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 ACC 3 113145006 113145006 + Silent SNP C C T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr3:113145006C>T c.372G>A c.(370-372)ctG>ctA p.L124L BLCA 3 113085025 113085025 + Missense_Mutation SNP C C T TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 g.chr3:113085025C>T c.2576G>A c.(2575-2577)gGa>gAa p.G859E BLCA 3 113085026 113085026 + Nonsense_Mutation SNP C C A TCGA-GU-A763-01A-11D-A32B-08 TCGA-GU-A763-10A-01D-A329-08 g.chr3:113085026C>A c.2575G>T c.(2575-2577)Gga>Tga p.G859* BLCA 3 113098205 113098205 + Missense_Mutation SNP G G C TCGA-KQ-A41P-01A-12D-A339-08 TCGA-KQ-A41P-10F-01D-A339-08 g.chr3:113098205G>C c.2246C>G c.(2245-2247)tCt>tGt p.S749C BLCA 3 113098266 113098266 + Nonsense_Mutation SNP T T A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 g.chr3:113098266T>A c.2185A>T c.(2185-2187)Aaa>Taa p.K729* BLCA 3 113098267 113098267 + Silent SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 g.chr3:113098267C>T c.2184G>A c.(2182-2184)gaG>gaA p.E728E BLCA 3 113098284 113098284 + Nonsense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 g.chr3:113098284G>A c.2167C>T c.(2167-2169)Cag>Tag p.Q723* BLCA 3 113114608 113114608 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 g.chr3:113114608G>C c.1879C>G c.(1879-1881)Ccc>Gcc p.P627A BLCA 3 113118832 113118832 + Missense_Mutation SNP T T C TCGA-E7-A541-01A-11D-A26M-08 TCGA-E7-A541-10A-01D-A26K-08 g.chr3:113118832T>C c.1490A>G c.(1489-1491)tAt>tGt p.Y497C BLCA 3 113120125 113120125 + Missense_Mutation SNP C C T TCGA-BT-A2LA-01A-11D-A18F-08 TCGA-BT-A2LA-11A-11D-A18F-08 g.chr3:113120125C>T c.1336G>A c.(1336-1338)Gga>Aga p.G446R BLCA 3 113128028 113128028 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr3:113128028G>A c.815C>T c.(814-816)tCt>tTt p.S272F BLCA 3 113128116 113128116 + Missense_Mutation SNP G G C TCGA-PQ-A6FI-01A-11D-A31L-08 TCGA-PQ-A6FI-10A-01D-A31J-08 g.chr3:113128116G>C c.727C>G c.(727-729)Ctg>Gtg p.L243V BLCA 3 113128161 113128161 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr3:113128161C>T c.682G>A c.(682-684)Gag>Aag p.E228K BLCA 3 113135451 113135451 + Silent SNP G G A TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr3:113135451G>A c.594C>T c.(592-594)ttC>ttT p.F198F BLCA 3 113145001 113145001 + Nonsense_Mutation SNP G G C TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 g.chr3:113145001G>C c.377C>G c.(376-378)tCa>tGa p.S126* BRCA 3 113010507 113010507 + Nonsense_Mutation SNP G G T TCGA-AO-A1KO-01A-31D-A188-09 TCGA-AO-A1KO-10A-01D-A13O-09 g.chr3:113010507G>T c.5462C>A c.(5461-5463)tCg>tAg p.S1821* BRCA 3 113013534 113013534 + Splice_Site SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr3:113013534C>T c.5373G>A c.(5371-5373)caG>caA p.Q1791Q BRCA 3 113027091 113027091 + Nonsense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:113027091G>C c.4541C>G c.(4540-4542)tCa>tGa p.S1514* BRCA 3 113046579 113046579 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr3:113046579C>T c.4204G>A c.(4204-4206)Gac>Aac p.D1402N BRCA 3 113049172 113049172 + Missense_Mutation SNP C C T TCGA-E9-A247-01A-11D-A167-09 TCGA-E9-A247-10A-01D-A167-09 g.chr3:113049172C>T c.3959G>A c.(3958-3960)cGt>cAt p.R1320H BRCA 3 113049481 113049481 + Missense_Mutation SNP A A G TCGA-A2-A0EQ-01A-11W-A050-09 TCGA-A2-A0EQ-10A-01W-A055-09 g.chr3:113049481A>G c.3650T>C c.(3649-3651)aTt>aCt p.I1217T BRCA 3 113063398 113063398 + Missense_Mutation SNP T T G TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 g.chr3:113063398T>G c.3227A>C c.(3226-3228)gAg>gCg p.E1076A BRCA 3 113082076 113082077 + Frame_Shift_Del DEL CT CT - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr3:113082076_113082077delCT c.2849_2850delAG c.(2848-2850)gagfs p.E950fs BRCA 3 113082085 113082085 + Silent SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr3:113082085C>T c.2841G>A c.(2839-2841)cgG>cgA p.R947R BRCA 3 113085110 113085110 + Nonsense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr3:113085110G>A c.2491C>T c.(2491-2493)Cga>Tga p.R831* BRCA 3 113092289 113092289 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr3:113092289C>T c.2413G>A c.(2413-2415)Gag>Aag p.E805K BRCA 3 113098205 113098205 + Missense_Mutation SNP G G T TCGA-A2-A0CX-01A-21W-A019-09 TCGA-A2-A0CX-10A-01W-A021-09 g.chr3:113098205G>T c.2246C>A c.(2245-2247)tCt>tAt p.S749Y BRCA 3 113098230 113098230 + Missense_Mutation SNP C C T TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 g.chr3:113098230C>T c.2221G>A c.(2221-2223)Gaa>Aaa p.E741K BRCA 3 113119414 113119414 + Silent SNP G G T TCGA-E2-A570-01A-11D-A29N-09 TCGA-E2-A570-10A-01D-A29N-09 g.chr3:113119414G>T c.1452C>A c.(1450-1452)ctC>ctA p.L484L BRCA 3 113119482 113119482 + Missense_Mutation SNP G G T TCGA-E2-A1LH-01A-11D-A14G-09 TCGA-E2-A1LH-11A-22D-A14G-09 g.chr3:113119482G>T c.1384C>A c.(1384-1386)Cca>Aca p.P462T BRCA 3 113122794 113122794 + Nonsense_Mutation SNP G G A TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 g.chr3:113122794G>A c.1075C>T c.(1075-1077)Cga>Tga p.R359* BRCA 3 113122819 113122819 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr3:113122819A>C c.1050T>G c.(1048-1050)ggT>ggG p.G350G BRCA 3 113138991 113138991 + Missense_Mutation SNP T T G TCGA-D8-A1JK-01A-11D-A13L-09 TCGA-D8-A1JK-10A-01D-A13O-09 g.chr3:113138991T>G c.443A>C c.(442-444)aAc>aCc p.N148T BRCA 3 113146069 113146069 + Missense_Mutation SNP C C A TCGA-AN-A04D-01A-21W-A050-09 TCGA-AN-A04D-10A-01W-A055-09 g.chr3:113146069C>A c.218G>T c.(217-219)aGt>aTt p.S73I CESC 3 113023888 113023888 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 g.chr3:113023888G>A c.4870C>T c.(4870-4872)Cac>Tac p.H1624Y CESC 3 113063421 113063421 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr3:113063421G>C c.3204C>G c.(3202-3204)agC>agG p.S1068R CESC 3 113063537 113063537 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr3:113063537C>G c.3088G>C c.(3088-3090)Gat>Cat p.D1030H CESC 3 113099823 113099823 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 g.chr3:113099823G>A c.1975C>T c.(1975-1977)Cat>Tat p.H659Y CESC 3 113120479 113120479 + Silent SNP G G A TCGA-EK-A2RL-01A-11D-A18J-09 TCGA-EK-A2RL-10A-01D-A18J-09 g.chr3:113120479G>A c.1278C>T c.(1276-1278)ttC>ttT p.F426F CHOL 3 113010415 113010415 + Missense_Mutation SNP C C T TCGA-ZH-A8Y4-01A-11D-A417-09 TCGA-ZH-A8Y4-10A-01D-A41A-09 g.chr3:113010415C>T c.5554G>A c.(5554-5556)Gca>Aca p.A1852T CHOL 3 113063555 113063555 + Nonsense_Mutation SNP G G A TCGA-ZD-A8I3-01A-11D-A417-09 TCGA-ZD-A8I3-10A-01D-A41A-09 g.chr3:113063555G>A c.3070C>T c.(3070-3072)Cga>Tga p.R1024* COAD 3 113081984 113081984 + Missense_Mutation SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr3:113081984A>G c.2942T>C c.(2941-2943)cTa>cCa p.L981P COAD 3 113084990 113084990 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr3:113084990G>T c.2611C>A c.(2611-2613)Cgt>Agt p.R871S COAD 3 113098288 113098288 + Silent SNP T T C TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr3:113098288T>C c.2163A>G c.(2161-2163)gaA>gaG p.E721E COAD 3 113098288 113098288 + Silent SNP T T C TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr3:113098288T>C c.2163A>G c.(2161-2163)gaA>gaG p.E721E COAD 3 113098289 113098289 + Missense_Mutation SNP T T C TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr3:113098289T>C c.2162A>G c.(2161-2163)gAa>gGa p.E721G COAD 3 113115487 113115487 + Missense_Mutation SNP T T A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr3:113115487T>A c.1657A>T c.(1657-1659)Att>Ttt p.I553F COAD 3 113120560 113120560 + Silent SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr3:113120560A>G c.1197T>C c.(1195-1197)acT>acC p.T399T COAD 3 113127977 113127977 + Missense_Mutation SNP G G C TCGA-AY-4071-01A-01W-1073-09 TCGA-AY-4071-10A-01W-1073-09 g.chr3:113127977G>C c.866C>G c.(865-867)aCt>aGt p.T289S COAD 3 113128035 113128035 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:113128035C>T c.808G>A c.(808-810)Gct>Act p.A270T COAD 3 113135378 113135378 + Missense_Mutation SNP G G T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr3:113135378G>T c.667C>A c.(667-669)Ctt>Att p.L223I COAD 3 113138965 113138965 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:113138965C>T c.469G>A c.(469-471)Gcc>Acc p.A157T COAD 3 113145069 113145069 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:113145069C>A c.309G>T c.(307-309)aaG>aaT p.K103N COAD 3 113146159 113146159 + Frame_Shift_Del DEL A A - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr3:113146159delA c.128delT c.(127-129)ttafs p.L43fs COAD 3 113152498 113152498 + Missense_Mutation SNP T T A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr3:113152498T>A c.14A>T c.(13-15)gAt>gTt p.D5V COADREAD 3 113081984 113081984 + Missense_Mutation SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr3:113081984A>G c.2942T>C c.(2941-2943)cTa>cCa p.L981P COADREAD 3 113084990 113084990 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr3:113084990G>T c.2611C>A c.(2611-2613)Cgt>Agt p.R871S COADREAD 3 113085054 113085054 + Missense_Mutation SNP C C A TCGA-CI-6619-01B-11D-1826-10 TCGA-CI-6619-10A-01D-1826-10 g.chr3:113085054C>A c.2547G>T c.(2545-2547)tgG>tgT p.W849C COADREAD 3 113098288 113098288 + Silent SNP T T C TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr3:113098288T>C c.2163A>G c.(2161-2163)gaA>gaG p.E721E COADREAD 3 113098288 113098288 + Silent SNP T T C TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr3:113098288T>C c.2163A>G c.(2161-2163)gaA>gaG p.E721E COADREAD 3 113098289 113098289 + Missense_Mutation SNP T T C TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr3:113098289T>C c.2162A>G c.(2161-2163)gAa>gGa p.E721G COADREAD 3 113099853 113099853 + Missense_Mutation SNP G G C TCGA-AG-3575-01A-01W-0831-10 TCGA-AG-3575-10A-01W-0831-10 g.chr3:113099853G>C c.1945C>G c.(1945-1947)Ctt>Gtt p.L649V COADREAD 3 113115475 113115475 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr3:113115475G>A c.1669C>T c.(1669-1671)Cgg>Tgg p.R557W COADREAD 3 113115487 113115487 + Missense_Mutation SNP T T A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr3:113115487T>A c.1657A>T c.(1657-1659)Att>Ttt p.I553F COADREAD 3 113115488 113115488 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:113115488C>T c.1656G>A c.(1654-1656)acG>acA p.T552T COADREAD 3 113120560 113120560 + Silent SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr3:113120560A>G c.1197T>C c.(1195-1197)acT>acC p.T399T COADREAD 3 113127977 113127977 + Missense_Mutation SNP G G C TCGA-AY-4071-01A-01W-1073-09 TCGA-AY-4071-10A-01W-1073-09 g.chr3:113127977G>C c.866C>G c.(865-867)aCt>aGt p.T289S COADREAD 3 113128035 113128035 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:113128035C>T c.808G>A c.(808-810)Gct>Act p.A270T COADREAD 3 113135378 113135378 + Missense_Mutation SNP G G T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr3:113135378G>T c.667C>A c.(667-669)Ctt>Att p.L223I COADREAD 3 113138965 113138965 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:113138965C>T c.469G>A c.(469-471)Gcc>Acc p.A157T COADREAD 3 113138965 113138965 + Missense_Mutation SNP C C T TCGA-AG-3898-01A-01W-1073-09 TCGA-AG-3898-10A-01W-1073-09 g.chr3:113138965C>T c.469G>A c.(469-471)Gcc>Acc p.A157T COADREAD 3 113145069 113145069 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:113145069C>A c.309G>T c.(307-309)aaG>aaT p.K103N COADREAD 3 113146159 113146159 + Frame_Shift_Del DEL A A - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr3:113146159delA c.128delT c.(127-129)ttafs p.L43fs COADREAD 3 113152498 113152498 + Missense_Mutation SNP T T A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr3:113152498T>A c.14A>T c.(13-15)gAt>gTt p.D5V ESCA 3 113015691 113015691 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 g.chr3:113015691C>A c.5119G>T c.(5119-5121)Ggc>Tgc p.G1707C ESCA 3 113015696 113015696 + Missense_Mutation SNP T T G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 g.chr3:113015696T>G c.5114A>C c.(5113-5115)aAg>aCg p.K1705T ESCA 3 113025140 113025140 + Nonsense_Mutation SNP G G A TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 g.chr3:113025140G>A c.4666C>T c.(4666-4668)Cga>Tga p.R1556* ESCA 3 113045421 113045421 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 g.chr3:113045421G>T c.4387C>A c.(4387-4389)Caa>Aaa p.Q1463K ESCA 3 113085073 113085073 + Missense_Mutation SNP G G C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 g.chr3:113085073G>C c.2528C>G c.(2527-2529)aCc>aGc p.T843S ESCA 3 113125833 113125833 + Nonsense_Mutation SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 g.chr3:113125833G>A c.946C>T c.(946-948)Cga>Tga p.R316* ESCA 3 113145025 113145025 + Nonsense_Mutation SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 g.chr3:113145025G>T c.353C>A c.(352-354)tCg>tAg p.S118* GBMLGG 3 113082076 113082076 + Silent SNP C C T TCGA-TQ-A7RR-01A-21D-A34A-08 TCGA-TQ-A7RR-10A-01D-A34A-08 g.chr3:113082076C>T c.2850G>A c.(2848-2850)gaG>gaA p.E950E GBMLGG 3 113098287 113098287 + Missense_Mutation SNP A A G TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 g.chr3:113098287A>G c.2164T>C c.(2164-2166)Ttt>Ctt p.F722L GBMLGG 3 113138965 113138965 + Missense_Mutation SNP C C T TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 g.chr3:113138965C>T c.469G>A c.(469-471)Gcc>Acc p.A157T HNSC 3 113084971 113084971 + Missense_Mutation SNP C C T TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 g.chr3:113084971C>T c.2630G>A c.(2629-2631)gGa>gAa p.G877E HNSC 3 113085109 113085109 + Missense_Mutation SNP C C A TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr3:113085109C>A c.2492G>T c.(2491-2493)cGa>cTa p.R831L HNSC 3 113098399 113098399 + Splice_Site SNP C C G TCGA-CR-7390-01A-11D-2012-08 TCGA-CR-7390-10A-01D-2013-08 g.chr3:113098399C>G c.e17-1 HNSC 3 113099870 113099870 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chr3:113099870T>C c.1928A>G c.(1927-1929)tAt>tGt p.Y643C HNSC 3 113099872 113099872 + Silent SNP G G A TCGA-IQ-A61L-01A-11D-A30E-08 TCGA-IQ-A61L-10A-01D-A30H-08 g.chr3:113099872G>A c.1926C>T c.(1924-1926)ggC>ggT p.G642G HNSC 3 113146035 113146035 + Splice_Site SNP T T G TCGA-BB-A5HY-01A-11D-A28R-08 TCGA-BB-A5HY-10A-01D-A28U-08 g.chr3:113146035T>G c.252A>C c.(250-252)acA>acC p.T84T HNSC 3 113152421 113152421 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 g.chr3:113152421C>G c.91G>C c.(91-93)Gaa>Caa p.E31Q KICH 3 113114596 113114596 + Splice_Site SNP C C T TCGA-KN-8421-01A-11D-2310-10 TCGA-KN-8421-11A-01D-2310-10 g.chr3:113114596C>T c.e15+1 KIPAN 3 113022837 113022837 + Missense_Mutation SNP T T G TCGA-B0-4712-01A-01D-1501-10 TCGA-B0-4712-11A-02D-1501-10 g.chr3:113022837T>G c.5003A>C c.(5002-5004)aAa>aCa p.K1668T KIPAN 3 113098217 113098217 + Missense_Mutation SNP G G A TCGA-B2-4101-01A-02D-1458-08 TCGA-B2-4101-11A-01D-1458-08 g.chr3:113098217G>A c.2234C>T c.(2233-2235)cCg>cTg p.P745L KIPAN 3 113114596 113114596 + Splice_Site SNP C C T TCGA-KN-8421-01A-11D-2310-10 TCGA-KN-8421-11A-01D-2310-10 g.chr3:113114596C>T c.e15+1 KIPAN 3 113115478 113115478 + Missense_Mutation SNP C C T TCGA-2Z-A9JL-01A-11D-A42J-10 TCGA-2Z-A9JL-10A-01D-A42M-10 g.chr3:113115478C>T c.1666G>A c.(1666-1668)Gga>Aga p.G556R KIPAN 3 113115480 113115480 + Missense_Mutation SNP G G A TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 g.chr3:113115480G>A c.1664C>T c.(1663-1665)gCg>gTg p.A555V KIPAN 3 113120585 113120585 + Splice_Site SNP A A C TCGA-MH-A55W-01A-11D-A26P-10 TCGA-MH-A55W-10A-01D-A26P-10 g.chr3:113120585A>C c.1172T>G c.(1171-1173)aTa>aGa p.I391R KIPAN 3 113125861 113125861 + Silent SNP G G A TCGA-2Z-A9J2-01A-11D-A382-10 TCGA-2Z-A9J2-10A-01D-A385-10 g.chr3:113125861G>A c.918C>T c.(916-918)acC>acT p.T306T KIPAN 3 113127995 113127995 + Missense_Mutation SNP T T G TCGA-CJ-4637-01A-02D-1386-10 TCGA-CJ-4637-11A-01D-1251-10 g.chr3:113127995T>G c.848A>C c.(847-849)gAt>gCt p.D283A KIPAN 3 113128125 113128125 + Missense_Mutation SNP C C A TCGA-BQ-7056-01A-11D-1961-08 TCGA-BQ-7056-11A-01D-1961-08 g.chr3:113128125C>A c.718G>T c.(718-720)Ggt>Tgt p.G240C KIPAN 3 113128137 113128137 + Missense_Mutation SNP A A G TCGA-B0-4811-01A-01D-1501-10 TCGA-B0-4811-11A-02D-1501-10 g.chr3:113128137A>G c.706T>C c.(706-708)Ttt>Ctt p.F236L KIRC 3 113022837 113022837 + Missense_Mutation SNP T T G TCGA-B0-4712-01A-01D-1501-10 TCGA-B0-4712-11A-02D-1501-10 g.chr3:113022837T>G c.5003A>C c.(5002-5004)aAa>aCa p.K1668T KIRC 3 113098217 113098217 + Missense_Mutation SNP G G A TCGA-B2-4101-01A-02D-1458-08 TCGA-B2-4101-11A-01D-1458-08 g.chr3:113098217G>A c.2234C>T c.(2233-2235)cCg>cTg p.P745L KIRC 3 113115480 113115480 + Missense_Mutation SNP G G A TCGA-B0-5117-01A-01D-1421-08 TCGA-B0-5117-11A-01D-1421-08 g.chr3:113115480G>A c.1664C>T c.(1663-1665)gCg>gTg p.A555V KIRC 3 113127995 113127995 + Missense_Mutation SNP T T G TCGA-CJ-4637-01A-02D-1386-10 TCGA-CJ-4637-11A-01D-1251-10 g.chr3:113127995T>G c.848A>C c.(847-849)gAt>gCt p.D283A KIRC 3 113128137 113128137 + Missense_Mutation SNP A A G TCGA-B0-4811-01A-01D-1501-10 TCGA-B0-4811-11A-02D-1501-10 g.chr3:113128137A>G c.706T>C c.(706-708)Ttt>Ctt p.F236L KIRP 3 113115478 113115478 + Missense_Mutation SNP C C T TCGA-2Z-A9JL-01A-11D-A42J-10 TCGA-2Z-A9JL-10A-01D-A42M-10 g.chr3:113115478C>T c.1666G>A c.(1666-1668)Gga>Aga p.G556R KIRP 3 113120585 113120585 + Splice_Site SNP A A C TCGA-MH-A55W-01A-11D-A26P-10 TCGA-MH-A55W-10A-01D-A26P-10 g.chr3:113120585A>C c.1172T>G c.(1171-1173)aTa>aGa p.I391R KIRP 3 113125861 113125861 + Silent SNP G G A TCGA-2Z-A9J2-01A-11D-A382-10 TCGA-2Z-A9J2-10A-01D-A385-10 g.chr3:113125861G>A c.918C>T c.(916-918)acC>acT p.T306T KIRP 3 113128125 113128125 + Missense_Mutation SNP C C A TCGA-BQ-7056-01A-11D-1961-08 TCGA-BQ-7056-11A-01D-1961-08 g.chr3:113128125C>A c.718G>T c.(718-720)Ggt>Tgt p.G240C LGG 3 113082076 113082076 + Silent SNP C C T TCGA-TQ-A7RR-01A-21D-A34A-08 TCGA-TQ-A7RR-10A-01D-A34A-08 g.chr3:113082076C>T c.2850G>A c.(2848-2850)gaG>gaA p.E950E LGG 3 113098287 113098287 + Missense_Mutation SNP A A G TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 g.chr3:113098287A>G c.2164T>C c.(2164-2166)Ttt>Ctt p.F722L LGG 3 113138965 113138965 + Missense_Mutation SNP C C T TCGA-R8-A6ML-01A-11D-A32B-08 TCGA-R8-A6ML-10A-01D-A329-08 g.chr3:113138965C>T c.469G>A c.(469-471)Gcc>Acc p.A157T LIHC 3 113092276 113092276 + Missense_Mutation SNP A A G TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr3:113092276A>G c.2426T>C c.(2425-2427)aTc>aCc p.I809T LIHC 3 113092280 113092280 + Missense_Mutation SNP G G A TCGA-CC-A5UC-01A-11D-A28X-10 TCGA-CC-A5UC-10A-01D-A28X-10 g.chr3:113092280G>A c.2422C>T c.(2422-2424)Ccc>Tcc p.P808S LIHC 3 113119484 113119484 + Missense_Mutation SNP T T C TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr3:113119484T>C c.1382A>G c.(1381-1383)gAc>gGc p.D461G LIHC 3 113120468 113120468 + Missense_Mutation SNP T T A TCGA-DD-AAW1-01A-11D-A40P-10 TCGA-DD-AAW1-10A-01D-A40P-10 g.chr3:113120468T>A c.1289A>T c.(1288-1290)aAa>aTa p.K430I LUAD 3 113082352 113082352 + Nonsense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 g.chr3:113082352C>A c.2743G>T c.(2743-2745)Gaa>Taa p.E915* LUAD 3 113082370 113082370 + Missense_Mutation SNP C C G TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr3:113082370C>G c.2725G>C c.(2725-2727)Gaa>Caa p.E909Q LUAD 3 113084966 113084966 + Missense_Mutation SNP C C T TCGA-78-7158-01A-11D-2036-08 TCGA-78-7158-10A-01D-2036-08 g.chr3:113084966C>T c.2635G>A c.(2635-2637)Gat>Aat p.D879N LUAD 3 113084979 113084979 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chr3:113084979C>A c.2622G>T c.(2620-2622)gtG>gtT p.V874V LUAD 3 113084981 113084981 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chr3:113084981C>A c.2620G>T c.(2620-2622)Gtg>Ttg p.V874L LUAD 3 113092327 113092327 + Missense_Mutation SNP T T A TCGA-44-7667-01A-31D-2063-08 TCGA-44-7667-10A-01D-2063-08 g.chr3:113092327T>A c.2375A>T c.(2374-2376)aAa>aTa p.K792I LUAD 3 113114629 113114629 + Missense_Mutation SNP C C G TCGA-55-8511-01A-11D-2393-08 TCGA-55-8511-10A-01D-2393-08 g.chr3:113114629C>G c.1858G>C c.(1858-1860)Gtg>Ctg p.V620L LUAD 3 113115417 113115417 + Missense_Mutation SNP G G A TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 g.chr3:113115417G>A c.1727C>T c.(1726-1728)gCt>gTt p.A576V LUAD 3 113115476 113115476 + Silent SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr3:113115476T>C c.1668A>G c.(1666-1668)ggA>ggG p.G556G LUAD 3 113119439 113119439 + Missense_Mutation SNP A A T TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr3:113119439A>T c.1427T>A c.(1426-1428)gTg>gAg p.V476E LUAD 3 113119471 113119471 + Silent SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 g.chr3:113119471G>T c.1395C>A c.(1393-1395)ctC>ctA p.L465L LUAD 3 113120482 113120482 + Silent SNP G G A TCGA-44-3919-01A-02D-1458-08 TCGA-44-3919-10A-01D-1458-08 g.chr3:113120482G>A c.1275C>T c.(1273-1275)ctC>ctT p.L425L LUAD 3 113120584 113120584 + Silent SNP T T A TCGA-17-Z062-01A-01W-0747-08 TCGA-17-Z062-11A-01W-0747-08 g.chr3:113120584T>A c.1173A>T c.(1171-1173)atA>atT p.I391I LUAD 3 113122856 113122856 + Missense_Mutation SNP G G A TCGA-86-8673-01A-11D-2393-08 TCGA-86-8673-10A-01D-2393-08 g.chr3:113122856G>A c.1013C>T c.(1012-1014)tCa>tTa p.S338L LUAD 3 113125860 113125860 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr3:113125860C>T c.919G>A c.(919-921)Ggt>Agt p.G307S LUAD 3 113128135 113128135 + Silent SNP A A G TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr3:113128135A>G c.708T>C c.(706-708)ttT>ttC p.F236F LUAD 3 113146176 113146176 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr3:113146176T>A c.111A>T c.(109-111)caA>caT p.Q37H LUAD 3 113152505 113152505 + Nonsense_Mutation SNP C C A TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chr3:113152505C>A c.7G>T c.(7-9)Gaa>Taa p.E3* LUSC 3 113098309 113098309 + Missense_Mutation SNP C C A TCGA-66-2763-01A-01D-1522-08 TCGA-66-2763-11A-01D-1522-08 g.chr3:113098309C>A c.2142G>T c.(2140-2142)atG>atT p.M714I LUSC 3 113098376 113098376 + Missense_Mutation SNP C C T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 g.chr3:113098376C>T c.2075G>A c.(2074-2076)aGg>aAg p.R692K LUSC 3 113122773 113122773 + Missense_Mutation SNP G G A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chr3:113122773G>A c.1096C>T c.(1096-1098)Cac>Tac p.H366Y LUSC 3 113135375 113135375 + Silent SNP G G T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr3:113135375G>T c.670C>A c.(670-672)Cga>Aga p.R224R LUSC 3 113135402 113135402 + Missense_Mutation SNP G G A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 g.chr3:113135402G>A c.643C>T c.(643-645)Cct>Tct p.P215S LUSC 3 113135435 113135435 + Missense_Mutation SNP C C A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr3:113135435C>A c.610G>T c.(610-612)Ggg>Tgg p.G204W LUSC 3 113138899 113138899 + Nonsense_Mutation SNP G G A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr3:113138899G>A c.535C>T c.(535-537)Cga>Tga p.R179* LUSC 3 113138979 113138979 + Missense_Mutation SNP A A G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 g.chr3:113138979A>G c.455T>C c.(454-456)cTg>cCg p.L152P LUSC 3 113145025 113145025 + Missense_Mutation SNP G G A TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 g.chr3:113145025G>A c.353C>T c.(352-354)tCg>tTg p.S118L LUSC 3 113146061 113146061 + Nonsense_Mutation SNP G G A TCGA-34-2600-01A-01D-1522-08 TCGA-34-2600-11A-01D-1522-08 g.chr3:113146061G>A c.226C>T c.(226-228)Cag>Tag p.Q76* OV 3 113098286 113098286 + Missense_Mutation SNP A A T TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 g.chr3:113098286A>T c.2165T>A c.(2164-2166)tTt>tAt p.F722Y OV 3 113128097 113128097 + Missense_Mutation SNP T T C TCGA-36-2537-01A-01D-1526-09 TCGA-36-2537-10A-01D-1526-09 g.chr3:113128097T>C c.746A>G c.(745-747)aAc>aGc p.N249S PAAD 3 113098247 113098249 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 g.chr3:113098247_113098249delTCC c.2202_2204delGGA c.(2200-2205)gaggaa>gaa p.734_735EE>E PAAD 3 113098247 113098249 + In_Frame_Del DEL TCC TCC - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 g.chr3:113098247_113098249delTCC c.2202_2204delGGA c.(2200-2205)gaggaa>gaa p.734_735EE>E PAAD 3 113115561 113115561 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:113115561C>T c.1583G>A c.(1582-1584)gGa>gAa p.G528E PAAD 3 113120491 113120491 + Silent SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:113120491A>G c.1266T>C c.(1264-1266)aaT>aaC p.N422N PAAD 3 113145015 113145015 + Frame_Shift_Del DEL A A - TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 g.chr3:113145015delA c.363delT c.(361-363)tttfs p.F121fs PCPG 3 113145101 113145101 + Missense_Mutation SNP C C A TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 g.chr3:113145101C>A c.277G>T c.(277-279)Gct>Tct p.A93S PRAD 3 113152410 113152410 + Splice_Site SNP A A T TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 g.chr3:113152410A>T c.e2+1 READ 3 113085054 113085054 + Missense_Mutation SNP C C A TCGA-CI-6619-01B-11D-1826-10 TCGA-CI-6619-10A-01D-1826-10 g.chr3:113085054C>A c.2547G>T c.(2545-2547)tgG>tgT p.W849C READ 3 113099853 113099853 + Missense_Mutation SNP G G C TCGA-AG-3575-01A-01W-0831-10 TCGA-AG-3575-10A-01W-0831-10 g.chr3:113099853G>C c.1945C>G c.(1945-1947)Ctt>Gtt p.L649V READ 3 113115475 113115475 + Missense_Mutation SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr3:113115475G>A c.1669C>T c.(1669-1671)Cgg>Tgg p.R557W READ 3 113115488 113115488 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:113115488C>T c.1656G>A c.(1654-1656)acG>acA p.T552T READ 3 113138965 113138965 + Missense_Mutation SNP C C T TCGA-AG-3898-01A-01W-1073-09 TCGA-AG-3898-10A-01W-1073-09 g.chr3:113138965C>T c.469G>A c.(469-471)Gcc>Acc p.A157T SARC 3 113045447 113045447 + Frame_Shift_Del DEL T T - TCGA-DX-A6B8-01A-11D-A307-09 TCGA-DX-A6B8-10A-01D-A307-09 g.chr3:113045447delT c.4361delA c.(4360-4362)aagfs p.K1454fs SARC 3 113046491 113046491 + Missense_Mutation SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr3:113046491G>A c.4292C>T c.(4291-4293)tCc>tTc p.S1431F SKCM 3 113082150 113082150 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr3:113082150C>T c.2776G>A c.(2776-2778)Gag>Aag p.E926K SKCM 3 113082325 113082325 + Splice_Site SNP T T C TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr3:113082325T>C c.2770A>G c.(2770-2772)Agt>Ggt p.S924G SKCM 3 113082376 113082376 + Missense_Mutation SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr3:113082376C>T c.2719G>A c.(2719-2721)Gga>Aga p.G907R SKCM 3 113084890 113084890 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr3:113084890G>A c.2711C>T c.(2710-2712)cCc>cTc p.P904L SKCM 3 113084920 113084920 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:113084920C>T c.2681G>A c.(2680-2682)aGg>aAg p.R894K SKCM 3 113085083 113085083 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr3:113085083G>A c.2518C>T c.(2518-2520)Cct>Tct p.P840S SKCM 3 113098242 113098242 + Missense_Mutation SNP C C G TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr3:113098242C>G c.2209G>C c.(2209-2211)Gag>Cag p.E737Q SKCM 3 113114668 113114668 + Missense_Mutation SNP C C T TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr3:113114668C>T c.1819G>A c.(1819-1821)Gat>Aat p.D607N SKCM 3 113114680 113114680 + Missense_Mutation SNP C C T TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr3:113114680C>T c.1807G>A c.(1807-1809)Gaa>Aaa p.E603K SKCM 3 113114708 113114708 + Splice_Site SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr3:113114708C>T c.e15-1 SKCM 3 113115566 113115566 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr3:113115566G>A c.1578C>T c.(1576-1578)ttC>ttT p.F526F SKCM 3 113120439 113120439 + Silent SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr3:113120439A>G c.1318T>C c.(1318-1320)Ttg>Ctg p.L440L SKCM 3 113135415 113135415 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr3:113135415G>A c.630C>T c.(628-630)atC>atT p.I210I SKCM 3 113138932 113138932 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:113138932G>A c.502C>T c.(502-504)Ctg>Ttg p.L168L SKCM 3 113138963 113138963 + Silent SNP G G A TCGA-EE-A2GT-06A-12D-A197-08 TCGA-EE-A2GT-10A-01D-A199-08 g.chr3:113138963G>A c.471C>T c.(469-471)gcC>gcT p.A157A SKCM 3 113145025 113145025 + Missense_Mutation SNP G G A TCGA-ER-A19S-06A-11D-A196-08 TCGA-ER-A19S-10A-01D-A198-08 g.chr3:113145025G>A c.353C>T c.(352-354)tCg>tTg p.S118L SKCM 3 113145080 113145080 + Missense_Mutation SNP C C T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 g.chr3:113145080C>T c.298G>A c.(298-300)Gaa>Aaa p.E100K SKCM 3 113146154 113146154 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr3:113146154C>T c.133G>A c.(133-135)Gat>Aat p.D45N

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 3 113004366 113004366 single base substitution C T downstream_gene_variant BLCA-CN 3 113003633 113003633 single base substitution G A downstream_gene_variant BLCA-CN 3 113115517 113115517 single base substitution G C 3_prime_UTR_variant BLCA-CN 3 113115517 113115517 single base substitution G C downstream_gene_variant BLCA-CN 3 113115517 113115517 single base substitution G C exon_variant BLCA-CN 3 113115517 113115517 single base substitution G C missense_variant L543V 1627C>G BLCA-US 3 113002302 113002302 single base substitution C G downstream_gene_variant BLCA-US 3 113003353 113003353 single base substitution C T downstream_gene_variant BLCA-US 3 113098284 113098284 single base substitution G A 3_prime_UTR_variant BLCA-US 3 113098284 113098284 single base substitution G A downstream_gene_variant BLCA-US 3 113098284 113098284 single base substitution G A stop_gained Q723* 2167C>T BLCA-US 3 113114608 113114608 single base substitution G C 3_prime_UTR_variant BLCA-US 3 113114608 113114608 single base substitution G C downstream_gene_variant BLCA-US 3 113114608 113114608 single base substitution G C exon_variant BLCA-US 3 113114608 113114608 single base substitution G C missense_variant P627A 1879C>G BLCA-US 3 113128161 113128161 single base substitution C T 3_prime_UTR_variant BLCA-US 3 113128161 113128161 single base substitution C T intron_variant BLCA-US 3 113128161 113128161 single base substitution C T missense_variant E228K 682G>A BLCA-US 3 113145001 113145001 single base substitution G C downstream_gene_variant BLCA-US 3 113145001 113145001 single base substitution G C exon_variant BLCA-US 3 113145001 113145001 single base substitution G C intron_variant BLCA-US 3 113145001 113145001 single base substitution G C stop_gained S126* 377C>G BRCA-EU 3 113000799 113000799 deletion of <=200bp G - downstream_gene_variant BRCA-EU 3 113002015 113002015 single base substitution C G downstream_gene_variant BRCA-EU 3 113003442 113003442 single base substitution G T downstream_gene_variant BRCA-EU 3 113003938 113003938 single base substitution C G downstream_gene_variant BRCA-EU 3 113004683 113004683 single base substitution C G downstream_gene_variant BRCA-EU 3 113006439 113006441 deletion of <=200bp TTT - 3_prime_UTR_variant BRCA-EU 3 113006439 113006441 deletion of <=200bp TTT - downstream_gene_variant BRCA-EU 3 113007456 113007456 insertion of <=200bp - T 3_prime_UTR_variant BRCA-EU 3 113007456 113007456 insertion of <=200bp - T downstream_gene_variant BRCA-EU 3 113008205 113008205 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 113008205 113008205 single base substitution G A downstream_gene_variant BRCA-EU 3 113010941 113010941 single base substitution T G downstream_gene_variant BRCA-EU 3 113010941 113010941 single base substitution T G intron_variant BRCA-EU 3 113011902 113011902 single base substitution C G downstream_gene_variant BRCA-EU 3 113011902 113011902 single base substitution C G intron_variant BRCA-EU 3 113012296 113012296 single base substitution G A downstream_gene_variant BRCA-EU 3 113012296 113012296 single base substitution G A intron_variant BRCA-EU 3 113012378 113012378 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 113012378 113012378 deletion of <=200bp A - intron_variant BRCA-EU 3 113013504 113013504 single base substitution C T downstream_gene_variant BRCA-EU 3 113013504 113013504 single base substitution C T intron_variant BRCA-EU 3 113013504 113013504 single base substitution C T upstream_gene_variant BRCA-EU 3 113013650 113013650 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 113013650 113013650 single base substitution G C exon_variant BRCA-EU 3 113013650 113013650 single base substitution G C missense_variant R1753G 5257C>G BRCA-EU 3 113013650 113013650 single base substitution G C missense_variant R356G 1066C>G BRCA-EU 3 113013650 113013650 single base substitution G C missense_variant R889G 2665C>G BRCA-EU 3 113013650 113013650 single base substitution G C upstream_gene_variant BRCA-EU 3 113013729 113013729 single base substitution G T intron_variant BRCA-EU 3 113013729 113013729 single base substitution G T upstream_gene_variant BRCA-EU 3 113016832 113016832 single base substitution C T intron_variant BRCA-EU 3 113016832 113016832 single base substitution C T upstream_gene_variant BRCA-EU 3 113017573 113017573 single base substitution A C intron_variant BRCA-EU 3 113017573 113017573 single base substitution A C upstream_gene_variant BRCA-EU 3 113018717 113018717 single base substitution C A intron_variant BRCA-EU 3 113019031 113019031 single base substitution G C intron_variant BRCA-EU 3 113022130 113022130 single base substitution C A intron_variant BRCA-EU 3 113022350 113022350 single base substitution C T intron_variant BRCA-EU 3 113022931 113022931 single base substitution C T exon_variant BRCA-EU 3 113022931 113022931 single base substitution C T missense_variant D1637N 4909G>A BRCA-EU 3 113022931 113022931 single base substitution C T missense_variant D240N 718G>A BRCA-EU 3 113022931 113022931 single base substitution C T missense_variant D773N 2317G>A BRCA-EU 3 113022931 113022931 single base substitution C T upstream_gene_variant BRCA-EU 3 113023849 113023849 single base substitution G T intron_variant BRCA-EU 3 113023849 113023849 single base substitution G T upstream_gene_variant BRCA-EU 3 113024444 113024444 single base substitution G A intron_variant BRCA-EU 3 113024444 113024444 single base substitution G A upstream_gene_variant BRCA-EU 3 113024697 113024697 single base substitution T A intron_variant BRCA-EU 3 113024697 113024697 single base substitution T A upstream_gene_variant BRCA-EU 3 113025815 113025815 single base substitution G C intron_variant BRCA-EU 3 113025815 113025815 single base substitution G C upstream_gene_variant BRCA-EU 3 113027424 113027424 deletion of <=200bp T - intron_variant BRCA-EU 3 113027424 113027424 deletion of <=200bp T - upstream_gene_variant BRCA-EU 3 113028128 113028128 single base substitution T G intron_variant BRCA-EU 3 113030138 113030138 single base substitution C G intron_variant BRCA-EU 3 113032558 113032558 insertion of <=200bp - TAAT intron_variant BRCA-EU 3 113032653 113032653 single base substitution G T intron_variant BRCA-EU 3 113034479 113034480 deletion of <=200bp AC - intron_variant BRCA-EU 3 113035398 113035398 insertion of <=200bp - A intron_variant BRCA-EU 3 113037484 113037484 single base substitution G T intron_variant BRCA-EU 3 113037810 113037810 insertion of <=200bp - C intron_variant BRCA-EU 3 113038110 113038110 insertion of <=200bp - A intron_variant BRCA-EU 3 113040016 113040016 single base substitution C G intron_variant BRCA-EU 3 113040283 113040283 single base substitution G C intron_variant BRCA-EU 3 113040991 113040991 single base substitution G A intron_variant BRCA-EU 3 113042442 113042442 deletion of <=200bp T - intron_variant BRCA-EU 3 113042442 113042442 insertion of <=200bp - T intron_variant BRCA-EU 3 113042735 113042735 deletion of <=200bp A - intron_variant BRCA-EU 3 113044358 113044358 single base substitution C T intron_variant BRCA-EU 3 113044712 113044712 single base substitution T A intron_variant BRCA-EU 3 113044750 113044750 single base substitution A C intron_variant BRCA-EU 3 113045273 113045273 single base substitution G A intron_variant BRCA-EU 3 113045275 113045278 deletion of <=200bp AAGA - intron_variant BRCA-EU 3 113045579 113045579 single base substitution C G intron_variant BRCA-EU 3 113046046 113046046 single base substitution C A intron_variant BRCA-EU 3 113046946 113046946 single base substitution T G intron_variant BRCA-EU 3 113046946 113046946 single base substitution T G upstream_gene_variant BRCA-EU 3 113047910 113047910 single base substitution C T downstream_gene_variant BRCA-EU 3 113047910 113047910 single base substitution C T intron_variant BRCA-EU 3 113047910 113047910 single base substitution C T upstream_gene_variant BRCA-EU 3 113048109 113048109 single base substitution C T downstream_gene_variant BRCA-EU 3 113048109 113048109 single base substitution C T intron_variant BRCA-EU 3 113048109 113048109 single base substitution C T upstream_gene_variant BRCA-EU 3 113048223 113048223 deletion of <=200bp G - downstream_gene_variant BRCA-EU 3 113048223 113048223 deletion of <=200bp G - intron_variant BRCA-EU 3 113048223 113048223 deletion of <=200bp G - upstream_gene_variant BRCA-EU 3 113049730 113049730 deletion of <=200bp G - downstream_gene_variant BRCA-EU 3 113049730 113049730 deletion of <=200bp G - intron_variant BRCA-EU 3 113049730 113049730 deletion of <=200bp G - upstream_gene_variant BRCA-EU 3 113050443 113050443 single base substitution T G downstream_gene_variant BRCA-EU 3 113050443 113050443 single base substitution T G intron_variant BRCA-EU 3 113050443 113050443 single base substitution T G upstream_gene_variant BRCA-EU 3 113052286 113052286 single base substitution C G downstream_gene_variant BRCA-EU 3 113052286 113052286 single base substitution C G missense_variant K1194N 3582G>C BRCA-EU 3 113052286 113052286 single base substitution C G missense_variant K330N 990G>C BRCA-EU 3 113053134 113053134 single base substitution A T intron_variant BRCA-EU 3 113053472 113053472 single base substitution T C intron_variant BRCA-EU 3 113054031 113054031 deletion of <=200bp C - intron_variant BRCA-EU 3 113054216 113054216 single base substitution A T intron_variant BRCA-EU 3 113054653 113054653 single base substitution G A intron_variant BRCA-EU 3 113055699 113055699 single base substitution G C intron_variant BRCA-EU 3 113055893 113055893 single base substitution T C intron_variant BRCA-EU 3 113057406 113057406 single base substitution T A intron_variant BRCA-EU 3 113058060 113058060 single base substitution G A intron_variant BRCA-EU 3 113058657 113058657 single base substitution T G intron_variant BRCA-EU 3 113058934 113058934 single base substitution G C intron_variant BRCA-EU 3 113059309 113059309 single base substitution G A intron_variant BRCA-EU 3 113060006 113060006 single base substitution T C intron_variant BRCA-EU 3 113060450 113060450 single base substitution T A intron_variant BRCA-EU 3 113060662 113060662 single base substitution C T 3_prime_UTR_variant BRCA-EU 3 113060662 113060662 single base substitution C T synonymous_variant T1122T 3366G>A BRCA-EU 3 113060662 113060662 single base substitution C T synonymous_variant T258T 774G>A BRCA-EU 3 113063676 113063676 single base substitution G C intron_variant BRCA-EU 3 113063699 113063699 single base substitution A G intron_variant BRCA-EU 3 113063891 113063891 single base substitution G C intron_variant BRCA-EU 3 113064930 113064930 single base substitution C A intron_variant BRCA-EU 3 113065361 113065361 single base substitution A G intron_variant BRCA-EU 3 113065377 113065377 single base substitution T G intron_variant BRCA-EU 3 113065464 113065464 single base substitution C T intron_variant BRCA-EU 3 113066573 113066573 single base substitution C A intron_variant BRCA-EU 3 113066654 113066654 single base substitution T C intron_variant BRCA-EU 3 113067188 113067188 single base substitution C T intron_variant BRCA-EU 3 113067296 113067296 single base substitution C G intron_variant BRCA-EU 3 113067969 113067969 single base substitution C G intron_variant BRCA-EU 3 113069221 113069221 single base substitution C G intron_variant BRCA-EU 3 113069396 113069396 single base substitution C T intron_variant BRCA-EU 3 113069766 113069766 single base substitution T C intron_variant BRCA-EU 3 113071764 113071764 single base substitution G C intron_variant BRCA-EU 3 113071791 113071791 single base substitution C T intron_variant BRCA-EU 3 113072560 113072560 single base substitution C T intron_variant BRCA-EU 3 113073319 113073319 single base substitution C T intron_variant BRCA-EU 3 113074569 113074569 single base substitution G A intron_variant BRCA-EU 3 113074583 113074583 single base substitution G A intron_variant BRCA-EU 3 113076304 113076304 single base substitution A C intron_variant BRCA-EU 3 113077022 113077022 single base substitution T A downstream_gene_variant BRCA-EU 3 113077022 113077022 single base substitution T A intron_variant BRCA-EU 3 113077174 113077174 insertion of <=200bp - A downstream_gene_variant BRCA-EU 3 113077174 113077174 insertion of <=200bp - A intron_variant BRCA-EU 3 113077739 113077739 single base substitution C T downstream_gene_variant BRCA-EU 3 113077739 113077739 single base substitution C T intron_variant BRCA-EU 3 113079760 113079760 single base substitution G C downstream_gene_variant BRCA-EU 3 113079760 113079760 single base substitution G C intron_variant BRCA-EU 3 113084483 113084483 single base substitution C A intron_variant BRCA-EU 3 113084483 113084483 single base substitution C A upstream_gene_variant BRCA-EU 3 113084523 113084523 single base substitution A G intron_variant BRCA-EU 3 113084523 113084523 single base substitution A G upstream_gene_variant BRCA-EU 3 113084589 113084589 deletion of <=200bp A - intron_variant BRCA-EU 3 113084589 113084589 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 113085197 113085197 single base substitution G C intron_variant BRCA-EU 3 113085197 113085197 single base substitution G C upstream_gene_variant BRCA-EU 3 113085746 113085746 single base substitution G C intron_variant BRCA-EU 3 113085746 113085746 single base substitution G C upstream_gene_variant BRCA-EU 3 113086612 113086612 single base substitution G T intron_variant BRCA-EU 3 113086612 113086612 single base substitution G T upstream_gene_variant BRCA-EU 3 113086687 113086687 deletion of <=200bp A - intron_variant BRCA-EU 3 113086687 113086687 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 113086878 113086878 single base substitution G T intron_variant BRCA-EU 3 113086878 113086878 single base substitution G T upstream_gene_variant BRCA-EU 3 113089176 113089176 single base substitution C T intron_variant BRCA-EU 3 113089176 113089176 single base substitution C T upstream_gene_variant BRCA-EU 3 113089297 113089297 single base substitution C T intron_variant BRCA-EU 3 113089297 113089297 single base substitution C T upstream_gene_variant BRCA-EU 3 113089722 113089722 single base substitution G A intron_variant BRCA-EU 3 113089722 113089722 single base substitution G A upstream_gene_variant BRCA-EU 3 113090138 113090138 single base substitution A C intron_variant BRCA-EU 3 113091311 113091311 single base substitution C T intron_variant BRCA-EU 3 113091579 113091579 deletion of <=200bp A - intron_variant BRCA-EU 3 113092010 113092010 single base substitution G C intron_variant BRCA-EU 3 113092227 113092227 deletion of <=200bp T - intron_variant BRCA-EU 3 113092396 113092396 single base substitution T C intron_variant BRCA-EU 3 113092396 113092396 single base substitution T C missense_variant Y769C 2306A>G BRCA-EU 3 113092994 113092994 single base substitution C A intron_variant BRCA-EU 3 113093196 113093196 single base substitution C A intron_variant BRCA-EU 3 113093936 113093936 single base substitution G C intron_variant BRCA-EU 3 113096617 113096617 single base substitution G T downstream_gene_variant BRCA-EU 3 113096617 113096617 single base substitution G T intron_variant BRCA-EU 3 113097686 113097686 single base substitution A C downstream_gene_variant BRCA-EU 3 113097686 113097686 single base substitution A C intron_variant BRCA-EU 3 113097687 113097687 single base substitution C T downstream_gene_variant BRCA-EU 3 113097687 113097687 single base substitution C T intron_variant BRCA-EU 3 113098602 113098602 single base substitution C G downstream_gene_variant BRCA-EU 3 113098602 113098602 single base substitution C G intron_variant BRCA-EU 3 113100628 113100628 single base substitution C A intron_variant BRCA-EU 3 113101126 113101126 single base substitution C G intron_variant BRCA-EU 3 113101404 113101404 single base substitution G C intron_variant BRCA-EU 3 113102242 113102242 single base substitution C T intron_variant BRCA-EU 3 113102612 113102612 single base substitution T A intron_variant BRCA-EU 3 113102629 113102629 single base substitution G C intron_variant BRCA-EU 3 113104059 113104061 deletion of <=200bp AAA - intron_variant BRCA-EU 3 113105340 113105340 single base substitution C G intron_variant BRCA-EU 3 113105596 113105596 single base substitution G A intron_variant BRCA-EU 3 113105903 113105903 single base substitution C A intron_variant BRCA-EU 3 113107021 113107021 single base substitution G T intron_variant BRCA-EU 3 113107527 113107527 single base substitution G A intron_variant BRCA-EU 3 113107604 113107604 deletion of <=200bp A - intron_variant BRCA-EU 3 113107844 113107844 single base substitution G A intron_variant BRCA-EU 3 113111205 113111205 single base substitution C T intron_variant BRCA-EU 3 113112241 113112241 single base substitution T A intron_variant BRCA-EU 3 113112652 113112652 single base substitution G A intron_variant BRCA-EU 3 113114158 113114158 single base substitution A G downstream_gene_variant BRCA-EU 3 113114158 113114158 single base substitution A G intron_variant BRCA-EU 3 113114468 113114468 single base substitution C T downstream_gene_variant BRCA-EU 3 113114468 113114468 single base substitution C T intron_variant BRCA-EU 3 113115618 113115618 single base substitution G C downstream_gene_variant BRCA-EU 3 113115618 113115618 single base substitution G C intron_variant BRCA-EU 3 113115914 113115914 single base substitution A G downstream_gene_variant BRCA-EU 3 113115914 113115914 single base substitution A G intron_variant BRCA-EU 3 113116527 113116527 single base substitution G T downstream_gene_variant BRCA-EU 3 113116527 113116527 single base substitution G T intron_variant BRCA-EU 3 113116527 113116527 single base substitution G T upstream_gene_variant BRCA-EU 3 113116726 113116726 single base substitution A T downstream_gene_variant BRCA-EU 3 113116726 113116726 single base substitution A T intron_variant BRCA-EU 3 113116726 113116726 single base substitution A T upstream_gene_variant BRCA-EU 3 113119198 113119198 single base substitution C A downstream_gene_variant BRCA-EU 3 113119198 113119198 single base substitution C A intron_variant BRCA-EU 3 113119198 113119198 single base substitution C A upstream_gene_variant BRCA-EU 3 113119364 113119364 single base substitution C T downstream_gene_variant BRCA-EU 3 113119364 113119364 single base substitution C T intron_variant BRCA-EU 3 113119364 113119364 single base substitution C T upstream_gene_variant BRCA-EU 3 113119667 113119667 single base substitution G C downstream_gene_variant BRCA-EU 3 113119667 113119667 single base substitution G C intron_variant BRCA-EU 3 113119667 113119667 single base substitution G C upstream_gene_variant BRCA-EU 3 113119751 113119751 single base substitution G T downstream_gene_variant BRCA-EU 3 113119751 113119751 single base substitution G T intron_variant BRCA-EU 3 113119751 113119751 single base substitution G T upstream_gene_variant BRCA-EU 3 113120137 113120137 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 113120137 113120137 deletion of <=200bp A - splice_region_variant BRCA-EU 3 113120137 113120137 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 113120404 113120404 single base substitution G A downstream_gene_variant BRCA-EU 3 113120404 113120404 single base substitution G A intron_variant BRCA-EU 3 113120404 113120404 single base substitution G A upstream_gene_variant BRCA-EU 3 113121351 113121351 single base substitution G T downstream_gene_variant BRCA-EU 3 113121351 113121351 single base substitution G T intron_variant BRCA-EU 3 113121381 113121381 single base substitution G A downstream_gene_variant BRCA-EU 3 113121381 113121381 single base substitution G A intron_variant BRCA-EU 3 113124261 113124261 single base substitution G C intron_variant BRCA-EU 3 113124261 113124261 single base substitution G C upstream_gene_variant BRCA-EU 3 113126470 113126470 single base substitution C A intron_variant BRCA-EU 3 113126470 113126470 single base substitution C A upstream_gene_variant BRCA-EU 3 113126693 113126693 single base substitution A G intron_variant BRCA-EU 3 113126693 113126693 single base substitution A G upstream_gene_variant BRCA-EU 3 113127042 113127042 single base substitution G T intron_variant BRCA-EU 3 113127042 113127042 single base substitution G T upstream_gene_variant BRCA-EU 3 113127064 113127064 single base substitution T C intron_variant BRCA-EU 3 113127064 113127064 single base substitution T C upstream_gene_variant BRCA-EU 3 113127181 113127181 deletion of <=200bp C - intron_variant BRCA-EU 3 113127181 113127181 deletion of <=200bp C - upstream_gene_variant BRCA-EU 3 113127403 113127403 single base substitution G A intron_variant BRCA-EU 3 113127403 113127403 single base substitution G A upstream_gene_variant BRCA-EU 3 113128386 113128386 single base substitution G T intron_variant BRCA-EU 3 113128492 113128492 single base substitution G C intron_variant BRCA-EU 3 113128574 113128574 single base substitution T G intron_variant BRCA-EU 3 113128803 113128803 single base substitution C A intron_variant BRCA-EU 3 113128804 113128804 single base substitution C A intron_variant BRCA-EU 3 113128846 113128846 single base substitution T C intron_variant BRCA-EU 3 113130520 113130520 single base substitution A G intron_variant BRCA-EU 3 113130610 113130610 single base substitution C G intron_variant BRCA-EU 3 113131065 113131065 deletion of <=200bp A - intron_variant BRCA-EU 3 113131534 113131534 single base substitution T A intron_variant BRCA-EU 3 113132099 113132099 single base substitution G C intron_variant BRCA-EU 3 113132279 113132279 single base substitution G A intron_variant BRCA-EU 3 113132796 113132796 single base substitution G A intron_variant BRCA-EU 3 113133669 113133669 deletion of <=200bp T - intron_variant BRCA-EU 3 113135671 113135671 single base substitution A C intron_variant BRCA-EU 3 113135903 113135903 single base substitution C T intron_variant BRCA-EU 3 113136720 113136720 single base substitution A C intron_variant BRCA-EU 3 113137092 113137092 single base substitution A C intron_variant BRCA-EU 3 113137251 113137251 single base substitution T A intron_variant BRCA-EU 3 113137610 113137610 single base substitution C T intron_variant BRCA-EU 3 113138273 113138273 single base substitution T G intron_variant BRCA-EU 3 113138837 113138837 insertion of <=200bp - T intron_variant BRCA-EU 3 113139475 113139475 single base substitution C G intron_variant BRCA-EU 3 113140002 113140002 single base substitution A C downstream_gene_variant BRCA-EU 3 113140002 113140002 single base substitution A C intron_variant BRCA-EU 3 113141825 113141825 single base substitution G A downstream_gene_variant BRCA-EU 3 113141825 113141825 single base substitution G A intron_variant BRCA-EU 3 113142550 113142550 single base substitution T G downstream_gene_variant BRCA-EU 3 113142550 113142550 single base substitution T G intron_variant BRCA-EU 3 113143667 113143667 single base substitution G A downstream_gene_variant BRCA-EU 3 113143667 113143667 single base substitution G A intron_variant BRCA-EU 3 113144481 113144484 deletion of <=200bp CAGG - downstream_gene_variant BRCA-EU 3 113144481 113144484 deletion of <=200bp CAGG - intron_variant BRCA-EU 3 113145127 113145127 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 113145127 113145127 deletion of <=200bp A - intron_variant BRCA-EU 3 113145127 113145127 deletion of <=200bp A - splice_region_variant BRCA-EU 3 113145529 113145529 single base substitution A T downstream_gene_variant BRCA-EU 3 113145529 113145529 single base substitution A T intron_variant BRCA-EU 3 113146680 113146680 single base substitution C G intron_variant BRCA-EU 3 113147085 113147085 single base substitution G T intron_variant BRCA-EU 3 113147717 113147717 deletion of <=200bp T - intron_variant BRCA-EU 3 113149205 113149205 single base substitution G T intron_variant BRCA-EU 3 113150515 113150515 single base substitution G A intron_variant BRCA-EU 3 113154374 113154374 single base substitution C T intron_variant BRCA-EU 3 113154374 113154374 single base substitution C T upstream_gene_variant BRCA-EU 3 113154412 113154412 deletion of <=200bp A - intron_variant BRCA-EU 3 113154412 113154412 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 113155177 113155178 deletion of <=200bp AC - intron_variant BRCA-EU 3 113155177 113155178 deletion of <=200bp AC - upstream_gene_variant BRCA-EU 3 113156917 113156917 single base substitution G A intron_variant BRCA-EU 3 113156917 113156917 single base substitution G A upstream_gene_variant BRCA-EU 3 113157881 113157881 single base substitution T C intron_variant BRCA-EU 3 113157881 113157881 single base substitution T C upstream_gene_variant BRCA-EU 3 113158178 113158178 single base substitution C G intron_variant BRCA-EU 3 113158178 113158178 single base substitution C G upstream_gene_variant BRCA-EU 3 113158233 113158233 deletion of <=200bp A - intron_variant BRCA-EU 3 113158233 113158233 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 113158596 113158596 single base substitution C T intron_variant BRCA-EU 3 113158596 113158596 single base substitution C T upstream_gene_variant BRCA-EU 3 113159399 113159399 single base substitution G A intron_variant BRCA-EU 3 113164784 113164784 single base substitution A T upstream_gene_variant BRCA-FR 3 113025815 113025815 single base substitution G C intron_variant BRCA-FR 3 113025815 113025815 single base substitution G C upstream_gene_variant BRCA-FR 3 113054272 113054272 single base substitution T A intron_variant BRCA-FR 3 113078832 113078832 single base substitution C T downstream_gene_variant BRCA-FR 3 113078832 113078832 single base substitution C T intron_variant BRCA-FR 3 113079760 113079760 single base substitution G C downstream_gene_variant BRCA-FR 3 113079760 113079760 single base substitution G C intron_variant BRCA-FR 3 113085746 113085746 single base substitution G C intron_variant BRCA-FR 3 113085746 113085746 single base substitution G C upstream_gene_variant BRCA-FR 3 113086612 113086612 single base substitution G T intron_variant BRCA-FR 3 113086612 113086612 single base substitution G T upstream_gene_variant BRCA-FR 3 113092010 113092010 single base substitution G C intron_variant BRCA-FR 3 113094770 113094770 single base substitution T A intron_variant BRCA-FR 3 113096617 113096617 single base substitution G T downstream_gene_variant BRCA-FR 3 113096617 113096617 single base substitution G T intron_variant BRCA-FR 3 113101126 113101126 single base substitution C G intron_variant BRCA-FR 3 113102612 113102612 single base substitution T A intron_variant BRCA-FR 3 113105340 113105340 single base substitution C G intron_variant BRCA-FR 3 113105596 113105596 single base substitution G A intron_variant BRCA-FR 3 113107527 113107527 single base substitution G A intron_variant BRCA-FR 3 113115618 113115618 single base substitution G C downstream_gene_variant BRCA-FR 3 113115618 113115618 single base substitution G C intron_variant BRCA-FR 3 113116367 113116367 single base substitution A C downstream_gene_variant BRCA-FR 3 113116367 113116367 single base substitution A C intron_variant BRCA-FR 3 113116367 113116367 single base substitution A C upstream_gene_variant BRCA-FR 3 113116527 113116527 single base substitution G T downstream_gene_variant BRCA-FR 3 113116527 113116527 single base substitution G T intron_variant BRCA-FR 3 113116527 113116527 single base substitution G T upstream_gene_variant BRCA-FR 3 113119198 113119198 single base substitution C A downstream_gene_variant BRCA-FR 3 113119198 113119198 single base substitution C A intron_variant BRCA-FR 3 113119198 113119198 single base substitution C A upstream_gene_variant BRCA-FR 3 113121351 113121351 single base substitution G T downstream_gene_variant BRCA-FR 3 113121351 113121351 single base substitution G T intron_variant BRCA-FR 3 113121381 113121381 single base substitution G A downstream_gene_variant BRCA-FR 3 113121381 113121381 single base substitution G A intron_variant BRCA-FR 3 113126470 113126470 single base substitution C A intron_variant BRCA-FR 3 113126470 113126470 single base substitution C A upstream_gene_variant BRCA-FR 3 113132279 113132279 single base substitution G A intron_variant BRCA-FR 3 113136720 113136720 single base substitution A C intron_variant BRCA-FR 3 113137610 113137610 single base substitution C T intron_variant BRCA-FR 3 113139320 113139320 single base substitution G A intron_variant BRCA-FR 3 113139894 113139894 single base substitution G T downstream_gene_variant BRCA-FR 3 113139894 113139894 single base substitution G T intron_variant BRCA-FR 3 113150515 113150515 single base substitution G A intron_variant BRCA-UK 3 113028128 113028128 single base substitution T G intron_variant BRCA-UK 3 113046580 113046580 single base substitution A T exon_variant BRCA-UK 3 113046580 113046580 single base substitution A T synonymous_variant S1401S 4203T>A BRCA-UK 3 113046580 113046580 single base substitution A T synonymous_variant S4S 12T>A BRCA-UK 3 113046580 113046580 single base substitution A T synonymous_variant S537S 1611T>A BRCA-UK 3 113074569 113074569 single base substitution G A intron_variant BRCA-UK 3 113116374 113116374 single base substitution C G downstream_gene_variant BRCA-UK 3 113116374 113116374 single base substitution C G intron_variant BRCA-UK 3 113116374 113116374 single base substitution C G upstream_gene_variant BRCA-UK 3 113131534 113131534 single base substitution T A intron_variant BRCA-UK 3 113151061 113151061 single base substitution G C intron_variant BRCA-UK 3 113151581 113151581 single base substitution G C intron_variant BRCA-UK 3 113154374 113154374 single base substitution C T intron_variant BRCA-UK 3 113154374 113154374 single base substitution C T upstream_gene_variant BRCA-UK 3 113154551 113154551 single base substitution G C intron_variant BRCA-UK 3 113154551 113154551 single base substitution G C upstream_gene_variant BRCA-UK 3 113156917 113156917 single base substitution G A intron_variant BRCA-UK 3 113156917 113156917 single base substitution G A upstream_gene_variant BRCA-US 3 113004392 113004392 single base substitution G T downstream_gene_variant BRCA-US 3 113005658 113005658 single base substitution C T downstream_gene_variant BRCA-US 3 113010507 113010507 single base substitution G T 3_prime_UTR_variant BRCA-US 3 113010507 113010507 single base substitution G T downstream_gene_variant BRCA-US 3 113010507 113010507 single base substitution G T exon_variant BRCA-US 3 113010507 113010507 single base substitution G T stop_gained S1821* 5462C>A BRCA-US 3 113010507 113010507 single base substitution G T stop_gained S957* 2870C>A BRCA-US 3 113013534 113013534 single base substitution C T downstream_gene_variant BRCA-US 3 113013534 113013534 single base substitution C T splice_region_variant BRCA-US 3 113013534 113013534 single base substitution C T upstream_gene_variant BRCA-US 3 113027091 113027091 single base substitution G C exon_variant BRCA-US 3 113027091 113027091 single base substitution G C stop_gained S117* 350C>G BRCA-US 3 113027091 113027091 single base substitution G C stop_gained S1514* 4541C>G BRCA-US 3 113027091 113027091 single base substitution G C stop_gained S650* 1949C>G BRCA-US 3 113027091 113027091 single base substitution G C upstream_gene_variant BRCA-US 3 113046579 113046579 single base substitution C T exon_variant BRCA-US 3 113046579 113046579 single base substitution C T missense_variant D1402N 4204G>A BRCA-US 3 113046579 113046579 single base substitution C T missense_variant D538N 1612G>A BRCA-US 3 113046579 113046579 single base substitution C T missense_variant D5N 13G>A BRCA-US 3 113049172 113049172 single base substitution C T downstream_gene_variant BRCA-US 3 113049172 113049172 single base substitution C T missense_variant R1320H 3959G>A BRCA-US 3 113049172 113049172 single base substitution C T missense_variant R456H 1367G>A BRCA-US 3 113049172 113049172 single base substitution C T upstream_gene_variant BRCA-US 3 113049481 113049481 single base substitution A G downstream_gene_variant BRCA-US 3 113049481 113049481 single base substitution A G missense_variant I1217T 3650T>C BRCA-US 3 113049481 113049481 single base substitution A G missense_variant I353T 1058T>C BRCA-US 3 113049481 113049481 single base substitution A G upstream_gene_variant BRCA-US 3 113063398 113063398 single base substitution T G intron_variant BRCA-US 3 113063398 113063398 single base substitution T G missense_variant E1076A 3227A>C BRCA-US 3 113063398 113063398 single base substitution T G missense_variant E212A 635A>C BRCA-US 3 113082076 113082077 deletion of <=200bp CT - 3_prime_UTR_variant BRCA-US 3 113082076 113082077 deletion of <=200bp CT - exon_variant BRCA-US 3 113082076 113082077 deletion of <=200bp CT - frameshift_variant E86 BRCA-US 3 113082076 113082077 deletion of <=200bp CT - frameshift_variant E950 BRCA-US 3 113082085 113082085 single base substitution C T 3_prime_UTR_variant BRCA-US 3 113082085 113082085 single base substitution C T exon_variant BRCA-US 3 113082085 113082085 single base substitution C T synonymous_variant R83R 249G>A BRCA-US 3 113082085 113082085 single base substitution C T synonymous_variant R947R 2841G>A BRCA-US 3 113085110 113085110 single base substitution G A intron_variant BRCA-US 3 113085110 113085110 single base substitution G A stop_gained R831* 2491C>T BRCA-US 3 113085110 113085110 single base substitution G A upstream_gene_variant BRCA-US 3 113092289 113092289 single base substitution C T intron_variant BRCA-US 3 113092289 113092289 single base substitution C T missense_variant E805K 2413G>A BRCA-US 3 113098205 113098205 single base substitution G T 3_prime_UTR_variant BRCA-US 3 113098205 113098205 single base substitution G T downstream_gene_variant BRCA-US 3 113098205 113098205 single base substitution G T missense_variant S749Y 2246C>A BRCA-US 3 113098230 113098230 single base substitution C T 3_prime_UTR_variant BRCA-US 3 113098230 113098230 single base substitution C T downstream_gene_variant BRCA-US 3 113098230 113098230 single base substitution C T missense_variant E741K 2221G>A BRCA-US 3 113119414 113119414 single base substitution G T 3_prime_UTR_variant BRCA-US 3 113119414 113119414 single base substitution G T downstream_gene_variant BRCA-US 3 113119414 113119414 single base substitution G T synonymous_variant L484L 1452C>A BRCA-US 3 113119414 113119414 single base substitution G T upstream_gene_variant BRCA-US 3 113122794 113122794 single base substitution G A 3_prime_UTR_variant BRCA-US 3 113122794 113122794 single base substitution G A downstream_gene_variant BRCA-US 3 113122794 113122794 single base substitution G A stop_gained R359* 1075C>T BRCA-US 3 113122794 113122794 single base substitution G A upstream_gene_variant BRCA-US 3 113122819 113122819 single base substitution A C 3_prime_UTR_variant BRCA-US 3 113122819 113122819 single base substitution A C downstream_gene_variant BRCA-US 3 113122819 113122819 single base substitution A C synonymous_variant G350G 1050T>G BRCA-US 3 113122819 113122819 single base substitution A C upstream_gene_variant BRCA-US 3 113138991 113138991 single base substitution T G intron_variant BRCA-US 3 113138991 113138991 single base substitution T G missense_variant N148T 443A>C BRCA-US 3 113146069 113146069 single base substitution C A intron_variant BRCA-US 3 113146069 113146069 single base substitution C A missense_variant S73I 218G>T BRCA-US 3 113152517 113152517 single base substitution C G splice_acceptor_variant BRCA-US 3 113152517 113152517 single base substitution C G upstream_gene_variant BRCA-US 3 113164162 113164162 single base substitution C T upstream_gene_variant BTCA-JP 3 113002308 113002308 single base substitution C T downstream_gene_variant BTCA-JP 3 113003466 113003466 single base substitution G A downstream_gene_variant BTCA-JP 3 113005467 113005467 single base substitution T C downstream_gene_variant BTCA-JP 3 113005753 113005753 single base substitution T A downstream_gene_variant BTCA-JP 3 113005755 113005755 single base substitution A T downstream_gene_variant BTCA-JP 3 113005952 113005952 single base substitution G A 3_prime_UTR_variant BTCA-JP 3 113005952 113005952 single base substitution G A downstream_gene_variant BTCA-JP 3 113049434 113049434 single base substitution A T downstream_gene_variant BTCA-JP 3 113049434 113049434 single base substitution A T missense_variant C1233S 3697T>A BTCA-JP 3 113049434 113049434 single base substitution A T missense_variant C369S 1105T>A BTCA-JP 3 113049434 113049434 single base substitution A T upstream_gene_variant BTCA-JP 3 113049435 113049435 single base substitution C A downstream_gene_variant BTCA-JP 3 113049435 113049435 single base substitution C A missense_variant Q1232H 3696G>T BTCA-JP 3 113049435 113049435 single base substitution C A missense_variant Q368H 1104G>T BTCA-JP 3 113049435 113049435 single base substitution C A upstream_gene_variant BTCA-JP 3 113060577 113060577 deletion of <=200bp A - intron_variant BTCA-JP 3 113077730 113077730 single base substitution T A downstream_gene_variant BTCA-JP 3 113077730 113077730 single base substitution T A splice_region_variant BTCA-JP 3 113120614 113120614 single base substitution A G downstream_gene_variant BTCA-JP 3 113120614 113120614 single base substitution A G intron_variant BTCA-JP 3 113120614 113120614 single base substitution A G upstream_gene_variant BTCA-JP 3 113122741 113122741 single base substitution A G 3_prime_UTR_variant BTCA-JP 3 113122741 113122741 single base substitution A G downstream_gene_variant BTCA-JP 3 113122741 113122741 single base substitution A G synonymous_variant Y376Y 1128T>C BTCA-JP 3 113122741 113122741 single base substitution A G upstream_gene_variant BTCA-JP 3 113128100 113128100 single base substitution C T 3_prime_UTR_variant BTCA-JP 3 113128100 113128100 single base substitution C T intron_variant BTCA-JP 3 113128100 113128100 single base substitution C T missense_variant S248N 743G>A BTCA-JP 3 113164073 113164073 single base substitution G A upstream_gene_variant CESC-US 3 113002407 113002407 single base substitution G A downstream_gene_variant CESC-US 3 113023888 113023888 single base substitution G A exon_variant CESC-US 3 113023888 113023888 single base substitution G A missense_variant H1624Y 4870C>T CESC-US 3 113023888 113023888 single base substitution G A missense_variant H227Y 679C>T CESC-US 3 113023888 113023888 single base substitution G A missense_variant H760Y 2278C>T CESC-US 3 113023888 113023888 single base substitution G A upstream_gene_variant CESC-US 3 113063421 113063421 single base substitution G C intron_variant CESC-US 3 113063421 113063421 single base substitution G C missense_variant S1068R 3204C>G CESC-US 3 113063421 113063421 single base substitution G C missense_variant S204R 612C>G CESC-US 3 113063537 113063537 single base substitution C G intron_variant CESC-US 3 113063537 113063537 single base substitution C G missense_variant D1030H 3088G>C CESC-US 3 113063537 113063537 single base substitution C G missense_variant D166H 496G>C CESC-US 3 113099823 113099823 single base substitution G A 3_prime_UTR_variant CESC-US 3 113099823 113099823 single base substitution G A downstream_gene_variant CESC-US 3 113099823 113099823 single base substitution G A missense_variant H659Y 1975C>T CESC-US 3 113120479 113120479 single base substitution G A 3_prime_UTR_variant CESC-US 3 113120479 113120479 single base substitution G A downstream_gene_variant CESC-US 3 113120479 113120479 single base substitution G A intron_variant CESC-US 3 113120479 113120479 single base substitution G A synonymous_variant F426F 1278C>T CESC-US 3 113120479 113120479 single base substitution G A upstream_gene_variant CLLE-ES 3 113045598 113045598 single base substitution T G intron_variant CLLE-ES 3 113053810 113053810 single base substitution T C intron_variant CLLE-ES 3 113081324 113081324 single base substitution T A downstream_gene_variant CLLE-ES 3 113081324 113081324 single base substitution T A intron_variant CLLE-ES 3 113115095 113115095 single base substitution A T downstream_gene_variant CLLE-ES 3 113115095 113115095 single base substitution A T intron_variant CLLE-ES 3 113118056 113118056 single base substitution G A downstream_gene_variant CLLE-ES 3 113118056 113118056 single base substitution G A intron_variant CLLE-ES 3 113118056 113118056 single base substitution G A upstream_gene_variant COAD-US 3 113003273 113003273 single base substitution G T downstream_gene_variant COAD-US 3 113004367 113004367 single base substitution G A downstream_gene_variant COAD-US 3 113084990 113084990 single base substitution G T intron_variant COAD-US 3 113084990 113084990 single base substitution G T missense_variant R7S 19C>A COAD-US 3 113084990 113084990 single base substitution G T missense_variant R871S 2611C>A COAD-US 3 113084990 113084990 single base substitution G T upstream_gene_variant COAD-US 3 113115487 113115487 single base substitution T A 3_prime_UTR_variant COAD-US 3 113115487 113115487 single base substitution T A downstream_gene_variant COAD-US 3 113115487 113115487 single base substitution T A exon_variant COAD-US 3 113115487 113115487 single base substitution T A missense_variant I553F 1657A>T COAD-US 3 113120560 113120560 single base substitution A G 3_prime_UTR_variant COAD-US 3 113120560 113120560 single base substitution A G downstream_gene_variant COAD-US 3 113120560 113120560 single base substitution A G intron_variant COAD-US 3 113120560 113120560 single base substitution A G synonymous_variant T399T 1197T>C COAD-US 3 113120560 113120560 single base substitution A G upstream_gene_variant COAD-US 3 113128035 113128035 single base substitution C T 3_prime_UTR_variant COAD-US 3 113128035 113128035 single base substitution C T intron_variant COAD-US 3 113128035 113128035 single base substitution C T missense_variant A270T 808G>A COAD-US 3 113135378 113135378 single base substitution G T 3_prime_UTR_variant COAD-US 3 113135378 113135378 single base substitution G T missense_variant L223I 667C>A COAD-US 3 113145006 113145006 single base substitution C T downstream_gene_variant COAD-US 3 113145006 113145006 single base substitution C T exon_variant COAD-US 3 113145006 113145006 single base substitution C T intron_variant COAD-US 3 113145006 113145006 single base substitution C T synonymous_variant L124L 372G>A COAD-US 3 113145069 113145069 single base substitution C A downstream_gene_variant COAD-US 3 113145069 113145069 single base substitution C A exon_variant COAD-US 3 113145069 113145069 single base substitution C A intron_variant COAD-US 3 113145069 113145069 single base substitution C A missense_variant K103N 309G>T COAD-US 3 113146130 113146130 single base substitution T C intron_variant COAD-US 3 113146130 113146130 single base substitution T C missense_variant K53E 157A>G COAD-US 3 113152496 113152496 single base substitution C G exon_variant COAD-US 3 113152496 113152496 single base substitution C G missense_variant D6H 16G>C COAD-US 3 113152496 113152496 single base substitution C G upstream_gene_variant COCA-CN 3 113003369 113003369 single base substitution C T downstream_gene_variant COCA-CN 3 113005754 113005754 single base substitution A T downstream_gene_variant COCA-CN 3 113005755 113005755 single base substitution A T downstream_gene_variant COCA-CN 3 113005756 113005756 single base substitution A T downstream_gene_variant COCA-CN 3 113005952 113005952 single base substitution G A 3_prime_UTR_variant COCA-CN 3 113005952 113005952 single base substitution G A downstream_gene_variant COCA-CN 3 113012840 113012840 single base substitution G A 3_prime_UTR_variant COCA-CN 3 113012840 113012840 single base substitution G A downstream_gene_variant COCA-CN 3 113012840 113012840 single base substitution G A exon_variant COCA-CN 3 113012840 113012840 single base substitution G A intron_variant COCA-CN 3 113015436 113015436 single base substitution G C intron_variant COCA-CN 3 113015436 113015436 single base substitution G C upstream_gene_variant COCA-CN 3 113024149 113024149 single base substitution T C intron_variant COCA-CN 3 113024149 113024149 single base substitution T C upstream_gene_variant COCA-CN 3 113025101 113025101 single base substitution C A exon_variant COCA-CN 3 113025101 113025101 single base substitution C A stop_gained E1569* 4705G>T COCA-CN 3 113025101 113025101 single base substitution C A stop_gained E172* 514G>T COCA-CN 3 113025101 113025101 single base substitution C A stop_gained E705* 2113G>T COCA-CN 3 113025101 113025101 single base substitution C A upstream_gene_variant COCA-CN 3 113027146 113027146 single base substitution G T intron_variant COCA-CN 3 113027146 113027146 single base substitution G T upstream_gene_variant COCA-CN 3 113046517 113046517 single base substitution C A exon_variant COCA-CN 3 113046517 113046517 single base substitution C A missense_variant E1422D 4266G>T COCA-CN 3 113046517 113046517 single base substitution C A missense_variant E25D 75G>T COCA-CN 3 113046517 113046517 single base substitution C A missense_variant E558D 1674G>T COCA-CN 3 113084833 113084833 single base substitution C T intron_variant COCA-CN 3 113084833 113084833 single base substitution C T upstream_gene_variant COCA-CN 3 113098096 113098096 single base substitution T C downstream_gene_variant COCA-CN 3 113098096 113098096 single base substitution T C intron_variant COCA-CN 3 113119301 113119301 single base substitution C T downstream_gene_variant COCA-CN 3 113119301 113119301 single base substitution C T intron_variant COCA-CN 3 113119301 113119301 single base substitution C T upstream_gene_variant COCA-CN 3 113135443 113135443 single base substitution G T 3_prime_UTR_variant COCA-CN 3 113135443 113135443 single base substitution G T missense_variant A201D 602C>A COCA-CN 3 113135513 113135513 single base substitution G T intron_variant COCA-CN 3 113135543 113135543 single base substitution G A intron_variant EOPC-DE 3 113015553 113015553 single base substitution A C intron_variant EOPC-DE 3 113015553 113015553 single base substitution A C upstream_gene_variant ESAD-UK 3 113001873 113001873 single base substitution G A downstream_gene_variant ESAD-UK 3 113002513 113002513 single base substitution G A downstream_gene_variant ESAD-UK 3 113003209 113003209 single base substitution G A downstream_gene_variant ESAD-UK 3 113005306 113005306 single base substitution C T downstream_gene_variant ESAD-UK 3 113005755 113005755 single base substitution A T downstream_gene_variant ESAD-UK 3 113007253 113007253 single base substitution G T 3_prime_UTR_variant ESAD-UK 3 113007253 113007253 single base substitution G T downstream_gene_variant ESAD-UK 3 113010401 113010401 single base substitution A G 3_prime_UTR_variant ESAD-UK 3 113010401 113010401 single base substitution A G downstream_gene_variant ESAD-UK 3 113010401 113010401 single base substitution A G exon_variant ESAD-UK 3 113011779 113011779 single base substitution A T downstream_gene_variant ESAD-UK 3 113011779 113011779 single base substitution A T intron_variant ESAD-UK 3 113012108 113012108 single base substitution G C downstream_gene_variant ESAD-UK 3 113012108 113012108 single base substitution G C intron_variant ESAD-UK 3 113013815 113013815 single base substitution A T intron_variant ESAD-UK 3 113013815 113013815 single base substitution A T upstream_gene_variant ESAD-UK 3 113015246 113015246 single base substitution T A intron_variant ESAD-UK 3 113015246 113015246 single base substitution T A upstream_gene_variant ESAD-UK 3 113018703 113018703 single base substitution C T intron_variant ESAD-UK 3 113018892 113018892 single base substitution C A intron_variant ESAD-UK 3 113020546 113020546 single base substitution A G intron_variant ESAD-UK 3 113026720 113026720 single base substitution G A intron_variant ESAD-UK 3 113026720 113026720 single base substitution G A upstream_gene_variant ESAD-UK 3 113027476 113027476 single base substitution T A intron_variant ESAD-UK 3 113027476 113027476 single base substitution T A upstream_gene_variant ESAD-UK 3 113029611 113029611 single base substitution T A intron_variant ESAD-UK 3 113029853 113029853 single base substitution G T intron_variant ESAD-UK 3 113033153 113033153 single base substitution G T intron_variant ESAD-UK 3 113034290 113034290 single base substitution T C intron_variant ESAD-UK 3 113034457 113034457 single base substitution C T intron_variant ESAD-UK 3 113036500 113036500 single base substitution C G intron_variant ESAD-UK 3 113037028 113037028 single base substitution C T intron_variant ESAD-UK 3 113037588 113037588 single base substitution T G intron_variant ESAD-UK 3 113041246 113041246 single base substitution C A intron_variant ESAD-UK 3 113043423 113043423 single base substitution T A intron_variant ESAD-UK 3 113043497 113043497 single base substitution A T intron_variant ESAD-UK 3 113043640 113043640 single base substitution G A intron_variant ESAD-UK 3 113050962 113050962 single base substitution T C downstream_gene_variant ESAD-UK 3 113050962 113050962 single base substitution T C intron_variant ESAD-UK 3 113050962 113050962 single base substitution T C upstream_gene_variant ESAD-UK 3 113051227 113051227 single base substitution G T downstream_gene_variant ESAD-UK 3 113051227 113051227 single base substitution G T intron_variant ESAD-UK 3 113051227 113051227 single base substitution G T upstream_gene_variant ESAD-UK 3 113053473 113053473 single base substitution G T intron_variant ESAD-UK 3 113055695 113055695 single base substitution G C intron_variant ESAD-UK 3 113056278 113056278 single base substitution T C intron_variant ESAD-UK 3 113058837 113058837 single base substitution G A intron_variant ESAD-UK 3 113059686 113059686 single base substitution G A intron_variant ESAD-UK 3 113059944 113059944 single base substitution T A intron_variant ESAD-UK 3 113060152 113060152 single base substitution G A intron_variant ESAD-UK 3 113060549 113060549 single base substitution C T intron_variant ESAD-UK 3 113064676 113064676 single base substitution T C intron_variant ESAD-UK 3 113066891 113066891 single base substitution G T intron_variant ESAD-UK 3 113067767 113067767 single base substitution T A intron_variant ESAD-UK 3 113069375 113069375 single base substitution T G intron_variant ESAD-UK 3 113070832 113070832 single base substitution T C intron_variant ESAD-UK 3 113071644 113071644 single base substitution G T intron_variant ESAD-UK 3 113074982 113074982 single base substitution A C intron_variant ESAD-UK 3 113075103 113075103 single base substitution A C intron_variant ESAD-UK 3 113078497 113078497 deletion of <=200bp T - downstream_gene_variant ESAD-UK 3 113078497 113078497 deletion of <=200bp T - intron_variant ESAD-UK 3 113078562 113078562 single base substitution A C downstream_gene_variant ESAD-UK 3 113078562 113078562 single base substitution A C intron_variant ESAD-UK 3 113079434 113079434 single base substitution C T downstream_gene_variant ESAD-UK 3 113079434 113079434 single base substitution C T intron_variant ESAD-UK 3 113080552 113080552 single base substitution A T downstream_gene_variant ESAD-UK 3 113080552 113080552 single base substitution A T intron_variant ESAD-UK 3 113082084 113082084 single base substitution T C 3_prime_UTR_variant ESAD-UK 3 113082084 113082084 single base substitution T C exon_variant ESAD-UK 3 113082084 113082084 single base substitution T C missense_variant K84E 250A>G ESAD-UK 3 113082084 113082084 single base substitution T C missense_variant K948E 2842A>G ESAD-UK 3 113082995 113082995 single base substitution A G intron_variant ESAD-UK 3 113082995 113082995 single base substitution A G upstream_gene_variant ESAD-UK 3 113083747 113083747 single base substitution G T intron_variant ESAD-UK 3 113083747 113083747 single base substitution G T upstream_gene_variant ESAD-UK 3 113085862 113085862 single base substitution T G intron_variant ESAD-UK 3 113085862 113085862 single base substitution T G upstream_gene_variant ESAD-UK 3 113088527 113088527 single base substitution A C intron_variant ESAD-UK 3 113088527 113088527 single base substitution A C upstream_gene_variant ESAD-UK 3 113089346 113089346 single base substitution A T intron_variant ESAD-UK 3 113089346 113089346 single base substitution A T upstream_gene_variant ESAD-UK 3 113090059 113090059 single base substitution C T intron_variant ESAD-UK 3 113091354 113091354 single base substitution C G intron_variant ESAD-UK 3 113092231 113092231 single base substitution T C intron_variant ESAD-UK 3 113092284 113092284 single base substitution G A intron_variant ESAD-UK 3 113092284 113092284 single base substitution G A synonymous_variant D806D 2418C>T ESAD-UK 3 113093053 113093053 single base substitution G T intron_variant ESAD-UK 3 113093251 113093251 insertion of <=200bp - TTAG intron_variant ESAD-UK 3 113096365 113096365 deletion of <=200bp A - downstream_gene_variant ESAD-UK 3 113096365 113096365 deletion of <=200bp A - intron_variant ESAD-UK 3 113098225 113098225 single base substitution T C 3_prime_UTR_variant ESAD-UK 3 113098225 113098225 single base substitution T C downstream_gene_variant ESAD-UK 3 113098225 113098225 single base substitution T C missense_variant I742M 2226A>G ESAD-UK 3 113098815 113098815 single base substitution G A downstream_gene_variant ESAD-UK 3 113098815 113098815 single base substitution G A intron_variant ESAD-UK 3 113098879 113098879 single base substitution T A downstream_gene_variant ESAD-UK 3 113098879 113098879 single base substitution T A intron_variant ESAD-UK 3 113099490 113099490 single base substitution G C downstream_gene_variant ESAD-UK 3 113099490 113099490 single base substitution G C intron_variant ESAD-UK 3 113100617 113100617 single base substitution T C intron_variant ESAD-UK 3 113101592 113101592 single base substitution C T intron_variant ESAD-UK 3 113104928 113104928 single base substitution G A intron_variant ESAD-UK 3 113110664 113110664 single base substitution G A intron_variant ESAD-UK 3 113113652 113113652 single base substitution G A intron_variant ESAD-UK 3 113115884 113115884 single base substitution A G downstream_gene_variant ESAD-UK 3 113115884 113115884 single base substitution A G intron_variant ESAD-UK 3 113117955 113117955 single base substitution A G downstream_gene_variant ESAD-UK 3 113117955 113117955 single base substitution A G intron_variant ESAD-UK 3 113117955 113117955 single base substitution A G upstream_gene_variant ESAD-UK 3 113118201 113118201 single base substitution T G downstream_gene_variant ESAD-UK 3 113118201 113118201 single base substitution T G intron_variant ESAD-UK 3 113118201 113118201 single base substitution T G upstream_gene_variant ESAD-UK 3 113119452 113119452 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 113119452 113119452 single base substitution C T downstream_gene_variant ESAD-UK 3 113119452 113119452 single base substitution C T missense_variant A472T 1414G>A ESAD-UK 3 113119452 113119452 single base substitution C T upstream_gene_variant ESAD-UK 3 113124460 113124460 single base substitution C G intron_variant ESAD-UK 3 113124460 113124460 single base substitution C G upstream_gene_variant ESAD-UK 3 113128345 113128345 single base substitution A C intron_variant ESAD-UK 3 113128464 113128464 single base substitution A T intron_variant ESAD-UK 3 113128840 113128840 single base substitution C G intron_variant ESAD-UK 3 113131562 113131562 single base substitution A G intron_variant ESAD-UK 3 113131848 113131848 single base substitution G A intron_variant ESAD-UK 3 113132091 113132091 single base substitution A G intron_variant ESAD-UK 3 113133669 113133669 deletion of <=200bp T - intron_variant ESAD-UK 3 113133843 113133843 deletion of <=200bp T - intron_variant ESAD-UK 3 113134045 113134045 single base substitution C T intron_variant ESAD-UK 3 113135304 113135304 single base substitution A G intron_variant ESAD-UK 3 113136559 113136559 single base substitution G A intron_variant ESAD-UK 3 113137048 113137048 single base substitution C T intron_variant ESAD-UK 3 113138445 113138445 single base substitution C G intron_variant ESAD-UK 3 113139764 113139764 single base substitution G A intron_variant ESAD-UK 3 113142689 113142689 single base substitution C T downstream_gene_variant ESAD-UK 3 113142689 113142689 single base substitution C T intron_variant ESAD-UK 3 113143174 113143174 single base substitution T G downstream_gene_variant ESAD-UK 3 113143174 113143174 single base substitution T G intron_variant ESAD-UK 3 113149918 113149918 single base substitution T G intron_variant ESAD-UK 3 113151516 113151516 insertion of <=200bp - A intron_variant ESAD-UK 3 113152812 113152812 single base substitution C A intron_variant ESAD-UK 3 113152812 113152812 single base substitution C A upstream_gene_variant ESAD-UK 3 113153973 113153973 single base substitution G T intron_variant ESAD-UK 3 113153973 113153973 single base substitution G T upstream_gene_variant ESAD-UK 3 113155094 113155094 single base substitution T A intron_variant ESAD-UK 3 113155094 113155094 single base substitution T A upstream_gene_variant ESAD-UK 3 113156739 113156739 single base substitution C T intron_variant ESAD-UK 3 113156739 113156739 single base substitution C T upstream_gene_variant ESAD-UK 3 113157677 113157677 single base substitution T G intron_variant ESAD-UK 3 113157677 113157677 single base substitution T G upstream_gene_variant ESAD-UK 3 113160039 113160039 single base substitution C A intron_variant ESCA-CN 3 113013576 113013576 single base substitution C G 3_prime_UTR_variant ESCA-CN 3 113013576 113013576 single base substitution C G downstream_gene_variant ESCA-CN 3 113013576 113013576 single base substitution C G exon_variant ESCA-CN 3 113013576 113013576 single base substitution C G missense_variant K1777N 5331G>C ESCA-CN 3 113013576 113013576 single base substitution C G missense_variant K380N 1140G>C ESCA-CN 3 113013576 113013576 single base substitution C G missense_variant K913N 2739G>C ESCA-CN 3 113013576 113013576 single base substitution C G upstream_gene_variant ESCA-CN 3 113025119 113025119 single base substitution C G exon_variant ESCA-CN 3 113025119 113025119 single base substitution C G missense_variant E1563Q 4687G>C ESCA-CN 3 113025119 113025119 single base substitution C G missense_variant E166Q 496G>C ESCA-CN 3 113025119 113025119 single base substitution C G missense_variant E699Q 2095G>C ESCA-CN 3 113025119 113025119 single base substitution C G upstream_gene_variant ESCA-CN 3 113092295 113092295 single base substitution C A intron_variant ESCA-CN 3 113092295 113092295 single base substitution C A missense_variant D803Y 2407G>T KIRC-US 3 113002344 113002344 single base substitution C T downstream_gene_variant KIRC-US 3 113022837 113022837 single base substitution T G exon_variant KIRC-US 3 113022837 113022837 single base substitution T G missense_variant K1668T 5003A>C KIRC-US 3 113022837 113022837 single base substitution T G missense_variant K271T 812A>C KIRC-US 3 113022837 113022837 single base substitution T G missense_variant K804T 2411A>C KIRC-US 3 113049451 113049451 single base substitution A C downstream_gene_variant KIRC-US 3 113049451 113049451 single base substitution A C missense_variant V1227G 3680T>G KIRC-US 3 113049451 113049451 single base substitution A C missense_variant V363G 1088T>G KIRC-US 3 113049451 113049451 single base substitution A C upstream_gene_variant KIRC-US 3 113098217 113098217 single base substitution G A 3_prime_UTR_variant KIRC-US 3 113098217 113098217 single base substitution G A downstream_gene_variant KIRC-US 3 113098217 113098217 single base substitution G A missense_variant P745L 2234C>T KIRC-US 3 113127995 113127995 single base substitution T G 3_prime_UTR_variant KIRC-US 3 113127995 113127995 single base substitution T G intron_variant KIRC-US 3 113127995 113127995 single base substitution T G missense_variant D283A 848A>C KIRC-US 3 113128137 113128137 single base substitution A G 3_prime_UTR_variant KIRC-US 3 113128137 113128137 single base substitution A G intron_variant KIRC-US 3 113128137 113128137 single base substitution A G missense_variant F236L 706T>C KIRP-US 3 113120585 113120585 single base substitution A C downstream_gene_variant KIRP-US 3 113120585 113120585 single base substitution A C intron_variant KIRP-US 3 113120585 113120585 single base substitution A C missense_variant I391R 1172T>G KIRP-US 3 113120585 113120585 single base substitution A C splice_region_variant KIRP-US 3 113120585 113120585 single base substitution A C upstream_gene_variant LAML-CN 3 113118851 113118851 single base substitution T C downstream_gene_variant LAML-CN 3 113118851 113118851 single base substitution T C intron_variant LAML-CN 3 113118851 113118851 single base substitution T C splice_region_variant LAML-CN 3 113118851 113118851 single base substitution T C upstream_gene_variant LAML-KR 3 113003262 113003262 single base substitution C T downstream_gene_variant LAML-KR 3 113004155 113004155 single base substitution G A downstream_gene_variant LAML-KR 3 113004240 113004240 single base substitution C T downstream_gene_variant LAML-KR 3 113024018 113024018 single base substitution T C intron_variant LAML-KR 3 113024018 113024018 single base substitution T C upstream_gene_variant LAML-KR 3 113045591 113045591 single base substitution T C intron_variant LAML-KR 3 113046607 113046607 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant LAML-KR 3 113046607 113046607 single base substitution T C exon_variant LAML-KR 3 113046607 113046607 single base substitution T C synonymous_variant L1392L 4176A>G LAML-KR 3 113046607 113046607 single base substitution T C synonymous_variant L528L 1584A>G LAML-KR 3 113048976 113048976 single base substitution T C downstream_gene_variant LAML-KR 3 113048976 113048976 single base substitution T C intron_variant LAML-KR 3 113048976 113048976 single base substitution T C upstream_gene_variant LAML-KR 3 113049270 113049270 single base substitution T G downstream_gene_variant LAML-KR 3 113049270 113049270 single base substitution T G missense_variant K1287N 3861A>C LAML-KR 3 113049270 113049270 single base substitution T G missense_variant K423N 1269A>C LAML-KR 3 113049270 113049270 single base substitution T G upstream_gene_variant LAML-KR 3 113052215 113052215 single base substitution G T downstream_gene_variant LAML-KR 3 113052215 113052215 single base substitution G T intron_variant LAML-KR 3 113052457 113052457 single base substitution A C intron_variant LAML-KR 3 113098217 113098217 single base substitution G A 3_prime_UTR_variant LAML-KR 3 113098217 113098217 single base substitution G A downstream_gene_variant LAML-KR 3 113098217 113098217 single base substitution G A missense_variant P745L 2234C>T LAML-KR 3 113122580 113122580 single base substitution T G downstream_gene_variant LAML-KR 3 113122580 113122580 single base substitution T G intron_variant LAML-KR 3 113127991 113127991 single base substitution C A 3_prime_UTR_variant LAML-KR 3 113127991 113127991 single base substitution C A intron_variant LAML-KR 3 113127991 113127991 single base substitution C A missense_variant K284N 852G>T LAML-KR 3 113146131 113146131 single base substitution G A intron_variant LAML-KR 3 113146131 113146131 single base substitution G A synonymous_variant T52T 156C>T LAML-KR 3 113149276 113149276 single base substitution G A intron_variant LGG-US 3 113098287 113098287 single base substitution A G 3_prime_UTR_variant LGG-US 3 113098287 113098287 single base substitution A G downstream_gene_variant LGG-US 3 113098287 113098287 single base substitution A G missense_variant F722L 2164T>C LICA-CN 3 113003397 113003397 single base substitution C T downstream_gene_variant LICA-CN 3 113092368 113092368 single base substitution C A intron_variant LICA-CN 3 113092368 113092368 single base substitution C A missense_variant E778D 2334G>T LICA-FR 3 113016010 113016010 single base substitution C T intron_variant LICA-FR 3 113016010 113016010 single base substitution C T upstream_gene_variant LICA-FR 3 113035731 113035731 single base substitution G A intron_variant LICA-FR 3 113035732 113035732 single base substitution C A intron_variant LICA-FR 3 113041518 113041518 single base substitution T C intron_variant LICA-FR 3 113053988 113053988 single base substitution G T intron_variant LICA-FR 3 113056996 113056996 single base substitution T A intron_variant LICA-FR 3 113057797 113057797 single base substitution C T intron_variant LICA-FR 3 113074210 113074210 single base substitution A G intron_variant LICA-FR 3 113075433 113075433 single base substitution T A intron_variant LICA-FR 3 113077653 113077653 deletion of <=200bp C - downstream_gene_variant LICA-FR 3 113077653 113077653 deletion of <=200bp C - exon_variant LICA-FR 3 113077653 113077653 deletion of <=200bp C - frameshift_variant E1002 LICA-FR 3 113077653 113077653 deletion of <=200bp C - frameshift_variant E138 LICA-FR 3 113078082 113078082 single base substitution C A downstream_gene_variant LICA-FR 3 113078082 113078082 single base substitution C A intron_variant LICA-FR 3 113082017 113082017 single base substitution G C 3_prime_UTR_variant LICA-FR 3 113082017 113082017 single base substitution G C exon_variant LICA-FR 3 113082017 113082017 single base substitution G C missense_variant P106R 317C>G LICA-FR 3 113082017 113082017 single base substitution G C missense_variant P970R 2909C>G LICA-FR 3 113087397 113087397 single base substitution T C intron_variant LICA-FR 3 113087397 113087397 single base substitution T C upstream_gene_variant LICA-FR 3 113102549 113102549 single base substitution T A intron_variant LICA-FR 3 113103065 113103065 single base substitution C T intron_variant LICA-FR 3 113145824 113145844 deletion of <=200bp TCAGAGTACTCTATGTGATCC - downstream_gene_variant LICA-FR 3 113145824 113145844 deletion of <=200bp TCAGAGTACTCTATGTGATCC - intron_variant LICA-FR 3 113149528 113149528 single base substitution A G intron_variant LICA-FR 3 113155317 113155317 single base substitution A G intron_variant LICA-FR 3 113155317 113155317 single base substitution A G upstream_gene_variant LICA-FR 3 113160070 113160070 single base substitution C T intron_variant LICA-FR 3 113162542 113162542 single base substitution G C upstream_gene_variant LIHC-US 3 113004363 113004363 single base substitution C T downstream_gene_variant LIHC-US 3 113005642 113005642 single base substitution C A downstream_gene_variant LIHC-US 3 113092276 113092276 single base substitution A G intron_variant LIHC-US 3 113092276 113092276 single base substitution A G missense_variant I809T 2426T>C LIHC-US 3 113092280 113092280 single base substitution G A intron_variant LIHC-US 3 113092280 113092280 single base substitution G A missense_variant P808S 2422C>T LIHC-US 3 113152468 113152468 single base substitution A G exon_variant LIHC-US 3 113152468 113152468 single base substitution A G missense_variant V15A 44T>C LIHC-US 3 113152468 113152468 single base substitution A G upstream_gene_variant LINC-JP 3 113003490 113003490 single base substitution C T downstream_gene_variant LINC-JP 3 113004591 113004591 single base substitution C A downstream_gene_variant LINC-JP 3 113005755 113005755 single base substitution A T downstream_gene_variant LINC-JP 3 113019888 113019888 single base substitution C T intron_variant LINC-JP 3 113022811 113022811 single base substitution G A exon_variant LINC-JP 3 113022811 113022811 single base substitution G A missense_variant R1677C 5029C>T LINC-JP 3 113022811 113022811 single base substitution G A missense_variant R280C 838C>T LINC-JP 3 113022811 113022811 single base substitution G A missense_variant R813C 2437C>T LINC-JP 3 113025170 113025170 single base substitution C T exon_variant LINC-JP 3 113025170 113025170 single base substitution C T missense_variant V149M 445G>A LINC-JP 3 113025170 113025170 single base substitution C T missense_variant V1546M 4636G>A LINC-JP 3 113025170 113025170 single base substitution C T missense_variant V682M 2044G>A LINC-JP 3 113025170 113025170 single base substitution C T upstream_gene_variant LINC-JP 3 113027011 113027011 single base substitution G T exon_variant LINC-JP 3 113027011 113027011 single base substitution G T missense_variant P144T 430C>A LINC-JP 3 113027011 113027011 single base substitution G T missense_variant P1541T 4621C>A LINC-JP 3 113027011 113027011 single base substitution G T missense_variant P677T 2029C>A LINC-JP 3 113027011 113027011 single base substitution G T upstream_gene_variant LINC-JP 3 113030385 113030385 single base substitution T C intron_variant LINC-JP 3 113034210 113034210 single base substitution A C intron_variant LINC-JP 3 113042276 113042276 single base substitution C T intron_variant LINC-JP 3 113049258 113049258 single base substitution G A downstream_gene_variant LINC-JP 3 113049258 113049258 single base substitution G A synonymous_variant S1291S 3873C>T LINC-JP 3 113049258 113049258 single base substitution G A synonymous_variant S427S 1281C>T LINC-JP 3 113049258 113049258 single base substitution G A upstream_gene_variant LINC-JP 3 113052335 113052335 single base substitution G T 3_prime_UTR_variant LINC-JP 3 113052335 113052335 single base substitution G T missense_variant T1178K 3533C>A LINC-JP 3 113052335 113052335 single base substitution G T missense_variant T314K 941C>A LINC-JP 3 113053058 113053058 single base substitution A C intron_variant LINC-JP 3 113061699 113061699 single base substitution T C intron_variant LINC-JP 3 113063561 113063561 single base substitution T C intron_variant LINC-JP 3 113063561 113063561 single base substitution T C splice_acceptor_variant LINC-JP 3 113063715 113063715 single base substitution T C intron_variant LINC-JP 3 113067701 113067701 single base substitution C G intron_variant LINC-JP 3 113074558 113074558 single base substitution T A intron_variant LINC-JP 3 113075795 113075795 single base substitution G A intron_variant LINC-JP 3 113078728 113078728 single base substitution C A downstream_gene_variant LINC-JP 3 113078728 113078728 single base substitution C A intron_variant LINC-JP 3 113078765 113078765 single base substitution T G downstream_gene_variant LINC-JP 3 113078765 113078765 single base substitution T G intron_variant LINC-JP 3 113087222 113087222 single base substitution G C intron_variant LINC-JP 3 113087222 113087222 single base substitution G C upstream_gene_variant LINC-JP 3 113120201 113120201 single base substitution T C downstream_gene_variant LINC-JP 3 113120201 113120201 single base substitution T C intron_variant LINC-JP 3 113120201 113120201 single base substitution T C upstream_gene_variant LINC-JP 3 113120567 113120567 single base substitution A T 3_prime_UTR_variant LINC-JP 3 113120567 113120567 single base substitution A T downstream_gene_variant LINC-JP 3 113120567 113120567 single base substitution A T intron_variant LINC-JP 3 113120567 113120567 single base substitution A T missense_variant I397K 1190T>A LINC-JP 3 113120567 113120567 single base substitution A T upstream_gene_variant LINC-JP 3 113121952 113121952 single base substitution A G downstream_gene_variant LINC-JP 3 113121952 113121952 single base substitution A G intron_variant LINC-JP 3 113121953 113121953 single base substitution G A downstream_gene_variant LINC-JP 3 113121953 113121953 single base substitution G A intron_variant LINC-JP 3 113139179 113139179 single base substitution T C intron_variant LINC-JP 3 113152392 113152392 single base substitution T C intron_variant LIRI-JP 3 113000956 113000956 single base substitution C T downstream_gene_variant LIRI-JP 3 113002068 113002068 single base substitution C A downstream_gene_variant LIRI-JP 3 113002306 113002306 single base substitution C T downstream_gene_variant LIRI-JP 3 113003150 113003150 single base substitution C T downstream_gene_variant LIRI-JP 3 113004812 113004812 single base substitution T C downstream_gene_variant LIRI-JP 3 113005378 113005378 single base substitution C T downstream_gene_variant LIRI-JP 3 113005530 113005530 single base substitution T G downstream_gene_variant LIRI-JP 3 113006859 113006859 single base substitution T A 3_prime_UTR_variant LIRI-JP 3 113006859 113006859 single base substitution T A downstream_gene_variant LIRI-JP 3 113009744 113009744 single base substitution A C 3_prime_UTR_variant LIRI-JP 3 113009744 113009744 single base substitution A C downstream_gene_variant LIRI-JP 3 113010837 113010837 single base substitution T C downstream_gene_variant LIRI-JP 3 113010837 113010837 single base substitution T C intron_variant LIRI-JP 3 113012480 113012480 single base substitution T G downstream_gene_variant LIRI-JP 3 113012480 113012480 single base substitution T G intron_variant LIRI-JP 3 113014671 113014671 single base substitution A G intron_variant LIRI-JP 3 113014671 113014671 single base substitution A G upstream_gene_variant LIRI-JP 3 113015127 113015127 single base substitution A G intron_variant LIRI-JP 3 113015127 113015127 single base substitution A G upstream_gene_variant LIRI-JP 3 113016596 113016596 single base substitution C T intron_variant LIRI-JP 3 113016596 113016596 single base substitution C T upstream_gene_variant LIRI-JP 3 113017480 113017480 single base substitution T C intron_variant LIRI-JP 3 113017480 113017480 single base substitution T C upstream_gene_variant LIRI-JP 3 113020341 113020341 single base substitution T C intron_variant LIRI-JP 3 113020981 113020981 single base substitution T G intron_variant LIRI-JP 3 113023276 113023276 single base substitution G C intron_variant LIRI-JP 3 113023276 113023276 single base substitution G C upstream_gene_variant LIRI-JP 3 113023430 113023430 single base substitution C A intron_variant LIRI-JP 3 113023430 113023430 single base substitution C A upstream_gene_variant LIRI-JP 3 113026966 113026966 single base substitution T A intron_variant LIRI-JP 3 113026966 113026966 single base substitution T A upstream_gene_variant LIRI-JP 3 113027164 113027164 single base substitution T C intron_variant LIRI-JP 3 113027164 113027164 single base substitution T C upstream_gene_variant LIRI-JP 3 113027861 113027861 single base substitution T C intron_variant LIRI-JP 3 113027861 113027861 single base substitution T C upstream_gene_variant LIRI-JP 3 113031309 113031309 single base substitution A G intron_variant LIRI-JP 3 113032419 113032419 single base substitution T C intron_variant LIRI-JP 3 113034727 113034727 single base substitution A C intron_variant LIRI-JP 3 113035525 113035525 single base substitution G A intron_variant LIRI-JP 3 113042293 113042293 single base substitution C A intron_variant LIRI-JP 3 113044929 113044929 single base substitution A G intron_variant LIRI-JP 3 113045002 113045002 single base substitution G T intron_variant LIRI-JP 3 113046434 113046434 single base substitution C G intron_variant LIRI-JP 3 113046739 113046739 single base substitution T C intron_variant LIRI-JP 3 113046739 113046739 single base substitution T C upstream_gene_variant LIRI-JP 3 113048308 113048308 single base substitution G A downstream_gene_variant LIRI-JP 3 113048308 113048308 single base substitution G A intron_variant LIRI-JP 3 113048308 113048308 single base substitution G A upstream_gene_variant LIRI-JP 3 113048482 113048482 single base substitution C A downstream_gene_variant LIRI-JP 3 113048482 113048482 single base substitution C A intron_variant LIRI-JP 3 113048482 113048482 single base substitution C A upstream_gene_variant LIRI-JP 3 113049605 113049605 single base substitution G C downstream_gene_variant LIRI-JP 3 113049605 113049605 single base substitution G C intron_variant LIRI-JP 3 113049605 113049605 single base substitution G C upstream_gene_variant LIRI-JP 3 113049795 113049795 single base substitution C A downstream_gene_variant LIRI-JP 3 113049795 113049795 single base substitution C A intron_variant LIRI-JP 3 113049795 113049795 single base substitution C A upstream_gene_variant LIRI-JP 3 113049796 113049796 single base substitution C A downstream_gene_variant LIRI-JP 3 113049796 113049796 single base substitution C A intron_variant LIRI-JP 3 113049796 113049796 single base substitution C A upstream_gene_variant LIRI-JP 3 113050921 113050921 single base substitution T C downstream_gene_variant LIRI-JP 3 113050921 113050921 single base substitution T C intron_variant LIRI-JP 3 113050921 113050921 single base substitution T C upstream_gene_variant LIRI-JP 3 113051475 113051475 single base substitution C T downstream_gene_variant LIRI-JP 3 113051475 113051475 single base substitution C T intron_variant LIRI-JP 3 113051475 113051475 single base substitution C T upstream_gene_variant LIRI-JP 3 113052972 113052972 single base substitution T C intron_variant LIRI-JP 3 113054959 113054959 single base substitution A G intron_variant LIRI-JP 3 113055193 113055193 single base substitution T C intron_variant LIRI-JP 3 113056087 113056087 single base substitution A C intron_variant LIRI-JP 3 113056921 113056921 single base substitution C T intron_variant LIRI-JP 3 113057187 113057187 single base substitution T A intron_variant LIRI-JP 3 113060662 113060662 single base substitution C T 3_prime_UTR_variant LIRI-JP 3 113060662 113060662 single base substitution C T synonymous_variant T1122T 3366G>A LIRI-JP 3 113060662 113060662 single base substitution C T synonymous_variant T258T 774G>A LIRI-JP 3 113063770 113063770 single base substitution C T intron_variant LIRI-JP 3 113066027 113066027 single base substitution C T intron_variant LIRI-JP 3 113067245 113067245 single base substitution G A intron_variant LIRI-JP 3 113067963 113067963 single base substitution T C intron_variant LIRI-JP 3 113070772 113070772 single base substitution G C intron_variant LIRI-JP 3 113070945 113070945 single base substitution G A intron_variant LIRI-JP 3 113071121 113071121 single base substitution G A intron_variant LIRI-JP 3 113077210 113077210 single base substitution T C downstream_gene_variant LIRI-JP 3 113077210 113077210 single base substitution T C intron_variant LIRI-JP 3 113079425 113079425 single base substitution T A downstream_gene_variant LIRI-JP 3 113079425 113079425 single base substitution T A intron_variant LIRI-JP 3 113085243 113085243 single base substitution T C intron_variant LIRI-JP 3 113085243 113085243 single base substitution T C upstream_gene_variant LIRI-JP 3 113087442 113087442 single base substitution A G intron_variant LIRI-JP 3 113087442 113087442 single base substitution A G upstream_gene_variant LIRI-JP 3 113087655 113087655 single base substitution A G intron_variant LIRI-JP 3 113087655 113087655 single base substitution A G upstream_gene_variant LIRI-JP 3 113088676 113088676 single base substitution C T intron_variant LIRI-JP 3 113088676 113088676 single base substitution C T upstream_gene_variant LIRI-JP 3 113088691 113088691 single base substitution T C intron_variant LIRI-JP 3 113088691 113088691 single base substitution T C upstream_gene_variant LIRI-JP 3 113091098 113091098 single base substitution A G intron_variant LIRI-JP 3 113091112 113091112 single base substitution A T intron_variant LIRI-JP 3 113092737 113092737 single base substitution G A intron_variant LIRI-JP 3 113096306 113096306 single base substitution A G downstream_gene_variant LIRI-JP 3 113096306 113096306 single base substitution A G intron_variant LIRI-JP 3 113096597 113096597 single base substitution T G downstream_gene_variant LIRI-JP 3 113096597 113096597 single base substitution T G intron_variant LIRI-JP 3 113097150 113097150 single base substitution T A downstream_gene_variant LIRI-JP 3 113097150 113097150 single base substitution T A intron_variant LIRI-JP 3 113097174 113097174 single base substitution T A downstream_gene_variant LIRI-JP 3 113097174 113097174 single base substitution T A intron_variant LIRI-JP 3 113099305 113099305 single base substitution T A downstream_gene_variant LIRI-JP 3 113099305 113099305 single base substitution T A intron_variant LIRI-JP 3 113099644 113099644 single base substitution T C downstream_gene_variant LIRI-JP 3 113099644 113099644 single base substitution T C intron_variant LIRI-JP 3 113101293 113101293 single base substitution A C intron_variant LIRI-JP 3 113101552 113101552 single base substitution A C intron_variant LIRI-JP 3 113103019 113103019 single base substitution C T intron_variant LIRI-JP 3 113104428 113104428 single base substitution T C intron_variant LIRI-JP 3 113108192 113108192 single base substitution T C intron_variant LIRI-JP 3 113108740 113108740 single base substitution A T intron_variant LIRI-JP 3 113109374 113109374 single base substitution T C intron_variant LIRI-JP 3 113111887 113111887 single base substitution C A intron_variant LIRI-JP 3 113112980 113112980 single base substitution T C intron_variant LIRI-JP 3 113113751 113113751 single base substitution T C intron_variant LIRI-JP 3 113114559 113114559 single base substitution T C downstream_gene_variant LIRI-JP 3 113114559 113114559 single base substitution T C intron_variant LIRI-JP 3 113115312 113115312 single base substitution G A downstream_gene_variant LIRI-JP 3 113115312 113115312 single base substitution G A intron_variant LIRI-JP 3 113115333 113115333 single base substitution C A downstream_gene_variant LIRI-JP 3 113115333 113115333 single base substitution C A intron_variant LIRI-JP 3 113116398 113116398 single base substitution T C downstream_gene_variant LIRI-JP 3 113116398 113116398 single base substitution T C intron_variant LIRI-JP 3 113116398 113116398 single base substitution T C upstream_gene_variant LIRI-JP 3 113118096 113118096 single base substitution T C downstream_gene_variant LIRI-JP 3 113118096 113118096 single base substitution T C intron_variant LIRI-JP 3 113118096 113118096 single base substitution T C upstream_gene_variant LIRI-JP 3 113119023 113119023 single base substitution T C downstream_gene_variant LIRI-JP 3 113119023 113119023 single base substitution T C intron_variant LIRI-JP 3 113119023 113119023 single base substitution T C upstream_gene_variant LIRI-JP 3 113119953 113119953 single base substitution A G downstream_gene_variant LIRI-JP 3 113119953 113119953 single base substitution A G intron_variant LIRI-JP 3 113119953 113119953 single base substitution A G upstream_gene_variant LIRI-JP 3 113122048 113122048 single base substitution A G downstream_gene_variant LIRI-JP 3 113122048 113122048 single base substitution A G intron_variant LIRI-JP 3 113126360 113126371 deletion of <=200bp TTTTCCAAAGAA - intron_variant LIRI-JP 3 113126360 113126371 deletion of <=200bp TTTTCCAAAGAA - upstream_gene_variant LIRI-JP 3 113127036 113127036 single base substitution T C intron_variant LIRI-JP 3 113127036 113127036 single base substitution T C upstream_gene_variant LIRI-JP 3 113127753 113127753 single base substitution T C intron_variant LIRI-JP 3 113129402 113129402 single base substitution C T intron_variant LIRI-JP 3 113131841 113131841 single base substitution T C intron_variant LIRI-JP 3 113133030 113133030 single base substitution T A intron_variant LIRI-JP 3 113135701 113135701 single base substitution T C intron_variant LIRI-JP 3 113136152 113136152 single base substitution C A intron_variant LIRI-JP 3 113137090 113137090 single base substitution A T intron_variant LIRI-JP 3 113137438 113137438 single base substitution C T intron_variant LIRI-JP 3 113138055 113138055 single base substitution C A intron_variant LIRI-JP 3 113138173 113138173 single base substitution C G intron_variant LIRI-JP 3 113138278 113138278 single base substitution T C intron_variant LIRI-JP 3 113139188 113139188 single base substitution C A intron_variant LIRI-JP 3 113140322 113140322 single base substitution T C downstream_gene_variant LIRI-JP 3 113140322 113140322 single base substitution T C intron_variant LIRI-JP 3 113141640 113141640 single base substitution T C downstream_gene_variant LIRI-JP 3 113141640 113141640 single base substitution T C intron_variant LIRI-JP 3 113142095 113142095 single base substitution G A downstream_gene_variant LIRI-JP 3 113142095 113142095 single base substitution G A intron_variant LIRI-JP 3 113143549 113143549 single base substitution C T downstream_gene_variant LIRI-JP 3 113143549 113143549 single base substitution C T intron_variant LIRI-JP 3 113144173 113144173 single base substitution T C downstream_gene_variant LIRI-JP 3 113144173 113144173 single base substitution T C intron_variant LIRI-JP 3 113145850 113145850 single base substitution A G downstream_gene_variant LIRI-JP 3 113145850 113145850 single base substitution A G intron_variant LIRI-JP 3 113145989 113145989 single base substitution C A downstream_gene_variant LIRI-JP 3 113145989 113145989 single base substitution C A intron_variant LIRI-JP 3 113146095 113146095 single base substitution A C intron_variant LIRI-JP 3 113146095 113146095 single base substitution A C missense_variant D64E 192T>G LIRI-JP 3 113146623 113146623 single base substitution A T intron_variant LIRI-JP 3 113149511 113149511 single base substitution G T intron_variant LIRI-JP 3 113150151 113150151 single base substitution G C intron_variant LIRI-JP 3 113151362 113151362 single base substitution T C intron_variant LIRI-JP 3 113153453 113153453 single base substitution T A 5_prime_UTR_variant LIRI-JP 3 113153453 113153453 single base substitution T A intron_variant LIRI-JP 3 113153453 113153453 single base substitution T A upstream_gene_variant LIRI-JP 3 113153991 113153991 single base substitution G C intron_variant LIRI-JP 3 113153991 113153991 single base substitution G C upstream_gene_variant LIRI-JP 3 113155486 113155486 single base substitution C T intron_variant LIRI-JP 3 113155486 113155486 single base substitution C T upstream_gene_variant LIRI-JP 3 113156868 113156868 single base substitution G T intron_variant LIRI-JP 3 113156868 113156868 single base substitution G T upstream_gene_variant LIRI-JP 3 113159425 113159425 single base substitution G A intron_variant LIRI-JP 3 113159450 113159450 single base substitution A G intron_variant LIRI-JP 3 113160813 113160813 single base substitution G C upstream_gene_variant LIRI-JP 3 113161812 113161812 single base substitution T A upstream_gene_variant LIRI-JP 3 113162513 113162513 single base substitution C T upstream_gene_variant LIRI-JP 3 113164345 113164345 single base substitution A G upstream_gene_variant LIRI-JP 3 113164983 113164983 single base substitution A G upstream_gene_variant LUSC-KR 3 113003595 113003595 single base substitution G C downstream_gene_variant LUSC-KR 3 113016923 113016923 single base substitution G T intron_variant LUSC-KR 3 113016923 113016923 single base substitution G T upstream_gene_variant LUSC-KR 3 113018293 113018293 single base substitution C T intron_variant LUSC-KR 3 113018293 113018293 single base substitution C T upstream_gene_variant LUSC-KR 3 113018500 113018500 single base substitution G A intron_variant LUSC-KR 3 113020032 113020032 single base substitution T C intron_variant LUSC-KR 3 113020280 113020280 single base substitution T C intron_variant LUSC-KR 3 113024028 113024028 single base substitution T A intron_variant LUSC-KR 3 113024028 113024028 single base substitution T A upstream_gene_variant LUSC-KR 3 113024612 113024612 single base substitution C A intron_variant LUSC-KR 3 113024612 113024612 single base substitution C A upstream_gene_variant LUSC-KR 3 113024746 113024746 single base substitution T C intron_variant LUSC-KR 3 113024746 113024746 single base substitution T C upstream_gene_variant LUSC-KR 3 113029626 113029626 single base substitution G A intron_variant LUSC-KR 3 113029904 113029904 single base substitution G T intron_variant LUSC-KR 3 113040727 113040727 single base substitution T C intron_variant LUSC-KR 3 113042432 113042432 single base substitution A C intron_variant LUSC-KR 3 113042907 113042907 single base substitution G A intron_variant LUSC-KR 3 113043702 113043702 single base substitution C A intron_variant LUSC-KR 3 113043740 113043740 single base substitution T C intron_variant LUSC-KR 3 113045215 113045215 single base substitution T G intron_variant LUSC-KR 3 113049937 113049937 single base substitution T C downstream_gene_variant LUSC-KR 3 113049937 113049937 single base substitution T C intron_variant LUSC-KR 3 113049937 113049937 single base substitution T C upstream_gene_variant LUSC-KR 3 113050910 113050910 single base substitution T A downstream_gene_variant LUSC-KR 3 113050910 113050910 single base substitution T A intron_variant LUSC-KR 3 113050910 113050910 single base substitution T A upstream_gene_variant LUSC-KR 3 113051488 113051488 single base substitution G A downstream_gene_variant LUSC-KR 3 113051488 113051488 single base substitution G A intron_variant LUSC-KR 3 113051488 113051488 single base substitution G A upstream_gene_variant LUSC-KR 3 113051837 113051837 single base substitution G A downstream_gene_variant LUSC-KR 3 113051837 113051837 single base substitution G A intron_variant LUSC-KR 3 113053731 113053731 single base substitution C A intron_variant LUSC-KR 3 113054032 113054032 single base substitution A G intron_variant LUSC-KR 3 113055397 113055397 single base substitution A T intron_variant LUSC-KR 3 113056258 113056258 single base substitution T A intron_variant LUSC-KR 3 113058971 113058971 single base substitution C A intron_variant LUSC-KR 3 113062029 113062029 single base substitution C A intron_variant LUSC-KR 3 113067573 113067573 single base substitution G A intron_variant LUSC-KR 3 113068448 113068448 single base substitution C A intron_variant LUSC-KR 3 113069145 113069145 single base substitution G A intron_variant LUSC-KR 3 113072182 113072182 single base substitution C G intron_variant LUSC-KR 3 113079910 113079910 single base substitution T C downstream_gene_variant LUSC-KR 3 113079910 113079910 single base substitution T C intron_variant LUSC-KR 3 113085490 113085490 single base substitution C G intron_variant LUSC-KR 3 113085490 113085490 single base substitution C G upstream_gene_variant LUSC-KR 3 113092255 113092255 single base substitution C T intron_variant LUSC-KR 3 113092255 113092255 single base substitution C T splice_region_variant LUSC-KR 3 113093729 113093729 single base substitution C A intron_variant LUSC-KR 3 113095174 113095174 single base substitution T A downstream_gene_variant LUSC-KR 3 113095174 113095174 single base substitution T A intron_variant LUSC-KR 3 113095667 113095667 single base substitution G A downstream_gene_variant LUSC-KR 3 113095667 113095667 single base substitution G A intron_variant LUSC-KR 3 113096497 113096497 single base substitution C A downstream_gene_variant LUSC-KR 3 113096497 113096497 single base substitution C A intron_variant LUSC-KR 3 113097548 113097548 single base substitution G C downstream_gene_variant LUSC-KR 3 113097548 113097548 single base substitution G C intron_variant LUSC-KR 3 113098312 113098312 single base substitution C A 3_prime_UTR_variant LUSC-KR 3 113098312 113098312 single base substitution C A downstream_gene_variant LUSC-KR 3 113098312 113098312 single base substitution C A missense_variant E713D 2139G>T LUSC-KR 3 113100625 113100625 single base substitution C A intron_variant LUSC-KR 3 113100756 113100756 single base substitution G A intron_variant LUSC-KR 3 113107475 113107475 single base substitution T A intron_variant LUSC-KR 3 113109229 113109229 single base substitution C A intron_variant LUSC-KR 3 113111207 113111207 single base substitution C A intron_variant LUSC-KR 3 113111298 113111298 single base substitution G A intron_variant LUSC-KR 3 113112205 113112205 single base substitution A T intron_variant LUSC-KR 3 113120181 113120181 single base substitution C A downstream_gene_variant LUSC-KR 3 113120181 113120181 single base substitution C A intron_variant LUSC-KR 3 113120181 113120181 single base substitution C A upstream_gene_variant LUSC-KR 3 113122844 113122844 single base substitution C A 3_prime_UTR_variant LUSC-KR 3 113122844 113122844 single base substitution C A downstream_gene_variant LUSC-KR 3 113122844 113122844 single base substitution C A missense_variant W342L 1025G>T LUSC-KR 3 113122844 113122844 single base substitution C A upstream_gene_variant LUSC-KR 3 113124980 113124980 single base substitution G C intron_variant LUSC-KR 3 113124980 113124980 single base substitution G C upstream_gene_variant LUSC-KR 3 113125986 113125986 single base substitution T C intron_variant LUSC-KR 3 113125986 113125986 single base substitution T C upstream_gene_variant LUSC-KR 3 113126051 113126051 single base substitution G A intron_variant LUSC-KR 3 113126051 113126051 single base substitution G A upstream_gene_variant LUSC-KR 3 113126769 113126769 single base substitution C G intron_variant LUSC-KR 3 113126769 113126769 single base substitution C G upstream_gene_variant LUSC-KR 3 113127054 113127054 single base substitution T G intron_variant LUSC-KR 3 113127054 113127054 single base substitution T G upstream_gene_variant LUSC-KR 3 113135439 113135439 single base substitution T C 3_prime_UTR_variant LUSC-KR 3 113135439 113135439 single base substitution T C synonymous_variant E202E 606A>G LUSC-KR 3 113137489 113137489 single base substitution G A intron_variant LUSC-KR 3 113138138 113138138 single base substitution T A intron_variant LUSC-KR 3 113140025 113140025 single base substitution C T downstream_gene_variant LUSC-KR 3 113140025 113140025 single base substitution C T intron_variant LUSC-KR 3 113145742 113145742 single base substitution T C downstream_gene_variant LUSC-KR 3 113145742 113145742 single base substitution T C intron_variant LUSC-KR 3 113147884 113147884 single base substitution T C intron_variant LUSC-KR 3 113149654 113149654 single base substitution T G intron_variant LUSC-KR 3 113152028 113152028 single base substitution C A intron_variant LUSC-KR 3 113153209 113153209 single base substitution C A intron_variant LUSC-KR 3 113153209 113153209 single base substitution C A upstream_gene_variant LUSC-KR 3 113160821 113160821 single base substitution C A upstream_gene_variant LUSC-US 3 113098309 113098309 single base substitution C A 3_prime_UTR_variant LUSC-US 3 113098309 113098309 single base substitution C A downstream_gene_variant LUSC-US 3 113098309 113098309 single base substitution C A missense_variant M714I 2142G>T LUSC-US 3 113098376 113098376 single base substitution C T 3_prime_UTR_variant LUSC-US 3 113098376 113098376 single base substitution C T downstream_gene_variant LUSC-US 3 113098376 113098376 single base substitution C T missense_variant R692K 2075G>A LUSC-US 3 113122773 113122773 single base substitution G A 3_prime_UTR_variant LUSC-US 3 113122773 113122773 single base substitution G A downstream_gene_variant LUSC-US 3 113122773 113122773 single base substitution G A missense_variant H366Y 1096C>T LUSC-US 3 113122773 113122773 single base substitution G A upstream_gene_variant LUSC-US 3 113135375 113135375 single base substitution G T 3_prime_UTR_variant LUSC-US 3 113135375 113135375 single base substitution G T synonymous_variant R224R 670C>A LUSC-US 3 113135402 113135402 single base substitution G A 3_prime_UTR_variant LUSC-US 3 113135402 113135402 single base substitution G A missense_variant P215S 643C>T LUSC-US 3 113135435 113135435 single base substitution C A 3_prime_UTR_variant LUSC-US 3 113135435 113135435 single base substitution C A missense_variant G204W 610G>T LUSC-US 3 113138899 113138899 single base substitution G A intron_variant LUSC-US 3 113138899 113138899 single base substitution G A stop_gained R179* 535C>T LUSC-US 3 113138979 113138979 single base substitution A G intron_variant LUSC-US 3 113138979 113138979 single base substitution A G missense_variant L152P 455T>C LUSC-US 3 113145025 113145025 single base substitution G A downstream_gene_variant LUSC-US 3 113145025 113145025 single base substitution G A exon_variant LUSC-US 3 113145025 113145025 single base substitution G A intron_variant LUSC-US 3 113145025 113145025 single base substitution G A missense_variant S118L 353C>T LUSC-US 3 113146061 113146061 single base substitution G A intron_variant LUSC-US 3 113146061 113146061 single base substitution G A stop_gained Q76* 226C>T MALY-DE 3 113002096 113002096 single base substitution T G downstream_gene_variant MALY-DE 3 113002213 113002213 single base substitution T C downstream_gene_variant MALY-DE 3 113005753 113005753 single base substitution T A downstream_gene_variant MALY-DE 3 113041136 113041136 single base substitution A G intron_variant MALY-DE 3 113045149 113045149 single base substitution C G intron_variant MALY-DE 3 113047835 113047835 single base substitution C A downstream_gene_variant MALY-DE 3 113047835 113047835 single base substitution C A intron_variant MALY-DE 3 113047835 113047835 single base substitution C A upstream_gene_variant MALY-DE 3 113052805 113052805 single base substitution T C intron_variant MALY-DE 3 113066741 113066741 insertion of <=200bp - G intron_variant MALY-DE 3 113067014 113067014 deletion of <=200bp C - intron_variant MALY-DE 3 113069204 113069205 deletion of <=200bp AG - intron_variant MALY-DE 3 113069689 113069689 single base substitution T G intron_variant MALY-DE 3 113078853 113078853 single base substitution C T downstream_gene_variant MALY-DE 3 113078853 113078853 single base substitution C T intron_variant MALY-DE 3 113079774 113079774 deletion of <=200bp A - downstream_gene_variant MALY-DE 3 113079774 113079774 deletion of <=200bp A - intron_variant MALY-DE 3 113084338 113084338 single base substitution G T intron_variant MALY-DE 3 113084338 113084338 single base substitution G T upstream_gene_variant MALY-DE 3 113101708 113101708 single base substitution T C intron_variant MALY-DE 3 113110177 113110177 insertion of <=200bp - A intron_variant MALY-DE 3 113121910 113121910 single base substitution G A downstream_gene_variant MALY-DE 3 113121910 113121910 single base substitution G A intron_variant MALY-DE 3 113123753 113123753 single base substitution G C intron_variant MALY-DE 3 113123753 113123753 single base substitution G C upstream_gene_variant MALY-DE 3 113126090 113126090 single base substitution C G intron_variant MALY-DE 3 113126090 113126090 single base substitution C G upstream_gene_variant MALY-DE 3 113139248 113139248 single base substitution T C intron_variant MALY-DE 3 113140113 113140113 single base substitution G A downstream_gene_variant MALY-DE 3 113140113 113140113 single base substitution G A intron_variant MALY-DE 3 113152371 113152371 single base substitution A G intron_variant MALY-DE 3 113152844 113152844 single base substitution T G intron_variant MALY-DE 3 113152844 113152844 single base substitution T G upstream_gene_variant MALY-DE 3 113155729 113155729 single base substitution A C intron_variant MALY-DE 3 113155729 113155729 single base substitution A C upstream_gene_variant MELA-AU 3 113000828 113000828 single base substitution G C downstream_gene_variant MELA-AU 3 113001783 113001783 single base substitution C T downstream_gene_variant MELA-AU 3 113001902 113001903 deletion of <=200bp TC - downstream_gene_variant MELA-AU 3 113002279 113002279 single base substitution C T downstream_gene_variant MELA-AU 3 113002401 113002401 single base substitution G A downstream_gene_variant MELA-AU 3 113002503 113002503 single base substitution G A downstream_gene_variant MELA-AU 3 113002574 113002574 single base substitution C T downstream_gene_variant MELA-AU 3 113002945 113002945 single base substitution T C downstream_gene_variant MELA-AU 3 113003019 113003019 single base substitution G A downstream_gene_variant MELA-AU 3 113003123 113003123 single base substitution T C downstream_gene_variant MELA-AU 3 113004027 113004027 single base substitution G A downstream_gene_variant MELA-AU 3 113004374 113004374 single base substitution C T downstream_gene_variant MELA-AU 3 113005696 113005696 single base substitution C T downstream_gene_variant MELA-AU 3 113005753 113005753 single base substitution T A downstream_gene_variant MELA-AU 3 113006089 113006089 single base substitution G A 3_prime_UTR_variant MELA-AU 3 113006089 113006089 single base substitution G A downstream_gene_variant MELA-AU 3 113006528 113006528 single base substitution A G 3_prime_UTR_variant MELA-AU 3 113006528 113006528 single base substitution A G downstream_gene_variant MELA-AU 3 113006939 113006939 single base substitution C T 3_prime_UTR_variant MELA-AU 3 113006939 113006939 single base substitution C T downstream_gene_variant MELA-AU 3 113006956 113006956 single base substitution C T 3_prime_UTR_variant MELA-AU 3 113006956 113006956 single base substitution C T downstream_gene_variant MELA-AU 3 113007129 113007129 single base substitution A C 3_prime_UTR_variant MELA-AU 3 113007129 113007129 single base substitution A C downstream_gene_variant MELA-AU 3 113007958 113007958 single base substitution G A 3_prime_UTR_variant MELA-AU 3 113007958 113007958 single base substitution G A downstream_gene_variant MELA-AU 3 113009419 113009419 single base substitution C T 3_prime_UTR_variant MELA-AU 3 113009419 113009419 single base substitution C T downstream_gene_variant MELA-AU 3 113010605 113010605 single base substitution G A downstream_gene_variant MELA-AU 3 113010605 113010605 single base substitution G A intron_variant MELA-AU 3 113010931 113010931 single base substitution G A downstream_gene_variant MELA-AU 3 113010931 113010931 single base substitution G A intron_variant MELA-AU 3 113011785 113011785 single base substitution G A downstream_gene_variant MELA-AU 3 113011785 113011785 single base substitution G A intron_variant MELA-AU 3 113012832 113012832 single base substitution C G 3_prime_UTR_variant MELA-AU 3 113012832 113012832 single base substitution C G downstream_gene_variant MELA-AU 3 113012832 113012832 single base substitution C G exon_variant MELA-AU 3 113012832 113012832 single base substitution C G intron_variant MELA-AU 3 113014262 113014262 single base substitution C T intron_variant MELA-AU 3 113014262 113014262 single base substitution C T upstream_gene_variant MELA-AU 3 113014303 113014303 single base substitution C T intron_variant MELA-AU 3 113014303 113014303 single base substitution C T upstream_gene_variant MELA-AU 3 113014820 113014820 single base substitution G A intron_variant MELA-AU 3 113014820 113014820 single base substitution G A upstream_gene_variant MELA-AU 3 113014884 113014884 single base substitution C T intron_variant MELA-AU 3 113014884 113014884 single base substitution C T upstream_gene_variant MELA-AU 3 113015173 113015173 single base substitution G A intron_variant MELA-AU 3 113015173 113015173 single base substitution G A upstream_gene_variant MELA-AU 3 113015443 113015443 single base substitution G A intron_variant MELA-AU 3 113015443 113015443 single base substitution G A upstream_gene_variant MELA-AU 3 113015505 113015505 single base substitution C T intron_variant MELA-AU 3 113015505 113015505 single base substitution C T upstream_gene_variant MELA-AU 3 113015912 113015912 single base substitution G A intron_variant MELA-AU 3 113015912 113015912 single base substitution G A upstream_gene_variant MELA-AU 3 113016954 113016954 single base substitution G A intron_variant MELA-AU 3 113016954 113016954 single base substitution G A upstream_gene_variant MELA-AU 3 113017438 113017438 single base substitution C T intron_variant MELA-AU 3 113017438 113017438 single base substitution C T upstream_gene_variant MELA-AU 3 113018235 113018235 single base substitution G T intron_variant MELA-AU 3 113018235 113018235 single base substitution G T upstream_gene_variant MELA-AU 3 113018428 113018428 single base substitution G A intron_variant MELA-AU 3 113018546 113018546 single base substitution G A intron_variant MELA-AU 3 113020231 113020231 single base substitution G A intron_variant MELA-AU 3 113020713 113020713 single base substitution G A intron_variant MELA-AU 3 113020806 113020806 single base substitution C T intron_variant MELA-AU 3 113021037 113021037 single base substitution T G intron_variant MELA-AU 3 113021503 113021503 single base substitution G A intron_variant MELA-AU 3 113022033 113022033 single base substitution G A intron_variant MELA-AU 3 113022403 113022403 single base substitution C T intron_variant MELA-AU 3 113022580 113022580 single base substitution G A intron_variant MELA-AU 3 113023685 113023685 single base substitution G A intron_variant MELA-AU 3 113023685 113023685 single base substitution G A upstream_gene_variant MELA-AU 3 113023870 113023870 single base substitution C T intron_variant MELA-AU 3 113023870 113023870 single base substitution C T upstream_gene_variant MELA-AU 3 113024251 113024251 single base substitution G A intron_variant MELA-AU 3 113024251 113024251 single base substitution G A upstream_gene_variant MELA-AU 3 113024567 113024567 single base substitution G A intron_variant MELA-AU 3 113024567 113024567 single base substitution G A upstream_gene_variant MELA-AU 3 113025149 113025149 single base substitution G A exon_variant MELA-AU 3 113025149 113025149 single base substitution G A missense_variant L1553F 4657C>T MELA-AU 3 113025149 113025149 single base substitution G A missense_variant L156F 466C>T MELA-AU 3 113025149 113025149 single base substitution G A missense_variant L689F 2065C>T MELA-AU 3 113025149 113025149 single base substitution G A upstream_gene_variant MELA-AU 3 113026017 113026017 single base substitution G A intron_variant MELA-AU 3 113026017 113026017 single base substitution G A upstream_gene_variant MELA-AU 3 113026254 113026254 single base substitution C A intron_variant MELA-AU 3 113026254 113026254 single base substitution C A upstream_gene_variant MELA-AU 3 113026644 113026644 single base substitution G A intron_variant MELA-AU 3 113026644 113026644 single base substitution G A upstream_gene_variant MELA-AU 3 113027372 113027372 single base substitution G A intron_variant MELA-AU 3 113027372 113027372 single base substitution G A upstream_gene_variant MELA-AU 3 113027637 113027637 single base substitution G A intron_variant MELA-AU 3 113027637 113027637 single base substitution G A upstream_gene_variant MELA-AU 3 113027681 113027682 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 113027681 113027682 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 113027923 113027923 single base substitution C T intron_variant MELA-AU 3 113027923 113027923 single base substitution C T upstream_gene_variant MELA-AU 3 113028235 113028235 single base substitution C T intron_variant MELA-AU 3 113028317 113028317 single base substitution C T intron_variant MELA-AU 3 113028885 113028885 single base substitution G A intron_variant MELA-AU 3 113029282 113029282 single base substitution G A intron_variant MELA-AU 3 113029496 113029496 single base substitution T A intron_variant MELA-AU 3 113030031 113030031 single base substitution G A intron_variant MELA-AU 3 113030167 113030167 single base substitution C T intron_variant MELA-AU 3 113030192 113030192 single base substitution G A intron_variant MELA-AU 3 113030729 113030729 single base substitution G A intron_variant MELA-AU 3 113030801 113030801 single base substitution A G intron_variant MELA-AU 3 113030828 113030828 single base substitution G A intron_variant MELA-AU 3 113031212 113031212 single base substitution G A intron_variant MELA-AU 3 113031226 113031226 single base substitution A C intron_variant MELA-AU 3 113031253 113031253 single base substitution G A intron_variant MELA-AU 3 113031505 113031505 single base substitution G A intron_variant MELA-AU 3 113031591 113031591 single base substitution A T intron_variant MELA-AU 3 113031698 113031698 single base substitution G A intron_variant MELA-AU 3 113031729 113031729 single base substitution G A intron_variant MELA-AU 3 113031807 113031807 single base substitution G A intron_variant MELA-AU 3 113031834 113031834 single base substitution G A intron_variant MELA-AU 3 113031845 113031845 single base substitution G A intron_variant MELA-AU 3 113031847 113031847 single base substitution G A intron_variant MELA-AU 3 113032024 113032024 single base substitution G A intron_variant MELA-AU 3 113032282 113032282 single base substitution G A intron_variant MELA-AU 3 113032339 113032339 single base substitution G A intron_variant MELA-AU 3 113033345 113033345 single base substitution C T intron_variant MELA-AU 3 113033547 113033547 single base substitution G T intron_variant MELA-AU 3 113033567 113033567 single base substitution G A intron_variant MELA-AU 3 113033599 113033599 single base substitution G A intron_variant MELA-AU 3 113033602 113033602 single base substitution G A intron_variant MELA-AU 3 113033698 113033698 single base substitution G A intron_variant MELA-AU 3 113033779 113033779 single base substitution G A intron_variant MELA-AU 3 113033849 113033849 single base substitution G A intron_variant MELA-AU 3 113033893 113033893 single base substitution G A intron_variant MELA-AU 3 113034210 113034210 single base substitution A T intron_variant MELA-AU 3 113034224 113034224 single base substitution A T intron_variant MELA-AU 3 113034951 113034951 single base substitution G A intron_variant MELA-AU 3 113035156 113035156 single base substitution G A intron_variant MELA-AU 3 113035210 113035210 single base substitution C T intron_variant MELA-AU 3 113035667 113035667 single base substitution G A intron_variant MELA-AU 3 113035920 113035920 single base substitution G A intron_variant MELA-AU 3 113036030 113036030 single base substitution G A intron_variant MELA-AU 3 113036059 113036059 single base substitution C T intron_variant MELA-AU 3 113036231 113036231 single base substitution G A intron_variant MELA-AU 3 113036408 113036408 single base substitution G A intron_variant MELA-AU 3 113036684 113036684 single base substitution G A intron_variant MELA-AU 3 113036744 113036744 single base substitution G A intron_variant MELA-AU 3 113037006 113037006 single base substitution T C intron_variant MELA-AU 3 113037626 113037626 single base substitution C T intron_variant MELA-AU 3 113037905 113037905 single base substitution G A intron_variant MELA-AU 3 113038209 113038209 single base substitution A T intron_variant MELA-AU 3 113038680 113038680 single base substitution G A intron_variant MELA-AU 3 113038839 113038839 single base substitution G A intron_variant MELA-AU 3 113038880 113038880 single base substitution G A intron_variant MELA-AU 3 113039152 113039152 single base substitution C T intron_variant MELA-AU 3 113039488 113039488 single base substitution T A intron_variant MELA-AU 3 113039931 113039931 single base substitution G A intron_variant MELA-AU 3 113040203 113040203 single base substitution T A intron_variant MELA-AU 3 113040294 113040294 single base substitution C T intron_variant MELA-AU 3 113040414 113040414 single base substitution G A intron_variant MELA-AU 3 113040419 113040419 single base substitution C A intron_variant MELA-AU 3 113040482 113040482 single base substitution G A intron_variant MELA-AU 3 113040681 113040681 single base substitution G A intron_variant MELA-AU 3 113041060 113041060 single base substitution G A intron_variant MELA-AU 3 113041280 113041280 single base substitution G A intron_variant MELA-AU 3 113041543 113041543 single base substitution A G intron_variant MELA-AU 3 113041710 113041710 single base substitution G A intron_variant MELA-AU 3 113041755 113041755 single base substitution G A intron_variant MELA-AU 3 113041774 113041774 single base substitution G C intron_variant MELA-AU 3 113041846 113041846 single base substitution G A intron_variant MELA-AU 3 113041974 113041974 single base substitution G A intron_variant MELA-AU 3 113042518 113042518 single base substitution A C intron_variant MELA-AU 3 113042801 113042801 single base substitution G A intron_variant MELA-AU 3 113043181 113043181 single base substitution G A intron_variant MELA-AU 3 113043239 113043239 single base substitution C T intron_variant MELA-AU 3 113043271 113043271 single base substitution G A intron_variant MELA-AU 3 113043428 113043428 single base substitution G A intron_variant MELA-AU 3 113044074 113044074 single base substitution G A intron_variant MELA-AU 3 113044574 113044574 single base substitution G A intron_variant MELA-AU 3 113044834 113044834 single base substitution G A intron_variant MELA-AU 3 113044856 113044856 single base substitution G A intron_variant MELA-AU 3 113045154 113045154 single base substitution C T intron_variant MELA-AU 3 113046030 113046030 single base substitution A T intron_variant MELA-AU 3 113046675 113046675 single base substitution G A intron_variant MELA-AU 3 113046675 113046675 single base substitution G A upstream_gene_variant MELA-AU 3 113046858 113046858 single base substitution G A intron_variant MELA-AU 3 113046858 113046858 single base substitution G A upstream_gene_variant MELA-AU 3 113047243 113047243 single base substitution G A intron_variant MELA-AU 3 113047243 113047243 single base substitution G A upstream_gene_variant MELA-AU 3 113048224 113048224 single base substitution G A downstream_gene_variant MELA-AU 3 113048224 113048224 single base substitution G A intron_variant MELA-AU 3 113048224 113048224 single base substitution G A upstream_gene_variant MELA-AU 3 113048287 113048287 single base substitution G A downstream_gene_variant MELA-AU 3 113048287 113048287 single base substitution G A intron_variant MELA-AU 3 113048287 113048287 single base substitution G A upstream_gene_variant MELA-AU 3 113048983 113048983 single base substitution C T downstream_gene_variant MELA-AU 3 113048983 113048983 single base substitution C T intron_variant MELA-AU 3 113048983 113048983 single base substitution C T upstream_gene_variant MELA-AU 3 113049513 113049513 single base substitution G A downstream_gene_variant MELA-AU 3 113049513 113049513 single base substitution G A splice_region_variant MELA-AU 3 113049513 113049513 single base substitution G A upstream_gene_variant MELA-AU 3 113049632 113049632 single base substitution C T downstream_gene_variant MELA-AU 3 113049632 113049632 single base substitution C T intron_variant MELA-AU 3 113049632 113049632 single base substitution C T upstream_gene_variant MELA-AU 3 113049682 113049682 single base substitution G A downstream_gene_variant MELA-AU 3 113049682 113049682 single base substitution G A intron_variant MELA-AU 3 113049682 113049682 single base substitution G A upstream_gene_variant MELA-AU 3 113049934 113049934 single base substitution G A downstream_gene_variant MELA-AU 3 113049934 113049934 single base substitution G A intron_variant MELA-AU 3 113049934 113049934 single base substitution G A upstream_gene_variant MELA-AU 3 113049960 113049960 single base substitution G A downstream_gene_variant MELA-AU 3 113049960 113049960 single base substitution G A intron_variant MELA-AU 3 113049960 113049960 single base substitution G A upstream_gene_variant MELA-AU 3 113050144 113050144 single base substitution C T downstream_gene_variant MELA-AU 3 113050144 113050144 single base substitution C T intron_variant MELA-AU 3 113050144 113050144 single base substitution C T upstream_gene_variant MELA-AU 3 113050229 113050230 multiple base substitution (>=2bp and <=200bp) CT AG downstream_gene_variant MELA-AU 3 113050229 113050230 multiple base substitution (>=2bp and <=200bp) CT AG intron_variant MELA-AU 3 113050229 113050230 multiple base substitution (>=2bp and <=200bp) CT AG upstream_gene_variant MELA-AU 3 113050867 113050867 single base substitution G A downstream_gene_variant MELA-AU 3 113050867 113050867 single base substitution G A intron_variant MELA-AU 3 113050867 113050867 single base substitution G A upstream_gene_variant MELA-AU 3 113051016 113051016 single base substitution G A downstream_gene_variant MELA-AU 3 113051016 113051016 single base substitution G A intron_variant MELA-AU 3 113051016 113051016 single base substitution G A upstream_gene_variant MELA-AU 3 113051228 113051228 single base substitution G A downstream_gene_variant MELA-AU 3 113051228 113051228 single base substitution G A intron_variant MELA-AU 3 113051228 113051228 single base substitution G A upstream_gene_variant MELA-AU 3 113051341 113051341 single base substitution G A downstream_gene_variant MELA-AU 3 113051341 113051341 single base substitution G A intron_variant MELA-AU 3 113051341 113051341 single base substitution G A upstream_gene_variant MELA-AU 3 113051380 113051380 single base substitution A G downstream_gene_variant MELA-AU 3 113051380 113051380 single base substitution A G intron_variant MELA-AU 3 113051380 113051380 single base substitution A G upstream_gene_variant MELA-AU 3 113051527 113051527 single base substitution A G downstream_gene_variant MELA-AU 3 113051527 113051527 single base substitution A G intron_variant MELA-AU 3 113051527 113051527 single base substitution A G upstream_gene_variant MELA-AU 3 113051705 113051705 single base substitution G A downstream_gene_variant MELA-AU 3 113051705 113051705 single base substitution G A intron_variant MELA-AU 3 113052084 113052099 deletion of <=200bp TTATTTGTAAAAAGAG - downstream_gene_variant MELA-AU 3 113052084 113052099 deletion of <=200bp TTATTTGTAAAAAGAG - intron_variant MELA-AU 3 113052450 113052450 deletion of <=200bp C - intron_variant MELA-AU 3 113052956 113052956 single base substitution A C intron_variant MELA-AU 3 113053192 113053192 single base substitution C T intron_variant MELA-AU 3 113053462 113053462 single base substitution G A intron_variant MELA-AU 3 113053651 113053651 single base substitution C A intron_variant MELA-AU 3 113053663 113053663 single base substitution G A intron_variant MELA-AU 3 113053668 113053668 single base substitution G A intron_variant MELA-AU 3 113053891 113053891 single base substitution G A intron_variant MELA-AU 3 113054924 113054924 single base substitution G A intron_variant MELA-AU 3 113055029 113055029 single base substitution A G intron_variant MELA-AU 3 113055204 113055204 single base substitution A G intron_variant MELA-AU 3 113055616 113055616 single base substitution G A intron_variant MELA-AU 3 113055745 113055745 single base substitution C T intron_variant MELA-AU 3 113055917 113055917 single base substitution C T intron_variant MELA-AU 3 113056790 113056790 single base substitution A C intron_variant MELA-AU 3 113056827 113056827 single base substitution A T intron_variant MELA-AU 3 113056975 113056975 single base substitution A T intron_variant MELA-AU 3 113057090 113057090 single base substitution G A intron_variant MELA-AU 3 113057801 113057801 single base substitution A C intron_variant MELA-AU 3 113057939 113057939 single base substitution C T intron_variant MELA-AU 3 113058156 113058156 single base substitution G A intron_variant MELA-AU 3 113058210 113058210 single base substitution C T intron_variant MELA-AU 3 113058314 113058314 single base substitution G A intron_variant MELA-AU 3 113058681 113058681 single base substitution G A intron_variant MELA-AU 3 113058702 113058702 single base substitution G A intron_variant MELA-AU 3 113058837 113058837 single base substitution G A intron_variant MELA-AU 3 113058846 113058846 single base substitution G A intron_variant MELA-AU 3 113058884 113058884 single base substitution G A intron_variant MELA-AU 3 113059081 113059081 single base substitution G A intron_variant MELA-AU 3 113059200 113059200 single base substitution G A intron_variant MELA-AU 3 113059303 113059303 single base substitution G A intron_variant MELA-AU 3 113059309 113059309 single base substitution G A intron_variant MELA-AU 3 113059434 113059434 single base substitution C T intron_variant MELA-AU 3 113059460 113059460 single base substitution G A intron_variant MELA-AU 3 113060048 113060048 single base substitution G A intron_variant MELA-AU 3 113060152 113060152 single base substitution G A intron_variant MELA-AU 3 113060192 113060192 single base substitution G A intron_variant MELA-AU 3 113060206 113060206 single base substitution A T intron_variant MELA-AU 3 113060712 113060712 single base substitution G A exon_variant MELA-AU 3 113060712 113060712 single base substitution G A missense_variant R1106W 3316C>T MELA-AU 3 113060712 113060712 single base substitution G A missense_variant R242W 724C>T MELA-AU 3 113060719 113060719 single base substitution C T exon_variant MELA-AU 3 113060719 113060719 single base substitution C T synonymous_variant K1103K 3309G>A MELA-AU 3 113060719 113060719 single base substitution C T synonymous_variant K239K 717G>A MELA-AU 3 113061155 113061155 single base substitution G A intron_variant MELA-AU 3 113061160 113061160 single base substitution A G intron_variant MELA-AU 3 113061312 113061312 single base substitution T A intron_variant MELA-AU 3 113061510 113061510 single base substitution C T intron_variant MELA-AU 3 113061550 113061550 single base substitution G A intron_variant MELA-AU 3 113061601 113061601 single base substitution G A intron_variant MELA-AU 3 113062231 113062231 single base substitution G A intron_variant MELA-AU 3 113063021 113063021 single base substitution C T intron_variant MELA-AU 3 113063243 113063243 single base substitution G A intron_variant MELA-AU 3 113063555 113063555 single base substitution G A intron_variant MELA-AU 3 113063555 113063555 single base substitution G A stop_gained R1024* 3070C>T MELA-AU 3 113063555 113063555 single base substitution G A stop_gained R160* 478C>T MELA-AU 3 113063632 113063632 single base substitution A G intron_variant MELA-AU 3 113063885 113063885 single base substitution G A intron_variant MELA-AU 3 113064239 113064239 single base substitution G A intron_variant MELA-AU 3 113064761 113064761 single base substitution C T intron_variant MELA-AU 3 113064976 113064976 single base substitution G A intron_variant MELA-AU 3 113064977 113064977 single base substitution G A intron_variant MELA-AU 3 113065618 113065618 single base substitution G A intron_variant MELA-AU 3 113065640 113065640 single base substitution G A intron_variant MELA-AU 3 113065801 113065802 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 3 113065968 113065968 single base substitution G A intron_variant MELA-AU 3 113066120 113066120 single base substitution C T intron_variant MELA-AU 3 113066471 113066471 single base substitution G A intron_variant MELA-AU 3 113066671 113066671 single base substitution C T intron_variant MELA-AU 3 113066785 113066785 single base substitution T A intron_variant MELA-AU 3 113066962 113066962 single base substitution G A intron_variant MELA-AU 3 113067051 113067051 single base substitution G A intron_variant MELA-AU 3 113067090 113067090 single base substitution C A intron_variant MELA-AU 3 113067256 113067256 single base substitution G A intron_variant MELA-AU 3 113067333 113067333 single base substitution C T intron_variant MELA-AU 3 113067454 113067454 single base substitution T A intron_variant MELA-AU 3 113067488 113067488 single base substitution G C intron_variant MELA-AU 3 113067504 113067504 single base substitution G A intron_variant MELA-AU 3 113067839 113067839 single base substitution G A intron_variant MELA-AU 3 113068252 113068252 single base substitution G A intron_variant MELA-AU 3 113068713 113068713 single base substitution G A intron_variant MELA-AU 3 113068943 113068943 single base substitution G A intron_variant MELA-AU 3 113069021 113069021 single base substitution G A intron_variant MELA-AU 3 113069029 113069029 single base substitution G A intron_variant MELA-AU 3 113069153 113069153 single base substitution G A intron_variant MELA-AU 3 113069515 113069515 single base substitution G A intron_variant MELA-AU 3 113069985 113069985 single base substitution G A intron_variant MELA-AU 3 113070107 113070107 single base substitution A G intron_variant MELA-AU 3 113070366 113070366 single base substitution G A intron_variant MELA-AU 3 113070743 113070743 single base substitution C T intron_variant MELA-AU 3 113071326 113071326 single base substitution G A intron_variant MELA-AU 3 113071329 113071329 single base substitution A G intron_variant MELA-AU 3 113071514 113071514 single base substitution A T intron_variant MELA-AU 3 113071853 113071853 single base substitution G A intron_variant MELA-AU 3 113071861 113071861 single base substitution G A intron_variant MELA-AU 3 113071894 113071894 single base substitution G A intron_variant MELA-AU 3 113072514 113072514 single base substitution G A intron_variant MELA-AU 3 113072613 113072613 single base substitution C T intron_variant MELA-AU 3 113072785 113072785 single base substitution G A intron_variant MELA-AU 3 113073142 113073142 single base substitution C A intron_variant MELA-AU 3 113073176 113073177 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 3 113073250 113073250 single base substitution G A intron_variant MELA-AU 3 113073420 113073420 single base substitution G A intron_variant MELA-AU 3 113073660 113073660 single base substitution C G intron_variant MELA-AU 3 113073843 113073843 single base substitution G A intron_variant MELA-AU 3 113074018 113074018 single base substitution G A intron_variant MELA-AU 3 113074051 113074051 single base substitution C T intron_variant MELA-AU 3 113074392 113074392 single base substitution G A intron_variant MELA-AU 3 113074794 113074794 single base substitution A G intron_variant MELA-AU 3 113074914 113074914 single base substitution C G intron_variant MELA-AU 3 113075479 113075479 single base substitution G A intron_variant MELA-AU 3 113075932 113075932 single base substitution G A intron_variant MELA-AU 3 113076252 113076252 single base substitution G A intron_variant MELA-AU 3 113076376 113076376 single base substitution G A intron_variant MELA-AU 3 113076420 113076420 single base substitution G A intron_variant MELA-AU 3 113076883 113076888 deletion of <=200bp AACACT - downstream_gene_variant MELA-AU 3 113076883 113076888 deletion of <=200bp AACACT - intron_variant MELA-AU 3 113078008 113078008 single base substitution G A downstream_gene_variant MELA-AU 3 113078008 113078008 single base substitution G A intron_variant MELA-AU 3 113078068 113078068 single base substitution C T downstream_gene_variant MELA-AU 3 113078068 113078068 single base substitution C T intron_variant MELA-AU 3 113078263 113078263 single base substitution G T downstream_gene_variant MELA-AU 3 113078263 113078263 single base substitution G T intron_variant MELA-AU 3 113078292 113078292 single base substitution C T downstream_gene_variant MELA-AU 3 113078292 113078292 single base substitution C T intron_variant MELA-AU 3 113078571 113078571 single base substitution G A downstream_gene_variant MELA-AU 3 113078571 113078571 single base substitution G A intron_variant MELA-AU 3 113079366 113079366 single base substitution G A downstream_gene_variant MELA-AU 3 113079366 113079366 single base substitution G A intron_variant MELA-AU 3 113079435 113079435 single base substitution G A downstream_gene_variant MELA-AU 3 113079435 113079435 single base substitution G A intron_variant MELA-AU 3 113079675 113079675 single base substitution G A downstream_gene_variant MELA-AU 3 113079675 113079675 single base substitution G A intron_variant MELA-AU 3 113079989 113079989 single base substitution G A downstream_gene_variant MELA-AU 3 113079989 113079989 single base substitution G A intron_variant MELA-AU 3 113080020 113080020 single base substitution G A downstream_gene_variant MELA-AU 3 113080020 113080020 single base substitution G A intron_variant MELA-AU 3 113080783 113080783 single base substitution G T downstream_gene_variant MELA-AU 3 113080783 113080783 single base substitution G T intron_variant MELA-AU 3 113081127 113081127 single base substitution G A downstream_gene_variant MELA-AU 3 113081127 113081127 single base substitution G A intron_variant MELA-AU 3 113081723 113081723 single base substitution C T 3_prime_UTR_variant MELA-AU 3 113081723 113081723 single base substitution C T intron_variant MELA-AU 3 113082150 113082150 single base substitution C T 3_prime_UTR_variant MELA-AU 3 113082150 113082150 single base substitution C T exon_variant MELA-AU 3 113082150 113082150 single base substitution C T missense_variant E62K 184G>A MELA-AU 3 113082150 113082150 single base substitution C T missense_variant E926K 2776G>A MELA-AU 3 113082430 113082430 single base substitution C T intron_variant MELA-AU 3 113082430 113082430 single base substitution C T upstream_gene_variant MELA-AU 3 113082542 113082542 single base substitution A G intron_variant MELA-AU 3 113082542 113082542 single base substitution A G upstream_gene_variant MELA-AU 3 113082589 113082589 single base substitution G A intron_variant MELA-AU 3 113082589 113082589 single base substitution G A upstream_gene_variant MELA-AU 3 113082950 113082950 single base substitution G A intron_variant MELA-AU 3 113082950 113082950 single base substitution G A upstream_gene_variant MELA-AU 3 113084207 113084207 single base substitution G A intron_variant MELA-AU 3 113084207 113084207 single base substitution G A upstream_gene_variant MELA-AU 3 113084208 113084208 single base substitution G A intron_variant MELA-AU 3 113084208 113084208 single base substitution G A upstream_gene_variant MELA-AU 3 113084812 113084812 single base substitution G A intron_variant MELA-AU 3 113084812 113084812 single base substitution G A upstream_gene_variant MELA-AU 3 113084990 113084990 single base substitution G A intron_variant MELA-AU 3 113084990 113084990 single base substitution G A missense_variant R7C 19C>T MELA-AU 3 113084990 113084990 single base substitution G A missense_variant R871C 2611C>T MELA-AU 3 113084990 113084990 single base substitution G A upstream_gene_variant MELA-AU 3 113085660 113085660 single base substitution G A intron_variant MELA-AU 3 113085660 113085660 single base substitution G A upstream_gene_variant MELA-AU 3 113086352 113086352 single base substitution G A intron_variant MELA-AU 3 113086352 113086352 single base substitution G A upstream_gene_variant MELA-AU 3 113086570 113086570 single base substitution G A intron_variant MELA-AU 3 113086570 113086570 single base substitution G A upstream_gene_variant MELA-AU 3 113086768 113086768 single base substitution G A intron_variant MELA-AU 3 113086768 113086768 single base substitution G A upstream_gene_variant MELA-AU 3 113086780 113086780 single base substitution C T intron_variant MELA-AU 3 113086780 113086780 single base substitution C T upstream_gene_variant MELA-AU 3 113086878 113086878 single base substitution G A intron_variant MELA-AU 3 113086878 113086878 single base substitution G A upstream_gene_variant MELA-AU 3 113087294 113087294 single base substitution A C intron_variant MELA-AU 3 113087294 113087294 single base substitution A C upstream_gene_variant MELA-AU 3 113087516 113087516 single base substitution G C intron_variant MELA-AU 3 113087516 113087516 single base substitution G C upstream_gene_variant MELA-AU 3 113087858 113087858 single base substitution G T intron_variant MELA-AU 3 113087858 113087858 single base substitution G T upstream_gene_variant MELA-AU 3 113088191 113088191 single base substitution C T intron_variant MELA-AU 3 113088191 113088191 single base substitution C T upstream_gene_variant MELA-AU 3 113089020 113089020 single base substitution C T intron_variant MELA-AU 3 113089020 113089020 single base substitution C T upstream_gene_variant MELA-AU 3 113089239 113089239 single base substitution G A intron_variant MELA-AU 3 113089239 113089239 single base substitution G A upstream_gene_variant MELA-AU 3 113089618 113089618 single base substitution G A intron_variant MELA-AU 3 113089618 113089618 single base substitution G A upstream_gene_variant MELA-AU 3 113089624 113089624 single base substitution A T intron_variant MELA-AU 3 113089624 113089624 single base substitution A T upstream_gene_variant MELA-AU 3 113089917 113089917 single base substitution G A intron_variant MELA-AU 3 113089917 113089917 single base substitution G A upstream_gene_variant MELA-AU 3 113089963 113089963 single base substitution G A intron_variant MELA-AU 3 113089963 113089963 single base substitution G A upstream_gene_variant MELA-AU 3 113090087 113090087 single base substitution C T intron_variant MELA-AU 3 113090323 113090323 single base substitution G A intron_variant MELA-AU 3 113090443 113090443 single base substitution C T intron_variant MELA-AU 3 113090770 113090770 single base substitution G A intron_variant MELA-AU 3 113090819 113090819 single base substitution G A intron_variant MELA-AU 3 113090996 113090996 single base substitution A G intron_variant MELA-AU 3 113091294 113091294 single base substitution G A intron_variant MELA-AU 3 113091643 113091643 single base substitution G A intron_variant MELA-AU 3 113092274 113092274 single base substitution G A intron_variant MELA-AU 3 113092274 113092274 single base substitution G A stop_gained Q810* 2428C>T MELA-AU 3 113092289 113092289 single base substitution C T intron_variant MELA-AU 3 113092289 113092289 single base substitution C T missense_variant E805K 2413G>A MELA-AU 3 113093211 113093214 deletion of <=200bp TTTA - intron_variant MELA-AU 3 113093573 113093573 single base substitution C T intron_variant MELA-AU 3 113093677 113093677 single base substitution T A intron_variant MELA-AU 3 113093887 113093887 single base substitution G A intron_variant MELA-AU 3 113093998 113093998 single base substitution A G intron_variant MELA-AU 3 113094037 113094037 single base substitution G A intron_variant MELA-AU 3 113094141 113094141 single base substitution T A intron_variant MELA-AU 3 113094286 113094286 single base substitution G A intron_variant MELA-AU 3 113095040 113095040 single base substitution G A downstream_gene_variant MELA-AU 3 113095040 113095040 single base substitution G A intron_variant MELA-AU 3 113095095 113095095 single base substitution G A downstream_gene_variant MELA-AU 3 113095095 113095095 single base substitution G A intron_variant MELA-AU 3 113095381 113095381 single base substitution G A downstream_gene_variant MELA-AU 3 113095381 113095381 single base substitution G A intron_variant MELA-AU 3 113095382 113095382 single base substitution G A downstream_gene_variant MELA-AU 3 113095382 113095382 single base substitution G A intron_variant MELA-AU 3 113095584 113095584 single base substitution G A downstream_gene_variant MELA-AU 3 113095584 113095584 single base substitution G A intron_variant MELA-AU 3 113096103 113096103 single base substitution G A downstream_gene_variant MELA-AU 3 113096103 113096103 single base substitution G A intron_variant MELA-AU 3 113097101 113097101 single base substitution G A downstream_gene_variant MELA-AU 3 113097101 113097101 single base substitution G A intron_variant MELA-AU 3 113097386 113097386 single base substitution C T downstream_gene_variant MELA-AU 3 113097386 113097386 single base substitution C T intron_variant MELA-AU 3 113097481 113097481 single base substitution G A downstream_gene_variant MELA-AU 3 113097481 113097481 single base substitution G A intron_variant MELA-AU 3 113097748 113097748 single base substitution G A downstream_gene_variant MELA-AU 3 113097748 113097748 single base substitution G A intron_variant MELA-AU 3 113098197 113098197 single base substitution G A 3_prime_UTR_variant MELA-AU 3 113098197 113098197 single base substitution G A downstream_gene_variant MELA-AU 3 113098197 113098197 single base substitution G A missense_variant L752F 2254C>T MELA-AU 3 113098218 113098218 single base substitution G A 3_prime_UTR_variant MELA-AU 3 113098218 113098218 single base substitution G A downstream_gene_variant MELA-AU 3 113098218 113098218 single base substitution G A missense_variant P745S 2233C>T MELA-AU 3 113098242 113098242 single base substitution C G 3_prime_UTR_variant MELA-AU 3 113098242 113098242 single base substitution C G downstream_gene_variant MELA-AU 3 113098242 113098242 single base substitution C G missense_variant E737Q 2209G>C MELA-AU 3 113099045 113099045 single base substitution C T downstream_gene_variant MELA-AU 3 113099045 113099045 single base substitution C T intron_variant MELA-AU 3 113099086 113099086 single base substitution G A downstream_gene_variant MELA-AU 3 113099086 113099086 single base substitution G A intron_variant MELA-AU 3 113099566 113099566 single base substitution G A downstream_gene_variant MELA-AU 3 113099566 113099566 single base substitution G A intron_variant MELA-AU 3 113099702 113099702 single base substitution G A downstream_gene_variant MELA-AU 3 113099702 113099702 single base substitution G A intron_variant MELA-AU 3 113099768 113099768 single base substitution G A 3_prime_UTR_variant MELA-AU 3 113099768 113099768 single base substitution G A downstream_gene_variant MELA-AU 3 113099768 113099768 single base substitution G A missense_variant S677L 2030C>T MELA-AU 3 113100361 113100361 single base substitution G A intron_variant MELA-AU 3 113101473 113101473 single base substitution G A intron_variant MELA-AU 3 113101511 113101511 single base substitution G A intron_variant MELA-AU 3 113101647 113101647 single base substitution G A intron_variant MELA-AU 3 113101680 113101680 single base substitution C T intron_variant MELA-AU 3 113101720 113101720 single base substitution G A intron_variant MELA-AU 3 113101777 113101777 single base substitution G A intron_variant MELA-AU 3 113102330 113102330 single base substitution G A intron_variant MELA-AU 3 113102934 113102934 single base substitution C G intron_variant MELA-AU 3 113102950 113102950 single base substitution G C intron_variant MELA-AU 3 113103128 113103128 single base substitution G A intron_variant MELA-AU 3 113103770 113103770 single base substitution G A intron_variant MELA-AU 3 113103771 113103771 single base substitution G A intron_variant MELA-AU 3 113103840 113103840 single base substitution G A intron_variant MELA-AU 3 113103945 113103945 single base substitution C T intron_variant MELA-AU 3 113104324 113104324 single base substitution A G intron_variant MELA-AU 3 113104590 113104590 single base substitution G A intron_variant MELA-AU 3 113104666 113104666 single base substitution T C intron_variant MELA-AU 3 113105529 113105529 single base substitution G A intron_variant MELA-AU 3 113105861 113105861 single base substitution G A intron_variant MELA-AU 3 113106156 113106156 single base substitution G A intron_variant MELA-AU 3 113106170 113106170 single base substitution A C intron_variant MELA-AU 3 113106294 113106294 single base substitution G A intron_variant MELA-AU 3 113106309 113106309 single base substitution G A intron_variant MELA-AU 3 113106823 113106823 single base substitution G A intron_variant MELA-AU 3 113106826 113106826 single base substitution G A intron_variant MELA-AU 3 113106955 113106955 single base substitution G A intron_variant MELA-AU 3 113106990 113106990 single base substitution G A intron_variant MELA-AU 3 113107190 113107190 single base substitution G A intron_variant MELA-AU 3 113107414 113107414 single base substitution G A intron_variant MELA-AU 3 113107420 113107420 single base substitution A G intron_variant MELA-AU 3 113107476 113107476 single base substitution G A intron_variant MELA-AU 3 113107941 113107941 single base substitution G A intron_variant MELA-AU 3 113108064 113108064 single base substitution G A intron_variant MELA-AU 3 113108064 113108065 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 113108135 113108135 single base substitution G T intron_variant MELA-AU 3 113108383 113108383 single base substitution G A intron_variant MELA-AU 3 113108806 113108806 single base substitution G A intron_variant MELA-AU 3 113109019 113109019 single base substitution G A intron_variant MELA-AU 3 113109136 113109136 single base substitution T C intron_variant MELA-AU 3 113109358 113109358 single base substitution A G intron_variant MELA-AU 3 113109688 113109688 single base substitution G A intron_variant MELA-AU 3 113110242 113110242 single base substitution G A intron_variant MELA-AU 3 113110377 113110377 single base substitution G A intron_variant MELA-AU 3 113110664 113110664 single base substitution G A intron_variant MELA-AU 3 113110790 113110790 single base substitution G A intron_variant MELA-AU 3 113110809 113110809 single base substitution C G intron_variant MELA-AU 3 113110885 113110885 single base substitution T A intron_variant MELA-AU 3 113111097 113111097 single base substitution A G intron_variant MELA-AU 3 113111232 113111232 single base substitution G A intron_variant MELA-AU 3 113111473 113111473 single base substitution G A intron_variant MELA-AU 3 113111721 113111721 single base substitution G A intron_variant MELA-AU 3 113111842 113111842 single base substitution C T intron_variant MELA-AU 3 113112198 113112198 single base substitution G A intron_variant MELA-AU 3 113112280 113112280 single base substitution G A intron_variant MELA-AU 3 113112466 113112466 single base substitution G A intron_variant MELA-AU 3 113112516 113112516 single base substitution C T intron_variant MELA-AU 3 113112785 113112785 single base substitution C T intron_variant MELA-AU 3 113113005 113113005 single base substitution C G intron_variant MELA-AU 3 113113567 113113567 single base substitution G A intron_variant MELA-AU 3 113114380 113114380 single base substitution G T downstream_gene_variant MELA-AU 3 113114380 113114380 single base substitution G T intron_variant MELA-AU 3 113114497 113114497 single base substitution G A downstream_gene_variant MELA-AU 3 113114497 113114497 single base substitution G A intron_variant MELA-AU 3 113114561 113114561 single base substitution G A downstream_gene_variant MELA-AU 3 113114561 113114561 single base substitution G A intron_variant MELA-AU 3 113114606 113114606 single base substitution G A 3_prime_UTR_variant MELA-AU 3 113114606 113114606 single base substitution G A downstream_gene_variant MELA-AU 3 113114606 113114606 single base substitution G A exon_variant MELA-AU 3 113114606 113114606 single base substitution G A synonymous_variant P627P 1881C>T MELA-AU 3 113114713 113114713 single base substitution G A downstream_gene_variant MELA-AU 3 113114713 113114713 single base substitution G A splice_region_variant MELA-AU 3 113114749 113114749 single base substitution G A downstream_gene_variant MELA-AU 3 113114749 113114749 single base substitution G A intron_variant MELA-AU 3 113115269 113115269 single base substitution G A downstream_gene_variant MELA-AU 3 113115269 113115269 single base substitution G A intron_variant MELA-AU 3 113115420 113115420 single base substitution G A 3_prime_UTR_variant MELA-AU 3 113115420 113115420 single base substitution G A downstream_gene_variant MELA-AU 3 113115420 113115420 single base substitution G A exon_variant MELA-AU 3 113115420 113115420 single base substitution G A missense_variant T575I 1724C>T MELA-AU 3 113115760 113115760 single base substitution G A downstream_gene_variant MELA-AU 3 113115760 113115760 single base substitution G A intron_variant MELA-AU 3 113116328 113116328 single base substitution G A downstream_gene_variant MELA-AU 3 113116328 113116328 single base substitution G A intron_variant MELA-AU 3 113116328 113116328 single base substitution G A upstream_gene_variant MELA-AU 3 113116564 113116564 single base substitution G A downstream_gene_variant MELA-AU 3 113116564 113116564 single base substitution G A intron_variant MELA-AU 3 113116564 113116564 single base substitution G A upstream_gene_variant MELA-AU 3 113116725 113116725 single base substitution G A downstream_gene_variant MELA-AU 3 113116725 113116725 single base substitution G A intron_variant MELA-AU 3 113116725 113116725 single base substitution G A upstream_gene_variant MELA-AU 3 113116905 113116905 single base substitution G A downstream_gene_variant MELA-AU 3 113116905 113116905 single base substitution G A intron_variant MELA-AU 3 113116905 113116905 single base substitution G A upstream_gene_variant MELA-AU 3 113117131 113117131 single base substitution G A downstream_gene_variant MELA-AU 3 113117131 113117131 single base substitution G A intron_variant MELA-AU 3 113117131 113117131 single base substitution G A upstream_gene_variant MELA-AU 3 113117183 113117184 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 113117183 113117184 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 113117183 113117184 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 113117257 113117258 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 113117257 113117258 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 113117257 113117258 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 113117596 113117596 single base substitution G A downstream_gene_variant MELA-AU 3 113117596 113117596 single base substitution G A intron_variant MELA-AU 3 113117596 113117596 single base substitution G A upstream_gene_variant MELA-AU 3 113118154 113118154 single base substitution G T downstream_gene_variant MELA-AU 3 113118154 113118154 single base substitution G T intron_variant MELA-AU 3 113118154 113118154 single base substitution G T upstream_gene_variant MELA-AU 3 113118458 113118458 single base substitution A G downstream_gene_variant MELA-AU 3 113118458 113118458 single base substitution A G intron_variant MELA-AU 3 113118458 113118458 single base substitution A G upstream_gene_variant MELA-AU 3 113118503 113118503 single base substitution G A downstream_gene_variant MELA-AU 3 113118503 113118503 single base substitution G A intron_variant MELA-AU 3 113118503 113118503 single base substitution G A upstream_gene_variant MELA-AU 3 113119288 113119288 single base substitution T C downstream_gene_variant MELA-AU 3 113119288 113119288 single base substitution T C intron_variant MELA-AU 3 113119288 113119288 single base substitution T C upstream_gene_variant MELA-AU 3 113119299 113119299 single base substitution C T downstream_gene_variant MELA-AU 3 113119299 113119299 single base substitution C T intron_variant MELA-AU 3 113119299 113119299 single base substitution C T upstream_gene_variant MELA-AU 3 113120074 113120074 single base substitution A T downstream_gene_variant MELA-AU 3 113120074 113120074 single base substitution A T intron_variant MELA-AU 3 113120074 113120074 single base substitution A T upstream_gene_variant MELA-AU 3 113120184 113120184 single base substitution A T downstream_gene_variant MELA-AU 3 113120184 113120184 single base substitution A T intron_variant MELA-AU 3 113120184 113120184 single base substitution A T upstream_gene_variant MELA-AU 3 113120439 113120439 single base substitution A G 3_prime_UTR_variant MELA-AU 3 113120439 113120439 single base substitution A G downstream_gene_variant MELA-AU 3 113120439 113120439 single base substitution A G intron_variant MELA-AU 3 113120439 113120439 single base substitution A G synonymous_variant L440L 1318T>C MELA-AU 3 113120439 113120439 single base substitution A G upstream_gene_variant MELA-AU 3 113121007 113121007 single base substitution T C downstream_gene_variant MELA-AU 3 113121007 113121007 single base substitution T C intron_variant MELA-AU 3 113121007 113121007 single base substitution T C upstream_gene_variant MELA-AU 3 113121210 113121210 single base substitution G A downstream_gene_variant MELA-AU 3 113121210 113121210 single base substitution G A intron_variant MELA-AU 3 113121451 113121451 single base substitution G A downstream_gene_variant MELA-AU 3 113121451 113121451 single base substitution G A intron_variant MELA-AU 3 113121452 113121452 single base substitution G A downstream_gene_variant MELA-AU 3 113121452 113121452 single base substitution G A intron_variant MELA-AU 3 113121504 113121504 single base substitution A G downstream_gene_variant MELA-AU 3 113121504 113121504 single base substitution A G intron_variant MELA-AU 3 113121523 113121523 single base substitution G A downstream_gene_variant MELA-AU 3 113121523 113121523 single base substitution G A intron_variant MELA-AU 3 113121550 113121550 single base substitution G A downstream_gene_variant MELA-AU 3 113121550 113121550 single base substitution G A intron_variant MELA-AU 3 113122432 113122432 single base substitution G A downstream_gene_variant MELA-AU 3 113122432 113122432 single base substitution G A intron_variant MELA-AU 3 113122474 113122474 single base substitution A C downstream_gene_variant MELA-AU 3 113122474 113122474 single base substitution A C intron_variant MELA-AU 3 113122810 113122810 single base substitution G A 3_prime_UTR_variant MELA-AU 3 113122810 113122810 single base substitution G A downstream_gene_variant MELA-AU 3 113122810 113122810 single base substitution G A synonymous_variant I353I 1059C>T MELA-AU 3 113122810 113122810 single base substitution G A upstream_gene_variant MELA-AU 3 113122820 113122821 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 3 113122820 113122821 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 113122820 113122821 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant G350N 1048GG>AA MELA-AU 3 113122820 113122821 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 113122938 113122938 single base substitution G A intron_variant MELA-AU 3 113122938 113122938 single base substitution G A upstream_gene_variant MELA-AU 3 113123132 113123132 single base substitution T C intron_variant MELA-AU 3 113123132 113123132 single base substitution T C upstream_gene_variant MELA-AU 3 113123848 113123848 single base substitution G A intron_variant MELA-AU 3 113123848 113123848 single base substitution G A upstream_gene_variant MELA-AU 3 113123866 113123866 single base substitution G A intron_variant MELA-AU 3 113123866 113123866 single base substitution G A upstream_gene_variant MELA-AU 3 113124656 113124656 single base substitution C T intron_variant MELA-AU 3 113124656 113124656 single base substitution C T upstream_gene_variant MELA-AU 3 113124749 113124749 single base substitution G C intron_variant MELA-AU 3 113124749 113124749 single base substitution G C upstream_gene_variant MELA-AU 3 113125169 113125169 single base substitution G A intron_variant MELA-AU 3 113125169 113125169 single base substitution G A upstream_gene_variant MELA-AU 3 113125602 113125602 single base substitution C T intron_variant MELA-AU 3 113125602 113125602 single base substitution C T upstream_gene_variant MELA-AU 3 113126051 113126051 single base substitution G A intron_variant MELA-AU 3 113126051 113126051 single base substitution G A upstream_gene_variant MELA-AU 3 113126939 113126939 single base substitution C T intron_variant MELA-AU 3 113126939 113126939 single base substitution C T upstream_gene_variant MELA-AU 3 113127347 113127347 single base substitution T C intron_variant MELA-AU 3 113127347 113127347 single base substitution T C upstream_gene_variant MELA-AU 3 113127728 113127728 single base substitution A G intron_variant MELA-AU 3 113127753 113127753 single base substitution T A intron_variant MELA-AU 3 113128208 113128208 single base substitution T A intron_variant MELA-AU 3 113128942 113128942 single base substitution C T intron_variant MELA-AU 3 113129160 113129160 single base substitution G A intron_variant MELA-AU 3 113129315 113129315 single base substitution G A intron_variant MELA-AU 3 113129321 113129321 single base substitution G A intron_variant MELA-AU 3 113129546 113129546 single base substitution T G intron_variant MELA-AU 3 113130492 113130492 single base substitution G A intron_variant MELA-AU 3 113130502 113130502 single base substitution G A intron_variant MELA-AU 3 113131057 113131057 single base substitution A C intron_variant MELA-AU 3 113131059 113131059 single base substitution G A intron_variant MELA-AU 3 113132063 113132063 single base substitution G A intron_variant MELA-AU 3 113132349 113132349 single base substitution G A intron_variant MELA-AU 3 113132471 113132471 single base substitution G A intron_variant MELA-AU 3 113132502 113132502 single base substitution G A intron_variant MELA-AU 3 113132537 113132537 single base substitution G A intron_variant MELA-AU 3 113132634 113132634 single base substitution G A intron_variant MELA-AU 3 113133252 113133252 single base substitution G A intron_variant MELA-AU 3 113133370 113133370 single base substitution A G intron_variant MELA-AU 3 113133772 113133772 single base substitution C T intron_variant MELA-AU 3 113133908 113133908 single base substitution G A intron_variant MELA-AU 3 113134315 113134315 single base substitution G A intron_variant MELA-AU 3 113134487 113134487 single base substitution C G intron_variant MELA-AU 3 113134699 113134699 single base substitution G A intron_variant MELA-AU 3 113134834 113134834 single base substitution G A intron_variant MELA-AU 3 113136318 113136318 single base substitution A T intron_variant MELA-AU 3 113136692 113136692 single base substitution G A intron_variant MELA-AU 3 113136697 113136697 single base substitution G A intron_variant MELA-AU 3 113137298 113137298 single base substitution G A intron_variant MELA-AU 3 113137433 113137433 single base substitution G A intron_variant MELA-AU 3 113137767 113137767 single base substitution G A intron_variant MELA-AU 3 113138382 113138382 single base substitution G A intron_variant MELA-AU 3 113138825 113138826 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 113138836 113138836 single base substitution G T intron_variant MELA-AU 3 113139045 113139045 single base substitution G A intron_variant MELA-AU 3 113139075 113139075 single base substitution G A intron_variant MELA-AU 3 113139427 113139427 single base substitution A T intron_variant MELA-AU 3 113139453 113139453 single base substitution G A intron_variant MELA-AU 3 113139931 113139931 single base substitution C T downstream_gene_variant MELA-AU 3 113139931 113139931 single base substitution C T intron_variant MELA-AU 3 113140280 113140280 single base substitution G A downstream_gene_variant MELA-AU 3 113140280 113140280 single base substitution G A intron_variant MELA-AU 3 113140463 113140463 single base substitution G A downstream_gene_variant MELA-AU 3 113140463 113140463 single base substitution G A intron_variant MELA-AU 3 113140550 113140550 single base substitution G A downstream_gene_variant MELA-AU 3 113140550 113140550 single base substitution G A intron_variant MELA-AU 3 113140692 113140692 single base substitution G A downstream_gene_variant MELA-AU 3 113140692 113140692 single base substitution G A intron_variant MELA-AU 3 113141087 113141087 single base substitution G A downstream_gene_variant MELA-AU 3 113141087 113141087 single base substitution G A intron_variant MELA-AU 3 113142053 113142053 single base substitution C T downstream_gene_variant MELA-AU 3 113142053 113142053 single base substitution C T intron_variant MELA-AU 3 113142457 113142457 single base substitution C T downstream_gene_variant MELA-AU 3 113142457 113142457 single base substitution C T intron_variant MELA-AU 3 113143472 113143473 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 113143472 113143473 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 113143629 113143629 single base substitution G A downstream_gene_variant MELA-AU 3 113143629 113143629 single base substitution G A intron_variant MELA-AU 3 113143633 113143633 single base substitution A T downstream_gene_variant MELA-AU 3 113143633 113143633 single base substitution A T intron_variant MELA-AU 3 113143659 113143659 single base substitution G A downstream_gene_variant MELA-AU 3 113143659 113143659 single base substitution G A intron_variant MELA-AU 3 113143850 113143850 single base substitution G A downstream_gene_variant MELA-AU 3 113143850 113143850 single base substitution G A intron_variant MELA-AU 3 113143957 113143957 single base substitution G A downstream_gene_variant MELA-AU 3 113143957 113143957 single base substitution G A intron_variant MELA-AU 3 113144437 113144437 single base substitution G A downstream_gene_variant MELA-AU 3 113144437 113144437 single base substitution G A intron_variant MELA-AU 3 113144931 113144931 single base substitution G A downstream_gene_variant MELA-AU 3 113144931 113144931 single base substitution G A exon_variant MELA-AU 3 113144931 113144931 single base substitution G A intron_variant MELA-AU 3 113145204 113145204 single base substitution C G downstream_gene_variant MELA-AU 3 113145204 113145204 single base substitution C G intron_variant MELA-AU 3 113145257 113145257 insertion of <=200bp - T downstream_gene_variant MELA-AU 3 113145257 113145257 insertion of <=200bp - T intron_variant MELA-AU 3 113145326 113145326 single base substitution G A downstream_gene_variant MELA-AU 3 113145326 113145326 single base substitution G A intron_variant MELA-AU 3 113146343 113146343 single base substitution A T intron_variant MELA-AU 3 113147229 113147230 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 113147254 113147254 single base substitution G C intron_variant MELA-AU 3 113147292 113147292 single base substitution G A intron_variant MELA-AU 3 113147336 113147337 multiple base substitution (>=2bp and <=200bp) CA AT intron_variant MELA-AU 3 113147348 113147348 single base substitution G A intron_variant MELA-AU 3 113148898 113148898 single base substitution A G intron_variant MELA-AU 3 113149086 113149086 single base substitution G A intron_variant MELA-AU 3 113149379 113149379 single base substitution G A intron_variant MELA-AU 3 113149627 113149627 single base substitution G A intron_variant MELA-AU 3 113149871 113149871 single base substitution C T intron_variant MELA-AU 3 113149905 113149905 single base substitution G A intron_variant MELA-AU 3 113150037 113150037 single base substitution G A intron_variant MELA-AU 3 113150737 113150737 single base substitution A G intron_variant MELA-AU 3 113151933 113151933 single base substitution C T intron_variant MELA-AU 3 113152034 113152034 single base substitution G A intron_variant MELA-AU 3 113152053 113152053 single base substitution A T intron_variant MELA-AU 3 113152501 113152501 single base substitution G A exon_variant MELA-AU 3 113152501 113152501 single base substitution G A missense_variant P4L 11C>T MELA-AU 3 113152501 113152501 single base substitution G A upstream_gene_variant MELA-AU 3 113152885 113152885 single base substitution G A intron_variant MELA-AU 3 113152885 113152885 single base substitution G A upstream_gene_variant MELA-AU 3 113152970 113152970 single base substitution A G intron_variant MELA-AU 3 113152970 113152970 single base substitution A G upstream_gene_variant MELA-AU 3 113153066 113153066 single base substitution G A intron_variant MELA-AU 3 113153066 113153066 single base substitution G A upstream_gene_variant MELA-AU 3 113153261 113153261 single base substitution G A intron_variant MELA-AU 3 113153261 113153261 single base substitution G A upstream_gene_variant MELA-AU 3 113153422 113153422 single base substitution A T 5_prime_UTR_variant MELA-AU 3 113153422 113153422 single base substitution A T intron_variant MELA-AU 3 113153422 113153422 single base substitution A T upstream_gene_variant MELA-AU 3 113154171 113154171 single base substitution G A intron_variant MELA-AU 3 113154171 113154171 single base substitution G A upstream_gene_variant MELA-AU 3 113154761 113154761 single base substitution A T intron_variant MELA-AU 3 113154761 113154761 single base substitution A T upstream_gene_variant MELA-AU 3 113155436 113155436 single base substitution C T intron_variant MELA-AU 3 113155436 113155436 single base substitution C T upstream_gene_variant MELA-AU 3 113155565 113155565 single base substitution G A intron_variant MELA-AU 3 113155565 113155565 single base substitution G A upstream_gene_variant MELA-AU 3 113155855 113155855 single base substitution G A intron_variant MELA-AU 3 113155855 113155855 single base substitution G A upstream_gene_variant MELA-AU 3 113156197 113156197 single base substitution C G intron_variant MELA-AU 3 113156197 113156197 single base substitution C G upstream_gene_variant MELA-AU 3 113156434 113156434 single base substitution A T intron_variant MELA-AU 3 113156434 113156434 single base substitution A T upstream_gene_variant MELA-AU 3 113156482 113156482 single base substitution G A intron_variant MELA-AU 3 113156482 113156482 single base substitution G A upstream_gene_variant MELA-AU 3 113156638 113156638 single base substitution G A intron_variant MELA-AU 3 113156638 113156638 single base substitution G A upstream_gene_variant MELA-AU 3 113157303 113157303 single base substitution C T intron_variant MELA-AU 3 113157303 113157303 single base substitution C T upstream_gene_variant MELA-AU 3 113157328 113157328 single base substitution G A intron_variant MELA-AU 3 113157328 113157328 single base substitution G A upstream_gene_variant MELA-AU 3 113157668 113157668 single base substitution G C intron_variant MELA-AU 3 113157668 113157668 single base substitution G C upstream_gene_variant MELA-AU 3 113158146 113158146 single base substitution G A intron_variant MELA-AU 3 113158146 113158146 single base substitution G A upstream_gene_variant MELA-AU 3 113158786 113158786 deletion of <=200bp A - intron_variant MELA-AU 3 113158786 113158786 deletion of <=200bp A - upstream_gene_variant MELA-AU 3 113159637 113159637 single base substitution T C intron_variant MELA-AU 3 113160344 113160344 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 3 113160344 113160344 single base substitution G A exon_variant MELA-AU 3 113160452 113160452 single base substitution G A 5_prime_UTR_variant MELA-AU 3 113160452 113160452 single base substitution G A upstream_gene_variant MELA-AU 3 113160736 113160736 single base substitution G A upstream_gene_variant MELA-AU 3 113161141 113161141 single base substitution G A upstream_gene_variant MELA-AU 3 113161742 113161742 single base substitution G A upstream_gene_variant MELA-AU 3 113161811 113161811 single base substitution A G upstream_gene_variant MELA-AU 3 113162163 113162163 single base substitution C T upstream_gene_variant MELA-AU 3 113162442 113162442 single base substitution C A upstream_gene_variant MELA-AU 3 113163131 113163131 single base substitution G A upstream_gene_variant MELA-AU 3 113163593 113163593 single base substitution T C upstream_gene_variant MELA-AU 3 113163855 113163855 single base substitution A G upstream_gene_variant MELA-AU 3 113164416 113164416 single base substitution G A upstream_gene_variant MELA-AU 3 113164483 113164483 single base substitution G A upstream_gene_variant ORCA-IN 3 113007463 113007463 single base substitution C A 3_prime_UTR_variant ORCA-IN 3 113007463 113007463 single base substitution C A downstream_gene_variant ORCA-IN 3 113025072 113025072 single base substitution C G exon_variant ORCA-IN 3 113025072 113025072 single base substitution C G missense_variant K1578N 4734G>C ORCA-IN 3 113025072 113025072 single base substitution C G missense_variant K181N 543G>C ORCA-IN 3 113025072 113025072 single base substitution C G missense_variant K714N 2142G>C ORCA-IN 3 113025072 113025072 single base substitution C G upstream_gene_variant ORCA-IN 3 113029741 113029741 single base substitution G C intron_variant ORCA-IN 3 113038803 113038803 single base substitution G A intron_variant ORCA-IN 3 113039579 113039579 single base substitution G A intron_variant ORCA-IN 3 113044331 113044331 single base substitution G A intron_variant ORCA-IN 3 113060303 113060303 single base substitution G C intron_variant ORCA-IN 3 113063526 113063526 single base substitution C A intron_variant ORCA-IN 3 113063526 113063526 single base substitution C A synonymous_variant V1033V 3099G>T ORCA-IN 3 113063526 113063526 single base substitution C A synonymous_variant V169V 507G>T ORCA-IN 3 113146661 113146661 single base substitution C T intron_variant ORCA-IN 3 113156051 113156051 single base substitution T A intron_variant ORCA-IN 3 113156051 113156051 single base substitution T A upstream_gene_variant OV-AU 3 113003675 113003675 single base substitution G C downstream_gene_variant OV-AU 3 113019499 113019499 single base substitution T A intron_variant OV-AU 3 113022250 113022250 single base substitution A G intron_variant OV-AU 3 113024835 113024835 single base substitution G T intron_variant OV-AU 3 113024835 113024835 single base substitution G T upstream_gene_variant OV-AU 3 113024836 113024836 single base substitution T A intron_variant OV-AU 3 113024836 113024836 single base substitution T A upstream_gene_variant OV-AU 3 113036102 113036102 single base substitution C T intron_variant OV-AU 3 113041842 113041842 single base substitution C T intron_variant OV-AU 3 113049099 113049099 single base substitution T C downstream_gene_variant OV-AU 3 113049099 113049099 single base substitution T C synonymous_variant K1344K 4032A>G OV-AU 3 113049099 113049099 single base substitution T C synonymous_variant K480K 1440A>G OV-AU 3 113049099 113049099 single base substitution T C upstream_gene_variant OV-AU 3 113050061 113050061 single base substitution G T downstream_gene_variant OV-AU 3 113050061 113050061 single base substitution G T intron_variant OV-AU 3 113050061 113050061 single base substitution G T upstream_gene_variant OV-AU 3 113056152 113056152 single base substitution A G intron_variant OV-AU 3 113066719 113066719 single base substitution G C intron_variant OV-AU 3 113083112 113083112 single base substitution A G intron_variant OV-AU 3 113083112 113083112 single base substitution A G upstream_gene_variant OV-AU 3 113093998 113093998 single base substitution A G intron_variant OV-AU 3 113096101 113096101 single base substitution C T downstream_gene_variant OV-AU 3 113096101 113096101 single base substitution C T intron_variant OV-AU 3 113096556 113096556 single base substitution G A downstream_gene_variant OV-AU 3 113096556 113096556 single base substitution G A intron_variant OV-AU 3 113096936 113096936 single base substitution T C downstream_gene_variant OV-AU 3 113096936 113096936 single base substitution T C intron_variant OV-AU 3 113105211 113105211 single base substitution A G intron_variant OV-AU 3 113107744 113107744 single base substitution G C intron_variant OV-AU 3 113114410 113114410 single base substitution C A downstream_gene_variant OV-AU 3 113114410 113114410 single base substitution C A intron_variant OV-AU 3 113123399 113123399 single base substitution C A intron_variant OV-AU 3 113123399 113123399 single base substitution C A upstream_gene_variant OV-AU 3 113123762 113123762 single base substitution A G intron_variant OV-AU 3 113123762 113123762 single base substitution A G upstream_gene_variant OV-AU 3 113128736 113128736 single base substitution G A intron_variant OV-AU 3 113143262 113143262 single base substitution G A downstream_gene_variant OV-AU 3 113143262 113143262 single base substitution G A intron_variant OV-AU 3 113148640 113148640 single base substitution G T intron_variant OV-AU 3 113162079 113162079 single base substitution T A upstream_gene_variant OV-AU 3 113165325 113165325 single base substitution T A upstream_gene_variant PACA-AU 3 113001142 113001142 single base substitution T C downstream_gene_variant PACA-AU 3 113004010 113004010 single base substitution C T downstream_gene_variant PACA-AU 3 113005674 113005674 single base substitution C T downstream_gene_variant PACA-AU 3 113008190 113008190 single base substitution G A 3_prime_UTR_variant PACA-AU 3 113008190 113008190 single base substitution G A downstream_gene_variant PACA-AU 3 113009352 113009352 insertion of <=200bp - T 3_prime_UTR_variant PACA-AU 3 113009352 113009352 insertion of <=200bp - T downstream_gene_variant PACA-AU 3 113016506 113016506 single base substitution C A intron_variant PACA-AU 3 113016506 113016506 single base substitution C A upstream_gene_variant PACA-AU 3 113017507 113017507 single base substitution A C intron_variant PACA-AU 3 113017507 113017507 single base substitution A C upstream_gene_variant PACA-AU 3 113023030 113023030 single base substitution C T exon_variant PACA-AU 3 113023030 113023030 single base substitution C T intron_variant PACA-AU 3 113023030 113023030 single base substitution C T upstream_gene_variant PACA-AU 3 113030054 113030054 single base substitution A C intron_variant PACA-AU 3 113032365 113032365 single base substitution A G intron_variant PACA-AU 3 113033177 113033177 single base substitution G T intron_variant PACA-AU 3 113037995 113037995 single base substitution A C intron_variant PACA-AU 3 113039261 113039261 single base substitution G A intron_variant PACA-AU 3 113042195 113042195 single base substitution C T intron_variant PACA-AU 3 113044669 113044669 single base substitution C T intron_variant PACA-AU 3 113049675 113049675 single base substitution A C downstream_gene_variant PACA-AU 3 113049675 113049675 single base substitution A C intron_variant PACA-AU 3 113049675 113049675 single base substitution A C upstream_gene_variant PACA-AU 3 113052966 113052966 single base substitution T C intron_variant PACA-AU 3 113054596 113054596 single base substitution T A intron_variant PACA-AU 3 113059213 113059213 single base substitution G A intron_variant PACA-AU 3 113068319 113068319 single base substitution C T intron_variant PACA-AU 3 113071326 113071326 single base substitution G A intron_variant PACA-AU 3 113072153 113072153 single base substitution A C intron_variant PACA-AU 3 113076614 113076614 single base substitution C G intron_variant PACA-AU 3 113079596 113079596 single base substitution C A downstream_gene_variant PACA-AU 3 113079596 113079596 single base substitution C A intron_variant PACA-AU 3 113083774 113083774 single base substitution A T intron_variant PACA-AU 3 113083774 113083774 single base substitution A T upstream_gene_variant PACA-AU 3 113086803 113086803 single base substitution T C intron_variant PACA-AU 3 113086803 113086803 single base substitution T C upstream_gene_variant PACA-AU 3 113086804 113086804 single base substitution A G intron_variant PACA-AU 3 113086804 113086804 single base substitution A G upstream_gene_variant PACA-AU 3 113091696 113091696 single base substitution G A intron_variant PACA-AU 3 113092241 113092241 single base substitution T C intron_variant PACA-AU 3 113092316 113092316 single base substitution T C intron_variant PACA-AU 3 113092316 113092316 single base substitution T C missense_variant I796V 2386A>G PACA-AU 3 113093138 113093138 insertion of <=200bp - A intron_variant PACA-AU 3 113093242 113093242 single base substitution A C intron_variant PACA-AU 3 113093998 113093998 single base substitution A G intron_variant PACA-AU 3 113096316 113096316 insertion of <=200bp - TTT downstream_gene_variant PACA-AU 3 113096316 113096316 insertion of <=200bp - TTT intron_variant PACA-AU 3 113097896 113097896 deletion of <=200bp T - downstream_gene_variant PACA-AU 3 113097896 113097896 deletion of <=200bp T - intron_variant PACA-AU 3 113100808 113100808 single base substitution G T intron_variant PACA-AU 3 113102827 113102827 single base substitution T C intron_variant PACA-AU 3 113106505 113106505 single base substitution A G intron_variant PACA-AU 3 113125867 113125867 single base substitution C T 3_prime_UTR_variant PACA-AU 3 113125867 113125867 single base substitution C T synonymous_variant T304T 912G>A PACA-AU 3 113125867 113125867 single base substitution C T upstream_gene_variant PACA-AU 3 113130029 113130029 single base substitution G A intron_variant PACA-AU 3 113132219 113132219 single base substitution A C intron_variant PACA-AU 3 113132855 113132855 single base substitution G A intron_variant PACA-AU 3 113143835 113143835 single base substitution C A downstream_gene_variant PACA-AU 3 113143835 113143835 single base substitution C A intron_variant PACA-AU 3 113145530 113145530 single base substitution G C downstream_gene_variant PACA-AU 3 113145530 113145530 single base substitution G C intron_variant PACA-AU 3 113148529 113148529 single base substitution A C intron_variant PACA-CA 3 113002179 113002204 deletion of <=200bp GGGGTATTTTTTTTTCTATTTGTTGT - downstream_gene_variant PACA-CA 3 113002346 113002346 single base substitution G A downstream_gene_variant PACA-CA 3 113003718 113003718 single base substitution C A downstream_gene_variant PACA-CA 3 113005539 113005539 single base substitution G C downstream_gene_variant PACA-CA 3 113005753 113005753 single base substitution T A downstream_gene_variant PACA-CA 3 113005755 113005755 single base substitution A T downstream_gene_variant PACA-CA 3 113006929 113006929 single base substitution T G 3_prime_UTR_variant PACA-CA 3 113006929 113006929 single base substitution T G downstream_gene_variant PACA-CA 3 113010529 113010529 single base substitution G C 3_prime_UTR_variant PACA-CA 3 113010529 113010529 single base substitution G C downstream_gene_variant PACA-CA 3 113010529 113010529 single base substitution G C exon_variant PACA-CA 3 113010529 113010529 single base substitution G C missense_variant Q1814E 5440C>G PACA-CA 3 113010529 113010529 single base substitution G C missense_variant Q950E 2848C>G PACA-CA 3 113012199 113012199 single base substitution A C downstream_gene_variant PACA-CA 3 113012199 113012199 single base substitution A C intron_variant PACA-CA 3 113015660 113015660 single base substitution G A 3_prime_UTR_variant PACA-CA 3 113015660 113015660 single base substitution G A exon_variant PACA-CA 3 113015660 113015660 single base substitution G A missense_variant T1717M 5150C>T PACA-CA 3 113015660 113015660 single base substitution G A missense_variant T320M 959C>T PACA-CA 3 113015660 113015660 single base substitution G A missense_variant T853M 2558C>T PACA-CA 3 113015660 113015660 single base substitution G A upstream_gene_variant PACA-CA 3 113020351 113020351 single base substitution C G intron_variant PACA-CA 3 113020678 113020678 single base substitution T G intron_variant PACA-CA 3 113021411 113021411 single base substitution A G intron_variant PACA-CA 3 113030457 113030457 single base substitution A G intron_variant PACA-CA 3 113032394 113032394 single base substitution C T intron_variant PACA-CA 3 113032764 113032764 single base substitution A G intron_variant PACA-CA 3 113035482 113035482 single base substitution G A intron_variant PACA-CA 3 113037050 113037050 single base substitution G A intron_variant PACA-CA 3 113041447 113041447 single base substitution A G intron_variant PACA-CA 3 113043385 113043385 single base substitution G A intron_variant PACA-CA 3 113046197 113046197 single base substitution T C intron_variant PACA-CA 3 113051214 113051214 single base substitution C T downstream_gene_variant PACA-CA 3 113051214 113051214 single base substitution C T intron_variant PACA-CA 3 113051214 113051214 single base substitution C T upstream_gene_variant PACA-CA 3 113052333 113052333 single base substitution C A 3_prime_UTR_variant PACA-CA 3 113052333 113052333 single base substitution C A missense_variant A1179S 3535G>T PACA-CA 3 113052333 113052333 single base substitution C A missense_variant A315S 943G>T PACA-CA 3 113061536 113061536 single base substitution T A intron_variant PACA-CA 3 113062587 113062587 single base substitution G C intron_variant PACA-CA 3 113063097 113063097 single base substitution G A intron_variant PACA-CA 3 113064991 113064991 single base substitution C T intron_variant PACA-CA 3 113065226 113065226 single base substitution C T intron_variant PACA-CA 3 113073059 113073059 single base substitution G C intron_variant PACA-CA 3 113074740 113074740 single base substitution G A intron_variant PACA-CA 3 113075089 113075089 single base substitution A T intron_variant PACA-CA 3 113077320 113077320 single base substitution A G downstream_gene_variant PACA-CA 3 113077320 113077320 single base substitution A G intron_variant PACA-CA 3 113078376 113078376 single base substitution T G downstream_gene_variant PACA-CA 3 113078376 113078376 single base substitution T G intron_variant PACA-CA 3 113079561 113079561 single base substitution G A downstream_gene_variant PACA-CA 3 113079561 113079561 single base substitution G A intron_variant PACA-CA 3 113080510 113080510 deletion of <=200bp T - downstream_gene_variant PACA-CA 3 113080510 113080510 deletion of <=200bp T - intron_variant PACA-CA 3 113082966 113082966 single base substitution T G intron_variant PACA-CA 3 113082966 113082966 single base substitution T G upstream_gene_variant PACA-CA 3 113083412 113083412 single base substitution G T intron_variant PACA-CA 3 113083412 113083412 single base substitution G T upstream_gene_variant PACA-CA 3 113083495 113083495 single base substitution G A intron_variant PACA-CA 3 113083495 113083495 single base substitution G A upstream_gene_variant PACA-CA 3 113083774 113083774 single base substitution A T intron_variant PACA-CA 3 113083774 113083774 single base substitution A T upstream_gene_variant PACA-CA 3 113084166 113084166 single base substitution G A intron_variant PACA-CA 3 113084166 113084166 single base substitution G A upstream_gene_variant PACA-CA 3 113087837 113087837 single base substitution A C intron_variant PACA-CA 3 113087837 113087837 single base substitution A C upstream_gene_variant PACA-CA 3 113102763 113102763 single base substitution C A intron_variant PACA-CA 3 113105413 113105413 single base substitution T C intron_variant PACA-CA 3 113107458 113107458 insertion of <=200bp - A intron_variant PACA-CA 3 113108058 113108058 single base substitution T C intron_variant PACA-CA 3 113108813 113108813 single base substitution G A intron_variant PACA-CA 3 113111701 113111701 insertion of <=200bp - A intron_variant PACA-CA 3 113122592 113122592 single base substitution G T downstream_gene_variant PACA-CA 3 113122592 113122592 single base substitution G T intron_variant PACA-CA 3 113122831 113122831 single base substitution C T 3_prime_UTR_variant PACA-CA 3 113122831 113122831 single base substitution C T downstream_gene_variant PACA-CA 3 113122831 113122831 single base substitution C T synonymous_variant L346L 1038G>A PACA-CA 3 113122831 113122831 single base substitution C T upstream_gene_variant PACA-CA 3 113125984 113126007 deletion of <=200bp TATTATTTCATTCATTCATTCATT - intron_variant PACA-CA 3 113125984 113126007 deletion of <=200bp TATTATTTCATTCATTCATTCATT - upstream_gene_variant PACA-CA 3 113136904 113136904 insertion of <=200bp - ATTTATTT intron_variant PACA-CA 3 113142644 113142644 single base substitution G C downstream_gene_variant PACA-CA 3 113142644 113142644 single base substitution G C intron_variant PACA-CA 3 113143531 113143531 single base substitution G C downstream_gene_variant PACA-CA 3 113143531 113143531 single base substitution G C intron_variant PACA-CA 3 113144207 113144207 single base substitution G A downstream_gene_variant PACA-CA 3 113144207 113144207 single base substitution G A intron_variant PACA-CA 3 113150574 113150574 single base substitution C T intron_variant PACA-CA 3 113153376 113153376 single base substitution C T 5_prime_UTR_variant PACA-CA 3 113153376 113153376 single base substitution C T intron_variant PACA-CA 3 113153376 113153376 single base substitution C T upstream_gene_variant PACA-CA 3 113153767 113153767 single base substitution A T 5_prime_UTR_variant PACA-CA 3 113153767 113153767 single base substitution A T intron_variant PACA-CA 3 113153767 113153767 single base substitution A T upstream_gene_variant PACA-CA 3 113155721 113155721 single base substitution G A intron_variant PACA-CA 3 113155721 113155721 single base substitution G A upstream_gene_variant PACA-CA 3 113160468 113160468 single base substitution C T upstream_gene_variant PAEN-AU 3 113013196 113013196 single base substitution G T downstream_gene_variant PAEN-AU 3 113013196 113013196 single base substitution G T exon_variant PAEN-AU 3 113013196 113013196 single base substitution G T intron_variant PAEN-AU 3 113033451 113033451 single base substitution G A intron_variant PAEN-AU 3 113039298 113039298 single base substitution A G intron_variant PAEN-AU 3 113054079 113054079 single base substitution T A intron_variant PAEN-AU 3 113085606 113085606 single base substitution T C intron_variant PAEN-AU 3 113085606 113085606 single base substitution T C upstream_gene_variant PAEN-AU 3 113093211 113093211 insertion of <=200bp - TTTATTTA intron_variant PAEN-IT 3 113043846 113043846 single base substitution T C intron_variant PAEN-IT 3 113083633 113083633 single base substitution C T intron_variant PAEN-IT 3 113083633 113083633 single base substitution C T upstream_gene_variant PAEN-IT 3 113099517 113099517 single base substitution C A downstream_gene_variant PAEN-IT 3 113099517 113099517 single base substitution C A intron_variant PAEN-IT 3 113109070 113109070 single base substitution T A intron_variant PBCA-DE 3 113005809 113005809 single base substitution T C 3_prime_UTR_variant PBCA-DE 3 113005809 113005809 single base substitution T C downstream_gene_variant PBCA-DE 3 113009874 113009874 single base substitution T C 3_prime_UTR_variant PBCA-DE 3 113009874 113009874 single base substitution T C downstream_gene_variant PBCA-DE 3 113026544 113026544 single base substitution C T intron_variant PBCA-DE 3 113026544 113026544 single base substitution C T upstream_gene_variant PBCA-DE 3 113036894 113036894 insertion of <=200bp - T intron_variant PBCA-DE 3 113039072 113039073 deletion of <=200bp TC - intron_variant PBCA-DE 3 113045250 113045250 single base substitution A T intron_variant PBCA-DE 3 113048793 113048793 insertion of <=200bp - A downstream_gene_variant PBCA-DE 3 113048793 113048793 insertion of <=200bp - A intron_variant PBCA-DE 3 113048793 113048793 insertion of <=200bp - A upstream_gene_variant PBCA-DE 3 113053241 113053241 single base substitution T A intron_variant PBCA-DE 3 113057132 113057132 deletion of <=200bp G - intron_variant PBCA-DE 3 113066741 113066741 insertion of <=200bp - G intron_variant PBCA-DE 3 113067014 113067014 deletion of <=200bp C - intron_variant PBCA-DE 3 113069204 113069205 deletion of <=200bp AG - intron_variant PBCA-DE 3 113072614 113072615 deletion of <=200bp AG - intron_variant PBCA-DE 3 113084630 113084630 single base substitution C T intron_variant PBCA-DE 3 113084630 113084630 single base substitution C T upstream_gene_variant PBCA-DE 3 113086230 113086231 deletion of <=200bp TG - intron_variant PBCA-DE 3 113086230 113086231 deletion of <=200bp TG - upstream_gene_variant PBCA-DE 3 113093838 113093838 single base substitution G T intron_variant PBCA-DE 3 113094794 113094794 insertion of <=200bp - A intron_variant PBCA-DE 3 113098035 113098035 insertion of <=200bp - A downstream_gene_variant PBCA-DE 3 113098035 113098035 insertion of <=200bp - A intron_variant PBCA-DE 3 113135408 113135408 single base substitution C G 3_prime_UTR_variant PBCA-DE 3 113135408 113135408 single base substitution C G missense_variant E213Q 637G>C PBCA-DE 3 113136936 113136942 deletion of <=200bp GAGACAC - intron_variant PBCA-DE 3 113136948 113136948 single base substitution A C intron_variant PBCA-DE 3 113141953 113141960 deletion of <=200bp TTTTTTTT - downstream_gene_variant PBCA-DE 3 113141953 113141960 deletion of <=200bp TTTTTTTT - intron_variant PBCA-DE 3 113154706 113154707 deletion of <=200bp GT - intron_variant PBCA-DE 3 113154706 113154707 deletion of <=200bp GT - upstream_gene_variant PBCA-DE 3 113161958 113161958 single base substitution C A upstream_gene_variant PRAD-CA 3 113001706 113001706 single base substitution A G downstream_gene_variant PRAD-CA 3 113003595 113003595 single base substitution G C downstream_gene_variant PRAD-CA 3 113009189 113009189 single base substitution C G 3_prime_UTR_variant PRAD-CA 3 113009189 113009189 single base substitution C G downstream_gene_variant PRAD-CA 3 113026263 113026263 single base substitution T A intron_variant PRAD-CA 3 113026263 113026263 single base substitution T A upstream_gene_variant PRAD-CA 3 113039921 113039921 single base substitution G A intron_variant PRAD-CA 3 113041284 113041284 single base substitution A G intron_variant PRAD-CA 3 113041943 113041943 single base substitution C T intron_variant PRAD-CA 3 113061340 113061340 single base substitution A T intron_variant PRAD-CA 3 113062063 113062063 single base substitution C T intron_variant PRAD-CA 3 113062986 113062986 single base substitution G A intron_variant PRAD-CA 3 113066005 113066005 single base substitution G A intron_variant PRAD-CA 3 113070923 113070923 single base substitution G A intron_variant PRAD-CA 3 113072626 113072626 single base substitution C A intron_variant PRAD-CA 3 113080172 113080172 single base substitution C T downstream_gene_variant PRAD-CA 3 113080172 113080172 single base substitution C T intron_variant PRAD-CA 3 113092978 113092978 single base substitution T G intron_variant PRAD-CA 3 113104580 113104580 single base substitution G A intron_variant PRAD-CA 3 113111826 113111826 single base substitution T G intron_variant PRAD-CA 3 113128546 113128546 single base substitution G T intron_variant PRAD-CA 3 113129007 113129007 single base substitution T A intron_variant PRAD-CA 3 113133689 113133689 single base substitution T C intron_variant PRAD-CA 3 113134310 113134310 single base substitution A C intron_variant PRAD-CA 3 113137202 113137202 single base substitution A G intron_variant PRAD-CA 3 113139442 113139442 single base substitution G C intron_variant PRAD-CA 3 113141389 113141389 single base substitution C G downstream_gene_variant PRAD-CA 3 113141389 113141389 single base substitution C G intron_variant PRAD-CA 3 113143340 113143340 single base substitution C T downstream_gene_variant PRAD-CA 3 113143340 113143340 single base substitution C T intron_variant PRAD-CA 3 113143483 113143483 single base substitution C T downstream_gene_variant PRAD-CA 3 113143483 113143483 single base substitution C T intron_variant PRAD-CA 3 113145006 113145006 single base substitution C T downstream_gene_variant PRAD-CA 3 113145006 113145006 single base substitution C T exon_variant PRAD-CA 3 113145006 113145006 single base substitution C T intron_variant PRAD-CA 3 113145006 113145006 single base substitution C T synonymous_variant L124L 372G>A PRAD-CA 3 113146697 113146697 single base substitution T C intron_variant PRAD-CA 3 113147824 113147824 single base substitution C T intron_variant PRAD-CA 3 113148320 113148320 single base substitution T C intron_variant PRAD-CA 3 113151054 113151054 single base substitution T A intron_variant PRAD-CA 3 113152596 113152596 single base substitution T A intron_variant PRAD-CA 3 113152596 113152596 single base substitution T A upstream_gene_variant PRAD-UK 3 113001676 113001676 single base substitution C T downstream_gene_variant PRAD-UK 3 113010302 113010302 single base substitution C T 3_prime_UTR_variant PRAD-UK 3 113010302 113010302 single base substitution C T downstream_gene_variant PRAD-UK 3 113015107 113015107 single base substitution T G intron_variant PRAD-UK 3 113015107 113015107 single base substitution T G upstream_gene_variant PRAD-UK 3 113017922 113017922 single base substitution G A intron_variant PRAD-UK 3 113017922 113017922 single base substitution G A upstream_gene_variant PRAD-UK 3 113026255 113026255 single base substitution A G intron_variant PRAD-UK 3 113026255 113026255 single base substitution A G upstream_gene_variant PRAD-UK 3 113041377 113041377 single base substitution C G intron_variant PRAD-UK 3 113044301 113044301 insertion of <=200bp - T intron_variant PRAD-UK 3 113050308 113050308 single base substitution T C downstream_gene_variant PRAD-UK 3 113050308 113050308 single base substitution T C intron_variant PRAD-UK 3 113050308 113050308 single base substitution T C upstream_gene_variant PRAD-UK 3 113061742 113061742 single base substitution A T intron_variant PRAD-UK 3 113074533 113074533 deletion of <=200bp G - intron_variant PRAD-UK 3 113079484 113079484 single base substitution T C downstream_gene_variant PRAD-UK 3 113079484 113079484 single base substitution T C intron_variant PRAD-UK 3 113086414 113086414 deletion of <=200bp A - intron_variant PRAD-UK 3 113086414 113086414 deletion of <=200bp A - upstream_gene_variant PRAD-UK 3 113089851 113089851 single base substitution C T intron_variant PRAD-UK 3 113089851 113089851 single base substitution C T upstream_gene_variant PRAD-UK 3 113092238 113092238 single base substitution C A intron_variant PRAD-UK 3 113104811 113104811 single base substitution C T intron_variant PRAD-UK 3 113105041 113105041 single base substitution G A intron_variant PRAD-UK 3 113112653 113112653 single base substitution C T intron_variant PRAD-UK 3 113140724 113140724 single base substitution T A downstream_gene_variant PRAD-UK 3 113140724 113140724 single base substitution T A intron_variant PRAD-UK 3 113153879 113153879 single base substitution T C intron_variant PRAD-UK 3 113153879 113153879 single base substitution T C upstream_gene_variant PRAD-UK 3 113160844 113160844 single base substitution C A upstream_gene_variant PRAD-UK 3 113165152 113165152 single base substitution C T upstream_gene_variant PRAD-US 3 113152410 113152410 single base substitution A T splice_donor_variant READ-US 3 113085054 113085054 single base substitution C A intron_variant READ-US 3 113085054 113085054 single base substitution C A missense_variant W849C 2547G>T READ-US 3 113085054 113085054 single base substitution C A upstream_gene_variant RECA-EU 3 113002905 113002905 single base substitution T C downstream_gene_variant RECA-EU 3 113012053 113012053 single base substitution C A downstream_gene_variant RECA-EU 3 113012053 113012053 single base substitution C A intron_variant RECA-EU 3 113016689 113016689 single base substitution T C intron_variant RECA-EU 3 113016689 113016689 single base substitution T C upstream_gene_variant RECA-EU 3 113023758 113023758 single base substitution A G intron_variant RECA-EU 3 113023758 113023758 single base substitution A G upstream_gene_variant RECA-EU 3 113024974 113024974 single base substitution A C intron_variant RECA-EU 3 113024974 113024974 single base substitution A C upstream_gene_variant RECA-EU 3 113028403 113028403 single base substitution A T intron_variant RECA-EU 3 113041201 113041201 single base substitution T A intron_variant RECA-EU 3 113046688 113046688 single base substitution C T intron_variant RECA-EU 3 113046688 113046688 single base substitution C T upstream_gene_variant RECA-EU 3 113051843 113051843 single base substitution C A downstream_gene_variant RECA-EU 3 113051843 113051843 single base substitution C A intron_variant RECA-EU 3 113060862 113060862 single base substitution A C intron_variant RECA-EU 3 113061531 113061531 single base substitution A C intron_variant RECA-EU 3 113066507 113066507 single base substitution C A intron_variant RECA-EU 3 113079691 113079691 single base substitution T A downstream_gene_variant RECA-EU 3 113079691 113079691 single base substitution T A intron_variant RECA-EU 3 113079767 113079767 single base substitution C A downstream_gene_variant RECA-EU 3 113079767 113079767 single base substitution C A intron_variant RECA-EU 3 113093944 113093944 single base substitution C T intron_variant RECA-EU 3 113121219 113121219 single base substitution A C downstream_gene_variant RECA-EU 3 113121219 113121219 single base substitution A C intron_variant RECA-EU 3 113135137 113135137 single base substitution C A intron_variant RECA-EU 3 113143190 113143190 single base substitution G A downstream_gene_variant RECA-EU 3 113143190 113143190 single base substitution G A intron_variant RECA-EU 3 113156047 113156047 single base substitution T C intron_variant RECA-EU 3 113156047 113156047 single base substitution T C upstream_gene_variant RECA-EU 3 113157963 113157963 single base substitution G C intron_variant RECA-EU 3 113157963 113157963 single base substitution G C upstream_gene_variant SKCA-BR 3 113004366 113004366 single base substitution C T downstream_gene_variant SKCA-BR 3 113004890 113004890 single base substitution G A downstream_gene_variant SKCA-BR 3 113007866 113007866 single base substitution G A 3_prime_UTR_variant SKCA-BR 3 113007866 113007866 single base substitution G A downstream_gene_variant SKCA-BR 3 113008416 113008416 single base substitution A C 3_prime_UTR_variant SKCA-BR 3 113008416 113008416 single base substitution A C downstream_gene_variant SKCA-BR 3 113010232 113010232 single base substitution A C 3_prime_UTR_variant SKCA-BR 3 113010232 113010232 single base substitution A C downstream_gene_variant SKCA-BR 3 113015456 113015456 single base substitution G A intron_variant SKCA-BR 3 113015456 113015456 single base substitution G A upstream_gene_variant SKCA-BR 3 113021177 113021177 single base substitution G A intron_variant SKCA-BR 3 113022560 113022560 single base substitution G A intron_variant SKCA-BR 3 113022826 113022826 single base substitution C T exon_variant SKCA-BR 3 113022826 113022826 single base substitution C T missense_variant E1672K 5014G>A SKCA-BR 3 113022826 113022826 single base substitution C T missense_variant E275K 823G>A SKCA-BR 3 113022826 113022826 single base substitution C T missense_variant E808K 2422G>A SKCA-BR 3 113023518 113023518 single base substitution G C intron_variant SKCA-BR 3 113023518 113023518 single base substitution G C upstream_gene_variant SKCA-BR 3 113028345 113028345 single base substitution G A intron_variant SKCA-BR 3 113030305 113030305 single base substitution A G intron_variant SKCA-BR 3 113031738 113031738 single base substitution G A intron_variant SKCA-BR 3 113032274 113032274 single base substitution G A intron_variant SKCA-BR 3 113032367 113032367 single base substitution G A intron_variant SKCA-BR 3 113033255 113033255 single base substitution A C intron_variant SKCA-BR 3 113035715 113035716 deletion of <=200bp CA - intron_variant SKCA-BR 3 113037148 113037148 single base substitution G A intron_variant SKCA-BR 3 113038444 113038444 single base substitution T C intron_variant SKCA-BR 3 113039358 113039360 deletion of <=200bp TAC - intron_variant SKCA-BR 3 113039758 113039758 single base substitution C T intron_variant SKCA-BR 3 113039843 113039843 single base substitution G A intron_variant SKCA-BR 3 113041755 113041755 single base substitution G A intron_variant SKCA-BR 3 113041779 113041779 single base substitution G A intron_variant SKCA-BR 3 113042212 113042212 single base substitution A C intron_variant SKCA-BR 3 113042489 113042489 single base substitution C T intron_variant SKCA-BR 3 113043733 113043733 single base substitution G A intron_variant SKCA-BR 3 113047541 113047542 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 3 113047541 113047542 deletion of <=200bp CT - intron_variant SKCA-BR 3 113047541 113047542 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 3 113047542 113047551 deletion of <=200bp TTAAAAAAAA - downstream_gene_variant SKCA-BR 3 113047542 113047551 deletion of <=200bp TTAAAAAAAA - intron_variant SKCA-BR 3 113047542 113047551 deletion of <=200bp TTAAAAAAAA - upstream_gene_variant SKCA-BR 3 113051624 113051624 single base substitution G A downstream_gene_variant SKCA-BR 3 113051624 113051624 single base substitution G A intron_variant SKCA-BR 3 113051624 113051624 single base substitution G A upstream_gene_variant SKCA-BR 3 113051954 113051954 single base substitution A C downstream_gene_variant SKCA-BR 3 113051954 113051954 single base substitution A C intron_variant SKCA-BR 3 113053382 113053382 single base substitution G C intron_variant SKCA-BR 3 113055616 113055616 single base substitution G A intron_variant SKCA-BR 3 113058506 113058506 single base substitution G A intron_variant SKCA-BR 3 113059405 113059405 single base substitution G A intron_variant SKCA-BR 3 113059516 113059516 single base substitution T G intron_variant SKCA-BR 3 113060870 113060870 single base substitution G A intron_variant SKCA-BR 3 113061906 113061906 insertion of <=200bp - CT intron_variant SKCA-BR 3 113062579 113062579 single base substitution G A intron_variant SKCA-BR 3 113065617 113065617 single base substitution G A intron_variant SKCA-BR 3 113066092 113066092 single base substitution G A intron_variant SKCA-BR 3 113066973 113066973 single base substitution G A intron_variant SKCA-BR 3 113067237 113067237 single base substitution G A intron_variant SKCA-BR 3 113067886 113067886 single base substitution G A intron_variant SKCA-BR 3 113068706 113068706 single base substitution A C intron_variant SKCA-BR 3 113069175 113069175 single base substitution G A intron_variant SKCA-BR 3 113069908 113069908 single base substitution T G intron_variant SKCA-BR 3 113072300 113072302 deletion of <=200bp TAC - intron_variant SKCA-BR 3 113076120 113076120 single base substitution A C intron_variant SKCA-BR 3 113076264 113076264 single base substitution G A intron_variant SKCA-BR 3 113078190 113078190 single base substitution C T downstream_gene_variant SKCA-BR 3 113078190 113078190 single base substitution C T intron_variant SKCA-BR 3 113080316 113080316 single base substitution A G downstream_gene_variant SKCA-BR 3 113080316 113080316 single base substitution A G intron_variant SKCA-BR 3 113083765 113083765 insertion of <=200bp - GT intron_variant SKCA-BR 3 113083765 113083765 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 3 113084529 113084529 single base substitution T C intron_variant SKCA-BR 3 113084529 113084529 single base substitution T C upstream_gene_variant SKCA-BR 3 113084891 113084891 single base substitution G A intron_variant SKCA-BR 3 113084891 113084891 single base substitution G A missense_variant P40S 118C>T SKCA-BR 3 113084891 113084891 single base substitution G A missense_variant P904S 2710C>T SKCA-BR 3 113084891 113084891 single base substitution G A upstream_gene_variant SKCA-BR 3 113085860 113085860 single base substitution T G intron_variant SKCA-BR 3 113085860 113085860 single base substitution T G upstream_gene_variant SKCA-BR 3 113087187 113087187 single base substitution G A intron_variant SKCA-BR 3 113087187 113087187 single base substitution G A upstream_gene_variant SKCA-BR 3 113089347 113089347 single base substitution C T intron_variant SKCA-BR 3 113089347 113089347 single base substitution C T upstream_gene_variant SKCA-BR 3 113091641 113091641 single base substitution G A intron_variant SKCA-BR 3 113093823 113093823 single base substitution G A intron_variant SKCA-BR 3 113094287 113094287 single base substitution G A intron_variant SKCA-BR 3 113095011 113095011 single base substitution A T downstream_gene_variant SKCA-BR 3 113095011 113095011 single base substitution A T intron_variant SKCA-BR 3 113099347 113099347 single base substitution A T downstream_gene_variant SKCA-BR 3 113099347 113099347 single base substitution A T intron_variant SKCA-BR 3 113102509 113102509 single base substitution G A intron_variant SKCA-BR 3 113109826 113109826 insertion of <=200bp - CA intron_variant SKCA-BR 3 113109828 113109828 single base substitution T C intron_variant SKCA-BR 3 113111272 113111272 single base substitution T G intron_variant SKCA-BR 3 113111277 113111277 single base substitution T G intron_variant SKCA-BR 3 113112725 113112725 single base substitution A C intron_variant SKCA-BR 3 113116905 113116905 single base substitution G A downstream_gene_variant SKCA-BR 3 113116905 113116905 single base substitution G A intron_variant SKCA-BR 3 113116905 113116905 single base substitution G A upstream_gene_variant SKCA-BR 3 113119292 113119292 single base substitution G A downstream_gene_variant SKCA-BR 3 113119292 113119292 single base substitution G A intron_variant SKCA-BR 3 113119292 113119292 single base substitution G A upstream_gene_variant SKCA-BR 3 113125966 113125966 single base substitution A G intron_variant SKCA-BR 3 113125966 113125966 single base substitution A G upstream_gene_variant SKCA-BR 3 113126574 113126574 single base substitution G A intron_variant SKCA-BR 3 113126574 113126574 single base substitution G A upstream_gene_variant SKCA-BR 3 113130247 113130247 single base substitution G A intron_variant SKCA-BR 3 113130590 113130590 single base substitution T C intron_variant SKCA-BR 3 113131038 113131038 single base substitution G A intron_variant SKCA-BR 3 113132904 113132904 single base substitution C G intron_variant SKCA-BR 3 113133260 113133260 single base substitution A G intron_variant SKCA-BR 3 113139312 113139312 single base substitution G A intron_variant SKCA-BR 3 113144066 113144066 single base substitution G A downstream_gene_variant SKCA-BR 3 113144066 113144066 single base substitution G A intron_variant SKCA-BR 3 113145443 113145443 single base substitution C T downstream_gene_variant SKCA-BR 3 113145443 113145443 single base substitution C T intron_variant SKCA-BR 3 113146985 113146985 single base substitution G A intron_variant SKCA-BR 3 113148300 113148300 single base substitution A G intron_variant SKCA-BR 3 113149264 113149275 deletion of <=200bp GGAAAAATAAAT - intron_variant SKCA-BR 3 113152596 113152596 single base substitution T A intron_variant SKCA-BR 3 113152596 113152596 single base substitution T A upstream_gene_variant SKCA-BR 3 113158087 113158087 single base substitution G A intron_variant SKCA-BR 3 113158087 113158087 single base substitution G A upstream_gene_variant SKCM-US 3 113002394 113002394 single base substitution G C downstream_gene_variant SKCM-US 3 113002451 113002451 single base substitution C T downstream_gene_variant SKCM-US 3 113004374 113004374 single base substitution C T downstream_gene_variant SKCM-US 3 113082150 113082150 single base substitution C T 3_prime_UTR_variant SKCM-US 3 113082150 113082150 single base substitution C T exon_variant SKCM-US 3 113082150 113082150 single base substitution C T missense_variant E62K 184G>A SKCM-US 3 113082150 113082150 single base substitution C T missense_variant E926K 2776G>A SKCM-US 3 113082325 113082325 single base substitution T C missense_variant S60G 178A>G SKCM-US 3 113082325 113082325 single base substitution T C missense_variant S924G 2770A>G SKCM-US 3 113082325 113082325 single base substitution T C splice_region_variant SKCM-US 3 113082325 113082325 single base substitution T C upstream_gene_variant SKCM-US 3 113084890 113084890 single base substitution G A intron_variant SKCM-US 3 113084890 113084890 single base substitution G A missense_variant P40L 119C>T SKCM-US 3 113084890 113084890 single base substitution G A missense_variant P904L 2711C>T SKCM-US 3 113084890 113084890 single base substitution G A upstream_gene_variant SKCM-US 3 113084920 113084920 single base substitution C T intron_variant SKCM-US 3 113084920 113084920 single base substitution C T missense_variant R30K 89G>A SKCM-US 3 113084920 113084920 single base substitution C T missense_variant R894K 2681G>A SKCM-US 3 113084920 113084920 single base substitution C T upstream_gene_variant SKCM-US 3 113085083 113085083 single base substitution G A intron_variant SKCM-US 3 113085083 113085083 single base substitution G A missense_variant P840S 2518C>T SKCM-US 3 113085083 113085083 single base substitution G A upstream_gene_variant SKCM-US 3 113098242 113098242 single base substitution C G 3_prime_UTR_variant SKCM-US 3 113098242 113098242 single base substitution C G downstream_gene_variant SKCM-US 3 113098242 113098242 single base substitution C G missense_variant E737Q 2209G>C SKCM-US 3 113114668 113114668 single base substitution C T 3_prime_UTR_variant SKCM-US 3 113114668 113114668 single base substitution C T downstream_gene_variant SKCM-US 3 113114668 113114668 single base substitution C T exon_variant SKCM-US 3 113114668 113114668 single base substitution C T missense_variant D607N 1819G>A SKCM-US 3 113114674 113114674 single base substitution C T 3_prime_UTR_variant SKCM-US 3 113114674 113114674 single base substitution C T downstream_gene_variant SKCM-US 3 113114674 113114674 single base substitution C T exon_variant SKCM-US 3 113114674 113114674 single base substitution C T missense_variant E605K 1813G>A SKCM-US 3 113114680 113114680 single base substitution C T 3_prime_UTR_variant SKCM-US 3 113114680 113114680 single base substitution C T downstream_gene_variant SKCM-US 3 113114680 113114680 single base substitution C T exon_variant SKCM-US 3 113114680 113114680 single base substitution C T missense_variant E603K 1807G>A SKCM-US 3 113114708 113114708 single base substitution C T downstream_gene_variant SKCM-US 3 113114708 113114708 single base substitution C T splice_acceptor_variant SKCM-US 3 113120439 113120439 single base substitution A G 3_prime_UTR_variant SKCM-US 3 113120439 113120439 single base substitution A G downstream_gene_variant SKCM-US 3 113120439 113120439 single base substitution A G intron_variant SKCM-US 3 113120439 113120439 single base substitution A G synonymous_variant L440L 1318T>C SKCM-US 3 113120439 113120439 single base substitution A G upstream_gene_variant SKCM-US 3 113135415 113135415 single base substitution G A 3_prime_UTR_variant SKCM-US 3 113135415 113135415 single base substitution G A synonymous_variant I210I 630C>T SKCM-US 3 113138932 113138932 single base substitution G A intron_variant SKCM-US 3 113138932 113138932 single base substitution G A synonymous_variant L168L 502C>T SKCM-US 3 113138963 113138963 single base substitution G A intron_variant SKCM-US 3 113138963 113138963 single base substitution G A synonymous_variant A157A 471C>T SKCM-US 3 113145025 113145025 single base substitution G A downstream_gene_variant SKCM-US 3 113145025 113145025 single base substitution G A exon_variant SKCM-US 3 113145025 113145025 single base substitution G A intron_variant SKCM-US 3 113145025 113145025 single base substitution G A missense_variant S118L 353C>T SKCM-US 3 113145080 113145080 single base substitution C T downstream_gene_variant SKCM-US 3 113145080 113145080 single base substitution C T exon_variant SKCM-US 3 113145080 113145080 single base substitution C T intron_variant SKCM-US 3 113145080 113145080 single base substitution C T missense_variant E100K 298G>A SKCM-US 3 113146154 113146154 single base substitution C T intron_variant SKCM-US 3 113146154 113146154 single base substitution C T missense_variant D45N 133G>A STAD-US 3 113002434 113002434 single base substitution G A downstream_gene_variant STAD-US 3 113003371 113003371 single base substitution C T downstream_gene_variant STAD-US 3 113003402 113003402 single base substitution C T downstream_gene_variant STAD-US 3 113005559 113005559 single base substitution G C downstream_gene_variant STAD-US 3 113005615 113005615 single base substitution C T downstream_gene_variant STAD-US 3 113005647 113005647 single base substitution A G downstream_gene_variant STAD-US 3 113085121 113085121 deletion of <=200bp T - frameshift_variant N827 STAD-US 3 113085121 113085121 deletion of <=200bp T - intron_variant STAD-US 3 113085121 113085121 deletion of <=200bp T - upstream_gene_variant STAD-US 3 113092397 113092397 single base substitution A G intron_variant STAD-US 3 113092397 113092397 single base substitution A G missense_variant Y769H 2305T>C STAD-US 3 113098328 113098328 single base substitution T G 3_prime_UTR_variant STAD-US 3 113098328 113098328 single base substitution T G downstream_gene_variant STAD-US 3 113098328 113098328 single base substitution T G missense_variant N708T 2123A>C STAD-US 3 113099764 113099764 single base substitution A G 3_prime_UTR_variant STAD-US 3 113099764 113099764 single base substitution A G downstream_gene_variant STAD-US 3 113099764 113099764 single base substitution A G synonymous_variant S678S 2034T>C STAD-US 3 113115407 113115407 single base substitution A G 3_prime_UTR_variant STAD-US 3 113115407 113115407 single base substitution A G downstream_gene_variant STAD-US 3 113115407 113115407 single base substitution A G exon_variant STAD-US 3 113115407 113115407 single base substitution A G synonymous_variant T579T 1737T>C STAD-US 3 113115474 113115474 single base substitution C T 3_prime_UTR_variant STAD-US 3 113115474 113115474 single base substitution C T downstream_gene_variant STAD-US 3 113115474 113115474 single base substitution C T exon_variant STAD-US 3 113115474 113115474 single base substitution C T missense_variant R557Q 1670G>A STAD-US 3 113115503 113115503 single base substitution A T 3_prime_UTR_variant STAD-US 3 113115503 113115503 single base substitution A T downstream_gene_variant STAD-US 3 113115503 113115503 single base substitution A T exon_variant STAD-US 3 113115503 113115503 single base substitution A T missense_variant D547E 1641T>A STAD-US 3 113118803 113118803 single base substitution G A 3_prime_UTR_variant STAD-US 3 113118803 113118803 single base substitution G A downstream_gene_variant STAD-US 3 113118803 113118803 single base substitution G A stop_gained Q507* 1519C>T STAD-US 3 113118803 113118803 single base substitution G A upstream_gene_variant STAD-US 3 113120574 113120574 single base substitution C T 3_prime_UTR_variant STAD-US 3 113120574 113120574 single base substitution C T downstream_gene_variant STAD-US 3 113120574 113120574 single base substitution C T intron_variant STAD-US 3 113120574 113120574 single base substitution C T missense_variant E395K 1183G>A STAD-US 3 113120574 113120574 single base substitution C T upstream_gene_variant STAD-US 3 113122717 113122717 single base substitution C T 3_prime_UTR_variant STAD-US 3 113122717 113122717 single base substitution C T downstream_gene_variant STAD-US 3 113122717 113122717 single base substitution C T exon_variant STAD-US 3 113122717 113122717 single base substitution C T synonymous_variant G384G 1152G>A STAD-US 3 113128021 113128021 single base substitution T G 3_prime_UTR_variant STAD-US 3 113128021 113128021 single base substitution T G intron_variant STAD-US 3 113128021 113128021 single base substitution T G missense_variant E274D 822A>C STAD-US 3 113146042 113146042 single base substitution C T intron_variant STAD-US 3 113146042 113146042 single base substitution C T missense_variant S82N 245G>A THCA-SA 3 113007503 113007503 single base substitution G T 3_prime_UTR_variant THCA-SA 3 113007503 113007503 single base substitution G T downstream_gene_variant THCA-SA 3 113007525 113007525 single base substitution G A 3_prime_UTR_variant THCA-SA 3 113007525 113007525 single base substitution G A downstream_gene_variant THCA-SA 3 113015660 113015660 single base substitution G A 3_prime_UTR_variant THCA-SA 3 113015660 113015660 single base substitution G A exon_variant THCA-SA 3 113015660 113015660 single base substitution G A missense_variant T1717M 5150C>T THCA-SA 3 113015660 113015660 single base substitution G A missense_variant T320M 959C>T THCA-SA 3 113015660 113015660 single base substitution G A missense_variant T853M 2558C>T THCA-SA 3 113015660 113015660 single base substitution G A upstream_gene_variant THCA-SA 3 113145006 113145006 single base substitution C T downstream_gene_variant THCA-SA 3 113145006 113145006 single base substitution C T exon_variant THCA-SA 3 113145006 113145006 single base substitution C T intron_variant THCA-SA 3 113145006 113145006 single base substitution C T synonymous_variant L124L 372G>A THCA-SA 3 113146130 113146130 single base substitution T C intron_variant THCA-SA 3 113146130 113146130 single base substitution T C missense_variant K53E 157A>G THCA-US 3 113005568 113005568 single base substitution T G downstream_gene_variant THCA-US 3 113098181 113098181 single base substitution G A 3_prime_UTR_variant THCA-US 3 113098181 113098181 single base substitution G A downstream_gene_variant THCA-US 3 113098181 113098181 single base substitution G A missense_variant S757L 2270C>T UCEC-US 3 113002257 113002257 single base substitution G A downstream_gene_variant UCEC-US 3 113002319 113002319 single base substitution G A downstream_gene_variant UCEC-US 3 113003262 113003262 single base substitution C A downstream_gene_variant UCEC-US 3 113003265 113003265 single base substitution G A downstream_gene_variant UCEC-US 3 113003294 113003294 single base substitution C T downstream_gene_variant UCEC-US 3 113004237 113004237 single base substitution G A downstream_gene_variant UCEC-US 3 113004316 113004316 single base substitution C T downstream_gene_variant UCEC-US 3 113010506 113010506 single base substitution C T 3_prime_UTR_variant UCEC-US 3 113010506 113010506 single base substitution C T downstream_gene_variant UCEC-US 3 113010506 113010506 single base substitution C T exon_variant UCEC-US 3 113010506 113010506 single base substitution C T synonymous_variant S1821S 5463G>A UCEC-US 3 113010506 113010506 single base substitution C T synonymous_variant S957S 2871G>A UCEC-US 3 113022811 113022811 single base substitution G A exon_variant UCEC-US 3 113022811 113022811 single base substitution G A missense_variant R1677C 5029C>T UCEC-US 3 113022811 113022811 single base substitution G A missense_variant R280C 838C>T UCEC-US 3 113022811 113022811 single base substitution G A missense_variant R813C 2437C>T UCEC-US 3 113023926 113023926 single base substitution C T exon_variant UCEC-US 3 113023926 113023926 single base substitution C T missense_variant R1611Q 4832G>A UCEC-US 3 113023926 113023926 single base substitution C T missense_variant R214Q 641G>A UCEC-US 3 113023926 113023926 single base substitution C T missense_variant R747Q 2240G>A UCEC-US 3 113023926 113023926 single base substitution C T upstream_gene_variant UCEC-US 3 113027012 113027012 single base substitution G A exon_variant UCEC-US 3 113027012 113027012 single base substitution G A synonymous_variant C143C 429C>T UCEC-US 3 113027012 113027012 single base substitution G A synonymous_variant C1540C 4620C>T UCEC-US 3 113027012 113027012 single base substitution G A synonymous_variant C676C 2028C>T UCEC-US 3 113027012 113027012 single base substitution G A upstream_gene_variant UCEC-US 3 113049472 113049473 deletion of <=200bp AG - downstream_gene_variant UCEC-US 3 113049472 113049473 deletion of <=200bp AG - frameshift_variant L1220 UCEC-US 3 113049472 113049473 deletion of <=200bp AG - frameshift_variant L356 UCEC-US 3 113049472 113049473 deletion of <=200bp AG - upstream_gene_variant UCEC-US 3 113052257 113052257 single base substitution G T downstream_gene_variant UCEC-US 3 113052257 113052257 single base substitution G T missense_variant S1204Y 3611C>A UCEC-US 3 113052257 113052257 single base substitution G T missense_variant S340Y 1019C>A UCEC-US 3 113052263 113052263 single base substitution A G downstream_gene_variant UCEC-US 3 113052263 113052263 single base substitution A G missense_variant L1202P 3605T>C UCEC-US 3 113052263 113052263 single base substitution A G missense_variant L338P 1013T>C UCEC-US 3 113063555 113063555 single base substitution G A intron_variant UCEC-US 3 113063555 113063555 single base substitution G A stop_gained R1024* 3070C>T UCEC-US 3 113063555 113063555 single base substitution G A stop_gained R160* 478C>T UCEC-US 3 113077690 113077690 single base substitution C A downstream_gene_variant UCEC-US 3 113077690 113077690 single base substitution C A exon_variant UCEC-US 3 113077690 113077690 single base substitution C A missense_variant E125D 375G>T UCEC-US 3 113077690 113077690 single base substitution C A missense_variant E989D 2967G>T UCEC-US 3 113082086 113082086 single base substitution C T 3_prime_UTR_variant UCEC-US 3 113082086 113082086 single base substitution C T exon_variant UCEC-US 3 113082086 113082086 single base substitution C T missense_variant R83Q 248G>A UCEC-US 3 113082086 113082086 single base substitution C T missense_variant R947Q 2840G>A UCEC-US 3 113082108 113082108 single base substitution C A 3_prime_UTR_variant UCEC-US 3 113082108 113082108 single base substitution C A exon_variant UCEC-US 3 113082108 113082108 single base substitution C A stop_gained E76* 226G>T UCEC-US 3 113082108 113082108 single base substitution C A stop_gained E940* 2818G>T UCEC-US 3 113092331 113092331 single base substitution G A intron_variant UCEC-US 3 113092331 113092331 single base substitution G A stop_gained Q791* 2371C>T UCEC-US 3 113092365 113092365 single base substitution G A intron_variant UCEC-US 3 113092365 113092365 single base substitution G A synonymous_variant F779F 2337C>T UCEC-US 3 113114687 113114687 single base substitution G C 3_prime_UTR_variant UCEC-US 3 113114687 113114687 single base substitution G C downstream_gene_variant UCEC-US 3 113114687 113114687 single base substitution G C exon_variant UCEC-US 3 113114687 113114687 single base substitution G C missense_variant F600L 1800C>G UCEC-US 3 113115489 113115489 single base substitution G A 3_prime_UTR_variant UCEC-US 3 113115489 113115489 single base substitution G A downstream_gene_variant UCEC-US 3 113115489 113115489 single base substitution G A exon_variant UCEC-US 3 113115489 113115489 single base substitution G A missense_variant T552M 1655C>T UCEC-US 3 113115523 113115523 single base substitution G A 3_prime_UTR_variant UCEC-US 3 113115523 113115523 single base substitution G A downstream_gene_variant UCEC-US 3 113115523 113115523 single base substitution G A exon_variant UCEC-US 3 113115523 113115523 single base substitution G A stop_gained R541* 1621C>T UCEC-US 3 113118757 113118757 single base substitution C T 3_prime_UTR_variant UCEC-US 3 113118757 113118757 single base substitution C T downstream_gene_variant UCEC-US 3 113118757 113118757 single base substitution C T missense_variant R522Q 1565G>A UCEC-US 3 113118757 113118757 single base substitution C T upstream_gene_variant UCEC-US 3 113122749 113122749 single base substitution T G 3_prime_UTR_variant UCEC-US 3 113122749 113122749 single base substitution T G downstream_gene_variant UCEC-US 3 113122749 113122749 single base substitution T G missense_variant M374L 1120A>C UCEC-US 3 113122749 113122749 single base substitution T G upstream_gene_variant UCEC-US 3 113122860 113122860 single base substitution G T 3_prime_UTR_variant UCEC-US 3 113122860 113122860 single base substitution G T missense_variant L337I 1009C>A UCEC-US 3 113122860 113122860 single base substitution G T upstream_gene_variant UCEC-US 3 113127958 113127958 single base substitution G A 3_prime_UTR_variant UCEC-US 3 113127958 113127958 single base substitution G A intron_variant UCEC-US 3 113127958 113127958 single base substitution G A synonymous_variant H295H 885C>T UCEC-US 3 113145025 113145025 single base substitution G A downstream_gene_variant UCEC-US 3 113145025 113145025 single base substitution G A exon_variant UCEC-US 3 113145025 113145025 single base substitution G A intron_variant UCEC-US 3 113145025 113145025 single base substitution G A missense_variant S118L 353C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EE-A3JD-06 COSM4394186 c.133G>A p.D45N Substitution - Missense 3:113427307-113427307 - LUAD-VUMN6 COSM348027 c.924C>T p.L308L Substitution - coding silent 3:113407008-113407008 - TCGA-39-5036-01 COSM727188 c.455T>C p.L152P Substitution - Missense 3:113420132-113420132 - TCGA-A5-A0GB-01 COSM1036478 c.885C>T p.H295H Substitution - coding silent 3:113409111-113409111 - TCGA-B2-4102-01 COSM1136913 c.16G>C p.D6H Substitution - Missense 3:113433649-113433649 - CSCC-27-T COSM4465837 c.1401C>T p.S467S Substitution - coding silent 3:113400618-113400618 - TCGA-BR-6452-01 COSM4112283 c.1737T>C p.T579T Substitution - coding silent 3:113396560-113396560 - 8067232 COSM3780628 c.2386A>G p.I796V Substitution - Missense 3:113373469-113373469 - Pat_59_B COSM5863219 c.43G>A p.V15I Substitution - Missense 3:113433622-113433622 - CN-AML-NR-08-Dx COSM3774042 c.2234C>T p.P745L Substitution - Missense 3:113379370-113379370 - S00936 COSM316543 c.2527A>G p.T843A Substitution - Missense 3:113366227-113366227 - TCGA-AZ-4315-01 COSM1417857 c.808G>A p.A270T Substitution - Missense 3:113409188-113409188 - LUAD-E00918 COSM365244 c.2030C>T p.S677L Substitution - Missense 3:113380921-113380921 - TCGA-BS-A0UV-01 COSM1036475 c.1565G>A p.R522Q Substitution - Missense 3:113399910-113399910 - CSCC-27-T COSM4483184 c.267C>T p.T89T Substitution - coding silent 3:113426264-113426264 - TCGA-A5-A0GN-01 COSM1036472 c.1800C>G p.F600L Substitution - Missense 3:113395840-113395840 - TCGA-BR-4184-01 COSM4112290 c.245G>A p.S82N Substitution - Missense 3:113427195-113427195 - SS6003111 COSM4054939 c.2842A>G p.K948E Substitution - Missense 3:113363237-113363237 - TCGA-DU-6542-01 COSM3974079 c.2164T>C p.F722L Substitution - Missense 3:113379440-113379440 - TCGA-DK-A2I1-01 COSM1308404 c.1879C>G p.P627A Substitution - Missense 3:113395761-113395761 - TCGA-B0-5117-01 COSM1495326 c.1664C>T p.A555V Substitution - Missense 3:113396633-113396633 - S00022 COSM316541 c.2861C>T p.A954V Substitution - Missense 3:113363218-113363218 - TCGA-A6-2686-01 COSM5085584 c.1170+4A>C p.? Unknown 3:113403848-113403848 - CHEWS031 COSM4583802 c.443A>G p.N148S Substitution - Missense 3:113420144-113420144 - TCGA-AN-A046-01 COSM3845851 c.2491C>T p.R831* Substitution - Nonsense 3:113366263-113366263 - S01022 COSM5665983 c.2264T>G p.F755C Substitution - Missense 3:113379340-113379340 - TCGA-D8-A1JA-01 COSM3845852 c.2413G>A p.E805K Substitution - Missense 3:113373442-113373442 - TCGA-BS-A0UJ-01 COSM1036476 c.1120A>C p.M374L Substitution - Missense 3:113403902-113403902 - TCGA-CK-4951-01 COSM5151604 c.1448A>T p.Y483F Substitution - Missense 3:113400571-113400571 - TCGA-CC-A5UC-01 COSM4911924 c.2422C>T p.P808S Substitution - Missense 3:113373433-113373433 - LUAD-D02185 COSM338735 c.2731G>T p.E911* Substitution - Nonsense 3:113363517-113363517 - BRC39 COSM5025998 c.1653C>A p.L551L Substitution - coding silent 3:113396644-113396644 - TCGA-EW-A1PD-01 COSM1484455 c.1075C>T p.R359* Substitution - Nonsense 3:113403947-113403947 - TCGA-EE-A2M5-06 COSM3585474 c.2209G>C p.E737Q Substitution - Missense 3:113379395-113379395 - DLD1 COSM4624924 c.1842T>C p.I614I Substitution - coding silent 3:113395798-113395798 - T3091 COSM4740989 c.1139T>C p.V380A Substitution - Missense 3:113403883-113403883 - TCGA-EK-A2RL-01 COSM4820436 c.1278C>T p.F426F Substitution - coding silent 3:113401632-113401632 - TCGA-AY-4071-01 COSM287698 c.866C>G p.T289S Substitution - Missense 3:113409130-113409130 - S00829 COSM5660069 c.454C>T p.L152L Substitution - coding silent 3:113420133-113420133 - TCGA-A5-A0VP-01 COSM1036466 c.2840G>A p.R947Q Substitution - Missense 3:113363239-113363239 - TCGA-B0-4811-01 COSM479229 c.706T>C p.F236L Substitution - Missense 3:113409290-113409290 - TCGA-AX-A0J1-01 COSM1036473 c.1655C>T p.T552M Substitution - Missense 3:113396642-113396642 - S0029 COSM5883713 c.208G>A p.G70R Substitution - Missense 3:113427232-113427232 - TCGA-36-2537-01 COSM1327969 c.746A>G p.N249S Substitution - Missense 3:113409250-113409250 - CSB1 COSM3372956 c.2270C>T p.S757L Substitution - Missense 3:113379334-113379334 - TCGA-AA-3966-01 COSM273471 c.14A>T p.D5V Substitution - Missense 3:113433651-113433651 - TCGA-D3-A51R-06 COSM3585475 c.1819G>A p.D607N Substitution - Missense 3:113395821-113395821 - TCGA-EJ-5516-01 COSM1130370 c.100+2T>A p.? Unknown 3:113433563-113433563 - ESO-118 COSM1270409 c.620C>G p.P207R Substitution - Missense 3:113416578-113416578 - TCGA-ER-A19S-06 COSM727187 c.353C>T p.S118L Substitution - Missense 3:113426178-113426178 - PTC-7C COSM4002394 c.852G>T p.K284N Substitution - Missense 3:113409144-113409144 - CSCC-31-T COSM4571615 c.501T>G p.F167L Substitution - Missense 3:113420086-113420086 - HCC2998 COSM1670439 c.973A>G p.I325V Substitution - Missense 3:113406959-113406959 - TCGA-D1-A17Q-01 COSM727187 c.353C>T p.S118L Substitution - Missense 3:113426178-113426178 - CN-AML-08-T COSM3774042 c.2234C>T p.P745L Substitution - Missense 3:113379370-113379370 - NCI-0040 COSM3118807 c.2645T>G p.I882S Substitution - Missense 3:113366109-113366109 - TCGA-CK-4951-01 COSM5151605 c.1392C>T p.C464C Substitution - coding silent 3:113400627-113400627 - TCGA-CM-6171-01 COSM1417855 c.1657A>T p.I553F Substitution - Missense 3:113396640-113396640 - J30_T COSM3944688 c.1025G>A p.W342* Substitution - Nonsense 3:113403997-113403997 - TCGA-G4-6586-01 COSM1417860 c.128delT p.L43fs*1 Deletion - Frameshift 3:113427312-113427312 - TCGA-BR-6566-01 COSM4112288 c.1152G>A p.G384G Substitution - coding silent 3:113403870-113403870 - HCC2998 COSM1670439 c.973A>G p.I325V Substitution - Missense 3:113406959-113406959 - J63_T COSM3944687 c.2139G>T p.E713D Substitution - Missense 3:113379465-113379465 - CSCC-38-T COSM4478404 c.2237C>G p.S746* Substitution - Nonsense 3:113379367-113379367 - PT22_1 COSM5902268 c.2611C>T p.R871C Substitution - Missense 3:113366143-113366143 - TCGA-D3-A2JF-06 COSM3585469 c.2770A>G p.S924G Substitution - Missense 3:113363478-113363478 - B9 COSM253888 c.1627C>G p.L543V Substitution - Missense 3:113396670-113396670 - TCGA-FD-A3SO-01 COSM3800905 c.2167C>T p.Q723* Substitution - Nonsense 3:113379437-113379437 - TCGA-G3-A25S-01 COSM4926872 c.44T>C p.V15A Substitution - Missense 3:113433621-113433621 - TCGA-CU-A0YN-01 COSM419926 c.377C>G p.S126* Substitution - Nonsense 3:113426154-113426154 - TCGA-BR-4362-01 COSM4112289 c.822A>C p.E274D Substitution - Missense 3:113409174-113409174 - LUAD_E00623 COSM354327 c.1321G>C p.A441P Substitution - Missense 3:113401589-113401589 - TCGA-EE-A3AA-06 COSM3585467 c.2776G>A p.E926K Substitution - Missense 3:113363303-113363303 - LUAD-B00523 COSM332000 c.229T>C p.Y77H Substitution - Missense 3:113427211-113427211 - TCGA-CG-4449-01 COSM4112287 c.1183G>A p.E395K Substitution - Missense 3:113401727-113401727 - NB-3186 COSM1288942 c.32G>A p.G11E Substitution - Missense 3:113433633-113433633 - LUAD-E00918 COSM365245 c.652A>T p.R218* Substitution - Nonsense 3:113416546-113416546 - TCGA-A2-A0CX-01 COSM445319 c.2246C>A p.S749Y Substitution - Missense 3:113379358-113379358 - TCGA-AM-5821-01 COSM3759619 c.157A>G p.K53E Substitution - Missense 3:113427283-113427283 - TCGA-36-2538-01 COSM1327970 c.2165T>A p.F722Y Substitution - Missense 3:113379439-113379439 - REC-1 COSM1738924 c.2302G>A p.G768S Substitution - Missense 3:113373553-113373553 - pfg122T COSM4760239 c.526A>T p.I176F Substitution - Missense 3:113420061-113420061 - 3N57-VS-3T57 COSM4984000 c.2783C>G p.A928G Substitution - Missense 3:113363296-113363296 - T3064 COSM4740986 c.2732_2733delAG p.E911fs*7 Deletion - Frameshift 3:113363515-113363516 - TCGA-18-5595-01 COSM727191 c.643C>T p.P215S Substitution - Missense 3:113416555-113416555 - TCGA-EE-A3JD-06 COSM4395621 c.1780-1G>A p.? Unknown 3:113395861-113395861 - TCGA-FW-A3R5-06 COSM3914575 c.2681G>A p.R894K Substitution - Missense 3:113366073-113366073 - ESCC_161 COSM5647660 c.588T>G p.T196T Substitution - coding silent 3:113416610-113416610 - TCGA-EE-A29M-06 COSM3585479 c.630C>T p.I210I Substitution - coding silent 3:113416568-113416568 - CSCC-54-T COSM4571606 c.499T>A p.F167I Substitution - Missense 3:113420088-113420088 - TCGA-AP-A059-01 COSM1036470 c.2371C>T p.Q791* Substitution - Nonsense 3:113373484-113373484 - BD72T COSM5511927 c.1128T>C p.Y376Y Substitution - coding silent 3:113403894-113403894 - TCGA-UB-A7MB-01 COSM4931090 c.2426T>C p.I809T Substitution - Missense 3:113373429-113373429 - SNUH_G16_S1 COSM4002394 c.852G>T p.K284N Substitution - Missense 3:113409144-113409144 - TCGA-NH-A5IV-01 COSM176703 c.1669C>T p.R557W Substitution - Missense 3:113396628-113396628 - LUAD-74TBW COSM355184 c.479T>A p.I160K Substitution - Missense 3:113420108-113420108 - ICGC_0005 COSM1158618 c.912G>A p.T304T Substitution - coding silent 3:113407020-113407020 - TCGA-CZ-5466-01 COSM479228 c.873G>A p.S291S Substitution - coding silent 3:113409123-113409123 - TCGA-BS-A0UV-01 COSM1036474 c.1621C>T p.R541* Substitution - Nonsense 3:113396676-113396676 - TCGA-AA-3510-01 COSM1417851 c.2611C>A p.R871S Substitution - Missense 3:113366143-113366143 - TCGA-CM-5861-01 COSM1417856 c.1197T>C p.T399T Substitution - coding silent 3:113401713-113401713 - TCGA-B7-5816-01 COSM4112282 c.2034T>C p.S678S Substitution - coding silent 3:113380917-113380917 - TCGA-AG-3898-01 COSM258732 c.469G>A p.A157T Substitution - Missense 3:113420118-113420118 - S00841 COSM318288 c.2006T>A p.M669K Substitution - Missense 3:113380945-113380945 - CN-AML-08-T COSM4002394 c.852G>T p.K284N Substitution - Missense 3:113409144-113409144 - TCGA-C8-A26Y-01 COSM3845849 c.2841G>A p.R947R Substitution - coding silent 3:113363238-113363238 - TCGA-G4-6304-01 COSM1417858 c.667C>A p.L223I Substitution - Missense 3:113416531-113416531 - 72 COSM3585481 c.298G>A p.E100K Substitution - Missense 3:113426233-113426233 - CML047T COSM5803020 c.1475-4A>G p.? Unknown 3:113400004-113400004 - TCGA-EL-A3T1-01 COSM3372956 c.2270C>T p.S757L Substitution - Missense 3:113379334-113379334 - HCC53T COSM1616737 c.1190T>A p.I397K Substitution - Missense 3:113401720-113401720 - TCGA-18-3419-01 COSM727193 c.1096C>T p.H366Y Substitution - Missense 3:113403926-113403926 - T3111 COSM4740984 c.2834A>G p.K945R Substitution - Missense 3:113363245-113363245 - ESO-184 COSM1270410 c.2919G>T p.M973I Substitution - Missense 3:113363160-113363160 - BD114T COSM5502760 c.743G>A p.S248N Substitution - Missense 3:113409253-113409253 - TCGA-EB-A3Y7-01 COSM3585476 c.1813G>A p.E605K Substitution - Missense 3:113395827-113395827 - TCGA-B8-4146-01 COSM479227 c.1753C>T p.R585C Substitution - Missense 3:113396544-113396544 - TCGA-BS-A0UF-01 COSM727187 c.353C>T p.S118L Substitution - Missense 3:113426178-113426178 - TCGA-AN-A04D-01 COSM445321 c.218G>T p.S73I Substitution - Missense 3:113427222-113427222 - TCGA-BT-A2LA-01 COSM1308405 c.1336G>A p.G446R Substitution - Missense 3:113401278-113401278 - Pat_26_A COSM5863218 c.161G>A p.G54E Substitution - Missense 3:113427279-113427279 - TCGA-B5-A0JY-01 COSM1036475 c.1565G>A p.R522Q Substitution - Missense 3:113399910-113399910 - B9-Tumor COSM253888 c.1627C>G p.L543V Substitution - Missense 3:113396670-113396670 - HCC045T COSM5803738 c.2334G>T p.E778D Substitution - Missense 3:113373521-113373521 - T3080 COSM4740991 c.233G>A p.G78D Substitution - Missense 3:113427207-113427207 - ESO-0129 COSM1270408 c.570G>A p.G190G Substitution - coding silent 3:113420017-113420017 - TCGA-A8-A0A6-01 COSM3845854 c.1050T>G p.G350G Substitution - coding silent 3:113403972-113403972 - pfg181T COSM4760234 c.2303G>A p.G768D Substitution - Missense 3:113373552-113373552 - TCGA-EK-A2RC-01 COSM4848552 c.1975C>T p.H659Y Substitution - Missense 3:113380976-113380976 - CN-AML-NR-08-Dx COSM4002394 c.852G>T p.K284N Substitution - Missense 3:113409144-113409144 - TCGA-AP-A059-01 COSM1036477 c.1009C>A p.L337I Substitution - Missense 3:113404013-113404013 - TCGA-ER-A198-06 COSM3585481 c.298G>A p.E100K Substitution - Missense 3:113426233-113426233 - sysucc-783T COSM5484586 c.602C>A p.A201D Substitution - Missense 3:113416596-113416596 - TCGA-DA-A1HV-06 COSM3585477 c.1807G>A p.E603K Substitution - Missense 3:113395833-113395833 - TCGA-AP-A0LM-01 COSM1036468 c.2818G>T p.E940* Substitution - Nonsense 3:113363261-113363261 - GB11 COSM1744742 c.459C>T p.D153D Substitution - coding silent 3:113420128-113420128 - CSCC-41-T COSM4539767 c.2731G>C p.E911Q Substitution - Missense 3:113363517-113363517 - LUAD-YINHD COSM350708 c.1834G>T p.G612C Substitution - Missense 3:113395806-113395806 - S00841 COSM318288 c.2006T>A p.M669K Substitution - Missense 3:113380945-113380945 - CN-AML-08-T COSM5425568 c.156C>T p.T52T Substitution - coding silent 3:113427284-113427284 - PT53 COSM5941223 c.1471G>A p.D491N Substitution - Missense 3:113400548-113400548 - TCGA-EE-A2MD-06 COSM3585478 c.1318T>C p.L440L Substitution - coding silent 3:113401592-113401592 - TCGA-FW-A3R5-06 COSM3914577 c.502C>T p.L168L Substitution - coding silent 3:113420085-113420085 - RK042_C COSM1632727 c.192T>G p.D64E Substitution - Missense 3:113427248-113427248 - CSCC-57-T COSM4471345 c.1713C>T p.F571F Substitution - coding silent 3:113396584-113396584 - 101 COSM5011175 c.2229T>A p.F743L Substitution - Missense 3:113379375-113379375 - TCGA-CJ-4637-01 COSM1136912 c.848A>C p.D283A Substitution - Missense 3:113409148-113409148 - TCGA-66-2763-01 COSM727196 c.2142G>T p.M714I Substitution - Missense 3:113379462-113379462 - TCGA-43-5668-01 COSM727195 c.2075G>A p.R692K Substitution - Missense 3:113379529-113379529 - TCGA-AP-A056-01 COSM1036471 c.2337C>T p.F779F Substitution - coding silent 3:113373518-113373518 - TCGA-B2-4101-01 COSM3774042 c.2234C>T p.P745L Substitution - Missense 3:113379370-113379370 - T3048 COSM4740988 c.1754G>A p.R585H Substitution - Missense 3:113396543-113396543 - HCC53 COSM1616737 c.1190T>A p.I397K Substitution - Missense 3:113401720-113401720 - PCSI_0890_Pa_P_526 COSM5762055 c.1038G>A p.L346L Substitution - coding silent 3:113403984-113403984 - TCGA-AA-3815-01 COSM1417849 c.2942T>C p.L981P Substitution - Missense 3:113363137-113363137 - UD-SCC-2 COSM3845851 c.2491C>T p.R831* Substitution - Nonsense 3:113366263-113366263 - TCGA-D1-A17Q-01 COSM1036468 c.2818G>T p.E940* Substitution - Nonsense 3:113363261-113363261 - ESCC-148T COSM3940197 c.2407G>T p.D803Y Substitution - Missense 3:113373448-113373448 - TCGA-AN-A0AK-01 COSM5205919 c.2849_2850delAG p.E950fs*8 Deletion - Frameshift 3:113363229-113363230 - TCGA-60-2698-01 COSM727189 c.535C>T p.R179* Substitution - Nonsense 3:113420052-113420052 - TCGA-CD-A4MG-01 COSM4112284 c.1670G>A p.R557Q Substitution - Missense 3:113396627-113396627 - TCGA-37-4133-01 COSM727187 c.353C>T p.S118L Substitution - Missense 3:113426178-113426178 - 8031867 COSM1158618 c.912G>A p.T304T Substitution - coding silent 3:113407020-113407020 - TCGA-AM-5821-01 COSM3759618 c.372G>A p.L124L Substitution - coding silent 3:113426159-113426159 - CSCC-52-T COSM4529738 c.1639G>A p.D547N Substitution - Missense 3:113396658-113396658 - 10-P1058 COSM4583801 c.2202_2204delGGA p.E737delE Deletion - In frame 3:113379400-113379402 - TCGA-37-3789-01 COSM727192 c.670C>A p.R224R Substitution - coding silent 3:113416528-113416528 - TCGA-BR-6452-01 COSM4112281 c.2123A>C p.N708T Substitution - Missense 3:113379481-113379481 - CSCC-29-T COSM4452745 c.2104A>T p.I702L Substitution - Missense 3:113379500-113379500 - HOP-62 COSM1036472 c.1800C>G p.F600L Substitution - Missense 3:113395840-113395840 - CN-AML-NR-08-Dx COSM5425568 c.156C>T p.T52T Substitution - coding silent 3:113427284-113427284 - S02246 COSM5679063 c.2074A>T p.R692W Substitution - Missense 3:113379530-113379530 - Pat_07_B COSM5863217 c.460G>A p.D154N Substitution - Missense 3:113420127-113420127 - TCGA-B5-A0K9-01 COSM479227 c.1753C>T p.R585C Substitution - Missense 3:113396544-113396544 - ICGC_MB34 COSM215888 c.637G>C p.E213Q Substitution - Missense 3:113416561-113416561 - TCGA-AM-5820-01 COSM1136913 c.16G>C p.D6H Substitution - Missense 3:113433649-113433649 - 389 COSM4427690 c.1826A>T p.K609M Substitution - Missense 3:113395814-113395814 - CPCG0203-F1 COSM3759618 c.372G>A p.L124L Substitution - coding silent 3:113426159-113426159 - TCGA-AA-A00N-01 COSM258732 c.469G>A p.A157T Substitution - Missense 3:113420118-113420118 - TCGA-CI-6619-01 COSM1566342 c.2547G>T p.W849C Substitution - Missense 3:113366207-113366207 - TCGA-AZ-4315-01 COSM1417859 c.309G>T p.K103N Substitution - Missense 3:113426222-113426222 - RK042_C01 COSM1632727 c.192T>G p.D64E Substitution - Missense 3:113427248-113427248 - TCGA-D8-A1JK-01 COSM1484456 c.443A>C p.N148T Substitution - Missense 3:113420144-113420144 - TCGA-EW-A1PD-01 COSM1484453 c.2221G>A p.E741K Substitution - Missense 3:113379383-113379383 - ATL089 COSM5708423 c.224T>G p.F75C Substitution - Missense 3:113427216-113427216 - TCGA-HU-8602-01 COSM4112286 c.1519C>T p.Q507* Substitution - Nonsense 3:113399956-113399956 - TCGA-BR-4256-01 COSM4112280 c.2305T>C p.Y769H Substitution - Missense 3:113373550-113373550 - YUDON COSM5397833 c.1914C>T p.I638I Substitution - coding silent 3:113381037-113381037 - TCGA-CG-5721-01 COSM4112285 c.1641T>A p.D547E Substitution - Missense 3:113396656-113396656 - TCGA-DK-A2I4-01 COSM3800906 c.682G>A p.E228K Substitution - Missense 3:113409314-113409314 - B9 COSM253888 c.1627C>G p.L543V Substitution - Missense 3:113396670-113396670 - TCGA-AA-3510-01 COSM5099685 c.2715+8A>C p.? Unknown 3:113366031-113366031 - TCGA-MH-A55W-01 COSM3992640 c.1172T>G p.I391R Substitution - Missense 3:113401738-113401738 - TCGA-D5-6530-01 COSM5162824 c.1564C>T p.R522* Substitution - Nonsense 3:113399911-113399911 - TCGA-E2-A570-01 COSM3845853 c.1452C>A p.L484L Substitution - coding silent 3:113400567-113400567 - Br27P COSM40763 c.2161G>A p.E721K Substitution - Missense 3:113379443-113379443 - CSCC-17-T COSM4540083 c.2786G>A p.R929K Substitution - Missense 3:113363293-113363293 - TCGA-G9-6369-01 COSM3673805 c.1043G>T p.W348L Substitution - Missense 3:113403979-113403979 - TCGA-66-2787-01 COSM727190 c.610G>T p.G204W Substitution - Missense 3:113416588-113416588 - TCGA-EE-A29E-06 COSM3585473 c.2518C>T p.P840S Substitution - Missense 3:113366236-113366236 - SJMB041 COSM255828 c.1830G>A p.P610P Substitution - coding silent 3:113395810-113395810 - 423 COSM4432529 c.2560C>T p.H854Y Substitution - Missense 3:113366194-113366194 - TCGA-ER-A193-06 COSM3585471 c.2711C>T p.P904L Substitution - Missense 3:113366043-113366043 - LUAD-LIP77 COSM342450 c.2107A>T p.R703W Substitution - Missense 3:113379497-113379497 - S00022 COSM316541 c.2861C>T p.A954V Substitution - Missense 3:113363218-113363218 - ccRCC-20 COSM1664996 c.2407G>C p.D803H Substitution - Missense 3:113373448-113373448 - Pat_26_B COSM5863218 c.161G>A p.G54E Substitution - Missense 3:113427279-113427279 - 8014199 COSM1158618 c.912G>A p.T304T Substitution - coding silent 3:113407020-113407020 - 381LT COSM4382921 c.2509C>G p.Q837E Substitution - Missense 3:113366245-113366245 - LUAD-B01811 COSM334487 c.817C>G p.Q273E Substitution - Missense 3:113409179-113409179 - SJMB041 COSM255828 c.1830G>A p.P610P Substitution - coding silent 3:113395810-113395810 - S02397 COSM5699263 c.622G>T p.D208Y Substitution - Missense 3:113416576-113416576 - KM12 COSM3118850 c.253G>T p.V85L Substitution - Missense 3:113427187-113427187 - 40M COSM5586994 c.619C>T p.P207S Substitution - Missense 3:113416579-113416579 - TCGA-34-2600-01 COSM727186 c.226C>T p.Q76* Substitution - Nonsense 3:113427214-113427214 - TCGA-G4-6320-01 COSM4583801 c.2202_2204delGGA p.E737delE Deletion - In frame 3:113379400-113379402 - TCGA-EE-A2GT-06 COSM3585480 c.471C>T p.A157A Substitution - coding silent 3:113420116-113420116 - CR007 COSM4994661 c.2354G>A p.S785N Substitution - Missense 3:113373501-113373501 - T2940 COSM4740990 c.946C>T p.R316* Substitution - Nonsense 3:113406986-113406986 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.584936 3q13.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.D64E c.192T>G 3 113146095 HC A C Missense p.V1227G c.3680T>G 3 113049451 RCCC AG - Frameshift p.L1220*fs*1 c.3658_3659delCT 3 113049472 UCEC A G Missense p.F236L c.706T>C 3 113128137 RCCC A G Missense p.F722L c.2164T>C 3 113098287 LGG A G Missense p.I1217T c.3650T>C 3 113049481 BRCA A G Missense p.L1202P c.3605T>C 3 113052263 UCEC A G Missense p.L152P c.455T>C 3 113138979 LUSC A G Missense p.Y769H c.2305T>C 3 113092397 STAD A G Synonymous p.F236F c.708T>C 3 113128135 LUAD A G Synonymous p.L440L c.1318T>C 3 113120439 CM A G Synonymous p.S678S c.2034T>C 3 113099764 STAD A T Missense p.M669K c.2006T>A 3 113099792 SCLC A T SpliceDonorSNV . c.100+2T>A 3 113152410 PRAD A T Synonymous p.S1401S c.4203T>A 3 113046580 BRCA C A Missense p.G204W c.610G>T 3 113135435 LUSC C A Missense p.G240C c.718G>T 3 113128125 LUAD C A Missense p.G612C c.1834G>T 3 113114653 LUAD C A Missense p.M714I c.2142G>T 3 113098309 LUSC C A Missense p.M973I c.2919G>T 3 113082007 ESCA C A Missense p.S73I c.218G>T 3 113146069 BRCA C A Missense p.V874L c.2620G>T 3 113084981 LUAD C A Missense p.W348L c.1043G>T 3 113122826 PRAD C A Synonymous p.V874V c.2622G>T 3 113084979 LUAD C G Missense p.E213Q c.637G>C 3 113135408 MB C G Missense p.E228Q c.682G>C 3 113128161 BRCA C G Missense p.E228Q c.682G>C 3 113128161 LUAD C G Missense p.E31Q c.91G>C 3 113152421 HNSC C G Missense p.E737Q c.2209G>C 3 113098242 CM C G SpliceAcceptorSNV . c.1-6G>C 3 113152517 BRCA C G SpliceAcceptorSNV . c.2053-1G>C 3 113098399 HNSC C T Missense p.A157T c.469G>A 3 113138965 COREAD C T Missense p.D45N c.133G>A 3 113146154 CM C T Missense p.E100K c.298G>A 3 113145080 CM C T Missense p.E228K c.682G>A 3 113128161 BLCA C T Missense p.E300K c.898G>A 3 113125881 CM C T Missense p.E395K c.1183G>A 3 113120574 STAD C T Missense p.E603K c.1807G>A 3 113114680 CM C T Missense p.E741K c.2221G>A 3 113098230 BRCA C T Missense p.E926K c.2776G>A 3 113082150 CM C T Missense p.G11E c.32G>A 3 113152480 NB C T Missense p.G446R c.1336G>A 3 113120125 BLCA C T Missense p.R1611Q c.4832G>A 3 113023926 UCEC C T Missense p.R692K c.2075G>A 3 113098376 LUSC C T Missense p.R947Q c.2840G>A 3 113082086 UCEC C T SpliceAcceptorSNV . c.1780-1G>A 3 113114708 CM C T Synonymous p.G190G c.570G>A 3 113138864 ESCA C T Synonymous p.T304T c.912G>A 3 113125867 PAAD G A Missense p.A555V c.1664C>T 3 113115480 THCA G A Missense p.A954V c.2861C>T 3 113082065 SCLC G A Missense p.E721K c.2161G>A 3 113098290 GBM G A Missense p.H366Y c.1096C>T 3 113122773 LUSC G A Missense p.H675Y c.2023C>T 3 113099775 CM G A Missense p.L133F c.397C>T 3 113144981 CM G A Missense p.P207S c.619C>T 3 113135426 CM G A Missense p.P215S c.643C>T 3 113135402 LUSC G A Missense p.P904L c.2711C>T 3 113084890 CM G A Missense p.R799C c.2395C>T 3 113092307 CM G A Missense p.S118L c.353C>T 3 113145025 CM G A Missense p.S118L c.353C>T 3 113145025 LUSC G A Missense p.S757L c.2270C>T 3 113098181 BRCA G A Missense p.S757L c.2270C>T 3 113098181 THCA G A Nonsense p.Q76* c.226C>T 3 113146061 LUSC G A Nonsense p.R359* c.1075C>T 3 113122794 BRCA G A Synonymous p.A157A c.471C>T 3 113138963 CM G A Synonymous p.H295H c.885C>T 3 113127958 UCEC G A Synonymous p.I210I c.630C>T 3 113135415 CM G A Synonymous p.I925I c.2775C>T 3 113082151 CM G A Synonymous p.L425L c.1275C>T 3 113120482 LUAD G A Synonymous p.P521P c.1563C>T 3 113118759 CM G A Synonymous p.V222V c.666C>T 3 113135379 CM G C Missense p.F600L c.1800C>G 3 113114687 UCEC G C Missense p.L649V c.1945C>G 3 113099853 COREAD G C Missense p.P207R c.620C>G 3 113135425 ESCA G C Missense p.P627A c.1879C>G 3 113114608 BLCA G C Missense p.T289S c.866C>G 3 113127977 COREAD G C Nonsense p.S126* c.377C>G 3 113145001 BLCA G T IntronicSNV . c.1-2765C>A 3 113155276 CLL G T IntronicSNV . c.407+97C>A 3 113144874 CM G T Missense p.P462T c.1384C>A 3 113119482 BRCA G T Missense p.S749Y c.2246C>A 3 113098205 BRCA G T Nonsense p.S14* c.41C>A 3 113152471 CM G T Nonsense p.S1821* c.5462C>A 3 113010507 BRCA G T Synonymous p.L465L c.1395C>A 3 113119471 LUAD G T Synonymous p.L551L c.1653C>A 3 113115491 BRCA G T Synonymous p.R224R c.670C>A 3 113135375 LUSC T A 3-UTRSNV . c.5562+3548A>T 3 113006859 HC T A IntronicSNV . c.1-942A>T 3 113153453 HC T A IntronicSNV . c.2934+668A>T 3 113081324 CLL T A Synonymous p.I391I c.1173A>T 3 113120584 LUAD T C 3-UTRSNV . c.5562+533A>G 3 113009874 MB T C IntronicSNV . c.3438-1380A>G 3 113053810 CLL T C Missense p.I1099V c.3295A>G 3 113060733 BRCA T C Missense p.S924G c.2770A>G 3 113082325 CM T C Missense p.T843A c.2527A>G 3 113085074 SCLC T C Missense p.Y643C c.1928A>G 3 113099870 HNSC T G Missense p.D283A c.848A>C 3 113127995 RCCC T G Missense p.E1076A c.3227A>C 3 113063398 BRCA T G Missense p.K1668T c.5003A>C 3 113022837 RCCC T G Missense p.N148T c.443A>C 3 113138991 BRCA