Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 13 26788716 26788716 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr13:26788716C>T c.1303G>A c.(1303-1305)Gaa>Aaa p.E435K BLCA 13 26788723 26788723 + Silent SNP G G A TCGA-KQ-A41P-01A-12D-A339-08 TCGA-KQ-A41P-10F-01D-A339-08 g.chr13:26788723G>A c.1296C>T c.(1294-1296)gtC>gtT p.V432V BLCA 13 26789665 26789665 + Silent SNP C C T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 g.chr13:26789665C>T c.354G>A c.(352-354)cgG>cgA p.R118R BLCA 13 26793668 26793668 + Missense_Mutation SNP T T C TCGA-GD-A2C5-01A-12D-A17V-08 TCGA-GD-A2C5-10A-01D-A17V-08 g.chr13:26793668T>C c.119A>G c.(118-120)tAt>tGt p.Y40C BLCA 13 26793693 26793693 + Missense_Mutation SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr13:26793693C>G c.94G>C c.(94-96)Gag>Cag p.E32Q BRCA 13 26788189 26788189 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 g.chr13:26788189C>T c.1830G>A c.(1828-1830)caG>caA p.Q610Q BRCA 13 26788508 26788508 + Nonsense_Mutation SNP G G C TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 g.chr13:26788508G>C c.1511C>G c.(1510-1512)tCa>tGa p.S504* BRCA 13 26788550 26788550 + Missense_Mutation SNP C C T TCGA-A2-A25C-01A-11D-A167-09 TCGA-A2-A25C-10A-01D-A167-09 g.chr13:26788550C>T c.1469G>A c.(1468-1470)gGg>gAg p.G490E BRCA 13 26793693 26793693 + Missense_Mutation SNP C C T TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 g.chr13:26793693C>T c.94G>A c.(94-96)Gag>Aag p.E32K BRCA 13 26793710 26793710 + Missense_Mutation SNP T T C TCGA-BH-A0BS-01A-11D-A12Q-09 TCGA-BH-A0BS-11A-11D-A12Q-09 g.chr13:26793710T>C c.77A>G c.(76-78)gAg>gGg p.E26G BRCA 13 26793747 26793747 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr13:26793747C>G c.40G>C c.(40-42)Gaa>Caa p.E14Q CESC 13 26788558 26788558 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 g.chr13:26788558G>A c.1461C>T c.(1459-1461)atC>atT p.I487I CESC 13 26789310 26789310 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr13:26789310T>G c.709A>C c.(709-711)Aat>Cat p.N237H COAD 13 26787976 26787977 + Frame_Shift_Del DEL TA TA - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr13:26787976_26787977delTA c.2042_2043delTA c.(2041-2043)atafs p.I681fs COAD 13 26788214 26788214 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:26788214C>T c.1805G>A c.(1804-1806)cGa>cAa p.R602Q COAD 13 26788645 26788645 + Silent SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr13:26788645A>G c.1374T>C c.(1372-1374)agT>agC p.S458S COAD 13 26788658 26788658 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:26788658C>T c.1361G>A c.(1360-1362)cGa>cAa p.R454Q COAD 13 26788842 26788842 + Nonsense_Mutation SNP G G A TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chr13:26788842G>A c.1177C>T c.(1177-1179)Cga>Tga p.R393* COAD 13 26788932 26788932 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:26788932C>T c.1087G>A c.(1087-1089)Gca>Aca p.A363T COAD 13 26789108 26789108 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr13:26789108C>T c.911G>A c.(910-912)cGa>cAa p.R304Q COAD 13 26789159 26789159 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:26789159C>A c.860G>T c.(859-861)aGt>aTt p.S287I COAD 13 26789264 26789264 + Missense_Mutation SNP C C T TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr13:26789264C>T c.755G>A c.(754-756)cGc>cAc p.R252H COAD 13 26789265 26789265 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr13:26789265G>A c.754C>T c.(754-756)Cgc>Tgc p.R252C COAD 13 26789541 26789541 + Missense_Mutation SNP T T C TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr13:26789541T>C c.478A>G c.(478-480)Aga>Gga p.R160G COAD 13 26789577 26789577 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr13:26789577G>A c.442C>T c.(442-444)Cgg>Tgg p.R148W COAD 13 26789647 26789647 + Silent SNP A A G TCGA-AD-6965-01A-11D-1924-10 TCGA-AD-6965-10A-01D-1924-10 g.chr13:26789647A>G c.372T>C c.(370-372)acT>acC p.T124T COAD 13 26789647 26789647 + Silent SNP A A G TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr13:26789647A>G c.372T>C c.(370-372)acT>acC p.T124T COAD 13 26789647 26789647 + Silent SNP A A G TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr13:26789647A>G c.372T>C c.(370-372)acT>acC p.T124T COAD 13 26792691 26792691 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:26792691T>G c.246A>C c.(244-246)caA>caC p.Q82H COADREAD 13 26787976 26787977 + Frame_Shift_Del DEL TA TA - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr13:26787976_26787977delTA c.2042_2043delTA c.(2041-2043)atafs p.I681fs COADREAD 13 26788214 26788214 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:26788214C>T c.1805G>A c.(1804-1806)cGa>cAa p.R602Q COADREAD 13 26788240 26788241 + Frame_Shift_Ins INS - - A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr13:26788240_26788241insA c.1778_1779insT c.(1777-1779)ttafs p.L593fs COADREAD 13 26788610 26788610 + Missense_Mutation SNP T T C TCGA-AG-3574-01A-01W-0831-10 TCGA-AG-3574-10A-01W-0831-10 g.chr13:26788610T>C c.1409A>G c.(1408-1410)aAt>aGt p.N470S COADREAD 13 26788645 26788645 + Silent SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr13:26788645A>G c.1374T>C c.(1372-1374)agT>agC p.S458S COADREAD 13 26788658 26788658 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:26788658C>T c.1361G>A c.(1360-1362)cGa>cAa p.R454Q COADREAD 13 26788761 26788761 + Nonsense_Mutation SNP T T A TCGA-AH-6643-01A-11D-1826-10 TCGA-AH-6643-11A-01D-1826-10 g.chr13:26788761T>A c.1258A>T c.(1258-1260)Aga>Tga p.R420* COADREAD 13 26788842 26788842 + Nonsense_Mutation SNP G G A TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chr13:26788842G>A c.1177C>T c.(1177-1179)Cga>Tga p.R393* COADREAD 13 26788932 26788932 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr13:26788932C>T c.1087G>A c.(1087-1089)Gca>Aca p.A363T COADREAD 13 26789108 26789108 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr13:26789108C>T c.911G>A c.(910-912)cGa>cAa p.R304Q COADREAD 13 26789159 26789159 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:26789159C>A c.860G>T c.(859-861)aGt>aTt p.S287I COADREAD 13 26789264 26789264 + Missense_Mutation SNP C C T TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr13:26789264C>T c.755G>A c.(754-756)cGc>cAc p.R252H COADREAD 13 26789265 26789265 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr13:26789265G>A c.754C>T c.(754-756)Cgc>Tgc p.R252C COADREAD 13 26789541 26789541 + Missense_Mutation SNP T T C TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr13:26789541T>C c.478A>G c.(478-480)Aga>Gga p.R160G COADREAD 13 26789577 26789577 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr13:26789577G>A c.442C>T c.(442-444)Cgg>Tgg p.R148W COADREAD 13 26789647 26789647 + Silent SNP A A G TCGA-AD-6965-01A-11D-1924-10 TCGA-AD-6965-10A-01D-1924-10 g.chr13:26789647A>G c.372T>C c.(370-372)acT>acC p.T124T COADREAD 13 26789647 26789647 + Silent SNP A A G TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr13:26789647A>G c.372T>C c.(370-372)acT>acC p.T124T COADREAD 13 26789647 26789647 + Silent SNP A A G TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr13:26789647A>G c.372T>C c.(370-372)acT>acC p.T124T COADREAD 13 26792691 26792691 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:26792691T>G c.246A>C c.(244-246)caA>caC p.Q82H ESCA 13 26788056 26788056 + Missense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 g.chr13:26788056G>C c.1963C>G c.(1963-1965)Cac>Gac p.H655D ESCA 13 26788999 26788999 + Silent SNP A A T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 g.chr13:26788999A>T c.1020T>A c.(1018-1020)tcT>tcA p.S340S ESCA 13 26789577 26789577 + Silent SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 g.chr13:26789577G>T c.442C>A c.(442-444)Cgg>Agg p.R148R GBMLGG 13 26788671 26788671 + Missense_Mutation SNP G G A TCGA-HT-7688-01A-11D-2253-08 TCGA-HT-7688-10A-01D-2253-08 g.chr13:26788671G>A c.1348C>T c.(1348-1350)Cgg>Tgg p.R450W GBMLGG 13 26788928 26788928 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:26788928T>C c.1091A>G c.(1090-1092)tAt>tGt p.Y364C GBMLGG 13 26792679 26792679 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:26792679C>A c.258G>T c.(256-258)caG>caT p.Q86H HNSC 13 26788214 26788214 + Missense_Mutation SNP C C A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 g.chr13:26788214C>A c.1805G>T c.(1804-1806)cGa>cTa p.R602L HNSC 13 26788500 26788500 + Nonsense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 g.chr13:26788500G>A c.1519C>T c.(1519-1521)Caa>Taa p.Q507* HNSC 13 26789040 26789040 + Nonsense_Mutation SNP G G A TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 g.chr13:26789040G>A c.979C>T c.(979-981)Caa>Taa p.Q327* HNSC 13 26789049 26789049 + Missense_Mutation SNP G G C TCGA-BB-A5HY-01A-11D-A28R-08 TCGA-BB-A5HY-10A-01D-A28U-08 g.chr13:26789049G>C c.970C>G c.(970-972)Cat>Gat p.H324D HNSC 13 26789615 26789615 + Missense_Mutation SNP C C T TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 g.chr13:26789615C>T c.404G>A c.(403-405)aGa>aAa p.R135K HNSC 13 26793609 26793609 + Missense_Mutation SNP G G C TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 g.chr13:26793609G>C c.178C>G c.(178-180)Ctt>Gtt p.L60V HNSC 13 26793630 26793630 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr13:26793630G>C c.157C>G c.(157-159)Cgg>Ggg p.R53G HNSC 13 26793680 26793680 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 g.chr13:26793680C>G c.107G>C c.(106-108)aGa>aCa p.R36T KIPAN 13 26788332 26788332 + Missense_Mutation SNP T T A TCGA-A4-7286-01A-11D-2136-08 TCGA-A4-7286-10A-01D-2136-08 g.chr13:26788332T>A c.1687A>T c.(1687-1689)Agt>Tgt p.S563C KIPAN 13 26789216 26789216 + Missense_Mutation SNP C C A TCGA-A3-3313-01A-01D-0966-08 TCGA-A3-3313-11A-01D-0966-08 g.chr13:26789216C>A c.803G>T c.(802-804)aGg>aTg p.R268M KIRC 13 26789216 26789216 + Missense_Mutation SNP C C A TCGA-A3-3313-01A-01D-0966-08 TCGA-A3-3313-11A-01D-0966-08 g.chr13:26789216C>A c.803G>T c.(802-804)aGg>aTg p.R268M KIRP 13 26788332 26788332 + Missense_Mutation SNP T T A TCGA-A4-7286-01A-11D-2136-08 TCGA-A4-7286-10A-01D-2136-08 g.chr13:26788332T>A c.1687A>T c.(1687-1689)Agt>Tgt p.S563C LGG 13 26788671 26788671 + Missense_Mutation SNP G G A TCGA-HT-7688-01A-11D-2253-08 TCGA-HT-7688-10A-01D-2253-08 g.chr13:26788671G>A c.1348C>T c.(1348-1350)Cgg>Tgg p.R450W LGG 13 26788928 26788928 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:26788928T>C c.1091A>G c.(1090-1092)tAt>tGt p.Y364C LGG 13 26792679 26792679 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:26792679C>A c.258G>T c.(256-258)caG>caT p.Q86H LIHC 13 26788190 26788190 + Missense_Mutation SNP T T C TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chr13:26788190T>C c.1829A>G c.(1828-1830)cAg>cGg p.Q610R LIHC 13 26789149 26789149 + Silent SNP T T A TCGA-LG-A6GG-01A-11D-A30V-10 TCGA-LG-A6GG-10A-01D-A30V-10 g.chr13:26789149T>A c.870A>T c.(868-870)acA>acT p.T290T LUAD 13 26788287 26788287 + Missense_Mutation SNP C C G TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr13:26788287C>G c.1732G>C c.(1732-1734)Gtt>Ctt p.V578L LUAD 13 26788700 26788700 + Frame_Shift_Del DEL C C - TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 g.chr13:26788700delC c.1319delG c.(1318-1320)ggcfs p.G440fs LUAD 13 26789520 26789520 + Missense_Mutation SNP C C G TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 g.chr13:26789520C>G c.499G>C c.(499-501)Gaa>Caa p.E167Q LUAD 13 26789730 26789730 + Splice_Site SNP C C A TCGA-86-8054-01A-11D-2238-08 TCGA-86-8054-10A-01D-2238-08 g.chr13:26789730C>A c.e5-1 LUSC 13 26788682 26788682 + Missense_Mutation SNP G G C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr13:26788682G>C c.1337C>G c.(1336-1338)tCt>tGt p.S446C OV 13 26789649 26789649 + Missense_Mutation SNP T T C TCGA-25-2399-01A-01W-0799-08 TCGA-25-2399-10A-01W-0799-08 g.chr13:26789649T>C c.370A>G c.(370-372)Act>Gct p.T124A PAAD 13 26788516 26788516 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr13:26788516A>C c.1503T>G c.(1501-1503)gaT>gaG p.D501E PRAD 13 26788080 26788080 + Nonsense_Mutation SNP G G A TCGA-EJ-5525-01A-01D-1576-08 TCGA-EJ-5525-10A-01D-1577-08 g.chr13:26788080G>A c.1939C>T c.(1939-1941)Caa>Taa p.Q647* PRAD 13 26789603 26789603 + Missense_Mutation SNP C C T TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 g.chr13:26789603C>T c.416G>A c.(415-417)cGa>cAa p.R139Q PRAD 13 26793670 26793670 + Silent SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr13:26793670G>T c.117C>A c.(115-117)gcC>gcA p.A39A READ 13 26788240 26788241 + Frame_Shift_Ins INS - - A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr13:26788240_26788241insA c.1778_1779insT c.(1777-1779)ttafs p.L593fs READ 13 26788610 26788610 + Missense_Mutation SNP T T C TCGA-AG-3574-01A-01W-0831-10 TCGA-AG-3574-10A-01W-0831-10 g.chr13:26788610T>C c.1409A>G c.(1408-1410)aAt>aGt p.N470S READ 13 26788761 26788761 + Nonsense_Mutation SNP T T A TCGA-AH-6643-01A-11D-1826-10 TCGA-AH-6643-11A-01D-1826-10 g.chr13:26788761T>A c.1258A>T c.(1258-1260)Aga>Tga p.R420* SKCM 13 26788126 26788126 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr13:26788126G>A c.1893C>T c.(1891-1893)atC>atT p.I631I SKCM 13 26788621 26788621 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr13:26788621C>T c.1398G>A c.(1396-1398)agG>agA p.R466R SKCM 13 26788680 26788680 + Missense_Mutation SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr13:26788680G>A c.1339C>T c.(1339-1341)Cgt>Tgt p.R447C SKCM 13 26788868 26788868 + Missense_Mutation SNP G G A TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr13:26788868G>A c.1151C>T c.(1150-1152)tCc>tTc p.S384F SKCM 13 26789042 26789042 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr13:26789042G>A c.977C>T c.(976-978)tCc>tTc p.S326F SKCM 13 26789091 26789091 + Nonsense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr13:26789091G>A c.928C>T c.(928-930)Cga>Tga p.R310* SKCM 13 26789453 26789453 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr13:26789453G>A c.566C>T c.(565-567)tCa>tTa p.S189L SKCM 13 26789559 26789559 + Missense_Mutation SNP G G A TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 g.chr13:26789559G>A c.460C>T c.(460-462)Cac>Tac p.H154Y

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 13 26788716 26788716 single base substitution C T downstream_gene_variant BLCA-US 13 26788716 26788716 single base substitution C T intron_variant BLCA-US 13 26788716 26788716 single base substitution C T missense_variant E435K 1303G>A BLCA-US 13 26788716 26788716 single base substitution C T missense_variant E79K 235G>A BLCA-US 13 26793668 26793668 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 13 26793668 26793668 single base substitution T C downstream_gene_variant BLCA-US 13 26793668 26793668 single base substitution T C exon_variant BLCA-US 13 26793668 26793668 single base substitution T C missense_variant Y40C 119A>G BOCA-FR 13 26703634 26703634 single base substitution G T downstream_gene_variant BOCA-FR 13 26758510 26758510 single base substitution T C intron_variant BRCA-EU 13 26701376 26701376 single base substitution C T downstream_gene_variant BRCA-EU 13 26701653 26701653 single base substitution G A downstream_gene_variant BRCA-EU 13 26702536 26702536 single base substitution C T downstream_gene_variant BRCA-EU 13 26703293 26703293 insertion of <=200bp - C downstream_gene_variant BRCA-EU 13 26703355 26703355 single base substitution A T downstream_gene_variant BRCA-EU 13 26705744 26705744 single base substitution C G downstream_gene_variant BRCA-EU 13 26707411 26707411 single base substitution T G intron_variant BRCA-EU 13 26708705 26708705 single base substitution G C intron_variant BRCA-EU 13 26710065 26710065 single base substitution C G intron_variant BRCA-EU 13 26710531 26710531 single base substitution T C intron_variant BRCA-EU 13 26711222 26711222 single base substitution C T intron_variant BRCA-EU 13 26712598 26712598 single base substitution G C intron_variant BRCA-EU 13 26714967 26714967 single base substitution G C intron_variant BRCA-EU 13 26714986 26714986 single base substitution G C intron_variant BRCA-EU 13 26715059 26715059 single base substitution G A intron_variant BRCA-EU 13 26715593 26715593 single base substitution G A intron_variant BRCA-EU 13 26715774 26715774 single base substitution C A intron_variant BRCA-EU 13 26716492 26716492 single base substitution A G intron_variant BRCA-EU 13 26716682 26716682 single base substitution A G intron_variant BRCA-EU 13 26717281 26717281 single base substitution G A intron_variant BRCA-EU 13 26717650 26717650 single base substitution G A intron_variant BRCA-EU 13 26718755 26718755 single base substitution T G intron_variant BRCA-EU 13 26718772 26718772 single base substitution C T intron_variant BRCA-EU 13 26719741 26719741 single base substitution G A intron_variant BRCA-EU 13 26721953 26721953 single base substitution C A intron_variant BRCA-EU 13 26722492 26722492 single base substitution T G intron_variant BRCA-EU 13 26723100 26723100 deletion of <=200bp T - intron_variant BRCA-EU 13 26724467 26724467 single base substitution G A intron_variant BRCA-EU 13 26725000 26725000 insertion of <=200bp - T intron_variant BRCA-EU 13 26726386 26726386 single base substitution G A intron_variant BRCA-EU 13 26727163 26727163 single base substitution C G intron_variant BRCA-EU 13 26727196 26727196 single base substitution C A intron_variant BRCA-EU 13 26728976 26728976 single base substitution T A intron_variant BRCA-EU 13 26729860 26729860 single base substitution T G intron_variant BRCA-EU 13 26730323 26730323 single base substitution A G intron_variant BRCA-EU 13 26731409 26731409 single base substitution T A intron_variant BRCA-EU 13 26732863 26732864 deletion of <=200bp GT - intron_variant BRCA-EU 13 26733260 26733260 single base substitution C T intron_variant BRCA-EU 13 26733536 26733536 single base substitution G A intron_variant BRCA-EU 13 26734305 26734305 single base substitution A T intron_variant BRCA-EU 13 26735248 26735248 single base substitution G A intron_variant BRCA-EU 13 26735351 26735351 single base substitution T C intron_variant BRCA-EU 13 26735475 26735475 single base substitution C A intron_variant BRCA-EU 13 26735781 26735781 single base substitution C G intron_variant BRCA-EU 13 26737214 26737214 single base substitution G A intron_variant BRCA-EU 13 26737305 26737305 single base substitution C A intron_variant BRCA-EU 13 26738174 26738174 single base substitution A C intron_variant BRCA-EU 13 26738260 26738260 single base substitution C A intron_variant BRCA-EU 13 26744420 26744420 single base substitution C G intron_variant BRCA-EU 13 26746228 26746228 single base substitution G A intron_variant BRCA-EU 13 26747072 26747072 deletion of <=200bp A - intron_variant BRCA-EU 13 26747172 26747172 single base substitution T C intron_variant BRCA-EU 13 26747291 26747291 single base substitution C T intron_variant BRCA-EU 13 26749460 26749460 single base substitution T C intron_variant BRCA-EU 13 26750410 26750410 single base substitution A T intron_variant BRCA-EU 13 26750904 26750932 deletion of <=200bp CTACTAAAAATACAAAAATTAGCCAAGTG - intron_variant BRCA-EU 13 26752707 26752707 single base substitution G A intron_variant BRCA-EU 13 26752919 26752919 single base substitution C G intron_variant BRCA-EU 13 26753468 26753468 single base substitution C T intron_variant BRCA-EU 13 26753989 26753989 single base substitution A T intron_variant BRCA-EU 13 26754458 26754458 single base substitution T C intron_variant BRCA-EU 13 26756096 26756096 insertion of <=200bp - A intron_variant BRCA-EU 13 26756101 26756101 single base substitution C T intron_variant BRCA-EU 13 26756145 26756145 single base substitution C T intron_variant BRCA-EU 13 26756412 26756412 single base substitution G C intron_variant BRCA-EU 13 26757402 26757402 single base substitution A C intron_variant BRCA-EU 13 26757918 26757918 single base substitution C A intron_variant BRCA-EU 13 26760072 26760072 single base substitution C T intron_variant BRCA-EU 13 26760127 26760127 single base substitution C T intron_variant BRCA-EU 13 26760598 26760598 single base substitution C T intron_variant BRCA-EU 13 26761543 26761543 single base substitution G T intron_variant BRCA-EU 13 26761557 26761557 deletion of <=200bp G - intron_variant BRCA-EU 13 26762930 26762930 single base substitution T C intron_variant BRCA-EU 13 26765530 26765530 single base substitution G C intron_variant BRCA-EU 13 26765719 26765719 single base substitution C G intron_variant BRCA-EU 13 26768979 26768979 single base substitution A G intron_variant BRCA-EU 13 26775250 26775250 single base substitution A C intron_variant BRCA-EU 13 26776396 26776396 single base substitution T A intron_variant BRCA-EU 13 26777459 26777459 single base substitution G C intron_variant BRCA-EU 13 26778354 26778354 single base substitution C T intron_variant BRCA-EU 13 26780062 26780062 single base substitution C T intron_variant BRCA-EU 13 26780166 26780166 single base substitution C G intron_variant BRCA-EU 13 26781173 26781173 single base substitution G A intron_variant BRCA-EU 13 26781464 26781464 single base substitution G A intron_variant BRCA-EU 13 26781471 26781471 single base substitution C A intron_variant BRCA-EU 13 26782385 26782385 single base substitution C T downstream_gene_variant BRCA-EU 13 26782385 26782385 single base substitution C T intron_variant BRCA-EU 13 26783767 26783767 single base substitution C G downstream_gene_variant BRCA-EU 13 26783767 26783767 single base substitution C G intron_variant BRCA-EU 13 26784779 26784779 single base substitution T G downstream_gene_variant BRCA-EU 13 26784779 26784779 single base substitution T G intron_variant BRCA-EU 13 26784989 26784989 single base substitution G T downstream_gene_variant BRCA-EU 13 26784989 26784989 single base substitution G T intron_variant BRCA-EU 13 26786281 26786281 single base substitution C T downstream_gene_variant BRCA-EU 13 26786281 26786281 single base substitution C T intron_variant BRCA-EU 13 26787973 26787973 single base substitution T G downstream_gene_variant BRCA-EU 13 26787973 26787973 single base substitution T G intron_variant BRCA-EU 13 26787973 26787973 single base substitution T G synonymous_variant A326A 978A>C BRCA-EU 13 26787973 26787973 single base substitution T G synonymous_variant A682A 2046A>C BRCA-EU 13 26789667 26789667 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 13 26789667 26789667 single base substitution G A downstream_gene_variant BRCA-EU 13 26789667 26789667 single base substitution G A exon_variant BRCA-EU 13 26789667 26789667 single base substitution G A missense_variant R118W 352C>T BRCA-EU 13 26790251 26790251 single base substitution G C downstream_gene_variant BRCA-EU 13 26790251 26790251 single base substitution G C intron_variant BRCA-EU 13 26791709 26791709 single base substitution C T downstream_gene_variant BRCA-EU 13 26791709 26791709 single base substitution C T intron_variant BRCA-EU 13 26792670 26792670 single base substitution C T 5_prime_UTR_variant BRCA-EU 13 26792670 26792670 single base substitution C T downstream_gene_variant BRCA-EU 13 26792670 26792670 single base substitution C T exon_variant BRCA-EU 13 26792670 26792670 single base substitution C T synonymous_variant L89L 267G>A BRCA-EU 13 26793584 26793584 single base substitution C T downstream_gene_variant BRCA-EU 13 26793584 26793584 single base substitution C T exon_variant BRCA-EU 13 26793584 26793584 single base substitution C T intron_variant BRCA-EU 13 26794119 26794119 single base substitution C T downstream_gene_variant BRCA-EU 13 26794119 26794119 single base substitution C T intron_variant BRCA-EU 13 26794499 26794499 single base substitution T A downstream_gene_variant BRCA-EU 13 26794499 26794499 single base substitution T A intron_variant BRCA-EU 13 26795449 26795449 deletion of <=200bp T - 5_prime_UTR_variant BRCA-EU 13 26795449 26795449 deletion of <=200bp T - exon_variant BRCA-EU 13 26796711 26796711 single base substitution C G 5_prime_UTR_variant BRCA-EU 13 26796711 26796711 single base substitution C G upstream_gene_variant BRCA-EU 13 26796816 26796816 single base substitution A C upstream_gene_variant BRCA-EU 13 26797342 26797342 single base substitution G T upstream_gene_variant BRCA-EU 13 26797746 26797746 single base substitution C T upstream_gene_variant BRCA-EU 13 26798496 26798496 single base substitution A C upstream_gene_variant BRCA-EU 13 26798922 26798922 single base substitution A T upstream_gene_variant BRCA-EU 13 26799341 26799341 insertion of <=200bp - A upstream_gene_variant BRCA-EU 13 26799456 26799456 single base substitution G A upstream_gene_variant BRCA-EU 13 26799634 26799634 single base substitution G A upstream_gene_variant BRCA-EU 13 26801004 26801004 single base substitution G A upstream_gene_variant BRCA-EU 13 26801081 26801081 single base substitution C T upstream_gene_variant BRCA-FR 13 26708705 26708705 single base substitution G C intron_variant BRCA-FR 13 26710065 26710065 single base substitution C G intron_variant BRCA-FR 13 26710531 26710531 single base substitution T C intron_variant BRCA-FR 13 26716628 26716628 single base substitution G T intron_variant BRCA-FR 13 26722492 26722492 single base substitution T G intron_variant BRCA-FR 13 26735475 26735475 single base substitution C A intron_variant BRCA-FR 13 26735781 26735781 single base substitution C G intron_variant BRCA-FR 13 26746228 26746228 single base substitution G A intron_variant BRCA-FR 13 26747172 26747172 single base substitution T C intron_variant BRCA-FR 13 26768933 26768933 single base substitution C G intron_variant BRCA-FR 13 26783767 26783767 single base substitution C G downstream_gene_variant BRCA-FR 13 26783767 26783767 single base substitution C G intron_variant BRCA-FR 13 26790251 26790251 single base substitution G C downstream_gene_variant BRCA-FR 13 26790251 26790251 single base substitution G C intron_variant BRCA-FR 13 26792670 26792670 single base substitution C T 5_prime_UTR_variant BRCA-FR 13 26792670 26792670 single base substitution C T downstream_gene_variant BRCA-FR 13 26792670 26792670 single base substitution C T exon_variant BRCA-FR 13 26792670 26792670 single base substitution C T synonymous_variant L89L 267G>A BRCA-UK 13 26707411 26707411 single base substitution T G intron_variant BRCA-UK 13 26725000 26725000 insertion of <=200bp - T intron_variant BRCA-UK 13 26729512 26729512 single base substitution C G intron_variant BRCA-UK 13 26766642 26766642 single base substitution C G intron_variant BRCA-UK 13 26789526 26789526 single base substitution G C downstream_gene_variant BRCA-UK 13 26789526 26789526 single base substitution G C exon_variant BRCA-UK 13 26789526 26789526 single base substitution G C intron_variant BRCA-UK 13 26789526 26789526 single base substitution G C missense_variant H165D 493C>G BRCA-UK 13 26795937 26795937 single base substitution C T 5_prime_UTR_variant BRCA-UK 13 26795937 26795937 single base substitution C T exon_variant BRCA-UK 13 26795937 26795937 single base substitution C T intron_variant BRCA-UK 13 26795937 26795937 single base substitution C T upstream_gene_variant BRCA-US 13 26788189 26788189 single base substitution C T downstream_gene_variant BRCA-US 13 26788189 26788189 single base substitution C T intron_variant BRCA-US 13 26788189 26788189 single base substitution C T synonymous_variant Q254Q 762G>A BRCA-US 13 26788189 26788189 single base substitution C T synonymous_variant Q610Q 1830G>A BRCA-US 13 26788508 26788508 single base substitution G C downstream_gene_variant BRCA-US 13 26788508 26788508 single base substitution G C intron_variant BRCA-US 13 26788508 26788508 single base substitution G C stop_gained S148* 443C>G BRCA-US 13 26788508 26788508 single base substitution G C stop_gained S504* 1511C>G BRCA-US 13 26788550 26788550 single base substitution C T downstream_gene_variant BRCA-US 13 26788550 26788550 single base substitution C T intron_variant BRCA-US 13 26788550 26788550 single base substitution C T missense_variant G134E 401G>A BRCA-US 13 26788550 26788550 single base substitution C T missense_variant G490E 1469G>A BRCA-US 13 26793693 26793693 single base substitution C T 5_prime_UTR_variant BRCA-US 13 26793693 26793693 single base substitution C T downstream_gene_variant BRCA-US 13 26793693 26793693 single base substitution C T exon_variant BRCA-US 13 26793693 26793693 single base substitution C T missense_variant E32K 94G>A BRCA-US 13 26793710 26793710 single base substitution T C 5_prime_UTR_variant BRCA-US 13 26793710 26793710 single base substitution T C downstream_gene_variant BRCA-US 13 26793710 26793710 single base substitution T C exon_variant BRCA-US 13 26793710 26793710 single base substitution T C missense_variant E26G 77A>G BRCA-US 13 26793747 26793747 single base substitution C G 5_prime_UTR_variant BRCA-US 13 26793747 26793747 single base substitution C G downstream_gene_variant BRCA-US 13 26793747 26793747 single base substitution C G exon_variant BRCA-US 13 26793747 26793747 single base substitution C G missense_variant E14Q 40G>C BTCA-JP 13 26788241 26788241 deletion of <=200bp A - downstream_gene_variant BTCA-JP 13 26788241 26788241 deletion of <=200bp A - frameshift_variant L237 BTCA-JP 13 26788241 26788241 deletion of <=200bp A - frameshift_variant L593 BTCA-JP 13 26788241 26788241 deletion of <=200bp A - intron_variant BTCA-JP 13 26789103 26789103 single base substitution T C downstream_gene_variant BTCA-JP 13 26789103 26789103 single base substitution T C intron_variant BTCA-JP 13 26789103 26789103 single base substitution T C missense_variant T306A 916A>G BTCA-JP 13 26789265 26789265 single base substitution G A downstream_gene_variant BTCA-JP 13 26789265 26789265 single base substitution G A intron_variant BTCA-JP 13 26789265 26789265 single base substitution G A missense_variant R252C 754C>T BTCA-JP 13 26789272 26789272 single base substitution G A downstream_gene_variant BTCA-JP 13 26789272 26789272 single base substitution G A intron_variant BTCA-JP 13 26789272 26789272 single base substitution G A synonymous_variant N249N 747C>T BTCA-JP 13 26789494 26789494 single base substitution T G downstream_gene_variant BTCA-JP 13 26789494 26789494 single base substitution T G exon_variant BTCA-JP 13 26789494 26789494 single base substitution T G intron_variant BTCA-JP 13 26789494 26789494 single base substitution T G synonymous_variant S175S 525A>C BTCA-JP 13 26792556 26792556 single base substitution T C downstream_gene_variant BTCA-JP 13 26792556 26792556 single base substitution T C intron_variant CESC-US 13 26788558 26788558 single base substitution G A downstream_gene_variant CESC-US 13 26788558 26788558 single base substitution G A intron_variant CESC-US 13 26788558 26788558 single base substitution G A synonymous_variant I131I 393C>T CESC-US 13 26788558 26788558 single base substitution G A synonymous_variant I487I 1461C>T CESC-US 13 26789310 26789310 single base substitution T G downstream_gene_variant CESC-US 13 26789310 26789310 single base substitution T G exon_variant CESC-US 13 26789310 26789310 single base substitution T G intron_variant CESC-US 13 26789310 26789310 single base substitution T G missense_variant N237H 709A>C CLLE-ES 13 26703732 26703732 single base substitution C T downstream_gene_variant CLLE-ES 13 26707944 26707944 single base substitution G A intron_variant CLLE-ES 13 26717806 26717806 single base substitution C A intron_variant CLLE-ES 13 26766697 26766697 single base substitution A G intron_variant CLLE-ES 13 26774726 26774727 deletion of <=200bp AG - intron_variant CLLE-ES 13 26783783 26783783 single base substitution C T downstream_gene_variant CLLE-ES 13 26783783 26783783 single base substitution C T intron_variant CLLE-ES 13 26790710 26790710 single base substitution T C downstream_gene_variant CLLE-ES 13 26790710 26790710 single base substitution T C intron_variant COAD-US 13 26787976 26787977 deletion of <=200bp TA - downstream_gene_variant COAD-US 13 26787976 26787977 deletion of <=200bp TA - frameshift_variant I325 COAD-US 13 26787976 26787977 deletion of <=200bp TA - frameshift_variant I681 COAD-US 13 26787976 26787977 deletion of <=200bp TA - intron_variant COAD-US 13 26788114 26788114 single base substitution A G downstream_gene_variant COAD-US 13 26788114 26788114 single base substitution A G intron_variant COAD-US 13 26788114 26788114 single base substitution A G synonymous_variant C279C 837T>C COAD-US 13 26788114 26788114 single base substitution A G synonymous_variant C635C 1905T>C COAD-US 13 26788214 26788214 single base substitution C T downstream_gene_variant COAD-US 13 26788214 26788214 single base substitution C T intron_variant COAD-US 13 26788214 26788214 single base substitution C T missense_variant R246Q 737G>A COAD-US 13 26788214 26788214 single base substitution C T missense_variant R602Q 1805G>A COAD-US 13 26788572 26788572 single base substitution T A downstream_gene_variant COAD-US 13 26788572 26788572 single base substitution T A intron_variant COAD-US 13 26788572 26788572 single base substitution T A missense_variant I127F 379A>T COAD-US 13 26788572 26788572 single base substitution T A missense_variant I483F 1447A>T COAD-US 13 26788842 26788842 single base substitution G A downstream_gene_variant COAD-US 13 26788842 26788842 single base substitution G A intron_variant COAD-US 13 26788842 26788842 single base substitution G A stop_gained R37* 109C>T COAD-US 13 26788842 26788842 single base substitution G A stop_gained R393* 1177C>T COAD-US 13 26788932 26788932 single base substitution C T downstream_gene_variant COAD-US 13 26788932 26788932 single base substitution C T intron_variant COAD-US 13 26788932 26788932 single base substitution C T missense_variant A363T 1087G>A COAD-US 13 26789108 26789108 single base substitution C T downstream_gene_variant COAD-US 13 26789108 26789108 single base substitution C T intron_variant COAD-US 13 26789108 26789108 single base substitution C T missense_variant R304Q 911G>A COCA-CN 13 26706651 26706651 single base substitution T G intron_variant COCA-CN 13 26740358 26740358 single base substitution G A intron_variant COCA-CN 13 26788214 26788214 single base substitution C T downstream_gene_variant COCA-CN 13 26788214 26788214 single base substitution C T intron_variant COCA-CN 13 26788214 26788214 single base substitution C T missense_variant R246Q 737G>A COCA-CN 13 26788214 26788214 single base substitution C T missense_variant R602Q 1805G>A COCA-CN 13 26788337 26788337 single base substitution C T downstream_gene_variant COCA-CN 13 26788337 26788337 single base substitution C T intron_variant COCA-CN 13 26788337 26788337 single base substitution C T missense_variant R205Q 614G>A COCA-CN 13 26788337 26788337 single base substitution C T missense_variant R561Q 1682G>A COCA-CN 13 26788471 26788471 single base substitution C T downstream_gene_variant COCA-CN 13 26788471 26788471 single base substitution C T intron_variant COCA-CN 13 26788471 26788471 single base substitution C T missense_variant M160I 480G>A COCA-CN 13 26788471 26788471 single base substitution C T missense_variant M516I 1548G>A COCA-CN 13 26788778 26788778 single base substitution C T downstream_gene_variant COCA-CN 13 26788778 26788778 single base substitution C T intron_variant COCA-CN 13 26788778 26788778 single base substitution C T missense_variant R414Q 1241G>A COCA-CN 13 26788778 26788778 single base substitution C T missense_variant R58Q 173G>A COCA-CN 13 26788844 26788844 single base substitution C T downstream_gene_variant COCA-CN 13 26788844 26788844 single base substitution C T intron_variant COCA-CN 13 26788844 26788844 single base substitution C T missense_variant R36Q 107G>A COCA-CN 13 26788844 26788844 single base substitution C T missense_variant R392Q 1175G>A COCA-CN 13 26789722 26789722 single base substitution T G 5_prime_UTR_variant COCA-CN 13 26789722 26789722 single base substitution T G downstream_gene_variant COCA-CN 13 26789722 26789722 single base substitution T G exon_variant COCA-CN 13 26789722 26789722 single base substitution T G missense_variant E99D 297A>C EOPC-DE 13 26707793 26707793 single base substitution C G intron_variant EOPC-DE 13 26707859 26707859 single base substitution C T intron_variant ESAD-UK 13 26701561 26701561 single base substitution A T downstream_gene_variant ESAD-UK 13 26702738 26702738 single base substitution A C downstream_gene_variant ESAD-UK 13 26703047 26703047 single base substitution G A downstream_gene_variant ESAD-UK 13 26703443 26703443 single base substitution G A downstream_gene_variant ESAD-UK 13 26703583 26703583 single base substitution G T downstream_gene_variant ESAD-UK 13 26703634 26703634 single base substitution G T downstream_gene_variant ESAD-UK 13 26703775 26703775 single base substitution T C downstream_gene_variant ESAD-UK 13 26704068 26704068 single base substitution A C downstream_gene_variant ESAD-UK 13 26704263 26704263 single base substitution A T downstream_gene_variant ESAD-UK 13 26704301 26704301 single base substitution A C downstream_gene_variant ESAD-UK 13 26704311 26704311 deletion of <=200bp A - downstream_gene_variant ESAD-UK 13 26704625 26704625 single base substitution C T downstream_gene_variant ESAD-UK 13 26705376 26705376 single base substitution G C downstream_gene_variant ESAD-UK 13 26707836 26707836 single base substitution G T intron_variant ESAD-UK 13 26707870 26707870 single base substitution T A intron_variant ESAD-UK 13 26708132 26708132 single base substitution A G intron_variant ESAD-UK 13 26708498 26708498 single base substitution G A intron_variant ESAD-UK 13 26709306 26709306 single base substitution G A intron_variant ESAD-UK 13 26709533 26709533 single base substitution C T intron_variant ESAD-UK 13 26710650 26710650 single base substitution C T intron_variant ESAD-UK 13 26711274 26711274 single base substitution T A intron_variant ESAD-UK 13 26711743 26711743 single base substitution A T intron_variant ESAD-UK 13 26712066 26712066 single base substitution A G intron_variant ESAD-UK 13 26712646 26712646 single base substitution T G intron_variant ESAD-UK 13 26713471 26713471 insertion of <=200bp - T intron_variant ESAD-UK 13 26714179 26714179 single base substitution T A intron_variant ESAD-UK 13 26715746 26715746 single base substitution T G intron_variant ESAD-UK 13 26716336 26716336 single base substitution G C intron_variant ESAD-UK 13 26717213 26717213 single base substitution A G intron_variant ESAD-UK 13 26717734 26717734 single base substitution T C intron_variant ESAD-UK 13 26717926 26717926 single base substitution G A intron_variant ESAD-UK 13 26717932 26717932 single base substitution A C intron_variant ESAD-UK 13 26718408 26718408 insertion of <=200bp - A intron_variant ESAD-UK 13 26719396 26719396 single base substitution C T intron_variant ESAD-UK 13 26719536 26719536 single base substitution C T intron_variant ESAD-UK 13 26719547 26719547 single base substitution G T intron_variant ESAD-UK 13 26720781 26720781 single base substitution A C intron_variant ESAD-UK 13 26721257 26721257 single base substitution T G intron_variant ESAD-UK 13 26721394 26721394 single base substitution A G intron_variant ESAD-UK 13 26721563 26721563 single base substitution A G intron_variant ESAD-UK 13 26721664 26721664 single base substitution G T intron_variant ESAD-UK 13 26721705 26721705 single base substitution C G intron_variant ESAD-UK 13 26724055 26724055 insertion of <=200bp - TG intron_variant ESAD-UK 13 26725680 26725680 single base substitution C T intron_variant ESAD-UK 13 26727354 26727354 insertion of <=200bp - TTATG intron_variant ESAD-UK 13 26728892 26728892 single base substitution G A intron_variant ESAD-UK 13 26730778 26730778 single base substitution G T intron_variant ESAD-UK 13 26730822 26730822 single base substitution T C intron_variant ESAD-UK 13 26731165 26731165 single base substitution A C intron_variant ESAD-UK 13 26731520 26731520 single base substitution C G intron_variant ESAD-UK 13 26732268 26732268 single base substitution G A intron_variant ESAD-UK 13 26732863 26732864 deletion of <=200bp GT - intron_variant ESAD-UK 13 26733555 26733555 single base substitution G A intron_variant ESAD-UK 13 26733613 26733613 single base substitution A C intron_variant ESAD-UK 13 26733741 26733741 single base substitution C G intron_variant ESAD-UK 13 26733746 26733746 single base substitution G C intron_variant ESAD-UK 13 26734224 26734224 single base substitution C T intron_variant ESAD-UK 13 26734597 26734597 single base substitution A C intron_variant ESAD-UK 13 26737071 26737071 single base substitution T C intron_variant ESAD-UK 13 26737230 26737230 single base substitution G A intron_variant ESAD-UK 13 26737513 26737513 single base substitution G C intron_variant ESAD-UK 13 26737671 26737671 single base substitution G C intron_variant ESAD-UK 13 26737970 26737970 single base substitution G T intron_variant ESAD-UK 13 26738184 26738184 single base substitution C T intron_variant ESAD-UK 13 26739216 26739216 single base substitution C T intron_variant ESAD-UK 13 26739223 26739223 single base substitution C A intron_variant ESAD-UK 13 26741614 26741614 single base substitution A C intron_variant ESAD-UK 13 26742388 26742388 single base substitution G T intron_variant ESAD-UK 13 26742552 26742552 single base substitution A T intron_variant ESAD-UK 13 26742861 26742861 single base substitution G A intron_variant ESAD-UK 13 26743592 26743592 single base substitution T G intron_variant ESAD-UK 13 26743794 26743794 single base substitution T G intron_variant ESAD-UK 13 26744513 26744513 single base substitution C T intron_variant ESAD-UK 13 26744631 26744631 single base substitution G A intron_variant ESAD-UK 13 26744831 26744831 single base substitution C T intron_variant ESAD-UK 13 26745130 26745130 single base substitution G A intron_variant ESAD-UK 13 26747796 26747796 single base substitution T C intron_variant ESAD-UK 13 26747832 26747832 single base substitution A G intron_variant ESAD-UK 13 26749471 26749471 single base substitution G T intron_variant ESAD-UK 13 26749472 26749472 single base substitution G T intron_variant ESAD-UK 13 26750024 26750024 single base substitution T G intron_variant ESAD-UK 13 26750849 26750849 single base substitution C A intron_variant ESAD-UK 13 26750869 26750869 single base substitution A G intron_variant ESAD-UK 13 26755237 26755237 deletion of <=200bp G - intron_variant ESAD-UK 13 26755339 26755339 single base substitution A G intron_variant ESAD-UK 13 26755546 26755546 single base substitution G A intron_variant ESAD-UK 13 26757698 26757698 single base substitution G A intron_variant ESAD-UK 13 26758214 26758214 single base substitution A G intron_variant ESAD-UK 13 26758411 26758411 single base substitution G A intron_variant ESAD-UK 13 26758683 26758683 single base substitution T C intron_variant ESAD-UK 13 26759203 26759203 single base substitution G A intron_variant ESAD-UK 13 26759577 26759577 insertion of <=200bp - T intron_variant ESAD-UK 13 26759584 26759584 single base substitution T A intron_variant ESAD-UK 13 26762086 26762086 insertion of <=200bp - A intron_variant ESAD-UK 13 26763320 26763320 single base substitution C T intron_variant ESAD-UK 13 26766246 26766246 single base substitution A C intron_variant ESAD-UK 13 26766622 26766622 single base substitution C T intron_variant ESAD-UK 13 26767078 26767078 single base substitution A C intron_variant ESAD-UK 13 26767791 26767791 single base substitution G T intron_variant ESAD-UK 13 26770342 26770342 single base substitution T G intron_variant ESAD-UK 13 26771070 26771070 single base substitution C A intron_variant ESAD-UK 13 26771252 26771252 single base substitution C T intron_variant ESAD-UK 13 26772288 26772288 single base substitution C T intron_variant ESAD-UK 13 26772599 26772599 single base substitution G C intron_variant ESAD-UK 13 26772800 26772800 deletion of <=200bp A - intron_variant ESAD-UK 13 26772808 26772808 single base substitution C A intron_variant ESAD-UK 13 26775033 26775033 single base substitution G T intron_variant ESAD-UK 13 26775655 26775655 single base substitution A C intron_variant ESAD-UK 13 26776108 26776108 single base substitution T C intron_variant ESAD-UK 13 26776397 26776397 single base substitution G A intron_variant ESAD-UK 13 26776614 26776647 deletion of <=200bp AAGTTTTGTGGCTATGCCAGGTTCCTGAAATCCT - intron_variant ESAD-UK 13 26777603 26777603 single base substitution A C intron_variant ESAD-UK 13 26778526 26778526 single base substitution C T intron_variant ESAD-UK 13 26779016 26779016 single base substitution C G intron_variant ESAD-UK 13 26780157 26780157 single base substitution T A intron_variant ESAD-UK 13 26781105 26781105 single base substitution A T intron_variant ESAD-UK 13 26781927 26781927 single base substitution G A downstream_gene_variant ESAD-UK 13 26781927 26781927 single base substitution G A intron_variant ESAD-UK 13 26781933 26781933 single base substitution G T downstream_gene_variant ESAD-UK 13 26781933 26781933 single base substitution G T intron_variant ESAD-UK 13 26782219 26782221 deletion of <=200bp AGA - downstream_gene_variant ESAD-UK 13 26782219 26782221 deletion of <=200bp AGA - intron_variant ESAD-UK 13 26783358 26783358 single base substitution T C downstream_gene_variant ESAD-UK 13 26783358 26783358 single base substitution T C intron_variant ESAD-UK 13 26785011 26785011 insertion of <=200bp - A downstream_gene_variant ESAD-UK 13 26785011 26785011 insertion of <=200bp - A intron_variant ESAD-UK 13 26787256 26787256 single base substitution A C 3_prime_UTR_variant ESAD-UK 13 26787256 26787256 single base substitution A C downstream_gene_variant ESAD-UK 13 26787256 26787256 single base substitution A C intron_variant ESAD-UK 13 26790203 26790203 single base substitution T G downstream_gene_variant ESAD-UK 13 26790203 26790203 single base substitution T G intron_variant ESAD-UK 13 26792556 26792556 single base substitution T A downstream_gene_variant ESAD-UK 13 26792556 26792556 single base substitution T A intron_variant ESAD-UK 13 26793493 26793493 single base substitution A C downstream_gene_variant ESAD-UK 13 26793493 26793493 single base substitution A C exon_variant ESAD-UK 13 26793493 26793493 single base substitution A C intron_variant ESAD-UK 13 26794506 26794506 single base substitution T C downstream_gene_variant ESAD-UK 13 26794506 26794506 single base substitution T C intron_variant ESAD-UK 13 26795871 26795871 single base substitution A C intron_variant ESAD-UK 13 26795871 26795871 single base substitution A C upstream_gene_variant ESAD-UK 13 26796476 26796476 single base substitution G T 5_prime_UTR_variant ESAD-UK 13 26796476 26796476 single base substitution G T upstream_gene_variant ESAD-UK 13 26796606 26796606 single base substitution T G 5_prime_UTR_variant ESAD-UK 13 26796606 26796606 single base substitution T G upstream_gene_variant ESAD-UK 13 26797529 26797529 single base substitution C T upstream_gene_variant ESAD-UK 13 26797763 26797763 single base substitution T C upstream_gene_variant ESAD-UK 13 26798534 26798534 single base substitution G A upstream_gene_variant ESAD-UK 13 26798700 26798700 single base substitution G T upstream_gene_variant ESAD-UK 13 26798920 26798920 single base substitution G C upstream_gene_variant ESAD-UK 13 26799241 26799241 single base substitution C G upstream_gene_variant ESAD-UK 13 26800356 26800356 single base substitution C T upstream_gene_variant ESAD-UK 13 26800687 26800687 single base substitution T G upstream_gene_variant ESAD-UK 13 26801150 26801150 single base substitution G C upstream_gene_variant ESCA-CN 13 26788514 26788514 single base substitution G C downstream_gene_variant ESCA-CN 13 26788514 26788514 single base substitution G C intron_variant ESCA-CN 13 26788514 26788514 single base substitution G C missense_variant S146C 437C>G ESCA-CN 13 26788514 26788514 single base substitution G C missense_variant S502C 1505C>G ESCA-CN 13 26789376 26789376 single base substitution T G downstream_gene_variant ESCA-CN 13 26789376 26789376 single base substitution T G exon_variant ESCA-CN 13 26789376 26789376 single base substitution T G intron_variant ESCA-CN 13 26789376 26789376 single base substitution T G missense_variant T215P 643A>C KIRP-US 13 26788332 26788332 single base substitution T A downstream_gene_variant KIRP-US 13 26788332 26788332 single base substitution T A intron_variant KIRP-US 13 26788332 26788332 single base substitution T A missense_variant S207C 619A>T KIRP-US 13 26788332 26788332 single base substitution T A missense_variant S563C 1687A>T LGG-US 13 26788671 26788671 single base substitution G A downstream_gene_variant LGG-US 13 26788671 26788671 single base substitution G A intron_variant LGG-US 13 26788671 26788671 single base substitution G A missense_variant R450W 1348C>T LGG-US 13 26788671 26788671 single base substitution G A missense_variant R94W 280C>T LICA-FR 13 26724009 26724010 deletion of <=200bp TA - intron_variant LICA-FR 13 26756027 26756027 single base substitution T C intron_variant LICA-FR 13 26774543 26774546 deletion of <=200bp TTTT - intron_variant LICA-FR 13 26798456 26798456 single base substitution G T upstream_gene_variant LIHC-US 13 26788012 26788012 single base substitution A G downstream_gene_variant LIHC-US 13 26788012 26788012 single base substitution A G intron_variant LIHC-US 13 26788012 26788012 single base substitution A G synonymous_variant C313C 939T>C LIHC-US 13 26788012 26788012 single base substitution A G synonymous_variant C669C 2007T>C LIHC-US 13 26789149 26789149 single base substitution T A downstream_gene_variant LIHC-US 13 26789149 26789149 single base substitution T A intron_variant LIHC-US 13 26789149 26789149 single base substitution T A synonymous_variant T290T 870A>T LINC-JP 13 26704274 26704274 single base substitution G A downstream_gene_variant LINC-JP 13 26739721 26739721 single base substitution C T intron_variant LINC-JP 13 26741418 26741418 single base substitution G T intron_variant LINC-JP 13 26742183 26742183 single base substitution A G intron_variant LINC-JP 13 26754349 26754349 single base substitution G A intron_variant LINC-JP 13 26788508 26788508 single base substitution G T downstream_gene_variant LINC-JP 13 26788508 26788508 single base substitution G T intron_variant LINC-JP 13 26788508 26788508 single base substitution G T stop_gained S148* 443C>A LINC-JP 13 26788508 26788508 single base substitution G T stop_gained S504* 1511C>A LINC-JP 13 26789103 26789103 single base substitution T C downstream_gene_variant LINC-JP 13 26789103 26789103 single base substitution T C intron_variant LINC-JP 13 26789103 26789103 single base substitution T C missense_variant T306A 916A>G LINC-JP 13 26790013 26790013 single base substitution C A downstream_gene_variant LINC-JP 13 26790013 26790013 single base substitution C A intron_variant LIRI-JP 13 26703260 26703260 single base substitution T C downstream_gene_variant LIRI-JP 13 26704695 26704695 single base substitution G T downstream_gene_variant LIRI-JP 13 26704874 26704874 single base substitution A T downstream_gene_variant LIRI-JP 13 26705189 26705189 single base substitution T A downstream_gene_variant LIRI-JP 13 26705580 26705580 single base substitution A G downstream_gene_variant LIRI-JP 13 26705606 26705606 single base substitution G C downstream_gene_variant LIRI-JP 13 26706729 26706729 single base substitution C A intron_variant LIRI-JP 13 26707740 26707740 single base substitution C T intron_variant LIRI-JP 13 26710761 26710761 single base substitution T C intron_variant LIRI-JP 13 26710943 26710943 single base substitution T C intron_variant LIRI-JP 13 26711519 26711519 single base substitution G T intron_variant LIRI-JP 13 26713763 26713763 single base substitution A G intron_variant LIRI-JP 13 26716054 26716054 single base substitution G T intron_variant LIRI-JP 13 26716251 26716251 single base substitution C G intron_variant LIRI-JP 13 26716345 26716345 single base substitution T C intron_variant LIRI-JP 13 26716893 26716893 single base substitution A G intron_variant LIRI-JP 13 26717501 26717501 single base substitution T C intron_variant LIRI-JP 13 26718532 26718532 single base substitution A T intron_variant LIRI-JP 13 26722345 26722345 single base substitution T C intron_variant LIRI-JP 13 26722439 26722439 single base substitution A C intron_variant LIRI-JP 13 26723257 26723257 single base substitution C T intron_variant LIRI-JP 13 26733271 26733272 deletion of <=200bp AT - intron_variant LIRI-JP 13 26733720 26733720 single base substitution G A intron_variant LIRI-JP 13 26735296 26735296 single base substitution T C intron_variant LIRI-JP 13 26735977 26735978 deletion of <=200bp TG - intron_variant LIRI-JP 13 26737644 26737644 single base substitution C T intron_variant LIRI-JP 13 26738652 26738652 single base substitution T C intron_variant LIRI-JP 13 26739926 26739926 single base substitution A G intron_variant LIRI-JP 13 26741827 26741827 single base substitution C T intron_variant LIRI-JP 13 26741882 26741882 single base substitution A G intron_variant LIRI-JP 13 26742484 26742484 single base substitution C T intron_variant LIRI-JP 13 26744056 26744056 single base substitution T C intron_variant LIRI-JP 13 26744413 26744413 single base substitution C A intron_variant LIRI-JP 13 26745201 26745201 single base substitution T G intron_variant LIRI-JP 13 26747874 26747874 single base substitution G A intron_variant LIRI-JP 13 26749484 26749484 single base substitution C A intron_variant LIRI-JP 13 26749545 26749545 single base substitution C T intron_variant LIRI-JP 13 26750690 26750690 single base substitution T C intron_variant LIRI-JP 13 26750939 26750939 single base substitution C T intron_variant LIRI-JP 13 26750940 26750940 single base substitution A G intron_variant LIRI-JP 13 26750960 26750960 single base substitution A G intron_variant LIRI-JP 13 26754015 26754015 single base substitution A T intron_variant LIRI-JP 13 26757717 26757717 single base substitution A G intron_variant LIRI-JP 13 26757864 26757864 single base substitution G A intron_variant LIRI-JP 13 26759648 26759648 single base substitution C T intron_variant LIRI-JP 13 26760462 26760462 single base substitution A C intron_variant LIRI-JP 13 26761270 26761306 deletion of <=200bp CCCCGCTTCCTGTTTCTGCCATCAGTGGGGCCACAGG - intron_variant LIRI-JP 13 26763512 26763512 single base substitution A T intron_variant LIRI-JP 13 26764119 26764119 single base substitution A G intron_variant LIRI-JP 13 26765656 26765656 single base substitution T C intron_variant LIRI-JP 13 26771272 26771272 single base substitution C G intron_variant LIRI-JP 13 26772876 26772876 single base substitution A G intron_variant LIRI-JP 13 26774271 26774271 single base substitution T C intron_variant LIRI-JP 13 26775214 26775214 single base substitution T C intron_variant LIRI-JP 13 26776391 26776391 single base substitution G C intron_variant LIRI-JP 13 26776431 26776431 single base substitution A C intron_variant LIRI-JP 13 26777825 26777825 single base substitution G T intron_variant LIRI-JP 13 26779851 26779851 single base substitution T G intron_variant LIRI-JP 13 26782128 26782128 single base substitution G T downstream_gene_variant LIRI-JP 13 26782128 26782128 single base substitution G T intron_variant LIRI-JP 13 26783804 26783804 single base substitution C T downstream_gene_variant LIRI-JP 13 26783804 26783804 single base substitution C T intron_variant LIRI-JP 13 26784549 26784549 single base substitution G A downstream_gene_variant LIRI-JP 13 26784549 26784549 single base substitution G A intron_variant LIRI-JP 13 26786724 26786724 single base substitution T C downstream_gene_variant LIRI-JP 13 26786724 26786724 single base substitution T C intron_variant LIRI-JP 13 26787531 26787531 single base substitution C A 3_prime_UTR_variant LIRI-JP 13 26787531 26787531 single base substitution C A downstream_gene_variant LIRI-JP 13 26787531 26787531 single base substitution C A intron_variant LIRI-JP 13 26788014 26788014 single base substitution A G downstream_gene_variant LIRI-JP 13 26788014 26788014 single base substitution A G intron_variant LIRI-JP 13 26788014 26788014 single base substitution A G missense_variant C313R 937T>C LIRI-JP 13 26788014 26788014 single base substitution A G missense_variant C669R 2005T>C LIRI-JP 13 26788241 26788241 deletion of <=200bp A - downstream_gene_variant LIRI-JP 13 26788241 26788241 deletion of <=200bp A - frameshift_variant L237 LIRI-JP 13 26788241 26788241 deletion of <=200bp A - frameshift_variant L593 LIRI-JP 13 26788241 26788241 deletion of <=200bp A - intron_variant LIRI-JP 13 26788819 26788819 single base substitution G A downstream_gene_variant LIRI-JP 13 26788819 26788819 single base substitution G A intron_variant LIRI-JP 13 26788819 26788819 single base substitution G A synonymous_variant D400D 1200C>T LIRI-JP 13 26788819 26788819 single base substitution G A synonymous_variant D44D 132C>T LIRI-JP 13 26789857 26789857 single base substitution G T downstream_gene_variant LIRI-JP 13 26789857 26789857 single base substitution G T intron_variant LIRI-JP 13 26789881 26789881 single base substitution A G downstream_gene_variant LIRI-JP 13 26789881 26789881 single base substitution A G intron_variant LIRI-JP 13 26792906 26792906 single base substitution T C downstream_gene_variant LIRI-JP 13 26792906 26792906 single base substitution T C intron_variant LIRI-JP 13 26792931 26792931 single base substitution T C downstream_gene_variant LIRI-JP 13 26792931 26792931 single base substitution T C intron_variant LIRI-JP 13 26794118 26794118 single base substitution T C downstream_gene_variant LIRI-JP 13 26794118 26794118 single base substitution T C intron_variant LIRI-JP 13 26795595 26795595 deletion of <=200bp T - intron_variant LIRI-JP 13 26796868 26796868 single base substitution C A upstream_gene_variant LIRI-JP 13 26797750 26797750 single base substitution A C upstream_gene_variant LIRI-JP 13 26798828 26798828 single base substitution C T upstream_gene_variant LIRI-JP 13 26798859 26798859 single base substitution T C upstream_gene_variant LIRI-JP 13 26799277 26799277 single base substitution G A upstream_gene_variant LIRI-JP 13 26799610 26799610 single base substitution C T upstream_gene_variant LIRI-JP 13 26800616 26800616 single base substitution G A upstream_gene_variant LIRI-JP 13 26801713 26801713 single base substitution A G upstream_gene_variant LUSC-KR 13 26703041 26703041 single base substitution C A downstream_gene_variant LUSC-KR 13 26707655 26707655 single base substitution G C intron_variant LUSC-KR 13 26708798 26708798 single base substitution G C intron_variant LUSC-KR 13 26709287 26709287 single base substitution G C intron_variant LUSC-KR 13 26709627 26709627 single base substitution A G intron_variant LUSC-KR 13 26710855 26710855 single base substitution C A intron_variant LUSC-KR 13 26713154 26713154 single base substitution C A intron_variant LUSC-KR 13 26717374 26717374 single base substitution T C intron_variant LUSC-KR 13 26719833 26719833 single base substitution C G intron_variant LUSC-KR 13 26723623 26723623 single base substitution G T intron_variant LUSC-KR 13 26724996 26724996 single base substitution A G intron_variant LUSC-KR 13 26732203 26732203 single base substitution T C intron_variant LUSC-KR 13 26738623 26738623 single base substitution A G intron_variant LUSC-KR 13 26743169 26743169 single base substitution C A intron_variant LUSC-KR 13 26743373 26743373 single base substitution C A intron_variant LUSC-KR 13 26750173 26750173 single base substitution C A intron_variant LUSC-KR 13 26752182 26752182 single base substitution C G intron_variant LUSC-KR 13 26753842 26753842 single base substitution C A intron_variant LUSC-KR 13 26773907 26773907 single base substitution G C intron_variant LUSC-KR 13 26775833 26775833 single base substitution A G intron_variant LUSC-KR 13 26776430 26776430 single base substitution G A intron_variant LUSC-KR 13 26780106 26780106 single base substitution T C intron_variant LUSC-KR 13 26781345 26781345 single base substitution T C intron_variant LUSC-KR 13 26787085 26787085 single base substitution A G 3_prime_UTR_variant LUSC-KR 13 26787085 26787085 single base substitution A G downstream_gene_variant LUSC-KR 13 26787085 26787085 single base substitution A G intron_variant LUSC-KR 13 26790317 26790317 single base substitution G A downstream_gene_variant LUSC-KR 13 26790317 26790317 single base substitution G A intron_variant LUSC-KR 13 26794443 26794443 single base substitution A G downstream_gene_variant LUSC-KR 13 26794443 26794443 single base substitution A G intron_variant LUSC-KR 13 26795463 26795463 single base substitution C A 5_prime_UTR_variant LUSC-KR 13 26795463 26795463 single base substitution C A exon_variant LUSC-KR 13 26795510 26795510 single base substitution C A intron_variant LUSC-KR 13 26796112 26796112 single base substitution G T exon_variant LUSC-KR 13 26796112 26796112 single base substitution G T intron_variant LUSC-KR 13 26796112 26796112 single base substitution G T upstream_gene_variant LUSC-KR 13 26801499 26801499 single base substitution G T upstream_gene_variant LUSC-US 13 26788682 26788682 single base substitution G C downstream_gene_variant LUSC-US 13 26788682 26788682 single base substitution G C intron_variant LUSC-US 13 26788682 26788682 single base substitution G C missense_variant S446C 1337C>G LUSC-US 13 26788682 26788682 single base substitution G C missense_variant S90C 269C>G MALY-DE 13 26701561 26701561 single base substitution A T downstream_gene_variant MALY-DE 13 26706015 26706015 single base substitution G C downstream_gene_variant MALY-DE 13 26707922 26707922 single base substitution G T intron_variant MALY-DE 13 26708404 26708404 single base substitution C A intron_variant MALY-DE 13 26714933 26714933 single base substitution A C intron_variant MALY-DE 13 26719167 26719167 single base substitution A C intron_variant MALY-DE 13 26723060 26723060 single base substitution C T intron_variant MALY-DE 13 26724187 26724188 deletion of <=200bp TA - intron_variant MALY-DE 13 26729327 26729327 single base substitution A T intron_variant MALY-DE 13 26729496 26729496 deletion of <=200bp T - intron_variant MALY-DE 13 26730125 26730125 single base substitution G T intron_variant MALY-DE 13 26730536 26730536 single base substitution G A intron_variant MALY-DE 13 26736985 26736985 single base substitution C G intron_variant MALY-DE 13 26739772 26739772 single base substitution T C intron_variant MALY-DE 13 26742118 26742118 single base substitution T G intron_variant MALY-DE 13 26745758 26745758 single base substitution A C intron_variant MALY-DE 13 26745961 26745961 single base substitution C T intron_variant MALY-DE 13 26755870 26755870 single base substitution C T intron_variant MALY-DE 13 26764950 26764950 single base substitution T C intron_variant MALY-DE 13 26767227 26767227 single base substitution G A intron_variant MALY-DE 13 26767228 26767228 single base substitution C A intron_variant MALY-DE 13 26770725 26770725 single base substitution G A intron_variant MALY-DE 13 26790919 26790919 single base substitution G A downstream_gene_variant MALY-DE 13 26790919 26790919 single base substitution G A intron_variant MALY-DE 13 26795229 26795229 single base substitution T G downstream_gene_variant MALY-DE 13 26795229 26795229 single base substitution T G intron_variant MALY-DE 13 26797265 26797265 single base substitution A G upstream_gene_variant MELA-AU 13 26701283 26701283 single base substitution G A downstream_gene_variant MELA-AU 13 26701339 26701339 single base substitution C T downstream_gene_variant MELA-AU 13 26701784 26701784 single base substitution C T downstream_gene_variant MELA-AU 13 26701801 26701801 single base substitution C T downstream_gene_variant MELA-AU 13 26701897 26701897 single base substitution C T downstream_gene_variant MELA-AU 13 26702673 26702673 single base substitution C T downstream_gene_variant MELA-AU 13 26703971 26703971 single base substitution G A downstream_gene_variant MELA-AU 13 26704080 26704080 single base substitution G A downstream_gene_variant MELA-AU 13 26704182 26704182 single base substitution G A downstream_gene_variant MELA-AU 13 26704189 26704189 single base substitution G A downstream_gene_variant MELA-AU 13 26704250 26704250 single base substitution C T downstream_gene_variant MELA-AU 13 26704650 26704650 single base substitution C T downstream_gene_variant MELA-AU 13 26704666 26704666 single base substitution C T downstream_gene_variant MELA-AU 13 26704921 26704921 single base substitution C T downstream_gene_variant MELA-AU 13 26704958 26704958 single base substitution G A downstream_gene_variant MELA-AU 13 26704983 26704983 single base substitution C T downstream_gene_variant MELA-AU 13 26705089 26705089 single base substitution G A downstream_gene_variant MELA-AU 13 26705484 26705484 single base substitution C T downstream_gene_variant MELA-AU 13 26705553 26705553 single base substitution C T downstream_gene_variant MELA-AU 13 26705830 26705830 single base substitution G A downstream_gene_variant MELA-AU 13 26705853 26705853 single base substitution G A downstream_gene_variant MELA-AU 13 26706092 26706092 single base substitution C T downstream_gene_variant MELA-AU 13 26706427 26706427 single base substitution G A exon_variant MELA-AU 13 26706614 26706614 single base substitution A T intron_variant MELA-AU 13 26706969 26706969 single base substitution A G intron_variant MELA-AU 13 26707454 26707454 single base substitution G A intron_variant MELA-AU 13 26707662 26707662 single base substitution C T intron_variant MELA-AU 13 26707728 26707728 single base substitution C T intron_variant MELA-AU 13 26707758 26707758 single base substitution G T intron_variant MELA-AU 13 26707847 26707847 single base substitution C T intron_variant MELA-AU 13 26707926 26707926 single base substitution G A intron_variant MELA-AU 13 26707952 26707952 single base substitution C T intron_variant MELA-AU 13 26708149 26708149 single base substitution G A intron_variant MELA-AU 13 26708164 26708164 single base substitution G A intron_variant MELA-AU 13 26708328 26708328 single base substitution C T intron_variant MELA-AU 13 26708343 26708343 single base substitution C T intron_variant MELA-AU 13 26708598 26708598 single base substitution G A intron_variant MELA-AU 13 26708725 26708725 single base substitution G A intron_variant MELA-AU 13 26708953 26708953 single base substitution T C intron_variant MELA-AU 13 26709182 26709182 single base substitution G A intron_variant MELA-AU 13 26709215 26709215 single base substitution C T intron_variant MELA-AU 13 26709263 26709263 single base substitution C T intron_variant MELA-AU 13 26709513 26709513 single base substitution A T intron_variant MELA-AU 13 26709554 26709554 single base substitution C T intron_variant MELA-AU 13 26709951 26709951 single base substitution G A intron_variant MELA-AU 13 26709978 26709978 single base substitution C T intron_variant MELA-AU 13 26710134 26710134 single base substitution C T intron_variant MELA-AU 13 26710149 26710149 single base substitution G A intron_variant MELA-AU 13 26710194 26710194 single base substitution C T intron_variant MELA-AU 13 26710352 26710352 single base substitution A G intron_variant MELA-AU 13 26710858 26710858 single base substitution A C intron_variant MELA-AU 13 26710941 26710941 single base substitution C T intron_variant MELA-AU 13 26710946 26710946 single base substitution C T intron_variant MELA-AU 13 26711016 26711016 single base substitution G A intron_variant MELA-AU 13 26711042 26711042 single base substitution G A intron_variant MELA-AU 13 26711123 26711123 single base substitution C T intron_variant MELA-AU 13 26711214 26711214 single base substitution T A intron_variant MELA-AU 13 26711305 26711305 single base substitution G A intron_variant MELA-AU 13 26711330 26711330 single base substitution C T intron_variant MELA-AU 13 26711378 26711378 single base substitution A C intron_variant MELA-AU 13 26711499 26711499 single base substitution G A intron_variant MELA-AU 13 26711683 26711683 single base substitution C T intron_variant MELA-AU 13 26711855 26711855 single base substitution C T intron_variant MELA-AU 13 26711857 26711857 single base substitution C T intron_variant MELA-AU 13 26711943 26711943 single base substitution G A intron_variant MELA-AU 13 26712046 26712046 single base substitution G A intron_variant MELA-AU 13 26712082 26712082 single base substitution A T intron_variant MELA-AU 13 26712142 26712142 single base substitution C A intron_variant MELA-AU 13 26712356 26712356 single base substitution G A intron_variant MELA-AU 13 26712385 26712385 single base substitution C T intron_variant MELA-AU 13 26712588 26712588 single base substitution G A intron_variant MELA-AU 13 26712634 26712634 single base substitution C T intron_variant MELA-AU 13 26712686 26712686 single base substitution T C intron_variant MELA-AU 13 26712747 26712747 single base substitution G A intron_variant MELA-AU 13 26712790 26712790 single base substitution T A intron_variant MELA-AU 13 26712966 26712966 single base substitution G A intron_variant MELA-AU 13 26713187 26713187 single base substitution C T intron_variant MELA-AU 13 26713231 26713231 single base substitution C T intron_variant MELA-AU 13 26713263 26713263 single base substitution G A intron_variant MELA-AU 13 26713349 26713349 single base substitution C T intron_variant MELA-AU 13 26713517 26713517 single base substitution T A intron_variant MELA-AU 13 26713931 26713931 single base substitution C T intron_variant MELA-AU 13 26713985 26713985 single base substitution C T intron_variant MELA-AU 13 26714234 26714234 single base substitution T G intron_variant MELA-AU 13 26714253 26714253 single base substitution G A intron_variant MELA-AU 13 26714286 26714286 single base substitution T C intron_variant MELA-AU 13 26714358 26714358 single base substitution C T intron_variant MELA-AU 13 26714399 26714399 single base substitution G A intron_variant MELA-AU 13 26714531 26714531 single base substitution G A intron_variant MELA-AU 13 26714594 26714594 single base substitution G A intron_variant MELA-AU 13 26714701 26714701 single base substitution G A intron_variant MELA-AU 13 26714908 26714908 single base substitution G A intron_variant MELA-AU 13 26715248 26715248 single base substitution G A intron_variant MELA-AU 13 26715314 26715314 single base substitution C T intron_variant MELA-AU 13 26715683 26715683 single base substitution G A intron_variant MELA-AU 13 26715721 26715721 single base substitution G A intron_variant MELA-AU 13 26715834 26715835 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 13 26715844 26715844 single base substitution C T intron_variant MELA-AU 13 26715892 26715892 single base substitution G A intron_variant MELA-AU 13 26716002 26716002 single base substitution G A intron_variant MELA-AU 13 26716508 26716508 single base substitution C T intron_variant MELA-AU 13 26716518 26716518 single base substitution C T intron_variant MELA-AU 13 26716849 26716849 single base substitution G A intron_variant MELA-AU 13 26716865 26716865 single base substitution G A intron_variant MELA-AU 13 26716916 26716916 single base substitution C A intron_variant MELA-AU 13 26717365 26717365 single base substitution C T intron_variant MELA-AU 13 26717382 26717382 single base substitution C T intron_variant MELA-AU 13 26717399 26717399 single base substitution G A intron_variant MELA-AU 13 26717452 26717452 single base substitution A G intron_variant MELA-AU 13 26717537 26717537 single base substitution C T intron_variant MELA-AU 13 26717676 26717676 single base substitution G A intron_variant MELA-AU 13 26717738 26717738 single base substitution G A intron_variant MELA-AU 13 26717940 26717940 single base substitution G A intron_variant MELA-AU 13 26718006 26718006 single base substitution C T intron_variant MELA-AU 13 26718416 26718416 single base substitution G A intron_variant MELA-AU 13 26718575 26718575 single base substitution C T intron_variant MELA-AU 13 26718591 26718591 single base substitution C T intron_variant MELA-AU 13 26718736 26718736 single base substitution G A intron_variant MELA-AU 13 26718766 26718766 single base substitution G A intron_variant MELA-AU 13 26718858 26718858 single base substitution C T intron_variant MELA-AU 13 26718957 26718957 single base substitution C T intron_variant MELA-AU 13 26719510 26719510 single base substitution C T intron_variant MELA-AU 13 26719553 26719553 single base substitution G A intron_variant MELA-AU 13 26719585 26719585 single base substitution G A intron_variant MELA-AU 13 26719691 26719691 single base substitution C T intron_variant MELA-AU 13 26719723 26719723 single base substitution C T intron_variant MELA-AU 13 26719753 26719753 single base substitution C T intron_variant MELA-AU 13 26719857 26719857 single base substitution C T intron_variant MELA-AU 13 26719879 26719879 single base substitution G A intron_variant MELA-AU 13 26720064 26720064 single base substitution G A intron_variant MELA-AU 13 26720130 26720130 single base substitution C T intron_variant MELA-AU 13 26720317 26720317 single base substitution G A intron_variant MELA-AU 13 26720354 26720354 single base substitution C T intron_variant MELA-AU 13 26720416 26720416 single base substitution G A intron_variant MELA-AU 13 26720428 26720428 single base substitution T C intron_variant MELA-AU 13 26720510 26720510 single base substitution C T intron_variant MELA-AU 13 26720522 26720522 single base substitution G A intron_variant MELA-AU 13 26720609 26720609 single base substitution C T intron_variant MELA-AU 13 26720672 26720672 single base substitution G A intron_variant MELA-AU 13 26720687 26720687 single base substitution C T intron_variant MELA-AU 13 26721045 26721045 single base substitution G A intron_variant MELA-AU 13 26721098 26721098 single base substitution C T intron_variant MELA-AU 13 26721177 26721177 single base substitution C T intron_variant MELA-AU 13 26721209 26721209 single base substitution G A intron_variant MELA-AU 13 26721395 26721395 single base substitution C T intron_variant MELA-AU 13 26721408 26721408 single base substitution G A intron_variant MELA-AU 13 26721529 26721529 single base substitution C T intron_variant MELA-AU 13 26721621 26721621 single base substitution G C intron_variant MELA-AU 13 26721675 26721675 single base substitution G A intron_variant MELA-AU 13 26721776 26721776 single base substitution G A intron_variant MELA-AU 13 26721810 26721810 single base substitution A C intron_variant MELA-AU 13 26721835 26721835 single base substitution G A intron_variant MELA-AU 13 26721983 26721983 single base substitution G A intron_variant MELA-AU 13 26721984 26721984 single base substitution G A intron_variant MELA-AU 13 26722304 26722304 single base substitution C T intron_variant MELA-AU 13 26722329 26722329 single base substitution C T intron_variant MELA-AU 13 26722377 26722377 single base substitution C T intron_variant MELA-AU 13 26722510 26722510 single base substitution G A intron_variant MELA-AU 13 26722594 26722594 single base substitution G A intron_variant MELA-AU 13 26722659 26722659 single base substitution C T intron_variant MELA-AU 13 26723466 26723466 single base substitution C T intron_variant MELA-AU 13 26723508 26723508 single base substitution G A intron_variant MELA-AU 13 26723720 26723720 single base substitution G A intron_variant MELA-AU 13 26723806 26723806 single base substitution C T intron_variant MELA-AU 13 26723855 26723855 single base substitution G A intron_variant MELA-AU 13 26724411 26724411 single base substitution G A intron_variant MELA-AU 13 26724626 26724626 single base substitution G A intron_variant MELA-AU 13 26724631 26724631 single base substitution G A intron_variant MELA-AU 13 26724840 26724840 single base substitution G A intron_variant MELA-AU 13 26725431 26725431 single base substitution C T intron_variant MELA-AU 13 26725535 26725535 single base substitution G A intron_variant MELA-AU 13 26725627 26725627 single base substitution C T intron_variant MELA-AU 13 26725687 26725687 single base substitution C T intron_variant MELA-AU 13 26725951 26725951 single base substitution G A intron_variant MELA-AU 13 26726371 26726371 single base substitution G A intron_variant MELA-AU 13 26726386 26726386 single base substitution G A intron_variant MELA-AU 13 26726507 26726507 single base substitution C T intron_variant MELA-AU 13 26726670 26726670 single base substitution C T intron_variant MELA-AU 13 26726776 26726776 single base substitution C T intron_variant MELA-AU 13 26726778 26726778 single base substitution C T intron_variant MELA-AU 13 26726825 26726825 single base substitution C T intron_variant MELA-AU 13 26727051 26727051 single base substitution G A intron_variant MELA-AU 13 26727068 26727068 single base substitution G A intron_variant MELA-AU 13 26727250 26727250 single base substitution C T intron_variant MELA-AU 13 26727637 26727637 single base substitution C A intron_variant MELA-AU 13 26727791 26727791 single base substitution G A intron_variant MELA-AU 13 26727810 26727810 single base substitution A T intron_variant MELA-AU 13 26727861 26727861 single base substitution G A intron_variant MELA-AU 13 26728067 26728067 single base substitution G A intron_variant MELA-AU 13 26728145 26728145 single base substitution G A intron_variant MELA-AU 13 26728282 26728282 single base substitution G A intron_variant MELA-AU 13 26728523 26728523 single base substitution C T intron_variant MELA-AU 13 26728734 26728734 single base substitution C T intron_variant MELA-AU 13 26729638 26729638 single base substitution G A intron_variant MELA-AU 13 26729699 26729699 single base substitution G A intron_variant MELA-AU 13 26729728 26729728 single base substitution C T intron_variant MELA-AU 13 26730221 26730221 single base substitution G A intron_variant MELA-AU 13 26730597 26730597 single base substitution G A intron_variant MELA-AU 13 26730976 26730976 single base substitution C T intron_variant MELA-AU 13 26731030 26731030 single base substitution G A intron_variant MELA-AU 13 26731217 26731217 single base substitution G A intron_variant MELA-AU 13 26731374 26731374 single base substitution C T intron_variant MELA-AU 13 26731691 26731691 single base substitution G A intron_variant MELA-AU 13 26731800 26731800 single base substitution C T intron_variant MELA-AU 13 26732064 26732064 single base substitution A G intron_variant MELA-AU 13 26732355 26732355 single base substitution C T intron_variant MELA-AU 13 26732374 26732374 single base substitution C T intron_variant MELA-AU 13 26732552 26732552 single base substitution G A intron_variant MELA-AU 13 26732639 26732639 single base substitution A C intron_variant MELA-AU 13 26732758 26732758 single base substitution G A intron_variant MELA-AU 13 26733145 26733145 single base substitution G A intron_variant MELA-AU 13 26733402 26733402 single base substitution T A intron_variant MELA-AU 13 26733434 26733434 single base substitution G A intron_variant MELA-AU 13 26734084 26734084 single base substitution C T intron_variant MELA-AU 13 26735036 26735036 single base substitution C T intron_variant MELA-AU 13 26735158 26735158 single base substitution T C intron_variant MELA-AU 13 26735169 26735169 single base substitution A G intron_variant MELA-AU 13 26735316 26735316 single base substitution G A intron_variant MELA-AU 13 26735404 26735404 single base substitution C T intron_variant MELA-AU 13 26735684 26735684 single base substitution C T intron_variant MELA-AU 13 26735966 26735966 single base substitution G A intron_variant MELA-AU 13 26736340 26736340 single base substitution G A intron_variant MELA-AU 13 26736353 26736353 single base substitution C T intron_variant MELA-AU 13 26736392 26736392 single base substitution C T intron_variant MELA-AU 13 26736479 26736479 single base substitution C T intron_variant MELA-AU 13 26736550 26736550 single base substitution C T intron_variant MELA-AU 13 26736627 26736627 single base substitution C T intron_variant MELA-AU 13 26736740 26736740 single base substitution C T intron_variant MELA-AU 13 26736947 26736947 single base substitution G A intron_variant MELA-AU 13 26737247 26737247 single base substitution A T intron_variant MELA-AU 13 26737343 26737343 single base substitution G A intron_variant MELA-AU 13 26737403 26737403 single base substitution C T intron_variant MELA-AU 13 26737487 26737487 single base substitution C T intron_variant MELA-AU 13 26737705 26737705 single base substitution G A intron_variant MELA-AU 13 26737711 26737711 single base substitution G A intron_variant MELA-AU 13 26737834 26737834 single base substitution C T intron_variant MELA-AU 13 26737955 26737955 single base substitution G A intron_variant MELA-AU 13 26737961 26737961 single base substitution G A intron_variant MELA-AU 13 26737994 26737994 single base substitution C T intron_variant MELA-AU 13 26738088 26738088 single base substitution T C intron_variant MELA-AU 13 26738185 26738185 single base substitution G A intron_variant MELA-AU 13 26738523 26738523 single base substitution G A intron_variant MELA-AU 13 26738562 26738562 single base substitution C T intron_variant MELA-AU 13 26738822 26738822 single base substitution C T intron_variant MELA-AU 13 26738856 26738856 single base substitution C T intron_variant MELA-AU 13 26738878 26738878 single base substitution G A intron_variant MELA-AU 13 26739012 26739012 single base substitution A T intron_variant MELA-AU 13 26739068 26739068 single base substitution C T intron_variant MELA-AU 13 26739118 26739118 single base substitution C T intron_variant MELA-AU 13 26739190 26739190 single base substitution G A intron_variant MELA-AU 13 26739203 26739203 single base substitution G A intron_variant MELA-AU 13 26739801 26739801 single base substitution G A intron_variant MELA-AU 13 26739802 26739802 single base substitution G A intron_variant MELA-AU 13 26739840 26739840 single base substitution G A intron_variant MELA-AU 13 26739859 26739859 single base substitution G A intron_variant MELA-AU 13 26739899 26739899 single base substitution G A intron_variant MELA-AU 13 26739976 26739976 single base substitution C T intron_variant MELA-AU 13 26740063 26740063 single base substitution G A intron_variant MELA-AU 13 26740130 26740130 single base substitution G A intron_variant MELA-AU 13 26740300 26740300 single base substitution C T intron_variant MELA-AU 13 26740591 26740591 single base substitution C T intron_variant MELA-AU 13 26740817 26740817 single base substitution G A intron_variant MELA-AU 13 26741133 26741133 single base substitution C T intron_variant MELA-AU 13 26741379 26741379 single base substitution G A intron_variant MELA-AU 13 26741716 26741716 single base substitution G A intron_variant MELA-AU 13 26741826 26741826 single base substitution C T intron_variant MELA-AU 13 26741953 26741953 single base substitution G A intron_variant MELA-AU 13 26742284 26742284 single base substitution G A intron_variant MELA-AU 13 26742345 26742345 single base substitution G A intron_variant MELA-AU 13 26742351 26742351 single base substitution G A intron_variant MELA-AU 13 26742537 26742537 single base substitution C T intron_variant MELA-AU 13 26742769 26742769 single base substitution C T intron_variant MELA-AU 13 26742843 26742843 single base substitution G A intron_variant MELA-AU 13 26742909 26742909 single base substitution G A intron_variant MELA-AU 13 26743311 26743311 single base substitution A C intron_variant MELA-AU 13 26743336 26743336 single base substitution C T intron_variant MELA-AU 13 26743705 26743705 single base substitution C T intron_variant MELA-AU 13 26743730 26743730 single base substitution C T intron_variant MELA-AU 13 26744199 26744199 single base substitution G A intron_variant MELA-AU 13 26744206 26744206 single base substitution G A intron_variant MELA-AU 13 26744448 26744448 single base substitution C T intron_variant MELA-AU 13 26744518 26744518 single base substitution C T intron_variant MELA-AU 13 26744562 26744562 single base substitution G A intron_variant MELA-AU 13 26744858 26744858 single base substitution G A intron_variant MELA-AU 13 26745118 26745118 single base substitution C T intron_variant MELA-AU 13 26745121 26745121 single base substitution C T intron_variant MELA-AU 13 26745124 26745124 single base substitution G A intron_variant MELA-AU 13 26745267 26745267 single base substitution G A intron_variant MELA-AU 13 26745358 26745358 single base substitution G A intron_variant MELA-AU 13 26745361 26745361 single base substitution G A intron_variant MELA-AU 13 26745656 26745656 single base substitution C T intron_variant MELA-AU 13 26745805 26745805 single base substitution G A intron_variant MELA-AU 13 26745809 26745809 single base substitution G A intron_variant MELA-AU 13 26745971 26745971 single base substitution G A intron_variant MELA-AU 13 26746090 26746090 single base substitution G A intron_variant MELA-AU 13 26746915 26746915 single base substitution C T intron_variant MELA-AU 13 26746974 26746974 single base substitution C T intron_variant MELA-AU 13 26747060 26747060 single base substitution C T intron_variant MELA-AU 13 26747393 26747393 single base substitution G A intron_variant MELA-AU 13 26747643 26747643 single base substitution G A intron_variant MELA-AU 13 26747669 26747669 single base substitution G A intron_variant MELA-AU 13 26748493 26748493 single base substitution G A intron_variant MELA-AU 13 26748626 26748626 single base substitution A G intron_variant MELA-AU 13 26749141 26749141 single base substitution G C intron_variant MELA-AU 13 26749459 26749459 single base substitution C G intron_variant MELA-AU 13 26749810 26749810 single base substitution G A intron_variant MELA-AU 13 26749812 26749812 single base substitution A T intron_variant MELA-AU 13 26749942 26749942 single base substitution C T intron_variant MELA-AU 13 26750010 26750010 single base substitution G A intron_variant MELA-AU 13 26750275 26750275 single base substitution G A intron_variant MELA-AU 13 26750543 26750543 single base substitution C T intron_variant MELA-AU 13 26750561 26750561 single base substitution G A intron_variant MELA-AU 13 26750693 26750693 single base substitution G A intron_variant MELA-AU 13 26751058 26751058 single base substitution G A intron_variant MELA-AU 13 26751276 26751276 single base substitution C T intron_variant MELA-AU 13 26751424 26751424 single base substitution C T intron_variant MELA-AU 13 26751695 26751695 single base substitution G A intron_variant MELA-AU 13 26751750 26751750 single base substitution C T intron_variant MELA-AU 13 26751960 26751960 single base substitution C T intron_variant MELA-AU 13 26752009 26752009 single base substitution G A intron_variant MELA-AU 13 26752269 26752269 single base substitution T G intron_variant MELA-AU 13 26752545 26752545 single base substitution C T intron_variant MELA-AU 13 26752656 26752656 single base substitution G A intron_variant MELA-AU 13 26752790 26752790 single base substitution T A intron_variant MELA-AU 13 26753077 26753077 single base substitution C T intron_variant MELA-AU 13 26753425 26753425 single base substitution G A intron_variant MELA-AU 13 26753657 26753657 single base substitution G A intron_variant MELA-AU 13 26753937 26753937 single base substitution G A intron_variant MELA-AU 13 26754444 26754444 single base substitution C T intron_variant MELA-AU 13 26754683 26754683 single base substitution A G intron_variant MELA-AU 13 26755056 26755056 single base substitution A G intron_variant MELA-AU 13 26755336 26755336 single base substitution G A intron_variant MELA-AU 13 26755561 26755561 single base substitution C T intron_variant MELA-AU 13 26755695 26755695 single base substitution G A intron_variant MELA-AU 13 26755700 26755700 single base substitution A G intron_variant MELA-AU 13 26755822 26755822 single base substitution G A intron_variant MELA-AU 13 26756093 26756093 single base substitution G A intron_variant MELA-AU 13 26756377 26756377 single base substitution G A intron_variant MELA-AU 13 26756742 26756742 single base substitution G A intron_variant MELA-AU 13 26756953 26756953 single base substitution G A intron_variant MELA-AU 13 26757033 26757033 single base substitution G A intron_variant MELA-AU 13 26757769 26757769 single base substitution G A intron_variant MELA-AU 13 26758212 26758212 single base substitution G A intron_variant MELA-AU 13 26758360 26758360 single base substitution G A intron_variant MELA-AU 13 26758398 26758398 single base substitution G A intron_variant MELA-AU 13 26758410 26758410 single base substitution C T intron_variant MELA-AU 13 26758492 26758492 single base substitution C T intron_variant MELA-AU 13 26758845 26758845 single base substitution G A intron_variant MELA-AU 13 26759033 26759033 single base substitution G A intron_variant MELA-AU 13 26759128 26759128 single base substitution G T intron_variant MELA-AU 13 26759225 26759225 single base substitution C T intron_variant MELA-AU 13 26759509 26759509 single base substitution A G intron_variant MELA-AU 13 26760483 26760483 single base substitution G A intron_variant MELA-AU 13 26762984 26762984 single base substitution C T intron_variant MELA-AU 13 26764403 26764403 single base substitution C T intron_variant MELA-AU 13 26764767 26764767 single base substitution C T intron_variant MELA-AU 13 26766811 26766811 single base substitution G A intron_variant MELA-AU 13 26767533 26767533 single base substitution G A intron_variant MELA-AU 13 26767899 26767899 single base substitution C T intron_variant MELA-AU 13 26768115 26768115 single base substitution G A intron_variant MELA-AU 13 26768419 26768419 single base substitution G A intron_variant MELA-AU 13 26768978 26768978 single base substitution C T intron_variant MELA-AU 13 26769405 26769405 single base substitution G A intron_variant MELA-AU 13 26769684 26769684 single base substitution G A intron_variant MELA-AU 13 26770138 26770138 single base substitution G A intron_variant MELA-AU 13 26770313 26770313 single base substitution A T intron_variant MELA-AU 13 26771315 26771315 single base substitution G A intron_variant MELA-AU 13 26771776 26771776 single base substitution G A intron_variant MELA-AU 13 26771917 26771917 single base substitution C A intron_variant MELA-AU 13 26772048 26772048 single base substitution G A intron_variant MELA-AU 13 26772783 26772783 single base substitution G A intron_variant MELA-AU 13 26773289 26773289 single base substitution G A intron_variant MELA-AU 13 26773579 26773579 single base substitution G A intron_variant MELA-AU 13 26774080 26774080 single base substitution C G intron_variant MELA-AU 13 26774720 26774720 single base substitution T A intron_variant MELA-AU 13 26774780 26774780 single base substitution G A intron_variant MELA-AU 13 26775141 26775141 single base substitution G A intron_variant MELA-AU 13 26778099 26778099 single base substitution A T intron_variant MELA-AU 13 26778702 26778702 single base substitution G A intron_variant MELA-AU 13 26781031 26781031 single base substitution C T intron_variant MELA-AU 13 26781246 26781246 single base substitution G A intron_variant MELA-AU 13 26781705 26781705 single base substitution G A intron_variant MELA-AU 13 26782426 26782426 single base substitution G A downstream_gene_variant MELA-AU 13 26782426 26782426 single base substitution G A intron_variant MELA-AU 13 26783598 26783598 single base substitution G A downstream_gene_variant MELA-AU 13 26783598 26783598 single base substitution G A intron_variant MELA-AU 13 26783622 26783622 single base substitution C T downstream_gene_variant MELA-AU 13 26783622 26783622 single base substitution C T intron_variant MELA-AU 13 26783673 26783673 single base substitution G A downstream_gene_variant MELA-AU 13 26783673 26783673 single base substitution G A intron_variant MELA-AU 13 26784195 26784195 single base substitution A T downstream_gene_variant MELA-AU 13 26784195 26784195 single base substitution A T intron_variant MELA-AU 13 26784218 26784218 single base substitution A T downstream_gene_variant MELA-AU 13 26784218 26784218 single base substitution A T intron_variant MELA-AU 13 26784494 26784494 single base substitution C T downstream_gene_variant MELA-AU 13 26784494 26784494 single base substitution C T intron_variant MELA-AU 13 26786047 26786047 single base substitution C T downstream_gene_variant MELA-AU 13 26786047 26786047 single base substitution C T intron_variant MELA-AU 13 26786142 26786142 single base substitution C T downstream_gene_variant MELA-AU 13 26786142 26786142 single base substitution C T intron_variant MELA-AU 13 26786434 26786434 single base substitution C T downstream_gene_variant MELA-AU 13 26786434 26786434 single base substitution C T intron_variant MELA-AU 13 26787128 26787128 single base substitution A T 3_prime_UTR_variant MELA-AU 13 26787128 26787128 single base substitution A T downstream_gene_variant MELA-AU 13 26787128 26787128 single base substitution A T intron_variant MELA-AU 13 26788300 26788300 single base substitution A G downstream_gene_variant MELA-AU 13 26788300 26788300 single base substitution A G intron_variant MELA-AU 13 26788300 26788300 single base substitution A G synonymous_variant N217N 651T>C MELA-AU 13 26788300 26788300 single base substitution A G synonymous_variant N573N 1719T>C MELA-AU 13 26789042 26789042 single base substitution G A downstream_gene_variant MELA-AU 13 26789042 26789042 single base substitution G A intron_variant MELA-AU 13 26789042 26789042 single base substitution G A missense_variant S326F 977C>T MELA-AU 13 26789073 26789073 single base substitution G A downstream_gene_variant MELA-AU 13 26789073 26789073 single base substitution G A intron_variant MELA-AU 13 26789073 26789073 single base substitution G A stop_gained Q316* 946C>T MELA-AU 13 26789205 26789205 single base substitution C T downstream_gene_variant MELA-AU 13 26789205 26789205 single base substitution C T intron_variant MELA-AU 13 26789205 26789205 single base substitution C T missense_variant G272R 814G>A MELA-AU 13 26789321 26789321 single base substitution C G downstream_gene_variant MELA-AU 13 26789321 26789321 single base substitution C G exon_variant MELA-AU 13 26789321 26789321 single base substitution C G intron_variant MELA-AU 13 26789321 26789321 single base substitution C G missense_variant G233A 698G>C MELA-AU 13 26789904 26789904 single base substitution C T downstream_gene_variant MELA-AU 13 26789904 26789904 single base substitution C T intron_variant MELA-AU 13 26790259 26790259 single base substitution G A downstream_gene_variant MELA-AU 13 26790259 26790259 single base substitution G A intron_variant MELA-AU 13 26790305 26790305 single base substitution C A downstream_gene_variant MELA-AU 13 26790305 26790305 single base substitution C A intron_variant MELA-AU 13 26790401 26790401 single base substitution G A downstream_gene_variant MELA-AU 13 26790401 26790401 single base substitution G A intron_variant MELA-AU 13 26790599 26790599 single base substitution G A downstream_gene_variant MELA-AU 13 26790599 26790599 single base substitution G A intron_variant MELA-AU 13 26790735 26790735 single base substitution T A downstream_gene_variant MELA-AU 13 26790735 26790735 single base substitution T A intron_variant MELA-AU 13 26791643 26791643 single base substitution G A downstream_gene_variant MELA-AU 13 26791643 26791643 single base substitution G A intron_variant MELA-AU 13 26792077 26792077 single base substitution A G downstream_gene_variant MELA-AU 13 26792077 26792077 single base substitution A G intron_variant MELA-AU 13 26793048 26793048 deletion of <=200bp A - downstream_gene_variant MELA-AU 13 26793048 26793048 deletion of <=200bp A - intron_variant MELA-AU 13 26794845 26794845 single base substitution C G downstream_gene_variant MELA-AU 13 26794845 26794845 single base substitution C G intron_variant MELA-AU 13 26794981 26794981 single base substitution A G downstream_gene_variant MELA-AU 13 26794981 26794981 single base substitution A G intron_variant MELA-AU 13 26795829 26795829 single base substitution G A 5_prime_UTR_variant MELA-AU 13 26795829 26795829 single base substitution G A intron_variant MELA-AU 13 26795829 26795829 single base substitution G A upstream_gene_variant MELA-AU 13 26796073 26796073 single base substitution G A exon_variant MELA-AU 13 26796073 26796073 single base substitution G A intron_variant MELA-AU 13 26796073 26796073 single base substitution G A upstream_gene_variant MELA-AU 13 26796464 26796464 single base substitution C T 5_prime_UTR_variant MELA-AU 13 26796464 26796464 single base substitution C T upstream_gene_variant MELA-AU 13 26797109 26797110 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 13 26797724 26797724 single base substitution C T upstream_gene_variant MELA-AU 13 26797870 26797870 single base substitution C T upstream_gene_variant MELA-AU 13 26797989 26797989 single base substitution C T upstream_gene_variant MELA-AU 13 26798267 26798267 single base substitution C T upstream_gene_variant MELA-AU 13 26798479 26798479 single base substitution G A upstream_gene_variant MELA-AU 13 26798814 26798814 single base substitution G A upstream_gene_variant MELA-AU 13 26799217 26799217 single base substitution C T upstream_gene_variant MELA-AU 13 26799607 26799607 single base substitution T C upstream_gene_variant MELA-AU 13 26799734 26799734 single base substitution C T upstream_gene_variant MELA-AU 13 26799883 26799883 single base substitution G A upstream_gene_variant MELA-AU 13 26799890 26799890 single base substitution C T upstream_gene_variant MELA-AU 13 26799968 26799969 multiple base substitution (>=2bp and <=200bp) GG AT upstream_gene_variant MELA-AU 13 26800047 26800047 single base substitution G A upstream_gene_variant MELA-AU 13 26800111 26800111 single base substitution G A upstream_gene_variant MELA-AU 13 26800125 26800125 single base substitution C T upstream_gene_variant MELA-AU 13 26800537 26800537 single base substitution C T upstream_gene_variant MELA-AU 13 26800611 26800611 single base substitution G A upstream_gene_variant MELA-AU 13 26800632 26800632 single base substitution C T upstream_gene_variant MELA-AU 13 26800713 26800713 single base substitution A T upstream_gene_variant MELA-AU 13 26800740 26800740 single base substitution G A upstream_gene_variant MELA-AU 13 26800799 26800799 single base substitution C T upstream_gene_variant MELA-AU 13 26801075 26801075 single base substitution G A upstream_gene_variant MELA-AU 13 26801633 26801633 single base substitution C T upstream_gene_variant MELA-AU 13 26801770 26801770 single base substitution C T upstream_gene_variant ORCA-IN 13 26702673 26702673 single base substitution C G downstream_gene_variant ORCA-IN 13 26702735 26702735 single base substitution C G downstream_gene_variant ORCA-IN 13 26710002 26710002 single base substitution G T intron_variant ORCA-IN 13 26712004 26712004 single base substitution C G intron_variant ORCA-IN 13 26728155 26728155 single base substitution C T intron_variant ORCA-IN 13 26742529 26742529 single base substitution T G intron_variant ORCA-IN 13 26754809 26754809 single base substitution C T intron_variant ORCA-IN 13 26799079 26799079 single base substitution C T upstream_gene_variant OV-AU 13 26703092 26703092 single base substitution C T downstream_gene_variant OV-AU 13 26704303 26704303 single base substitution A T downstream_gene_variant OV-AU 13 26708021 26708021 single base substitution G A intron_variant OV-AU 13 26709367 26709367 single base substitution G C intron_variant OV-AU 13 26713489 26713489 single base substitution A G intron_variant OV-AU 13 26713788 26713788 single base substitution T C intron_variant OV-AU 13 26713810 26713810 single base substitution C A intron_variant OV-AU 13 26716018 26716018 single base substitution C G intron_variant OV-AU 13 26716836 26716836 single base substitution C T intron_variant OV-AU 13 26720096 26720096 single base substitution T A intron_variant OV-AU 13 26720736 26720736 single base substitution C A intron_variant OV-AU 13 26720916 26720916 single base substitution G T intron_variant OV-AU 13 26724941 26724941 single base substitution C T intron_variant OV-AU 13 26726464 26726464 single base substitution G A intron_variant OV-AU 13 26727996 26727996 single base substitution T C intron_variant OV-AU 13 26740223 26740223 single base substitution G C intron_variant OV-AU 13 26740335 26740335 single base substitution G A intron_variant OV-AU 13 26740336 26740336 single base substitution T A intron_variant OV-AU 13 26741422 26741422 single base substitution A G intron_variant OV-AU 13 26741766 26741766 single base substitution A G intron_variant OV-AU 13 26746005 26746005 single base substitution A T intron_variant OV-AU 13 26746039 26746039 single base substitution G A intron_variant OV-AU 13 26746959 26746959 single base substitution C T intron_variant OV-AU 13 26749078 26749078 single base substitution C A intron_variant OV-AU 13 26751047 26751047 single base substitution G T intron_variant OV-AU 13 26768567 26768567 single base substitution G T intron_variant OV-AU 13 26769031 26769031 single base substitution T C intron_variant OV-AU 13 26772772 26772772 single base substitution T C intron_variant OV-AU 13 26780833 26780833 single base substitution T C intron_variant OV-AU 13 26783012 26783012 single base substitution G C downstream_gene_variant OV-AU 13 26783012 26783012 single base substitution G C intron_variant OV-AU 13 26784650 26784650 single base substitution T A downstream_gene_variant OV-AU 13 26784650 26784650 single base substitution T A intron_variant OV-AU 13 26784687 26784687 single base substitution C T downstream_gene_variant OV-AU 13 26784687 26784687 single base substitution C T intron_variant OV-AU 13 26791979 26791979 single base substitution T G downstream_gene_variant OV-AU 13 26791979 26791979 single base substitution T G intron_variant OV-AU 13 26794229 26794229 single base substitution T A downstream_gene_variant OV-AU 13 26794229 26794229 single base substitution T A intron_variant OV-AU 13 26798901 26798901 single base substitution G C upstream_gene_variant OV-AU 13 26799114 26799114 single base substitution C T upstream_gene_variant PACA-AU 13 26701745 26701745 single base substitution G T downstream_gene_variant PACA-AU 13 26706665 26706665 single base substitution T C intron_variant PACA-AU 13 26708417 26708417 single base substitution C T intron_variant PACA-AU 13 26714924 26714924 single base substitution C A intron_variant PACA-AU 13 26719289 26719289 single base substitution T C intron_variant PACA-AU 13 26720761 26720761 single base substitution T C intron_variant PACA-AU 13 26720792 26720792 single base substitution C T intron_variant PACA-AU 13 26722431 26722431 single base substitution T A intron_variant PACA-AU 13 26729991 26729991 single base substitution A C intron_variant PACA-AU 13 26732497 26732497 single base substitution C T intron_variant PACA-AU 13 26733586 26733586 single base substitution C T intron_variant PACA-AU 13 26738203 26738203 single base substitution G T intron_variant PACA-AU 13 26743477 26743477 single base substitution C T intron_variant PACA-AU 13 26748858 26748858 single base substitution C T intron_variant PACA-AU 13 26749414 26749414 single base substitution G A intron_variant PACA-AU 13 26750895 26750895 single base substitution C A intron_variant PACA-AU 13 26751132 26751132 single base substitution G T intron_variant PACA-AU 13 26758002 26758002 single base substitution T A intron_variant PACA-AU 13 26758520 26758538 deletion of <=200bp CACTTTAAAAGTCTTCGAA - intron_variant PACA-AU 13 26766851 26766851 single base substitution G T intron_variant PACA-AU 13 26769630 26769630 single base substitution G C intron_variant PACA-AU 13 26771063 26771063 single base substitution G T intron_variant PACA-AU 13 26783924 26783925 deletion of <=200bp AT - downstream_gene_variant PACA-AU 13 26783924 26783925 deletion of <=200bp AT - intron_variant PACA-AU 13 26798690 26798690 single base substitution T A upstream_gene_variant PACA-CA 13 26701303 26701303 single base substitution G T downstream_gene_variant PACA-CA 13 26701708 26701708 single base substitution G T downstream_gene_variant PACA-CA 13 26703133 26703133 single base substitution G A downstream_gene_variant PACA-CA 13 26703695 26703695 single base substitution G A downstream_gene_variant PACA-CA 13 26706863 26706863 single base substitution G A intron_variant PACA-CA 13 26706877 26706877 single base substitution C T intron_variant PACA-CA 13 26707132 26707132 single base substitution C G intron_variant PACA-CA 13 26708164 26708164 single base substitution G A intron_variant PACA-CA 13 26709764 26709764 single base substitution T C intron_variant PACA-CA 13 26712285 26712285 single base substitution A C intron_variant PACA-CA 13 26713187 26713187 single base substitution C T intron_variant PACA-CA 13 26716736 26716736 single base substitution A G intron_variant PACA-CA 13 26717715 26717715 single base substitution T A intron_variant PACA-CA 13 26718096 26718096 single base substitution C A intron_variant PACA-CA 13 26718323 26718323 single base substitution T C intron_variant PACA-CA 13 26718430 26718430 single base substitution T A intron_variant PACA-CA 13 26719775 26719775 deletion of <=200bp A - intron_variant PACA-CA 13 26720617 26720617 single base substitution G A intron_variant PACA-CA 13 26724221 26724221 single base substitution C G intron_variant PACA-CA 13 26726479 26726479 single base substitution G A intron_variant PACA-CA 13 26728352 26728352 single base substitution G A intron_variant PACA-CA 13 26728894 26728894 single base substitution G A intron_variant PACA-CA 13 26730440 26730440 single base substitution C T intron_variant PACA-CA 13 26731736 26731736 insertion of <=200bp - A intron_variant PACA-CA 13 26735227 26735227 single base substitution C A intron_variant PACA-CA 13 26737940 26737940 single base substitution A G intron_variant PACA-CA 13 26738441 26738441 single base substitution A G intron_variant PACA-CA 13 26741037 26741037 single base substitution A G intron_variant PACA-CA 13 26742865 26742865 single base substitution C T intron_variant PACA-CA 13 26743020 26743020 single base substitution G T intron_variant PACA-CA 13 26743642 26743642 insertion of <=200bp - T intron_variant PACA-CA 13 26751115 26751115 single base substitution G A intron_variant PACA-CA 13 26753799 26753799 single base substitution T C intron_variant PACA-CA 13 26757631 26757631 single base substitution G A intron_variant PACA-CA 13 26757864 26757864 single base substitution G A intron_variant PACA-CA 13 26764287 26764287 single base substitution G A intron_variant PACA-CA 13 26768749 26768749 single base substitution A C intron_variant PACA-CA 13 26769506 26769506 deletion of <=200bp A - intron_variant PACA-CA 13 26780095 26780095 single base substitution C T intron_variant PACA-CA 13 26781734 26781734 single base substitution T C intron_variant PACA-CA 13 26788241 26788241 deletion of <=200bp A - downstream_gene_variant PACA-CA 13 26788241 26788241 deletion of <=200bp A - frameshift_variant L237 PACA-CA 13 26788241 26788241 deletion of <=200bp A - frameshift_variant L593 PACA-CA 13 26788241 26788241 deletion of <=200bp A - intron_variant PACA-CA 13 26790960 26790960 single base substitution C T downstream_gene_variant PACA-CA 13 26790960 26790960 single base substitution C T intron_variant PACA-CA 13 26792471 26792471 single base substitution C T downstream_gene_variant PACA-CA 13 26792471 26792471 single base substitution C T intron_variant PACA-CA 13 26794224 26794224 single base substitution G A downstream_gene_variant PACA-CA 13 26794224 26794224 single base substitution G A intron_variant PACA-CA 13 26798456 26798456 single base substitution G T upstream_gene_variant PACA-CA 13 26799340 26799340 insertion of <=200bp - A upstream_gene_variant PAEN-AU 13 26724009 26724010 deletion of <=200bp TA - intron_variant PAEN-AU 13 26725621 26725621 deletion of <=200bp A - intron_variant PAEN-AU 13 26727965 26727965 single base substitution G T intron_variant PAEN-AU 13 26733485 26733485 single base substitution G A intron_variant PAEN-AU 13 26743906 26743906 single base substitution G A intron_variant PAEN-AU 13 26769514 26769514 single base substitution C A intron_variant PAEN-IT 13 26729114 26729114 single base substitution G A intron_variant PBCA-DE 13 26703434 26703434 single base substitution C T downstream_gene_variant PBCA-DE 13 26705881 26705882 deletion of <=200bp TG - downstream_gene_variant PBCA-DE 13 26711554 26711554 insertion of <=200bp - A intron_variant PBCA-DE 13 26715721 26715721 single base substitution G A intron_variant PBCA-DE 13 26721318 26721318 single base substitution C T intron_variant PBCA-DE 13 26725937 26725937 single base substitution G A intron_variant PBCA-DE 13 26727058 26727058 single base substitution C T intron_variant PBCA-DE 13 26734532 26734532 insertion of <=200bp - T intron_variant PBCA-DE 13 26743688 26743688 single base substitution G A intron_variant PBCA-DE 13 26759808 26759808 single base substitution G A intron_variant PBCA-DE 13 26765417 26765417 single base substitution A C intron_variant PBCA-DE 13 26765433 26765433 single base substitution C A intron_variant PBCA-DE 13 26772799 26772799 single base substitution T A intron_variant PBCA-DE 13 26783924 26783925 deletion of <=200bp AT - downstream_gene_variant PBCA-DE 13 26783924 26783925 deletion of <=200bp AT - intron_variant PBCA-DE 13 26791274 26791274 insertion of <=200bp - TT downstream_gene_variant PBCA-DE 13 26791274 26791274 insertion of <=200bp - TT intron_variant PBCA-DE 13 26798701 26798701 single base substitution T C upstream_gene_variant PRAD-CA 13 26708928 26708928 single base substitution G A intron_variant PRAD-CA 13 26710692 26710692 single base substitution G A intron_variant PRAD-CA 13 26722925 26722925 single base substitution G A intron_variant PRAD-CA 13 26724041 26724041 single base substitution C G intron_variant PRAD-CA 13 26735620 26735620 single base substitution C T intron_variant PRAD-CA 13 26737175 26737175 single base substitution C T intron_variant PRAD-CA 13 26748918 26748918 single base substitution G A intron_variant PRAD-CA 13 26752966 26752966 single base substitution C T intron_variant PRAD-CA 13 26781321 26781321 single base substitution G A intron_variant PRAD-CA 13 26799564 26799564 single base substitution C T upstream_gene_variant PRAD-CA 13 26799710 26799710 single base substitution C T upstream_gene_variant PRAD-UK 13 26704911 26704914 deletion of <=200bp TCAT - downstream_gene_variant PRAD-UK 13 26706199 26706199 single base substitution G A downstream_gene_variant PRAD-UK 13 26715132 26715132 single base substitution G T intron_variant PRAD-UK 13 26718697 26718697 single base substitution T C intron_variant PRAD-UK 13 26720793 26720793 single base substitution G A intron_variant PRAD-UK 13 26730003 26730003 single base substitution G A intron_variant PRAD-UK 13 26757163 26757180 deletion of <=200bp TTTCTTTCCTGACATTTG - intron_variant PRAD-UK 13 26759393 26759393 single base substitution C A intron_variant PRAD-UK 13 26767285 26767285 deletion of <=200bp T - intron_variant PRAD-UK 13 26767899 26767899 single base substitution C A intron_variant PRAD-UK 13 26797951 26797951 single base substitution G T upstream_gene_variant PRAD-US 13 26788080 26788080 single base substitution G A downstream_gene_variant PRAD-US 13 26788080 26788080 single base substitution G A intron_variant PRAD-US 13 26788080 26788080 single base substitution G A stop_gained Q291* 871C>T PRAD-US 13 26788080 26788080 single base substitution G A stop_gained Q647* 1939C>T PRAD-US 13 26789603 26789603 single base substitution C T downstream_gene_variant PRAD-US 13 26789603 26789603 single base substitution C T exon_variant PRAD-US 13 26789603 26789603 single base substitution C T missense_variant R139Q 416G>A PRAD-US 13 26789603 26789603 single base substitution C T splice_region_variant READ-US 13 26788181 26788181 single base substitution T G downstream_gene_variant READ-US 13 26788181 26788181 single base substitution T G intron_variant READ-US 13 26788181 26788181 single base substitution T G missense_variant N257T 770A>C READ-US 13 26788181 26788181 single base substitution T G missense_variant N613T 1838A>C READ-US 13 26788240 26788240 insertion of <=200bp - A downstream_gene_variant READ-US 13 26788240 26788240 insertion of <=200bp - A frameshift_variant L237L? READ-US 13 26788240 26788240 insertion of <=200bp - A frameshift_variant L593L? READ-US 13 26788240 26788240 insertion of <=200bp - A intron_variant READ-US 13 26788761 26788761 single base substitution T A downstream_gene_variant READ-US 13 26788761 26788761 single base substitution T A intron_variant READ-US 13 26788761 26788761 single base substitution T A stop_gained R420* 1258A>T READ-US 13 26788761 26788761 single base substitution T A stop_gained R64* 190A>T READ-US 13 26789060 26789060 single base substitution C T downstream_gene_variant READ-US 13 26789060 26789060 single base substitution C T intron_variant READ-US 13 26789060 26789060 single base substitution C T missense_variant G320D 959G>A RECA-EU 13 26732313 26732313 single base substitution A G intron_variant RECA-EU 13 26732705 26732705 single base substitution T A intron_variant RECA-EU 13 26744866 26744866 single base substitution T A intron_variant RECA-EU 13 26750135 26750135 single base substitution C A intron_variant RECA-EU 13 26755177 26755177 single base substitution A T intron_variant RECA-EU 13 26765399 26765399 single base substitution A G intron_variant RECA-EU 13 26769844 26769844 single base substitution G A intron_variant RECA-EU 13 26775878 26775878 single base substitution T C intron_variant RECA-EU 13 26778004 26778004 single base substitution G T intron_variant RECA-EU 13 26783783 26783783 single base substitution C T downstream_gene_variant RECA-EU 13 26783783 26783783 single base substitution C T intron_variant RECA-EU 13 26784601 26784601 single base substitution C A downstream_gene_variant RECA-EU 13 26784601 26784601 single base substitution C A intron_variant RECA-EU 13 26794094 26794094 single base substitution A G downstream_gene_variant RECA-EU 13 26794094 26794094 single base substitution A G intron_variant RECA-EU 13 26794851 26794851 single base substitution T G downstream_gene_variant RECA-EU 13 26794851 26794851 single base substitution T G intron_variant RECA-EU 13 26801725 26801725 single base substitution C A upstream_gene_variant SKCA-BR 13 26701603 26701603 single base substitution G A downstream_gene_variant SKCA-BR 13 26701802 26701802 single base substitution A C downstream_gene_variant SKCA-BR 13 26702863 26702863 single base substitution G A downstream_gene_variant SKCA-BR 13 26703828 26703828 single base substitution A G downstream_gene_variant SKCA-BR 13 26704793 26704793 single base substitution C T downstream_gene_variant SKCA-BR 13 26708186 26708186 single base substitution T A intron_variant SKCA-BR 13 26711117 26711117 single base substitution C T intron_variant SKCA-BR 13 26712133 26712133 single base substitution G A intron_variant SKCA-BR 13 26712356 26712356 single base substitution G A intron_variant SKCA-BR 13 26712386 26712386 single base substitution G A intron_variant SKCA-BR 13 26712545 26712545 single base substitution G A intron_variant SKCA-BR 13 26712681 26712681 single base substitution C T intron_variant SKCA-BR 13 26712785 26712785 single base substitution G A intron_variant SKCA-BR 13 26713134 26713134 single base substitution C T intron_variant SKCA-BR 13 26714625 26714625 single base substitution G A intron_variant SKCA-BR 13 26714906 26714907 deletion of <=200bp AC - intron_variant SKCA-BR 13 26720154 26720154 single base substitution A G intron_variant SKCA-BR 13 26722287 26722289 deletion of <=200bp AAG - intron_variant SKCA-BR 13 26724006 26724016 deletion of <=200bp GTGTATATATA - intron_variant SKCA-BR 13 26725716 26725716 single base substitution C T intron_variant SKCA-BR 13 26726376 26726376 single base substitution G A intron_variant SKCA-BR 13 26727389 26727389 single base substitution T C intron_variant SKCA-BR 13 26727712 26727712 single base substitution G A intron_variant SKCA-BR 13 26727912 26727912 single base substitution G A intron_variant SKCA-BR 13 26727957 26727957 single base substitution A G intron_variant SKCA-BR 13 26727987 26727987 single base substitution G C intron_variant SKCA-BR 13 26729575 26729575 single base substitution C T intron_variant SKCA-BR 13 26730000 26730000 single base substitution G A intron_variant SKCA-BR 13 26730858 26730858 single base substitution T C intron_variant SKCA-BR 13 26731057 26731057 single base substitution G A intron_variant SKCA-BR 13 26732020 26732024 deletion of <=200bp AGATG - intron_variant SKCA-BR 13 26733695 26733695 single base substitution G A intron_variant SKCA-BR 13 26734663 26734671 deletion of <=200bp ATCTTCTTC - intron_variant SKCA-BR 13 26734874 26734874 single base substitution T C intron_variant SKCA-BR 13 26737426 26737426 single base substitution G A intron_variant SKCA-BR 13 26738825 26738825 single base substitution G A intron_variant SKCA-BR 13 26739216 26739216 single base substitution C T intron_variant SKCA-BR 13 26740012 26740012 single base substitution C A intron_variant SKCA-BR 13 26742234 26742234 single base substitution A T intron_variant SKCA-BR 13 26742634 26742634 single base substitution C T intron_variant SKCA-BR 13 26742689 26742689 single base substitution A G intron_variant SKCA-BR 13 26743956 26743956 single base substitution A G intron_variant SKCA-BR 13 26744293 26744293 single base substitution A G intron_variant SKCA-BR 13 26746039 26746039 single base substitution G A intron_variant SKCA-BR 13 26747331 26747331 single base substitution G T intron_variant SKCA-BR 13 26748633 26748633 insertion of <=200bp - CAA intron_variant SKCA-BR 13 26752654 26752654 single base substitution T G intron_variant SKCA-BR 13 26754474 26754474 single base substitution C T intron_variant SKCA-BR 13 26754488 26754488 single base substitution G A intron_variant SKCA-BR 13 26756869 26756869 single base substitution G A intron_variant SKCA-BR 13 26757694 26757694 single base substitution C T intron_variant SKCA-BR 13 26758390 26758390 single base substitution G A intron_variant SKCA-BR 13 26761412 26761412 single base substitution G C intron_variant SKCA-BR 13 26763464 26763464 insertion of <=200bp - CA intron_variant SKCA-BR 13 26764534 26764534 single base substitution C T intron_variant SKCA-BR 13 26766715 26766715 single base substitution A G intron_variant SKCA-BR 13 26768636 26768636 single base substitution C T intron_variant SKCA-BR 13 26768669 26768669 single base substitution C T intron_variant SKCA-BR 13 26769844 26769844 single base substitution G A intron_variant SKCA-BR 13 26770135 26770135 single base substitution A G intron_variant SKCA-BR 13 26775603 26775603 single base substitution G T intron_variant SKCA-BR 13 26778697 26778697 single base substitution C T intron_variant SKCA-BR 13 26782673 26782673 single base substitution T G downstream_gene_variant SKCA-BR 13 26782673 26782673 single base substitution T G intron_variant SKCA-BR 13 26785831 26785831 single base substitution G A downstream_gene_variant SKCA-BR 13 26785831 26785831 single base substitution G A intron_variant SKCA-BR 13 26791632 26791632 single base substitution G A downstream_gene_variant SKCA-BR 13 26791632 26791632 single base substitution G A intron_variant SKCA-BR 13 26793670 26793670 single base substitution G A 5_prime_UTR_variant SKCA-BR 13 26793670 26793670 single base substitution G A downstream_gene_variant SKCA-BR 13 26793670 26793670 single base substitution G A exon_variant SKCA-BR 13 26793670 26793670 single base substitution G A synonymous_variant A39A 117C>T SKCA-BR 13 26793671 26793671 single base substitution G A 5_prime_UTR_variant SKCA-BR 13 26793671 26793671 single base substitution G A downstream_gene_variant SKCA-BR 13 26793671 26793671 single base substitution G A exon_variant SKCA-BR 13 26793671 26793671 single base substitution G A missense_variant A39V 116C>T SKCM-US 13 26788126 26788126 single base substitution G A downstream_gene_variant SKCM-US 13 26788126 26788126 single base substitution G A intron_variant SKCM-US 13 26788126 26788126 single base substitution G A synonymous_variant I275I 825C>T SKCM-US 13 26788126 26788126 single base substitution G A synonymous_variant I631I 1893C>T SKCM-US 13 26788241 26788241 single base substitution A T downstream_gene_variant SKCM-US 13 26788241 26788241 single base substitution A T intron_variant SKCM-US 13 26788241 26788241 single base substitution A T stop_gained L237* 710T>A SKCM-US 13 26788241 26788241 single base substitution A T stop_gained L593* 1778T>A SKCM-US 13 26788621 26788621 single base substitution C T downstream_gene_variant SKCM-US 13 26788621 26788621 single base substitution C T intron_variant SKCM-US 13 26788621 26788621 single base substitution C T synonymous_variant R110R 330G>A SKCM-US 13 26788621 26788621 single base substitution C T synonymous_variant R466R 1398G>A SKCM-US 13 26788680 26788680 single base substitution G A downstream_gene_variant SKCM-US 13 26788680 26788680 single base substitution G A intron_variant SKCM-US 13 26788680 26788680 single base substitution G A missense_variant R447C 1339C>T SKCM-US 13 26788680 26788680 single base substitution G A missense_variant R91C 271C>T SKCM-US 13 26788868 26788868 single base substitution G A downstream_gene_variant SKCM-US 13 26788868 26788868 single base substitution G A intron_variant SKCM-US 13 26788868 26788868 single base substitution G A missense_variant S28F 83C>T SKCM-US 13 26788868 26788868 single base substitution G A missense_variant S384F 1151C>T SKCM-US 13 26789042 26789042 single base substitution G A downstream_gene_variant SKCM-US 13 26789042 26789042 single base substitution G A intron_variant SKCM-US 13 26789042 26789042 single base substitution G A missense_variant S326F 977C>T SKCM-US 13 26789091 26789091 single base substitution G A downstream_gene_variant SKCM-US 13 26789091 26789091 single base substitution G A intron_variant SKCM-US 13 26789091 26789091 single base substitution G A stop_gained R310* 928C>T SKCM-US 13 26789453 26789453 single base substitution G A downstream_gene_variant SKCM-US 13 26789453 26789453 single base substitution G A exon_variant SKCM-US 13 26789453 26789453 single base substitution G A intron_variant SKCM-US 13 26789453 26789453 single base substitution G A missense_variant S189L 566C>T SKCM-US 13 26789559 26789559 single base substitution G A downstream_gene_variant SKCM-US 13 26789559 26789559 single base substitution G A exon_variant SKCM-US 13 26789559 26789559 single base substitution G A intron_variant SKCM-US 13 26789559 26789559 single base substitution G A missense_variant H154Y 460C>T STAD-US 13 26788241 26788241 insertion of <=200bp - A downstream_gene_variant STAD-US 13 26788241 26788241 insertion of <=200bp - A frameshift_variant L237F? STAD-US 13 26788241 26788241 insertion of <=200bp - A frameshift_variant L593F? STAD-US 13 26788241 26788241 insertion of <=200bp - A intron_variant STAD-US 13 26788301 26788301 single base substitution T G downstream_gene_variant STAD-US 13 26788301 26788301 single base substitution T G intron_variant STAD-US 13 26788301 26788301 single base substitution T G missense_variant N217T 650A>C STAD-US 13 26788301 26788301 single base substitution T G missense_variant N573T 1718A>C STAD-US 13 26788460 26788460 single base substitution A G downstream_gene_variant STAD-US 13 26788460 26788460 single base substitution A G intron_variant STAD-US 13 26788460 26788460 single base substitution A G missense_variant L164P 491T>C STAD-US 13 26788460 26788460 single base substitution A G missense_variant L520P 1559T>C STAD-US 13 26788943 26788943 single base substitution C T downstream_gene_variant STAD-US 13 26788943 26788943 single base substitution C T intron_variant STAD-US 13 26788943 26788943 single base substitution C T missense_variant R359H 1076G>A STAD-US 13 26788949 26788949 single base substitution C T downstream_gene_variant STAD-US 13 26788949 26788949 single base substitution C T intron_variant STAD-US 13 26788949 26788949 single base substitution C T missense_variant R357Q 1070G>A STAD-US 13 26789090 26789090 single base substitution C T downstream_gene_variant STAD-US 13 26789090 26789090 single base substitution C T intron_variant STAD-US 13 26789090 26789090 single base substitution C T missense_variant R310Q 929G>A STAD-US 13 26789264 26789264 single base substitution C T downstream_gene_variant STAD-US 13 26789264 26789264 single base substitution C T intron_variant STAD-US 13 26789264 26789264 single base substitution C T missense_variant R252H 755G>A STAD-US 13 26792703 26792703 single base substitution G A 5_prime_UTR_variant STAD-US 13 26792703 26792703 single base substitution G A downstream_gene_variant STAD-US 13 26792703 26792703 single base substitution G A exon_variant STAD-US 13 26792703 26792703 single base substitution G A synonymous_variant G78G 234C>T STAD-US 13 26792713 26792713 single base substitution C T 5_prime_UTR_variant STAD-US 13 26792713 26792713 single base substitution C T downstream_gene_variant STAD-US 13 26792713 26792713 single base substitution C T exon_variant STAD-US 13 26792713 26792713 single base substitution C T missense_variant R75Q 224G>A THCA-SA 13 26788797 26788797 single base substitution G C downstream_gene_variant THCA-SA 13 26788797 26788797 single base substitution G C intron_variant THCA-SA 13 26788797 26788797 single base substitution G C missense_variant P408A 1222C>G THCA-SA 13 26788797 26788797 single base substitution G C missense_variant P52A 154C>G UCEC-US 13 26788304 26788304 single base substitution C T downstream_gene_variant UCEC-US 13 26788304 26788304 single base substitution C T intron_variant UCEC-US 13 26788304 26788304 single base substitution C T missense_variant R216Q 647G>A UCEC-US 13 26788304 26788304 single base substitution C T missense_variant R572Q 1715G>A UCEC-US 13 26788644 26788644 single base substitution T C downstream_gene_variant UCEC-US 13 26788644 26788644 single base substitution T C intron_variant UCEC-US 13 26788644 26788644 single base substitution T C missense_variant T103A 307A>G UCEC-US 13 26788644 26788644 single base substitution T C missense_variant T459A 1375A>G UCEC-US 13 26788659 26788659 single base substitution G A downstream_gene_variant UCEC-US 13 26788659 26788659 single base substitution G A intron_variant UCEC-US 13 26788659 26788659 single base substitution G A stop_gained R454* 1360C>T UCEC-US 13 26788659 26788659 single base substitution G A stop_gained R98* 292C>T UCEC-US 13 26788844 26788844 single base substitution C T downstream_gene_variant UCEC-US 13 26788844 26788844 single base substitution C T intron_variant UCEC-US 13 26788844 26788844 single base substitution C T missense_variant R36Q 107G>A UCEC-US 13 26788844 26788844 single base substitution C T missense_variant R392Q 1175G>A UCEC-US 13 26789198 26789198 single base substitution C T downstream_gene_variant UCEC-US 13 26789198 26789198 single base substitution C T intron_variant UCEC-US 13 26789198 26789198 single base substitution C T missense_variant R274Q 821G>A UCEC-US 13 26789203 26789203 single base substitution C T downstream_gene_variant UCEC-US 13 26789203 26789203 single base substitution C T intron_variant UCEC-US 13 26789203 26789203 single base substitution C T synonymous_variant G272G 816G>A UCEC-US 13 26789362 26789362 single base substitution T A downstream_gene_variant UCEC-US 13 26789362 26789362 single base substitution T A exon_variant UCEC-US 13 26789362 26789362 single base substitution T A intron_variant UCEC-US 13 26789362 26789362 single base substitution T A synonymous_variant S219S 657A>T UCEC-US 13 26789432 26789432 single base substitution C T downstream_gene_variant UCEC-US 13 26789432 26789432 single base substitution C T exon_variant UCEC-US 13 26789432 26789432 single base substitution C T intron_variant UCEC-US 13 26789432 26789432 single base substitution C T missense_variant R196Q 587G>A UCEC-US 13 26789544 26789544 single base substitution T G downstream_gene_variant UCEC-US 13 26789544 26789544 single base substitution T G exon_variant UCEC-US 13 26789544 26789544 single base substitution T G intron_variant UCEC-US 13 26789544 26789544 single base substitution T G missense_variant N159H 475A>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-C5-A1BK-01 COSM4826164 c.1461C>T p.I487I Substitution - coding silent 13:26214421-26214421 - sysucc-1397T COSM5473458 c.1548G>A p.M516I Substitution - Missense 13:26214334-26214334 - CLL058 COSM1289887 c.519A>C p.P173P Substitution - coding silent 13:26215363-26215363 - T1221 COSM4722213 c.210_211insA p.E71fs*18 Insertion - Frameshift 13:26218589-26218590 - LUAD-F00162 COSM366136 c.1454G>T p.R485M Substitution - Missense 13:26214428-26214428 - WA16 COSM238106 c.1908T>C p.I636I Substitution - coding silent 13:26213974-26213974 - LIM2405 COSM2069784 c.234C>T p.G78G Substitution - coding silent 13:26218566-26218566 - CSCC-47-T COSM4521599 c.1119G>T p.V373V Substitution - coding silent 13:26214763-26214763 - TCGA-AX-A0J0-01 COSM946368 c.475A>C p.N159H Substitution - Missense 13:26215407-26215407 - TCGA-GD-A2C5-01 COSM1300103 c.119A>G p.Y40C Substitution - Missense 13:26219531-26219531 - pfg062T COSM4751564 c.1137A>T p.E379D Substitution - Missense 13:26214745-26214745 - SNUH_G76_S1 COSM4419621 c.381A>G p.G127G Substitution - coding silent 13:26215501-26215501 - CCC64T COSM3704578 c.916A>G p.T306A Substitution - Missense 13:26214966-26214966 - 12T COSM107961 c.868A>T p.T290S Substitution - Missense 13:26215014-26215014 - T155 COSM1177015 c.929G>A p.R310Q Substitution - Missense 13:26214953-26214953 - TCGA-B5-A0JY-01 COSM946359 c.1715G>A p.R572Q Substitution - Missense 13:26214167-26214167 - TCGA-D3-A3MR-06 COSM3467985 c.1893C>T p.I631I Substitution - coding silent 13:26213989-26213989 - TCGA-EE-A29B-06 COSM3467987 c.1398G>A p.R466R Substitution - coding silent 13:26214484-26214484 - T3444 COSM4722210 c.2010G>T p.P670P Substitution - coding silent 13:26213872-26213872 - TCGA-AP-A0LM-01 COSM946367 c.587G>A p.R196Q Substitution - Missense 13:26215295-26215295 - SNUH_G76_S1 COSM4417128 c.143A>G p.N48S Substitution - Missense 13:26219507-26219507 - T368 COSM4722211 c.1981C>T p.R661* Substitution - Nonsense 13:26213901-26213901 - TCGA-E2-A159-01 COSM432253 c.94G>A p.E32K Substitution - Missense 13:26219556-26219556 - TCGA-AA-A010-01 COSM284641 c.860G>T p.S287I Substitution - Missense 13:26215022-26215022 - T3024 COSM1366122 c.1778delT p.L593fs*2 Deletion - Frameshift 13:26214104-26214104 - TCGA-AP-A051-01 COSM946363 c.821G>A p.R274Q Substitution - Missense 13:26215061-26215061 - TCGA-EE-A3JD-06 COSM4397470 c.928C>T p.R310* Substitution - Nonsense 13:26214954-26214954 - BD194T COSM183994 c.754C>T p.R252C Substitution - Missense 13:26215128-26215128 - TCGA-A2-A25C-01 COSM1477167 c.1469G>A p.G490E Substitution - Missense 13:26214413-26214413 - sysucc-823T COSM946362 c.1175G>A p.R392Q Substitution - Missense 13:26214707-26214707 - RK069_C01 COSM1629032 c.1200C>T p.D400D Substitution - coding silent 13:26214682-26214682 - TCGA-HU-A4H8-01 COSM4046781 c.224G>A p.R75Q Substitution - Missense 13:26218576-26218576 - PTC-14C COSM4147671 c.1863T>C p.H621H Substitution - coding silent 13:26214019-26214019 - TCGA-AM-5820-01 COSM3753634 c.1905T>C p.C635C Substitution - coding silent 13:26213977-26213977 - Pat_41_B COSM5842335 c.1016G>A p.R339K Substitution - Missense 13:26214866-26214866 - PD6729a2 COSM5795878 c.352C>T p.R118W Substitution - Missense 13:26215530-26215530 - TCGA-CM-6168-01 COSM1366123 c.1177C>T p.R393* Substitution - Nonsense 13:26214705-26214705 - TCGA-C8-A26Y-01 COSM3813641 c.40G>C p.E14Q Substitution - Missense 13:26219610-26219610 - TCGA-F5-6814-01 COSM3417489 c.1838A>C p.N613T Substitution - Missense 13:26214044-26214044 - Pat_32_A COSM5842334 c.1240C>T p.R414W Substitution - Missense 13:26214642-26214642 - TCGA-HU-A4H4-01 COSM4046777 c.1718A>C p.N573T Substitution - Missense 13:26214164-26214164 - TCGA-HC-A6AN-01 COSM4392916 c.416G>A p.R139Q Substitution - Missense 13:26215466-26215466 - ESO-0015 COSM1264405 c.1589G>A p.S530N Substitution - Missense 13:26214293-26214293 - TCGA-D3-A2JF-06 COSM3467988 c.1339C>T p.R447C Substitution - Missense 13:26214543-26214543 - SA052 COSM214127 c.1714C>T p.R572* Substitution - Nonsense 13:26214168-26214168 - HCC49T COSM1606963 c.1511C>A p.S504* Substitution - Nonsense 13:26214371-26214371 - RKO COSM2069784 c.234C>T p.G78G Substitution - coding silent 13:26218566-26218566 - 2217540 COSM4421923 c.1986G>C p.W662C Substitution - Missense 13:26213896-26213896 - TCGA-AA-A010-01 COSM284642 c.246A>C p.Q82H Substitution - Missense 13:26218554-26218554 - NPC15F COSM214127 c.1714C>T p.R572* Substitution - Nonsense 13:26214168-26214168 - pfg073T COSM4751565 c.59A>G p.H20R Substitution - Missense 13:26219591-26219591 - PT38 COSM5923047 c.886C>T p.Q296* Substitution - Nonsense 13:26214996-26214996 - BRC18 COSM5027746 c.18G>T p.S6S Substitution - coding silent 13:26219632-26219632 - TCGA-GV-A3JZ-01 COSM1300102 c.1303G>A p.E435K Substitution - Missense 13:26214579-26214579 - T2932 COSM1562326 c.1778_1779insT p.L593fs*4 Insertion - Frameshift 13:26214103-26214104 - PD18189a COSM5800739 c.267G>A p.L89L Substitution - coding silent 13:26218533-26218533 - MSK-PCa4_organoid COSM946363 c.821G>A p.R274Q Substitution - Missense 13:26215061-26215061 - TCGA-A5-A0GW-01 COSM946364 c.820C>T p.R274W Substitution - Missense 13:26215062-26215062 - TCGA-FW-A3R5-06 COSM3885150 c.977C>T p.S326F Substitution - Missense 13:26214905-26214905 - ESCC_BICR_067T COSM5433389 c.1505C>G p.S502C Substitution - Missense 13:26214377-26214377 - LUAD-E00934 COSM393229 c.1325G>C p.R442P Substitution - Missense 13:26214557-26214557 - TCGA-EW-A1J5-01 COSM1477166 c.1830G>A p.Q610Q Substitution - coding silent 13:26214052-26214052 - GC_356T-GC_356N COSM3467988 c.1339C>T p.R447C Substitution - Missense 13:26214543-26214543 - pfg122T COSM4441379 c.1220G>A p.R407H Substitution - Missense 13:26214662-26214662 - TCGA-DD-A113-01 COSM4925298 c.2007T>C p.C669C Substitution - coding silent 13:26213875-26213875 - TCGA-60-2698-01 COSM696869 c.1337C>G p.S446C Substitution - Missense 13:26214545-26214545 - TCGA-AK-3429-01 COSM469296 c.1219C>A p.R407S Substitution - Missense 13:26214663-26214663 - DN1121A COSM5800739 c.267G>A p.L89L Substitution - coding silent 13:26218533-26218533 - RK044_C01 COSM1629031 c.2005T>C p.C669R Substitution - Missense 13:26213877-26213877 - TCGA-CA-6717-01 COSM1366121 c.1805G>A p.R602Q Substitution - Missense 13:26214077-26214077 - Pat_73_A COSM5842333 c.1393C>T p.R465C Substitution - Missense 13:26214489-26214489 - TCGA-AP-A0LM-01 COSM946362 c.1175G>A p.R392Q Substitution - Missense 13:26214707-26214707 - PTC_212 COSM5958302 c.1222C>G p.P408A Substitution - Missense 13:26214660-26214660 - TCGA-BR-8680-01 COSM1177015 c.929G>A p.R310Q Substitution - Missense 13:26214953-26214953 - BD124T COSM5493086 c.525A>C p.S175S Substitution - coding silent 13:26215357-26215357 - TCGA-EJ-5525-01 COSM1128390 c.1939C>T p.Q647* Substitution - Nonsense 13:26213943-26213943 - TCGA-CD-A4MG-01 COSM4046779 c.1076G>A p.R359H Substitution - Missense 13:26214806-26214806 - PT16_1 COSM5898471 c.1759C>T p.R587C Substitution - Missense 13:26214123-26214123 - 587376 COSM1224025 c.1523G>T p.R508I Substitution - Missense 13:26214359-26214359 - LUAD-CHTN-MAD06-00490 COSM357950 c.493C>T p.H165Y Substitution - Missense 13:26215389-26215389 - PT21_2 COSM5901847 c.670C>T p.P224S Substitution - Missense 13:26215212-26215212 - TCGA-EB-A3XC-01 COSM3467986 c.1778T>A p.L593* Substitution - Nonsense 13:26214104-26214104 - Pat_60_B COSM1706579 c.1324C>T p.R442C Substitution - Missense 13:26214558-26214558 - C126 COSM4441379 c.1220G>A p.R407H Substitution - Missense 13:26214662-26214662 - TCGA-EI-6507-01 COSM1562326 c.1778_1779insT p.L593fs*4 Insertion - Frameshift 13:26214103-26214104 - OV207 COSM252787 c.1348C>T p.R450W Substitution - Missense 13:26214534-26214534 - TCGA-RP-A695-06 COSM4896806 c.1151C>T p.S384F Substitution - Missense 13:26214731-26214731 - TCGA-A4-7286-01 COSM3987349 c.1687A>T p.S563C Substitution - Missense 13:26214195-26214195 - 259 COSM3732633 c.1763T>C p.L588P Substitution - Missense 13:26214119-26214119 - TCGA-A6-6140-01 COSM3688657 c.1447A>T p.I483F Substitution - Missense 13:26214435-26214435 - CSCC-54-T COSM4460908 c.1184C>T p.P395L Substitution - Missense 13:26214698-26214698 - TCGA-GN-A265-06 COSM3467989 c.460C>T p.H154Y Substitution - Missense 13:26215422-26215422 - ESCC_51 COSM5630991 c.698G>A p.G233E Substitution - Missense 13:26215184-26215184 - CHC433T COSM3765686 c.888A>G p.Q296Q Substitution - coding silent 13:26214994-26214994 - HCT-116 COSM1684359 c.845delA p.N283fs*9 Deletion - Frameshift 13:26215037-26215037 - BD124T COSM5493085 c.747C>T p.N249N Substitution - coding silent 13:26215135-26215135 - T30 COSM3753634 c.1905T>C p.C635C Substitution - coding silent 13:26213977-26213977 - TCGA-LL-A5YO-01 COSM4391591 c.1511C>G p.S504* Substitution - Nonsense 13:26214371-26214371 - TCGA-FU-A3HZ-01 COSM4840495 c.709A>C p.N237H Substitution - Missense 13:26215173-26215173 - LUAD-RT-S01774 COSM381375 c.80G>A p.R27K Substitution - Missense 13:26219570-26219570 - TCGA-HU-A4HD-01 COSM183993 c.755G>A p.R252H Substitution - Missense 13:26215127-26215127 - Pat_14_A COSM1366122 c.1778delT p.L593fs*2 Deletion - Frameshift 13:26214104-26214104 - I2L-P19Ta-Tumor-Organoid COSM4046779 c.1076G>A p.R359H Substitution - Missense 13:26214806-26214806 - ESCC-207T COSM3936279 c.643A>C p.T215P Substitution - Missense 13:26215239-26215239 - TCGA-HT-7688-01 COSM252787 c.1348C>T p.R450W Substitution - Missense 13:26214534-26214534 - TCGA-AA-A00N-01 COSM277088 c.442C>T p.R148W Substitution - Missense 13:26215440-26215440 - ESO-003 COSM1264406 c.150A>G p.E50E Substitution - coding silent 13:26219500-26219500 - TCGA-AP-A0LM-01 COSM946361 c.1360C>T p.R454* Substitution - Nonsense 13:26214522-26214522 - CCC64 COSM3704578 c.916A>G p.T306A Substitution - Missense 13:26214966-26214966 - 9096_T COSM5040329 c.1298C>T p.T433I Substitution - Missense 13:26214584-26214584 - U2940 COSM5621724 c.1283C>T p.A428V Substitution - Missense 13:26214599-26214599 - Pat_65_A COSM1366122 c.1778delT p.L593fs*2 Deletion - Frameshift 13:26214104-26214104 - PDA_063 COSM5001228 c.2044G>T p.A682S Substitution - Missense 13:26213838-26213838 - TCGA-D1-A103-01 COSM946360 c.1375A>G p.T459A Substitution - Missense 13:26214507-26214507 - TCGA-AX-A0J1-01 COSM946365 c.816G>A p.G272G Substitution - coding silent 13:26215066-26215066 - TCGA-HU-A4H3-01 COSM4046778 c.1559T>C p.L520P Substitution - Missense 13:26214323-26214323 - 8012207 COSM1168778 c.1165A>T p.T389S Substitution - Missense 13:26214717-26214717 - CSCC-47-T COSM4528138 c.1513G>C p.E505Q Substitution - Missense 13:26214369-26214369 - TCGA-FW-A3R5-06 COSM3885151 c.566C>T p.S189L Substitution - Missense 13:26215316-26215316 - TCGA-AA-3510-01 COSM1366125 c.911G>A p.R304Q Substitution - Missense 13:26214971-26214971 - YUKLAB COSM1706579 c.1324C>T p.R442C Substitution - Missense 13:26214558-26214558 - BD135T COSM1366122 c.1778delT p.L593fs*2 Deletion - Frameshift 13:26214104-26214104 - I2L-P19Ta-Tumor-Biopsy COSM4046779 c.1076G>A p.R359H Substitution - Missense 13:26214806-26214806 - J73_T COSM3955486 c.1466C>A p.T489N Substitution - Missense 13:26214416-26214416 - PD4132a COSM164066 c.493C>G p.H165D Substitution - Missense 13:26215389-26215389 - ccRCC-60 COSM1663943 c.1662G>C p.E554D Substitution - Missense 13:26214220-26214220 - TCGA-AH-6643-01 COSM1562325 c.1258A>T p.R420* Substitution - Nonsense 13:26214624-26214624 - 2318491 COSM4776706 c.796G>A p.E266K Substitution - Missense 13:26215086-26215086 - BD199T COSM3704578 c.916A>G p.T306A Substitution - Missense 13:26214966-26214966 - HCC49 COSM1606963 c.1511C>A p.S504* Substitution - Nonsense 13:26214371-26214371 - T96 COSM4722212 c.910C>T p.R304* Substitution - Nonsense 13:26214972-26214972 - TCGA-LG-A6GG-01 COSM4939661 c.870A>T p.T290T Substitution - coding silent 13:26215012-26215012 - TCGA-G4-6628-01 COSM1366120 c.2042_2043delTA p.I681fs*>5 Deletion - Frameshift 13:26213839-26213840 - PD18768a COSM5790574 c.193+10G>A p.? Unknown 13:26219447-26219447 - Pat_24_A COSM946367 c.587G>A p.R196Q Substitution - Missense 13:26215295-26215295 - ESO-859 COSM1240083 c.1340G>A p.R447H Substitution - Missense 13:26214542-26214542 - PD11399a COSM5779825 c.2046A>C p.A682A Substitution - coding silent 13:26213836-26213836 - TCGA-B5-A11V-01 COSM946366 c.657A>T p.S219S Substitution - coding silent 13:26215225-26215225 - TCGA-25-2399-01 COSM72464 c.370A>G p.T124A Substitution - Missense 13:26215512-26215512 - TCGA-BH-A0BS-01 COSM432254 c.77A>G p.E26G Substitution - Missense 13:26219573-26219573 - TCGA-AA-A010-01 COSM284640 c.1361G>A p.R454Q Substitution - Missense 13:26214521-26214521 - TCGA-CA-6717-01 COSM1366124 c.1087G>A p.A363T Substitution - Missense 13:26214795-26214795 - ME043T COSM228598 c.1282G>C p.A428P Substitution - Missense 13:26214600-26214600 - Pat_15_B COSM5842332 c.1424C>A p.P475Q Substitution - Missense 13:26214458-26214458 - TCGA-BR-4184-01 COSM2069784 c.234C>T p.G78G Substitution - coding silent 13:26218566-26218566 - TCGA-F5-6814-01 COSM3417490 c.959G>A p.G320D Substitution - Missense 13:26214923-26214923 - TCGA-D7-8579-01 COSM4046780 c.1070G>A p.R357Q Substitution - Missense 13:26214812-26214812 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.136885 13q12.2 604242

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L677V c.2029T>G 13 26787990 CM C A Synonymous p.P142P c.426G>T 13 26789593 CM C A Synonymous p.S6S c.18G>T 13 26793769 BRCA C G Missense p.A428P c.1282G>C 13 26788737 CM C G Missense p.E167Q c.499G>C 13 26789520 LUAD C T Missense p.E32K c.94G>A 13 26793693 BRCA C T Missense p.E435K c.1303G>A 13 26788716 BLCA C T Missense p.G490E c.1469G>A 13 26788550 BRCA C T Missense p.R135K c.404G>A 13 26789615 HNSC C T Missense p.R139Q c.416G>A 13 26789603 PRAD C T Missense p.R447H c.1340G>A 13 26788679 ESCA C T Missense p.S530N c.1589G>A 13 26788430 ESCA C T Synonymous p.R466R c.1398G>A 13 26788621 CM G A Missense p.H154Y c.460C>T 13 26789559 CM G A Missense p.R447C c.1339C>T 13 26788680 CM G A Missense p.R450W c.1348C>T 13 26788671 LGG G A Missense p.S615F c.1844C>T 13 26788175 CM G A Nonsense p.Q327* c.979C>T 13 26789040 HNSC G A Nonsense p.Q647* c.1939C>T 13 26788080 PRAD G A Nonsense p.R310* c.928C>T 13 26789091 CM G A Nonsense p.R572* c.1714C>T 13 26788305 BRCA G A Synonymous p.D400D c.1200C>T 13 26788819 HC G A Synonymous p.I631I c.1893C>T 13 26788126 CM G C Missense p.H165D c.493C>G 13 26789526 BRCA G C Missense p.L60V c.178C>G 13 26793609 HNSC G C Missense p.Q538E c.1612C>G 13 26788407 CM G T Missense p.P87H c.260C>A 13 26792677 CM T A Missense p.T389S c.1165A>T 13 26788854 PAAD T A Synonymous p.S219S c.657A>T 13 26789362 UCEC T C Missense p.E26G c.77A>G 13 26793710 BRCA T C Missense p.N470S c.1409A>G 13 26788610 COREAD T C Missense p.T124A c.370A>G 13 26789649 OV T C Missense p.Y40C c.119A>G 13 26793668 BLCA T C Synonymous p.E50E c.150A>G 13 26793637 ESCA T G Synonymous p.P173P c.519A>C 13 26789500 CLL