 5 118500881 118500881 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:118500881G>T c.4876G>T c.(4876-4878)Gct>Tct p.A1626S GBMLGG 5 118500926 118500927 + Frame_Shift_Ins INS - - T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:118500926_118500927insT c.4921_4922insT c.(4921-4923)attfs p.I1641fs GBMLGG 5 118500956 118500956 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:118500956G>A c.4951G>A c.(4951-4953)Gtg>Atg p.V1651M GBMLGG 5 118502316 118502316 + Frame_Shift_Del DEL A A - TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:118502316delA c.4976delA c.(4975-4977)gaafs p.E1659fs GBMLGG 5 118503347 118503347 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:118503347G>A c.5186G>A c.(5185-5187)aGa>aAa p.R1729K GBMLGG 5 118503398 118503398 + Missense_Mutation SNP G G T TCGA-VM-A8C8-01A-11D-A36O-08 TCGA-VM-A8C8-10A-01D-A367-08 g.chr5:118503398G>T c.5237G>T c.(5236-5238)cGt>cTt p.R1746L GBMLGG 5 118503534 118503534 + Missense_Mutation SNP A A G TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 g.chr5:118503534A>G c.5373A>G c.(5371-5373)atA>atG p.I1791M GBMLGG 5 118506838 118506839 + Frame_Shift_Ins INS - - A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:118506838_118506839insA c.6352_6353insA c.(6352-6354)gaafs p.E2118fs GBMLGG 5 118556191 118556191 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:118556191G>A c.7975G>A c.(7975-7977)Gct>Act p.A2659T GBMLGG 5 118556656 118556656 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:118556656A>G c.8094A>G c.(8092-8094)atA>atG p.I2698M HNSC 5 118433712 118433712 + Silent SNP C C T TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 g.chr5:118433712C>T c.126C>T c.(124-126)agC>agT p.S42S HNSC 5 118445852 118445852 + Missense_Mutation SNP G G A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 g.chr5:118445852G>A c.371G>A c.(370-372)cGt>cAt p.R124H HNSC 5 118451886 118451886 + Missense_Mutation SNP G G C TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr5:118451886G>C c.598G>C c.(598-600)Gaa>Caa p.E200Q HNSC 5 118454614 118454614 + Missense_Mutation SNP G G A TCGA-MT-A67A-01A-11D-A30E-08 TCGA-MT-A67A-10A-01D-A30H-08 g.chr5:118454614G>A c.848G>A c.(847-849)tGc>tAc p.C283Y HNSC 5 118469789 118469789 + Missense_Mutation SNP G G C TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr5:118469789G>C c.2170G>C c.(2170-2172)Gag>Cag p.E724Q HNSC 5 118469800 118469800 + Silent SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 g.chr5:118469800G>A c.2181G>A c.(2179-2181)cgG>cgA p.R727R HNSC 5 118485227 118485227 + Missense_Mutation SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 g.chr5:118485227G>C c.3705G>C c.(3703-3705)atG>atC p.M1235I HNSC 5 118500343 118500343 + Missense_Mutation SNP C C T TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 g.chr5:118500343C>T c.4844C>T c.(4843-4845)aCc>aTc p.T1615I HNSC 5 118510990 118510990 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr5:118510990C>T c.6716C>T c.(6715-6717)tCt>tTt p.S2239F HNSC 5 118529659 118529659 + Nonsense_Mutation SNP C C A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 g.chr5:118529659C>A c.7451C>A c.(7450-7452)tCa>tAa p.S2484* HNSC 5 118533530 118533530 + Missense_Mutation SNP G G A TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 g.chr5:118533530G>A c.7624G>A c.(7624-7626)Gaa>Aaa p.E2542K HNSC 5 118576160 118576160 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 g.chr5:118576160G>C c.8635G>C c.(8635-8637)Gtc>Ctc p.V2879L KICH 5 118500256 118500256 + Missense_Mutation SNP T T C TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr5:118500256T>C c.4757T>C c.(4756-4758)cTg>cCg p.L1586P KICH 5 118505983 118505983 + Missense_Mutation SNP A A G TCGA-KN-8430-01A-11D-2310-10 TCGA-KN-8430-11A-01D-2311-10 g.chr5:118505983A>G c.5497A>G c.(5497-5499)Aca>Gca p.T1833A KICH 5 118525451 118525451 + Missense_Mutation SNP C C T TCGA-KN-8431-01A-11D-2310-10 TCGA-KN-8431-11A-01D-2311-10 g.chr5:118525451C>T c.7184C>T c.(7183-7185)cCg>cTg p.P2395L KIPAN 5 118451949 118451949 + Missense_Mutation SNP A A T TCGA-A4-A57E-01A-11D-A26P-10 TCGA-A4-A57E-10A-01D-A26P-10 g.chr5:118451949A>T c.661A>T c.(661-663)Att>Ttt p.I221F KIPAN 5 118479556 118479556 + Silent SNP T T C TCGA-IZ-A6M8-01A-11D-A31X-10 TCGA-IZ-A6M8-10A-01D-A31X-10 g.chr5:118479556T>C c.2397T>C c.(2395-2397)ttT>ttC p.F799F KIPAN 5 118480323 118480323 + Silent SNP A A G TCGA-2Z-A9JT-01A-11D-A42J-10 TCGA-2Z-A9JT-10A-01D-A42M-10 g.chr5:118480323A>G c.2559A>G c.(2557-2559)ttA>ttG p.L853L KIPAN 5 118484562 118484562 + Missense_Mutation SNP A A G TCGA-CJ-4907-01A-01D-1429-08 TCGA-CJ-4907-11A-01D-1429-08 g.chr5:118484562A>G c.3040A>G c.(3040-3042)Aat>Gat p.N1014D KIPAN 5 118484771 118484771 + Silent SNP T T C TCGA-Y8-A898-01A-11D-A34Z-10 TCGA-Y8-A898-10A-01D-A34Z-10 g.chr5:118484771T>C c.3249T>C c.(3247-3249)tgT>tgC p.C1083C KIPAN 5 118500212 118500213 + Frame_Shift_Ins INS - - AGTCATTT TCGA-IZ-8195-01A-31D-2396-08 TCGA-IZ-8195-10A-01D-2396-08 g.chr5:118500212_118500213insAGTCATTT c.4713_4714insAGTCATTT c.(4714-4716)agtfs p.-1572fs KIPAN 5 118500256 118500256 + Missense_Mutation SNP T T C TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr5:118500256T>C c.4757T>C c.(4756-4758)cTg>cCg p.L1586P KIPAN 5 118502399 118502399 + Missense_Mutation SNP T T G TCGA-CJ-5676-01A-11D-1534-10 TCGA-CJ-5676-11A-01D-1534-10 g.chr5:118502399T>G c.5059T>G c.(5059-5061)Tct>Gct p.S1687A KIPAN 5 118502425 118502425 + Silent SNP A A G TCGA-CZ-4863-01A-01D-1501-10 TCGA-CZ-4863-11A-01D-1501-10 g.chr5:118502425A>G c.5085A>G c.(5083-5085)gaA>gaG p.E1695E KIPAN 5 118505983 118505983 + Missense_Mutation SNP A A G TCGA-KN-8430-01A-11D-2310-10 TCGA-KN-8430-11A-01D-2311-10 g.chr5:118505983A>G c.5497A>G c.(5497-5499)Aca>Gca p.T1833A KIPAN 5 118506224 118506224 + Missense_Mutation SNP A A T TCGA-BP-4159-01A-02D-1366-10 TCGA-BP-4159-11A-01D-1366-10 g.chr5:118506224A>T c.5738A>T c.(5737-5739)gAt>gTt p.D1913V KIPAN 5 118525451 118525451 + Missense_Mutation SNP C C T TCGA-KN-8431-01A-11D-2310-10 TCGA-KN-8431-11A-01D-2311-10 g.chr5:118525451C>T c.7184C>T c.(7183-7185)cCg>cTg p.P2395L KIPAN 5 118556763 118556765 + In_Frame_Del DEL GAG GAG - TCGA-P4-A5E8-01A-11D-A28G-10 TCGA-P4-A5E8-11A-12D-A28G-10 g.chr5:118556763_118556765delGAG c.8201_8203delGAG c.(8200-8205)agagga>aga p.G2735del KIPAN 5 118560454 118560454 + Silent SNP T T C TCGA-CW-5580-01A-01D-1669-08 TCGA-CW-5580-11A-02D-1669-08 g.chr5:118560454T>C c.8265T>C c.(8263-8265)acT>acC p.T2755T KIPAN 5 118569034 118569034 + Splice_Site SNP G G T TCGA-B4-5843-01A-11D-1669-08 TCGA-B4-5843-10A-01D-1669-08 g.chr5:118569034G>T c.e38-1 KIPAN 5 118582763 118582763 + Missense_Mutation SNP A A C TCGA-4A-A93X-01A-11D-A36X-10 TCGA-4A-A93X-10A-01D-A370-10 g.chr5:118582763A>C c.8933A>C c.(8932-8934)aAt>aCt p.N2978T KIRC 5 118484562 118484562 + Missense_Mutation SNP A A G TCGA-CJ-4907-01A-01D-1429-08 TCGA-CJ-4907-11A-01D-1429-08 g.chr5:118484562A>G c.3040A>G c.(3040-3042)Aat>Gat p.N1014D KIRC 5 118502399 118502399 + Missense_Mutation SNP T T G TCGA-CJ-5676-01A-11D-1534-10 TCGA-CJ-5676-11A-01D-1534-10 g.chr5:118502399T>G c.5059T>G c.(5059-5061)Tct>Gct p.S1687A KIRC 5 118502425 118502425 + Silent SNP A A G TCGA-CZ-4863-01A-01D-1501-10 TCGA-CZ-4863-11A-01D-1501-10 g.chr5:118502425A>G c.5085A>G c.(5083-5085)gaA>gaG p.E1695E KIRC 5 118506224 118506224 + Missense_Mutation SNP A A T TCGA-BP-4159-01A-02D-1366-10 TCGA-BP-4159-11A-01D-1366-10 g.chr5:118506224A>T c.5738A>T c.(5737-5739)gAt>gTt p.D1913V KIRC 5 118560454 118560454 + Silent SNP T T C TCGA-CW-5580-01A-01D-1669-08 TCGA-CW-5580-11A-02D-1669-08 g.chr5:118560454T>C c.8265T>C c.(8263-8265)acT>acC p.T2755T KIRC 5 118569034 118569034 + Splice_Site SNP G G T TCGA-B4-5843-01A-11D-1669-08 TCGA-B4-5843-10A-01D-1669-08 g.chr5:118569034G>T c.e38-1 KIRP 5 118451949 118451949 + Missense_Mutation SNP A A T TCGA-A4-A57E-01A-11D-A26P-10 TCGA-A4-A57E-10A-01D-A26P-10 g.chr5:118451949A>T c.661A>T c.(661-663)Att>Ttt p.I221F KIRP 5 118479556 118479556 + Silent SNP T T C TCGA-IZ-A6M8-01A-11D-A31X-10 TCGA-IZ-A6M8-10A-01D-A31X-10 g.chr5:118479556T>C c.2397T>C c.(2395-2397)ttT>ttC p.F799F KIRP 5 118480323 118480323 + Silent SNP A A G TCGA-2Z-A9JT-01A-11D-A42J-10 TCGA-2Z-A9JT-10A-01D-A42M-10 g.chr5:118480323A>G c.2559A>G c.(2557-2559)ttA>ttG p.L853L KIRP 5 118484771 118484771 + Silent SNP T T C TCGA-Y8-A898-01A-11D-A34Z-10 TCGA-Y8-A898-10A-01D-A34Z-10 g.chr5:118484771T>C c.3249T>C c.(3247-3249)tgT>tgC p.C1083C KIRP 5 118500212 118500213 + Frame_Shift_Ins INS - - AGTCATTT TCGA-IZ-8195-01A-31D-2396-08 TCGA-IZ-8195-10A-01D-2396-08 g.chr5:118500212_118500213insAGTCATTT c.4713_4714insAGTCATTT c.(4714-4716)agtfs p.-1572fs KIRP 5 118556763 118556765 + In_Frame_Del DEL GAG GAG - TCGA-P4-A5E8-01A-11D-A28G-10 TCGA-P4-A5E8-11A-12D-A28G-10 g.chr5:118556763_118556765delGAG c.8201_8203delGAG c.(8200-8205)agagga>aga p.G2735del KIRP 5 118582763 118582763 + Missense_Mutation SNP A A C TCGA-4A-A93X-01A-11D-A36X-10 TCGA-4A-A93X-10A-01D-A370-10 g.chr5:118582763A>C c.8933A>C c.(8932-8934)aAt>aCt p.N2978T LGG 5 118479596 118479598 + In_Frame_Del DEL ATT ATT - TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 g.chr5:118479596_118479598delATT c.2437_2439delATT c.(2437-2439)attdel p.I814del LGG 5 118484571 118484571 + Missense_Mutation SNP A A G TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 g.chr5:118484571A>G c.3049A>G c.(3049-3051)Att>Gtt p.I1017V LGG 5 118484689 118484689 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:118484689G>A c.3167G>A c.(3166-3168)cGt>cAt p.R1056H LGG 5 118484954 118484954 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:118484954G>A c.3432G>A c.(3430-3432)tgG>tgA p.W1144* LGG 5 118485663 118485663 + Missense_Mutation SNP A A T TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 g.chr5:118485663A>T c.4141A>T c.(4141-4143)Agc>Tgc p.S1381C LGG 5 118500881 118500881 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:118500881G>T c.4876G>T c.(4876-4878)Gct>Tct p.A1626S LGG 5 118500926 118500927 + Frame_Shift_Ins INS - - T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:118500926_118500927insT c.4921_4922insT c.(4921-4923)attfs p.I1641fs LGG 5 118500956 118500956 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:118500956G>A c.4951G>A c.(4951-4953)Gtg>Atg p.V1651M LGG 5 118502316 118502316 + Frame_Shift_Del DEL A A - TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:118502316delA c.4976delA c.(4975-4977)gaafs p.E1659fs LGG 5 118503347 118503347 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:118503347G>A c.5186G>A c.(5185-5187)aGa>aAa p.R1729K LGG 5 118503398 118503398 + Missense_Mutation SNP G G T TCGA-VM-A8C8-01A-11D-A36O-08 TCGA-VM-A8C8-10A-01D-A367-08 g.chr5:118503398G>T c.5237G>T c.(5236-5238)cGt>cTt p.R1746L LGG 5 118506838 118506839 + Frame_Shift_Ins INS - - A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:118506838_118506839insA c.6352_6353insA c.(6352-6354)gaafs p.E2118fs LGG 5 118556191 118556191 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:118556191G>A c.7975G>A c.(7975-7977)Gct>Act p.A2659T LGG 5 118556656 118556656 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:118556656A>G c.8094A>G c.(8092-8094)atA>atG p.I2698M LIHC 5 118407346 118407346 + Missense_Mutation SNP T T G TCGA-G3-A7M5-01A-11D-A33Q-10 TCGA-G3-A7M5-10A-01D-A33Q-10 g.chr5:118407346T>G c.82T>G c.(82-84)Ttc>Gtc p.F28V LIHC 5 118450216 118450216 + Frame_Shift_Del DEL T T - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr5:118450216delT c.544delT c.(544-546)tttfs p.F183fs LIHC 5 118469314 118469314 + Silent SNP A A G TCGA-DD-A39Z-01A-11D-A20W-10 TCGA-DD-A39Z-11A-21D-A20W-10 g.chr5:118469314A>G c.1695A>G c.(1693-1695)aaA>aaG p.K565K LIHC 5 118469442 118469442 + Missense_Mutation SNP T T A TCGA-CC-5259-01A-31D-A20W-10 TCGA-CC-5259-10A-01D-A20W-10 g.chr5:118469442T>A c.1823T>A c.(1822-1824)cTg>cAg p.L608Q LIHC 5 118483090 118483090 + Frame_Shift_Del DEL T T - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr5:118483090delT c.2836delT c.(2836-2838)tttfs p.F946fs LIHC 5 118485268 118485268 + Missense_Mutation SNP C C T TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr5:118485268C>T c.3746C>T c.(3745-3747)cCt>cTt p.P1249L LIHC 5 118485268 118485268 + Missense_Mutation SNP C C T TCGA-G3-A25S-01A-11D-A16V-10 TCGA-G3-A25S-10A-01D-A16V-10 g.chr5:118485268C>T c.3746C>T c.(3745-3747)cCt>cTt p.P1249L LIHC 5 118485628 118485628 + Missense_Mutation SNP G G A TCGA-G3-AAV6-01A-21D-A36X-10 TCGA-G3-AAV6-10A-01D-A370-10 g.chr5:118485628G>A c.4106G>A c.(4105-4107)cGc>cAc p.R1369H LIHC 5 118513717 118513717 + Missense_Mutation SNP A A T TCGA-CC-A7IK-01A-12D-A33Q-10 TCGA-CC-A7IK-10A-01D-A33Q-10 g.chr5:118513717A>T c.6913A>T c.(6913-6915)Aat>Tat p.N2305Y LIHC 5 118560447 118560447 + Missense_Mutation SNP A A G TCGA-DD-AADB-01A-11D-A40R-10 TCGA-DD-AADB-10A-01D-A40U-10 g.chr5:118560447A>G c.8258A>G c.(8257-8259)cAt>cGt p.H2753R LIHC 5 118569090 118569090 + Silent SNP A A G TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr5:118569090A>G c.8331A>G c.(8329-8331)caA>caG p.Q2777Q LIHC 5 118576151 118576151 + Missense_Mutation SNP A A G TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr5:118576151A>G c.8626A>G c.(8626-8628)Aat>Gat p.N2876D LUAD 5 118440930 118440930 + Missense_Mutation SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 g.chr5:118440930A>G c.341A>G c.(340-342)cAc>cGc p.H114R LUAD 5 118451893 118451893 + Missense_Mutation SNP G G T TCGA-69-8254-01A-11D-2284-08 TCGA-69-8254-10A-01D-2284-08 g.chr5:118451893G>T c.605G>T c.(604-606)tGg>tTg p.W202L LUAD 5 118454634 118454634 + Missense_Mutation SNP A A G TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr5:118454634A>G c.868A>G c.(868-870)Att>Gtt p.I290V LUAD 5 118454691 118454691 + Missense_Mutation SNP G G A TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr5:118454691G>A c.925G>A c.(925-927)Gct>Act p.A309T LUAD 5 118468880 118468880 + Missense_Mutation SNP G G T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 g.chr5:118468880G>T c.1369G>T c.(1369-1371)Ggc>Tgc p.G457C LUAD 5 118468905 118468905 + Nonsense_Mutation SNP C C G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 g.chr5:118468905C>G c.1394C>G c.(1393-1395)tCa>tGa p.S465* LUAD 5 118469357 118469357 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 g.chr5:118469357G>T c.1738G>T c.(1738-1740)Ggt>Tgt p.G580C LUAD 5 118469421 118469421 + Missense_Mutation SNP C C T TCGA-50-5066-01A-01D-1625-08 TCGA-50-5066-10A-01D-1625-08 g.chr5:118469421C>T c.1802C>T c.(1801-1803)tCa>tTa p.S601L LUAD 5 118469618 118469618 + Missense_Mutation SNP G G A TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr5:118469618G>A c.1999G>A c.(1999-2001)Gat>Aat p.D667N LUAD 5 118469711 118469711 + Missense_Mutation SNP C C T TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr5:118469711C>T c.2092C>T c.(2092-2094)Ccc>Tcc p.P698S LUAD 5 118469760 118469760 + Missense_Mutation SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr5:118469760G>T c.2141G>T c.(2140-2142)gGg>gTg p.G714V LUAD 5 118482991 118482991 + Missense_Mutation SNP G G A TCGA-44-3919-01A-02D-1458-08 TCGA-44-3919-10A-01D-1458-08 g.chr5:118482991G>A c.2737G>A c.(2737-2739)Gaa>Aaa p.E913K LUAD 5 118483055 118483055 + Missense_Mutation SNP G G T TCGA-86-8673-01A-11D-2393-08 TCGA-86-8673-10A-01D-2393-08 g.chr5:118483055G>T c.2801G>T c.(2800-2802)aGa>aTa p.R934I LUAD 5 118484728 118484728 + Missense_Mutation SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 g.chr5:118484728G>T c.3206G>T c.(3205-3207)aGa>aTa p.R1069I LUAD 5 118484770 118484770 + Missense_Mutation SNP G G T TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr5:118484770G>T c.3248G>T c.(3247-3249)tGt>tTt p.C1083F LUAD 5 118485175 118485175 + Missense_Mutation SNP C C G TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 g.chr5:118485175C>G c.3653C>G c.(3652-3654)tCt>tGt p.S1218C LUAD 5 118485175 118485175 + Missense_Mutation SNP C C T TCGA-44-7667-01A-31D-2063-08 TCGA-44-7667-10A-01D-2063-08 g.chr5:118485175C>T c.3653C>T c.(3652-3654)tCt>tTt p.S1218F LUAD 5 118485508 118485508 + Missense_Mutation SNP A A C TCGA-97-A4M3-01A-11D-A24P-08 TCGA-97-A4M3-10A-01D-A24P-08 g.chr5:118485508A>C c.3986A>C c.(3985-3987)cAg>cCg p.Q1329P LUAD 5 118485650 118485650 + Silent SNP C C T TCGA-97-A4M0-01A-11D-A24P-08 TCGA-97-A4M0-10A-01D-A24P-08 g.chr5:118485650C>T c.4128C>T c.(4126-4128)atC>atT p.I1376I LUAD 5 118485675 118485675 + Missense_Mutation SNP G G T TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr5:118485675G>T c.4153G>T c.(4153-4155)Gac>Tac p.D1385Y LUAD 5 118485727 118485727 + Missense_Mutation SNP C C T TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr5:118485727C>T c.4205C>T c.(4204-4206)tCt>tTt p.S1402F LUAD 5 118485771 118485771 + Missense_Mutation SNP G G T TCGA-73-4668-01A-01D-1265-08 TCGA-73-4668-11A-01D-1265-08 g.chr5:118485771G>T c.4249G>T c.(4249-4251)Gat>Tat p.D1417Y LUAD 5 118485852 118485852 + Missense_Mutation SNP G G C TCGA-49-6745-01A-11D-1855-08 TCGA-49-6745-11A-01D-1855-08 g.chr5:118485852G>C c.4330G>C c.(4330-4332)Gat>Cat p.D1444H LUAD 5 118485974 118485974 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr5:118485974G>T c.4452G>T c.(4450-4452)gaG>gaT p.E1484D LUAD 5 118486002 118486002 + Missense_Mutation SNP C C T TCGA-44-7667-01A-31D-2063-08 TCGA-44-7667-10A-01D-2063-08 g.chr5:118486002C>T c.4480C>T c.(4480-4482)Ctt>Ttt p.L1494F LUAD 5 118500202 118500202 + Splice_Site SNP G G T TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 g.chr5:118500202G>T c.4703G>T c.(4702-4704)gGc>gTc p.G1568V LUAD 5 118502310 118502310 + Splice_Site SNP G G T TCGA-80-5611-01A-01D-1625-08 TCGA-80-5611-10A-01D-1625-08 g.chr5:118502310G>T c.e22-1 LUAD 5 118506226 118506226 + Missense_Mutation SNP G G T TCGA-NJ-A4YF-01A-12D-A25L-08 TCGA-NJ-A4YF-10A-01D-A25L-08 g.chr5:118506226G>T c.5740G>T c.(5740-5742)Gca>Tca p.A1914S LUAD 5 118506471 118506471 + Missense_Mutation SNP A A T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 g.chr5:118506471A>T c.5985A>T c.(5983-5985)aaA>aaT p.K1995N LUAD 5 118510967 118510967 + Missense_Mutation SNP G G A TCGA-97-A4M5-01A-11D-A24P-08 TCGA-97-A4M5-10A-01D-A24P-08 g.chr5:118510967G>A c.6693G>A c.(6691-6693)atG>atA p.M2231I LUAD 5 118513159 118513159 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr5:118513159C>T c.6866C>T c.(6865-6867)aCg>aTg p.T2289M LUAD 5 118525409 118525409 + Missense_Mutation SNP C C T TCGA-05-5428-01A-01D-1625-08 TCGA-05-5428-10A-01D-1625-08 g.chr5:118525409C>T c.7142C>T c.(7141-7143)tCa>tTa p.S2381L LUAD 5 118525452 118525452 + Silent SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 g.chr5:118525452G>A c.7185G>A c.(7183-7185)ccG>ccA p.P2395P LUAD 5 118556759 118556759 + Frame_Shift_Del DEL G G - TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr5:118556759delG c.8197delG c.(8197-8199)ggcfs p.G2733fs LUAD 5 118560423 118560423 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 g.chr5:118560423A>G c.8234A>G c.(8233-8235)aAt>aGt p.N2745S LUAD 5 118573099 118573099 + Missense_Mutation SNP A A T TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr5:118573099A>T c.8486A>T c.(8485-8487)aAg>aTg p.K2829M LUAD 5 118580152 118580152 + Missense_Mutation SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr5:118580152G>C c.8740G>C c.(8740-8742)Gac>Cac p.D2914H LUAD 5 118580248 118580248 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr5:118580248G>A c.8836G>A c.(8836-8838)Gga>Aga p.G2946R LUSC 5 118440944 118440944 + Missense_Mutation SNP G G T TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr5:118440944G>T c.355G>T c.(355-357)Gat>Tat p.D119Y LUSC 5 118465097 118465097 + Missense_Mutation SNP G G T TCGA-60-2712-01A-01D-1522-08 TCGA-60-2712-11A-01D-1522-08 g.chr5:118465097G>T c.1294G>T c.(1294-1296)Gca>Tca p.A432S LUSC 5 118479539 118479539 + Missense_Mutation SNP T T A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr5:118479539T>A c.2380T>A c.(2380-2382)Tat>Aat p.Y794N LUSC 5 118484909 118484909 + Silent SNP A A G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 g.chr5:118484909A>G c.3387A>G c.(3385-3387)aaA>aaG p.K1129K LUSC 5 118485124 118485124 + Missense_Mutation SNP G G T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 g.chr5:118485124G>T c.3602G>T c.(3601-3603)cGa>cTa p.R1201L LUSC 5 118485540 118485540 + Silent SNP C C A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 g.chr5:118485540C>A c.4018C>A c.(4018-4020)Cgg>Agg p.R1340R LUSC 5 118485784 118485784 + Nonsense_Mutation SNP C C G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr5:118485784C>G c.4262C>G c.(4261-4263)tCa>tGa p.S1421* LUSC 5 118503367 118503367 + Missense_Mutation SNP G G C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr5:118503367G>C c.5206G>C c.(5206-5208)Gat>Cat p.D1736H LUSC 5 118513065 118513065 + Missense_Mutation SNP A A G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr5:118513065A>G c.6772A>G c.(6772-6774)Aat>Gat p.N2258D LUSC 5 118529647 118529647 + Missense_Mutation SNP C C G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 g.chr5:118529647C>G c.7439C>G c.(7438-7440)tCt>tGt p.S2480C LUSC 5 118533536 118533536 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr5:118533536C>T c.7630C>T c.(7630-7632)Cat>Tat p.H2544Y OV 5 118485175 118485175 + Missense_Mutation SNP C C G TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 g.chr5:118485175C>G c.3653C>G c.(3652-3654)tCt>tGt p.S1218C OV 5 118500236 118500236 + Missense_Mutation SNP C C G TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 g.chr5:118500236C>G c.4737C>G c.(4735-4737)caC>caG p.H1579Q OV 5 118513137 118513137 + Missense_Mutation SNP G G C TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 g.chr5:118513137G>C c.6844G>C c.(6844-6846)Gat>Cat p.D2282H OV 5 118576153 118576153 + Silent SNP T T C TCGA-24-0968-01A-01W-0484-10 TCGA-24-0968-10C-01W-0484-10 g.chr5:118576153T>C c.8628T>C c.(8626-8628)aaT>aaC p.N2876N PAAD 5 118469685 118469685 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:118469685G>T c.2066G>T c.(2065-2067)aGc>aTc p.S689I PAAD 5 118484538 118484538 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:118484538G>T c.3016G>T c.(3016-3018)Gat>Tat p.D1006Y PAAD 5 118484750 118484750 + Missense_Mutation SNP G G T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 g.chr5:118484750G>T c.3228G>T c.(3226-3228)atG>atT p.M1076I PAAD 5 118485814 118485814 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:118485814C>T c.4292C>T c.(4291-4293)aCg>aTg p.T1431M PAAD 5 118506551 118506551 + Missense_Mutation SNP A A C TCGA-IB-A7M4-01A-11D-A36O-08 TCGA-IB-A7M4-10A-01D-A367-08 g.chr5:118506551A>C c.6065A>C c.(6064-6066)gAt>gCt p.D2022A PAAD 5 118513060 118513060 + Missense_Mutation SNP A A G TCGA-3A-A9IR-01A-11D-A38G-08 TCGA-3A-A9IR-10A-01D-A38J-08 g.chr5:118513060A>G c.6767A>G c.(6766-6768)cAg>cGg p.Q2256R PRAD 5 118469852 118469852 + Missense_Mutation SNP C C G TCGA-CH-5790-01A-11D-1576-08 TCGA-CH-5790-10A-01D-1576-08 g.chr5:118469852C>G c.2233C>G c.(2233-2235)Ctt>Gtt p.L745V PRAD 5 118486030 118486030 + Missense_Mutation SNP G G A TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 g.chr5:118486030G>A c.4508G>A c.(4507-4509)cGg>cAg p.R1503Q PRAD 5 118487710 118487710 + Nonsense_Mutation SNP C C T TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr5:118487710C>T c.4681C>T c.(4681-4683)Cga>Tga p.R1561* PRAD 5 118507503 118507504 + Frame_Shift_Ins INS - - T TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 g.chr5:118507503_118507504insT c.6520_6521insT c.(6520-6522)ctgfs p.L2174fs PRAD 5 118525452 118525452 + Silent SNP G G A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 g.chr5:118525452G>A c.7185G>A c.(7183-7185)ccG>ccA p.P2395P PRAD 5 118533507 118533507 + Missense_Mutation SNP A A G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr5:118533507A>G c.7601A>G c.(7600-7602)gAa>gGa p.E2534G PRAD 5 118533574 118533574 + Silent SNP C C A TCGA-HI-7169-01A-11D-2114-08 TCGA-HI-7169-10A-01D-2115-08 g.chr5:118533574C>A c.7668C>A c.(7666-7668)acC>acA p.T2556T READ 5 118433743 118433743 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr5:118433743G>A c.157G>A c.(157-159)Gct>Act p.A53T READ 5 118468902 118468902 + Missense_Mutation SNP A A C TCGA-AG-3878-01A-02W-0899-10 TCGA-AG-3878-10A-01W-0901-10 g.chr5:118468902A>C c.1391A>C c.(1390-1392)aAc>aCc p.N464T READ 5 118469205 118469205 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:118469205G>T c.1586G>T c.(1585-1587)aGa>aTa p.R529I READ 5 118469391 118469391 + Missense_Mutation SNP G G A TCGA-CI-6619-01B-11D-1826-10 TCGA-CI-6619-10A-01D-1826-10 g.chr5:118469391G>A c.1772G>A c.(1771-1773)aGt>aAt p.S591N READ 5 118469657 118469657 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:118469657G>T c.2038G>T c.(2038-2040)Gaa>Taa p.E680* READ 5 118483022 118483022 + Missense_Mutation SNP T T A TCGA-AG-3593-01A-01W-0831-10 TCGA-AG-3593-10A-01W-0831-10 g.chr5:118483022T>A c.2768T>A c.(2767-2769)cTa>cAa p.L923Q READ 5 118485175 118485175 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:118485175C>A c.3653C>A c.(3652-3654)tCt>tAt p.S1218Y READ 5 118485283 118485283 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:118485283C>T c.3761C>T c.(3760-3762)tCg>tTg p.S1254L READ 5 118506692 118506692 + Missense_Mutation SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr5:118506692C>T c.6206C>T c.(6205-6207)gCt>gTt p.A2069V SARC 5 118451988 118451988 + Missense_Mutation SNP G G A TCGA-DX-A1KZ-01A-11D-A24N-09 TCGA-DX-A1KZ-10A-01D-A24N-09 g.chr5:118451988G>A c.700G>A c.(700-702)Gta>Ata p.V234I SARC 5 118469962 118469962 + Splice_Site SNP G G T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 g.chr5:118469962G>T c.e13-1 SARC 5 118533525 118533525 + Missense_Mutation SNP G G A TCGA-DX-A7EL-01A-12D-A36J-09 TCGA-DX-A7EL-10A-01D-A36M-09 g.chr5:118533525G>A c.7619G>A c.(7618-7620)cGa>cAa p.R2540Q SARC 5 118539113 118539113 + Silent SNP G G A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 g.chr5:118539113G>A c.7845G>A c.(7843-7845)aaG>aaA p.K2615K SKCM 5 118450179 118450179 + Silent SNP C C T TCGA-EE-A3AD-06A-11D-A196-08 TCGA-EE-A3AD-10A-01D-A198-08 g.chr5:118450179C>T c.507C>T c.(505-507)tcC>tcT p.S169S SKCM 5 118450180 118450180 + Nonsense_Mutation SNP C C T TCGA-EE-A3AD-06A-11D-A196-08 TCGA-EE-A3AD-10A-01D-A198-08 g.chr5:118450180C>T c.508C>T c.(508-510)Caa>Taa p.Q170* SKCM 5 118454697 118454697 + Missense_Mutation SNP G G A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr5:118454697G>A c.931G>A c.(931-933)Gaa>Aaa p.E311K SKCM 5 118456684 118456684 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:118456684C>T c.952C>T c.(952-954)Cgt>Tgt p.R318C SKCM 5 118469492 118469492 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:118469492C>T c.1873C>T c.(1873-1875)Ctc>Ttc p.L625F SKCM 5 118484445 118484445 + Missense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr5:118484445T>A c.2923T>A c.(2923-2925)Tca>Aca p.S975T SKCM 5 118484798 118484798 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr5:118484798C>T c.3276C>T c.(3274-3276)gtC>gtT p.V1092V SKCM 5 118485031 118485031 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr5:118485031G>A c.3509G>A c.(3508-3510)gGc>gAc p.G1170D SKCM 5 118485072 118485072 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr5:118485072C>T c.3550C>T c.(3550-3552)Cct>Tct p.P1184S SKCM 5 118485077 118485077 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 g.chr5:118485077C>T c.3555C>T c.(3553-3555)ctC>ctT p.L1185L SKCM 5 118485177 118485177 + Missense_Mutation SNP T T G TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr5:118485177T>G c.3655T>G c.(3655-3657)Tta>Gta p.L1219V SKCM 5 118485868 118485868 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr5:118485868C>T c.4346C>T c.(4345-4347)aCt>aTt p.T1449I SKCM 5 118487677 118487677 + Missense_Mutation SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 g.chr5:118487677C>T c.4648C>T c.(4648-4650)Cat>Tat p.H1550Y SKCM 5 118487697 118487697 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr5:118487697C>T c.4668C>T c.(4666-4668)tcC>tcT p.S1556S SKCM 5 118500911 118500911 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:118500911C>T c.4906C>T c.(4906-4908)Cct>Tct p.P1636S SKCM 5 118500928 118500928 + Silent SNP T T A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr5:118500928T>A c.4923T>A c.(4921-4923)atT>atA p.I1641I SKCM 5 118503322 118503322 + Missense_Mutation SNP A A G TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 g.chr5:118503322A>G c.5161A>G c.(5161-5163)Att>Gtt p.I1721V SKCM 5 118506066 118506066 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:118506066C>T c.5580C>T c.(5578-5580)acC>acT p.T1860T SKCM 5 118506206 118506206 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr5:118506206C>T c.5720C>T c.(5719-5721)tCt>tTt p.S1907F SKCM 5 118513857 118513857 + Silent SNP A A G TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 g.chr5:118513857A>G c.7053A>G c.(7051-7053)ctA>ctG p.L2351L SKCM 5 118533521 118533521 + Nonsense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr5:118533521C>T c.7615C>T c.(7615-7617)Cga>Tga p.R2539* SKCM 5 118576136 118576136 + Missense_Mutation SNP C C T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 g.chr5:118576136C>T c.8611C>T c.(8611-8613)Ctt>Ttt p.L2871F SKCM 5 118582703 118582703 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr5:118582703C>T c.8873C>T c.(8872-8874)tCt>tTt p.S2958F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 5 118482943 118482943 single base substitution G C splice_acceptor_variant BLCA-CN 5 118484441 118484441 single base substitution G C downstream_gene_variant BLCA-CN 5 118484441 118484441 single base substitution G C synonymous_variant L973L 2919G>C BLCA-CN 5 118484502 118484502 single base substitution G T downstream_gene_variant BLCA-CN 5 118484502 118484502 single base substitution G T missense_variant D994Y 2980G>T BLCA-CN 5 118484782 118484782 single base substitution G C downstream_gene_variant BLCA-CN 5 118484782 118484782 single base substitution G C missense_variant G1087A 3260G>C BLCA-CN 5 118484823 118484823 single base substitution G C downstream_gene_variant BLCA-CN 5 118484823 118484823 single base substitution G C missense_variant E1101Q 3301G>C BLCA-CN 5 118485326 118485326 single base substitution G C downstream_gene_variant BLCA-CN 5 118485326 118485326 single base substitution G C missense_variant Q1268H 3804G>C BLCA-CN 5 118485524 118485524 single base substitution G A downstream_gene_variant BLCA-CN 5 118485524 118485524 single base substitution G A missense_variant M1334I 4002G>A BLCA-CN 5 118485793 118485793 single base substitution A T downstream_gene_variant BLCA-CN 5 118485793 118485793 single base substitution A T missense_variant E1424V 4271A>T BLCA-CN 5 118506603 118506603 single base substitution A C downstream_gene_variant BLCA-CN 5 118506603 118506603 single base substitution A C exon_variant BLCA-CN 5 118506603 118506603 single base substitution A C synonymous_variant V2039V 6117A>C BLCA-US 5 118440935 118440935 single base substitution A G downstream_gene_variant BLCA-US 5 118440935 118440935 single base substitution A G exon_variant BLCA-US 5 118440935 118440935 single base substitution A G missense_variant I116V 346A>G BLCA-US 5 118485340 118485340 single base substitution C T downstream_gene_variant BLCA-US 5 118485340 118485340 single base substitution C T missense_variant S1273F 3818C>T BLCA-US 5 118485427 118485427 single base substitution C A downstream_gene_variant BLCA-US 5 118485427 118485427 single base substitution C A missense_variant P1302H 3905C>A BLCA-US 5 118500366 118500366 single base substitution G C missense_variant E1623Q 4867G>C BLCA-US 5 118500366 118500366 single base substitution G C upstream_gene_variant BLCA-US 5 118533494 118533494 single base substitution C T exon_variant BLCA-US 5 118533494 118533494 single base substitution C T missense_variant L2530F 7588C>T BLCA-US 5 118533494 118533494 single base substitution C T upstream_gene_variant BLCA-US 5 118533569 118533569 single base substitution C T exon_variant BLCA-US 5 118533569 118533569 single base substitution C T missense_variant H2555Y 7663C>T BOCA-FR 5 118417539 118417539 single base substitution T A intron_variant BOCA-FR 5 118486842 118486842 single base substitution A G downstream_gene_variant BOCA-FR 5 118486842 118486842 single base substitution A G intron_variant BRCA-EU 5 118369390 118369390 single base substitution T A upstream_gene_variant BRCA-EU 5 118369495 118369495 single base substitution C T upstream_gene_variant BRCA-EU 5 118371131 118371131 single base substitution C T upstream_gene_variant BRCA-EU 5 118371674 118371674 single base substitution C A upstream_gene_variant BRCA-EU 5 118371745 118371745 single base substitution T C upstream_gene_variant BRCA-EU 5 118372901 118372901 single base substitution G C upstream_gene_variant BRCA-EU 5 118374683 118374683 single base substitution G A intron_variant BRCA-EU 5 118377238 118377238 insertion of <=200bp - A intron_variant BRCA-EU 5 118378561 118378561 single base substitution C A intron_variant BRCA-EU 5 118379673 118379673 single base substitution A T intron_variant BRCA-EU 5 118382191 118382191 single base substitution G A intron_variant BRCA-EU 5 118382888 118382888 single base substitution C A intron_variant BRCA-EU 5 118383626 118383626 single base substitution C T intron_variant BRCA-EU 5 118385052 118385052 single base substitution C T intron_variant BRCA-EU 5 118385586 118385586 single base substitution C T intron_variant BRCA-EU 5 118385851 118385851 single base substitution G A intron_variant BRCA-EU 5 118386458 118386458 single base substitution C G intron_variant BRCA-EU 5 118388941 118388941 single base substitution G A intron_variant BRCA-EU 5 118389057 118389057 single base substitution A G intron_variant BRCA-EU 5 118390117 118390117 single base substitution T G intron_variant BRCA-EU 5 118391472 118391472 single base substitution G A intron_variant BRCA-EU 5 118392576 118392576 single base substitution C A intron_variant BRCA-EU 5 118394229 118394229 single base substitution C T intron_variant BRCA-EU 5 118396508 118396508 single base substitution T C intron_variant BRCA-EU 5 118397904 118397904 single base substitution C T intron_variant BRCA-EU 5 118399470 118399470 single base substitution A C intron_variant BRCA-EU 5 118400603 118400603 single base substitution G A intron_variant BRCA-EU 5 118401769 118401769 single base substitution T A intron_variant BRCA-EU 5 118403079 118403079 single base substitution G A intron_variant BRCA-EU 5 118403079 118403079 single base substitution G A upstream_gene_variant BRCA-EU 5 118404370 118404370 single base substitution G A intron_variant BRCA-EU 5 118404370 118404370 single base substitution G A upstream_gene_variant BRCA-EU 5 118404453 118404453 single base substitution C G intron_variant BRCA-EU 5 118404453 118404453 single base substitution C G upstream_gene_variant BRCA-EU 5 118404513 118404513 deletion of <=200bp T - intron_variant BRCA-EU 5 118404513 118404513 deletion of <=200bp T - upstream_gene_variant BRCA-EU 5 118407063 118407063 single base substitution C G intron_variant BRCA-EU 5 118407063 118407063 single base substitution C G upstream_gene_variant BRCA-EU 5 118407966 118407966 single base substitution G A intron_variant BRCA-EU 5 118408064 118408064 single base substitution T A intron_variant BRCA-EU 5 118408392 118408392 single base substitution A T intron_variant BRCA-EU 5 118410626 118410626 deletion of <=200bp T - intron_variant BRCA-EU 5 118414484 118414484 single base substitution G A intron_variant BRCA-EU 5 118414727 118414727 single base substitution C T intron_variant BRCA-EU 5 118416220 118416220 single base substitution C G intron_variant BRCA-EU 5 118416998 118416998 single base substitution G T intron_variant BRCA-EU 5 118418769 118418769 single base substitution G C intron_variant BRCA-EU 5 118419589 118419589 single base substitution A G intron_variant BRCA-EU 5 118421029 118421029 insertion of <=200bp - AAAT intron_variant BRCA-EU 5 118421029 118421032 deletion of <=200bp AAAT - intron_variant BRCA-EU 5 118422836 118422836 single base substitution G C intron_variant BRCA-EU 5 118423370 118423370 single base substitution G C intron_variant BRCA-EU 5 118423436 118423436 single base substitution C T intron_variant BRCA-EU 5 118424136 118424136 single base substitution T A intron_variant BRCA-EU 5 118424476 118424476 single base substitution C T intron_variant BRCA-EU 5 118425746 118425746 single base substitution G A intron_variant BRCA-EU 5 118426351 118426351 single base substitution G A intron_variant BRCA-EU 5 118426555 118426555 single base substitution T C intron_variant BRCA-EU 5 118427001 118427001 single base substitution A T intron_variant BRCA-EU 5 118427324 118427324 single base substitution G A intron_variant BRCA-EU 5 118428422 118428422 single base substitution G A intron_variant BRCA-EU 5 118428965 118428965 single base substitution G C intron_variant BRCA-EU 5 118433010 118433010 single base substitution C G intron_variant BRCA-EU 5 118433010 118433010 single base substitution C G upstream_gene_variant BRCA-EU 5 118433077 118433077 single base substitution A T intron_variant BRCA-EU 5 118433077 118433077 single base substitution A T upstream_gene_variant BRCA-EU 5 118434600 118434600 single base substitution A G intron_variant BRCA-EU 5 118434600 118434600 single base substitution A G upstream_gene_variant BRCA-EU 5 118435687 118435687 single base substitution C T intron_variant BRCA-EU 5 118435687 118435687 single base substitution C T upstream_gene_variant BRCA-EU 5 118436505 118436505 single base substitution C T intron_variant BRCA-EU 5 118436505 118436505 single base substitution C T upstream_gene_variant BRCA-EU 5 118439158 118439158 single base substitution A G downstream_gene_variant BRCA-EU 5 118439158 118439158 single base substitution A G intron_variant BRCA-EU 5 118439158 118439158 single base substitution A G upstream_gene_variant BRCA-EU 5 118439981 118439981 single base substitution G A downstream_gene_variant BRCA-EU 5 118439981 118439981 single base substitution G A intron_variant BRCA-EU 5 118439981 118439981 single base substitution G A upstream_gene_variant BRCA-EU 5 118439987 118439987 single base substitution G A downstream_gene_variant BRCA-EU 5 118439987 118439987 single base substitution G A intron_variant BRCA-EU 5 118439987 118439987 single base substitution G A upstream_gene_variant BRCA-EU 5 118440398 118440398 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 118440398 118440398 deletion of <=200bp A - intron_variant BRCA-EU 5 118440398 118440398 deletion of <=200bp A - upstream_gene_variant BRCA-EU 5 118440507 118440507 single base substitution C G downstream_gene_variant BRCA-EU 5 118440507 118440507 single base substitution C G intron_variant BRCA-EU 5 118440507 118440507 single base substitution C G upstream_gene_variant BRCA-EU 5 118441006 118441006 single base substitution C T downstream_gene_variant BRCA-EU 5 118441006 118441006 single base substitution C T intron_variant BRCA-EU 5 118442727 118442727 single base substitution A G downstream_gene_variant BRCA-EU 5 118442727 118442727 single base substitution A G intron_variant BRCA-EU 5 118443837 118443837 single base substitution C T downstream_gene_variant BRCA-EU 5 118443837 118443837 single base substitution C T intron_variant BRCA-EU 5 118444108 118444108 single base substitution C G downstream_gene_variant BRCA-EU 5 118444108 118444108 single base substitution C G intron_variant BRCA-EU 5 118444720 118444720 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 118444720 118444720 deletion of <=200bp T - intron_variant BRCA-EU 5 118444789 118444789 single base substitution C T downstream_gene_variant BRCA-EU 5 118444789 118444789 single base substitution C T intron_variant BRCA-EU 5 118445580 118445580 single base substitution G A downstream_gene_variant BRCA-EU 5 118445580 118445580 single base substitution G A intron_variant BRCA-EU 5 118445635 118445635 single base substitution A C downstream_gene_variant BRCA-EU 5 118445635 118445635 single base substitution A C intron_variant BRCA-EU 5 118446258 118446258 single base substitution C A intron_variant BRCA-EU 5 118446258 118446258 single base substitution C T intron_variant BRCA-EU 5 118446606 118446606 single base substitution C T intron_variant BRCA-EU 5 118448949 118448949 single base substitution G T intron_variant BRCA-EU 5 118450981 118450981 single base substitution G A intron_variant BRCA-EU 5 118452046 118452046 single base substitution C T intron_variant BRCA-EU 5 118452514 118452514 single base substitution G T intron_variant BRCA-EU 5 118452987 118452987 single base substitution C A intron_variant BRCA-EU 5 118454780 118454780 deletion of <=200bp A - intron_variant BRCA-EU 5 118456358 118456358 insertion of <=200bp - T intron_variant BRCA-EU 5 118457940 118457940 single base substitution C T intron_variant BRCA-EU 5 118459663 118459663 single base substitution C T intron_variant BRCA-EU 5 118459688 118459688 single base substitution C G intron_variant BRCA-EU 5 118460334 118460334 single base substitution C G intron_variant BRCA-EU 5 118460334 118460334 single base substitution C G upstream_gene_variant BRCA-EU 5 118461266 118461266 single base substitution G C intron_variant BRCA-EU 5 118461266 118461266 single base substitution G C upstream_gene_variant BRCA-EU 5 118462955 118462955 single base substitution T G intron_variant BRCA-EU 5 118462955 118462955 single base substitution T G upstream_gene_variant BRCA-EU 5 118464810 118464810 single base substitution C G intron_variant BRCA-EU 5 118464810 118464810 single base substitution C G upstream_gene_variant BRCA-EU 5 118465229 118465229 single base substitution A G downstream_gene_variant BRCA-EU 5 118465229 118465229 single base substitution A G intron_variant BRCA-EU 5 118465229 118465229 single base substitution A G upstream_gene_variant BRCA-EU 5 118465881 118465881 single base substitution A G downstream_gene_variant BRCA-EU 5 118465881 118465881 single base substitution A G intron_variant BRCA-EU 5 118465881 118465881 single base substitution A G upstream_gene_variant BRCA-EU 5 118466359 118466359 single base substitution C G downstream_gene_variant BRCA-EU 5 118466359 118466359 single base substitution C G intron_variant BRCA-EU 5 118466359 118466359 single base substitution C G upstream_gene_variant BRCA-EU 5 118467165 118467165 single base substitution A T downstream_gene_variant BRCA-EU 5 118467165 118467165 single base substitution A T intron_variant BRCA-EU 5 118467165 118467165 single base substitution A T upstream_gene_variant BRCA-EU 5 118468806 118468806 single base substitution C A downstream_gene_variant BRCA-EU 5 118468806 118468806 single base substitution C A intron_variant BRCA-EU 5 118468806 118468806 single base substitution C A upstream_gene_variant BRCA-EU 5 118469810 118469810 single base substitution C G downstream_gene_variant BRCA-EU 5 118469810 118469810 single base substitution C G missense_variant L731V 2191C>G BRCA-EU 5 118469810 118469810 single base substitution C G upstream_gene_variant BRCA-EU 5 118469823 118469823 single base substitution C T downstream_gene_variant BRCA-EU 5 118469823 118469823 single base substitution C T missense_variant A735V 2204C>T BRCA-EU 5 118469823 118469823 single base substitution C T upstream_gene_variant BRCA-EU 5 118472567 118472567 single base substitution C T downstream_gene_variant BRCA-EU 5 118472567 118472567 single base substitution C T intron_variant BRCA-EU 5 118472780 118472780 single base substitution C T downstream_gene_variant BRCA-EU 5 118472780 118472780 single base substitution C T intron_variant BRCA-EU 5 118472896 118472896 single base substitution C T downstream_gene_variant BRCA-EU 5 118472896 118472896 single base substitution C T intron_variant BRCA-EU 5 118473426 118473426 single base substitution C T downstream_gene_variant BRCA-EU 5 118473426 118473426 single base substitution C T intron_variant BRCA-EU 5 118473934 118473934 single base substitution G A downstream_gene_variant BRCA-EU 5 118473934 118473934 single base substitution G A intron_variant BRCA-EU 5 118474204 118474204 single base substitution G C downstream_gene_variant BRCA-EU 5 118474204 118474204 single base substitution G C intron_variant BRCA-EU 5 118474390 118474390 single base substitution G T intron_variant BRCA-EU 5 118477223 118477223 single base substitution A G intron_variant BRCA-EU 5 118477659 118477659 single base substitution A T intron_variant BRCA-EU 5 118478750 118478750 single base substitution A G intron_variant BRCA-EU 5 118479525 118479525 insertion of <=200bp - A intron_variant BRCA-EU 5 118480157 118480157 single base substitution A G intron_variant BRCA-EU 5 118480252 118480252 single base substitution C T exon_variant BRCA-EU 5 118480252 118480252 single base substitution C T missense_variant L830F 2488C>T BRCA-EU 5 118480325 118480325 single base substitution C G exon_variant BRCA-EU 5 118480325 118480325 single base substitution C G missense_variant S854C 2561C>G BRCA-EU 5 118481218 118481221 deletion of <=200bp TTAT - intron_variant BRCA-EU 5 118481588 118481588 single base substitution G C intron_variant BRCA-EU 5 118482015 118482015 single base substitution A G intron_variant BRCA-EU 5 118483186 118483186 single base substitution G C exon_variant BRCA-EU 5 118483186 118483186 single base substitution G C intron_variant BRCA-EU 5 118484165 118484165 single base substitution C T downstream_gene_variant BRCA-EU 5 118484165 118484165 single base substitution C T intron_variant BRCA-EU 5 118485672 118485672 single base substitution A G downstream_gene_variant BRCA-EU 5 118485672 118485672 single base substitution A G missense_variant R1384G 4150A>G BRCA-EU 5 118486250 118486250 single base substitution G A downstream_gene_variant BRCA-EU 5 118486250 118486250 single base substitution G A intron_variant BRCA-EU 5 118487458 118487458 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 118487458 118487458 deletion of <=200bp T - intron_variant BRCA-EU 5 118488387 118488387 single base substitution A G intron_variant BRCA-EU 5 118489137 118489137 single base substitution T C intron_variant BRCA-EU 5 118490770 118490770 single base substitution C T intron_variant BRCA-EU 5 118490878 118490878 single base substitution A C intron_variant BRCA-EU 5 118491473 118491473 single base substitution G T intron_variant BRCA-EU 5 118492232 118492232 single base substitution A C intron_variant BRCA-EU 5 118492632 118492632 single base substitution C T intron_variant BRCA-EU 5 118493528 118493528 insertion of <=200bp - T intron_variant BRCA-EU 5 118494190 118494190 single base substitution G T intron_variant BRCA-EU 5 118495366 118495366 single base substitution C G intron_variant BRCA-EU 5 118495396 118495396 single base substitution G A intron_variant BRCA-EU 5 118497782 118497782 single base substitution T G intron_variant BRCA-EU 5 118498458 118498497 deletion of <=200bp ATTGAAGTTGCTGGAGAGATAACAGGAATCCAAAAATTTG - intron_variant BRCA-EU 5 118498458 118498497 deletion of <=200bp ATTGAAGTTGCTGGAGAGATAACAGGAATCCAAAAATTTG - upstream_gene_variant BRCA-EU 5 118499144 118499144 single base substitution C G intron_variant BRCA-EU 5 118499144 118499144 single base substitution C G upstream_gene_variant BRCA-EU 5 118499522 118499522 single base substitution G A intron_variant BRCA-EU 5 118499522 118499522 single base substitution G A upstream_gene_variant BRCA-EU 5 118500371 118500372 deletion of <=200bp AG - frameshift_variant K1624 BRCA-EU 5 118500371 118500372 deletion of <=200bp AG - upstream_gene_variant BRCA-EU 5 118502316 118502316 deletion of <=200bp A - frameshift_variant E1659 BRCA-EU 5 118502316 118502316 deletion of <=200bp A - upstream_gene_variant BRCA-EU 5 118502557 118502557 single base substitution A T intron_variant BRCA-EU 5 118502557 118502557 single base substitution A T upstream_gene_variant BRCA-EU 5 118502995 118502995 single base substitution A G intron_variant BRCA-EU 5 118502995 118502995 single base substitution A G upstream_gene_variant BRCA-EU 5 118503275 118503275 insertion of <=200bp - A intron_variant BRCA-EU 5 118503275 118503275 insertion of <=200bp - A upstream_gene_variant BRCA-EU 5 118504522 118504522 single base substitution A G intron_variant BRCA-EU 5 118504522 118504522 single base substitution A G upstream_gene_variant BRCA-EU 5 118505621 118505621 single base substitution C T intron_variant BRCA-EU 5 118505621 118505621 single base substitution C T upstream_gene_variant BRCA-EU 5 118505863 118505863 single base substitution C G intron_variant BRCA-EU 5 118505863 118505863 single base substitution C G upstream_gene_variant BRCA-EU 5 118507077 118507077 single base substitution G A downstream_gene_variant BRCA-EU 5 118507077 118507077 single base substitution G A intron_variant BRCA-EU 5 118507633 118507633 single base substitution C T downstream_gene_variant BRCA-EU 5 118507633 118507633 single base substitution C T missense_variant S2217L 6650C>T BRCA-EU 5 118507735 118507735 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 118507735 118507735 deletion of <=200bp T - intron_variant BRCA-EU 5 118508413 118508413 single base substitution A C downstream_gene_variant BRCA-EU 5 118508413 118508413 single base substitution A C intron_variant BRCA-EU 5 118508462 118508462 single base substitution C T downstream_gene_variant BRCA-EU 5 118508462 118508462 single base substitution C T intron_variant BRCA-EU 5 118509839 118509839 single base substitution G C downstream_gene_variant BRCA-EU 5 118509839 118509839 single base substitution G C intron_variant BRCA-EU 5 118510817 118510817 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 118510817 118510817 deletion of <=200bp A - intron_variant BRCA-EU 5 118510897 118510897 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 118510897 118510897 deletion of <=200bp A - intron_variant BRCA-EU 5 118511697 118511697 single base substitution A G downstream_gene_variant BRCA-EU 5 118511697 118511697 single base substitution A G intron_variant BRCA-EU 5 118512205 118512205 single base substitution G A downstream_gene_variant BRCA-EU 5 118512205 118512205 single base substitution G A intron_variant BRCA-EU 5 118514852 118514852 insertion of <=200bp - T intron_variant BRCA-EU 5 118515330 118515330 single base substitution G T intron_variant BRCA-EU 5 118516073 118516073 single base substitution A G intron_variant BRCA-EU 5 118516397 118516397 single base substitution C A intron_variant BRCA-EU 5 118516648 118516648 deletion of <=200bp A - intron_variant BRCA-EU 5 118517129 118517129 single base substitution C A intron_variant BRCA-EU 5 118517686 118517686 single base substitution C T intron_variant BRCA-EU 5 118518077 118518077 single base substitution G C intron_variant BRCA-EU 5 118518832 118518832 single base substitution G A intron_variant BRCA-EU 5 118519252 118519252 single base substitution C T intron_variant BRCA-EU 5 118519284 118519284 single base substitution C T intron_variant BRCA-EU 5 118519477 118519477 single base substitution T A intron_variant BRCA-EU 5 118519499 118519499 single base substitution A G intron_variant BRCA-EU 5 118520086 118520086 single base substitution G A intron_variant BRCA-EU 5 118521382 118521382 single base substitution G C intron_variant BRCA-EU 5 118521750 118521750 single base substitution G A intron_variant BRCA-EU 5 118523376 118523376 single base substitution G A intron_variant BRCA-EU 5 118524806 118524806 single base substitution C G intron_variant BRCA-EU 5 118525475 118525475 single base substitution C G missense_variant S2403C 7208C>G BRCA-EU 5 118526117 118526117 single base substitution C T intron_variant BRCA-EU 5 118527048 118527048 single base substitution C T intron_variant BRCA-EU 5 118527754 118527754 single base substitution C T intron_variant BRCA-EU 5 118528029 118528029 single base substitution T G intron_variant BRCA-EU 5 118528057 118528057 single base substitution T G intron_variant BRCA-EU 5 118531466 118531466 single base substitution C A intron_variant BRCA-EU 5 118531466 118531466 single base substitution C A upstream_gene_variant BRCA-EU 5 118531525 118531525 single base substitution C G intron_variant BRCA-EU 5 118531525 118531525 single base substitution C G upstream_gene_variant BRCA-EU 5 118532256 118532256 single base substitution G A intron_variant BRCA-EU 5 118532256 118532256 single base substitution G A upstream_gene_variant BRCA-EU 5 118534046 118534046 single base substitution C T intron_variant BRCA-EU 5 118534077 118534077 single base substitution T C intron_variant BRCA-EU 5 118534281 118534281 single base substitution C T intron_variant BRCA-EU 5 118534655 118534655 single base substitution C T intron_variant BRCA-EU 5 118534907 118534907 single base substitution C G intron_variant BRCA-EU 5 118536286 118536286 single base substitution C A intron_variant BRCA-EU 5 118536736 118536736 single base substitution T G intron_variant BRCA-EU 5 118537099 118537099 single base substitution C T intron_variant BRCA-EU 5 118537157 118537157 single base substitution G A intron_variant BRCA-EU 5 118537816 118537816 single base substitution T C intron_variant BRCA-EU 5 118537816 118537816 single base substitution T C upstream_gene_variant BRCA-EU 5 118539608 118539608 single base substitution C T intron_variant BRCA-EU 5 118539608 118539608 single base substitution C T upstream_gene_variant BRCA-EU 5 118540854 118540854 single base substitution A T intron_variant BRCA-EU 5 118540854 118540854 single base substitution A T upstream_gene_variant BRCA-EU 5 118543616 118543616 insertion of <=200bp - A downstream_gene_variant BRCA-EU 5 118543616 118543616 insertion of <=200bp - A intron_variant BRCA-EU 5 118547988 118547988 single base substitution A G intron_variant BRCA-EU 5 118548123 118548123 single base substitution C T intron_variant BRCA-EU 5 118548976 118548976 single base substitution C G intron_variant BRCA-EU 5 118549115 118549115 single base substitution T A intron_variant BRCA-EU 5 118550374 118550374 deletion of <=200bp A - intron_variant BRCA-EU 5 118550506 118550506 single base substitution T C intron_variant BRCA-EU 5 118550923 118550923 single base substitution G A intron_variant BRCA-EU 5 118551214 118551214 single base substitution T C intron_variant BRCA-EU 5 118553841 118553841 single base substitution G A intron_variant BRCA-EU 5 118553876 118553876 single base substitution A G intron_variant BRCA-EU 5 118553909 118553909 deletion of <=200bp A - intron_variant BRCA-EU 5 118554007 118554007 single base substitution G C intron_variant BRCA-EU 5 118554387 118554387 single base substitution C T intron_variant BRCA-EU 5 118555178 118555178 insertion of <=200bp - T intron_variant BRCA-EU 5 118557190 118557190 single base substitution C T intron_variant BRCA-EU 5 118557794 118557794 single base substitution G A intron_variant BRCA-EU 5 118558036 118558036 single base substitution G A intron_variant BRCA-EU 5 118559445 118559445 deletion of <=200bp T - intron_variant BRCA-EU 5 118560643 118560644 deletion of <=200bp AA - intron_variant BRCA-EU 5 118564176 118564176 single base substitution C A intron_variant BRCA-EU 5 118565394 118565394 single base substitution C T intron_variant BRCA-EU 5 118565877 118565877 single base substitution G A intron_variant BRCA-EU 5 118566082 118566082 single base substitution A G intron_variant BRCA-EU 5 118566621 118566621 single base substitution T A intron_variant BRCA-EU 5 118569857 118569857 single base substitution T G intron_variant BRCA-EU 5 118569857 118569857 single base substitution T G upstream_gene_variant BRCA-EU 5 118569906 118569906 single base substitution G A intron_variant BRCA-EU 5 118569906 118569906 single base substitution G A upstream_gene_variant BRCA-EU 5 118570115 118570115 single base substitution C A intron_variant BRCA-EU 5 118570115 118570115 single base substitution C A upstream_gene_variant BRCA-EU 5 118572324 118572324 single base substitution G A exon_variant BRCA-EU 5 118572324 118572324 single base substitution G A intron_variant BRCA-EU 5 118573687 118573687 single base substitution T C downstream_gene_variant BRCA-EU 5 118573687 118573687 single base substitution T C intron_variant BRCA-EU 5 118573844 118573844 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 118573844 118573844 deletion of <=200bp T - intron_variant BRCA-EU 5 118574023 118574023 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 118574023 118574023 deletion of <=200bp A - intron_variant BRCA-EU 5 118578816 118578816 single base substitution G A intron_variant BRCA-EU 5 118579756 118579756 single base substitution G A intron_variant BRCA-EU 5 118580260 118580260 single base substitution G T exon_variant BRCA-EU 5 118580260 118580260 single base substitution G T missense_variant G2950C 8848G>T BRCA-EU 5 118580260 118580260 single base substitution G T missense_variant G2971C 8911G>T BRCA-EU 5 118580966 118580966 single base substitution C T intron_variant BRCA-EU 5 118581908 118581908 single base substitution A T intron_variant BRCA-EU 5 118583201 118583201 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 118583201 118583201 single base substitution G A downstream_gene_variant BRCA-EU 5 118583201 118583201 single base substitution G A exon_variant BRCA-EU 5 118583430 118583430 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 118583430 118583430 single base substitution G A downstream_gene_variant BRCA-EU 5 118583430 118583430 single base substitution G A exon_variant BRCA-EU 5 118584985 118584985 single base substitution A G downstream_gene_variant BRCA-EU 5 118586729 118586729 single base substitution A G downstream_gene_variant BRCA-EU 5 118588778 118588778 single base substitution C T downstream_gene_variant BRCA-FR 5 118378561 118378561 single base substitution C A intron_variant BRCA-FR 5 118382888 118382888 single base substitution C A intron_variant BRCA-FR 5 118394229 118394229 single base substitution C T intron_variant BRCA-FR 5 118403016 118403016 single base substitution G T intron_variant BRCA-FR 5 118403016 118403016 single base substitution G T upstream_gene_variant BRCA-FR 5 118403063 118403063 single base substitution C T intron_variant BRCA-FR 5 118403063 118403063 single base substitution C T upstream_gene_variant BRCA-FR 5 118405490 118405490 single base substitution C G intron_variant BRCA-FR 5 118405490 118405490 single base substitution C G upstream_gene_variant BRCA-FR 5 118428965 118428965 single base substitution G C intron_variant BRCA-FR 5 118433010 118433010 single base substitution C G intron_variant BRCA-FR 5 118433010 118433010 single base substitution C G upstream_gene_variant BRCA-FR 5 118436505 118436505 single base substitution C T intron_variant BRCA-FR 5 118436505 118436505 single base substitution C T upstream_gene_variant BRCA-FR 5 118444502 118444502 single base substitution T C downstream_gene_variant BRCA-FR 5 118444502 118444502 single base substitution T C intron_variant BRCA-FR 5 118445713 118445713 single base substitution C A downstream_gene_variant BRCA-FR 5 118445713 118445713 single base substitution C A intron_variant BRCA-FR 5 118447680 118447680 single base substitution A T intron_variant BRCA-FR 5 118447907 118447907 single base substitution C T intron_variant BRCA-FR 5 118452046 118452046 single base substitution C T intron_variant BRCA-FR 5 118466359 118466359 single base substitution C G downstream_gene_variant BRCA-FR 5 118466359 118466359 single base substitution C G intron_variant BRCA-FR 5 118466359 118466359 single base substitution C G upstream_gene_variant BRCA-FR 5 118472780 118472780 single base substitution C T downstream_gene_variant BRCA-FR 5 118472780 118472780 single base substitution C T intron_variant BRCA-FR 5 118482015 118482015 single base substitution A G intron_variant BRCA-FR 5 118488387 118488387 single base substitution A G intron_variant BRCA-FR 5 118500196 118500196 single base substitution C T splice_region_variant BRCA-FR 5 118500196 118500196 single base substitution C T upstream_gene_variant BRCA-FR 5 118502557 118502557 single base substitution A T intron_variant BRCA-FR 5 118502557 118502557 single base substitution A T upstream_gene_variant BRCA-FR 5 118507633 118507633 single base substitution C T downstream_gene_variant BRCA-FR 5 118507633 118507633 single base substitution C T missense_variant S2217L 6650C>T BRCA-FR 5 118518832 118518832 single base substitution G A intron_variant BRCA-FR 5 118519477 118519477 single base substitution T A intron_variant BRCA-FR 5 118519499 118519499 single base substitution A G intron_variant BRCA-FR 5 118520086 118520086 single base substitution G A intron_variant BRCA-FR 5 118521750 118521750 single base substitution G A intron_variant BRCA-FR 5 118523376 118523376 single base substitution G A intron_variant BRCA-FR 5 118532256 118532256 single base substitution G A intron_variant BRCA-FR 5 118532256 118532256 single base substitution G A upstream_gene_variant BRCA-FR 5 118536286 118536286 single base substitution C A intron_variant BRCA-FR 5 118537099 118537099 single base substitution C T intron_variant BRCA-FR 5 118547262 118547262 single base substitution A G downstream_gene_variant BRCA-FR 5 118547262 118547262 single base substitution A G intron_variant BRCA-FR 5 118554387 118554387 single base substitution C T intron_variant BRCA-FR 5 118558036 118558036 single base substitution G A intron_variant BRCA-FR 5 118564176 118564176 single base substitution C A intron_variant BRCA-FR 5 118564870 118564870 single base substitution C A intron_variant BRCA-FR 5 118565394 118565394 single base substitution C T intron_variant BRCA-FR 5 118579756 118579756 single base substitution G A intron_variant BRCA-FR 5 118580966 118580966 single base substitution C T intron_variant BRCA-FR 5 118581908 118581908 single base substitution A T intron_variant BRCA-FR 5 118587715 118587715 single base substitution G T downstream_gene_variant BRCA-KR 5 118542525 118542525 single base substitution G A exon_variant BRCA-KR 5 118542525 118542525 single base substitution G A intron_variant BRCA-KR 5 118542525 118542525 single base substitution G A splice_region_variant BRCA-UK 5 118412733 118412733 single base substitution G C intron_variant BRCA-UK 5 118434974 118434974 single base substitution C G intron_variant BRCA-UK 5 118434974 118434974 single base substitution C G upstream_gene_variant BRCA-UK 5 118444108 118444108 single base substitution C G downstream_gene_variant BRCA-UK 5 118444108 118444108 single base substitution C G intron_variant BRCA-UK 5 118517690 118517690 single base substitution C G intron_variant BRCA-UK 5 118518240 118518240 single base substitution C T intron_variant BRCA-UK 5 118534046 118534046 single base substitution C G intron_variant BRCA-UK 5 118534698 118534698 single base substitution C G intron_variant BRCA-UK 5 118540637 118540637 single base substitution C T intron_variant BRCA-UK 5 118540637 118540637 single base substitution C T upstream_gene_variant BRCA-UK 5 118540854 118540854 single base substitution A T intron_variant BRCA-UK 5 118540854 118540854 single base substitution A T upstream_gene_variant BRCA-UK 5 118541375 118541375 single base substitution C G intron_variant BRCA-UK 5 118541375 118541375 single base substitution C G upstream_gene_variant BRCA-UK 5 118566621 118566621 single base substitution T A intron_variant BRCA-UK 5 118572324 118572324 single base substitution G A exon_variant BRCA-UK 5 118572324 118572324 single base substitution G A intron_variant BRCA-US 5 118454657 118454657 single base substitution G C intron_variant BRCA-US 5 118454657 118454657 single base substitution G C missense_variant K297N 891G>C BRCA-US 5 118464937 118464937 single base substitution G A exon_variant BRCA-US 5 118464937 118464937 single base substitution G A synonymous_variant L378L 1134G>A BRCA-US 5 118464937 118464937 single base substitution G A upstream_gene_variant BRCA-US 5 118465026 118465026 deletion of <=200bp T - exon_variant BRCA-US 5 118465026 118465026 deletion of <=200bp T - frameshift_variant V408 BRCA-US 5 118465026 118465026 deletion of <=200bp T - upstream_gene_variant BRCA-US 5 118465089 118465089 single base substitution C A downstream_gene_variant BRCA-US 5 118465089 118465089 single base substitution C A exon_variant BRCA-US 5 118465089 118465089 single base substitution C A missense_variant S429Y 1286C>A BRCA-US 5 118465089 118465089 single base substitution C A upstream_gene_variant BRCA-US 5 118468832 118468832 single base substitution G A downstream_gene_variant BRCA-US 5 118468832 118468832 single base substitution G A exon_variant BRCA-US 5 118468832 118468832 single base substitution G A missense_variant D441N 1321G>A BRCA-US 5 118468832 118468832 single base substitution G A upstream_gene_variant BRCA-US 5 118479553 118479553 single base substitution C G exon_variant BRCA-US 5 118479553 118479553 single base substitution C G synonymous_variant V798V 2394C>G BRCA-US 5 118480270 118480270 single base substitution G A exon_variant BRCA-US 5 118480270 118480270 single base substitution G A missense_variant D836N 2506G>A BRCA-US 5 118482538 118482538 single base substitution C G exon_variant BRCA-US 5 118482538 118482538 single base substitution C G stop_gained S859* 2576C>G BRCA-US 5 118484655 118484655 single base substitution A G downstream_gene_variant BRCA-US 5 118484655 118484655 single base substitution A G missense_variant R1045G 3133A>G BRCA-US 5 118485161 118485161 single base substitution A C downstream_gene_variant BRCA-US 5 118485161 118485161 single base substitution A C synonymous_variant P1213P 3639A>C BRCA-US 5 118485468 118485468 single base substitution C T downstream_gene_variant BRCA-US 5 118485468 118485468 single base substitution C T missense_variant H1316Y 3946C>T BRCA-US 5 118487625 118487625 single base substitution T G downstream_gene_variant BRCA-US 5 118487625 118487625 single base substitution T G splice_region_variant BRCA-US 5 118500331 118500331 single base substitution G A stop_gained W1611* 4832G>A BRCA-US 5 118500331 118500331 single base substitution G A upstream_gene_variant BRCA-US 5 118502316 118502316 deletion of <=200bp A - frameshift_variant E1659 BRCA-US 5 118502316 118502316 deletion of <=200bp A - upstream_gene_variant BRCA-US 5 118506932 118506932 single base substitution C A downstream_gene_variant BRCA-US 5 118506932 118506932 single base substitution C A exon_variant BRCA-US 5 118506932 118506932 single base substitution C A missense_variant S2149Y 6446C>A BRCA-US 5 118513861 118513861 single base substitution G T stop_gained E2353* 7057G>T BRCA-US 5 118525430 118525430 single base substitution A G missense_variant K2388R 7163A>G BRCA-US 5 118529541 118529541 single base substitution C G missense_variant Q2445E 7333C>G BRCA-US 5 118529541 118529541 single base substitution C G upstream_gene_variant BRCA-US 5 118542574 118542574 single base substitution G T exon_variant BRCA-US 5 118542574 118542574 single base substitution G T intron_variant BRCA-US 5 118542574 118542574 single base substitution G T stop_gained E2637* 7909G>T BRCA-US 5 118569138 118569138 single base substitution G C exon_variant BRCA-US 5 118569138 118569138 single base substitution G C intron_variant BRCA-US 5 118569138 118569138 single base substitution G C missense_variant M2793I 8379G>C BRCA-US 5 118569138 118569138 single base substitution G C missense_variant M2814I 8442G>C BRCA-US 5 118569138 118569138 single base substitution G C upstream_gene_variant BRCA-US 5 118573104 118573104 single base substitution T C exon_variant BRCA-US 5 118573104 118573104 single base substitution T C missense_variant Y2831H 8491T>C BRCA-US 5 118573104 118573104 single base substitution T C missense_variant Y2852H 8554T>C BRCA-US 5 118576144 118576144 single base substitution A C downstream_gene_variant BRCA-US 5 118576144 118576144 single base substitution A C exon_variant BRCA-US 5 118576144 118576144 single base substitution A C synonymous_variant A2873A 8619A>C BRCA-US 5 118576144 118576144 single base substitution A C synonymous_variant A2894A 8682A>C BRCA-US 5 118582789 118582789 single base substitution G C exon_variant BRCA-US 5 118582789 118582789 single base substitution G C missense_variant E2987Q 8959G>C BRCA-US 5 118582789 118582789 single base substitution G C missense_variant E3008Q 9022G>C BTCA-JP 5 118470018 118470018 single base substitution G C downstream_gene_variant BTCA-JP 5 118470018 118470018 single base substitution G C exon_variant BTCA-JP 5 118470018 118470018 single base substitution G C synonymous_variant L770L 2310G>C BTCA-JP 5 118486071 118486071 single base substitution G A downstream_gene_variant BTCA-JP 5 118486071 118486071 single base substitution G A missense_variant A1517T 4549G>A BTCA-JP 5 118502294 118502294 deletion of <=200bp T - intron_variant BTCA-JP 5 118502294 118502294 deletion of <=200bp T - upstream_gene_variant BTCA-JP 5 118529499 118529499 single base substitution A T intron_variant BTCA-JP 5 118529499 118529499 single base substitution A T upstream_gene_variant BTCA-JP 5 118574823 118574823 deletion of <=200bp T - downstream_gene_variant BTCA-JP 5 118574823 118574823 deletion of <=200bp T - intron_variant CESC-US 5 118433713 118433713 single base substitution G A exon_variant CESC-US 5 118433713 118433713 single base substitution G A missense_variant D43N 127G>A CESC-US 5 118433713 118433713 single base substitution G A upstream_gene_variant CESC-US 5 118483070 118483070 single base substitution G T exon_variant CESC-US 5 118483070 118483070 single base substitution G T missense_variant S939I 2816G>T CESC-US 5 118506868 118506868 single base substitution T C downstream_gene_variant CESC-US 5 118506868 118506868 single base substitution T C exon_variant CESC-US 5 118506868 118506868 single base substitution T C missense_variant S2128P 6382T>C CESC-US 5 118560455 118560455 single base substitution C G exon_variant CESC-US 5 118560455 118560455 single base substitution C G missense_variant L2756V 8266C>G CESC-US 5 118560455 118560455 single base substitution C G missense_variant L2777V 8329C>G CESC-US 5 118584139 118584139 single base substitution G C 3_prime_UTR_variant CESC-US 5 118584139 118584139 single base substitution G C downstream_gene_variant CESC-US 5 118584139 118584139 single base substitution G C exon_variant CLLE-ES 5 118451846 118451846 single base substitution T C splice_region_variant CLLE-ES 5 118453319 118453319 single base substitution G C intron_variant CLLE-ES 5 118457590 118457590 single base substitution C A intron_variant CLLE-ES 5 118463015 118463015 single base substitution C A intron_variant CLLE-ES 5 118463015 118463015 single base substitution C A upstream_gene_variant CLLE-ES 5 118464891 118464891 single base substitution T G intron_variant CLLE-ES 5 118464891 118464891 single base substitution T G upstream_gene_variant CLLE-ES 5 118498082 118498082 single base substitution A G intron_variant CLLE-ES 5 118504745 118504745 single base substitution T A intron_variant CLLE-ES 5 118504745 118504745 single base substitution T A upstream_gene_variant CLLE-ES 5 118511523 118511523 single base substitution G T downstream_gene_variant CLLE-ES 5 118511523 118511523 single base substitution G T intron_variant CLLE-ES 5 118518429 118518429 single base substitution G T intron_variant CLLE-ES 5 118544447 118544447 single base substitution A G downstream_gene_variant CLLE-ES 5 118544447 118544447 single base substitution A G intron_variant CLLE-ES 5 118560010 118560010 single base substitution G A intron_variant COAD-US 5 118433745 118433745 single base substitution T G exon_variant COAD-US 5 118433745 118433745 single base substitution T G synonymous_variant A53A 159T>G COAD-US 5 118433745 118433745 single base substitution T G upstream_gene_variant COAD-US 5 118445871 118445871 single base substitution C G downstream_gene_variant COAD-US 5 118445871 118445871 single base substitution C G exon_variant COAD-US 5 118445871 118445871 single base substitution C G missense_variant S130R 390C>G COAD-US 5 118454522 118454522 single base substitution T C intron_variant COAD-US 5 118454522 118454522 single base substitution T C synonymous_variant C252C 756T>C COAD-US 5 118465111 118465111 single base substitution T C downstream_gene_variant COAD-US 5 118465111 118465111 single base substitution T C exon_variant COAD-US 5 118465111 118465111 single base substitution T C synonymous_variant S436S 1308T>C COAD-US 5 118465111 118465111 single base substitution T C upstream_gene_variant COAD-US 5 118465112 118465112 single base substitution G T downstream_gene_variant COAD-US 5 118465112 118465112 single base substitution G T exon_variant COAD-US 5 118465112 118465112 single base substitution G T missense_variant D437Y 1309G>T COAD-US 5 118465112 118465112 single base substitution G T upstream_gene_variant COAD-US 5 118469808 118469808 single base substitution C A downstream_gene_variant COAD-US 5 118469808 118469808 single base substitution C A missense_variant S730Y 2189C>A COAD-US 5 118469808 118469808 single base substitution C A upstream_gene_variant COAD-US 5 118485123 118485123 single base substitution C T downstream_gene_variant COAD-US 5 118485123 118485123 single base substitution C T stop_gained R1201* 3601C>T COAD-US 5 118485270 118485270 single base substitution G A downstream_gene_variant COAD-US 5 118485270 118485270 single base substitution G A missense_variant V1250I 3748G>A COAD-US 5 118485540 118485540 single base substitution C T downstream_gene_variant COAD-US 5 118485540 118485540 single base substitution C T missense_variant R1340W 4018C>T COAD-US 5 118485646 118485646 single base substitution C T downstream_gene_variant COAD-US 5 118485646 118485646 single base substitution C T missense_variant T1375I 4124C>T COAD-US 5 118487659 118487659 single base substitution C A downstream_gene_variant COAD-US 5 118487659 118487659 single base substitution C A missense_variant L1544I 4630C>A COAD-US 5 118502316 118502316 deletion of <=200bp A - frameshift_variant E1659 COAD-US 5 118502316 118502316 deletion of <=200bp A - upstream_gene_variant COAD-US 5 118502339 118502339 deletion of <=200bp T - frameshift_variant F1667 COAD-US 5 118502339 118502339 deletion of <=200bp T - upstream_gene_variant COAD-US 5 118502354 118502354 single base substitution T G missense_variant F1672V 5014T>G COAD-US 5 118502354 118502354 single base substitution T G upstream_gene_variant COAD-US 5 118506830 118506830 single base substitution A T downstream_gene_variant COAD-US 5 118506830 118506830 single base substitution A T exon_variant COAD-US 5 118506830 118506830 single base substitution A T missense_variant N2115I 6344A>T COAD-US 5 118513711 118513711 single base substitution C T missense_variant L2303F 6907C>T COAD-US 5 118532086 118532086 single base substitution C T missense_variant A2493V 7478C>T COAD-US 5 118532086 118532086 single base substitution C T upstream_gene_variant COAD-US 5 118533608 118533608 single base substitution C A exon_variant COAD-US 5 118533608 118533608 single base substitution C A missense_variant L2568I 7702C>A COAD-US 5 118574737 118574737 single base substitution C T downstream_gene_variant COAD-US 5 118574737 118574737 single base substitution C T exon_variant COAD-US 5 118574737 118574737 single base substitution C T intron_variant COAD-US 5 118574737 118574737 single base substitution C T synonymous_variant S2850S 8550C>T COAD-US 5 118574737 118574737 single base substitution C T synonymous_variant S2871S 8613C>T COAD-US 5 118582888 118582888 deletion of <=200bp A - exon_variant COAD-US 5 118582888 118582888 deletion of <=200bp A - frameshift_variant K3020 COAD-US 5 118582888 118582888 deletion of <=200bp A - frameshift_variant K3041 COCA-CN 5 118371136 118371136 single base substitution T C upstream_gene_variant COCA-CN 5 118405135 118405135 single base substitution C T intron_variant COCA-CN 5 118405135 118405135 single base substitution C T upstream_gene_variant COCA-CN 5 118413583 118413583 single base substitution C T intron_variant COCA-CN 5 118429887 118429887 single base substitution A T intron_variant COCA-CN 5 118435968 118435968 single base substitution T A intron_variant COCA-CN 5 118435968 118435968 single base substitution T A upstream_gene_variant COCA-CN 5 118437692 118437692 single base substitution G T exon_variant COCA-CN 5 118437692 118437692 single base substitution G T missense_variant K92N 276G>T COCA-CN 5 118437692 118437692 single base substitution G T upstream_gene_variant COCA-CN 5 118438136 118438136 single base substitution T C downstream_gene_variant COCA-CN 5 118438136 118438136 single base substitution T C intron_variant COCA-CN 5 118438136 118438136 single base substitution T C upstream_gene_variant COCA-CN 5 118446633 118446633 single base substitution G A intron_variant COCA-CN 5 118469316 118469316 single base substitution C A downstream_gene_variant COCA-CN 5 118469316 118469316 single base substitution C A missense_variant P566H 1697C>A COCA-CN 5 118469316 118469316 single base substitution C A upstream_gene_variant COCA-CN 5 118469400 118469400 single base substitution C T downstream_gene_variant COCA-CN 5 118469400 118469400 single base substitution C T missense_variant T594M 1781C>T COCA-CN 5 118469400 118469400 single base substitution C T upstream_gene_variant COCA-CN 5 118469528 118469528 single base substitution C T downstream_gene_variant COCA-CN 5 118469528 118469528 single base substitution C T missense_variant R637C 1909C>T COCA-CN 5 118469528 118469528 single base substitution C T upstream_gene_variant COCA-CN 5 118479525 118479525 single base substitution A T intron_variant COCA-CN 5 118479562 118479562 single base substitution C A exon_variant COCA-CN 5 118479562 118479562 single base substitution C A synonymous_variant I801I 2403C>A COCA-CN 5 118482549 118482549 single base substitution T C exon_variant COCA-CN 5 118482549 118482549 single base substitution T C missense_variant F863L 2587T>C COCA-CN 5 118482970 118482970 single base substitution G A exon_variant COCA-CN 5 118482970 118482970 single base substitution G A missense_variant E906K 2716G>A COCA-CN 5 118484810 118484810 single base substitution A G downstream_gene_variant COCA-CN 5 118484810 118484810 single base substitution A G synonymous_variant T1096T 3288A>G COCA-CN 5 118484900 118484900 single base substitution A G downstream_gene_variant COCA-CN 5 118484900 118484900 single base substitution A G synonymous_variant L1126L 3378A>G COCA-CN 5 118485422 118485422 single base substitution C T downstream_gene_variant COCA-CN 5 118485422 118485422 single base substitution C T synonymous_variant F1300F 3900C>T COCA-CN 5 118488683 118488683 single base substitution C T intron_variant COCA-CN 5 118502400 118502400 single base substitution C A missense_variant S1687Y 5060C>A COCA-CN 5 118502400 118502400 single base substitution C A upstream_gene_variant COCA-CN 5 118506404 118506404 single base substitution A T downstream_gene_variant COCA-CN 5 118506404 118506404 single base substitution A T missense_variant D1973V 5918A>T COCA-CN 5 118506404 118506404 single base substitution A T upstream_gene_variant COCA-CN 5 118509393 118509393 single base substitution G A downstream_gene_variant COCA-CN 5 118509393 118509393 single base substitution G A intron_variant COCA-CN 5 118555271 118555271 single base substitution T A intron_variant COCA-CN 5 118555997 118555997 single base substitution C T intron_variant COCA-CN 5 118568906 118568906 single base substitution A T intron_variant COCA-CN 5 118568906 118568906 single base substitution A T upstream_gene_variant COCA-CN 5 118569194 118569194 single base substitution T G intron_variant COCA-CN 5 118569194 118569194 single base substitution T G upstream_gene_variant COCA-CN 5 118569456 118569456 single base substitution G T intron_variant COCA-CN 5 118569456 118569456 single base substitution G T upstream_gene_variant COCA-CN 5 118572397 118572397 single base substitution C G exon_variant COCA-CN 5 118572397 118572397 single base substitution C G intron_variant COCA-CN 5 118581593 118581593 single base substitution A T intron_variant COCA-CN 5 118582683 118582683 single base substitution C A intron_variant COCA-CN 5 118587593 118587593 single base substitution G C downstream_gene_variant EOPC-DE 5 118374758 118374758 single base substitution A C intron_variant EOPC-DE 5 118459050 118459050 single base substitution A G intron_variant EOPC-DE 5 118475327 118475327 single base substitution C T intron_variant ESAD-UK 5 118370053 118370053 deletion of <=200bp A - upstream_gene_variant ESAD-UK 5 118371817 118371817 single base substitution T C upstream_gene_variant ESAD-UK 5 118372831 118372831 single base substitution C G upstream_gene_variant ESAD-UK 5 118374945 118374945 single base substitution C T intron_variant ESAD-UK 5 118376503 118376503 single base substitution C T intron_variant ESAD-UK 5 118377090 118377090 single base substitution A T intron_variant ESAD-UK 5 118377261 118377261 single base substitution T A intron_variant ESAD-UK 5 118380658 118380658 single base substitution G A exon_variant ESAD-UK 5 118382638 118382638 deletion of <=200bp A - intron_variant ESAD-UK 5 118383012 118383012 single base substitution A T intron_variant ESAD-UK 5 118386573 118386573 single base substitution C T intron_variant ESAD-UK 5 118387112 118387112 single base substitution C T intron_variant ESAD-UK 5 118387673 118387673 single base substitution G T intron_variant ESAD-UK 5 118387686 118387686 single base substitution C T intron_variant ESAD-UK 5 118387701 118387701 single base substitution C T intron_variant ESAD-UK 5 118392202 118392202 single base substitution A G intron_variant ESAD-UK 5 118395223 118395223 single base substitution T C intron_variant ESAD-UK 5 118397436 118397436 single base substitution A G intron_variant ESAD-UK 5 118397612 118397612 single base substitution C T intron_variant ESAD-UK 5 118398112 118398112 single base substitution C T intron_variant ESAD-UK 5 118400253 118400253 single base substitution A C intron_variant ESAD-UK 5 118400395 118400395 single base substitution C A intron_variant ESAD-UK 5 118400927 118400927 single base substitution C T intron_variant ESAD-UK 5 118401872 118401872 single base substitution A T intron_variant ESAD-UK 5 118402976 118402976 single base substitution C T intron_variant ESAD-UK 5 118402976 118402976 single base substitution C T upstream_gene_variant ESAD-UK 5 118403155 118403155 single base substitution A G intron_variant ESAD-UK 5 118403155 118403155 single base substitution A G upstream_gene_variant ESAD-UK 5 118404143 118404143 single base substitution A T intron_variant ESAD-UK 5 118404143 118404143 single base substitution A T upstream_gene_variant ESAD-UK 5 118406189 118406189 single base substitution C T intron_variant ESAD-UK 5 118406189 118406189 single base substitution C T upstream_gene_variant ESAD-UK 5 118407022 118407022 single base substitution A T intron_variant ESAD-UK 5 118407022 118407022 single base substitution A T upstream_gene_variant ESAD-UK 5 118408055 118408055 single base substitution G T intron_variant ESAD-UK 5 118408224 118408224 insertion of <=200bp - T intron_variant ESAD-UK 5 118410340 118410340 single base substitution G T intron_variant ESAD-UK 5 118413681 118413681 single base substitution C T intron_variant ESAD-UK 5 118414642 118414642 single base substitution T G intron_variant ESAD-UK 5 118415877 118415877 single base substitution C T intron_variant ESAD-UK 5 118416479 118416479 single base substitution C T intron_variant ESAD-UK 5 118419649 118419649 single base substitution A T intron_variant ESAD-UK 5 118420421 118420421 single base substitution G A intron_variant ESAD-UK 5 118421746 118421746 single base substitution A T intron_variant ESAD-UK 5 118426995 118426995 single base substitution A G intron_variant ESAD-UK 5 118427143 118427143 single base substitution G A intron_variant ESAD-UK 5 118427403 118427403 single base substitution C T intron_variant ESAD-UK 5 118428080 118428080 single base substitution G A intron_variant ESAD-UK 5 118428474 118428474 single base substitution T G intron_variant ESAD-UK 5 118433326 118433326 single base substitution G A intron_variant ESAD-UK 5 118433326 118433326 single base substitution G A upstream_gene_variant ESAD-UK 5 118434439 118434439 single base substitution G A intron_variant ESAD-UK 5 118434439 118434439 single base substitution G A upstream_gene_variant ESAD-UK 5 118434888 118434888 single base substitution G T intron_variant ESAD-UK 5 118434888 118434888 single base substitution G T upstream_gene_variant ESAD-UK 5 118435693 118435693 single base substitution C A intron_variant ESAD-UK 5 118435693 118435693 single base substitution C A upstream_gene_variant ESAD-UK 5 118436771 118436771 single base substitution C T intron_variant ESAD-UK 5 118436771 118436771 single base substitution C T upstream_gene_variant ESAD-UK 5 118438621 118438621 single base substitution G A downstream_gene_variant ESAD-UK 5 118438621 118438621 single base substitution G A intron_variant ESAD-UK 5 118438621 118438621 single base substitution G A upstream_gene_variant ESAD-UK 5 118444565 118444565 single base substitution C T downstream_gene_variant ESAD-UK 5 118444565 118444565 single base substitution C T intron_variant ESAD-UK 5 118445461 118445461 single base substitution T C downstream_gene_variant ESAD-UK 5 118445461 118445461 single base substitution T C intron_variant ESAD-UK 5 118445727 118445727 insertion of <=200bp - A downstream_gene_variant ESAD-UK 5 118445727 118445727 insertion of <=200bp - A intron_variant ESAD-UK 5 118445749 118445749 deletion of <=200bp T - downstream_gene_variant ESAD-UK 5 118445749 118445749 deletion of <=200bp T - intron_variant ESAD-UK 5 118445836 118445836 deletion of <=200bp T - downstream_gene_variant ESAD-UK 5 118445836 118445836 deletion of <=200bp T - intron_variant ESAD-UK 5 118446386 118446386 single base substitution A G intron_variant ESAD-UK 5 118447514 118447514 single base substitution A G intron_variant ESAD-UK 5 118448577 118448577 single base substitution G A intron_variant ESAD-UK 5 118449124 118449124 single base substitution G A intron_variant ESAD-UK 5 118451819 118451819 single base substitution C T intron_variant ESAD-UK 5 118458399 118458399 single base substitution G A intron_variant ESAD-UK 5 118458800 118458800 single base substitution G A intron_variant ESAD-UK 5 118461935 118461935 single base substitution G A intron_variant ESAD-UK 5 118461935 118461935 single base substitution G A upstream_gene_variant ESAD-UK 5 118463224 118463224 single base substitution C T intron_variant ESAD-UK 5 118463224 118463224 single base substitution C T upstream_gene_variant ESAD-UK 5 118463252 118463252 single base substitution G A intron_variant ESAD-UK 5 118463252 118463252 single base substitution G A upstream_gene_variant ESAD-UK 5 118464079 118464079 single base substitution G T intron_variant ESAD-UK 5 118464079 118464079 single base substitution G T upstream_gene_variant ESAD-UK 5 118466996 118466996 single base substitution T A downstream_gene_variant ESAD-UK 5 118466996 118466996 single base substitution T A intron_variant ESAD-UK 5 118466996 118466996 single base substitution T A upstream_gene_variant ESAD-UK 5 118471217 118471217 single base substitution T C downstream_gene_variant ESAD-UK 5 118471217 118471217 single base substitution T C intron_variant ESAD-UK 5 118474782 118474782 single base substitution A G intron_variant ESAD-UK 5 118475029 118475029 single base substitution G A intron_variant ESAD-UK 5 118476271 118476271 single base substitution A G intron_variant ESAD-UK 5 118478721 118478721 single base substitution G C intron_variant ESAD-UK 5 118479358 118479358 single base substitution C G intron_variant ESAD-UK 5 118480415 118480415 single base substitution T C intron_variant ESAD-UK 5 118480573 118480573 single base substitution T A intron_variant ESAD-UK 5 118481204 118481204 single base substitution C G intron_variant ESAD-UK 5 118481864 118481864 single base substitution C T intron_variant ESAD-UK 5 118483731 118483731 single base substitution C T downstream_gene_variant ESAD-UK 5 118483731 118483731 single base substitution C T intron_variant ESAD-UK 5 118489747 118489747 single base substitution T G intron_variant ESAD-UK 5 118493696 118493696 single base substitution A G intron_variant ESAD-UK 5 118493737 118493737 single base substitution C T intron_variant ESAD-UK 5 118495162 118495162 single base substitution C A intron_variant ESAD-UK 5 118495734 118495734 single base substitution C G intron_variant ESAD-UK 5 118496274 118496274 single base substitution C G intron_variant ESAD-UK 5 118498540 118498540 single base substitution T C intron_variant ESAD-UK 5 118498540 118498540 single base substitution T C upstream_gene_variant ESAD-UK 5 118500326 118500326 single base substitution G C synonymous_variant G1609G 4827G>C ESAD-UK 5 118500326 118500326 single base substitution G C upstream_gene_variant ESAD-UK 5 118500751 118500751 single base substitution T C intron_variant ESAD-UK 5 118500751 118500751 single base substitution T C upstream_gene_variant ESAD-UK 5 118503701 118503701 deletion of <=200bp T - intron_variant ESAD-UK 5 118503701 118503701 deletion of <=200bp T - upstream_gene_variant ESAD-UK 5 118507270 118507270 single base substitution T C downstream_gene_variant ESAD-UK 5 118507270 118507270 single base substitution T C intron_variant ESAD-UK 5 118509776 118509776 single base substitution C A downstream_gene_variant ESAD-UK 5 118509776 118509776 single base substitution C A intron_variant ESAD-UK 5 118513104 118513104 single base substitution C T missense_variant P2271S 6811C>T ESAD-UK 5 118513473 118513473 single base substitution G T intron_variant ESAD-UK 5 118514054 118514054 single base substitution G A intron_variant ESAD-UK 5 118515662 118515662 single base substitution A G intron_variant ESAD-UK 5 118517485 118517485 single base substitution C T intron_variant ESAD-UK 5 118520719 118520719 single base substitution A G intron_variant ESAD-UK 5 118524903 118524903 single base substitution G A intron_variant ESAD-UK 5 118525842 118525842 single base substitution G C intron_variant ESAD-UK 5 118526265 118526265 single base substitution T A intron_variant ESAD-UK 5 118526597 118526600 deletion of <=200bp AGTT - intron_variant ESAD-UK 5 118527241 118527241 single base substitution G T intron_variant ESAD-UK 5 118528873 118528873 single base substitution T G intron_variant ESAD-UK 5 118528873 118528873 single base substitution T G upstream_gene_variant ESAD-UK 5 118529017 118529017 single base substitution T C intron_variant ESAD-UK 5 118529017 118529017 single base substitution T C upstream_gene_variant ESAD-UK 5 118532318 118532318 single base substitution C A intron_variant ESAD-UK 5 118532318 118532318 single base substitution C A upstream_gene_variant ESAD-UK 5 118533243 118533243 single base substitution G T intron_variant ESAD-UK 5 118533243 118533243 single base substitution G T upstream_gene_variant ESAD-UK 5 118533299 118533299 single base substitution C T intron_variant ESAD-UK 5 118533299 118533299 single base substitution C T upstream_gene_variant ESAD-UK 5 118534318 118534318 deletion of <=200bp A - intron_variant ESAD-UK 5 118537946 118537946 single base substitution G C intron_variant ESAD-UK 5 118537946 118537946 single base substitution G C upstream_gene_variant ESAD-UK 5 118538578 118538578 insertion of <=200bp - A intron_variant ESAD-UK 5 118538578 118538578 insertion of <=200bp - A upstream_gene_variant ESAD-UK 5 118538942 118538942 single base substitution A C intron_variant ESAD-UK 5 118538942 118538942 single base substitution A C upstream_gene_variant ESAD-UK 5 118539501 118539501 single base substitution T G intron_variant ESAD-UK 5 118539501 118539501 single base substitution T G upstream_gene_variant ESAD-UK 5 118541371 118541371 single base substitution T C intron_variant ESAD-UK 5 118541371 118541371 single base substitution T C upstream_gene_variant ESAD-UK 5 118542262 118542262 single base substitution G A exon_variant ESAD-UK 5 118542262 118542262 single base substitution G A intron_variant ESAD-UK 5 118547320 118547320 single base substitution T A downstream_gene_variant ESAD-UK 5 118547320 118547320 single base substitution T A intron_variant ESAD-UK 5 118548492 118548492 single base substitution T A intron_variant ESAD-UK 5 118555259 118555259 single base substitution A T intron_variant ESAD-UK 5 118556691 118556691 single base substitution C G exon_variant ESAD-UK 5 118556691 118556691 single base substitution C G missense_variant T2710R 8129C>G ESAD-UK 5 118556691 118556691 single base substitution C G missense_variant T2731R 8192C>G ESAD-UK 5 118556800 118556800 single base substitution T C intron_variant ESAD-UK 5 118557137 118557137 single base substitution G A intron_variant ESAD-UK 5 118557530 118557530 single base substitution G A intron_variant ESAD-UK 5 118564738 118564738 single base substitution G T intron_variant ESAD-UK 5 118567613 118567613 single base substitution C T intron_variant ESAD-UK 5 118567613 118567613 single base substitution C T upstream_gene_variant ESAD-UK 5 118567662 118567662 single base substitution C T intron_variant ESAD-UK 5 118567662 118567662 single base substitution C T upstream_gene_variant ESAD-UK 5 118568071 118568071 single base substitution T G intron_variant ESAD-UK 5 118568071 118568071 single base substitution T G upstream_gene_variant ESAD-UK 5 118569658 118569658 single base substitution T C intron_variant ESAD-UK 5 118569658 118569658 single base substitution T C upstream_gene_variant ESAD-UK 5 118573844 118573844 deletion of <=200bp T - downstream_gene_variant ESAD-UK 5 118573844 118573844 deletion of <=200bp T - intron_variant ESAD-UK 5 118574845 118574845 single base substitution T A downstream_gene_variant ESAD-UK 5 118574845 118574845 single base substitution T A intron_variant ESAD-UK 5 118574940 118574940 single base substitution A C downstream_gene_variant ESAD-UK 5 118574940 118574940 single base substitution A C intron_variant ESAD-UK 5 118575943 118575943 single base substitution T A downstream_gene_variant ESAD-UK 5 118575943 118575943 single base substitution T A intron_variant ESAD-UK 5 118579137 118579137 single base substitution C T intron_variant ESAD-UK 5 118584562 118584562 single base substitution A T 3_prime_UTR_variant ESAD-UK 5 118584562 118584562 single base substitution A T downstream_gene_variant ESAD-UK 5 118584562 118584562 single base substitution A T exon_variant ESAD-UK 5 118585076 118585076 single base substitution C T downstream_gene_variant ESAD-UK 5 118586797 118586797 single base substitution C T downstream_gene_variant ESCA-CN 5 118407269 118407269 single base substitution A T exon_variant ESCA-CN 5 118407269 118407269 single base substitution A T intron_variant ESCA-CN 5 118407269 118407269 single base substitution A T missense_variant N2I 5A>T ESCA-CN 5 118479524 118479524 single base substitution T G intron_variant ESCA-CN 5 118500255 118500255 single base substitution C A missense_variant L1586M 4756C>A ESCA-CN 5 118500255 118500255 single base substitution C A upstream_gene_variant ESCA-CN 5 118569044 118569044 single base substitution G A exon_variant ESCA-CN 5 118569044 118569044 single base substitution G A intron_variant ESCA-CN 5 118569044 118569044 single base substitution G A missense_variant G2762E 8285G>A ESCA-CN 5 118569044 118569044 single base substitution G A missense_variant G2783E 8348G>A ESCA-CN 5 118569044 118569044 single base substitution G A upstream_gene_variant GBM-US 5 118503534 118503534 single base substitution A G exon_variant GBM-US 5 118503534 118503534 single base substitution A G missense_variant I1791M 5373A>G GBM-US 5 118503534 118503534 single base substitution A G upstream_gene_variant KIRC-US 5 118456679 118456679 single base substitution A T exon_variant KIRC-US 5 118456679 118456679 single base substitution A T missense_variant H316L 947A>T KIRC-US 5 118484562 118484562 single base substitution A G downstream_gene_variant KIRC-US 5 118484562 118484562 single base substitution A G missense_variant N1014D 3040A>G KIRC-US 5 118502399 118502399 single base substitution T G missense_variant S1687A 5059T>G KIRC-US 5 118502399 118502399 single base substitution T G upstream_gene_variant KIRC-US 5 118502425 118502425 single base substitution A G synonymous_variant E1695E 5085A>G KIRC-US 5 118502425 118502425 single base substitution A G upstream_gene_variant KIRC-US 5 118506224 118506224 single base substitution A T exon_variant KIRC-US 5 118506224 118506224 single base substitution A T missense_variant D1913V 5738A>T KIRC-US 5 118506224 118506224 single base substitution A T upstream_gene_variant KIRC-US 5 118506472 118506472 single base substitution A G downstream_gene_variant KIRC-US 5 118506472 118506472 single base substitution A G exon_variant KIRC-US 5 118506472 118506472 single base substitution A G missense_variant K1996E 5986A>G KIRC-US 5 118560454 118560454 single base substitution T C exon_variant KIRC-US 5 118560454 118560454 single base substitution T C synonymous_variant T2755T 8265T>C KIRC-US 5 118560454 118560454 single base substitution T C synonymous_variant T2776T 8328T>C KIRP-US 5 118451949 118451949 single base substitution A T exon_variant KIRP-US 5 118451949 118451949 single base substitution A T missense_variant I221F 661A>T KIRP-US 5 118479556 118479556 single base substitution T C exon_variant KIRP-US 5 118479556 118479556 single base substitution T C synonymous_variant F799F 2397T>C KIRP-US 5 118500212 118500212 insertion of <=200bp - AGTCATTT frameshift_variant T1571TVI? KIRP-US 5 118500212 118500212 insertion of <=200bp - AGTCATTT upstream_gene_variant KIRP-US 5 118525502 118525502 single base substitution C G missense_variant P2412R 7235C>G KIRP-US 5 118525523 118525523 insertion of <=200bp - G frameshift_variant A2419G? KIRP-US 5 118556763 118556765 deletion of <=200bp GAG - exon_variant KIRP-US 5 118556763 118556765 deletion of <=200bp GAG - inframe_deletion RG2734R KIRP-US 5 118556763 118556765 deletion of <=200bp GAG - inframe_deletion RG2755R LAML-KR 5 118372627 118372627 single base substitution G A upstream_gene_variant LAML-KR 5 118382078 118382078 single base substitution C T intron_variant LAML-KR 5 118384977 118384977 single base substitution A C intron_variant LAML-KR 5 118444381 118444381 single base substitution G C downstream_gene_variant LAML-KR 5 118444381 118444381 single base substitution G C intron_variant LAML-KR 5 118444389 118444389 single base substitution A G downstream_gene_variant LAML-KR 5 118444389 118444389 single base substitution A G intron_variant LAML-KR 5 118457629 118457629 single base substitution G A intron_variant LAML-KR 5 118458055 118458055 single base substitution G T intron_variant LAML-KR 5 118458081 118458081 single base substitution A G intron_variant LGG-US 5 118479596 118479598 deletion of <=200bp ATT - exon_variant LGG-US 5 118479596 118479598 deletion of <=200bp ATT - inframe_deletion I813 LGG-US 5 118485663 118485663 single base substitution A T downstream_gene_variant LGG-US 5 118485663 118485663 single base substitution A T missense_variant S1381C 4141A>T LICA-CN 5 118440935 118440935 single base substitution A G downstream_gene_variant LICA-CN 5 118440935 118440935 single base substitution A G exon_variant LICA-CN 5 118440935 118440935 single base substitution A G missense_variant I116V 346A>G LICA-CN 5 118480254 118480254 single base substitution T G exon_variant LICA-CN 5 118480254 118480254 single base substitution T G synonymous_variant L830L 2490T>G LICA-CN 5 118484603 118484603 single base substitution A T downstream_gene_variant LICA-CN 5 118484603 118484603 single base substitution A T synonymous_variant P1027P 3081A>T LICA-CN 5 118574698 118574698 single base substitution T C downstream_gene_variant LICA-CN 5 118574698 118574698 single base substitution T C exon_variant LICA-CN 5 118574698 118574698 single base substitution T C intron_variant LICA-CN 5 118574698 118574698 single base substitution T C synonymous_variant H2837H 8511T>C LICA-CN 5 118574698 118574698 single base substitution T C synonymous_variant H2858H 8574T>C LICA-FR 5 118383062 118383068 deletion of <=200bp AAAAAAA - intron_variant LICA-FR 5 118388118 118388119 deletion of <=200bp AA - intron_variant LICA-FR 5 118395189 118395189 single base substitution C T intron_variant LICA-FR 5 118395746 118395746 single base substitution T C intron_variant LICA-FR 5 118405244 118405244 single base substitution C T intron_variant LICA-FR 5 118405244 118405244 single base substitution C T upstream_gene_variant LICA-FR 5 118405248 118405248 single base substitution A T intron_variant LICA-FR 5 118405248 118405248 single base substitution A T upstream_gene_variant LICA-FR 5 118430234 118430234 single base substitution C T intron_variant LICA-FR 5 118435969 118435969 insertion of <=200bp - A intron_variant LICA-FR 5 118435969 118435969 insertion of <=200bp - A upstream_gene_variant LICA-FR 5 118436549 118436549 single base substitution A G intron_variant LICA-FR 5 118436549 118436549 single base substitution A G upstream_gene_variant LICA-FR 5 118446197 118446197 single base substitution G A intron_variant LICA-FR 5 118456820 118456820 single base substitution T G exon_variant LICA-FR 5 118456820 118456820 single base substitution T G missense_variant I363S 1088T>G LICA-FR 5 118463045 118463045 insertion of <=200bp - T intron_variant LICA-FR 5 118463045 118463045 insertion of <=200bp - T upstream_gene_variant LICA-FR 5 118469843 118469843 single base substitution C T downstream_gene_variant LICA-FR 5 118469843 118469843 single base substitution C T synonymous_variant L742L 2224C>T LICA-FR 5 118469843 118469843 single base substitution C T upstream_gene_variant LICA-FR 5 118503353 118503353 single base substitution A G exon_variant LICA-FR 5 118503353 118503353 single base substitution A G missense_variant Y1731C 5192A>G LICA-FR 5 118503353 118503353 single base substitution A G upstream_gene_variant LICA-FR 5 118512156 118512156 single base substitution A G downstream_gene_variant LICA-FR 5 118512156 118512156 single base substitution A G intron_variant LICA-FR 5 118518175 118518175 single base substitution G T intron_variant LICA-FR 5 118518918 118518918 single base substitution T C intron_variant LICA-FR 5 118532485 118532485 single base substitution G A intron_variant LICA-FR 5 118532485 118532485 single base substitution G A upstream_gene_variant LICA-FR 5 118538106 118538106 single base substitution C T intron_variant LICA-FR 5 118538106 118538106 single base substitution C T upstream_gene_variant LICA-FR 5 118538169 118538169 single base substitution C A intron_variant LICA-FR 5 118538169 118538169 single base substitution C A upstream_gene_variant LICA-FR 5 118545044 118545044 insertion of <=200bp - T downstream_gene_variant LICA-FR 5 118545044 118545044 insertion of <=200bp - T intron_variant LIHC-US 5 118407346 118407346 single base substitution T G exon_variant LIHC-US 5 118407346 118407346 single base substitution T G intron_variant LIHC-US 5 118407346 118407346 single base substitution T G missense_variant F28V 82T>G LIHC-US 5 118469442 118469442 single base substitution T A downstream_gene_variant LIHC-US 5 118469442 118469442 single base substitution T A missense_variant L608Q 1823T>A LIHC-US 5 118469442 118469442 single base substitution T A upstream_gene_variant LIHC-US 5 118484603 118484603 single base substitution A G downstream_gene_variant LIHC-US 5 118484603 118484603 single base substitution A G synonymous_variant P1027P 3081A>G LIHC-US 5 118485268 118485268 single base substitution C T downstream_gene_variant LIHC-US 5 118485268 118485268 single base substitution C T missense_variant P1249L 3746C>T LIHC-US 5 118513717 118513717 single base substitution A T missense_variant N2305Y 6913A>T LIHC-US 5 118569090 118569090 single base substitution A G exon_variant LIHC-US 5 118569090 118569090 single base substitution A G intron_variant LIHC-US 5 118569090 118569090 single base substitution A G synonymous_variant Q2777Q 8331A>G LIHC-US 5 118569090 118569090 single base substitution A G synonymous_variant Q2798Q 8394A>G LIHC-US 5 118569090 118569090 single base substitution A G upstream_gene_variant LINC-JP 5 118373844 118373844 single base substitution G A intron_variant LINC-JP 5 118381938 118381938 single base substitution T G intron_variant LINC-JP 5 118383172 118383172 single base substitution C G intron_variant LINC-JP 5 118400848 118400848 single base substitution C T intron_variant LINC-JP 5 118407139 118407139 single base substitution C T intron_variant LINC-JP 5 118407139 118407139 single base substitution C T upstream_gene_variant LINC-JP 5 118415451 118415451 single base substitution C A intron_variant LINC-JP 5 118424629 118424629 single base substitution A G intron_variant LINC-JP 5 118426351 118426351 single base substitution G A intron_variant LINC-JP 5 118433586 118433586 single base substitution G A intron_variant LINC-JP 5 118433586 118433586 single base substitution G A upstream_gene_variant LINC-JP 5 118434172 118434172 single base substitution A T intron_variant LINC-JP 5 118434172 118434172 single base substitution A T upstream_gene_variant LINC-JP 5 118437525 118437525 single base substitution T C intron_variant LINC-JP 5 118437525 118437525 single base substitution T C upstream_gene_variant LINC-JP 5 118445845 118445845 single base substitution G A downstream_gene_variant LINC-JP 5 118445845 118445845 single base substitution G A splice_acceptor_variant LINC-JP 5 118445877 118445877 single base substitution G A downstream_gene_variant LINC-JP 5 118445877 118445877 single base substitution G A exon_variant LINC-JP 5 118445877 118445877 single base substitution G A synonymous_variant L132L 396G>A LINC-JP 5 118456518 118456518 single base substitution A G intron_variant LINC-JP 5 118456873 118456873 single base substitution A G intron_variant LINC-JP 5 118461720 118461720 single base substitution T C intron_variant LINC-JP 5 118461720 118461720 single base substitution T C upstream_gene_variant LINC-JP 5 118469051 118469051 single base substitution T C downstream_gene_variant LINC-JP 5 118469051 118469051 single base substitution T C exon_variant LINC-JP 5 118469051 118469051 single base substitution T C missense_variant Y514H 1540T>C LINC-JP 5 118469051 118469051 single base substitution T C upstream_gene_variant LINC-JP 5 118469165 118469165 single base substitution T G downstream_gene_variant LINC-JP 5 118469165 118469165 single base substitution T G exon_variant LINC-JP 5 118469165 118469165 single base substitution T G intron_variant LINC-JP 5 118469165 118469165 single base substitution T G upstream_gene_variant LINC-JP 5 118469986 118469986 single base substitution G A downstream_gene_variant LINC-JP 5 118469986 118469986 single base substitution G A exon_variant LINC-JP 5 118469986 118469986 single base substitution G A missense_variant A760T 2278G>A LINC-JP 5 118470407 118470407 single base substitution A G downstream_gene_variant LINC-JP 5 118470407 118470407 single base substitution A G intron_variant LINC-JP 5 118479505 118479505 single base substitution A G intron_variant LINC-JP 5 118479657 118479657 insertion of <=200bp - A intron_variant LINC-JP 5 118487821 118487821 single base substitution G A downstream_gene_variant LINC-JP 5 118487821 118487821 single base substitution G A intron_variant LINC-JP 5 118493308 118493308 single base substitution C T intron_variant LINC-JP 5 118495827 118495827 single base substitution G A intron_variant LINC-JP 5 118500738 118500738 single base substitution A G intron_variant LINC-JP 5 118500738 118500738 single base substitution A G upstream_gene_variant LINC-JP 5 118503383 118503383 single base substitution A G exon_variant LINC-JP 5 118503383 118503383 single base substitution A G missense_variant Y1741C 5222A>G LINC-JP 5 118503383 118503383 single base substitution A G upstream_gene_variant LINC-JP 5 118505733 118505733 single base substitution C G intron_variant LINC-JP 5 118505733 118505733 single base substitution C G upstream_gene_variant LINC-JP 5 118506203 118506205 deletion of <=200bp CTT - exon_variant LINC-JP 5 118506203 118506205 deletion of <=200bp CTT - inframe_deletion PS1906P LINC-JP 5 118506203 118506205 deletion of <=200bp CTT - upstream_gene_variant LINC-JP 5 118514121 118514121 single base substitution T G intron_variant LINC-JP 5 118516486 118516486 single base substitution A G intron_variant LINC-JP 5 118518054 118518054 single base substitution A G intron_variant LINC-JP 5 118533611 118533611 single base substitution C A exon_variant LINC-JP 5 118533611 118533611 single base substitution C A missense_variant R2569S 7705C>A LINC-JP 5 118542705 118542705 single base substitution C G downstream_gene_variant LINC-JP 5 118542705 118542705 single base substitution C G intron_variant LINC-JP 5 118548001 118548001 single base substitution A C intron_variant LINC-JP 5 118552590 118552590 single base substitution A T splice_region_variant LINC-JP 5 118556257 118556257 single base substitution G A exon_variant LINC-JP 5 118556257 118556257 single base substitution G A missense_variant V2681I 8041G>A LINC-JP 5 118556257 118556257 single base substitution G A missense_variant V2702I 8104G>A LINC-JP 5 118559327 118559327 single base substitution C G intron_variant LINC-JP 5 118571440 118571440 single base substitution A C intron_variant LINC-JP 5 118571440 118571440 single base substitution A C upstream_gene_variant LINC-JP 5 118575670 118575670 single base substitution C A downstream_gene_variant LINC-JP 5 118575670 118575670 single base substitution C A intron_variant LINC-JP 5 118581593 118581593 deletion of <=200bp A - intron_variant LINC-JP 5 118584339 118584339 single base substitution A G 3_prime_UTR_variant LINC-JP 5 118584339 118584339 single base substitution A G downstream_gene_variant LINC-JP 5 118584339 118584339 single base substitution A G exon_variant LIRI-JP 5 118371213 118371213 single base substitution C T upstream_gene_variant LIRI-JP 5 118371680 118371680 single base substitution G C upstream_gene_variant LIRI-JP 5 118374605 118374605 single base substitution T A intron_variant LIRI-JP 5 118375300 118375300 single base substitution T G intron_variant LIRI-JP 5 118377585 118377585 single base substitution T C intron_variant LIRI-JP 5 118380560 118380560 single base substitution T C splice_region_variant LIRI-JP 5 118382137 118382137 single base substitution G T intron_variant LIRI-JP 5 118385515 118385515 single base substitution G C intron_variant LIRI-JP 5 118386240 118386240 single base substitution T A intron_variant LIRI-JP 5 118389660 118389660 single base substitution C A intron_variant LIRI-JP 5 118391034 118391034 single base substitution A G intron_variant LIRI-JP 5 118394385 118394385 single base substitution C G intron_variant LIRI-JP 5 118396807 118396807 single base substitution T C intron_variant LIRI-JP 5 118399901 118399901 single base substitution T C intron_variant LIRI-JP 5 118402161 118402161 single base substitution C T intron_variant LIRI-JP 5 118402161 118402161 single base substitution C T upstream_gene_variant LIRI-JP 5 118408483 118408483 single base substitution G A intron_variant LIRI-JP 5 118410877 118410877 single base substitution A G intron_variant LIRI-JP 5 118411197 118411197 single base substitution G A intron_variant LIRI-JP 5 118414130 118414130 insertion of <=200bp - AT intron_variant LIRI-JP 5 118414813 118414813 single base substitution A G intron_variant LIRI-JP 5 118415607 118415607 single base substitution G A intron_variant LIRI-JP 5 118418888 118418888 single base substitution C G intron_variant LIRI-JP 5 118419010 118419010 single base substitution A G intron_variant LIRI-JP 5 118419860 118419860 single base substitution G A intron_variant LIRI-JP 5 118421624 118421624 single base substitution C T intron_variant LIRI-JP 5 118423724 118423724 single base substitution T A intron_variant LIRI-JP 5 118426583 118426583 single base substitution C A intron_variant LIRI-JP 5 118426878 118426878 single base substitution C T intron_variant LIRI-JP 5 118428573 118428573 single base substitution A G intron_variant LIRI-JP 5 118429519 118429519 single base substitution G A intron_variant LIRI-JP 5 118429547 118429547 single base substitution A C intron_variant LIRI-JP 5 118429889 118429889 single base substitution A T intron_variant LIRI-JP 5 118430443 118430443 single base substitution A G intron_variant LIRI-JP 5 118437744 118437744 single base substitution T G exon_variant LIRI-JP 5 118437744 118437744 single base substitution T G intron_variant LIRI-JP 5 118437744 118437744 single base substitution T G upstream_gene_variant LIRI-JP 5 118442207 118442207 single base substitution C G downstream_gene_variant LIRI-JP 5 118442207 118442207 single base substitution C G intron_variant LIRI-JP 5 118442716 118442716 single base substitution C A downstream_gene_variant LIRI-JP 5 118442716 118442716 single base substitution C A intron_variant LIRI-JP 5 118443090 118443090 single base substitution A G downstream_gene_variant LIRI-JP 5 118443090 118443090 single base substitution A G intron_variant LIRI-JP 5 118446374 118446374 single base substitution A T intron_variant LIRI-JP 5 118455846 118455846 single base substitution G T intron_variant LIRI-JP 5 118455847 118455847 single base substitution G T intron_variant LIRI-JP 5 118460465 118460465 single base substitution T C intron_variant LIRI-JP 5 118460465 118460465 single base substitution T C upstream_gene_variant LIRI-JP 5 118462842 118462842 single base substitution G A intron_variant LIRI-JP 5 118462842 118462842 single base substitution G A upstream_gene_variant LIRI-JP 5 118464105 118464105 single base substitution C T intron_variant LIRI-JP 5 118464105 118464105 single base substitution C T upstream_gene_variant LIRI-JP 5 118464886 118464886 single base substitution A G intron_variant LIRI-JP 5 118464886 118464886 single base substitution A G upstream_gene_variant LIRI-JP 5 118467099 118467099 single base substitution A G downstream_gene_variant LIRI-JP 5 118467099 118467099 single base substitution A G intron_variant LIRI-JP 5 118467099 118467099 single base substitution A G upstream_gene_variant LIRI-JP 5 118468464 118468464 single base substitution T C downstream_gene_variant LIRI-JP 5 118468464 118468464 single base substitution T C intron_variant LIRI-JP 5 118468464 118468464 single base substitution T C upstream_gene_variant LIRI-JP 5 118469294 118469294 single base substitution A G downstream_gene_variant LIRI-JP 5 118469294 118469294 single base substitution A G missense_variant I559V 1675A>G LIRI-JP 5 118469294 118469294 single base substitution A G upstream_gene_variant LIRI-JP 5 118469981 118469981 single base substitution C T downstream_gene_variant LIRI-JP 5 118469981 118469981 single base substitution C T exon_variant LIRI-JP 5 118469981 118469981 single base substitution C T missense_variant P758L 2273C>T LIRI-JP 5 118471093 118471093 single base substitution A T downstream_gene_variant LIRI-JP 5 118471093 118471093 single base substitution A T intron_variant LIRI-JP 5 118471289 118471289 single base substitution G A downstream_gene_variant LIRI-JP 5 118471289 118471289 single base substitution G A intron_variant LIRI-JP 5 118473132 118473132 single base substitution A G downstream_gene_variant LIRI-JP 5 118473132 118473132 single base substitution A G intron_variant LIRI-JP 5 118474150 118474150 single base substitution C G downstream_gene_variant LIRI-JP 5 118474150 118474150 single base substitution C G intron_variant LIRI-JP 5 118475964 118475964 single base substitution A G intron_variant LIRI-JP 5 118479014 118479014 single base substitution A G intron_variant LIRI-JP 5 118479528 118479528 single base substitution A T splice_region_variant LIRI-JP 5 118479654 118479654 single base substitution A G intron_variant LIRI-JP 5 118481318 118481318 single base substitution G A intron_variant LIRI-JP 5 118483248 118483248 deletion of <=200bp T - exon_variant LIRI-JP 5 118483248 118483248 deletion of <=200bp T - intron_variant LIRI-JP 5 118483371 118483371 single base substitution A G downstream_gene_variant LIRI-JP 5 118483371 118483371 single base substitution A G intron_variant LIRI-JP 5 118483732 118483732 single base substitution C T downstream_gene_variant LIRI-JP 5 118483732 118483732 single base substitution C T intron_variant LIRI-JP 5 118483875 118483875 single base substitution A G downstream_gene_variant LIRI-JP 5 118483875 118483875 single base substitution A G intron_variant LIRI-JP 5 118485038 118485038 single base substitution A G downstream_gene_variant LIRI-JP 5 118485038 118485038 single base substitution A G synonymous_variant V1172V 3516A>G LIRI-JP 5 118490167 118490167 single base substitution T C intron_variant LIRI-JP 5 118490208 118490208 single base substitution G T intron_variant LIRI-JP 5 118494919 118494919 single base substitution C T intron_variant LIRI-JP 5 118496579 118496579 single base substitution T G intron_variant LIRI-JP 5 118498400 118498400 single base substitution C G intron_variant LIRI-JP 5 118498400 118498400 single base substitution C G upstream_gene_variant LIRI-JP 5 118501119 118501119 single base substitution G A intron_variant LIRI-JP 5 118501119 118501119 single base substitution G A upstream_gene_variant LIRI-JP 5 118506324 118506324 single base substitution C T downstream_gene_variant LIRI-JP 5 118506324 118506324 single base substitution C T synonymous_variant S1946S 5838C>T LIRI-JP 5 118506324 118506324 single base substitution C T upstream_gene_variant LIRI-JP 5 118506329 118506329 single base substitution T A downstream_gene_variant LIRI-JP 5 118506329 118506329 single base substitution T A missense_variant L1948H 5843T>A LIRI-JP 5 118506329 118506329 single base substitution T A upstream_gene_variant LIRI-JP 5 118507187 118507187 single base substitution A C downstream_gene_variant LIRI-JP 5 118507187 118507187 single base substitution A C intron_variant LIRI-JP 5 118508235 118508235 single base substitution T G downstream_gene_variant LIRI-JP 5 118508235 118508235 single base substitution T G intron_variant LIRI-JP 5 118510304 118510304 single base substitution G T downstream_gene_variant LIRI-JP 5 118510304 118510304 single base substitution G T intron_variant LIRI-JP 5 118511357 118511357 single base substitution T A downstream_gene_variant LIRI-JP 5 118511357 118511357 single base substitution T A intron_variant LIRI-JP 5 118512102 118512102 single base substitution A T downstream_gene_variant LIRI-JP 5 118512102 118512102 single base substitution A T intron_variant LIRI-JP 5 118518229 118518229 single base substitution A G intron_variant LIRI-JP 5 118518448 118518448 single base substitution A G intron_variant LIRI-JP 5 118518457 118518457 single base substitution G A intron_variant LIRI-JP 5 118521961 118521961 single base substitution A G intron_variant LIRI-JP 5 118526427 118526427 single base substitution A C intron_variant LIRI-JP 5 118526431 118526431 single base substitution G A intron_variant LIRI-JP 5 118526601 118526601 single base substitution T C intron_variant LIRI-JP 5 118528366 118528366 single base substitution A T intron_variant LIRI-JP 5 118531613 118531613 single base substitution C T intron_variant LIRI-JP 5 118531613 118531613 single base substitution C T upstream_gene_variant LIRI-JP 5 118532035 118532035 single base substitution G A intron_variant LIRI-JP 5 118532035 118532035 single base substitution G A upstream_gene_variant LIRI-JP 5 118532701 118532701 single base substitution T C intron_variant LIRI-JP 5 118532701 118532701 single base substitution T C upstream_gene_variant LIRI-JP 5 118533047 118533047 single base substitution A G intron_variant LIRI-JP 5 118533047 118533047 single base substitution A G upstream_gene_variant LIRI-JP 5 118537370 118537370 single base substitution T C intron_variant LIRI-JP 5 118537370 118537370 single base substitution T C upstream_gene_variant LIRI-JP 5 118537957 118537957 single base substitution A T intron_variant LIRI-JP 5 118537957 118537957 single base substitution A T upstream_gene_variant LIRI-JP 5 118537972 118537972 single base substitution G T intron_variant LIRI-JP 5 118537972 118537972 single base substitution G T upstream_gene_variant LIRI-JP 5 118539541 118539541 single base substitution A G intron_variant LIRI-JP 5 118539541 118539541 single base substitution A G upstream_gene_variant LIRI-JP 5 118539710 118539710 single base substitution G T intron_variant LIRI-JP 5 118539710 118539710 single base substitution G T upstream_gene_variant LIRI-JP 5 118539919 118539919 single base substitution G T intron_variant LIRI-JP 5 118539919 118539919 single base substitution G T upstream_gene_variant LIRI-JP 5 118540352 118540352 single base substitution A G intron_variant LIRI-JP 5 118540352 118540352 single base substitution A G upstream_gene_variant LIRI-JP 5 118544589 118544589 single base substitution A G downstream_gene_variant LIRI-JP 5 118544589 118544589 single base substitution A G intron_variant LIRI-JP 5 118545625 118545625 single base substitution T C downstream_gene_variant LIRI-JP 5 118545625 118545625 single base substitution T C intron_variant LIRI-JP 5 118546362 118546362 single base substitution T C downstream_gene_variant LIRI-JP 5 118546362 118546362 single base substitution T C intron_variant LIRI-JP 5 118546607 118546607 single base substitution G T downstream_gene_variant LIRI-JP 5 118546607 118546607 single base substitution G T intron_variant LIRI-JP 5 118546793 118546793 single base substitution A G downstream_gene_variant LIRI-JP 5 118546793 118546793 single base substitution A G intron_variant LIRI-JP 5 118547335 118547335 single base substitution A G downstream_gene_variant LIRI-JP 5 118547335 118547335 single base substitution A G intron_variant LIRI-JP 5 118547721 118547721 single base substitution T G intron_variant LIRI-JP 5 118548373 118548373 insertion of <=200bp - CCAATCAAA intron_variant LIRI-JP 5 118549363 118549363 single base substitution G T intron_variant LIRI-JP 5 118549522 118549522 single base substitution A G intron_variant LIRI-JP 5 118551387 118551387 single base substitution T C intron_variant LIRI-JP 5 118551916 118551916 single base substitution G A intron_variant LIRI-JP 5 118553481 118553481 single base substitution A T intron_variant LIRI-JP 5 118553482 118553482 single base substitution T A intron_variant LIRI-JP 5 118554696 118554696 single base substitution T C intron_variant LIRI-JP 5 118555263 118555263 single base substitution A T intron_variant LIRI-JP 5 118555267 118555267 single base substitution T A intron_variant LIRI-JP 5 118557533 118557534 deletion of <=200bp AT - intron_variant LIRI-JP 5 118562532 118562532 single base substitution A G intron_variant LIRI-JP 5 118565309 118565309 single base substitution A G intron_variant LIRI-JP 5 118566715 118566715 single base substitution G A intron_variant LIRI-JP 5 118567382 118567382 single base substitution C T intron_variant LIRI-JP 5 118567382 118567382 single base substitution C T upstream_gene_variant LIRI-JP 5 118570224 118570224 single base substitution C A intron_variant LIRI-JP 5 118570224 118570224 single base substitution C A upstream_gene_variant LIRI-JP 5 118570776 118570776 single base substitution T A intron_variant LIRI-JP 5 118570776 118570776 single base substitution T A upstream_gene_variant LIRI-JP 5 118572298 118572298 single base substitution A G exon_variant LIRI-JP 5 118572298 118572298 single base substitution A G intron_variant LIRI-JP 5 118572407 118572407 single base substitution A C exon_variant LIRI-JP 5 118572407 118572407 single base substitution A C intron_variant LIRI-JP 5 118572430 118572430 single base substitution A C exon_variant LIRI-JP 5 118572430 118572430 single base substitution A C intron_variant LIRI-JP 5 118572527 118572527 single base substitution G A exon_variant LIRI-JP 5 118572527 118572527 single base substitution G A intron_variant LIRI-JP 5 118572961 118572961 single base substitution T C exon_variant LIRI-JP 5 118572961 118572961 single base substitution T C intron_variant LIRI-JP 5 118573008 118573008 single base substitution T G exon_variant LIRI-JP 5 118573008 118573008 single base substitution T G intron_variant LIRI-JP 5 118574293 118574293 single base substitution A G downstream_gene_variant LIRI-JP 5 118574293 118574293 single base substitution A G intron_variant LIRI-JP 5 118576533 118576533 single base substitution T G downstream_gene_variant LIRI-JP 5 118576533 118576533 single base substitution T G intron_variant LIRI-JP 5 118577491 118577491 single base substitution T C downstream_gene_variant LIRI-JP 5 118577491 118577491 single base substitution T C intron_variant LIRI-JP 5 118579474 118579474 single base substitution T A intron_variant LIRI-JP 5 118580397 118580397 single base substitution C T intron_variant LIRI-JP 5 118584800 118584800 single base substitution A G 3_prime_UTR_variant LIRI-JP 5 118584800 118584800 single base substitution A G downstream_gene_variant LIRI-JP 5 118584800 118584800 single base substitution A G exon_variant LIRI-JP 5 118587307 118587307 single base substitution A G downstream_gene_variant LUSC-KR 5 118369149 118369149 single base substitution A T upstream_gene_variant LUSC-KR 5 118369538 118369538 single base substitution C A upstream_gene_variant LUSC-KR 5 118381298 118381298 single base substitution C T intron_variant LUSC-KR 5 118389006 118389006 single base substitution T C intron_variant LUSC-KR 5 118405781 118405781 single base substitution C A intron_variant LUSC-KR 5 118405781 118405781 single base substitution C A upstream_gene_variant LUSC-KR 5 118409647 118409647 single base substitution G C intron_variant LUSC-KR 5 118413480 118413480 single base substitution G A intron_variant LUSC-KR 5 118413683 118413683 single base substitution G C intron_variant LUSC-KR 5 118426451 118426451 single base substitution G T intron_variant LUSC-KR 5 118432070 118432070 single base substitution C T intron_variant LUSC-KR 5 118432070 118432070 single base substitution C T upstream_gene_variant LUSC-KR 5 118452291 118452291 single base substitution C T intron_variant LUSC-KR 5 118456017 118456017 single base substitution C G intron_variant LUSC-KR 5 118457744 118457744 single base substitution A C intron_variant LUSC-KR 5 118459092 118459092 single base substitution G A intron_variant LUSC-KR 5 118459095 118459095 single base substitution G A intron_variant LUSC-KR 5 118468296 118468296 single base substitution C T downstream_gene_variant LUSC-KR 5 118468296 118468296 single base substitution C T intron_variant LUSC-KR 5 118468296 118468296 single base substitution C T upstream_gene_variant LUSC-KR 5 118468460 118468460 single base substitution A C downstream_gene_variant LUSC-KR 5 118468460 118468460 single base substitution A C intron_variant LUSC-KR 5 118468460 118468460 single base substitution A C upstream_gene_variant LUSC-KR 5 118468617 118468617 single base substitution A G downstream_gene_variant LUSC-KR 5 118468617 118468617 single base substitution A G intron_variant LUSC-KR 5 118468617 118468617 single base substitution A G upstream_gene_variant LUSC-KR 5 118469599 118469599 single base substitution A G downstream_gene_variant LUSC-KR 5 118469599 118469599 single base substitution A G synonymous_variant A660A 1980A>G LUSC-KR 5 118469599 118469599 single base substitution A G upstream_gene_variant LUSC-KR 5 118470947 118470947 single base substitution A G downstream_gene_variant LUSC-KR 5 118470947 118470947 single base substitution A G intron_variant LUSC-KR 5 118472479 118472479 single base substitution G C downstream_gene_variant LUSC-KR 5 118472479 118472479 single base substitution G C intron_variant LUSC-KR 5 118473773 118473773 single base substitution C T downstream_gene_variant LUSC-KR 5 118473773 118473773 single base substitution C T intron_variant LUSC-KR 5 118487917 118487917 single base substitution G A downstream_gene_variant LUSC-KR 5 118487917 118487917 single base substitution G A intron_variant LUSC-KR 5 118491914 118491914 single base substitution C T intron_variant LUSC-KR 5 118494733 118494733 single base substitution G C intron_variant LUSC-KR 5 118497181 118497181 single base substitution G C intron_variant LUSC-KR 5 118511144 118511144 single base substitution A T downstream_gene_variant LUSC-KR 5 118511144 118511144 single base substitution A T intron_variant LUSC-KR 5 118519980 118519980 single base substitution G T intron_variant LUSC-KR 5 118522040 118522040 single base substitution A T intron_variant LUSC-KR 5 118530813 118530813 single base substitution G C intron_variant LUSC-KR 5 118530813 118530813 single base substitution G C upstream_gene_variant LUSC-KR 5 118534104 118534104 single base substitution G T intron_variant LUSC-KR 5 118538795 118538795 single base substitution G C intron_variant LUSC-KR 5 118538795 118538795 single base substitution G C upstream_gene_variant LUSC-KR 5 118546440 118546440 single base substitution C T downstream_gene_variant LUSC-KR 5 118546440 118546440 single base substitution C T intron_variant LUSC-KR 5 118558949 118558949 single base substitution G A intron_variant LUSC-KR 5 118560702 118560702 single base substitution G C intron_variant LUSC-KR 5 118562446 118562446 single base substitution G T intron_variant LUSC-KR 5 118563294 118563294 single base substitution G T intron_variant LUSC-KR 5 118564732 118564732 single base substitution G T intron_variant LUSC-KR 5 118570424 118570424 single base substitution C T intron_variant LUSC-KR 5 118570424 118570424 single base substitution C T upstream_gene_variant LUSC-KR 5 118572938 118572938 single base substitution G T exon_variant LUSC-KR 5 118572938 118572938 single base substitution G T intron_variant LUSC-KR 5 118579297 118579297 single base substitution C A intron_variant LUSC-KR 5 118586191 118586191 single base substitution C A downstream_gene_variant LUSC-US 5 118440944 118440944 single base substitution G T downstream_gene_variant LUSC-US 5 118440944 118440944 single base substitution G T exon_variant LUSC-US 5 118440944 118440944 single base substitution G T missense_variant D119Y 355G>T LUSC-US 5 118465097 118465097 single base substitution G T downstream_gene_variant LUSC-US 5 118465097 118465097 single base substitution G T exon_variant LUSC-US 5 118465097 118465097 single base substitution G T missense_variant A432S 1294G>T LUSC-US 5 118465097 118465097 single base substitution G T upstream_gene_variant LUSC-US 5 118479539 118479539 single base substitution T A exon_variant LUSC-US 5 118479539 118479539 single base substitution T A missense_variant Y794N 2380T>A LUSC-US 5 118484909 118484909 single base substitution A G downstream_gene_variant LUSC-US 5 118484909 118484909 single base substitution A G synonymous_variant K1129K 3387A>G LUSC-US 5 118485124 118485124 single base substitution G T downstream_gene_variant LUSC-US 5 118485124 118485124 single base substitution G T missense_variant R1201L 3602G>T LUSC-US 5 118485540 118485540 single base substitution C A downstream_gene_variant LUSC-US 5 118485540 118485540 single base substitution C A synonymous_variant R1340R 4018C>A LUSC-US 5 118485784 118485784 single base substitution C G downstream_gene_variant LUSC-US 5 118485784 118485784 single base substitution C G stop_gained S1421* 4262C>G LUSC-US 5 118503367 118503367 single base substitution G C exon_variant LUSC-US 5 118503367 118503367 single base substitution G C missense_variant D1736H 5206G>C LUSC-US 5 118503367 118503367 single base substitution G C upstream_gene_variant LUSC-US 5 118513065 118513065 single base substitution A G missense_variant N2258D 6772A>G LUSC-US 5 118529647 118529647 single base substitution C G missense_variant S2480C 7439C>G LUSC-US 5 118529647 118529647 single base substitution C G upstream_gene_variant LUSC-US 5 118533536 118533536 single base substitution C T exon_variant LUSC-US 5 118533536 118533536 single base substitution C T missense_variant H2544Y 7630C>T MALY-DE 5 118370833 118370833 single base substitution A G upstream_gene_variant MALY-DE 5 118371871 118371871 single base substitution A G upstream_gene_variant MALY-DE 5 118374157 118374157 single base substitution A C intron_variant MALY-DE 5 118376693 118376693 single base substitution C A intron_variant MALY-DE 5 118377090 118377090 single base substitution A T intron_variant MALY-DE 5 118379906 118379906 single base substitution A G intron_variant MALY-DE 5 118380681 118380681 single base substitution C A splice_region_variant MALY-DE 5 118382663 118382663 single base substitution G A intron_variant MALY-DE 5 118390382 118390382 single base substitution T A intron_variant MALY-DE 5 118391422 118391422 single base substitution A G intron_variant MALY-DE 5 118396416 118396416 single base substitution C G intron_variant MALY-DE 5 118405403 118405403 single base substitution C T intron_variant MALY-DE 5 118405403 118405403 single base substitution C T upstream_gene_variant MALY-DE 5 118410233 118410233 deletion of <=200bp A - intron_variant MALY-DE 5 118411019 118411019 single base substitution C A intron_variant MALY-DE 5 118420034 118420034 single base substitution C G intron_variant MALY-DE 5 118421925 118421925 single base substitution A G intron_variant MALY-DE 5 118429475 118429475 single base substitution T C intron_variant MALY-DE 5 118437462 118437462 single base substitution A G intron_variant MALY-DE 5 118437462 118437462 single base substitution A G upstream_gene_variant MALY-DE 5 118438792 118438792 single base substitution A T downstream_gene_variant MALY-DE 5 118438792 118438792 single base substitution A T intron_variant MALY-DE 5 118438792 118438792 single base substitution A T upstream_gene_variant MALY-DE 5 118456417 118456417 single base substitution A G intron_variant MALY-DE 5 118461934 118461934 single base substitution C T intron_variant MALY-DE 5 118461934 118461934 single base substitution C T upstream_gene_variant MALY-DE 5 118462510 118462511 deletion of <=200bp AT - intron_variant MALY-DE 5 118462510 118462511 deletion of <=200bp AT - upstream_gene_variant MALY-DE 5 118463985 118463985 single base substitution A G intron_variant MALY-DE 5 118463985 118463985 single base substitution A G upstream_gene_variant MALY-DE 5 118466040 118466040 single base substitution G T downstream_gene_variant MALY-DE 5 118466040 118466040 single base substitution G T intron_variant MALY-DE 5 118466040 118466040 single base substitution G T upstream_gene_variant MALY-DE 5 118466459 118466459 single base substitution T C downstream_gene_variant MALY-DE 5 118466459 118466459 single base substitution T C intron_variant MALY-DE 5 118466459 118466459 single base substitution T C upstream_gene_variant MALY-DE 5 118476796 118476796 insertion of <=200bp - A intron_variant MALY-DE 5 118477510 118477510 single base substitution T G intron_variant MALY-DE 5 118479806 118479806 single base substitution A G intron_variant MALY-DE 5 118479815 118479815 single base substitution A T intron_variant MALY-DE 5 118480676 118480676 single base substitution G A intron_variant MALY-DE 5 118484599 118484599 single base substitution G A downstream_gene_variant MALY-DE 5 118484599 118484599 single base substitution G A stop_gained W1026* 3077G>A MALY-DE 5 118487285 118487285 single base substitution G A downstream_gene_variant MALY-DE 5 118487285 118487285 single base substitution G A intron_variant MALY-DE 5 118487684 118487684 single base substitution T C downstream_gene_variant MALY-DE 5 118487684 118487684 single base substitution T C missense_variant F1552S 4655T>C MALY-DE 5 118490079 118490079 single base substitution A G intron_variant MALY-DE 5 118494691 118494692 deletion of <=200bp AG - intron_variant MALY-DE 5 118496520 118496520 single base substitution G A intron_variant MALY-DE 5 118502712 118502712 single base substitution T G intron_variant MALY-DE 5 118502712 118502712 single base substitution T G upstream_gene_variant MALY-DE 5 118511913 118511913 deletion of <=200bp A - downstream_gene_variant MALY-DE 5 118511913 118511913 deletion of <=200bp A - intron_variant MALY-DE 5 118522758 118522758 deletion of <=200bp T - intron_variant MALY-DE 5 118525510 118525510 single base substitution C T stop_gained Q2415* 7243C>T MALY-DE 5 118526746 118526746 insertion of <=200bp - A intron_variant MALY-DE 5 118532253 118532253 single base substitution A G intron_variant MALY-DE 5 118532253 118532253 single base substitution A G upstream_gene_variant MALY-DE 5 118533162 118533162 single base substitution A T intron_variant MALY-DE 5 118533162 118533162 single base substitution A T upstream_gene_variant MALY-DE 5 118534320 118534320 single base substitution A G intron_variant MALY-DE 5 118536531 118536531 single base substitution A G intron_variant MALY-DE 5 118536620 118536620 single base substitution C G intron_variant MALY-DE 5 118538468 118538468 single base substitution C T intron_variant MALY-DE 5 118538468 118538468 single base substitution C T upstream_gene_variant MALY-DE 5 118546993 118546993 single base substitution T C downstream_gene_variant MALY-DE 5 118546993 118546993 single base substitution T C intron_variant MALY-DE 5 118549028 118549028 single base substitution A T intron_variant MALY-DE 5 118549817 118549817 single base substitution C T intron_variant MALY-DE 5 118555263 118555263 single base substitution A T intron_variant MALY-DE 5 118555267 118555267 single base substitution T A intron_variant MALY-DE 5 118575337 118575337 single base substitution A G downstream_gene_variant MALY-DE 5 118575337 118575337 single base substitution A G intron_variant MALY-DE 5 118581651 118581651 single base substitution C A intron_variant MELA-AU 5 118369065 118369065 single base substitution T A upstream_gene_variant MELA-AU 5 118369971 118369971 single base substitution G A upstream_gene_variant MELA-AU 5 118370212 118370212 single base substitution C T upstream_gene_variant MELA-AU 5 118370693 118370693 single base substitution G A upstream_gene_variant MELA-AU 5 118370708 118370708 single base substitution C T upstream_gene_variant MELA-AU 5 118371060 118371060 single base substitution G A upstream_gene_variant MELA-AU 5 118371140 118371140 single base substitution G A upstream_gene_variant MELA-AU 5 118371628 118371628 single base substitution G A upstream_gene_variant MELA-AU 5 118372105 118372105 single base substitution G A upstream_gene_variant MELA-AU 5 118372298 118372298 single base substitution C A upstream_gene_variant MELA-AU 5 118372330 118372330 single base substitution C T upstream_gene_variant MELA-AU 5 118372656 118372656 single base substitution C T upstream_gene_variant MELA-AU 5 118373125 118373125 single base substitution A T upstream_gene_variant MELA-AU 5 118373742 118373742 single base substitution G A intron_variant MELA-AU 5 118373909 118373909 single base substitution C T intron_variant MELA-AU 5 118374045 118374045 single base substitution G A intron_variant MELA-AU 5 118374389 118374389 single base substitution G A intron_variant MELA-AU 5 118374411 118374411 single base substitution G A intron_variant MELA-AU 5 118374622 118374622 single base substitution C T intron_variant MELA-AU 5 118374777 118374777 single base substitution G A intron_variant MELA-AU 5 118375566 118375566 single base substitution C T intron_variant MELA-AU 5 118375707 118375707 single base substitution G A intron_variant MELA-AU 5 118376233 118376233 single base substitution G A intron_variant MELA-AU 5 118376283 118376283 single base substitution G A intron_variant MELA-AU 5 118376589 118376589 single base substitution C T intron_variant MELA-AU 5 118376757 118376757 single base substitution C T intron_variant MELA-AU 5 118377033 118377033 single base substitution C T intron_variant MELA-AU 5 118377055 118377055 single base substitution G A intron_variant MELA-AU 5 118377141 118377141 single base substitution C T intron_variant MELA-AU 5 118377246 118377246 single base substitution G A intron_variant MELA-AU 5 118377247 118377247 single base substitution G A intron_variant MELA-AU 5 118377285 118377285 single base substitution G A intron_variant MELA-AU 5 118377572 118377572 single base substitution G A intron_variant MELA-AU 5 118378454 118378454 single base substitution G A intron_variant MELA-AU 5 118378935 118378935 single base substitution G A intron_variant MELA-AU 5 118379043 118379043 single base substitution G A intron_variant MELA-AU 5 118379238 118379238 single base substitution G C intron_variant MELA-AU 5 118379889 118379889 single base substitution A G intron_variant MELA-AU 5 118380575 118380575 single base substitution G A exon_variant MELA-AU 5 118380732 118380732 single base substitution C T intron_variant MELA-AU 5 118380787 118380787 single base substitution C T intron_variant MELA-AU 5 118380928 118380928 single base substitution G A intron_variant MELA-AU 5 118381197 118381197 single base substitution G A intron_variant MELA-AU 5 118381522 118381522 single base substitution G A intron_variant MELA-AU 5 118381674 118381674 single base substitution G A intron_variant MELA-AU 5 118382524 118382524 single base substitution G A intron_variant MELA-AU 5 118382956 118382956 single base substitution G A intron_variant MELA-AU 5 118383738 118383738 single base substitution G A intron_variant MELA-AU 5 118383842 118383842 single base substitution C T intron_variant MELA-AU 5 118384652 118384652 single base substitution C T intron_variant MELA-AU 5 118384813 118384813 single base substitution C T intron_variant MELA-AU 5 118385536 118385536 single base substitution A G intron_variant MELA-AU 5 118385959 118385959 single base substitution C T intron_variant MELA-AU 5 118386260 118386260 single base substitution C T intron_variant MELA-AU 5 118387893 118387893 single base substitution C T intron_variant MELA-AU 5 118388072 118388072 single base substitution C T intron_variant MELA-AU 5 118388200 118388200 single base substitution G A intron_variant MELA-AU 5 118388577 118388577 single base substitution G A intron_variant MELA-AU 5 118388766 118388766 single base substitution C T intron_variant MELA-AU 5 118389515 118389515 single base substitution C A intron_variant MELA-AU 5 118389692 118389692 single base substitution T A intron_variant MELA-AU 5 118389822 118389822 single base substitution G A intron_variant MELA-AU 5 118389899 118389899 single base substitution G A intron_variant MELA-AU 5 118391181 118391181 single base substitution G A intron_variant MELA-AU 5 118391342 118391342 single base substitution T A intron_variant MELA-AU 5 118392592 118392592 single base substitution G A intron_variant MELA-AU 5 118392611 118392611 single base substitution G A intron_variant MELA-AU 5 118393761 118393761 single base substitution C T intron_variant MELA-AU 5 118393794 118393794 single base substitution G A intron_variant MELA-AU 5 118394666 118394666 single base substitution G A intron_variant MELA-AU 5 118394882 118394882 single base substitution G A intron_variant MELA-AU 5 118395239 118395239 single base substitution G A intron_variant MELA-AU 5 118396622 118396622 single base substitution G A intron_variant MELA-AU 5 118396951 118396951 single base substitution C T intron_variant MELA-AU 5 118397024 118397024 single base substitution G A intron_variant MELA-AU 5 118397768 118397768 single base substitution G A intron_variant MELA-AU 5 118398102 118398102 single base substitution G A intron_variant MELA-AU 5 118398523 118398523 single base substitution G A intron_variant MELA-AU 5 118398698 118398698 single base substitution C T intron_variant MELA-AU 5 118398958 118398958 single base substitution A T intron_variant MELA-AU 5 118399473 118399473 single base substitution G A intron_variant MELA-AU 5 118399997 118399997 deletion of <=200bp A - intron_variant MELA-AU 5 118400001 118400001 single base substitution G T intron_variant MELA-AU 5 118400094 118400094 single base substitution C T intron_variant MELA-AU 5 118401567 118401568 multiple base substitution (>=2bp and <=200bp) AA GT intron_variant MELA-AU 5 118402821 118402821 single base substitution G A intron_variant MELA-AU 5 118402821 118402821 single base substitution G A upstream_gene_variant MELA-AU 5 118404119 118404119 single base substitution G A intron_variant MELA-AU 5 118404119 118404119 single base substitution G A upstream_gene_variant MELA-AU 5 118404186 118404186 single base substitution C T intron_variant MELA-AU 5 118404186 118404186 single base substitution C T upstream_gene_variant MELA-AU 5 118404318 118404318 single base substitution G A intron_variant MELA-AU 5 118404318 118404318 single base substitution G A upstream_gene_variant MELA-AU 5 118404370 118404370 single base substitution G A intron_variant MELA-AU 5 118404370 118404370 single base substitution G A upstream_gene_variant MELA-AU 5 118404553 118404553 single base substitution T A intron_variant MELA-AU 5 118404553 118404553 single base substitution T A upstream_gene_variant MELA-AU 5 118405420 118405420 single base substitution C A intron_variant MELA-AU 5 118405420 118405420 single base substitution C A upstream_gene_variant MELA-AU 5 118406010 118406011 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 118406010 118406011 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 118406897 118406897 single base substitution G A intron_variant MELA-AU 5 118406897 118406897 single base substitution G A upstream_gene_variant MELA-AU 5 118407977 118407977 single base substitution G A intron_variant MELA-AU 5 118409326 118409326 single base substitution A T intron_variant MELA-AU 5 118409455 118409455 single base substitution T C intron_variant MELA-AU 5 118410134 118410134 single base substitution C T intron_variant MELA-AU 5 118410936 118410936 single base substitution C T intron_variant MELA-AU 5 118411372 118411372 single base substitution C T intron_variant MELA-AU 5 118411436 118411436 single base substitution A T intron_variant MELA-AU 5 118414635 118414635 single base substitution C T intron_variant MELA-AU 5 118415022 118415022 single base substitution G A intron_variant MELA-AU 5 118415102 118415102 single base substitution T G intron_variant MELA-AU 5 118416617 118416617 single base substitution C T intron_variant MELA-AU 5 118416787 118416787 single base substitution C T intron_variant MELA-AU 5 118417157 118417157 single base substitution T C intron_variant MELA-AU 5 118419346 118419347 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 118419931 118419931 single base substitution T G intron_variant MELA-AU 5 118420273 118420273 single base substitution C T intron_variant MELA-AU 5 118421684 118421684 single base substitution T C intron_variant MELA-AU 5 118422565 118422565 single base substitution C T intron_variant MELA-AU 5 118423079 118423079 single base substitution C T intron_variant MELA-AU 5 118423273 118423273 single base substitution T G intron_variant MELA-AU 5 118423376 118423376 single base substitution C T intron_variant MELA-AU 5 118425804 118425804 single base substitution C T intron_variant MELA-AU 5 118426479 118426479 single base substitution C T intron_variant MELA-AU 5 118426525 118426525 single base substitution G T intron_variant MELA-AU 5 118426927 118426927 single base substitution T G intron_variant MELA-AU 5 118427528 118427528 single base substitution C T intron_variant MELA-AU 5 118428552 118428552 single base substitution C T intron_variant MELA-AU 5 118429555 118429555 single base substitution C T intron_variant MELA-AU 5 118432622 118432622 single base substitution T A intron_variant MELA-AU 5 118432622 118432622 single base substitution T A upstream_gene_variant MELA-AU 5 118433546 118433546 single base substitution A G intron_variant MELA-AU 5 118433546 118433546 single base substitution A G upstream_gene_variant MELA-AU 5 118434170 118434170 single base substitution G A intron_variant MELA-AU 5 118434170 118434170 single base substitution G A upstream_gene_variant MELA-AU 5 118434573 118434573 single base substitution C T intron_variant MELA-AU 5 118434573 118434573 single base substitution C T upstream_gene_variant MELA-AU 5 118435325 118435325 single base substitution A T intron_variant MELA-AU 5 118435325 118435325 single base substitution A T upstream_gene_variant MELA-AU 5 118435727 118435727 single base substitution G A intron_variant MELA-AU 5 118435727 118435727 single base substitution G A upstream_gene_variant MELA-AU 5 118436124 118436124 single base substitution C T intron_variant MELA-AU 5 118436124 118436124 single base substitution C T upstream_gene_variant MELA-AU 5 118436780 118436781 multiple base substitution (>=2bp and <=200bp) AC CA intron_variant MELA-AU 5 118436780 118436781 multiple base substitution (>=2bp and <=200bp) AC CA upstream_gene_variant MELA-AU 5 118437192 118437192 single base substitution A T intron_variant MELA-AU 5 118437192 118437192 single base substitution A T upstream_gene_variant MELA-AU 5 118437863 118437863 single base substitution C T exon_variant MELA-AU 5 118437863 118437863 single base substitution C T intron_variant MELA-AU 5 118437863 118437863 single base substitution C T upstream_gene_variant MELA-AU 5 118439302 118439302 single base substitution C T downstream_gene_variant MELA-AU 5 118439302 118439302 single base substitution C T intron_variant MELA-AU 5 118439302 118439302 single base substitution C T upstream_gene_variant MELA-AU 5 118440716 118440738 deletion of <=200bp TTTATCATGTGTTCTCTATTTTT - downstream_gene_variant MELA-AU 5 118440716 118440738 deletion of <=200bp TTTATCATGTGTTCTCTATTTTT - intron_variant MELA-AU 5 118440716 118440738 deletion of <=200bp TTTATCATGTGTTCTCTATTTTT - upstream_gene_variant MELA-AU 5 118441756 118441756 single base substitution G T downstream_gene_variant MELA-AU 5 118441756 118441756 single base substitution G T intron_variant MELA-AU 5 118442887 118442887 single base substitution T C downstream_gene_variant MELA-AU 5 118442887 118442887 single base substitution T C intron_variant MELA-AU 5 118443210 118443210 single base substitution C T downstream_gene_variant MELA-AU 5 118443210 118443210 single base substitution C T intron_variant MELA-AU 5 118443754 118443754 single base substitution C T downstream_gene_variant MELA-AU 5 118443754 118443754 single base substitution C T intron_variant MELA-AU 5 118445275 118445275 single base substitution T C downstream_gene_variant MELA-AU 5 118445275 118445275 single base substitution T C intron_variant MELA-AU 5 118445779 118445779 single base substitution C T downstream_gene_variant MELA-AU 5 118445779 118445779 single base substitution C T intron_variant MELA-AU 5 118446123 118446123 single base substitution A T intron_variant MELA-AU 5 118446742 118446742 single base substitution C T intron_variant MELA-AU 5 118447416 118447416 single base substitution T A intron_variant MELA-AU 5 118450179 118450179 single base substitution C T exon_variant MELA-AU 5 118450179 118450179 single base substitution C T synonymous_variant S169S 507C>T MELA-AU 5 118450238 118450238 single base substitution T A splice_donor_variant MELA-AU 5 118450693 118450693 single base substitution C T intron_variant MELA-AU 5 118451067 118451067 single base substitution T C intron_variant MELA-AU 5 118451552 118451552 single base substitution G A intron_variant MELA-AU 5 118451582 118451582 single base substitution C T intron_variant MELA-AU 5 118451598 118451598 single base substitution C T intron_variant MELA-AU 5 118451751 118451751 single base substitution C T intron_variant MELA-AU 5 118451792 118451792 single base substitution A T intron_variant MELA-AU 5 118451796 118451796 single base substitution G A intron_variant MELA-AU 5 118452001 118452001 single base substitution C T exon_variant MELA-AU 5 118452001 118452001 single base substitution C T missense_variant S238F 713C>T MELA-AU 5 118452271 118452271 single base substitution C T intron_variant MELA-AU 5 118452348 118452348 single base substitution T G intron_variant MELA-AU 5 118452700 118452700 single base substitution A G intron_variant MELA-AU 5 118453959 118453959 single base substitution G A intron_variant MELA-AU 5 118454083 118454083 single base substitution T A intron_variant MELA-AU 5 118455667 118455667 single base substitution C T intron_variant MELA-AU 5 118457749 118457750 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 118457922 118457922 single base substitution C T intron_variant MELA-AU 5 118457996 118457997 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 118458602 118458603 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 118458752 118458752 single base substitution C T intron_variant MELA-AU 5 118460336 118460336 single base substitution C T intron_variant MELA-AU 5 118460336 118460336 single base substitution C T upstream_gene_variant MELA-AU 5 118461779 118461780 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU 5 118461779 118461780 multiple base substitution (>=2bp and <=200bp) AA TT upstream_gene_variant MELA-AU 5 118462912 118462912 single base substitution G T intron_variant MELA-AU 5 118462912 118462912 single base substitution G T upstream_gene_variant MELA-AU 5 118463433 118463433 single base substitution C T intron_variant MELA-AU 5 118463433 118463433 single base substitution C T upstream_gene_variant MELA-AU 5 118464209 118464209 single base substitution G T intron_variant MELA-AU 5 118464209 118464209 single base substitution G T upstream_gene_variant MELA-AU 5 118465094 118465094 single base substitution C T downstream_gene_variant MELA-AU 5 118465094 118465094 single base substitution C T exon_variant MELA-AU 5 118465094 118465094 single base substitution C T stop_gained Q431* 1291C>T MELA-AU 5 118465094 118465094 single base substitution C T upstream_gene_variant MELA-AU 5 118466279 118466279 single base substitution C T downstream_gene_variant MELA-AU 5 118466279 118466279 single base substitution C T intron_variant MELA-AU 5 118466279 118466279 single base substitution C T upstream_gene_variant MELA-AU 5 118466932 118466932 single base substitution C T downstream_gene_variant MELA-AU 5 118466932 118466932 single base substitution C T intron_variant MELA-AU 5 118466932 118466932 single base substitution C T upstream_gene_variant MELA-AU 5 118467259 118467259 single base substitution C T downstream_gene_variant MELA-AU 5 118467259 118467259 single base substitution C T intron_variant MELA-AU 5 118467259 118467259 single base substitution C T upstream_gene_variant MELA-AU 5 118467839 118467839 single base substitution T A downstream_gene_variant MELA-AU 5 118467839 118467839 single base substitution T A intron_variant MELA-AU 5 118467839 118467839 single base substitution T A upstream_gene_variant MELA-AU 5 118468364 118468364 single base substitution C T downstream_gene_variant MELA-AU 5 118468364 118468364 single base substitution C T intron_variant MELA-AU 5 118468364 118468364 single base substitution C T upstream_gene_variant MELA-AU 5 118468569 118468569 single base substitution G A downstream_gene_variant MELA-AU 5 118468569 118468569 single base substitution G A intron_variant MELA-AU 5 118468569 118468569 single base substitution G A upstream_gene_variant MELA-AU 5 118469329 118469329 single base substitution C T downstream_gene_variant MELA-AU 5 118469329 118469329 single base substitution C T synonymous_variant T570T 1710C>T MELA-AU 5 118469329 118469329 single base substitution C T upstream_gene_variant MELA-AU 5 118470642 118470642 single base substitution C T downstream_gene_variant MELA-AU 5 118470642 118470642 single base substitution C T intron_variant MELA-AU 5 118470672 118470673 multiple base substitution (>=2bp and <=200bp) TT CA downstream_gene_variant MELA-AU 5 118470672 118470673 multiple base substitution (>=2bp and <=200bp) TT CA intron_variant MELA-AU 5 118471053 118471053 single base substitution T C downstream_gene_variant MELA-AU 5 118471053 118471053 single base substitution T C intron_variant MELA-AU 5 118471092 118471092 single base substitution A G downstream_gene_variant MELA-AU 5 118471092 118471092 single base substitution A G intron_variant MELA-AU 5 118471352 118471352 single base substitution G A downstream_gene_variant MELA-AU 5 118471352 118471352 single base substitution G A intron_variant MELA-AU 5 118471546 118471546 single base substitution C T downstream_gene_variant MELA-AU 5 118471546 118471546 single base substitution C T intron_variant MELA-AU 5 118471672 118471672 single base substitution G A downstream_gene_variant MELA-AU 5 118471672 118471672 single base substitution G A intron_variant MELA-AU 5 118472232 118472232 single base substitution C T downstream_gene_variant MELA-AU 5 118472232 118472232 single base substitution C T intron_variant MELA-AU 5 118472711 118472711 single base substitution T C downstream_gene_variant MELA-AU 5 118472711 118472711 single base substitution T C intron_variant MELA-AU 5 118472806 118472806 single base substitution C T downstream_gene_variant MELA-AU 5 118472806 118472806 single base substitution C T intron_variant MELA-AU 5 118473203 118473203 single base substitution T C downstream_gene_variant MELA-AU 5 118473203 118473203 single base substitution T C intron_variant MELA-AU 5 118473205 118473205 single base substitution A T downstream_gene_variant MELA-AU 5 118473205 118473205 single base substitution A T intron_variant MELA-AU 5 118473297 118473297 single base substitution A T downstream_gene_variant MELA-AU 5 118473297 118473297 single base substitution A T intron_variant MELA-AU 5 118475154 118475154 single base substitution A C intron_variant MELA-AU 5 118475369 118475369 single base substitution G A intron_variant MELA-AU 5 118475721 118475721 single base substitution G A intron_variant MELA-AU 5 118476022 118476022 single base substitution C T intron_variant MELA-AU 5 118476361 118476361 insertion of <=200bp - A intron_variant MELA-AU 5 118476548 118476548 single base substitution C T intron_variant MELA-AU 5 118476601 118476601 single base substitution A C intron_variant MELA-AU 5 118477644 118477644 single base substitution G T intron_variant MELA-AU 5 118479330 118479330 single base substitution C T intron_variant MELA-AU 5 118481894 118481894 single base substitution C T intron_variant MELA-AU 5 118482144 118482144 single base substitution C T intron_variant MELA-AU 5 118482348 118482348 single base substitution T G intron_variant MELA-AU 5 118483034 118483034 single base substitution C T exon_variant MELA-AU 5 118483034 118483034 single base substitution C T missense_variant S927L 2780C>T MELA-AU 5 118483912 118483912 single base substitution C T downstream_gene_variant MELA-AU 5 118483912 118483912 single base substitution C T intron_variant MELA-AU 5 118484331 118484331 single base substitution C T downstream_gene_variant MELA-AU 5 118484331 118484331 single base substitution C T intron_variant MELA-AU 5 118484445 118484445 single base substitution T A downstream_gene_variant MELA-AU 5 118484445 118484445 single base substitution T A missense_variant S975T 2923T>A MELA-AU 5 118486170 118486170 single base substitution T A downstream_gene_variant MELA-AU 5 118486170 118486170 single base substitution T A intron_variant MELA-AU 5 118486317 118486317 single base substitution C T downstream_gene_variant MELA-AU 5 118486317 118486317 single base substitution C T intron_variant MELA-AU 5 118486736 118486736 single base substitution T A downstream_gene_variant MELA-AU 5 118486736 118486736 single base substitution T A intron_variant MELA-AU 5 118486787 118486787 single base substitution C T downstream_gene_variant MELA-AU 5 118486787 118486787 single base substitution C T intron_variant MELA-AU 5 118486813 118486814 multiple base substitution (>=2bp and <=200bp) AC TT downstream_gene_variant MELA-AU 5 118486813 118486814 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 5 118487028 118487028 single base substitution C A downstream_gene_variant MELA-AU 5 118487028 118487028 single base substitution C A intron_variant MELA-AU 5 118487030 118487030 single base substitution C T downstream_gene_variant MELA-AU 5 118487030 118487030 single base substitution C T intron_variant MELA-AU 5 118487100 118487100 single base substitution A G downstream_gene_variant MELA-AU 5 118487100 118487100 single base substitution A G intron_variant MELA-AU 5 118487242 118487242 single base substitution C T downstream_gene_variant MELA-AU 5 118487242 118487242 single base substitution C T intron_variant MELA-AU 5 118488533 118488533 single base substitution C T intron_variant MELA-AU 5 118488580 118488580 single base substitution C T intron_variant MELA-AU 5 118488606 118488606 single base substitution T A intron_variant MELA-AU 5 118489443 118489443 single base substitution C T intron_variant MELA-AU 5 118489679 118489679 single base substitution C T intron_variant MELA-AU 5 118490616 118490616 single base substitution C T intron_variant MELA-AU 5 118490765 118490765 single base substitution C T intron_variant MELA-AU 5 118490922 118490922 single base substitution T G intron_variant MELA-AU 5 118491694 118491694 single base substitution G T intron_variant MELA-AU 5 118492910 118492910 single base substitution G A intron_variant MELA-AU 5 118493417 118493417 single base substitution C T intron_variant MELA-AU 5 118494646 118494646 single base substitution C T intron_variant MELA-AU 5 118495705 118495705 single base substitution C A intron_variant MELA-AU 5 118495736 118495736 single base substitution C T intron_variant MELA-AU 5 118495795 118495795 single base substitution T A intron_variant MELA-AU 5 118496647 118496647 single base substitution C T intron_variant MELA-AU 5 118497304 118497304 single base substitution C T intron_variant MELA-AU 5 118500422 118500422 single base substitution C T intron_variant MELA-AU 5 118500422 118500422 single base substitution C T upstream_gene_variant MELA-AU 5 118501118 118501118 single base substitution C T intron_variant MELA-AU 5 118501118 118501118 single base substitution C T upstream_gene_variant MELA-AU 5 118501160 118501160 single base substitution C T intron_variant MELA-AU 5 118501160 118501160 single base substitution C T upstream_gene_variant MELA-AU 5 118501223 118501224 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 5 118501223 118501224 multiple base substitution (>=2bp and <=200bp) AC TT upstream_gene_variant MELA-AU 5 118501545 118501545 single base substitution C T intron_variant MELA-AU 5 118501545 118501545 single base substitution C T upstream_gene_variant MELA-AU 5 118501644 118501644 single base substitution T C intron_variant MELA-AU 5 118501644 118501644 single base substitution T C upstream_gene_variant MELA-AU 5 118502287 118502287 single base substitution C T intron_variant MELA-AU 5 118502287 118502287 single base substitution C T upstream_gene_variant MELA-AU 5 118502737 118502737 single base substitution A G intron_variant MELA-AU 5 118502737 118502737 single base substitution A G upstream_gene_variant MELA-AU 5 118502923 118502923 single base substitution A G intron_variant MELA-AU 5 118502923 118502923 single base substitution A G upstream_gene_variant MELA-AU 5 118503106 118503106 single base substitution A G intron_variant MELA-AU 5 118503106 118503106 single base substitution A G upstream_gene_variant MELA-AU 5 118503148 118503148 single base substitution C T intron_variant MELA-AU 5 118503148 118503148 single base substitution C T upstream_gene_variant MELA-AU 5 118504053 118504053 single base substitution C T intron_variant MELA-AU 5 118504053 118504053 single base substitution C T upstream_gene_variant MELA-AU 5 118504225 118504225 single base substitution G A intron_variant MELA-AU 5 118504225 118504225 single base substitution G A upstream_gene_variant MELA-AU 5 118504402 118504402 single base substitution T G intron_variant MELA-AU 5 118504402 118504402 single base substitution T G upstream_gene_variant MELA-AU 5 118504798 118504798 single base substitution C T intron_variant MELA-AU 5 118504798 118504798 single base substitution C T upstream_gene_variant MELA-AU 5 118505634 118505634 single base substitution C T intron_variant MELA-AU 5 118505634 118505634 single base substitution C T upstream_gene_variant MELA-AU 5 118508495 118508495 single base substitution C T downstream_gene_variant MELA-AU 5 118508495 118508495 single base substitution C T intron_variant MELA-AU 5 118508867 118508867 single base substitution C T downstream_gene_variant MELA-AU 5 118508867 118508867 single base substitution C T intron_variant MELA-AU 5 118509403 118509403 single base substitution A G downstream_gene_variant MELA-AU 5 118509403 118509403 single base substitution A G intron_variant MELA-AU 5 118509473 118509473 single base substitution A G downstream_gene_variant MELA-AU 5 118509473 118509473 single base substitution A G intron_variant MELA-AU 5 118509610 118509610 single base substitution C T downstream_gene_variant MELA-AU 5 118509610 118509610 single base substitution C T intron_variant MELA-AU 5 118509972 118509972 single base substitution C T downstream_gene_variant MELA-AU 5 118509972 118509972 single base substitution C T intron_variant MELA-AU 5 118510010 118510010 single base substitution C T downstream_gene_variant MELA-AU 5 118510010 118510010 single base substitution C T intron_variant MELA-AU 5 118510862 118510862 single base substitution C T downstream_gene_variant MELA-AU 5 118510862 118510862 single base substitution C T intron_variant MELA-AU 5 118513089 118513089 single base substitution C T stop_gained Q2266* 6796C>T MELA-AU 5 118513405 118513405 single base substitution C T intron_variant MELA-AU 5 118513433 118513433 single base substitution C T intron_variant MELA-AU 5 118514132 118514132 single base substitution C T intron_variant MELA-AU 5 118514261 118514261 single base substitution C T intron_variant MELA-AU 5 118514367 118514367 single base substitution C T intron_variant MELA-AU 5 118514611 118514611 single base substitution C T intron_variant MELA-AU 5 118514820 118514820 single base substitution C T intron_variant MELA-AU 5 118514820 118514821 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 118515267 118515267 single base substitution C T intron_variant MELA-AU 5 118515627 118515627 single base substitution C T intron_variant MELA-AU 5 118516010 118516010 single base substitution T G intron_variant MELA-AU 5 118517052 118517052 single base substitution C T intron_variant MELA-AU 5 118517465 118517465 single base substitution C T intron_variant MELA-AU 5 118518489 118518489 single base substitution G A intron_variant MELA-AU 5 118518881 118518881 single base substitution C T intron_variant MELA-AU 5 118519048 118519048 single base substitution C T intron_variant MELA-AU 5 118519184 118519184 single base substitution G A intron_variant MELA-AU 5 118519862 118519862 single base substitution C T intron_variant MELA-AU 5 118520346 118520346 single base substitution C T intron_variant MELA-AU 5 118520478 118520478 single base substitution C T intron_variant MELA-AU 5 118521633 118521633 single base substitution G T intron_variant MELA-AU 5 118522195 118522195 single base substitution A T intron_variant MELA-AU 5 118522291 118522291 single base substitution C T intron_variant MELA-AU 5 118522359 118522359 single base substitution T C intron_variant MELA-AU 5 118522527 118522527 single base substitution A G intron_variant MELA-AU 5 118524888 118524888 single base substitution C T intron_variant MELA-AU 5 118526387 118526387 single base substitution T C intron_variant MELA-AU 5 118526622 118526622 single base substitution G C intron_variant MELA-AU 5 118526677 118526677 single base substitution C T intron_variant MELA-AU 5 118526840 118526840 single base substitution C T intron_variant MELA-AU 5 118527802 118527802 single base substitution C T intron_variant MELA-AU 5 118528299 118528299 single base substitution A G intron_variant MELA-AU 5 118528335 118528335 single base substitution T C intron_variant MELA-AU 5 118528935 118528935 single base substitution T A intron_variant MELA-AU 5 118528935 118528935 single base substitution T A upstream_gene_variant MELA-AU 5 118529043 118529043 single base substitution C T intron_variant MELA-AU 5 118529043 118529043 single base substitution C T upstream_gene_variant MELA-AU 5 118529238 118529238 single base substitution T G intron_variant MELA-AU 5 118529238 118529238 single base substitution T G upstream_gene_variant MELA-AU 5 118529670 118529670 single base substitution G A splice_region_variant MELA-AU 5 118529670 118529670 single base substitution G A upstream_gene_variant MELA-AU 5 118529701 118529701 single base substitution A G intron_variant MELA-AU 5 118529701 118529701 single base substitution A G upstream_gene_variant MELA-AU 5 118530749 118530749 single base substitution A G intron_variant MELA-AU 5 118530749 118530749 single base substitution A G upstream_gene_variant MELA-AU 5 118531172 118531183 deletion of <=200bp ACAGAAAGGGTT - intron_variant MELA-AU 5 118531172 118531183 deletion of <=200bp ACAGAAAGGGTT - upstream_gene_variant MELA-AU 5 118531462 118531462 single base substitution C T intron_variant MELA-AU 5 118531462 118531462 single base substitution C T upstream_gene_variant MELA-AU 5 118531684 118531685 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 118531684 118531685 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 118531698 118531698 single base substitution A C intron_variant MELA-AU 5 118531698 118531698 single base substitution A C upstream_gene_variant MELA-AU 5 118532315 118532315 single base substitution C T intron_variant MELA-AU 5 118532315 118532315 single base substitution C T upstream_gene_variant MELA-AU 5 118533077 118533077 single base substitution G A intron_variant MELA-AU 5 118533077 118533077 single base substitution G A upstream_gene_variant MELA-AU 5 118533521 118533521 single base substitution C T exon_variant MELA-AU 5 118533521 118533521 single base substitution C T stop_gained R2539* 7615C>T MELA-AU 5 118533535 118533535 single base substitution C T exon_variant MELA-AU 5 118533535 118533535 single base substitution C T synonymous_variant I2543I 7629C>T MELA-AU 5 118533573 118533573 single base substitution C T exon_variant MELA-AU 5 118533573 118533573 single base substitution C T missense_variant T2556I 7667C>T MELA-AU 5 118533774 118533774 single base substitution C T intron_variant MELA-AU 5 118534520 118534520 single base substitution C T intron_variant MELA-AU 5 118534548 118534548 single base substitution A G intron_variant MELA-AU 5 118534611 118534611 single base substitution T C intron_variant MELA-AU 5 118535069 118535069 single base substitution C T intron_variant MELA-AU 5 118535113 118535113 single base substitution C T intron_variant MELA-AU 5 118536098 118536098 single base substitution C T intron_variant MELA-AU 5 118537421 118537421 single base substitution C T intron_variant MELA-AU 5 118537421 118537421 single base substitution C T upstream_gene_variant MELA-AU 5 118538576 118538576 single base substitution A T intron_variant MELA-AU 5 118538576 118538576 single base substitution A T upstream_gene_variant MELA-AU 5 118538578 118538578 single base substitution T A intron_variant MELA-AU 5 118538578 118538578 single base substitution T A upstream_gene_variant MELA-AU 5 118539284 118539284 single base substitution G A intron_variant MELA-AU 5 118539284 118539284 single base substitution G A upstream_gene_variant MELA-AU 5 118539857 118539857 single base substitution G A intron_variant MELA-AU 5 118539857 118539857 single base substitution G A upstream_gene_variant MELA-AU 5 118539920 118539920 single base substitution C T intron_variant MELA-AU 5 118539920 118539920 single base substitution C T upstream_gene_variant MELA-AU 5 118541196 118541196 single base substitution A C intron_variant MELA-AU 5 118541196 118541196 single base substitution A C upstream_gene_variant MELA-AU 5 118541496 118541496 single base substitution T C intron_variant MELA-AU 5 118541496 118541496 single base substitution T C upstream_gene_variant MELA-AU 5 118541816 118541816 single base substitution C T intron_variant MELA-AU 5 118541816 118541816 single base substitution C T upstream_gene_variant MELA-AU 5 118542675 118542675 single base substitution C G downstream_gene_variant MELA-AU 5 118542675 118542675 single base substitution C G intron_variant MELA-AU 5 118542706 118542706 single base substitution C T downstream_gene_variant MELA-AU 5 118542706 118542706 single base substitution C T intron_variant MELA-AU 5 118542936 118542936 single base substitution C T downstream_gene_variant MELA-AU 5 118542936 118542936 single base substitution C T intron_variant MELA-AU 5 118543338 118543338 single base substitution C T downstream_gene_variant MELA-AU 5 118543338 118543338 single base substitution C T intron_variant MELA-AU 5 118543855 118543855 single base substitution C T downstream_gene_variant MELA-AU 5 118543855 118543855 single base substitution C T intron_variant MELA-AU 5 118544223 118544223 single base substitution C T downstream_gene_variant MELA-AU 5 118544223 118544223 single base substitution C T intron_variant MELA-AU 5 118544575 118544575 single base substitution C T downstream_gene_variant MELA-AU 5 118544575 118544575 single base substitution C T intron_variant MELA-AU 5 118544872 118544872 single base substitution C T downstream_gene_variant MELA-AU 5 118544872 118544872 single base substitution C T intron_variant MELA-AU 5 118545412 118545412 single base substitution T C downstream_gene_variant MELA-AU 5 118545412 118545412 single base substitution T C intron_variant MELA-AU 5 118546647 118546647 single base substitution C T downstream_gene_variant MELA-AU 5 118546647 118546647 single base substitution C T intron_variant MELA-AU 5 118547994 118547994 single base substitution T A intron_variant MELA-AU 5 118548457 118548457 single base substitution T A intron_variant MELA-AU 5 118548822 118548822 single base substitution C T intron_variant MELA-AU 5 118548865 118548865 single base substitution C T intron_variant MELA-AU 5 118549077 118549077 single base substitution C G intron_variant MELA-AU 5 118549086 118549086 single base substitution T A intron_variant MELA-AU 5 118549116 118549116 single base substitution C T intron_variant MELA-AU 5 118550761 118550761 single base substitution G A intron_variant MELA-AU 5 118551238 118551238 single base substitution C T intron_variant MELA-AU 5 118551540 118551540 single base substitution C T intron_variant MELA-AU 5 118552738 118552738 single base substitution C T intron_variant MELA-AU 5 118552791 118552791 single base substitution C T intron_variant MELA-AU 5 118553144 118553144 single base substitution C T intron_variant MELA-AU 5 118554559 118554559 single base substitution T C intron_variant MELA-AU 5 118554954 118554954 single base substitution C T intron_variant MELA-AU 5 118555600 118555600 single base substitution C T intron_variant MELA-AU 5 118555642 118555642 single base substitution C T intron_variant MELA-AU 5 118556715 118556715 single base substitution C T exon_variant MELA-AU 5 118556715 118556715 single base substitution C T missense_variant P2718L 8153C>T MELA-AU 5 118556715 118556715 single base substitution C T missense_variant P2739L 8216C>T MELA-AU 5 118556765 118556765 single base substitution G A exon_variant MELA-AU 5 118556765 118556765 single base substitution G A missense_variant G2735R 8203G>A MELA-AU 5 118556765 118556765 single base substitution G A missense_variant G2756R 8266G>A MELA-AU 5 118556930 118556930 single base substitution A T intron_variant MELA-AU 5 118557612 118557612 single base substitution C T intron_variant MELA-AU 5 118558284 118558284 single base substitution T G intron_variant MELA-AU 5 118558631 118558631 single base substitution C T intron_variant MELA-AU 5 118559306 118559306 single base substitution T C intron_variant MELA-AU 5 118559620 118559620 single base substitution C T intron_variant MELA-AU 5 118559627 118559627 single base substitution C T intron_variant MELA-AU 5 118559698 118559698 single base substitution G A intron_variant MELA-AU 5 118559826 118559826 single base substitution C T intron_variant MELA-AU 5 118560705 118560705 single base substitution T C intron_variant MELA-AU 5 118560782 118560782 single base substitution C T intron_variant MELA-AU 5 118560963 118560963 single base substitution G A intron_variant MELA-AU 5 118562157 118562157 single base substitution C T intron_variant MELA-AU 5 118562718 118562718 single base substitution C T intron_variant MELA-AU 5 118562791 118562791 single base substitution C T intron_variant MELA-AU 5 118562913 118562913 single base substitution C T intron_variant MELA-AU 5 118562955 118562955 single base substitution C T intron_variant MELA-AU 5 118562956 118562956 single base substitution C T intron_variant MELA-AU 5 118563588 118563588 single base substitution G A intron_variant MELA-AU 5 118565094 118565094 single base substitution C G intron_variant MELA-AU 5 118565918 118565918 single base substitution C T intron_variant MELA-AU 5 118566401 118566401 single base substitution C T intron_variant MELA-AU 5 118566605 118566605 single base substitution A T intron_variant MELA-AU 5 118566794 118566794 single base substitution C T intron_variant MELA-AU 5 118566984 118566984 single base substitution C T intron_variant MELA-AU 5 118569329 118569329 single base substitution C T intron_variant MELA-AU 5 118569329 118569329 single base substitution C T upstream_gene_variant MELA-AU 5 118569451 118569451 single base substitution C T intron_variant MELA-AU 5 118569451 118569451 single base substitution C T upstream_gene_variant MELA-AU 5 118569874 118569874 single base substitution C T intron_variant MELA-AU 5 118569874 118569874 single base substitution C T upstream_gene_variant MELA-AU 5 118571457 118571457 single base substitution C T intron_variant MELA-AU 5 118571457 118571457 single base substitution C T upstream_gene_variant MELA-AU 5 118572652 118572652 single base substitution C T exon_variant MELA-AU 5 118572652 118572652 single base substitution C T intron_variant MELA-AU 5 118572916 118572916 single base substitution A G exon_variant MELA-AU 5 118572916 118572916 single base substitution A G intron_variant MELA-AU 5 118573292 118573292 single base substitution C T downstream_gene_variant MELA-AU 5 118573292 118573292 single base substitution C T intron_variant MELA-AU 5 118573395 118573395 single base substitution C G downstream_gene_variant MELA-AU 5 118573395 118573395 single base substitution C G intron_variant MELA-AU 5 118574244 118574244 single base substitution G A downstream_gene_variant MELA-AU 5 118574244 118574244 single base substitution G A intron_variant MELA-AU 5 118575649 118575649 single base substitution C T downstream_gene_variant MELA-AU 5 118575649 118575649 single base substitution C T intron_variant MELA-AU 5 118575711 118575711 single base substitution C T downstream_gene_variant MELA-AU 5 118575711 118575711 single base substitution C T intron_variant MELA-AU 5 118577051 118577051 single base substitution C T downstream_gene_variant MELA-AU 5 118577051 118577051 single base substitution C T intron_variant MELA-AU 5 118578139 118578139 single base substitution T A intron_variant MELA-AU 5 118578481 118578481 single base substitution C T intron_variant MELA-AU 5 118579186 118579186 single base substitution G A intron_variant MELA-AU 5 118579206 118579206 single base substitution C T intron_variant MELA-AU 5 118579398 118579398 single base substitution C T intron_variant MELA-AU 5 118579507 118579507 single base substitution C T intron_variant MELA-AU 5 118579595 118579595 single base substitution A C intron_variant MELA-AU 5 118580185 118580185 single base substitution C T exon_variant MELA-AU 5 118580185 118580185 single base substitution C T stop_gained Q2925* 8773C>T MELA-AU 5 118580185 118580185 single base substitution C T stop_gained Q2946* 8836C>T MELA-AU 5 118580206 118580206 single base substitution A T exon_variant MELA-AU 5 118580206 118580206 single base substitution A T stop_gained K2932* 8794A>T MELA-AU 5 118580206 118580206 single base substitution A T stop_gained K2953* 8857A>T MELA-AU 5 118580619 118580619 single base substitution C T intron_variant MELA-AU 5 118581474 118581474 single base substitution C T intron_variant MELA-AU 5 118581843 118581843 single base substitution G C intron_variant MELA-AU 5 118582441 118582441 single base substitution G C intron_variant MELA-AU 5 118582666 118582666 single base substitution C T intron_variant MELA-AU 5 118583692 118583692 single base substitution C T 3_prime_UTR_variant MELA-AU 5 118583692 118583692 single base substitution C T downstream_gene_variant MELA-AU 5 118583692 118583692 single base substitution C T exon_variant MELA-AU 5 118584497 118584497 single base substitution A C 3_prime_UTR_variant MELA-AU 5 118584497 118584497 single base substitution A C downstream_gene_variant MELA-AU 5 118584497 118584497 single base substitution A C exon_variant MELA-AU 5 118584903 118584903 single base substitution C T downstream_gene_variant MELA-AU 5 118584979 118584979 single base substitution A G downstream_gene_variant MELA-AU 5 118585125 118585125 single base substitution C T downstream_gene_variant MELA-AU 5 118585183 118585183 single base substitution C T downstream_gene_variant MELA-AU 5 118586508 118586509 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 118586551 118586551 single base substitution T C downstream_gene_variant MELA-AU 5 118586732 118586732 single base substitution A G downstream_gene_variant MELA-AU 5 118586823 118586823 single base substitution C T downstream_gene_variant MELA-AU 5 118586878 118586878 single base substitution G C downstream_gene_variant MELA-AU 5 118587915 118587915 single base substitution G A downstream_gene_variant MELA-AU 5 118588075 118588075 single base substitution C T downstream_gene_variant MELA-AU 5 118588706 118588706 single base substitution C T downstream_gene_variant MELA-AU 5 118589370 118589370 single base substitution G A downstream_gene_variant ORCA-IN 5 118396434 118396435 deletion of <=200bp TC - intron_variant ORCA-IN 5 118404971 118404971 insertion of <=200bp - G intron_variant ORCA-IN 5 118404971 118404971 insertion of <=200bp - G upstream_gene_variant ORCA-IN 5 118412702 118412702 single base substitution A G intron_variant ORCA-IN 5 118434365 118434365 single base substitution G C intron_variant ORCA-IN 5 118434365 118434365 single base substitution G C upstream_gene_variant ORCA-IN 5 118482646 118482646 single base substitution C T exon_variant ORCA-IN 5 118482646 118482646 single base substitution C T missense_variant S895L 2684C>T ORCA-IN 5 118492197 118492197 single base substitution A G intron_variant ORCA-IN 5 118499790 118499791 deletion of <=200bp TG - intron_variant ORCA-IN 5 118499790 118499791 deletion of <=200bp TG - upstream_gene_variant ORCA-IN 5 118500208 118500208 single base substitution C G missense_variant S1570C 4709C>G ORCA-IN 5 118500208 118500208 single base substitution C G upstream_gene_variant ORCA-IN 5 118514609 118514609 single base substitution G C intron_variant ORCA-IN 5 118526233 118526233 single base substitution A G intron_variant ORCA-IN 5 118544162 118544162 single base substitution G C downstream_gene_variant ORCA-IN 5 118544162 118544162 single base substitution G C intron_variant ORCA-IN 5 118556642 118556642 single base substitution G C exon_variant ORCA-IN 5 118556642 118556642 single base substitution G C missense_variant D2694H 8080G>C ORCA-IN 5 118556642 118556642 single base substitution G C missense_variant D2715H 8143G>C OV-AU 5 118370244 118370244 single base substitution A G upstream_gene_variant OV-AU 5 118374320 118374320 single base substitution T C intron_variant OV-AU 5 118387333 118387333 single base substitution G T intron_variant OV-AU 5 118390791 118390791 single base substitution C T intron_variant OV-AU 5 118395586 118395586 single base substitution T A intron_variant OV-AU 5 118399280 118399280 single base substitution G C intron_variant OV-AU 5 118400435 118400435 single base substitution C T intron_variant OV-AU 5 118400468 118400468 single base substitution G C intron_variant OV-AU 5 118402936 118402936 single base substitution C A intron_variant OV-AU 5 118402936 118402936 single base substitution C A upstream_gene_variant OV-AU 5 118405343 118405343 single base substitution C T intron_variant OV-AU 5 118405343 118405343 single base substitution C T upstream_gene_variant OV-AU 5 118413616 118413616 single base substitution G A intron_variant OV-AU 5 118418816 118418816 single base substitution G T intron_variant OV-AU 5 118431384 118431384 single base substitution T A intron_variant OV-AU 5 118431384 118431384 single base substitution T A upstream_gene_variant OV-AU 5 118441996 118441996 single base substitution G T downstream_gene_variant OV-AU 5 118441996 118441996 single base substitution G T intron_variant OV-AU 5 118446732 118446732 single base substitution C A intron_variant OV-AU 5 118458272 118458272 single base substitution C A intron_variant OV-AU 5 118463785 118463785 single base substitution C T intron_variant OV-AU 5 118463785 118463785 single base substitution C T upstream_gene_variant OV-AU 5 118478031 118478031 single base substitution T C intron_variant OV-AU 5 118480186 118480186 single base substitution A G intron_variant OV-AU 5 118482415 118482415 single base substitution C G intron_variant OV-AU 5 118487054 118487054 single base substitution A C downstream_gene_variant OV-AU 5 118487054 118487054 single base substitution A C intron_variant OV-AU 5 118493725 118493725 single base substitution T C intron_variant OV-AU 5 118494705 118494705 single base substitution T G intron_variant OV-AU 5 118499862 118499862 single base substitution A G intron_variant OV-AU 5 118499862 118499862 single base substitution A G upstream_gene_variant OV-AU 5 118499998 118499998 single base substitution A T intron_variant OV-AU 5 118499998 118499998 single base substitution A T upstream_gene_variant OV-AU 5 118507549 118507549 single base substitution A G downstream_gene_variant OV-AU 5 118507549 118507549 single base substitution A G exon_variant OV-AU 5 118507549 118507549 single base substitution A G missense_variant N2189S 6566A>G OV-AU 5 118508193 118508193 single base substitution T C downstream_gene_variant OV-AU 5 118508193 118508193 single base substitution T C intron_variant OV-AU 5 118509415 118509415 single base substitution A G downstream_gene_variant OV-AU 5 118509415 118509415 single base substitution A G intron_variant OV-AU 5 118520320 118520320 single base substitution A G intron_variant OV-AU 5 118522630 118522630 single base substitution G A intron_variant OV-AU 5 118525637 118525637 single base substitution T A intron_variant OV-AU 5 118547153 118547153 single base substitution G C downstream_gene_variant OV-AU 5 118547153 118547153 single base substitution G C intron_variant OV-AU 5 118553178 118553178 single base substitution G T intron_variant OV-AU 5 118555480 118555480 single base substitution A G intron_variant OV-AU 5 118559676 118559676 single base substitution G T intron_variant OV-AU 5 118565656 118565656 single base substitution T G intron_variant OV-AU 5 118570742 118570742 single base substitution G A intron_variant OV-AU 5 118570742 118570742 single base substitution G A upstream_gene_variant OV-AU 5 118581173 118581173 single base substitution T A intron_variant OV-US 5 118485175 118485175 single base substitution C G downstream_gene_variant OV-US 5 118485175 118485175 single base substitution C G missense_variant S1218C 3653C>G PACA-AU 5 118368952 118368952 single base substitution C A upstream_gene_variant PACA-AU 5 118398739 118398739 single base substitution A T intron_variant PACA-AU 5 118398790 118398790 single base substitution T A intron_variant PACA-AU 5 118398991 118398991 single base substitution T A intron_variant PACA-AU 5 118402691 118402712 deletion of <=200bp GTTTGTTTGTTCATGAGACGGA - intron_variant PACA-AU 5 118402691 118402712 deletion of <=200bp GTTTGTTTGTTCATGAGACGGA - upstream_gene_variant PACA-AU 5 118404818 118404818 single base substitution A G intron_variant PACA-AU 5 118404818 118404818 single base substitution A G upstream_gene_variant PACA-AU 5 118404936 118404936 single base substitution G C intron_variant PACA-AU 5 118404936 118404936 single base substitution G C upstream_gene_variant PACA-AU 5 118406346 118406346 deletion of <=200bp A - intron_variant PACA-AU 5 118406346 118406346 deletion of <=200bp A - upstream_gene_variant PACA-AU 5 118408721 118408721 single base substitution T C intron_variant PACA-AU 5 118410770 118410770 single base substitution T G intron_variant PACA-AU 5 118417434 118417434 single base substitution A C intron_variant PACA-AU 5 118418593 118418593 single base substitution C T intron_variant PACA-AU 5 118421099 118421099 single base substitution C T intron_variant PACA-AU 5 118422368 118422368 single base substitution C G intron_variant PACA-AU 5 118422618 118422618 single base substitution A G intron_variant PACA-AU 5 118428340 118428340 single base substitution G T intron_variant PACA-AU 5 118432710 118432710 single base substitution A C intron_variant PACA-AU 5 118432710 118432710 single base substitution A C upstream_gene_variant PACA-AU 5 118434870 118434870 single base substitution G T intron_variant PACA-AU 5 118434870 118434870 single base substitution G T upstream_gene_variant PACA-AU 5 118436163 118436163 single base substitution G A intron_variant PACA-AU 5 118436163 118436163 single base substitution G A upstream_gene_variant PACA-AU 5 118441209 118441209 single base substitution G A downstream_gene_variant PACA-AU 5 118441209 118441209 single base substitution G A intron_variant PACA-AU 5 118444739 118444739 single base substitution A C downstream_gene_variant PACA-AU 5 118444739 118444739 single base substitution A C intron_variant PACA-AU 5 118448997 118448997 single base substitution C T intron_variant PACA-AU 5 118452867 118452867 single base substitution G C intron_variant PACA-AU 5 118458457 118458457 single base substitution C T intron_variant PACA-AU 5 118465012 118465012 single base substitution T G exon_variant PACA-AU 5 118465012 118465012 single base substitution T G synonymous_variant T403T 1209T>G PACA-AU 5 118465012 118465012 single base substitution T G upstream_gene_variant PACA-AU 5 118467405 118467405 single base substitution A G downstream_gene_variant PACA-AU 5 118467405 118467405 single base substitution A G intron_variant PACA-AU 5 118467405 118467405 single base substitution A G upstream_gene_variant PACA-AU 5 118470645 118470645 single base substitution C T downstream_gene_variant PACA-AU 5 118470645 118470645 single base substitution C T intron_variant PACA-AU 5 118479525 118479525 single base substitution A T intron_variant PACA-AU 5 118480500 118480500 single base substitution C T intron_variant PACA-AU 5 118482680 118482680 single base substitution A G intron_variant PACA-AU 5 118482692 118482692 single base substitution G C intron_variant PACA-AU 5 118489317 118489317 single base substitution C A intron_variant PACA-AU 5 118493957 118493957 single base substitution A T intron_variant PACA-AU 5 118497222 118497222 single base substitution C G intron_variant PACA-AU 5 118501119 118501119 single base substitution G A intron_variant PACA-AU 5 118501119 118501119 single base substitution G A upstream_gene_variant PACA-AU 5 118501607 118501607 single base substitution C A intron_variant PACA-AU 5 118501607 118501607 single base substitution C A upstream_gene_variant PACA-AU 5 118502640 118502640 single base substitution G A intron_variant PACA-AU 5 118502640 118502640 single base substitution G A upstream_gene_variant PACA-AU 5 118505182 118505182 single base substitution T G intron_variant PACA-AU 5 118505182 118505182 single base substitution T G upstream_gene_variant PACA-AU 5 118507028 118507028 single base substitution G T downstream_gene_variant PACA-AU 5 118507028 118507028 single base substitution G T intron_variant PACA-AU 5 118507583 118507583 single base substitution C A downstream_gene_variant PACA-AU 5 118507583 118507583 single base substitution C A exon_variant PACA-AU 5 118507583 118507583 single base substitution C A missense_variant H2200Q 6600C>A PACA-AU 5 118510718 118510718 single base substitution G A downstream_gene_variant PACA-AU 5 118510718 118510718 single base substitution G A intron_variant PACA-AU 5 118517152 118517152 deletion of <=200bp A - intron_variant PACA-AU 5 118520080 118520080 single base substitution C T intron_variant PACA-AU 5 118524284 118524323 deletion of <=200bp GAAACTTGATTGTTGGTTATCAAATGTTAGTAAGAACAAA - intron_variant PACA-AU 5 118531669 118531669 single base substitution A G intron_variant PACA-AU 5 118531669 118531669 single base substitution A G upstream_gene_variant PACA-AU 5 118531686 118531686 single base substitution C G intron_variant PACA-AU 5 118531686 118531686 single base substitution C G upstream_gene_variant PACA-AU 5 118532668 118532668 single base substitution T G intron_variant PACA-AU 5 118532668 118532668 single base substitution T G upstream_gene_variant PACA-AU 5 118539506 118539506 single base substitution A T intron_variant PACA-AU 5 118539506 118539506 single base substitution A T upstream_gene_variant PACA-AU 5 118540853 118540853 single base substitution T A intron_variant PACA-AU 5 118540853 118540853 single base substitution T A upstream_gene_variant PACA-AU 5 118554213 118554213 single base substitution G A intron_variant PACA-AU 5 118555259 118555259 single base substitution A T intron_variant PACA-AU 5 118555260 118555267 deletion of <=200bp ATTAATTT - intron_variant PACA-AU 5 118555263 118555263 single base substitution A T intron_variant PACA-AU 5 118556622 118556622 single base substitution C T intron_variant PACA-AU 5 118563173 118563173 single base substitution G C intron_variant PACA-AU 5 118563634 118563634 single base substitution C T intron_variant PACA-AU 5 118567551 118567551 single base substitution G A intron_variant PACA-AU 5 118567551 118567551 single base substitution G A upstream_gene_variant PACA-AU 5 118568954 118568954 single base substitution G C intron_variant PACA-AU 5 118568954 118568954 single base substitution G C upstream_gene_variant PACA-AU 5 118578789 118578789 single base substitution G A intron_variant PACA-AU 5 118583849 118583849 single base substitution A C 3_prime_UTR_variant PACA-AU 5 118583849 118583849 single base substitution A C downstream_gene_variant PACA-AU 5 118583849 118583849 single base substitution A C exon_variant PACA-AU 5 118585964 118585964 single base substitution G T downstream_gene_variant PACA-AU 5 118585965 118585965 single base substitution C A downstream_gene_variant PACA-AU 5 118588585 118588585 single base substitution G T downstream_gene_variant PACA-CA 5 118369103 118369103 single base substitution G A upstream_gene_variant PACA-CA 5 118370053 118370053 deletion of <=200bp A - upstream_gene_variant PACA-CA 5 118375165 118375165 single base substitution G A intron_variant PACA-CA 5 118375316 118375316 single base substitution T C intron_variant PACA-CA 5 118377090 118377090 single base substitution A T intron_variant PACA-CA 5 118377446 118377446 single base substitution A G intron_variant PACA-CA 5 118378716 118378716 deletion of <=200bp T - intron_variant PACA-CA 5 118381781 118381781 single base substitution A T intron_variant PACA-CA 5 118387657 118387657 single base substitution G T intron_variant PACA-CA 5 118390382 118390382 single base substitution T A intron_variant PACA-CA 5 118399694 118399694 single base substitution C T intron_variant PACA-CA 5 118403033 118403033 single base substitution G A intron_variant PACA-CA 5 118403033 118403033 single base substitution G A upstream_gene_variant PACA-CA 5 118403780 118403780 single base substitution G A intron_variant PACA-CA 5 118403780 118403780 single base substitution G A upstream_gene_variant PACA-CA 5 118404210 118404210 single base substitution A C intron_variant PACA-CA 5 118404210 118404210 single base substitution A C upstream_gene_variant PACA-CA 5 118404890 118404890 deletion of <=200bp A - intron_variant PACA-CA 5 118404890 118404890 deletion of <=200bp A - upstream_gene_variant PACA-CA 5 118409675 118409675 single base substitution G A intron_variant PACA-CA 5 118410693 118410693 single base substitution T C intron_variant PACA-CA 5 118419452 118419452 single base substitution C G intron_variant PACA-CA 5 118420932 118420932 single base substitution G A intron_variant PACA-CA 5 118421053 118421053 single base substitution A G intron_variant PACA-CA 5 118421921 118421921 single base substitution G A intron_variant PACA-CA 5 118422446 118422446 insertion of <=200bp - T intron_variant PACA-CA 5 118425503 118425503 single base substitution T C intron_variant PACA-CA 5 118425829 118425829 single base substitution C T intron_variant PACA-CA 5 118429070 118429070 single base substitution A G intron_variant PACA-CA 5 118433363 118433363 single base substitution G C intron_variant PACA-CA 5 118433363 118433363 single base substitution G C upstream_gene_variant PACA-CA 5 118433496 118433496 single base substitution A G intron_variant PACA-CA 5 118433496 118433496 single base substitution A G upstream_gene_variant PACA-CA 5 118433877 118433877 single base substitution C G intron_variant PACA-CA 5 118433877 118433877 single base substitution C G upstream_gene_variant PACA-CA 5 118436086 118436086 single base substitution G A intron_variant PACA-CA 5 118436086 118436086 single base substitution G A upstream_gene_variant PACA-CA 5 118438791 118438791 single base substitution T A downstream_gene_variant PACA-CA 5 118438791 118438791 single base substitution T A intron_variant PACA-CA 5 118438791 118438791 single base substitution T A upstream_gene_variant PACA-CA 5 118438792 118438792 single base substitution A T downstream_gene_variant PACA-CA 5 118438792 118438792 single base substitution A T intron_variant PACA-CA 5 118438792 118438792 single base substitution A T upstream_gene_variant PACA-CA 5 118442151 118442151 single base substitution G C downstream_gene_variant PACA-CA 5 118442151 118442151 single base substitution G C intron_variant PACA-CA 5 118444045 118444045 single base substitution C T downstream_gene_variant PACA-CA 5 118444045 118444045 single base substitution C T intron_variant PACA-CA 5 118445749 118445749 deletion of <=200bp T - downstream_gene_variant PACA-CA 5 118445749 118445749 deletion of <=200bp T - intron_variant PACA-CA 5 118446964 118446964 single base substitution A G intron_variant PACA-CA 5 118450360 118450360 insertion of <=200bp - T intron_variant PACA-CA 5 118455457 118455457 single base substitution C T intron_variant PACA-CA 5 118456565 118456565 single base substitution G T intron_variant PACA-CA 5 118458799 118458799 single base substitution C T intron_variant PACA-CA 5 118460140 118460140 single base substitution A T intron_variant PACA-CA 5 118460140 118460140 single base substitution A T upstream_gene_variant PACA-CA 5 118461240 118461241 deletion of <=200bp TA - intron_variant PACA-CA 5 118461240 118461241 deletion of <=200bp TA - upstream_gene_variant PACA-CA 5 118464032 118464032 single base substitution A T intron_variant PACA-CA 5 118464032 118464032 single base substitution A T upstream_gene_variant PACA-CA 5 118468658 118468658 single base substitution C T downstream_gene_variant PACA-CA 5 118468658 118468658 single base substitution C T intron_variant PACA-CA 5 118468658 118468658 single base substitution C T upstream_gene_variant PACA-CA 5 118470143 118470143 single base substitution T C downstream_gene_variant PACA-CA 5 118470143 118470143 single base substitution T C intron_variant PACA-CA 5 118470872 118470872 single base substitution G T downstream_gene_variant PACA-CA 5 118470872 118470872 single base substitution G T intron_variant PACA-CA 5 118482313 118482313 single base substitution A G intron_variant PACA-CA 5 118485022 118485022 single base substitution C T downstream_gene_variant PACA-CA 5 118485022 118485022 single base substitution C T missense_variant P1167L 3500C>T PACA-CA 5 118488051 118488051 deletion of <=200bp T - downstream_gene_variant PACA-CA 5 118488051 118488051 deletion of <=200bp T - intron_variant PACA-CA 5 118488741 118488741 single base substitution C T intron_variant PACA-CA 5 118489060 118489060 single base substitution A G intron_variant PACA-CA 5 118492723 118492723 single base substitution C T intron_variant PACA-CA 5 118501267 118501267 single base substitution G A intron_variant PACA-CA 5 118501267 118501267 single base substitution G A upstream_gene_variant PACA-CA 5 118507428 118507428 single base substitution A G downstream_gene_variant PACA-CA 5 118507428 118507428 single base substitution A G intron_variant PACA-CA 5 118509033 118509033 single base substitution G A downstream_gene_variant PACA-CA 5 118509033 118509033 single base substitution G A intron_variant PACA-CA 5 118511312 118511312 single base substitution A C downstream_gene_variant PACA-CA 5 118511312 118511312 single base substitution A C intron_variant PACA-CA 5 118518064 118518064 single base substitution A G intron_variant PACA-CA 5 118518305 118518305 single base substitution A G intron_variant PACA-CA 5 118521594 118521594 single base substitution A G intron_variant PACA-CA 5 118522127 118522127 single base substitution A G intron_variant PACA-CA 5 118524638 118524638 single base substitution T G intron_variant PACA-CA 5 118525059 118525059 deletion of <=200bp A - intron_variant PACA-CA 5 118532392 118532392 single base substitution G C intron_variant PACA-CA 5 118532392 118532392 single base substitution G C upstream_gene_variant PACA-CA 5 118533160 118533160 single base substitution C G intron_variant PACA-CA 5 118533160 118533160 single base substitution C G upstream_gene_variant PACA-CA 5 118539538 118539538 single base substitution T G intron_variant PACA-CA 5 118539538 118539538 single base substitution T G upstream_gene_variant PACA-CA 5 118539606 118539606 single base substitution C G intron_variant PACA-CA 5 118539606 118539606 single base substitution C G upstream_gene_variant PACA-CA 5 118540421 118540421 single base substitution C T intron_variant PACA-CA 5 118540421 118540421 single base substitution C T upstream_gene_variant PACA-CA 5 118541918 118541918 single base substitution T C intron_variant PACA-CA 5 118541918 118541918 single base substitution T C upstream_gene_variant PACA-CA 5 118542183 118542183 single base substitution T C intron_variant PACA-CA 5 118542183 118542183 single base substitution T C upstream_gene_variant PACA-CA 5 118543206 118543206 single base substitution C T downstream_gene_variant PACA-CA 5 118543206 118543206 single base substitution C T intron_variant PACA-CA 5 118543713 118543713 single base substitution A C downstream_gene_variant PACA-CA 5 118543713 118543713 single base substitution A C intron_variant PACA-CA 5 118546153 118546153 single base substitution A G downstream_gene_variant PACA-CA 5 118546153 118546153 single base substitution A G intron_variant PACA-CA 5 118550366 118550366 single base substitution T G intron_variant PACA-CA 5 118552954 118552954 single base substitution A G intron_variant PACA-CA 5 118554748 118554748 single base substitution G A intron_variant PACA-CA 5 118555259 118555259 single base substitution A T intron_variant PACA-CA 5 118555263 118555263 single base substitution A T intron_variant PACA-CA 5 118555267 118555267 single base substitution T A intron_variant PACA-CA 5 118556347 118556347 single base substitution G A intron_variant PACA-CA 5 118557096 118557096 single base substitution T A intron_variant PACA-CA 5 118559093 118559093 single base substitution G A intron_variant PACA-CA 5 118564234 118564237 deletion of <=200bp ACAA - intron_variant PACA-CA 5 118566885 118566885 single base substitution C A intron_variant PACA-CA 5 118569967 118569967 single base substitution A G intron_variant PACA-CA 5 118569967 118569967 single base substitution A G upstream_gene_variant PACA-CA 5 118572133 118572133 single base substitution C T exon_variant PACA-CA 5 118572133 118572133 single base substitution C T intron_variant PACA-CA 5 118574219 118574219 single base substitution A G downstream_gene_variant PACA-CA 5 118574219 118574219 single base substitution A G intron_variant PACA-CA 5 118574823 118574823 deletion of <=200bp T - downstream_gene_variant PACA-CA 5 118574823 118574823 deletion of <=200bp T - intron_variant PACA-CA 5 118574914 118574914 deletion of <=200bp C - downstream_gene_variant PACA-CA 5 118574914 118574914 deletion of <=200bp C - intron_variant PACA-CA 5 118576775 118576775 single base substitution G T downstream_gene_variant PACA-CA 5 118576775 118576775 single base substitution G T intron_variant PACA-CA 5 118576799 118576799 single base substitution A G downstream_gene_variant PACA-CA 5 118576799 118576799 single base substitution A G intron_variant PACA-CA 5 118578638 118578638 single base substitution T G intron_variant PACA-CA 5 118579197 118579197 insertion of <=200bp - T intron_variant PACA-CA 5 118582012 118582012 single base substitution A G intron_variant PACA-CA 5 118584852 118584852 single base substitution G A downstream_gene_variant PACA-CA 5 118587915 118587915 deletion of <=200bp G - downstream_gene_variant PACA-CA 5 118589401 118589401 single base substitution A G downstream_gene_variant PAEN-AU 5 118407162 118407162 single base substitution A C intron_variant PAEN-AU 5 118407162 118407162 single base substitution A C upstream_gene_variant PAEN-AU 5 118408894 118408894 single base substitution A G intron_variant PAEN-AU 5 118411607 118411607 single base substitution A G intron_variant PAEN-AU 5 118508391 118508391 single base substitution A G downstream_gene_variant PAEN-AU 5 118508391 118508391 single base substitution A G intron_variant PAEN-AU 5 118544025 118544025 single base substitution C T downstream_gene_variant PAEN-AU 5 118544025 118544025 single base substitution C T intron_variant PAEN-AU 5 118550248 118550248 single base substitution T G intron_variant PAEN-IT 5 118374321 118374321 single base substitution C A intron_variant PAEN-IT 5 118485186 118485186 single base substitution G T downstream_gene_variant PAEN-IT 5 118485186 118485186 single base substitution G T missense_variant V1222F 3664G>T PAEN-IT 5 118516326 118516326 single base substitution G T intron_variant PAEN-IT 5 118536622 118536622 single base substitution G A intron_variant PAEN-IT 5 118536883 118536883 single base substitution G A intron_variant PAEN-IT 5 118540086 118540086 single base substitution G A intron_variant PAEN-IT 5 118540086 118540086 single base substitution G A upstream_gene_variant PAEN-IT 5 118541537 118541537 single base substitution T G intron_variant PAEN-IT 5 118541537 118541537 single base substitution T G upstream_gene_variant PAEN-IT 5 118549440 118549440 single base substitution A T intron_variant PBCA-DE 5 118374825 118374825 single base substitution C T intron_variant PBCA-DE 5 118376075 118376075 single base substitution G A intron_variant PBCA-DE 5 118378581 118378609 deletion of <=200bp AGATAAAGTTTAGATTAAGGGCTGTGTTT - intron_variant PBCA-DE 5 118384739 118384739 insertion of <=200bp - T intron_variant PBCA-DE 5 118385089 118385099 deletion of <=200bp TAATCTAGCTA - intron_variant PBCA-DE 5 118392054 118392054 single base substitution C T intron_variant PBCA-DE 5 118400953 118400953 single base substitution T G intron_variant PBCA-DE 5 118401569 118401570 deletion of <=200bp GT - intron_variant PBCA-DE 5 118405760 118405760 deletion of <=200bp A - intron_variant PBCA-DE 5 118405760 118405760 deletion of <=200bp A - upstream_gene_variant PBCA-DE 5 118412097 118412097 insertion of <=200bp - T intron_variant PBCA-DE 5 118414381 118414381 single base substitution C T intron_variant PBCA-DE 5 118422201 118422203 deletion of <=200bp TTG - intron_variant PBCA-DE 5 118423749 118423749 single base substitution C T intron_variant PBCA-DE 5 118424681 118424681 insertion of <=200bp - T intron_variant PBCA-DE 5 118427330 118427330 single base substitution G A intron_variant PBCA-DE 5 118438791 118438791 single base substitution T A downstream_gene_variant PBCA-DE 5 118438791 118438791 single base substitution T A intron_variant PBCA-DE 5 118438791 118438791 single base substitution T A upstream_gene_variant PBCA-DE 5 118449032 118449032 single base substitution G A intron_variant PBCA-DE 5 118456057 118456057 single base substitution G T intron_variant PBCA-DE 5 118456995 118456995 single base substitution T C intron_variant PBCA-DE 5 118470082 118470082 single base substitution T A downstream_gene_variant PBCA-DE 5 118470082 118470082 single base substitution T A missense_variant S792T 2374T>A PBCA-DE 5 118470082 118470082 single base substitution T A splice_region_variant PBCA-DE 5 118476075 118476075 single base substitution C A intron_variant PBCA-DE 5 118476076 118476076 single base substitution C A intron_variant PBCA-DE 5 118494634 118494634 insertion of <=200bp - T intron_variant PBCA-DE 5 118495072 118495072 single base substitution G A intron_variant PBCA-DE 5 118495834 118495835 deletion of <=200bp AT - intron_variant PBCA-DE 5 118499588 118499588 single base substitution G A intron_variant PBCA-DE 5 118499588 118499588 single base substitution G A upstream_gene_variant PBCA-DE 5 118504994 118504994 insertion of <=200bp - A intron_variant PBCA-DE 5 118504994 118504994 insertion of <=200bp - A upstream_gene_variant PBCA-DE 5 118506884 118506884 single base substitution T C downstream_gene_variant PBCA-DE 5 118506884 118506884 single base substitution T C exon_variant PBCA-DE 5 118506884 118506884 single base substitution T C missense_variant F2133S 6398T>C PBCA-DE 5 118509414 118509415 deletion of <=200bp TA - downstream_gene_variant PBCA-DE 5 118509414 118509415 deletion of <=200bp TA - intron_variant PBCA-DE 5 118509969 118509969 single base substitution C T downstream_gene_variant PBCA-DE 5 118509969 118509969 single base substitution C T intron_variant PBCA-DE 5 118510897 118510897 insertion of <=200bp - A downstream_gene_variant PBCA-DE 5 118510897 118510897 insertion of <=200bp - A intron_variant PBCA-DE 5 118517592 118517592 single base substitution G A intron_variant PBCA-DE 5 118523795 118523795 single base substitution C G intron_variant PBCA-DE 5 118528487 118528487 single base substitution T C intron_variant PBCA-DE 5 118528487 118528487 single base substitution T C upstream_gene_variant PBCA-DE 5 118530758 118530758 insertion of <=200bp - A intron_variant PBCA-DE 5 118530758 118530758 insertion of <=200bp - A upstream_gene_variant PBCA-DE 5 118530880 118530880 single base substitution A T intron_variant PBCA-DE 5 118530880 118530880 single base substitution A T upstream_gene_variant PBCA-DE 5 118532282 118532282 single base substitution C T intron_variant PBCA-DE 5 118532282 118532282 single base substitution C T upstream_gene_variant PBCA-DE 5 118532942 118532942 single base substitution C G intron_variant PBCA-DE 5 118532942 118532942 single base substitution C G upstream_gene_variant PBCA-DE 5 118537438 118537438 single base substitution C T intron_variant PBCA-DE 5 118537438 118537438 single base substitution C T upstream_gene_variant PBCA-DE 5 118546672 118546672 single base substitution G A downstream_gene_variant PBCA-DE 5 118546672 118546672 single base substitution G A intron_variant PBCA-DE 5 118549662 118549662 single base substitution T C intron_variant PBCA-DE 5 118568504 118568504 insertion of <=200bp - A intron_variant PBCA-DE 5 118568504 118568504 insertion of <=200bp - A upstream_gene_variant PBCA-DE 5 118584852 118584852 single base substitution G A downstream_gene_variant PRAD-CA 5 118368520 118368520 single base substitution C G upstream_gene_variant PRAD-CA 5 118417715 118417715 single base substitution T C intron_variant PRAD-CA 5 118417717 118417717 single base substitution C T intron_variant PRAD-CA 5 118423885 118423885 single base substitution C G intron_variant PRAD-CA 5 118424930 118424930 single base substitution C T intron_variant PRAD-CA 5 118447048 118447048 single base substitution G T intron_variant PRAD-CA 5 118449987 118449987 single base substitution A T intron_variant PRAD-CA 5 118456595 118456595 single base substitution C A intron_variant PRAD-CA 5 118465804 118465804 single base substitution T G downstream_gene_variant PRAD-CA 5 118465804 118465804 single base substitution T G intron_variant PRAD-CA 5 118465804 118465804 single base substitution T G upstream_gene_variant PRAD-CA 5 118476519 118476519 single base substitution A T intron_variant PRAD-CA 5 118478767 118478767 single base substitution C T intron_variant PRAD-CA 5 118484804 118484804 single base substitution G A downstream_gene_variant PRAD-CA 5 118484804 118484804 single base substitution G A synonymous_variant E1094E 3282G>A PRAD-CA 5 118490771 118490771 single base substitution G A intron_variant PRAD-CA 5 118495671 118495671 single base substitution A C intron_variant PRAD-CA 5 118497016 118497016 single base substitution G C intron_variant PRAD-CA 5 118499702 118499702 single base substitution T G intron_variant PRAD-CA 5 118499702 118499702 single base substitution T G upstream_gene_variant PRAD-CA 5 118509403 118509403 single base substitution A G downstream_gene_variant PRAD-CA 5 118509403 118509403 single base substitution A G intron_variant PRAD-CA 5 118515787 118515787 single base substitution T A intron_variant PRAD-CA 5 118528866 118528866 single base substitution G A intron_variant PRAD-CA 5 118528866 118528866 single base substitution G A upstream_gene_variant PRAD-CA 5 118533828 118533828 single base substitution C G intron_variant PRAD-CA 5 118540072 118540072 single base substitution G C intron_variant PRAD-CA 5 118540072 118540072 single base substitution G C upstream_gene_variant PRAD-CA 5 118543059 118543059 single base substitution T G downstream_gene_variant PRAD-CA 5 118543059 118543059 single base substitution T G intron_variant PRAD-CA 5 118545112 118545112 single base substitution G A downstream_gene_variant PRAD-CA 5 118545112 118545112 single base substitution G A intron_variant PRAD-CA 5 118555242 118555242 single base substitution T C intron_variant PRAD-CA 5 118563089 118563089 single base substitution G C intron_variant PRAD-CA 5 118577700 118577700 single base substitution C T downstream_gene_variant PRAD-CA 5 118577700 118577700 single base substitution C T intron_variant PRAD-CA 5 118581718 118581718 single base substitution A G intron_variant PRAD-UK 5 118377091 118377091 insertion of <=200bp - T intron_variant PRAD-UK 5 118396434 118396434 insertion of <=200bp - C intron_variant PRAD-UK 5 118421028 118421043 deletion of <=200bp AAAATAAATAAATAAA - intron_variant PRAD-UK 5 118423429 118423429 single base substitution A G intron_variant PRAD-UK 5 118426121 118426121 single base substitution T A intron_variant PRAD-UK 5 118426968 118426982 deletion of <=200bp CACAGCTCACTGCAG - intron_variant PRAD-UK 5 118428618 118428618 single base substitution C G intron_variant PRAD-UK 5 118438225 118438225 deletion of <=200bp T - downstream_gene_variant PRAD-UK 5 118438225 118438225 deletion of <=200bp T - intron_variant PRAD-UK 5 118438225 118438225 deletion of <=200bp T - upstream_gene_variant PRAD-UK 5 118477904 118477904 single base substitution T A intron_variant PRAD-UK 5 118478462 118478462 single base substitution C G intron_variant PRAD-UK 5 118479263 118479263 single base substitution C A intron_variant PRAD-UK 5 118482887 118482887 single base substitution G C intron_variant PRAD-UK 5 118495833 118495833 single base substitution G T intron_variant PRAD-UK 5 118498257 118498257 single base substitution T C intron_variant PRAD-UK 5 118500034 118500035 deletion of <=200bp AC - intron_variant PRAD-UK 5 118500034 118500035 deletion of <=200bp AC - upstream_gene_variant PRAD-UK 5 118524705 118524705 single base substitution A G intron_variant PRAD-UK 5 118524770 118524770 single base substitution T G intron_variant PRAD-UK 5 118526598 118526601 deletion of <=200bp GTTT - intron_variant PRAD-UK 5 118531889 118531889 single base substitution C G intron_variant PRAD-UK 5 118531889 118531889 single base substitution C G upstream_gene_variant PRAD-UK 5 118552166 118552166 deletion of <=200bp A - intron_variant PRAD-UK 5 118566179 118566179 insertion of <=200bp - ATATA intron_variant PRAD-UK 5 118566921 118566921 single base substitution C T intron_variant PRAD-UK 5 118575812 118575812 single base substitution T A downstream_gene_variant PRAD-UK 5 118575812 118575812 single base substitution T A intron_variant PRAD-UK 5 118577526 118577526 single base substitution G C downstream_gene_variant PRAD-UK 5 118577526 118577526 single base substitution G C intron_variant PRAD-UK 5 118580233 118580233 single base substitution G C exon_variant PRAD-UK 5 118580233 118580233 single base substitution G C missense_variant E2941Q 8821G>C PRAD-UK 5 118580233 118580233 single base substitution G C missense_variant E2962Q 8884G>C PRAD-UK 5 118584733 118584733 single base substitution A G 3_prime_UTR_variant PRAD-UK 5 118584733 118584733 single base substitution A G downstream_gene_variant PRAD-UK 5 118584733 118584733 single base substitution A G exon_variant PRAD-US 5 118469852 118469852 single base substitution C G downstream_gene_variant PRAD-US 5 118469852 118469852 single base substitution C G missense_variant L745V 2233C>G PRAD-US 5 118469852 118469852 single base substitution C G upstream_gene_variant PRAD-US 5 118487710 118487710 single base substitution C T downstream_gene_variant PRAD-US 5 118487710 118487710 single base substitution C T stop_gained R1561* 4681C>T PRAD-US 5 118507503 118507503 insertion of <=200bp - T downstream_gene_variant PRAD-US 5 118507503 118507503 insertion of <=200bp - T exon_variant PRAD-US 5 118507503 118507503 insertion of <=200bp - T frameshift_variant L2174S? PRAD-US 5 118533574 118533574 single base substitution C A exon_variant PRAD-US 5 118533574 118533574 single base substitution C A synonymous_variant T2556T 7668C>A READ-US 5 118437654 118437654 single base substitution A G exon_variant READ-US 5 118437654 118437654 single base substitution A G missense_variant I80V 238A>G READ-US 5 118437654 118437654 single base substitution A G upstream_gene_variant READ-US 5 118451982 118451982 single base substitution C T exon_variant READ-US 5 118451982 118451982 single base substitution C T stop_gained R232* 694C>T READ-US 5 118469391 118469391 single base substitution G A downstream_gene_variant READ-US 5 118469391 118469391 single base substitution G A missense_variant S591N 1772G>A READ-US 5 118469391 118469391 single base substitution G A upstream_gene_variant READ-US 5 118469808 118469808 single base substitution C T downstream_gene_variant READ-US 5 118469808 118469808 single base substitution C T missense_variant S730F 2189C>T READ-US 5 118469808 118469808 single base substitution C T upstream_gene_variant READ-US 5 118485319 118485319 single base substitution T C downstream_gene_variant READ-US 5 118485319 118485319 single base substitution T C missense_variant I1266T 3797T>C READ-US 5 118485540 118485540 single base substitution C T downstream_gene_variant READ-US 5 118485540 118485540 single base substitution C T missense_variant R1340W 4018C>T READ-US 5 118506185 118506185 single base substitution C T exon_variant READ-US 5 118506185 118506185 single base substitution C T missense_variant T1900I 5699C>T READ-US 5 118506185 118506185 single base substitution C T upstream_gene_variant READ-US 5 118511034 118511034 single base substitution T C downstream_gene_variant READ-US 5 118511034 118511034 single base substitution T C splice_donor_variant READ-US 5 118513709 118513709 single base substitution G A missense_variant R2302Q 6905G>A READ-US 5 118513721 118513721 single base substitution C A missense_variant S2306Y 6917C>A READ-US 5 118556212 118556212 single base substitution G T exon_variant READ-US 5 118556212 118556212 single base substitution G T stop_gained E2666* 7996G>T READ-US 5 118556212 118556212 single base substitution G T stop_gained E2687* 8059G>T READ-US 5 118580198 118580198 single base substitution C A exon_variant READ-US 5 118580198 118580198 single base substitution C A missense_variant S2929Y 8786C>A READ-US 5 118580198 118580198 single base substitution C A missense_variant S2950Y 8849C>A READ-US 5 118580212 118580212 single base substitution G A exon_variant READ-US 5 118580212 118580212 single base substitution G A missense_variant V2934I 8800G>A READ-US 5 118580212 118580212 single base substitution G A missense_variant V2955I 8863G>A RECA-EU 5 118371458 118371458 single base substitution C A upstream_gene_variant RECA-EU 5 118380135 118380135 single base substitution T A intron_variant RECA-EU 5 118397657 118397657 single base substitution T C intron_variant RECA-EU 5 118406243 118406243 single base substitution C T intron_variant RECA-EU 5 118406243 118406243 single base substitution C T upstream_gene_variant RECA-EU 5 118414380 118414380 single base substitution C T intron_variant RECA-EU 5 118432963 118432963 single base substitution A G intron_variant RECA-EU 5 118432963 118432963 single base substitution A G upstream_gene_variant RECA-EU 5 118450093 118450093 single base substitution A C intron_variant RECA-EU 5 118455930 118455930 single base substitution G A intron_variant RECA-EU 5 118466299 118466299 single base substitution A C downstream_gene_variant RECA-EU 5 118466299 118466299 single base substitution A C intron_variant RECA-EU 5 118466299 118466299 single base substitution A C upstream_gene_variant RECA-EU 5 118476235 118476235 single base substitution C A intron_variant RECA-EU 5 118490368 118490368 single base substitution G A intron_variant RECA-EU 5 118492348 118492348 single base substitution T A intron_variant RECA-EU 5 118495108 118495108 single base substitution A G intron_variant RECA-EU 5 118499606 118499606 single base substitution C T intron_variant RECA-EU 5 118499606 118499606 single base substitution C T upstream_gene_variant RECA-EU 5 118500340 118500340 single base substitution A T missense_variant N1614I 4841A>T RECA-EU 5 118500340 118500340 single base substitution A T upstream_gene_variant RECA-EU 5 118511696 118511696 single base substitution A C downstream_gene_variant RECA-EU 5 118511696 118511696 single base substitution A C intron_variant RECA-EU 5 118514372 118514372 single base substitution C G intron_variant RECA-EU 5 118516749 118516749 single base substitution A G intron_variant RECA-EU 5 118518443 118518443 single base substitution T A intron_variant RECA-EU 5 118521811 118521811 single base substitution A G intron_variant RECA-EU 5 118529904 118529904 single base substitution A T intron_variant RECA-EU 5 118529904 118529904 single base substitution A T upstream_gene_variant RECA-EU 5 118538192 118538192 single base substitution G T intron_variant RECA-EU 5 118538192 118538192 single base substitution G T upstream_gene_variant RECA-EU 5 118545223 118545223 single base substitution T G downstream_gene_variant RECA-EU 5 118545223 118545223 single base substitution T G intron_variant RECA-EU 5 118549918 118549918 single base substitution T A intron_variant RECA-EU 5 118552272 118552272 single base substitution T C intron_variant RECA-EU 5 118555982 118555982 single base substitution T G intron_variant RECA-EU 5 118559715 118559715 single base substitution T G intron_variant RECA-EU 5 118559851 118559851 single base substitution A G intron_variant RECA-EU 5 118568841 118568841 single base substitution T C intron_variant RECA-EU 5 118568841 118568841 single base substitution T C upstream_gene_variant RECA-EU 5 118569248 118569248 single base substitution C T intron_variant RECA-EU 5 118569248 118569248 single base substitution C T upstream_gene_variant RECA-EU 5 118569626 118569626 single base substitution A G intron_variant RECA-EU 5 118569626 118569626 single base substitution A G upstream_gene_variant RECA-EU 5 118571761 118571761 single base substitution A T intron_variant RECA-EU 5 118571761 118571761 single base substitution A T upstream_gene_variant RECA-EU 5 118574834 118574834 single base substitution G A downstream_gene_variant RECA-EU 5 118574834 118574834 single base substitution G A intron_variant RECA-EU 5 118579332 118579332 single base substitution C A intron_variant SKCA-BR 5 118372958 118372958 single base substitution A T upstream_gene_variant SKCA-BR 5 118373068 118373068 single base substitution G A upstream_gene_variant SKCA-BR 5 118373725 118373725 single base substitution T C intron_variant SKCA-BR 5 118374821 118374825 deletion of <=200bp TTTAC - intron_variant SKCA-BR 5 118374825 118374825 insertion of <=200bp - CTTAT intron_variant SKCA-BR 5 118374825 118374825 single base substitution C T intron_variant SKCA-BR 5 118374865 118374865 single base substitution G A intron_variant SKCA-BR 5 118374946 118374946 single base substitution G A intron_variant SKCA-BR 5 118375967 118375985 deletion of <=200bp TTTTATATATATATATATA - intron_variant SKCA-BR 5 118376007 118376015 deletion of <=200bp ATATATATT - intron_variant SKCA-BR 5 118376013 118376013 single base substitution A T intron_variant SKCA-BR 5 118376013 118376014 deletion of <=200bp AT - intron_variant SKCA-BR 5 118377090 118377090 single base substitution A T intron_variant SKCA-BR 5 118378075 118378075 single base substitution T A intron_variant SKCA-BR 5 118383061 118383069 deletion of <=200bp CAAAAAAAA - intron_variant SKCA-BR 5 118384100 118384100 single base substitution A C intron_variant SKCA-BR 5 118386846 118386846 single base substitution A G intron_variant SKCA-BR 5 118387096 118387096 single base substitution T C intron_variant SKCA-BR 5 118389152 118389152 single base substitution G A intron_variant SKCA-BR 5 118391649 118391649 single base substitution C T intron_variant SKCA-BR 5 118396941 118396941 single base substitution T G intron_variant SKCA-BR 5 118398138 118398138 single base substitution A G intron_variant SKCA-BR 5 118398143 118398143 single base substitution A C intron_variant SKCA-BR 5 118398836 118398836 insertion of <=200bp - ATATATATAT intron_variant SKCA-BR 5 118398846 118398846 single base substitution T A intron_variant SKCA-BR 5 118398847 118398865 deletion of <=200bp ATATATATATTTTATATAT - intron_variant SKCA-BR 5 118398854 118398874 deletion of <=200bp TATTTTATATATTATATATTA - intron_variant SKCA-BR 5 118398856 118398856 single base substitution T A intron_variant SKCA-BR 5 118398858 118398858 single base substitution T A intron_variant SKCA-BR 5 118398875 118398875 single base substitution A T intron_variant SKCA-BR 5 118398885 118398885 single base substitution A T intron_variant SKCA-BR 5 118398949 118398949 single base substitution T A intron_variant SKCA-BR 5 118398956 118398956 single base substitution T A intron_variant SKCA-BR 5 118398957 118398957 single base substitution A T intron_variant SKCA-BR 5 118400784 118400784 single base substitution G A intron_variant SKCA-BR 5 118401872 118401872 single base substitution A T intron_variant SKCA-BR 5 118402532 118402532 single base substitution G T intron_variant SKCA-BR 5 118402532 118402532 single base substitution G T upstream_gene_variant SKCA-BR 5 118402538 118402538 single base substitution A G intron_variant SKCA-BR 5 118402538 118402538 single base substitution A G upstream_gene_variant SKCA-BR 5 118404974 118404975 deletion of <=200bp GT - intron_variant SKCA-BR 5 118404974 118404975 deletion of <=200bp GT - upstream_gene_variant SKCA-BR 5 118409966 118409966 single base substitution T A intron_variant SKCA-BR 5 118410936 118410937 deletion of <=200bp CT - intron_variant SKCA-BR 5 118411456 118411456 single base substitution C T intron_variant SKCA-BR 5 118414989 118414989 single base substitution C G intron_variant SKCA-BR 5 118417705 118417717 deletion of <=200bp TATATATATATAC - intron_variant SKCA-BR 5 118417715 118417715 insertion of <=200bp - TATATAC intron_variant SKCA-BR 5 118417717 118417717 single base substitution C T intron_variant SKCA-BR 5 118422702 118422702 single base substitution G C intron_variant SKCA-BR 5 118424988 118424988 insertion of <=200bp - TA intron_variant SKCA-BR 5 118424988 118424988 insertion of <=200bp - TATA intron_variant SKCA-BR 5 118424989 118424989 single base substitution T A intron_variant SKCA-BR 5 118424990 118424990 single base substitution T A intron_variant SKCA-BR 5 118425321 118425322 deletion of <=200bp CT - intron_variant SKCA-BR 5 118425839 118425839 single base substitution C T intron_variant SKCA-BR 5 118429464 118429464 single base substitution C T intron_variant SKCA-BR 5 118429547 118429547 single base substitution A C intron_variant SKCA-BR 5 118436639 118436640 deletion of <=200bp AT - intron_variant SKCA-BR 5 118436639 118436640 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 5 118438318 118438318 single base substitution C T downstream_gene_variant SKCA-BR 5 118438318 118438318 single base substitution C T intron_variant SKCA-BR 5 118438318 118438318 single base substitution C T upstream_gene_variant SKCA-BR 5 118439012 118439012 single base substitution C T downstream_gene_variant SKCA-BR 5 118439012 118439012 single base substitution C T intron_variant SKCA-BR 5 118439012 118439012 single base substitution C T upstream_gene_variant SKCA-BR 5 118440487 118440487 single base substitution C T downstream_gene_variant SKCA-BR 5 118440487 118440487 single base substitution C T intron_variant SKCA-BR 5 118440487 118440487 single base substitution C T upstream_gene_variant SKCA-BR 5 118440905 118440905 single base substitution C T downstream_gene_variant SKCA-BR 5 118440905 118440905 single base substitution C T exon_variant SKCA-BR 5 118440905 118440905 single base substitution C T stop_gained Q106* 316C>T SKCA-BR 5 118440905 118440905 single base substitution C T upstream_gene_variant SKCA-BR 5 118443704 118443705 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 5 118443704 118443705 deletion of <=200bp AT - intron_variant SKCA-BR 5 118444118 118444118 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 5 118444118 118444118 insertion of <=200bp - CT intron_variant SKCA-BR 5 118451980 118451980 single base substitution C G exon_variant SKCA-BR 5 118451980 118451980 single base substitution C G missense_variant P231R 692C>G SKCA-BR 5 118455229 118455230 deletion of <=200bp AT - intron_variant SKCA-BR 5 118457925 118457925 single base substitution A C intron_variant SKCA-BR 5 118458247 118458247 single base substitution G A intron_variant SKCA-BR 5 118462654 118462655 deletion of <=200bp CT - intron_variant SKCA-BR 5 118462654 118462655 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 5 118468698 118468698 single base substitution T G downstream_gene_variant SKCA-BR 5 118468698 118468698 single base substitution T G intron_variant SKCA-BR 5 118468698 118468698 single base substitution T G upstream_gene_variant SKCA-BR 5 118469761 118469761 single base substitution G C downstream_gene_variant SKCA-BR 5 118469761 118469761 single base substitution G C synonymous_variant G714G 2142G>C SKCA-BR 5 118469761 118469761 single base substitution G C upstream_gene_variant SKCA-BR 5 118473008 118473008 single base substitution G A downstream_gene_variant SKCA-BR 5 118473008 118473008 single base substitution G A intron_variant SKCA-BR 5 118476798 118476798 single base substitution C T intron_variant SKCA-BR 5 118480534 118480534 single base substitution C T intron_variant SKCA-BR 5 118483882 118483882 single base substitution A G downstream_gene_variant SKCA-BR 5 118483882 118483882 single base substitution A G intron_variant SKCA-BR 5 118484804 118484804 single base substitution G A downstream_gene_variant SKCA-BR 5 118484804 118484804 single base substitution G A synonymous_variant E1094E 3282G>A SKCA-BR 5 118485477 118485477 single base substitution T C downstream_gene_variant SKCA-BR 5 118485477 118485477 single base substitution T C missense_variant S1319P 3955T>C SKCA-BR 5 118486018 118486018 single base substitution C A downstream_gene_variant SKCA-BR 5 118486018 118486018 single base substitution C A missense_variant P1499Q 4496C>A SKCA-BR 5 118486839 118486839 single base substitution T C downstream_gene_variant SKCA-BR 5 118486839 118486839 single base substitution T C intron_variant SKCA-BR 5 118503855 118503855 single base substitution C T intron_variant SKCA-BR 5 118503855 118503855 single base substitution C T upstream_gene_variant SKCA-BR 5 118504273 118504273 single base substitution C T intron_variant SKCA-BR 5 118504273 118504273 single base substitution C T upstream_gene_variant SKCA-BR 5 118509037 118509037 single base substitution A C downstream_gene_variant SKCA-BR 5 118509037 118509037 single base substitution A C intron_variant SKCA-BR 5 118509413 118509415 deletion of <=200bp GTA - downstream_gene_variant SKCA-BR 5 118509413 118509415 deletion of <=200bp GTA - intron_variant SKCA-BR 5 118509461 118509461 single base substitution A G downstream_gene_variant SKCA-BR 5 118509461 118509461 single base substitution A G intron_variant SKCA-BR 5 118514955 118514955 single base substitution C T intron_variant SKCA-BR 5 118515001 118515002 deletion of <=200bp CA - intron_variant SKCA-BR 5 118516646 118516646 single base substitution T G intron_variant SKCA-BR 5 118522943 118522943 single base substitution C T intron_variant SKCA-BR 5 118531279 118531279 single base substitution G A intron_variant SKCA-BR 5 118531279 118531279 single base substitution G A upstream_gene_variant SKCA-BR 5 118532132 118532132 single base substitution C G missense_variant F2508L 7524C>G SKCA-BR 5 118532132 118532132 single base substitution C G upstream_gene_variant SKCA-BR 5 118535183 118535183 single base substitution C T intron_variant SKCA-BR 5 118536417 118536417 single base substitution T G intron_variant SKCA-BR 5 118538574 118538574 insertion of <=200bp - ATT intron_variant SKCA-BR 5 118538574 118538574 insertion of <=200bp - ATT upstream_gene_variant SKCA-BR 5 118538578 118538578 insertion of <=200bp - TTA intron_variant SKCA-BR 5 118538578 118538578 insertion of <=200bp - TTA upstream_gene_variant SKCA-BR 5 118542009 118542009 single base substitution C T intron_variant SKCA-BR 5 118542009 118542009 single base substitution C T upstream_gene_variant SKCA-BR 5 118543244 118543244 single base substitution C T downstream_gene_variant SKCA-BR 5 118543244 118543244 single base substitution C T intron_variant SKCA-BR 5 118544624 118544624 single base substitution T A downstream_gene_variant SKCA-BR 5 118544624 118544624 single base substitution T A intron_variant SKCA-BR 5 118545036 118545036 single base substitution C T downstream_gene_variant SKCA-BR 5 118545036 118545036 single base substitution C T intron_variant SKCA-BR 5 118545043 118545043 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 5 118545043 118545043 insertion of <=200bp - AT intron_variant SKCA-BR 5 118546699 118546699 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 5 118546699 118546699 insertion of <=200bp - AT intron_variant SKCA-BR 5 118549384 118549384 single base substitution C T intron_variant SKCA-BR 5 118549926 118549926 single base substitution G T intron_variant SKCA-BR 5 118555522 118555522 single base substitution T C intron_variant SKCA-BR 5 118559631 118559631 single base substitution C T intron_variant SKCA-BR 5 118564855 118564855 insertion of <=200bp - GA intron_variant SKCA-BR 5 118571395 118571395 single base substitution T A intron_variant SKCA-BR 5 118571395 118571395 single base substitution T A upstream_gene_variant SKCA-BR 5 118571436 118571436 single base substitution T C intron_variant SKCA-BR 5 118571436 118571436 single base substitution T C upstream_gene_variant SKCA-BR 5 118571439 118571439 single base substitution C T intron_variant SKCA-BR 5 118571439 118571439 single base substitution C T upstream_gene_variant SKCA-BR 5 118571440 118571440 single base substitution A C intron_variant SKCA-BR 5 118571440 118571440 single base substitution A C upstream_gene_variant SKCA-BR 5 118573151 118573151 single base substitution C T downstream_gene_variant SKCA-BR 5 118573151 118573151 single base substitution C T intron_variant SKCA-BR 5 118573381 118573381 single base substitution C T downstream_gene_variant SKCA-BR 5 118573381 118573381 single base substitution C T intron_variant SKCA-BR 5 118575654 118575654 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 5 118575654 118575654 insertion of <=200bp - CA intron_variant SKCA-BR 5 118577006 118577006 single base substitution C T downstream_gene_variant SKCA-BR 5 118577006 118577006 single base substitution C T intron_variant SKCA-BR 5 118580030 118580030 single base substitution G T intron_variant SKCA-BR 5 118588704 118588704 insertion of <=200bp - GC downstream_gene_variant SKCM-US 5 118454697 118454697 single base substitution G A intron_variant SKCM-US 5 118454697 118454697 single base substitution G A missense_variant E311K 931G>A SKCM-US 5 118456684 118456684 single base substitution C T exon_variant SKCM-US 5 118456684 118456684 single base substitution C T missense_variant R318C 952C>T SKCM-US 5 118464914 118464914 single base substitution C G exon_variant SKCM-US 5 118464914 118464914 single base substitution C G missense_variant L371V 1111C>G SKCM-US 5 118469492 118469492 single base substitution C T downstream_gene_variant SKCM-US 5 118469492 118469492 single base substitution C T missense_variant L625F 1873C>T SKCM-US 5 118469492 118469492 single base substitution C T upstream_gene_variant SKCM-US 5 118484445 118484445 single base substitution T A downstream_gene_variant SKCM-US 5 118484445 118484445 single base substitution T A missense_variant S975T 2923T>A SKCM-US 5 118484798 118484798 single base substitution C T downstream_gene_variant SKCM-US 5 118484798 118484798 single base substitution C T synonymous_variant V1092V 3276C>T SKCM-US 5 118484982 118484982 single base substitution C T downstream_gene_variant SKCM-US 5 118484982 118484982 single base substitution C T synonymous_variant L1154L 3460C>T SKCM-US 5 118485031 118485031 single base substitution G A downstream_gene_variant SKCM-US 5 118485031 118485031 single base substitution G A missense_variant G1170D 3509G>A SKCM-US 5 118485072 118485072 single base substitution C T downstream_gene_variant SKCM-US 5 118485072 118485072 single base substitution C T missense_variant P1184S 3550C>T SKCM-US 5 118485077 118485077 single base substitution C T downstream_gene_variant SKCM-US 5 118485077 118485077 single base substitution C T synonymous_variant L1185L 3555C>T SKCM-US 5 118485177 118485177 single base substitution T G downstream_gene_variant SKCM-US 5 118485177 118485177 single base substitution T G missense_variant L1219V 3655T>G SKCM-US 5 118485689 118485689 single base substitution C T downstream_gene_variant SKCM-US 5 118485689 118485689 single base substitution C T synonymous_variant F1389F 4167C>T SKCM-US 5 118485868 118485868 single base substitution C T downstream_gene_variant SKCM-US 5 118485868 118485868 single base substitution C T missense_variant T1449I 4346C>T SKCM-US 5 118487677 118487677 single base substitution C T downstream_gene_variant SKCM-US 5 118487677 118487677 single base substitution C T missense_variant H1550Y 4648C>T SKCM-US 5 118487697 118487697 single base substitution C T downstream_gene_variant SKCM-US 5 118487697 118487697 single base substitution C T synonymous_variant S1556S 4668C>T SKCM-US 5 118500911 118500911 single base substitution C T missense_variant P1636S 4906C>T SKCM-US 5 118500911 118500911 single base substitution C T upstream_gene_variant SKCM-US 5 118500928 118500928 single base substitution T A synonymous_variant I1641I 4923T>A SKCM-US 5 118500928 118500928 single base substitution T A upstream_gene_variant SKCM-US 5 118503322 118503322 single base substitution A G missense_variant I1721V 5161A>G SKCM-US 5 118503322 118503322 single base substitution A G upstream_gene_variant SKCM-US 5 118506066 118506066 single base substitution C T exon_variant SKCM-US 5 118506066 118506066 single base substitution C T synonymous_variant T1860T 5580C>T SKCM-US 5 118506066 118506066 single base substitution C T upstream_gene_variant SKCM-US 5 118506200 118506202 deletion of <=200bp CTC - exon_variant SKCM-US 5 118506200 118506202 deletion of <=200bp CTC - inframe_deletion SP1905S SKCM-US 5 118506200 118506202 deletion of <=200bp CTC - upstream_gene_variant SKCM-US 5 118513857 118513857 single base substitution A G synonymous_variant L2351L 7053A>G SKCM-US 5 118525493 118525493 single base substitution C A missense_variant S2409Y 7226C>A SKCM-US 5 118533521 118533521 single base substitution C T exon_variant SKCM-US 5 118533521 118533521 single base substitution C T stop_gained R2539* 7615C>T SKCM-US 5 118560418 118560418 single base substitution C T exon_variant SKCM-US 5 118560418 118560418 single base substitution C T synonymous_variant A2743A 8229C>T SKCM-US 5 118560418 118560418 single base substitution C T synonymous_variant A2764A 8292C>T SKCM-US 5 118576136 118576136 single base substitution C T downstream_gene_variant SKCM-US 5 118576136 118576136 single base substitution C T exon_variant SKCM-US 5 118576136 118576136 single base substitution C T missense_variant L2871F 8611C>T SKCM-US 5 118576136 118576136 single base substitution C T missense_variant L2892F 8674C>T SKCM-US 5 118582703 118582703 single base substitution C T exon_variant SKCM-US 5 118582703 118582703 single base substitution C T missense_variant S2958F 8873C>T SKCM-US 5 118582703 118582703 single base substitution C T missense_variant S2979F 8936C>T STAD-US 5 118433791 118433791 single base substitution C T exon_variant STAD-US 5 118433791 118433791 single base substitution C T stop_gained Q69* 205C>T STAD-US 5 118433791 118433791 single base substitution C T upstream_gene_variant STAD-US 5 118433795 118433795 single base substitution G A exon_variant STAD-US 5 118433795 118433795 single base substitution G A missense_variant G70D 209G>A STAD-US 5 118433795 118433795 single base substitution G A upstream_gene_variant STAD-US 5 118445967 118445967 single base substitution T C exon_variant STAD-US 5 118445967 118445967 single base substitution T C synonymous_variant I162I 486T>C STAD-US 5 118465026 118465026 deletion of <=200bp T - exon_variant STAD-US 5 118465026 118465026 deletion of <=200bp T - frameshift_variant V408 STAD-US 5 118465026 118465026 deletion of <=200bp T - upstream_gene_variant STAD-US 5 118469231 118469231 single base substitution G A downstream_gene_variant STAD-US 5 118469231 118469231 single base substitution G A missense_variant D538N 1612G>A STAD-US 5 118469231 118469231 single base substitution G A upstream_gene_variant STAD-US 5 118469635 118469635 deletion of <=200bp T - downstream_gene_variant STAD-US 5 118469635 118469635 deletion of <=200bp T - frameshift_variant P672 STAD-US 5 118469635 118469635 deletion of <=200bp T - upstream_gene_variant STAD-US 5 118470009 118470009 single base substitution A G downstream_gene_variant STAD-US 5 118470009 118470009 single base substitution A G exon_variant STAD-US 5 118470009 118470009 single base substitution A G synonymous_variant G767G 2301A>G STAD-US 5 118480239 118480239 deletion of <=200bp A - exon_variant STAD-US 5 118480239 118480239 deletion of <=200bp A - frameshift_variant R825 STAD-US 5 118484481 118484481 single base substitution T G downstream_gene_variant STAD-US 5 118484481 118484481 single base substitution T G missense_variant L987V 2959T>G STAD-US 5 118484496 118484496 single base substitution T G downstream_gene_variant STAD-US 5 118484496 118484496 single base substitution T G missense_variant C992G 2974T>G STAD-US 5 118484637 118484637 single base substitution A T downstream_gene_variant STAD-US 5 118484637 118484637 single base substitution A T missense_variant S1039C 3115A>T STAD-US 5 118484729 118484729 single base substitution A G downstream_gene_variant STAD-US 5 118484729 118484729 single base substitution A G synonymous_variant R1069R 3207A>G STAD-US 5 118485264 118485264 single base substitution G T downstream_gene_variant STAD-US 5 118485264 118485264 single base substitution G T stop_gained E1248* 3742G>T STAD-US 5 118485620 118485620 single base substitution T A downstream_gene_variant STAD-US 5 118485620 118485620 single base substitution T A missense_variant N1366K 4098T>A STAD-US 5 118485628 118485628 single base substitution G A downstream_gene_variant STAD-US 5 118485628 118485628 single base substitution G A missense_variant R1369H 4106G>A STAD-US 5 118485859 118485859 deletion of <=200bp T - downstream_gene_variant STAD-US 5 118485859 118485859 deletion of <=200bp T - frameshift_variant L1446 STAD-US 5 118485923 118485923 single base substitution G A downstream_gene_variant STAD-US 5 118485923 118485923 single base substitution G A synonymous_variant K1467K 4401G>A STAD-US 5 118485998 118485998 single base substitution C T downstream_gene_variant STAD-US 5 118485998 118485998 single base substitution C T synonymous_variant H1492H 4476C>T STAD-US 5 118486082 118486082 single base substitution C T downstream_gene_variant STAD-US 5 118486082 118486082 single base substitution C T synonymous_variant S1520S 4560C>T STAD-US 5 118500266 118500266 single base substitution G A missense_variant M1589I 4767G>A STAD-US 5 118500266 118500266 single base substitution G A upstream_gene_variant STAD-US 5 118500337 118500337 single base substitution G A missense_variant R1613Q 4838G>A STAD-US 5 118500337 118500337 single base substitution G A upstream_gene_variant STAD-US 5 118502338 118502338 insertion of <=200bp - T frameshift_variant Q1666H? STAD-US 5 118502338 118502338 insertion of <=200bp - T upstream_gene_variant STAD-US 5 118502339 118502339 insertion of <=200bp - T frameshift_variant F1667F? STAD-US 5 118502339 118502339 insertion of <=200bp - T upstream_gene_variant STAD-US 5 118503325 118503325 single base substitution C A exon_variant STAD-US 5 118503325 118503325 single base substitution C A missense_variant Q1722K 5164C>A STAD-US 5 118503325 118503325 single base substitution C A upstream_gene_variant STAD-US 5 118507479 118507479 single base substitution T C downstream_gene_variant STAD-US 5 118507479 118507479 single base substitution T C exon_variant STAD-US 5 118507479 118507479 single base substitution T C missense_variant S2166P 6496T>C STAD-US 5 118513830 118513830 single base substitution G A synonymous_variant E2342E 7026G>A STAD-US 5 118533559 118533559 single base substitution T A exon_variant STAD-US 5 118533559 118533559 single base substitution T A stop_gained Y2551* 7653T>A STAD-US 5 118533640 118533640 single base substitution C T exon_variant STAD-US 5 118533640 118533640 single base substitution C T synonymous_variant N2578N 7734C>T STAD-US 5 118556667 118556667 single base substitution A G exon_variant STAD-US 5 118556667 118556667 single base substitution A G missense_variant D2702G 8105A>G STAD-US 5 118556667 118556667 single base substitution A G missense_variant D2723G 8168A>G STAD-US 5 118560435 118560435 single base substitution G T exon_variant STAD-US 5 118560435 118560435 single base substitution G T missense_variant R2749I 8246G>T STAD-US 5 118560435 118560435 single base substitution G T missense_variant R2770I 8309G>T STAD-US 5 118580164 118580164 single base substitution C T exon_variant STAD-US 5 118580164 118580164 single base substitution C T stop_gained R2918* 8752C>T STAD-US 5 118580164 118580164 single base substitution C T stop_gained R2939* 8815C>T THCA-SA 5 118484804 118484804 single base substitution G A downstream_gene_variant THCA-SA 5 118484804 118484804 single base substitution G A synonymous_variant E1094E 3282G>A THCA-SA 5 118500264 118500264 single base substitution A G missense_variant M1589V 4765A>G THCA-SA 5 118500264 118500264 single base substitution A G upstream_gene_variant THCA-SA 5 118533499 118533499 single base substitution A G exon_variant THCA-SA 5 118533499 118533499 single base substitution A G synonymous_variant Q2531Q 7593A>G THCA-SA 5 118533499 118533499 single base substitution A G upstream_gene_variant THCA-SA 5 118552667 118552667 single base substitution G A exon_variant THCA-SA 5 118552667 118552667 single base substitution G A synonymous_variant A2645A 7935G>A THCA-SA 5 118552667 118552667 single base substitution G A synonymous_variant A2666A 7998G>A THCA-US 5 118506611 118506611 single base substitution G T downstream_gene_variant THCA-US 5 118506611 118506611 single base substitution G T exon_variant THCA-US 5 118506611 118506611 single base substitution G T missense_variant R2042L 6125G>T THCA-US 5 118506950 118506950 single base substitution T G downstream_gene_variant THCA-US 5 118506950 118506950 single base substitution T G exon_variant THCA-US 5 118506950 118506950 single base substitution T G missense_variant I2155S 6464T>G THCA-US 5 118556676 118556676 single base substitution C A exon_variant THCA-US 5 118556676 118556676 single base substitution C A missense_variant T2705K 8114C>A THCA-US 5 118556676 118556676 single base substitution C A missense_variant T2726K 8177C>A UCEC-US 5 118437692 118437692 single base substitution G T exon_variant UCEC-US 5 118437692 118437692 single base substitution G T missense_variant K92N 276G>T UCEC-US 5 118437692 118437692 single base substitution G T upstream_gene_variant UCEC-US 5 118440935 118440935 single base substitution A G downstream_gene_variant UCEC-US 5 118440935 118440935 single base substitution A G exon_variant UCEC-US 5 118440935 118440935 single base substitution A G missense_variant I116V 346A>G UCEC-US 5 118450213 118450213 single base substitution G T exon_variant UCEC-US 5 118450213 118450213 single base substitution G T stop_gained E181* 541G>T UCEC-US 5 118451946 118451946 single base substitution G T exon_variant UCEC-US 5 118451946 118451946 single base substitution G T stop_gained E220* 658G>T UCEC-US 5 118451959 118451959 single base substitution C A exon_variant UCEC-US 5 118451959 118451959 single base substitution C A missense_variant S224Y 671C>A UCEC-US 5 118454680 118454680 single base substitution G A intron_variant UCEC-US 5 118454680 118454680 single base substitution G A missense_variant R305Q 914G>A UCEC-US 5 118465057 118465057 single base substitution A G downstream_gene_variant UCEC-US 5 118465057 118465057 single base substitution A G exon_variant UCEC-US 5 118465057 118465057 single base substitution A G synonymous_variant E418E 1254A>G UCEC-US 5 118465057 118465057 single base substitution A G upstream_gene_variant UCEC-US 5 118465068 118465068 single base substitution C T downstream_gene_variant UCEC-US 5 118465068 118465068 single base substitution C T exon_variant UCEC-US 5 118465068 118465068 single base substitution C T missense_variant S422F 1265C>T UCEC-US 5 118465068 118465068 single base substitution C T upstream_gene_variant UCEC-US 5 118465081 118465081 single base substitution A G downstream_gene_variant UCEC-US 5 118465081 118465081 single base substitution A G exon_variant UCEC-US 5 118465081 118465081 single base substitution A G synonymous_variant V426V 1278A>G UCEC-US 5 118465081 118465081 single base substitution A G upstream_gene_variant UCEC-US 5 118469995 118469995 deletion of <=200bp G - downstream_gene_variant UCEC-US 5 118469995 118469995 deletion of <=200bp G - exon_variant UCEC-US 5 118469995 118469995 deletion of <=200bp G - frameshift_variant V763 UCEC-US 5 118470057 118470057 single base substitution A G downstream_gene_variant UCEC-US 5 118470057 118470057 single base substitution A G exon_variant UCEC-US 5 118470057 118470057 single base substitution A G synonymous_variant L783L 2349A>G UCEC-US 5 118482611 118482611 single base substitution C G exon_variant UCEC-US 5 118482611 118482611 single base substitution C G missense_variant H883Q 2649C>G UCEC-US 5 118483022 118483022 single base substitution T G exon_variant UCEC-US 5 118483022 118483022 single base substitution T G missense_variant L923R 2768T>G UCEC-US 5 118484577 118484577 single base substitution C A downstream_gene_variant UCEC-US 5 118484577 118484577 single base substitution C A missense_variant L1019I 3055C>A UCEC-US 5 118484613 118484613 single base substitution G T downstream_gene_variant UCEC-US 5 118484613 118484613 single base substitution G T stop_gained E1031* 3091G>T UCEC-US 5 118484659 118484659 single base substitution C A downstream_gene_variant UCEC-US 5 118484659 118484659 single base substitution C A missense_variant P1046H 3137C>A UCEC-US 5 118484784 118484784 single base substitution G T downstream_gene_variant UCEC-US 5 118484784 118484784 single base substitution G T missense_variant G1088C 3262G>T UCEC-US 5 118484933 118484933 single base substitution G T downstream_gene_variant UCEC-US 5 118484933 118484933 single base substitution G T missense_variant K1137N 3411G>T UCEC-US 5 118485124 118485124 single base substitution G A downstream_gene_variant UCEC-US 5 118485124 118485124 single base substitution G A missense_variant R1201Q 3602G>A UCEC-US 5 118485283 118485283 single base substitution C T downstream_gene_variant UCEC-US 5 118485283 118485283 single base substitution C T missense_variant S1254L 3761C>T UCEC-US 5 118485422 118485422 single base substitution C T downstream_gene_variant UCEC-US 5 118485422 118485422 single base substitution C T synonymous_variant F1300F 3900C>T UCEC-US 5 118485469 118485469 single base substitution A G downstream_gene_variant UCEC-US 5 118485469 118485469 single base substitution A G missense_variant H1316R 3947A>G UCEC-US 5 118485540 118485540 single base substitution C T downstream_gene_variant UCEC-US 5 118485540 118485540 single base substitution C T missense_variant R1340W 4018C>T UCEC-US 5 118485628 118485628 single base substitution G A downstream_gene_variant UCEC-US 5 118485628 118485628 single base substitution G A missense_variant R1369H 4106G>A UCEC-US 5 118485645 118485645 single base substitution A G downstream_gene_variant UCEC-US 5 118485645 118485645 single base substitution A G missense_variant T1375A 4123A>G UCEC-US 5 118485683 118485683 single base substitution G A downstream_gene_variant UCEC-US 5 118485683 118485683 single base substitution G A synonymous_variant Q1387Q 4161G>A UCEC-US 5 118487671 118487671 single base substitution C T downstream_gene_variant UCEC-US 5 118487671 118487671 single base substitution C T stop_gained R1548* 4642C>T UCEC-US 5 118487711 118487711 single base substitution G A downstream_gene_variant UCEC-US 5 118487711 118487711 single base substitution G A missense_variant R1561Q 4682G>A UCEC-US 5 118500228 118500228 single base substitution G A missense_variant A1577T 4729G>A UCEC-US 5 118500228 118500228 single base substitution G A upstream_gene_variant UCEC-US 5 118500367 118500367 single base substitution A C missense_variant E1623A 4868A>C UCEC-US 5 118500367 118500367 single base substitution A C upstream_gene_variant UCEC-US 5 118505963 118505963 single base substitution G A exon_variant UCEC-US 5 118505963 118505963 single base substitution G A missense_variant R1826H 5477G>A UCEC-US 5 118505963 118505963 single base substitution G A upstream_gene_variant UCEC-US 5 118506466 118506466 single base substitution G A downstream_gene_variant UCEC-US 5 118506466 118506466 single base substitution G A exon_variant UCEC-US 5 118506466 118506466 single base substitution G A missense_variant D1994N 5980G>A UCEC-US 5 118506506 118506506 single base substitution C A downstream_gene_variant UCEC-US 5 118506506 118506506 single base substitution C A exon_variant UCEC-US 5 118506506 118506506 single base substitution C A missense_variant S2007Y 6020C>A UCEC-US 5 118506828 118506828 single base substitution A C downstream_gene_variant UCEC-US 5 118506828 118506828 single base substitution A C exon_variant UCEC-US 5 118506828 118506828 single base substitution A C missense_variant E2114D 6342A>C UCEC-US 5 118506884 118506884 single base substitution T A downstream_gene_variant UCEC-US 5 118506884 118506884 single base substitution T A exon_variant UCEC-US 5 118506884 118506884 single base substitution T A missense_variant F2133Y 6398T>A UCEC-US 5 118513838 118513838 single base substitution G A missense_variant R2345Q 7034G>A UCEC-US 5 118529625 118529625 single base substitution G A missense_variant D2473N 7417G>A UCEC-US 5 118529625 118529625 single base substitution G A upstream_gene_variant UCEC-US 5 118532133 118532133 single base substitution G A missense_variant A2509T 7525G>A UCEC-US 5 118532133 118532133 single base substitution G A upstream_gene_variant UCEC-US 5 118533515 118533515 single base substitution C A exon_variant UCEC-US 5 118533515 118533515 single base substitution C A missense_variant L2537I 7609C>A UCEC-US 5 118533562 118533562 single base substitution C T exon_variant UCEC-US 5 118533562 118533562 single base substitution C T synonymous_variant I2552I 7656C>T UCEC-US 5 118533578 118533578 single base substitution G A exon_variant UCEC-US 5 118533578 118533578 single base substitution G A missense_variant E2558K 7672G>A UCEC-US 5 118533612 118533612 single base substitution G A exon_variant UCEC-US 5 118533612 118533612 single base substitution G A missense_variant R2569H 7706G>A UCEC-US 5 118539073 118539073 single base substitution A G exon_variant UCEC-US 5 118539073 118539073 single base substitution A G missense_variant E2602G 7805A>G UCEC-US 5 118539073 118539073 single base substitution A G upstream_gene_variant UCEC-US 5 118552679 118552679 single base substitution T C exon_variant UCEC-US 5 118552679 118552679 single base substitution T C synonymous_variant N2649N 7947T>C UCEC-US 5 118552679 118552679 single base substitution T C synonymous_variant N2670N 8010T>C UCEC-US 5 118560444 118560444 single base substitution C A exon_variant UCEC-US 5 118560444 118560444 single base substitution C A missense_variant S2752Y 8255C>A UCEC-US 5 118560444 118560444 single base substitution C A missense_variant S2773Y 8318C>A UCEC-US 5 118574725 118574725 single base substitution C A downstream_gene_variant UCEC-US 5 118574725 118574725 single base substitution C A exon_variant UCEC-US 5 118574725 118574725 single base substitution C A intron_variant UCEC-US 5 118574725 118574725 single base substitution C A missense_variant F2846L 8538C>A UCEC-US 5 118574725 118574725 single base substitution C A missense_variant F2867L 8601C>A UCEC-US 5 118574725 118574725 single base substitution C T downstream_gene_variant UCEC-US 5 118574725 118574725 single base substitution C T exon_variant UCEC-US 5 118574725 118574725 single base substitution C T intron_variant UCEC-US 5 118574725 118574725 single base substitution C T synonymous_variant F2846F 8538C>T UCEC-US 5 118574725 118574725 single base substitution C T synonymous_variant F2867F 8601C>T UCEC-US 5 118576134 118576134 single base substitution C G downstream_gene_variant UCEC-US 5 118576134 118576134 single base substitution C G exon_variant UCEC-US 5 118576134 118576134 single base substitution C G missense_variant T2870S 8609C>G UCEC-US 5 118576134 118576134 single base substitution C G missense_variant T2891S 8672C>G UCEC-US 5 118582692 118582692 single base substitution T C splice_region_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand Pat_45_B COSM5867101 c.8203G>A p.G2735R Substitution - Missense 5:119221070-119221070 + 3N41-VS-3T41 COSM4981848 c.7091C>G p.A2364G Substitution - Missense 5:119178200-119178200 + SNUH_G10_S1 COSM4003267 c.7593A>G p.Q2531Q Substitution - coding silent 5:119197804-119197804 + BK0047D COSM4187817 c.5886C>A p.D1962E Substitution - Missense 5:119170677-119170677 + ESCC-211T COSM3941009 c.5A>T p.N2I Substitution - Missense 5:119071574-119071574 + LC_C27 COSM1186815 c.4374G>T p.M1458I Substitution - Missense 5:119150201-119150201 + CSCC-35-T COSM4480560 c.242C>T p.S81F Substitution - Missense 5:119101963-119101963 + 001-0002-11TD COSM1317143 c.565-7T>C p.? Unknown 5:119116151-119116151 + TCGA-CD-8527-01 COSM4127341 c.8815C>T p.R2939* Substitution - Nonsense 5:119244469-119244469 + XHDG04 COSM4768132 c.7827C>G p.I2609M Substitution - Missense 5:119203400-119203400 + B88-Tumor COSM1753922 c.3260G>C p.G1087A Substitution - Missense 5:119149087-119149087 + S02287 COSM5685725 c.4971-3T>C p.? Unknown 5:119166613-119166613 + TCGA-A8-A0A6-01 COSM3826603 c.3639A>C p.P1213P Substitution - coding silent 5:119149466-119149466 + 0091_CRUK_PC_0091_T1_DNA COSM4420155 c.8884G>C p.E2962Q Substitution - Missense 5:119244538-119244538 + TCGA-EI-6885-01 COSM3134406 c.238A>G p.I80V Substitution - Missense 5:119101959-119101959 + CSCC-30-T COSM4547041 c.4138G>T p.G1380* Substitution - Nonsense 5:119149965-119149965 + TCGA-A8-A0A6-01 COSM5834917 c.3639A>C p.P1213P Substitution - coding silent 5:119149466-119149466 + PT50 COSM5943587 c.4970+7delA p.? Unknown 5:119165287-119165287 + PD7249a COSM5781948 c.2561C>G p.S854C Substitution - Missense 5:119144630-119144630 + B89-12 COSM1753926 c.4271A>T p.E1424V Substitution - Missense 5:119150098-119150098 + CSCC-38-T COSM4473949 c.1884C>T p.S628S Substitution - coding silent 5:119133808-119133808 + T3064 COSM4678176 c.1223delT p.L410fs*17 Deletion - Frameshift 5:119129331-119129331 + 435 COSM4433914 c.4579C>T p.R1527* Substitution - Nonsense 5:119150406-119150406 + TCGA-E2-A15L-01 COSM448476 c.2506G>A p.D836N Substitution - Missense 5:119144575-119144575 + DLBCL790 COSM1580787 c.4789G>A p.D1597N Substitution - Missense 5:119164593-119164593 + TCGA-IM-A3U2-01 COSM3373625 c.8114C>A p.T2705K Substitution - Missense 5:119220981-119220981 + CSCC-37-T COSM4450371 c.5670delT p.Y1892fs*19 Deletion - Frameshift 5:119170461-119170461 + TCGA-DK-A1AC-01 COSM1310460 c.7663C>T p.H2555Y Substitution - Missense 5:119197874-119197874 + S02299 COSM5690726 c.9047A>T p.N3016I Substitution - Missense 5:119247182-119247182 + TCGA-AP-A056-01 COSM1059966 c.4642C>T p.R1548* Substitution - Nonsense 5:119151976-119151976 + TCGA-FW-A3TU-06 COSM3607785 c.3550C>T p.P1184S Substitution - Missense 5:119149377-119149377 + T2269 COSM4678187 c.4989G>A p.R1663R Substitution - coding silent 5:119166634-119166634 + BJAB COSM1580782 c.2716G>A p.E906K Substitution - Missense 5:119147275-119147275 + PT25 COSM3696877 c.3748G>A p.V1250I Substitution - Missense 5:119149575-119149575 + TCGA-BR-8487-01 COSM4127314 c.4098T>A p.N1366K Substitution - Missense 5:119149925-119149925 + TCGA-BR-8680-01 COSM4127327 c.5164C>A p.Q1722K Substitution - Missense 5:119167630-119167630 + CSCC-35-T COSM4555141 c.6434G>A p.G2145E Substitution - Missense 5:119171225-119171225 + TCGA-CJ-5676-01 COSM481782 c.5059T>G p.S1687A Substitution - Missense 5:119166704-119166704 + ATL051 COSM1059963 c.4106G>A p.R1369H Substitution - Missense 5:119149933-119149933 + SNUH_G76_S1 COSM4003269 c.8949G>C p.V2983V Substitution - coding silent 5:119247084-119247084 + SNUH_G16_S1 COSM4003265 c.6319A>T p.T2107S Substitution - Missense 5:119171110-119171110 + Pat_41_B COSM5867093 c.3641C>T p.P1214L Substitution - Missense 5:119149468-119149468 + B88-Tumor COSM1753919 c.2690-1G>C p.? Unknown 5:119147248-119147248 + TCGA-EE-A2MD-06 COSM3607781 c.2923T>A p.S975T Substitution - Missense 5:119148750-119148750 + TCGA-EB-A431-01 COSM3607792 c.7226C>A p.S2409Y Substitution - Missense 5:119189798-119189798 + TCGA-B4-5832-01 COSM1495858 c.8263A>T p.T2755S Substitution - Missense 5:119224757-119224757 + RK080_C01 COSM1633893 c.8404-9T>G p.? Unknown 5:119237313-119237313 + TCGA-AP-A056-01 COSM1059960 c.3900C>T p.F1300F Substitution - coding silent 5:119149727-119149727 + CLL068 COSM1291997 c.2968A>G p.T990A Substitution - Missense 5:119148795-119148795 + SNU-C2B COSM3134506 c.6352_6353insA p.R2120fs*16 Insertion - Frameshift 5:119171143-119171144 + TCGA-BR-8368-01 COSM4127328 c.6496T>C p.S2166P Substitution - Missense 5:119171784-119171784 + TCGA-BR-6563-01 COSM4127332 c.7653T>A p.Y2551* Substitution - Nonsense 5:119197864-119197864 + Pat_63_B COSM5867098 c.7127C>T p.T2376I Substitution - Missense 5:119178236-119178236 + HCC159 COSM3661331 c.1540T>C p.Y514H Substitution - Missense 5:119133356-119133356 + Pat_44_B COSM5867100 c.7656_7657delCG p.A2553fs*68 Deletion - Frameshift 5:119197867-119197868 + PT35 COSM4344014 c.4642C>T p.R1548* Substitution - Nonsense 5:119151976-119151976 + TCGA-FU-A3HZ-01 COSM4839640 c.127G>A p.D43N Substitution - Missense 5:119098018-119098018 + P04-1790 COSM242516 c.111T>G p.I37M Substitution - Missense 5:119098002-119098002 + TCGA-D1-A17H-01 COSM1059950 c.2455A>G p.I819V Substitution - Missense 5:119143919-119143919 + BK0027 COSM4186608 c.744-1G>C p.? Unknown 5:119118814-119118814 + TCGA-CC-A7IK-01 COSM4924644 c.6913A>T p.N2305Y Substitution - Missense 5:119178022-119178022 + Pat_41_B COSM5867091 c.3445G>A p.D1149N Substitution - Missense 5:119149272-119149272 + TCGA-AX-A05Z-01 COSM1059959 c.3602G>A p.R1201Q Substitution - Missense 5:119149429-119149429 + TCGA-EE-A3AA-06 COSM3607793 c.7615C>T p.R2539* Substitution - Nonsense 5:119197826-119197826 + TCGA-AM-5820-01 COSM5830002 c.3748G>A p.V1250I Substitution - Missense 5:119149575-119149575 + C086 COSM5529858 c.6425C>T p.S2142F Substitution - Missense 5:119171216-119171216 + 53M COSM5594496 c.7630C>T p.H2544Y Substitution - Missense 5:119197841-119197841 + 0091_CRUK_PC_0091_T1_DNA COSM4420154 c.8821G>C p.E2941Q Substitution - Missense 5:119244538-119244538 + TCGA-CA-6717-01 COSM1059962 c.4018C>T p.R1340W Substitution - Missense 5:119149845-119149845 + PT32 COSM5907347 c.5816C>T p.S1939F Substitution - Missense 5:119170607-119170607 + ESO-187 COSM1250291 c.931G>C p.E311Q Substitution - Missense 5:119119002-119119002 + PT32 COSM5907346 c.5816C>T p.S1939F Substitution - Missense 5:119170607-119170607 + TCGA-CD-8527-01 COSM4127340 c.8752C>T p.R2918* Substitution - Nonsense 5:119244469-119244469 + pfg019T COSM1642565 c.2323G>T p.A775S Substitution - Missense 5:119134336-119134336 + LC_C6 COSM1186816 c.4433C>T p.P1478L Substitution - Missense 5:119150260-119150260 + ACHN COSM1671821 c.8462G>T p.C2821F Substitution - Missense 5:119237380-119237380 + CHC1595T COSM4951175 c.5192A>G p.Y1731C Substitution - Missense 5:119167658-119167658 + TCGA-BR-8361-01 COSM1059963 c.4106G>A p.R1369H Substitution - Missense 5:119149933-119149933 + SNUH_G76_S1 COSM4003267 c.7593A>G p.Q2531Q Substitution - coding silent 5:119197804-119197804 + SM-4B296 COSM5035574 c.4827G>C p.G1609G Substitution - coding silent 5:119164631-119164631 + TCGA-AM-5820-01 COSM3696877 c.3748G>A p.V1250I Substitution - Missense 5:119149575-119149575 + TCGA-A2-A0YE-01 COSM1486228 c.8619A>C p.A2873A Substitution - coding silent 5:119240449-119240449 + TCGA-B5-A11E-01 COSM1059975 c.7034G>A p.R2345Q Substitution - Missense 5:119178143-119178143 + GC_357T-GC_357N COSM4774090 c.4205C>T p.S1402F Substitution - Missense 5:119150032-119150032 + DLBCL829 COSM1580792 c.6944T>C p.L2315P Substitution - Missense 5:119178053-119178053 + T2269 COSM4678189 c.5065C>T p.L1689L Substitution - coding silent 5:119166710-119166710 + pfg043T COSM4760558 c.1658A>C p.K553T Substitution - Missense 5:119133582-119133582 + TCGA-BR-6452-01 COSM4127330 c.7026G>A p.E2342E Substitution - coding silent 5:119178135-119178135 + MM1S COSM1235505 c.3959C>T p.P1320L Substitution - Missense 5:119149786-119149786 + ESCC_21 COSM5626296 c.2527G>A p.E843K Substitution - Missense 5:119144596-119144596 + TCGA-D1-A16X-01 COSM1059939 c.658G>T p.E220* Substitution - Nonsense 5:119116251-119116251 + HCC205T COSM131445 c.6279A>T p.E2093D Substitution - Missense 5:119171070-119171070 + PT47 COSM5930244 c.8146A>T p.S2716C Substitution - Missense 5:119221013-119221013 + LN18 COSM4343976 c.2544C>G p.G848G Substitution - coding silent 5:119144613-119144613 + CX-1 COSM4621689 c.5428G>A p.V1810I Substitution - Missense 5:119170219-119170219 + sysucc-723T COSM5763987 c.1781C>T p.T594M Substitution - Missense 5:119133705-119133705 + 3N56-VS-3T56 COSM3134444 c.2403C>T p.I801I Substitution - coding silent 5:119143867-119143867 + TCGA-D5-6927-01 COSM5165163 c.159T>G p.A53A Substitution - coding silent 5:119098050-119098050 + Pat_41_B COSM5867103 c.9002G>A p.G3001E Substitution - Missense 5:119247137-119247137 + LC_S12 COSM1186817 c.6352G>A p.E2118K Substitution - Missense 5:119171143-119171143 + 433 COSM4433692 c.4605T>C p.T1535T Substitution - coding silent 5:119151939-119151939 + TCGA-BH-A0HP-01 COSM448474 c.1321G>A p.D441N Substitution - Missense 5:119133137-119133137 + TCGA-D5-6540-01 COSM5164341 c.7478C>T p.A2493V Substitution - Missense 5:119196391-119196391 + KM12 COSM1671819 c.4550C>T p.A1517V Substitution - Missense 5:119150377-119150377 + TCGA-BK-A0C9-01 COSM1059978 c.7430A>G p.Q2477R Substitution - Missense 5:119193943-119193943 + T3479 COSM4678185 c.4856G>A p.R1619H Substitution - Missense 5:119164660-119164660 + TCGA-GN-A266-06 COSM3607784 c.3509G>A p.G1170D Substitution - Missense 5:119149336-119149336 + Pat_41_B COSM5867104 c.9065G>A p.G3022E Substitution - Missense 5:119247137-119247137 + S02120 COSM5673736 c.7094A>C p.H2365P Substitution - Missense 5:119178203-119178203 + AOCS-128-1-0 COSM4141388 c.6566A>G p.N2189S Substitution - Missense 5:119171854-119171854 + TCGA-AD-6895-01 COSM1432655 c.8550C>T p.S2850S Substitution - coding silent 5:119239042-119239042 + LOVO COSM3134529 c.7618C>T p.R2540* Substitution - Nonsense 5:119197829-119197829 + CSCC-27-T COSM4469510 c.1602C>T p.F534F Substitution - coding silent 5:119133526-119133526 + TCGA-AC-A23H-01 COSM5204897 c.6446C>A p.S2149Y Substitution - Missense 5:119171237-119171237 + TCGA-AX-A05Z-01 COSM1059948 c.2349A>G p.L783L Substitution - coding silent 5:119134362-119134362 + T2269 COSM4678188 c.4989G>A p.R1663R Substitution - coding silent 5:119166634-119166634 + CSCC-30-T COSM4498968 c.5317C>T p.R1773W Substitution - Missense 5:119167783-119167783 + CCK81 COSM4344027 c.5588G>A p.S1863N Substitution - Missense 5:119170379-119170379 + TCGA-AC-A3OD-01 COSM3826608 c.7909G>T p.E2637* Substitution - Nonsense 5:119206879-119206879 + ESCC_BICR_007T COSM5434165 c.8285G>A p.G2762E Substitution - Missense 5:119233349-119233349 + TCGA-AP-A0LP-01 COSM1059977 c.7424A>G p.H2475R Substitution - Missense 5:119193937-119193937 + TCGA-BR-4357-01 COSM4127310 c.3207A>G p.R1069R Substitution - coding silent 5:119149034-119149034 + ESCC-F3 COSM5047469 c.859A>G p.T287A Substitution - Missense 5:119118930-119118930 + RK056_C01 COSM1633892 c.2273C>T p.P758L Substitution - Missense 5:119134286-119134286 + LC_S25 COSM1186818 c.7192A>G p.M2398V Substitution - Missense 5:119189764-119189764 + ESO-0079 COSM1250285 c.5579C>T p.T1860I Substitution - Missense 5:119170370-119170370 + TCGA-ER-A19T-01 COSM4897623 c.1111C>G p.L371V Substitution - Missense 5:119129219-119129219 + B88-Tumor COSM4005830 c.2919G>C p.L973L Substitution - coding silent 5:119148746-119148746 + TCGA-AC-A3QP-01 COSM3826607 c.7057G>T p.E2353* Substitution - Nonsense 5:119178166-119178166 + Pat_63_B COSM5867097 c.7127C>T p.T2376I Substitution - Missense 5:119178236-119178236 + 51 COSM5734585 c.7175G>A p.R2392H Substitution - Missense 5:119189747-119189747 + LN18 COSM3134446 c.2544C>G p.G848G Substitution - coding silent 5:119144613-119144613 + sysucc-886T COSM5766938 c.2587T>C p.F863L Substitution - Missense 5:119146854-119146854 + CLL050 COSM1291998 c.4461G>A p.Q1487Q Substitution - coding silent 5:119150288-119150288 + SW480 COSM4343945 c.833T>C p.L278P Substitution - Missense 5:119118904-119118904 + TCGA-A8-A0A6-01 COSM5834918 c.4596T>G p.G1532G Substitution - coding silent 5:119151930-119151930 + sysucc-834T COSM5486440 c.3288A>G p.T1096T Substitution - coding silent 5:119149115-119149115 + TCGA-60-2698-01 COSM735950 c.5206G>C p.D1736H Substitution - Missense 5:119167672-119167672 + PD14453a COSM5794837 c.4150A>G p.R1384G Substitution - Missense 5:119149977-119149977 + TCGA-FW-A3R5-06 COSM3918490 c.5580C>T p.T1860T Substitution - coding silent 5:119170371-119170371 + CSCC-16-T COSM4343999 c.3900C>T p.F1300F Substitution - coding silent 5:119149727-119149727 + ESO-1427 COSM1250289 c.8516A>G p.K2839R Substitution - Missense 5:119239008-119239008 + ESO-408 COSM1250292 c.3601C>T p.R1201* Substitution - Nonsense 5:119149428-119149428 + TCGA-33-4533-01 COSM734988 c.3602G>T p.R1201L Substitution - Missense 5:119149429-119149429 + HCC28 COSM1619347 c.396G>A p.L132L Substitution - coding silent 5:119110182-119110182 + TCGA-AZ-4315-01 COSM5830001 c.3601C>T p.R1201* Substitution - Nonsense 5:119149428-119149428 + 8069192 COSM4408266 c.6600C>A p.H2200Q Substitution - Missense 5:119171888-119171888 + sysucc-1242T COSM5766831 c.5918A>T p.D1973V Substitution - Missense 5:119170709-119170709 + 3N56-VS-3T56 COSM4343973 c.2403C>T p.I801I Substitution - coding silent 5:119143867-119143867 + TCGA-G2-A2EL-01 COSM1310457 c.1875C>T p.L625L Substitution - coding silent 5:119133799-119133799 + TCGA-HU-A4G8-01 COSM4127318 c.4476C>T p.H1492H Substitution - coding silent 5:119150303-119150303 + 587342 COSM1203886 c.8423A>G p.D2808G Substitution - Missense 5:119237341-119237341 + CHC051T COSM3669362 c.2224C>T p.L742L Substitution - coding silent 5:119134148-119134148 + T2269 COSM4678193 c.5995G>T p.D1999Y Substitution - Missense 5:119170786-119170786 + TCGA-AZ-4615-01 COSM5139780 c.9058delA p.N3021fs*3 Deletion - Frameshift 5:119247193-119247193 + DLBCL778 COSM1580785 c.3751A>G p.I1251V Substitution - Missense 5:119149578-119149578 + PT28 COSM4344053 c.7183C>T p.P2395S Substitution - Missense 5:119189755-119189755 + TCGA-BH-A18P-01 COSM448481 c.8959G>C p.E2987Q Substitution - Missense 5:119247094-119247094 + TCGA-AC-A23H-01 COSM3826606 c.6446C>A p.S2149Y Substitution - Missense 5:119171237-119171237 + TCGA-BR-8680-01 COSM4127311 c.3742G>T p.E1248* Substitution - Nonsense 5:119149569-119149569 + CHC303T COSM4950445 c.1088T>G p.I363S Substitution - Missense 5:119121125-119121125 + PT36 COSM5915378 c.1751C>T p.S584L Substitution - Missense 5:119133675-119133675 + TCGA-JW-A69B-01 COSM4829520 c.2816G>T p.S939I Substitution - Missense 5:119147375-119147375 + TCGA-BH-A1ES-06 COSM3826600 c.1286C>A p.S429Y Substitution - Missense 5:119129394-119129394 + pfg122T COSM4760555 c.588G>T p.W196C Substitution - Missense 5:119116181-119116181 + 824_T COSM3946775 c.2965G>A p.A989T Substitution - Missense 5:119148792-119148792 + TCGA-D9-A6EC-06 COSM4403802 c.4923T>A p.I1641I Substitution - coding silent 5:119165233-119165233 + 07-058 COSM3736364 c.1396A>C p.S466R Substitution - Missense 5:119133212-119133212 + TCGA-AN-A0XW-01 COSM5207895 c.2576C>G p.S859* Substitution - Nonsense 5:119146843-119146843 + RK280_C01 COSM4944342 c.5843T>A p.L1948H Substitution - Missense 5:119170634-119170634 + DLBCL829 COSM1580783 c.3118A>G p.I1040V Substitution - Missense 5:119148945-119148945 + PD7249a COSM5781947 c.2561C>G p.S854C Substitution - Missense 5:119144630-119144630 + TCGA-BS-A0UV-01 COSM1059988 c.8538C>A p.F2846L Substitution - Missense 5:119239030-119239030 + sysucc-723T COSM5763988 c.1781C>T p.T594M Substitution - Missense 5:119133705-119133705 + TCGA-BH-A1ES-06 COSM5219482 c.1286C>A p.S429Y Substitution - Missense 5:119129394-119129394 + TCGA-CG-5721-01 COSM4127316 c.4401G>A p.K1467K Substitution - coding silent 5:119150228-119150228 + ITNET_0100_T COSM4963597 c.3664G>T p.V1222F Substitution - Missense 5:119149491-119149491 + Pat_41_B COSM5867094 c.3641C>T p.P1214L Substitution - Missense 5:119149468-119149468 + CRC-02T COSM5455339 c.1909C>T p.R637C Substitution - Missense 5:119133833-119133833 + TCGA-FW-A3R5-06 COSM3918485 c.952C>T p.R318C Substitution - Missense 5:119120989-119120989 + Pat_66_A COSM5867090 c.2677C>T p.P893S Substitution - Missense 5:119146944-119146944 + HCC055T COSM5823855 c.3081A>T p.P1027P Substitution - coding silent 5:119148908-119148908 + TCGA-B5-A0JR-01 COSM1059971 c.5980G>A p.D1994N Substitution - Missense 5:119170771-119170771 + S02274 COSM5682537 c.1983A>G p.L661L Substitution - coding silent 5:119133907-119133907 + TCGA-EI-6885-01 COSM4343936 c.238A>G p.I80V Substitution - Missense 5:119101959-119101959 + PS-286-4D COSM4423758 c.6629A>G p.H2210R Substitution - Missense 5:119171917-119171917 + TCGA-FW-A3R5-06 COSM3918491 c.5580C>T p.T1860T Substitution - coding silent 5:119170371-119170371 + TCGA-CA-6717-01 COSM1432640 c.756T>C p.C252C Substitution - coding silent 5:119118827-119118827 + B88 COSM1753920 c.2919G>C p.L973L Substitution - coding silent 5:119148746-119148746 + RK225_C01 COSM4944778 c.2377-8A>T p.? Unknown 5:119143833-119143833 + B89-12-Tumor COSM4005836 c.4271A>T p.E1424V Substitution - Missense 5:119150098-119150098 + LUAD-S01331 COSM396570 c.2185A>T p.N729Y Substitution - Missense 5:119134109-119134109 + CSCC-27-T COSM4487284 c.3166C>T p.R1056C Substitution - Missense 5:119148993-119148993 + Pat_66_A COSM5017329 c.7256_7257insG p.V2420fs*2 Insertion - Frameshift 5:119189828-119189829 + YUDARE COSM1696072 c.5161A>G p.I1721V Substitution - Missense 5:119167627-119167627 + ML_04_T_01 COSM5038093 c.4496C>A p.P1499Q Substitution - Missense 5:119150323-119150323 + TCGA-D1-A17Q-01 COSM1059938 c.541G>T p.E181* Substitution - Nonsense 5:119114518-119114518 + ML_04_T_01 COSM5038094 c.4496C>A p.P1499Q Substitution - Missense 5:119150323-119150323 + T2940 COSM4678179 c.1878T>C p.S626S Substitution - coding silent 5:119133802-119133802 + CHEWS024 COSM4585345 c.7257G>A p.A2419A Substitution - coding silent 5:119189829-119189829 + pfg122T COSM4760556 c.588G>T p.W196C Substitution - Missense 5:119116181-119116181 + TCGA-BR-4257-01 COSM4127298 c.486T>C p.I162I Substitution - coding silent 5:119110272-119110272 + TCGA-60-2698-01 COSM734986 c.4262C>G p.S1421* Substitution - Nonsense 5:119150089-119150089 + BK0047D COSM4187816 c.5886C>A p.D1962E Substitution - Missense 5:119170677-119170677 + HX36T COSM1619349 c.5222A>G p.Y1741C Substitution - Missense 5:119167688-119167688 + YUKAT COSM5401984 c.5020G>A p.D1674N Substitution - Missense 5:119166665-119166665 + TCGA-AC-A5XS-01 COSM4391254 c.7333C>G p.Q2445E Substitution - Missense 5:119193846-119193846 + YUWIA COSM5401980 c.2512A>C p.I838L Substitution - Missense 5:119144581-119144581 + TCGA-D8-A1XQ-01 COSM4678176 c.1223delT p.L410fs*17 Deletion - Frameshift 5:119129331-119129331 + ATL052 COSM5709429 c.1664T>C p.V555A Substitution - Missense 5:119133588-119133588 + T1184 COSM4678186 c.4856G>A p.R1619H Substitution - Missense 5:119164660-119164660 + ccRCC-93 COSM1661480 c.1849G>A p.E617K Substitution - Missense 5:119133773-119133773 + B88 COSM1753919 c.2690-1G>C p.? Unknown 5:119147248-119147248 + SNUH_G16_S1 COSM4003261 c.6117A>C p.V2039V Substitution - coding silent 5:119170908-119170908 + YUFIT COSM5401977 c.1754C>T p.S585F Substitution - Missense 5:119133678-119133678 + C086 COSM1059962 c.4018C>T p.R1340W Substitution - Missense 5:119149845-119149845 + B88-Tumor COSM4005829 c.2690-1G>C p.? Unknown 5:119147248-119147248 + TCGA-BR-6452-01 COSM4127331 c.7026G>A p.E2342E Substitution - coding silent 5:119178135-119178135 + T3020 COSM4678182 c.4267T>C p.L1423L Substitution - coding silent 5:119150094-119150094 + TCGA-CC-5259-01 COSM4928017 c.1823T>A p.L608Q Substitution - Missense 5:119133747-119133747 + YUWIA COSM5401979 c.2512A>C p.I838L Substitution - Missense 5:119144581-119144581 + DLBCL777 COSM1580788 c.4936A>G p.M1646V Substitution - Missense 5:119165246-119165246 + T3152 COSM4678184 c.4328_4330delATG p.D1444delD Deletion - In frame 5:119150155-119150157 + DLBCL1057 COSM1580789 c.5491T>A p.S1831T Substitution - Missense 5:119170282-119170282 + TCGA-AA-3712-01 COSM1432639 c.390C>G p.S130R Substitution - Missense 5:119110176-119110176 + SNUH_G10_S1 COSM4003268 c.7593A>G p.Q2531Q Substitution - coding silent 5:119197804-119197804 + TCGA-BR-8368-01 COSM4127329 c.6496T>C p.S2166P Substitution - Missense 5:119171784-119171784 + ESCC-F76 COSM5048591 c.3884G>T p.G1295V Substitution - Missense 5:119149711-119149711 + TCGA-AG-3892-01 COSM256776 c.6206C>T p.A2069V Substitution - Missense 5:119170997-119170997 + TCGA-AC-A3QP-01 COSM5834919 c.7057G>T p.E2353* Substitution - Nonsense 5:119178166-119178166 + TCGA-CW-5580-01 COSM481784 c.8265T>C p.T2755T Substitution - coding silent 5:119224759-119224759 + T3301 COSM4678178 c.1837G>C p.V613L Substitution - Missense 5:119133761-119133761 + TCGA-F1-6177-01 COSM4127324 c.4838G>A p.R1613Q Substitution - Missense 5:119164642-119164642 + 2492722 COSM1541229 c.3653C>T p.S1218F Substitution - Missense 5:119149480-119149480 + HCC2998 COSM4344050 c.7059G>T p.E2353D Substitution - Missense 5:119178168-119178168 + TCGA-AD-6895-01 COSM5130620 c.8613C>T p.S2871S Substitution - coding silent 5:119239042-119239042 + ESO-1059 COSM1250286 c.1070T>A p.F357Y Substitution - Missense 5:119121107-119121107 + sysucc-311T COSM5119517 c.5060C>A p.S1687Y Substitution - Missense 5:119166705-119166705 + TCGA-FW-A3R5-06 COSM3918488 c.4906C>T p.P1636S Substitution - Missense 5:119165216-119165216 + HCC009T COSM1059937 c.346A>G p.I116V Substitution - Missense 5:119105240-119105240 + CHC1595T COSM4951175 c.5192A>G p.Y1731C Substitution - Missense 5:119167658-119167658 + LS411 COSM3134423 c.1222_1223insT p.L410fs*5 Insertion - Frameshift 5:119129330-119129331 + S00933 COSM310623 c.2957A>C p.Y986S Substitution - Missense 5:119148784-119148784 + HCC174 COSM3661330 c.365-1G>A p.? Unknown 5:119110150-119110150 + PS-286-3D COSM4423758 c.6629A>G p.H2210R Substitution - Missense 5:119171917-119171917 + CSCC-44-T COSM4560119 c.8369G>C p.R2790T Substitution - Missense 5:119233370-119233370 + HCC083T COSM5816431 c.8574T>C p.H2858H Substitution - coding silent 5:119239003-119239003 + HCC103T COSM3661332 c.7864-6A>T p.? Unknown 5:119216895-119216895 + TCGA-GF-A6C9-06 COSM4899557 c.4668C>T p.S1556S Substitution - coding silent 5:119152002-119152002 + TCGA-CA-6717-01 COSM1432650 c.5014T>G p.F1672V Substitution - Missense 5:119166659-119166659 + BJAB COSM1580790 c.6770C>T p.T2257M Substitution - Missense 5:119177368-119177368 + TCGA-BR-8487-01 COSM4127313 c.4098T>A p.N1366K Substitution - Missense 5:119149925-119149925 + 9113_T COSM5041278 c.5350A>G p.S1784G Substitution - Missense 5:119167816-119167816 + TCGA-EI-6917-01 COSM5826300 c.6758+2T>C p.? Unknown 5:119175339-119175339 + ESCC-F32 COSM5047523 c.2042G>A p.C681Y Substitution - Missense 5:119133966-119133966 + 08-P1004 COSM4585340 c.1110A>G p.P370P Substitution - coding silent 5:119129218-119129218 + TCGA-AP-A054-01 COSM1059942 c.1254A>G p.E418E Substitution - coding silent 5:119129362-119129362 + T2940 COSM4678180 c.1878T>C p.S626S Substitution - coding silent 5:119133802-119133802 + GC_357T-GC_357N COSM4774091 c.4205C>T p.S1402F Substitution - Missense 5:119150032-119150032 + pfg143T COSM4760563 c.5037A>C p.K1679N Substitution - Missense 5:119166682-119166682 + 3N09-VS-3T09 COSM4979272 c.6379C>T p.Q2127* Substitution - Nonsense 5:119171170-119171170 + TCGA-B5-A11E-01 COSM1059970 c.5477G>A p.R1826H Substitution - Missense 5:119170268-119170268 + PD13607a COSM5800651 c.6650C>T p.S2217L Substitution - Missense 5:119171938-119171938 + LUAD-CHTN-MAD06-00668 COSM360064 c.727A>G p.S243G Substitution - Missense 5:119116320-119116320 + TCGA-BH-A18P-01 COSM5219033 c.9022G>C p.E3008Q Substitution - Missense 5:119247094-119247094 + TCGA-AX-A0J1-01 COSM1059968 c.4729G>A p.A1577T Substitution - Missense 5:119164533-119164533 + ESCC-F32 COSM5047522 c.2042G>A p.C681Y Substitution - Missense 5:119133966-119133966 + STC263 COSM5060583 c.7657G>A p.A2553T Substitution - Missense 5:119197868-119197868 + ATL075 COSM5709433 c.6530A>G p.Q2177R Substitution - Missense 5:119171818-119171818 + TCGA-EI-6917-01 COSM1671820 c.6917C>A p.S2306Y Substitution - Missense 5:119178026-119178026 + TCGA-G3-A7M5-01 COSM4941846 c.82T>G p.F28V Substitution - Missense 5:119071651-119071651 + T2269 COSM4678192 c.5256C>T p.I1752I Substitution - coding silent 5:119167722-119167722 + TCGA-AA-A00E-01 COSM298280 c.4293G>A p.T1431T Substitution - coding silent 5:119150120-119150120 + DLBCL1021 COSM1580783 c.3118A>G p.I1040V Substitution - Missense 5:119148945-119148945 + ESO-864 COSM1250293 c.1471G>T p.D491Y Substitution - Missense 5:119133287-119133287 + 202_T COSM1619349 c.5222A>G p.Y1741C Substitution - Missense 5:119167688-119167688 + LS411 COSM4337781 c.1222_1223insT p.L410fs*5 Insertion - Frameshift 5:119129330-119129331 + TCGA-CM-5344-01 COSM1432651 c.6344A>T p.N2115I Substitution - Missense 5:119171135-119171135 + TCGA-BQ-7046-01 COSM3993911 c.7235C>G p.P2412R Substitution - Missense 5:119189807-119189807 + P144 COSM1737083 c.5317C>G p.R1773G Substitution - Missense 5:119167783-119167783 + SNU-C4 COSM4337788 c.4975_4976insA p.N1661fs*13 Insertion - Frameshift 5:119166620-119166621 + LUAD-D01382 COSM337147 c.4971-1G>T p.? Unknown 5:119166615-119166615 + S02400 COSM5699904 c.253C>A p.P85T Substitution - Missense 5:119101974-119101974 + ESO-1427 COSM1250288 c.7065G>A p.M2355I Substitution - Missense 5:119178174-119178174 + B88 COSM1753922 c.3260G>C p.G1087A Substitution - Missense 5:119149087-119149087 + TCGA-BH-A18P-01 COSM448473 c.1134G>A p.L378L Substitution - coding silent 5:119129242-119129242 + LUAD-S01381 COSM405237 c.3711G>T p.V1237V Substitution - coding silent 5:119149538-119149538 + TCGA-B5-A0JY-01 COSM1059944 c.1278A>G p.V426V Substitution - coding silent 5:119129386-119129386 + TCGA-A8-A09Z-01 COSM1432648 c.4976delA p.N1661fs*4 Deletion - Frameshift 5:119166621-119166621 + 51 COSM5734584 c.7175G>A p.R2392H Substitution - Missense 5:119189747-119189747 + pfg019T COSM1642566 c.2500_2502delGAA p.E835delE Deletion - In frame 5:119144569-119144571 + TCGA-EI-6917-01 COSM3428851 c.2189C>T p.S730F Substitution - Missense 5:119134113-119134113 + HCC134T COSM1619348 c.2278G>A p.A760T Substitution - Missense 5:119134291-119134291 + 4000_T COSM3946772 c.1494C>A p.P498P Substitution - coding silent 5:119133310-119133310 + Pat_48_B COSM5867087 c.2626C>T p.Q876* Substitution - Nonsense 5:119146893-119146893 + H2009 COSM1193904 c.292T>C p.Y98H Substitution - Missense 5:119105186-119105186 + S02299 COSM5690727 c.9110A>T p.N3037I Substitution - Missense 5:119247182-119247182 + TCGA-66-2727-01 COSM734989 c.3387A>G p.K1129K Substitution - coding silent 5:119149214-119149214 + TCGA-HU-A4G8-01 COSM4127319 c.4476C>T p.H1492H Substitution - coding silent 5:119150303-119150303 + HCC2998 COSM1671820 c.6917C>A p.S2306Y Substitution - Missense 5:119178026-119178026 + PT25 COSM5830002 c.3748G>A p.V1250I Substitution - Missense 5:119149575-119149575 + TCGA-D5-6529-01 COSM5161650 c.1309G>T p.D437Y Substitution - Missense 5:119129417-119129417 + OSCC-GB_00330111 COSM3714971 c.8080G>C p.D2694H Substitution - Missense 5:119220947-119220947 + Pat_02_B COSM5867085 c.1712G>A p.R571H Substitution - Missense 5:119133636-119133636 + 46M COSM5587638 c.818C>A p.P273Q Substitution - Missense 5:119118889-119118889 + TCGA-AK-3427-01 COSM1495859 c.7458-2A>T p.? Unknown 5:119196369-119196369 + 9102_T COSM5041534 c.1448T>G p.L483R Substitution - Missense 5:119133264-119133264 + TCGA-BR-4362-01 COSM4127295 c.209G>A p.G70D Substitution - Missense 5:119098100-119098100 + TCGA-F5-6814-01 COSM5826302 c.8059G>T p.E2687* Substitution - Nonsense 5:119220517-119220517 + cSCCP5 COSM137893 c.1679A>T p.Q560L Substitution - Missense 5:119133603-119133603 + TCGA-D1-A167-01 COSM1059957 c.3262G>T p.G1088C Substitution - Missense 5:119149089-119149089 + TCGA-AK-3427-01 COSM1495860 c.7136-2A>T p.? Unknown 5:119189706-119189706 + TCGA-A3-3380-01 COSM1495860 c.7136-2A>T p.? Unknown 5:119189706-119189706 + TCGA-F5-6814-01 COSM5826299 c.5699C>T p.T1900I Substitution - Missense 5:119170490-119170490 + 824_T COSM3946776 c.2965G>A p.A989T Substitution - Missense 5:119148792-119148792 + YULOCUS COSM5401985 c.6055C>T p.P2019S Substitution - Missense 5:119170846-119170846 + TCGA-ER-A19T-01 COSM4897622 c.1111C>G p.L371V Substitution - Missense 5:119129219-119129219 + 3N41-VS-3T41 COSM4981847 c.7091C>G p.A2364G Substitution - Missense 5:119178200-119178200 + TCGA-D1-A15X-01 COSM1059937 c.346A>G p.I116V Substitution - Missense 5:119105240-119105240 + TCGA-D9-A6EC-06 COSM4403803 c.4923T>A p.I1641I Substitution - coding silent 5:119165233-119165233 + TCGA-DD-A3A3-01 COSM4912629 c.3081A>G p.P1027P Substitution - coding silent 5:119148908-119148908 + 28 COSM4778170 c.1483A>T p.S495C Substitution - Missense 5:119133299-119133299 + HT115 COSM3134417 c.910G>T p.E304* Substitution - Nonsense 5:119118981-119118981 + TCGA-BR-4188-01 COSM4127299 c.1612G>A p.D538N Substitution - Missense 5:119133536-119133536 + 46M COSM5587639 c.818C>A p.P273Q Substitution - Missense 5:119118889-119118889 + Gp5D COSM3134545 c.8241T>C p.V2747V Substitution - coding silent 5:119224735-119224735 + 68 COSM5014514 c.3941C>A p.A1314E Substitution - Missense 5:119149768-119149768 + CHEWS020 COSM4585344 c.6433G>A p.G2145R Substitution - Missense 5:119171224-119171224 + SNUH_G76_S1 COSM4003270 c.9012G>C p.V3004V Substitution - coding silent 5:119247084-119247084 + PT36 COSM5915377 c.1751C>T p.S584L Substitution - Missense 5:119133675-119133675 + TCGA-AP-A0LP-01 COSM1059964 c.4123A>G p.T1375A Substitution - Missense 5:119149950-119149950 + TCGA-E9-A1RH-01 COSM5230477 c.4832G>A p.W1611* Substitution - Nonsense 5:119164636-119164636 + TCGA-34-5231-01 COSM734990 c.2380T>A p.Y794N Substitution - Missense 5:119143844-119143844 + ATL051 COSM4127315 c.4106G>A p.R1369H Substitution - Missense 5:119149933-119149933 + ESCC-F3 COSM5047468 c.859A>G p.T287A Substitution - Missense 5:119118930-119118930 + TCGA-DK-A3WW-01 COSM3776121 c.4867G>C p.E1623Q Substitution - Missense 5:119164671-119164671 + SC_9021 COSM5560270 c.3918G>C p.M1306I Substitution - Missense 5:119149745-119149745 + RK026_C01 COSM1633891 c.1675A>G p.I559V Substitution - Missense 5:119133599-119133599 + CRC-02T COSM5455340 c.1909C>T p.R637C Substitution - Missense 5:119133833-119133833 + SNUH_G16_S1 COSM4003262 c.6117A>C p.V2039V Substitution - coding silent 5:119170908-119170908 + TCGA-G3-A7M5-01 COSM4941847 c.82T>G p.F28V Substitution - Missense 5:119071651-119071651 + TCGA-04-1347-01 COSM74385 c.3653C>G p.S1218C Substitution - Missense 5:119149480-119149480 + CSCC-62-T COSM4509304 c.8036C>T p.T2679I Substitution - Missense 5:119220557-119220557 + TCGA-FP-8099-01 COSM4127335 c.7734C>T p.N2578N Substitution - coding silent 5:119197945-119197945 + TCGA-DJ-A3V7-01 COSM3373623 c.6125G>T p.R2042L Substitution - Missense 5:119170916-119170916 + CSCC-62-T COSM4469897 c.1626C>T p.L542L Substitution - coding silent 5:119133550-119133550 + XHDG35 COSM4769526 c.3565A>G p.T1189A Substitution - Missense 5:119149392-119149392 + 381_T COSM3946779 c.7723G>T p.E2575* Substitution - Nonsense 5:119197934-119197934 + T2269 COSM4678194 c.5995G>T p.D1999Y Substitution - Missense 5:119170786-119170786 + TCGA-CJ-4907-01 COSM481781 c.3040A>G p.N1014D Substitution - Missense 5:119148867-119148867 + PT47 COSM5930245 c.8209A>T p.S2737C Substitution - Missense 5:119221013-119221013 + CHEWS024 COSM4585340 c.1110A>G p.P370P Substitution - coding silent 5:119129218-119129218 + 9102_T COSM5041533 c.1448T>G p.L483R Substitution - Missense 5:119133264-119133264 + CSCC-44-T COSM4560945 c.862G>T p.E288* Substitution - Nonsense 5:119118933-119118933 + ESCC_26 COSM5627123 c.8377G>C p.E2793Q Substitution - Missense 5:119233378-119233378 + DLBCL690 COSM1582024 c.7387_7389delAAT p.N2463delN Deletion - In frame 5:119193900-119193902 + TCGA-AX-A0J0-01 COSM1059940 c.671C>A p.S224Y Substitution - Missense 5:119116264-119116264 + T3024 COSM4678174 c.213G>T p.K71N Substitution - Missense 5:119098104-119098104 + LOVO COSM4344061 c.7618C>T p.R2540* Substitution - Nonsense 5:119197829-119197829 + 08-P1004 COSM4585345 c.7257G>A p.A2419A Substitution - coding silent 5:119189829-119189829 + HCC07T COSM131346 c.2165T>A p.V722D Substitution - Missense 5:119134089-119134089 + TCGA-BS-A0UF-01 COSM1059936 c.276G>T p.K92N Substitution - Missense 5:119101997-119101997 + TCGA-CI-6619-01 COSM1567547 c.1772G>A p.S591N Substitution - Missense 5:119133696-119133696 + TCGA-EI-6917-01 COSM3428857 c.8786C>A p.S2929Y Substitution - Missense 5:119244503-119244503 + T2940 COSM4678195 c.6167G>A p.R2056H Substitution - Missense 5:119170958-119170958 + RK225_C01 COSM4944779 c.2377-8A>T p.? Unknown 5:119143833-119143833 + Pat_06_A COSM5867095 c.6925G>A p.E2309K Substitution - Missense 5:119178034-119178034 + 28 COSM4778169 c.1483A>T p.S495C Substitution - Missense 5:119133299-119133299 + B88 COSM1753924 c.3804G>C p.Q1268H Substitution - Missense 5:119149631-119149631 + TCGA-F5-6814-01 COSM3428855 c.6905G>A p.R2302Q Substitution - Missense 5:119178014-119178014 + TCGA-AO-A12E-01 COSM3826602 c.3133A>G p.R1045G Substitution - Missense 5:119148960-119148960 + TCGA-BH-A18P-01 COSM5219032 c.1134G>A p.L378L Substitution - coding silent 5:119129242-119129242 + CSCC-19-T COSM4468693 c.1558C>T p.R520C Substitution - Missense 5:119133374-119133374 + 587294 COSM1203882 c.5594A>C p.H1865P Substitution - Missense 5:119170385-119170385 + YUKAT COSM5401983 c.5020G>A p.D1674N Substitution - Missense 5:119166665-119166665 + TCGA-EI-6882-01 COSM3428850 c.694C>T p.R232* Substitution - Nonsense 5:119116287-119116287 + HT115 COSM4343947 c.910G>T p.E304* Substitution - Nonsense 5:119118981-119118981 + TCGA-AO-A124-01 COSM448480 c.8491T>C p.Y2831H Substitution - Missense 5:119237409-119237409 + TCGA-A5-A0GW-01 COSM1059989 c.8609C>G p.T2870S Substitution - Missense 5:119240439-119240439 + 2492723 COSM5256327 c.3653C>T p.S1218F Substitution - Missense 5:119149480-119149480 + CHEWS020 COSM4585343 c.6433G>A p.G2145R Substitution - Missense 5:119171224-119171224 + TCGA-D3-A2J8-06 COSM3607795 c.8873C>T p.S2958F Substitution - Missense 5:119247008-119247008 + TCGA-AD-6889-01 COSM1432649 c.4999delT p.F1668fs*15 Deletion - Frameshift 5:119166644-119166644 + HN_62854 COSM122602 c.8717G>A p.R2906K Substitution - Missense 5:119244434-119244434 + CSCC-60-T COSM4561782 c.8993G>A p.G2998E Substitution - Missense 5:119247128-119247128 + TCGA-A8-A092-01 COSM5200937 c.7163A>G p.K2388R Substitution - Missense 5:119189735-119189735 + TCGA-B4-5843-01 COSM1495857 c.8276-1G>T p.? Unknown 5:119233339-119233339 + HCC168T COSM3661333 c.8041G>A p.V2681I Substitution - Missense 5:119220562-119220562 + CHEWS015 COSM4585341 c.2076C>T p.D692D Substitution - coding silent 5:119134000-119134000 + TCGA-D8-A1J8-01 COSM5223230 c.2394C>G p.V798V Substitution - coding silent 5:119143858-119143858 + CPCG0203-F1 COSM4880440 c.3282G>A p.E1094E Substitution - coding silent 5:119149109-119149109 + LIM2099 COSM4613199 c.4258_4262delTACTC p.Y1420fs*6 Deletion - Frameshift 5:119150085-119150089 + 2296_T COSM3946780 c.8365A>T p.R2789* Substitution - Nonsense 5:119233429-119233429 + TCGA-A5-A0GB-01 COSM1059951 c.2649C>G p.H883Q Substitution - Missense 5:119146916-119146916 + TCGA-BS-A0UF-01 COSM1059980 c.7609C>A p.L2537I Substitution - Missense 5:119197820-119197820 + KM12 COSM4344013 c.4550C>T p.A1517V Substitution - Missense 5:119150377-119150377 + C086 COSM5529859 c.4018C>T p.R1340W Substitution - Missense 5:119149845-119149845 + TCGA-HU-A4GU-01 COSM4127338 c.8246G>T p.R2749I Substitution - Missense 5:119224740-119224740 + TCGA-CD-A4MG-01 COSM4127294 c.205C>T p.Q69* Substitution - Nonsense 5:119098096-119098096 + SNU-175 COSM3134493 c.5143C>A p.L1715I Substitution - Missense 5:119167609-119167609 + TCGA-D8-A1J8-01 COSM3826601 c.2394C>G p.V798V Substitution - coding silent 5:119143858-119143858 + pfg008T COSM1642564 c.2093C>T p.P698L Substitution - Missense 5:119134017-119134017 + TCGA-GN-A26C-01 COSM3607788 c.4167C>T p.F1389F Substitution - coding silent 5:119149994-119149994 + TCGA-CH-5790-01 COSM1130960 c.2233C>G p.L745V Substitution - Missense 5:119134157-119134157 + 2492723 COSM1541229 c.3653C>T p.S1218F Substitution - Missense 5:119149480-119149480 + KM12 COSM1671819 c.4550C>T p.A1517V Substitution - Missense 5:119150377-119150377 + TCGA-CA-6717-01 COSM5529859 c.4018C>T p.R1340W Substitution - Missense 5:119149845-119149845 + sysucc-311T COSM202237 c.5060C>A p.S1687Y Substitution - Missense 5:119166705-119166705 + ATL062 COSM5709431 c.5285T>C p.L1762S Substitution - Missense 5:119167751-119167751 + 2492722 COSM5256327 c.3653C>T p.S1218F Substitution - Missense 5:119149480-119149480 + S01297 COSM5667688 c.7165C>T p.Q2389* Substitution - Nonsense 5:119189737-119189737 + TCGA-AN-A0XW-01 COSM5207896 c.8442G>C p.M2814I Substitution - Missense 5:119233443-119233443 + T8 COSM236727 c.6691A>T p.M2231L Substitution - Missense 5:119175270-119175270 + ESCC-211T COSM3941008 c.5A>T p.N2I Substitution - Missense 5:119071574-119071574 + TCGA-J9-A52C-01 COSM4877619 c.4681C>T p.R1561* Substitution - Nonsense 5:119152015-119152015 + STC263 COSM5060582 c.7657G>A p.A2553T Substitution - Missense 5:119197868-119197868 + T3024 COSM4678173 c.213G>T p.K71N Substitution - Missense 5:119098104-119098104 + PCSI_0057_Pa_X COSM3134460 c.3500C>T p.P1167L Substitution - Missense 5:119149327-119149327 + SNU-C2B COSM4337793 c.6352_6353insA p.R2120fs*16 Insertion - Frameshift 5:119171143-119171144 + SC_9021 COSM5560269 c.3918G>C p.M1306I Substitution - Missense 5:119149745-119149745 + S02400 COSM5699905 c.253C>A p.P85T Substitution - Missense 5:119101974-119101974 + T2269 COSM4678191 c.5256C>T p.I1752I Substitution - coding silent 5:119167722-119167722 + PD9760a COSM5789639 c.2204C>T p.A735V Substitution - Missense 5:119134128-119134128 + SC_9081 COSM5567362 c.4041C>A p.S1347S Substitution - coding silent 5:119149868-119149868 + TCGA-AD-6895-01 COSM1432646 c.4124C>T p.T1375I Substitution - Missense 5:119149951-119149951 + RCK8 COSM1580784 c.3692T>C p.M1231T Substitution - Missense 5:119149519-119149519 + TCGA-EI-6917-01 COSM5529859 c.4018C>T p.R1340W Substitution - Missense 5:119149845-119149845 + SW480 COSM3134415 c.833T>C p.L278P Substitution - Missense 5:119118904-119118904 + OSCC-GB_01060111 COSM4882550 c.4709C>G p.S1570C Substitution - Missense 5:119164513-119164513 + LUAD-E00443 COSM364014 c.8966G>T p.G2989V Substitution - Missense 5:119247101-119247101 + LUAD-F00282 COSM367383 c.5456C>A p.T1819K Substitution - Missense 5:119170247-119170247 + 8068988 COSM4388247 c.1209T>G p.T403T Substitution - coding silent 5:119129317-119129317 + TCGA-D5-6529-01 COSM5161649 c.1308T>C p.S436S Substitution - coding silent 5:119129416-119129416 + RK280_C01 COSM4944415 c.5838C>T p.S1946S Substitution - coding silent 5:119170629-119170629 + TCGA-EB-A41A-01 COSM3607794 c.8229C>T p.A2743A Substitution - coding silent 5:119224723-119224723 + CSCC-35-T COSM4480559 c.242C>T p.S81F Substitution - Missense 5:119101963-119101963 + OSCC-GB_01060111 COSM4882551 c.4709C>G p.S1570C Substitution - Missense 5:119164513-119164513 + TCGA-C5-A1MK-01 COSM4827186 c.8266C>G p.L2756V Substitution - Missense 5:119224760-119224760 + ESCC-F37 COSM5047615 c.4384G>A p.D1462N Substitution - Missense 5:119150211-119150211 + B88 COSM1753923 c.3301G>C p.E1101Q Substitution - Missense 5:119149128-119149128 + TCGA-B5-A11E-01 COSM1059982 c.7672G>A p.E2558K Substitution - Missense 5:119197883-119197883 + CHC303T COSM4950445 c.1088T>G p.I363S Substitution - Missense 5:119121125-119121125 + pfg143T COSM4760564 c.5037A>C p.K1679N Substitution - Missense 5:119166682-119166682 + HCC57T COSM1619350 c.7705C>A p.R2569S Substitution - Missense 5:119197916-119197916 + 2492720 COSM5256327 c.3653C>T p.S1218F Substitution - Missense 5:119149480-119149480 + 587376 COSM1203887 c.602A>G p.N201S Substitution - Missense 5:119116195-119116195 + TCGA-BS-A0UV-01 COSM172616 c.3761C>T p.S1254L Substitution - Missense 5:119149588-119149588 + XHDG35 COSM4769525 c.3565A>G p.T1189A Substitution - Missense 5:119149392-119149392 + ESCC-D8 COSM5046485 c.4536A>T p.L1512F Substitution - Missense 5:119150363-119150363 + TCGA-J9-A52C-01 COSM4877618 c.4681C>T p.R1561* Substitution - Nonsense 5:119152015-119152015 + TCGA-AD-6901-01 COSM1432652 c.6907C>T p.L2303F Substitution - Missense 5:119178016-119178016 + TCGA-HU-A4GU-01 COSM4127339 c.8309G>T p.R2770I Substitution - Missense 5:119224740-119224740 + TCGA-CZ-4863-01 COSM481783 c.5085A>G p.E1695E Substitution - coding silent 5:119166730-119166730 + TCGA-CG-5726-01 COSM4127320 c.4560C>T p.S1520S Substitution - coding silent 5:119150387-119150387 + 2171659 COSM4422959 c.4170C>G p.N1390K Substitution - Missense 5:119149997-119149997 + Pat_45_B COSM5867102 c.8266G>A p.G2756R Substitution - Missense 5:119221070-119221070 + HX35T COSM1619347 c.396G>A p.L132L Substitution - coding silent 5:119110182-119110182 + TCGA-BR-4362-01 COSM4127296 c.209G>A p.G70D Substitution - Missense 5:119098100-119098100 + LUAD-YINHD COSM351103 c.7803G>T p.Q2601H Substitution - Missense 5:119203376-119203376 + 33T COSM3714971 c.8080G>C p.D2694H Substitution - Missense 5:119220947-119220947 + PD14453a COSM5794836 c.4150A>G p.R1384G Substitution - Missense 5:119149977-119149977 + CHC051T COSM5349051 c.2224C>T p.L742L Substitution - coding silent 5:119134148-119134148 + PT28 COSM3134521 c.7183C>T p.P2395S Substitution - Missense 5:119189755-119189755 + 001-0002-03TD COSM1317143 c.565-7T>C p.? Unknown 5:119116151-119116151 + sysucc-834T COSM5486439 c.3288A>G p.T1096T Substitution - coding silent 5:119149115-119149115 + CHEWS015 COSM4585342 c.2076C>T p.D692D Substitution - coding silent 5:119134000-119134000 + T3049 COSM4678200 c.8781delA p.G2929fs*45 Deletion - Frameshift 5:119244435-119244435 + TCGA-EI-6917-01 COSM1059962 c.4018C>T p.R1340W Substitution - Missense 5:119149845-119149845 + TCGA-A2-A0T5-01 COSM5834920 c.8682A>C p.A2894A Substitution - coding silent 5:119240449-119240449 + TCGA-BH-A0W7-01 COSM5218065 c.891G>C p.K297N Substitution - Missense 5:119118962-119118962 + B88 COSM1753921 c.2980G>T p.D994Y Substitution - Missense 5:119148807-119148807 + TCGA-GD-A3OQ-01 COSM1310458 c.3818C>T p.S1273F Substitution - Missense 5:119149645-119149645 + TCGA-BR-8361-01 COSM4127315 c.4106G>A p.R1369H Substitution - Missense 5:119149933-119149933 + TCGA-AD-6895-01 COSM5130619 c.4124C>T p.T1375I Substitution - Missense 5:119149951-119149951 + TCGA-CA-6718-01 COSM5145302 c.4630C>A p.L1544I Substitution - Missense 5:119151964-119151964 + TCGA-B5-A0JY-01 COSM1059972 c.6020C>A p.S2007Y Substitution - Missense 5:119170811-119170811 + DLBCL922 COSM1580793 c.7588C>G p.L2530V Substitution - Missense 5:119197799-119197799 + MD-288 COSM302068 c.3691A>G p.M1231V Substitution - Missense 5:119149518-119149518 + TCGA-FW-A3R5-06 COSM3918489 c.4906C>T p.P1636S Substitution - Missense 5:119165216-119165216 + B88-Tumor COSM4005833 c.3301G>C p.E1101Q Substitution - Missense 5:119149128-119149128 + CSCC-19-T COSM4468692 c.1558C>T p.R520C Substitution - Missense 5:119133374-119133374 + TCGA-B5-A11E-01 COSM1059958 c.3411G>T p.K1137N Substitution - Missense 5:119149238-119149238 + TCGA-CC-5259-01 COSM4928016 c.1823T>A p.L608Q Substitution - Missense 5:119133747-119133747 + HCC149T COSM5817327 c.2490T>G p.L830L Substitution - coding silent 5:119144559-119144559 + TCGA-A2-A0YE-01 COSM5834920 c.8682A>C p.A2894A Substitution - coding silent 5:119240449-119240449 + TCGA-GN-A267-06 COSM3607786 c.3555C>T p.L1185L Substitution - coding silent 5:119149382-119149382 + TCGA-BR-8363-01 COSM4127336 c.8105A>G p.D2702G Substitution - Missense 5:119220972-119220972 + ccRCC-28 COSM1661481 c.1895G>C p.R632T Substitution - Missense 5:119133819-119133819 + TCGA-F5-6814-01 COSM5826301 c.6905G>A p.R2302Q Substitution - Missense 5:119178014-119178014 + CHC303T COSM4950446 c.1088T>G p.I363S Substitution - Missense 5:119121125-119121125 + TCGA-G3-A25S-01 COSM4927051 c.3746C>T p.P1249L Substitution - Missense 5:119149573-119149573 + HCC134 COSM1619348 c.2278G>A p.A760T Substitution - Missense 5:119134291-119134291 + Gp2D COSM3134545 c.8241T>C p.V2747V Substitution - coding silent 5:119224735-119224735 + TCGA-BR-8687-01 COSM4127303 c.2959T>G p.L987V Substitution - Missense 5:119148786-119148786 + TCGA-BR-8297-01 COSM4127305 c.2974T>G p.C992G Substitution - Missense 5:119148801-119148801 + PS-286-5D COSM4423759 c.6629A>G p.H2210R Substitution - Missense 5:119171917-119171917 + 273T COSM1727356 c.6291T>A p.N2097K Substitution - Missense 5:119171082-119171082 + TCGA-G9-6351-01 COSM3674257 c.2847G>T p.M949I Substitution - Missense 5:119147406-119147406 + TCGA-AZ-4315-01 COSM5830000 c.2189C>A p.S730Y Substitution - Missense 5:119134113-119134113 + TCGA-EE-A181-06 COSM3607787 c.3655T>G p.L1219V Substitution - Missense 5:119149482-119149482 + SW620 COSM3134415 c.833T>C p.L278P Substitution - Missense 5:119118904-119118904 + DN13027 COSM5800651 c.6650C>T p.S2217L Substitution - Missense 5:119171938-119171938 + S02255 COSM5680831 c.7848A>T p.K2616N Substitution - Missense 5:119203421-119203421 + PD24215a COSM5801894 c.4872_4872+1delAG p.? Unknown 5:119164676-119164677 + TCGA-EI-6917-01 COSM5826297 c.2189C>T p.S730F Substitution - Missense 5:119134113-119134113 + TCGA-FI-A2D2-01 COSM1059947 c.2287delG p.V763fs*1 Deletion - Frameshift 5:119134300-119134300 + TARGET-30-PARVNT COSM1284520 c.3123T>G p.T1041T Substitution - coding silent 5:119148950-119148950 + BK0027 COSM4186607 c.744-1G>C p.? Unknown 5:119118814-119118814 + HCC103 COSM3661332 c.7864-6A>T p.? Unknown 5:119216895-119216895 + TCGA-18-3409-01 COSM735947 c.7630C>T p.H2544Y Substitution - Missense 5:119197841-119197841 + 9227_T COSM5039661 c.5923G>A p.E1975K Substitution - Missense 5:119170714-119170714 + TCGA-AN-A0XW-01 COSM448477 c.2576C>G p.S859* Substitution - Nonsense 5:119146843-119146843 + 2171659 COSM4422958 c.4170C>G p.N1390K Substitution - Missense 5:119149997-119149997 + 08-P1004 COSM4585346 c.7257G>A p.A2419A Substitution - coding silent 5:119189829-119189829 + CHEWS024 COSM4585346 c.7257G>A p.A2419A Substitution - coding silent 5:119189829-119189829 + Pat_48_A COSM5867088 c.2626C>T p.Q876* Substitution - Nonsense 5:119146893-119146893 + TCGA-CA-6718-01 COSM1432654 c.7702C>A p.L2568I Substitution - Missense 5:119197913-119197913 + sysucc-274T COSM5476553 c.1697C>A p.P566H Substitution - Missense 5:119133621-119133621 + B88 COSM1753925 c.4002G>A p.M1334I Substitution - Missense 5:119149829-119149829 + ACINAR03 COSM1732949 c.952C>T p.R318C Substitution - Missense 5:119120989-119120989 + LIM2099 COSM4613200 c.4258_4262delTACTC p.Y1420fs*6 Deletion - Frameshift 5:119150085-119150089 + CSCC-30-T COSM4498967 c.5317C>T p.R1773W Substitution - Missense 5:119167783-119167783 + RK280_C01 COSM4944341 c.5843T>A p.L1948H Substitution - Missense 5:119170634-119170634 + NB-1056 COSM1284522 c.5517C>T p.S1839S Substitution - coding silent 5:119170308-119170308 + 2492720 COSM1541229 c.3653C>T p.S1218F Substitution - Missense 5:119149480-119149480 + TCGA-EI-6882-01 COSM5079418 c.694C>T p.R232* Substitution - Nonsense 5:119116287-119116287 + TCGA-AO-A124-01 COSM5209569 c.8554T>C p.Y2852H Substitution - Missense 5:119237409-119237409 + TCGA-CA-6717-01 COSM5829999 c.756T>C p.C252C Substitution - coding silent 5:119118827-119118827 + LIM2405 COSM4642936 c.5907C>T p.D1969D Substitution - coding silent 5:119170698-119170698 + TCGA-D5-6529-01 COSM1432642 c.1309G>T p.D437Y Substitution - Missense 5:119129417-119129417 + ESCC-D8 COSM5046486 c.4536A>T p.L1512F Substitution - Missense 5:119150363-119150363 + TCGA-18-3409-01 COSM735949 c.6772A>G p.N2258D Substitution - Missense 5:119177370-119177370 + sysucc-966T COSM5487110 c.2403C>A p.I801I Substitution - coding silent 5:119143867-119143867 + HCC29T COSM1619349 c.5222A>G p.Y1741C Substitution - Missense 5:119167688-119167688 + T1184 COSM4678185 c.4856G>A p.R1619H Substitution - Missense 5:119164660-119164660 + PD24215a COSM5801893 c.4872_4872+1delAG p.? Unknown 5:119164676-119164677 + TCGA-24-0968-01 COSM82106 c.8628T>C p.N2876N Substitution - coding silent 5:119240458-119240458 + 587342 COSM1203885 c.7552G>A p.V2518I Substitution - Missense 5:119197763-119197763 + B88-Tumor COSM4005835 c.4002G>A p.M1334I Substitution - Missense 5:119149829-119149829 + 10-276 COSM3736844 c.3709G>A p.V1237M Substitution - Missense 5:119149536-119149536 + ESCC-F3 COSM5047471 c.860C>A p.T287N Substitution - Missense 5:119118931-119118931 + TCGA-D1-A16X-01 COSM1059963 c.4106G>A p.R1369H Substitution - Missense 5:119149933-119149933 + ESCC_26 COSM5627122 c.8314G>C p.E2772Q Substitution - Missense 5:119233378-119233378 + 7T COSM3714970 c.2684C>T p.S895L Substitution - Missense 5:119146951-119146951 + HCC203T COSM131515 c.2413C>T p.Q805* Substitution - Nonsense 5:119143877-119143877 + PD13607a COSM5800652 c.6650C>T p.S2217L Substitution - Missense 5:119171938-119171938 + TCGA-CM-5344-01 COSM5157371 c.6344A>T p.N2115I Substitution - Missense 5:119171135-119171135 + HCC168 COSM3661333 c.8041G>A p.V2681I Substitution - Missense 5:119220562-119220562 + ESCC-F37 COSM5047616 c.4384G>A p.D1462N Substitution - Missense 5:119150211-119150211 + ESCC_18 COSM5626142 c.4851C>G p.I1617M Substitution - Missense 5:119164655-119164655 + TCGA-37-5819-01 COSM734992 c.355G>T p.D119Y Substitution - Missense 5:119105249-119105249 + WA54 COSM236726 c.4971-2A>G p.? Unknown 5:119166614-119166614 + 68 COSM5014513 c.3941C>A p.A1314E Substitution - Missense 5:119149768-119149768 + CSCC-11-T COSM4499434 c.5423C>T p.P1808L Substitution - Missense 5:119170214-119170214 + 9227_T COSM5039660 c.5923G>A p.E1975K Substitution - Missense 5:119170714-119170714 + TCGA-D1-A103-01 COSM1059979 c.7525G>A p.A2509T Substitution - Missense 5:119196438-119196438 + T3020 COSM4678181 c.4267T>C p.L1423L Substitution - coding silent 5:119150094-119150094 + Pat_48_B COSM5867088 c.2626C>T p.Q876* Substitution - Nonsense 5:119146893-119146893 + TCGA-AC-A23H-01 COSM3826604 c.3946C>T p.H1316Y Substitution - Missense 5:119149773-119149773 + HCC28T COSM1619347 c.396G>A p.L132L Substitution - coding silent 5:119110182-119110182 + TCGA-D1-A17Q-01 COSM1059953 c.3055C>A p.L1019I Substitution - Missense 5:119148882-119148882 + HCC159T COSM3661331 c.1540T>C p.Y514H Substitution - Missense 5:119133356-119133356 + pfg043T COSM4760559 c.1658A>C p.K553T Substitution - Missense 5:119133582-119133582 + TCGA-BS-A0UV-01 COSM1059981 c.7656C>T p.I2552I Substitution - coding silent 5:119197867-119197867 + TCGA-D1-A103-01 COSM1059990 c.8862T>C p.I2954I Substitution - coding silent 5:119246997-119246997 + pfg016T COSM1642567 c.4922_4923insT p.Y1643fs*15 Insertion - Frameshift 5:119165232-119165233 + TCGA-BR-8680-01 COSM4127312 c.3742G>T p.E1248* Substitution - Nonsense 5:119149569-119149569 + DN13027 COSM5800652 c.6650C>T p.S2217L Substitution - Missense 5:119171938-119171938 + TCGA-ER-A19G-06 COSM3918493 c.8674C>T p.L2892F Substitution - Missense 5:119240441-119240441 + TCGA-BH-A0HP-01 COSM5217738 c.1321G>A p.D441N Substitution - Missense 5:119133137-119133137 + TCGA-FI-A2F8-01 COSM1059985 c.7947T>C p.N2649N Substitution - coding silent 5:119216984-119216984 + SNUH_G16_S1 COSM4003264 c.6199G>A p.V2067M Substitution - Missense 5:119170990-119170990 + S02219 COSM5675779 c.535G>C p.D179H Substitution - Missense 5:119114512-119114512 + TCGA-BR-4188-01 COSM4127300 c.1612G>A p.D538N Substitution - Missense 5:119133536-119133536 + TCGA-AP-A051-01 COSM1059955 c.3137C>A p.P1046H Substitution - Missense 5:119148964-119148964 + SNU-C4 COSM3134489 c.4975_4976insA p.N1661fs*13 Insertion - Frameshift 5:119166620-119166621 + SNU-175 COSM4344023 c.5143C>A p.L1715I Substitution - Missense 5:119167609-119167609 + SM-4B296 COSM4410387 c.8129C>G p.T2710R Substitution - Missense 5:119220996-119220996 + 587222 COSM1059962 c.4018C>T p.R1340W Substitution - Missense 5:119149845-119149845 + TCGA-AZ-4615-01 COSM5139781 c.9121delA p.N3042fs*3 Deletion - Frameshift 5:119247193-119247193 + TCGA-BS-A0UV-01 COSM1059967 c.4682G>A p.R1561Q Substitution - Missense 5:119152016-119152016 + CSCC-11-T COSM4499435 c.5423C>T p.P1808L Substitution - Missense 5:119170214-119170214 + ESCC_21 COSM5626295 c.2527G>A p.E843K Substitution - Missense 5:119144596-119144596 + 433 COSM4433691 c.4605T>C p.T1535T Substitution - coding silent 5:119151939-119151939 + TCGA-AA-A010-01 COSM280443 c.4142G>A p.S1381N Substitution - Missense 5:119149969-119149969 + TCGA-BS-A0TJ-01 COSM1059983 c.7706G>A p.R2569H Substitution - Missense 5:119197917-119197917 + TCGA-BR-8297-01 COSM4127306 c.2974T>G p.C992G Substitution - Missense 5:119148801-119148801 + CSCC-38-T COSM4473950 c.1884C>T p.S628S Substitution - coding silent 5:119133808-119133808 + SM-4B296 COSM4410388 c.8192C>G p.T2731R Substitution - Missense 5:119220996-119220996 + B88-Tumor COSM1753924 c.3804G>C p.Q1268H Substitution - Missense 5:119149631-119149631 + ESCC_BICR_007T COSM5434166 c.8348G>A p.G2783E Substitution - Missense 5:119233349-119233349 + ESCC-F76 COSM5048593 c.5272G>T p.E1758* Substitution - Nonsense 5:119167738-119167738 + TCGA-FJ-A3ZE-01 COSM3776120 c.3905C>A p.P1302H Substitution - Missense 5:119149732-119149732 + DLBCL783 COSM1580791 c.6893C>G p.T2298S Substitution - Missense 5:119178002-119178002 + TCGA-BG-A18B-01 COSM1059946 c.1559G>A p.R520H Substitution - Missense 5:119133375-119133375 + ATL062 COSM5709430 c.5285T>C p.L1762S Substitution - Missense 5:119167751-119167751 + CSCC-62-T COSM4469896 c.1626C>T p.L542L Substitution - coding silent 5:119133550-119133550 + HCC29 COSM1619349 c.5222A>G p.Y1741C Substitution - Missense 5:119167688-119167688 + J90_T COSM3946774 c.1980A>G p.A660A Substitution - coding silent 5:119133904-119133904 + TCGA-AP-A056-01 COSM1059969 c.4868A>C p.E1623A Substitution - Missense 5:119164672-119164672 + TCGA-AX-A0J0-01 COSM1059973 c.6342A>C p.E2114D Substitution - Missense 5:119171133-119171133 + B80-8-Tumor COSM4003261 c.6117A>C p.V2039V Substitution - coding silent 5:119170908-119170908 + TCGA-D1-A16X-01 COSM1059952 c.2768T>G p.L923R Substitution - Missense 5:119147327-119147327 + SW48 COSM3134414 c.710T>C p.F237S Substitution - Missense 5:119116303-119116303 + B88-Tumor COSM4005832 c.3260G>C p.G1087A Substitution - Missense 5:119149087-119149087 + TCGA-FW-A3R5-06 COSM3918486 c.1873C>T p.L625F Substitution - Missense 5:119133797-119133797 + LUAD_E00623 COSM354443 c.6137C>G p.T2046S Substitution - Missense 5:119170928-119170928 + LUAD-NYU184 COSM370893 c.5484T>C p.F1828F Substitution - coding silent 5:119170275-119170275 + LUAD-YINHD COSM388530 c.1798A>G p.I600V Substitution - Missense 5:119133722-119133722 + PT24_2 COSM5943587 c.4970+7delA p.? Unknown 5:119165287-119165287 + PR-01-2492 COSM244064 c.5535A>T p.G1845G Substitution - coding silent 5:119170326-119170326 + TCGA-A2-A0T5-01 COSM1486228 c.8619A>C p.A2873A Substitution - coding silent 5:119240449-119240449 + T3301 COSM4678177 c.1837G>C p.V613L Substitution - Missense 5:119133761-119133761 + DLBCL833 COSM1580781 c.2387G>T p.G796V Substitution - Missense 5:119143851-119143851 + 587316 COSM337147 c.4971-1G>T p.? Unknown 5:119166615-119166615 + TCGA-EE-A2MI-06 COSM3607789 c.4346C>T p.T1449I Substitution - Missense 5:119150173-119150173 + PT24_2 COSM5943588 c.4970+7delA p.? Unknown 5:119165287-119165287 + RK280_C01 COSM4944416 c.5838C>T p.S1946S Substitution - coding silent 5:119170629-119170629 + TCGA-G3-A25S-01 COSM4927050 c.3746C>T p.P1249L Substitution - Missense 5:119149573-119149573 + TCGA-66-2766-01 COSM734987 c.4018C>A p.R1340R Substitution - coding silent 5:119149845-119149845 + TCGA-F5-6814-01 COSM3428853 c.5699C>T p.T1900I Substitution - Missense 5:119170490-119170490 + CSB16 COSM5026372 c.3780_3781insTC p.I1262fs*2 Insertion - Frameshift 5:119149607-119149608 + TCGA-D5-6529-01 COSM1432641 c.1308T>C p.S436S Substitution - coding silent 5:119129416-119129416 + TCGA-BR-6563-01 COSM4127333 c.7653T>A p.Y2551* Substitution - Nonsense 5:119197864-119197864 + B88-Tumor COSM1753920 c.2919G>C p.L973L Substitution - coding silent 5:119148746-119148746 + TCGA-EB-A24D-01 COSM3607783 c.3460C>T p.L1154L Substitution - coding silent 5:119149287-119149287 + SNUH_G16_S1 COSM4003263 c.6199G>A p.V2067M Substitution - Missense 5:119170990-119170990 + sysucc-311T COSM5466256 c.3378A>G p.L1126L Substitution - coding silent 5:119149205-119149205 + 4000_T COSM3946771 c.1494C>A p.P498P Substitution - coding silent 5:119133310-119133310 + J90_T COSM3946773 c.1980A>G p.A660A Substitution - coding silent 5:119133904-119133904 + T3058 COSM4678198 c.7705C>T p.R2569C Substitution - Missense 5:119197916-119197916 + TCGA-BT-A2LA-01 COSM1310461 c.8809G>A p.D2937N Substitution - Missense 5:119244526-119244526 + TCGA-IZ-A6M8-01 COSM3993909 c.2397T>C p.F799F Substitution - coding silent 5:119143861-119143861 + SM-4B296 COSM5035573 c.4827G>C p.G1609G Substitution - coding silent 5:119164631-119164631 + TCGA-E9-A1RH-01 COSM1486226 c.4832G>A p.W1611* Substitution - Nonsense 5:119164636-119164636 + TCGA-CI-6619-01 COSM5075963 c.1772G>A p.S591N Substitution - Missense 5:119133696-119133696 + ATL052 COSM5709428 c.1664T>C p.V555A Substitution - Missense 5:119133588-119133588 + 53M COSM735947 c.7630C>T p.H2544Y Substitution - Missense 5:119197841-119197841 + B88-Tumor COSM1753923 c.3301G>C p.E1101Q Substitution - Missense 5:119149128-119149128 + ESO-859 COSM1238687 c.924T>G p.N308K Substitution - Missense 5:119118995-119118995 + HCC206T COSM131015 c.1240_1242delAGA p.R414delR Deletion - In frame 5:119129348-119129350 + TCGA-F1-6177-01 COSM4127325 c.4838G>A p.R1613Q Substitution - Missense 5:119164642-119164642 + SW620 COSM4343945 c.833T>C p.L278P Substitution - Missense 5:119118904-119118904 + TCGA-A4-A57E-01 COSM3993908 c.661A>T p.I221F Substitution - Missense 5:119116254-119116254 + YURUS COSM1696073 c.5302C>T p.H1768Y Substitution - Missense 5:119167768-119167768 + TCGA-BP-4803-01 COSM3365783 c.5986A>G p.K1996E Substitution - Missense 5:119170777-119170777 + HCC055T COSM5823856 c.3081A>T p.P1027P Substitution - coding silent 5:119148908-119148908 + KPOPBR-03-T COSM5965223 c.7864-4G>A p.? Unknown 5:119206830-119206830 + pfg008T COSM4760560 c.2093C>T p.P698L Substitution - Missense 5:119134017-119134017 + TCGA-AZ-4315-01 COSM1250292 c.3601C>T p.R1201* Substitution - Nonsense 5:119149428-119149428 + SJRHB040 COSM3737717 c.4712C>A p.T1571K Substitution - Missense 5:119164516-119164516 + SNUH_G11_S1 COSM448475 c.1838T>G p.V613G Substitution - Missense 5:119133762-119133762 + 3N09-VS-3T09 COSM4979273 c.6379C>T p.Q2127* Substitution - Nonsense 5:119171170-119171170 + TCGA-A6-5661-01 COSM4337789 c.4976delA p.N1661fs*4 Deletion - Frameshift 5:119166621-119166621 + HCC083T COSM5816430 c.8511T>C p.H2837H Substitution - coding silent 5:119239003-119239003 + TCGA-AD-6889-01 COSM5129201 c.4999delT p.F1668fs*15 Deletion - Frameshift 5:119166644-119166644 + TCGA-EI-6917-01 COSM3428852 c.3797T>C p.I1266T Substitution - Missense 5:119149624-119149624 + PD7436a COSM3720204 c.7301A>G p.Y2434C Substitution - Missense 5:119189873-119189873 + TCGA-BQ-7046-01 COSM3993912 c.7235C>G p.P2412R Substitution - Missense 5:119189807-119189807 + TCGA-BR-8363-01 COSM4127337 c.8168A>G p.D2723G Substitution - Missense 5:119220972-119220972 + TCGA-AA-3712-01 COSM5105855 c.390C>G p.S130R Substitution - Missense 5:119110176-119110176 + TCGA-A6-5661-01 COSM1432648 c.4976delA p.N1661fs*4 Deletion - Frameshift 5:119166621-119166621 + TCGA-BP-4763-01 COSM3365781 c.947A>T p.H316L Substitution - Missense 5:119120984-119120984 + TCGA-FW-A3R5-06 COSM3918487 c.1873C>T p.L625F Substitution - Missense 5:119133797-119133797 + TCGA-AP-A051-01 COSM1059965 c.4161G>A p.Q1387Q Substitution - coding silent 5:119149988-119149988 + OSCC-GB_00070111 COSM3714970 c.2684C>T p.S895L Substitution - Missense 5:119146951-119146951 + RK145_C01 COSM3702671 c.3516A>G p.V1172V Substitution - coding silent 5:119149343-119149343 + ESCC_18 COSM5626143 c.4851C>G p.I1617M Substitution - Missense 5:119164655-119164655 + TCGA-A5-A0R7-01 COSM1059949 c.2404G>A p.V802I Substitution - Missense 5:119143868-119143868 + TCGA-AG-3892-01 COSM256775 c.157G>A p.A53T Substitution - Missense 5:119098048-119098048 + TCGA-BR-8686-01 COSM4127302 c.2301A>G p.G767G Substitution - coding silent 5:119134314-119134314 + sysucc-311T COSM5466255 c.3378A>G p.L1126L Substitution - coding silent 5:119149205-119149205 + Pat_06_A COSM5867096 c.6925G>A p.E2309K Substitution - Missense 5:119178034-119178034 + TCGA-BS-A0UF-01 COSM1059954 c.3091G>T p.E1031* Substitution - Nonsense 5:119148918-119148918 + TCGA-EI-6917-01 COSM5826303 c.8849C>A p.S2950Y Substitution - Missense 5:119244503-119244503 + cSCCP1 COSM134078 c.4670T>C p.L1557P Substitution - Missense 5:119152004-119152004 + TCGA-IN-8462-01 COSM4127308 c.3115A>T p.S1039C Substitution - Missense 5:119148942-119148942 + C086 COSM5529857 c.6425C>T p.S2142F Substitution - Missense 5:119171216-119171216 + LC_S3 COSM1186814 c.379A>G p.T127A Substitution - Missense 5:119110165-119110165 + Pat_02_B COSM5867086 c.1712G>A p.R571H Substitution - Missense 5:119133636-119133636 + sysucc-274T COSM5476554 c.1697C>A p.P566H Substitution - Missense 5:119133621-119133621 + 587376 COSM1059936 c.276G>T p.K92N Substitution - Missense 5:119101997-119101997 + RKO COSM4337781 c.1222_1223insT p.L410fs*5 Insertion - Frameshift 5:119129330-119129331 + CX-1 COSM4621690 c.5428G>A p.V1810I Substitution - Missense 5:119170219-119170219 + B80-8-Tumor COSM4003262 c.6117A>C p.V2039V Substitution - coding silent 5:119170908-119170908 + CSCC-30-T COSM4547042 c.4138G>T p.G1380* Substitution - Nonsense 5:119149965-119149965 + S02287 COSM5685726 c.4971-3T>C p.? Unknown 5:119166613-119166613 + B88-Tumor COSM1753921 c.2980G>T p.D994Y Substitution - Missense 5:119148807-119148807 + TCGA-AP-A059-01 COSM1059987 c.8538C>T p.F2846F Substitution - coding silent 5:119239030-119239030 + ESCC-F84 COSM5048812 c.8255C>T p.S2752F Substitution - Missense 5:119224749-119224749 + C0015T COSM4165085 c.4841A>T p.N1614I Substitution - Missense 5:119164645-119164645 + TCGA-A8-A0A6-01 COSM3826605 c.4596T>G p.G1532G Substitution - coding silent 5:119151930-119151930 + CSCC-32-T COSM4572948 c.917T>C p.V306A Substitution - Missense 5:119118988-119118988 + CHC1595T COSM4951176 c.5192A>G p.Y1731C Substitution - Missense 5:119167658-119167658 + PT42 COSM5925154 c.214-1G>A p.? Unknown 5:119101934-119101934 + S00933 COSM310623 c.2957A>C p.Y986S Substitution - Missense 5:119148784-119148784 + PT42 COSM5925155 c.214-1G>A p.? Unknown 5:119101934-119101934 + TCGA-A8-A092-01 COSM448478 c.7163A>G p.K2388R Substitution - Missense 5:119189735-119189735 + PS-286-5D COSM4423758 c.6629A>G p.H2210R Substitution - Missense 5:119171917-119171917 + CSCC-27-T COSM4469509 c.1602C>T p.F534F Substitution - coding silent 5:119133526-119133526 + TCGA-60-2712-01 COSM734991 c.1294G>T p.A432S Substitution - Missense 5:119129402-119129402 + TCGA-CC-A7IK-01 COSM4924645 c.6913A>T p.N2305Y Substitution - Missense 5:119178022-119178022 + ESCC-F3 COSM5047470 c.860C>A p.T287N Substitution - Missense 5:119118931-119118931 + PT35 COSM1059966 c.4642C>T p.R1548* Substitution - Nonsense 5:119151976-119151976 + RKO COSM3134423 c.1222_1223insT p.L410fs*5 Insertion - Frameshift 5:119129330-119129331 + 9113_T COSM5041279 c.5350A>G p.S1784G Substitution - Missense 5:119167816-119167816 + TCGA-A8-A09Z-01 COSM4337789 c.4976delA p.N1661fs*4 Deletion - Frameshift 5:119166621-119166621 + YUROC COSM5401982 c.3615A>C p.L1205L Substitution - coding silent 5:119149442-119149442 + ATL075 COSM5709432 c.6530A>G p.Q2177R Substitution - Missense 5:119171818-119171818 + TCGA-B5-A0JZ-01 COSM1059945 c.1297G>A p.D433N Substitution - Missense 5:119129405-119129405 + CCK81 COSM3134498 c.5588G>A p.S1863N Substitution - Missense 5:119170379-119170379 + ESCC-F84 COSM5048813 c.8318C>T p.S2773F Substitution - Missense 5:119224749-119224749 + ccRCC-62 COSM1661482 c.5324T>C p.M1775T Substitution - Missense 5:119167790-119167790 + TCGA-DU-7290-01 COSM3975129 c.4141A>T p.S1381C Substitution - Missense 5:119149968-119149968 + T3064 COSM4678175 c.1223delT p.L410fs*17 Deletion - Frameshift 5:119129331-119129331 + DLBCL1021 COSM1580786 c.3895G>T p.A1299S Substitution - Missense 5:119149722-119149722 + PET100T COSM4963597 c.3664G>T p.V1222F Substitution - Missense 5:119149491-119149491 + TCGA-E2-A15L-01 COSM5834915 c.2506G>A p.D836N Substitution - Missense 5:119144575-119144575 + LUAD-RT-S01769 COSM381040 c.919C>T p.Q307* Substitution - Nonsense 5:119118990-119118990 + TCGA-HI-7169-01 COSM3674258 c.7668C>A p.T2556T Substitution - coding silent 5:119197879-119197879 + TCGA-IZ-A6M8-01 COSM3993910 c.2397T>C p.F799F Substitution - coding silent 5:119143861-119143861 + TCGA-FP-8099-01 COSM4127334 c.7734C>T p.N2578N Substitution - coding silent 5:119197945-119197945 + S02242 COSM5677406 c.1222G>T p.V408F Substitution - Missense 5:119129330-119129330 + tumor_4145056 COSM5950103 c.7243C>T p.Q2415* Substitution - Nonsense 5:119189815-119189815 + TCGA-DD-A3A0-01 COSM4934753 c.8394A>G p.Q2798Q Substitution - coding silent 5:119233395-119233395 + ESCC_BICR_013T COSM5439387 c.4756C>A p.L1586M Substitution - Missense 5:119164560-119164560 + TCGA-D5-6540-01 COSM1432653 c.7478C>T p.A2493V Substitution - Missense 5:119196391-119196391 + CSB16 COSM5026371 c.3780_3781insTC p.I1262fs*2 Insertion - Frameshift 5:119149607-119149608 + HCC149T COSM5817328 c.2490T>G p.L830L Substitution - coding silent 5:119144559-119144559 + NB-0478 COSM1284519 c.2990T>G p.V997G Substitution - Missense 5:119148817-119148817 + CSCC-60-T COSM4561783 c.9056G>A p.G3019E Substitution - Missense 5:119247128-119247128 + T3479 COSM4678186 c.4856G>A p.R1619H Substitution - Missense 5:119164660-119164660 + Pat_48_A COSM5867087 c.2626C>T p.Q876* Substitution - Nonsense 5:119146893-119146893 + Pat_44_B COSM5867099 c.7656_7657delCG p.A2553fs*68 Deletion - Frameshift 5:119197867-119197868 + CHC051T COSM3669362 c.2224C>T p.L742L Substitution - coding silent 5:119134148-119134148 + TCGA-EE-A2GC-06 COSM3607782 c.3276C>T p.V1092V Substitution - coding silent 5:119149103-119149103 + SC_9090 COSM5549244 c.7344C>A p.A2448A Substitution - coding silent 5:119193857-119193857 + B88-Tumor COSM1753925 c.4002G>A p.M1334I Substitution - Missense 5:119149829-119149829 + CSCC-37-T COSM4450370 c.5670delT p.Y1892fs*19 Deletion - Frameshift 5:119170461-119170461 + PET100T COSM4963598 c.3664G>T p.V1222F Substitution - Missense 5:119149491-119149491 + tumor_4145056 COSM5950104 c.7243C>T p.Q2415* Substitution - Nonsense 5:119189815-119189815 + TCGA-DK-A1AC-01 COSM1310459 c.7588C>T p.L2530F Substitution - Missense 5:119197799-119197799 + TCGA-EI-6917-01 COSM5826298 c.3797T>C p.I1266T Substitution - Missense 5:119149624-119149624 + TCGA-EE-A2MP-06 COSM3607791 c.7053A>G p.L2351L Substitution - coding silent 5:119178162-119178162 + TCGA-B5-A11Y-01 COSM1059984 c.7805A>G p.E2602G Substitution - Missense 5:119203378-119203378 + 2296_T COSM3946781 c.8428A>T p.R2810* Substitution - Nonsense 5:119233429-119233429 + PT37 COSM5918622 c.6811C>T p.P2271S Substitution - Missense 5:119177409-119177409 + TCGA-CG-5726-01 COSM4127321 c.4560C>T p.S1520S Substitution - coding silent 5:119150387-119150387 + S00936 COSM310624 c.7934C>T p.A2645V Substitution - Missense 5:119216971-119216971 + CHEWS024 COSM4585339 c.1110A>G p.P370P Substitution - coding silent 5:119129218-119129218 + Gp2D COSM4344079 c.8304T>C p.V2768V Substitution - coding silent 5:119224735-119224735 + HCC174T COSM3661330 c.365-1G>A p.? Unknown 5:119110150-119110150 + T2269 COSM4678190 c.5065C>T p.L1689L Substitution - coding silent 5:119166710-119166710 + 587284 COSM1203884 c.5032C>T p.R1678C Substitution - Missense 5:119166677-119166677 + TCGA-D1-A17Q-01 COSM1059986 c.8255C>A p.S2752Y Substitution - Missense 5:119224749-119224749 + TCGA-CA-6717-01 COSM5830003 c.5014T>G p.F1672V Substitution - Missense 5:119166659-119166659 + C0015T COSM4165084 c.4841A>T p.N1614I Substitution - Missense 5:119164645-119164645 + TCGA-BR-4257-01 COSM4127297 c.486T>C p.I162I Substitution - coding silent 5:119110272-119110272 + 001-0002-11TD COSM5417690 c.565-7T>C p.? Unknown 5:119116151-119116151 + S02273 COSM5682081 c.41G>T p.G14V Substitution - Missense 5:119071610-119071610 + PT42 COSM5925152 c.4465C>T p.L1489F Substitution - Missense 5:119150292-119150292 + Pat_66_A COSM5017328 c.7256_7257insG p.V2420fs*2 Insertion - Frameshift 5:119189828-119189829 + PT50 COSM5943588 c.4970+7delA p.? Unknown 5:119165287-119165287 + TCGA-D1-A103-01 COSM1059943 c.1265C>T p.S422F Substitution - Missense 5:119129373-119129373 + TCGA-BH-A0W7-01 COSM448472 c.891G>C p.K297N Substitution - Missense 5:119118962-119118962 + CSCC-16-T COSM1059960 c.3900C>T p.F1300F Substitution - coding silent 5:119149727-119149727 + TCGA-AA-3666-01 COSM265797 c.2107A>G p.S703G Substitution - Missense 5:119134031-119134031 + TCGA-AP-A0LM-01 COSM1059941 c.914G>A p.R305Q Substitution - Missense 5:119118985-119118985 + TCGA-AG-3592-01 COSM3428858 c.8800G>A p.V2934I Substitution - Missense 5:119244517-119244517 + 381_T COSM3946778 c.7723G>T p.E2575* Substitution - Nonsense 5:119197934-119197934 + SC_9081 COSM5567363 c.4041C>A p.S1347S Substitution - coding silent 5:119149868-119149868 + TCGA-CA-6718-01 COSM1432647 c.4630C>A p.L1544I Substitution - Missense 5:119151964-119151964 + SH-0622 COSM5017328 c.7256_7257insG p.V2420fs*2 Insertion - Frameshift 5:119189828-119189829 + HCC13T COSM131345 c.68T>C p.I23T Substitution - Missense 5:119071637-119071637 + PD9760a COSM5789640 c.2204C>T p.A735V Substitution - Missense 5:119134128-119134128 + LIM2405 COSM4642935 c.5907C>T p.D1969D Substitution - coding silent 5:119170698-119170698 + Gp5D COSM4344079 c.8304T>C p.V2768V Substitution - coding silent 5:119224735-119224735 + HCC2998 COSM1671820 c.6917C>A p.S2306Y Substitution - Missense 5:119178026-119178026 + TCGA-EI-6917-01 COSM4344046 c.6917C>A p.S2306Y Substitution - Missense 5:119178026-119178026 + ESCC-F76 COSM5048590 c.3884G>T p.G1295V Substitution - Missense 5:119149711-119149711 + TCGA-29-1693-01 COSM1328308 c.6844G>C p.D2282H Substitution - Missense 5:119177442-119177442 + 2492721 COSM5256327 c.3653C>T p.S1218F Substitution - Missense 5:119149480-119149480 + CHC303T COSM4950446 c.1088T>G p.I363S Substitution - Missense 5:119121125-119121125 + TCGA-06-0648-01 COSM3409674 c.5373A>G p.I1791M Substitution - Missense 5:119167839-119167839 + TCGA-C5-A1MK-01 COSM4827187 c.8329C>G p.L2777V Substitution - Missense 5:119224760-119224760 + TCGA-D1-A101-01 COSM1059956 c.3250G>A p.E1084K Substitution - Missense 5:119149077-119149077 + B88-Tumor COSM4005831 c.2980G>T p.D994Y Substitution - Missense 5:119148807-119148807 + CSCC-44-T COSM4560946 c.862G>T p.E288* Substitution - Nonsense 5:119118933-119118933 + TCGA-EE-A2GU-06 COSM3607790 c.4648C>T p.H1550Y Substitution - Missense 5:119151982-119151982 + ESCC-F76 COSM5048592 c.5272G>T p.E1758* Substitution - Nonsense 5:119167738-119167738 + ESO-175 COSM1250290 c.3261A>G p.G1087G Substitution - coding silent 5:119149088-119149088 + TCGA-DD-A3A0-01 COSM4934752 c.8331A>G p.Q2777Q Substitution - coding silent 5:119233395-119233395 + 587238 COSM1203883 c.7708C>T p.H2570Y Substitution - Missense 5:119197919-119197919 + TCGA-FU-A3HZ-01 COSM4839639 c.127G>A p.D43N Substitution - Missense 5:119098018-119098018 + S02120 COSM5673735 c.7094A>C p.H2365P Substitution - Missense 5:119178203-119178203 + T3152 COSM4678183 c.4328_4330delATG p.D1444delD Deletion - In frame 5:119150155-119150157 + TCGA-GF-A6C9-06 COSM4899556 c.4668C>T p.S1556S Substitution - coding silent 5:119152002-119152002 + 202_T COSM3946777 c.5222A>G p.Y1741C Substitution - Missense 5:119167688-119167688 + 435 COSM4433913 c.4579C>T p.R1527* Substitution - Nonsense 5:119150406-119150406 + TCGA-AP-A0LD-01 COSM1059961 c.3947A>G p.H1316R Substitution - Missense 5:119149774-119149774 + XHDG04 COSM4768131 c.7827C>G p.I2609M Substitution - Missense 5:119203400-119203400 + TCGA-AG-A002-01 COSM260450 c.1586G>T p.R529I Substitution - Missense 5:119133510-119133510 + 08-P1004 COSM4585339 c.1110A>G p.P370P Substitution - coding silent 5:119129218-119129218 + pfg008T COSM1642564 c.2093C>T p.P698L Substitution - Missense 5:119134017-119134017 + HCC204T COSM131444 c.295A>T p.S99C Substitution - Missense 5:119105189-119105189 + S00933 COSM5662545 c.2957A>C p.Y986S Substitution - Missense 5:119148784-119148784 + TCGA-DU-7290-01 COSM3975130 c.4141A>T p.S1381C Substitution - Missense 5:119149968-119149968 + S02255 COSM5680830 c.7848A>T p.K2616N Substitution - Missense 5:119203421-119203421 + 2492721 COSM1541229 c.3653C>T p.S1218F Substitution - Missense 5:119149480-119149480 + PT42 COSM5925153 c.4465C>T p.L1489F Substitution - Missense 5:119150292-119150292 + TCGA-IN-8462-01 COSM4127307 c.3115A>T p.S1039C Substitution - Missense 5:119148942-119148942 + CSCC-62-T COSM4509305 c.8099C>T p.T2700I Substitution - Missense 5:119220557-119220557 + SC_9090 COSM5549243 c.7344C>A p.A2448A Substitution - coding silent 5:119193857-119193857 + PS-286-4D COSM4423759 c.6629A>G p.H2210R Substitution - Missense 5:119171917-119171917 + DLBCL823 COSM1580780 c.1090A>G p.N364D Substitution - Missense 5:119121127-119121127 + TCGA-BR-4357-01 COSM4127309 c.3207A>G p.R1069R Substitution - coding silent 5:119149034-119149034 + TCGA-HU-A4H6-01 COSM4127322 c.4767G>A p.M1589I Substitution - Missense 5:119164571-119164571 + 8068988 COSM4388246 c.1209T>G p.T403T Substitution - coding silent 5:119129317-119129317 + T3058 COSM4678197 c.7705C>T p.R2569C Substitution - Missense 5:119197916-119197916 + CPCG0203-F1 COSM4880439 c.3282G>A p.E1094E Substitution - coding silent 5:119149109-119149109 + HCC57 COSM1619350 c.7705C>A p.R2569S Substitution - Missense 5:119197916-119197916 + YUFIT COSM5401978 c.1754C>T p.S585F Substitution - Missense 5:119133678-119133678 + YUROC COSM5401981 c.3615A>C p.L1205L Substitution - coding silent 5:119149442-119149442 + CSCC-32-T COSM4572949 c.917T>C p.V306A Substitution - Missense 5:119118988-119118988 + sysucc-966T COSM5487111 c.2403C>A p.I801I Substitution - coding silent 5:119143867-119143867 + HCC009T COSM5819806 c.346A>G p.I116V Substitution - Missense 5:119105240-119105240 + LUAD-B01145 COSM333448 c.1986G>C p.R662S Substitution - Missense 5:119133910-119133910 + sysucc-886T COSM5766937 c.2587T>C p.F863L Substitution - Missense 5:119146854-119146854 + S01297 COSM5667687 c.7165C>T p.Q2389* Substitution - Nonsense 5:119189737-119189737 + TCGA-HU-A4H6-01 COSM4127323 c.4767G>A p.M1589I Substitution - Missense 5:119164571-119164571 + TCGA-AC-A5XS-01 COSM4391255 c.7333C>G p.Q2445E Substitution - Missense 5:119193846-119193846 + SW48 COSM4343944 c.710T>C p.F237S Substitution - Missense 5:119116303-119116303 + SNUH_G76_S1 COSM4003268 c.7593A>G p.Q2531Q Substitution - coding silent 5:119197804-119197804 + TCGA-DD-A3A3-01 COSM4912628 c.3081A>G p.P1027P Substitution - coding silent 5:119148908-119148908 + TCGA-CG-5721-01 COSM4127317 c.4401G>A p.K1467K Substitution - coding silent 5:119150228-119150228 + TCGA-AD-6901-01 COSM5130978 c.6907C>T p.L2303F Substitution - Missense 5:119178016-119178016 + LUAD-NYU1051S COSM368906 c.7141T>A p.S2381T Substitution - Missense 5:119189713-119189713 + S02273 COSM5682080 c.41G>T p.G14V Substitution - Missense 5:119071610-119071610 + S02219 COSM5675780 c.535G>C p.D179H Substitution - Missense 5:119114512-119114512 + SNUH_G10_S1 COSM4003270 c.9012G>C p.V3004V Substitution - coding silent 5:119247084-119247084 + Pat_41_B COSM5867092 c.3445G>A p.D1149N Substitution - Missense 5:119149272-119149272 + TCGA-AP-A056-01 COSM1059976 c.7417G>A p.D2473N Substitution - Missense 5:119193930-119193930 + TCGA-BR-8680-01 COSM4127326 c.5164C>A p.Q1722K Substitution - Missense 5:119167630-119167630 + B89-12-Tumor COSM1753926 c.4271A>T p.E1424V Substitution - Missense 5:119150098-119150098 + T3049 COSM4678199 c.8718delA p.G2908fs*45 Deletion - Frameshift 5:119244435-119244435 + TCGA-BP-4159-01 COSM3365782 c.5738A>T p.D1913V Substitution - Missense 5:119170529-119170529 + TCGA-F5-6814-01 COSM3428856 c.7996G>T p.E2666* Substitution - Nonsense 5:119220517-119220517 + TCGA-FW-A3R5-06 COSM1732949 c.952C>T p.R318C Substitution - Missense 5:119120989-119120989 + TCGA-AP-A0LM-01 COSM1059974 c.6398T>A p.F2133Y Substitution - Missense 5:119171189-119171189 + ITNET_0100_T COSM4963598 c.3664G>T p.V1222F Substitution - Missense 5:119149491-119149491 + NB2272T COSM1236645 c.8917C>T p.Q2973* Substitution - Nonsense 5:119247052-119247052 + TCGA-CA-6718-01 COSM5145303 c.7702C>A p.L2568I Substitution - Missense 5:119197913-119197913 + TCGA-BR-8687-01 COSM4127304 c.2959T>G p.L987V Substitution - Missense 5:119148786-119148786 + sysucc-1242T COSM5766830 c.5918A>T p.D1973V Substitution - Missense 5:119170709-119170709 + 19 COSM5746441 c.7097T>C p.V2366A Substitution - Missense 5:119178206-119178206 + TCGA-BR-8686-01 COSM4127301 c.2301A>G p.G767G Substitution - coding silent 5:119134314-119134314 + CSCC-27-T COSM4487285 c.3166C>T p.R1056C Substitution - Missense 5:119148993-119148993 + TCGA-EI-6917-01 COSM3428854 c.6758+2T>C p.? Unknown 5:119175339-119175339 + TCGA-EL-A3CR-01 COSM3373624 c.6464T>G p.I2155S Substitution - Missense 5:119171255-119171255 + TCGA-DA-A1I2-06 COSM1696072 c.5161A>G p.I1721V Substitution - Missense 5:119167627-119167627 + Pat_66_A COSM5867089 c.2677C>T p.P893S Substitution - Missense 5:119146944-119146944 + YULOCUS COSM5401986 c.6055C>T p.P2019S Substitution - Missense 5:119170846-119170846 + TCGA-18-3415-01 COSM735948 c.7439C>G p.S2480C Substitution - Missense 5:119193952-119193952 + SNUH_G11_S1 COSM4003260 c.1838T>G p.V613G Substitution - Missense 5:119133762-119133762 + AOCS-128-1-0 COSM4141387 c.6566A>G p.N2189S Substitution - Missense 5:119171854-119171854 + S02242 COSM5677405 c.1222G>T p.V408F Substitution - Missense 5:119129330-119129330 + TCGA-D5-6927-01 COSM1432638 c.159T>G p.A53A Substitution - coding silent 5:119098050-119098050 + ESCC_BICR_013T COSM5439386 c.4756C>A p.L1586M Substitution - Missense 5:119164560-119164560 + TCGA-GV-A3QI-01 COSM1059937 c.346A>G p.I116V Substitution - Missense 5:119105240-119105240 + SWE-3A COSM1178307 c.4996C>A p.Q1666K Substitution - Missense 5:119166641-119166641 + TCGA-CD-A4MG-01 COSM4127293 c.205C>T p.Q69* Substitution - Nonsense 5:119098096-119098096 + TCGA-JW-A69B-01 COSM4829521 c.2816G>T p.S939I Substitution - Missense 5:119147375-119147375 + CHC1595T COSM4951176 c.5192A>G p.Y1731C Substitution - Missense 5:119167658-119167658 + TCGA-ER-A19G-06 COSM3918492 c.8611C>T p.L2871F Substitution - Missense 5:119240441-119240441 + TARGET-30-PAPBJE COSM1284521 c.4042C>T p.H1348Y Substitution - Missense 5:119149869-119149869 + T2940 COSM4678196 c.6167G>A p.R2056H Substitution - Missense 5:119170958-119170958 + TCGA-AG-3592-01 COSM5066745 c.8863G>A p.V2955I Substitution - Missense 5:119244517-119244517 + TCGA-D8-A1XQ-01 COSM4678175 c.1223delT p.L410fs*17 Deletion - Frameshift 5:119129331-119129331 + TCGA-AN-A0XW-01 COSM448479 c.8379G>C p.M2793I Substitution - Missense 5:119233443-119233443 + TCGA-AX-A05Z-01 COSM1059962 c.4018C>T p.R1340W Substitution - Missense 5:119149845-119149845 + TCGA-A4-A57E-01 COSM3993907 c.661A>T p.I221F Substitution - Missense 5:119116254-119116254 + SNUH_G16_S1 COSM4003266 c.6319A>T p.T2107S Substitution - Missense 5:119171110-119171110 + 8069192 COSM4408267 c.6600C>A p.H2200Q Substitution - Missense 5:119171888-119171888 + CSCC-44-T COSM4560118 c.8306G>C p.R2769T Substitution - Missense 5:119233370-119233370 + PS-286-3D COSM4423759 c.6629A>G p.H2210R Substitution - Missense 5:119171917-119171917 + SNUH_G10_S1 COSM4003269 c.8949G>C p.V2983V Substitution - coding silent 5:119247084-119247084 + 19 COSM5746440 c.7097T>C p.V2366A Substitution - Missense 5:119178206-119178206 + S02274 COSM5682536 c.1983A>G p.L661L Substitution - coding silent 5:119133907-119133907 + TCGA-61-1727-01 COSM1328309 c.4737C>G p.H1579Q Substitution - Missense 5:119164541-119164541 + HCC2998 COSM3134518 c.7059G>T p.E2353D Substitution - Missense 5:119178168-119178168 + CSCC-35-T COSM4555142 c.6434G>A p.G2145E Substitution - Missense 5:119171225-119171225 + PT37 COSM5918621 c.6811C>T p.P2271S Substitution - Missense 5:119177409-119177409 + B88-Tumor COSM4005834 c.3804G>C p.Q1268H Substitution - Missense 5:119149631-119149631 + HCC2998 COSM4344046 c.6917C>A p.S2306Y Substitution - Missense 5:119178026-119178026 + TCGA-AC-A23H-01 COSM5204896 c.3946C>T p.H1316Y Substitution - Missense 5:119149773-119149773 + 2334191 COSM319928 c.6005C>T p.S2002F Substitution - Missense 5:119170796-119170796 + SH-0622 COSM5017329 c.7256_7257insG p.V2420fs*2 Insertion - Frameshift 5:119189828-119189829 + TCGA-EE-A2MT-06 COSM3607780 c.931G>A p.E311K Substitution - Missense 5:119119002-119119002 + TCGA-AZ-4315-01 COSM1432643 c.2189C>A p.S730Y Substitution - Missense 5:119134113-119134113 + ESO-1060 COSM1250287 c.2226G>A p.L742L Substitution - coding silent 5:119134150-119134150 + TCGA-AO-A12E-01 COSM5834916 c.3133A>G p.R1045G Substitution - Missense 5:119148960-119148960 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.181042 5q22 605671

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 3-UTRSNV . c.9081+17A>C 5 118582928 ESCA A C Missense p.N464T c.1391A>C 5 118468902 COREAD A C Missense p.Y986S c.2957A>C 5 118484479 SCLC A C Synonymous p.A2873A c.8619A>C 5 118576144 BRCA A G IntronicSNV . c.8404-26A>G 5 118572991 NSCLC A G Missense p.E2602G c.7805A>G 5 118539073 UCEC A G Missense p.H1316R c.3947A>G 5 118485469 UCEC A G Missense p.I116V c.346A>G 5 118440935 BLCA A G Missense p.I1721V c.5161A>G 5 118503322 CM A G Missense p.I1791M c.5373A>G 5 118503534 GBM A G Missense p.K1996E c.5986A>G 5 118506472 RCCC A G Missense p.K2388R c.7163A>G 5 118525430 BRCA A G Missense p.K2839R c.8516A>G 5 118574703 ESCA A G Missense p.N1014D c.3040A>G 5 118484562 RCCC A G Missense p.S703G c.2107A>G 5 118469726 COREAD A G Missense p.T1375A c.4123A>G 5 118485645 UCEC A G Missense p.T990A c.2968A>G 5 118484490 CLL A G Synonymous p.E1695E c.5085A>G 5 118502425 RCCC A G Synonymous p.E418E c.1254A>G 5 118465057 UCEC A G Synonymous p.G1087G c.3261A>G 5 118484783 ESCA A G Synonymous p.K1129K c.3387A>G 5 118484909 LUSC A G Synonymous p.L2351L c.7053A>G 5 118513857 CM A G Synonymous p.R1069R c.3207A>G 5 118484729 STAD A T Missense p.D1913V c.5738A>T 5 118506224 RCCC A T Missense p.H316L c.947A>T 5 118456679 RCCC A T Missense p.K1995N c.5985A>T 5 118506471 LUAD A T Missense p.S1381C c.4141A>T 5 118485663 LGG A T Synonymous p.S1804S c.5412A>T 5 118505898 BRCA ATT - InFrameDeletion p.I814delI c.2440_2442delATT 5 118479596 LGG CACATACA - IntronicDeletion . c.87+10399_87+10406delACATACAC 5 118417749 CLL C A Missense p.P2629H c.7886C>A 5 118552618 CM C A Missense p.T2705K c.8114C>A 5 118556676 THCA C A Synonymous p.R1340R c.4018C>A 5 118485540 LUSC C A Synonymous p.T2556T c.7668C>A 5 118533574 PRAD CG AT Missense p.S2410Y c.7229_7230delinsAT 5 118525496 CM C G Missense p.H883Q c.2649C>G 5 118482611 UCEC C G Missense p.L371V c.1111C>G 5 118464914 CM C G Missense p.L745V c.2233C>G 5 118469852 PRAD C G Missense p.S1218C c.3653C>G 5 118485175 OV C G Missense p.S2480C c.7439C>G 5 118529647 LUSC C G Missense p.T2870S c.8609C>G 5 118576134 UCEC C G Nonsense p.S859* c.2576C>G 5 118482538 BRCA CTACAGGTAACT - SpliceDonorDeletion . c.6753_6758+6delCTACAGGTAACT 5 118511027 BRCA CTC - InFrameDeletion p.P1906delP c.5716_5718delCCT 5 118506200 CM C T IntronicSNV . c.1103-801C>T 5 118464105 HC C T Missense p.A1010V c.3029C>T 5 118484551 CM C T Missense p.A2645V c.7934C>T 5 118552666 SCLC C T Missense p.H1348Y c.4042C>T 5 118485564 NB C T Missense p.H1550Y c.4648C>T 5 118487677 CM C T Missense p.L2871F c.8611C>T 5 118576136 CM C T Missense p.P1327S c.3979C>T 5 118485501 CM C T Missense p.P698L c.2093C>T 5 118469712 STAD C T Missense p.P758L c.2273C>T 5 118469981 HC C T Missense p.S1273F c.3818C>T 5 118485340 BLCA C T Missense p.S2002F c.6005C>T 5 118506491 SCLC C T Missense p.S2381L c.7142C>T 5 118525409 LUAD C T Missense p.S2958F c.8873C>T 5 118582703 CM C T Missense p.S601L c.1802C>T 5 118469421 LUAD C T Missense p.T138I c.413C>T 5 118445894 COREAD C T Missense p.T1431M c.4292C>T 5 118485814 COREAD C T Missense p.T1449I c.4346C>T 5 118485868 CM C T Missense p.T1615I c.4844C>T 5 118500343 HNSC C T Missense p.T1860I c.5579C>T 5 118506065 ESCA C T Nonsense p.Q2973* c.8917C>T 5 118582747 NB C T Nonsense p.R1201* c.3601C>T 5 118485123 ESCA C T Nonsense p.R2539* c.7615C>T 5 118533521 CM C T Synonymous p.A726A c.2178C>T 5 118469797 COREAD C T Synonymous p.F1389F c.4167C>T 5 118485689 CM C T Synonymous p.L1154L c.3460C>T 5 118484982 CM C T Synonymous p.L1185L c.3555C>T 5 118485077 CM C T Synonymous p.L625L c.1875C>T 5 118469494 BLCA C T Synonymous p.S1520S c.4560C>T 5 118486082 STAD C T Synonymous p.S169S c.507C>T 5 118450179 CM C T Synonymous p.S1839S c.5517C>T 5 118506003 NB C T Synonymous p.V1092V c.3276C>T 5 118484798 CM GAA - InFrameDeletion p.E835delE c.2505_2507delAGA 5 118480264 STAD G A Missense p.A309T c.925G>A 5 118454691 LUAD G A Missense p.D1994N c.5980G>A 5 118506466 UCEC G A Missense p.D2937N c.8809G>A 5 118580221 BLCA G A Missense p.D441N c.1321G>A 5 118468832 BRCA G A Missense p.D538N c.1612G>A 5 118469231 STAD G A Missense p.D836N c.2506G>A 5 118480270 BRCA G A Missense p.E2542K c.7624G>A 5 118533530 HNSC G A Missense p.E311K c.931G>A 5 118454697 CM G A Missense p.E913K c.2737G>A 5 118482991 LUAD G A Missense p.M2355I c.7065G>A 5 118513869 ESCA G A Missense p.R124H c.371G>A 5 118445852 HNSC G A Missense p.R1613Q c.4838G>A 5 118500337 STAD G A Missense p.R2569H c.7706G>A 5 118533612 UCEC G A Missense p.R2792K c.8375G>A 5 118569134 CM G A Missense p.R2906K c.8717G>A 5 118580129 HNSC G A Nonsense p.W1611* c.4832G>A 5 118500331 BRCA G A Synonymous p.K2035K c.6105G>A 5 118506591 CM G A Synonymous p.L742L c.2226G>A 5 118469845 ESCA G A Synonymous p.Q1487Q c.4461G>A 5 118485983 CLL G A Synonymous p.R727R c.2181G>A 5 118469800 HNSC G C Missense p.D1444H c.4330G>C 5 118485852 LUAD G C Missense p.G824R c.2470G>C 5 118480234 CM G C Missense p.K297N c.891G>C 5 118454657 BRCA G C Missense p.M1235I c.3705G>C 5 118485227 HNSC G C Missense p.M2793I c.8379G>C 5 118569138 BRCA G C Missense p.V2879L c.8635G>C 5 118576160 HNSC G - Frameshift p.G2733Afs*6 c.8198delG 5 118556759 LUAD G - Frameshift p.V763*fs*1 c.2287delG 5 118469995 UCEC G T Missense p.A432S c.1294G>T 5 118465097 LUSC G T Missense p.A775S c.2323G>T 5 118470031 STAD G T Missense p.D119Y c.355G>T 5 118440944 LUSC G T Missense p.D1385Y c.4153G>T 5 118485675 LUAD G T Missense p.D1417Y c.4249G>T 5 118485771 LUAD G T Missense p.D491Y c.1471G>T 5 118468982 ESCA G T Missense p.G1568V c.4703G>T 5 118500202 LUAD G T Missense p.G2088V c.6263G>T 5 118506749 COREAD G T Missense p.G457C c.1369G>T 5 118468880 LUAD G T Missense p.R1069I c.3206G>T 5 118484728 LUAD G T Missense p.R1201L c.3602G>T 5 118485124 LUSC G T SpliceAcceptorSNV . c.4971-1G>T 5 118502310 LUAD T A IntronicSNV . c.5399-1140T>A 5 118504745 CLL T A Missense p.F357Y c.1070T>A 5 118456802 ESCA T A Missense p.L923Q c.2768T>A 5 118483022 COREAD T A Missense p.S1831T c.5491T>A 5 118505977 HNSC T A Missense p.S975T c.2923T>A 5 118484445 CM T A Missense p.Y794N c.2380T>A 5 118479539 LUSC T A Nonsense p.L1200* c.3599T>A 5 118485121 CM - TC Frameshift p.S1261Ffs*3 c.3781_3782insTC 5 118485303 BRCA T C IntronicSNV . c.565-7T>C 5 118451846 CLL T C IntronicSNV . c.7864-4588T>C 5 118548008 CLL T C Missense p.Y2831H c.8491T>C 5 118573104 BRCA T C Synonymous p.I162I c.486T>C 5 118445967 STAD T C Synonymous p.N2649N c.7947T>C 5 118552679 UCEC T C Synonymous p.N2876N c.8628T>C 5 118576153 OV T C Synonymous p.T2755T c.8265T>C 5 118560454 RCCC - T Frameshift p.S2175Vfs*28 c.6521dupT 5 118507504 PRAD - T Frameshift p.Y1643Lfs*15 c.4927dupT 5 118500928 STAD T G IntronicSNV . c.285+43T>G 5 118437744 HC T G Missense p.I2155S c.6464T>G 5 118506950 THCA T G Missense p.L1219V c.3655T>G 5 118485177 CM T G Missense p.N308K c.924T>G 5 118454690 ESCA T G Missense p.S1687A c.5059T>G 5 118502399 RCCC T G Missense p.V733G c.2198T>G 5 118469817 CM T G Missense p.V997G c.2990T>G 5 118484512 NB T G Synonymous p.T1041T c.3123T>G 5 118484645 NB T - IntronicDeletion . c.2254+18delT 5 118469887 STAD T - IntronicDeletion . c.2911+82delC 5 118483247 HC