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 1 1550988 1550988 + 5'UTR SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr1:1550988G>C BLCA 1 1551937 1551937 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr1:1551937C>T c.53C>T c.(52-54)tCa>tTa p.S18L BLCA 1 1559306 1559306 + Missense_Mutation SNP G G A TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr1:1559306G>A c.574G>A c.(574-576)Gag>Aag p.E192K BLCA 1 1560501 1560501 + Silent SNP G G A TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 g.chr1:1560501G>A c.831G>A c.(829-831)gtG>gtA p.V277V BLCA 1 1562790 1562790 + Missense_Mutation SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr1:1562790G>A c.1663G>A c.(1663-1665)Gag>Aag p.E555K BLCA 1 1563943 1563943 + Silent SNP G G A TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 g.chr1:1563943G>A c.2217G>A c.(2215-2217)gtG>gtA p.V739V BLCA 1 1564037 1564037 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr1:1564037C>G c.2311C>G c.(2311-2313)Cag>Gag p.Q771E BLCA 1 1565853 1565853 + Silent SNP C C G TCGA-E7-A541-01A-11D-A26M-08 TCGA-E7-A541-10A-01D-A26K-08 g.chr1:1565853C>G c.2985C>G c.(2983-2985)ctC>ctG p.L995L BRCA 1 1560701 1560701 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr1:1560701G>A c.931G>A c.(931-933)Gac>Aac p.D311N BRCA 1 1565047 1565047 + Missense_Mutation SNP C C G TCGA-E2-A1LG-01A-21D-A14K-09 TCGA-E2-A1LG-11A-42D-A14K-09 g.chr1:1565047C>G c.2766C>G c.(2764-2766)atC>atG p.I922M CESC 1 1551903 1551903 + Missense_Mutation SNP G G A TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 g.chr1:1551903G>A c.19G>A c.(19-21)Gag>Aag p.E7K COAD 1 1558768 1558768 + Splice_Site SNP G G T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr1:1558768G>T c.e3-1 COAD 1 1558857 1558857 + Missense_Mutation SNP G G A TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr1:1558857G>A c.199G>A c.(199-201)Gtg>Atg p.V67M COAD 1 1559290 1559290 + Silent SNP C C T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr1:1559290C>T c.558C>T c.(556-558)caC>caT p.H186H COAD 1 1562546 1562546 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr1:1562546G>A c.1507G>A c.(1507-1509)Gca>Aca p.A503T COAD 1 1563967 1563967 + Silent SNP C C T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr1:1563967C>T c.2241C>T c.(2239-2241)gaC>gaT p.D747D COAD 1 1563985 1563985 + Silent SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr1:1563985C>T c.2259C>T c.(2257-2259)aaC>aaT p.N753N COAD 1 1564900 1564900 + Silent SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr1:1564900G>A c.2691G>A c.(2689-2691)gcG>gcA p.A897A COAD 1 1565023 1565023 + Silent SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:1565023C>T c.2742C>T c.(2740-2742)tgC>tgT p.C914C COAD 1 1565079 1565079 + Missense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr1:1565079G>A c.2798G>A c.(2797-2799)cGc>cAc p.R933H COADREAD 1 1558755 1558796 + Splice_Site DEL CCCTCTGCCCACAGGTCCCGAGCAGCCCGGCCCACCATGGAC CCCTCTGCCCACAGGTCCCGAGCAGCCCGGCCCACCATGGAC - TCGA-CI-6620-01A-11D-1826-10 TCGA-CI-6620-10A-01D-1826-10 g.chr1:1558755_1558796delCCCTCTGCCCACAGGTCCCGAGCAGCCCGGCCCACCATGGAC c.110_138delCCCTCTGCCCACAGGTCCCGAGCAGCCCGGCCCACCATGGAC c.(109-138)accctctgcccacaggtcccgagcagcccg>a p.TLCPQVPSSP37del COADREAD 1 1558768 1558768 + Splice_Site SNP G G T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr1:1558768G>T c.e3-1 COADREAD 1 1558857 1558857 + Missense_Mutation SNP G G A TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr1:1558857G>A c.199G>A c.(199-201)Gtg>Atg p.V67M COADREAD 1 1559290 1559290 + Silent SNP C C T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr1:1559290C>T c.558C>T c.(556-558)caC>caT p.H186H COADREAD 1 1562546 1562546 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr1:1562546G>A c.1507G>A c.(1507-1509)Gca>Aca p.A503T COADREAD 1 1563967 1563967 + Silent SNP C C T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr1:1563967C>T c.2241C>T c.(2239-2241)gaC>gaT p.D747D COADREAD 1 1563985 1563985 + Silent SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr1:1563985C>T c.2259C>T c.(2257-2259)aaC>aaT p.N753N COADREAD 1 1564900 1564900 + Silent SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr1:1564900G>A c.2691G>A c.(2689-2691)gcG>gcA p.A897A COADREAD 1 1565023 1565023 + Silent SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:1565023C>T c.2742C>T c.(2740-2742)tgC>tgT p.C914C COADREAD 1 1565079 1565079 + Missense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr1:1565079G>A c.2798G>A c.(2797-2799)cGc>cAc p.R933H DLBC 1 1564064 1564064 + Missense_Mutation SNP G G A TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr1:1564064G>A c.2338G>A c.(2338-2340)Gcc>Acc p.A780T DLBC 1 1565043 1565043 + Missense_Mutation SNP G G A TCGA-GS-A9TZ-01A-11D-A38X-10 TCGA-GS-A9TZ-10A-01D-A38X-10 g.chr1:1565043G>A c.2762G>A c.(2761-2763)tGc>tAc p.C921Y ESCA 1 1562725 1562725 + Missense_Mutation SNP T T C TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 g.chr1:1562725T>C c.1598T>C c.(1597-1599)cTg>cCg p.L533P GBM 1 1563429 1563429 + Missense_Mutation SNP G G A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 g.chr1:1563429G>A c.1885G>A c.(1885-1887)Gcc>Acc p.A629T GBM 1 1563750 1563750 + Missense_Mutation SNP C C T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 g.chr1:1563750C>T c.2113C>T c.(2113-2115)Cgc>Tgc p.R705C GBMLGG 1 1558852 1558852 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:1558852C>T c.194C>T c.(193-195)gCg>gTg p.A65V GBMLGG 1 1560486 1560486 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:1560486C>T c.816C>T c.(814-816)ggC>ggT p.G272G GBMLGG 1 1560729 1560729 + Missense_Mutation SNP A A G TCGA-DH-5141-01A-01D-1468-08 TCGA-DH-5141-10A-01D-1468-08 g.chr1:1560729A>G c.959A>G c.(958-960)aAg>aGg p.K320R GBMLGG 1 1563188 1563188 + Silent SNP C C T TCGA-E1-5302-01A-01D-1468-08 TCGA-E1-5302-10A-01D-1468-08 g.chr1:1563188C>T c.1833C>T c.(1831-1833)cgC>cgT p.R611R GBMLGG 1 1563429 1563429 + Missense_Mutation SNP G G A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 g.chr1:1563429G>A c.1885G>A c.(1885-1887)Gcc>Acc p.A629T GBMLGG 1 1563491 1563491 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:1563491C>T c.1947C>T c.(1945-1947)atC>atT p.I649I GBMLGG 1 1563750 1563750 + Missense_Mutation SNP C C T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 g.chr1:1563750C>T c.2113C>T c.(2113-2115)Cgc>Tgc p.R705C GBMLGG 1 1564066 1564067 + Frame_Shift_Ins INS - - G TCGA-S9-A7R7-01A-11D-A34J-08 TCGA-S9-A7R7-10A-01D-A34M-08 g.chr1:1564066_1564067insG c.2340_2341insG c.(2341-2343)gggfs p.G781fs HNSC 1 1563210 1563210 + Splice_Site SNP G G A TCGA-UF-A7JF-01A-11D-A34J-08 TCGA-UF-A7JF-10A-01D-A34M-08 g.chr1:1563210G>A c.e13+1 HNSC 1 1565827 1565827 + Missense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 g.chr1:1565827G>A c.2959G>A c.(2959-2961)Gca>Aca p.A987T LGG 1 1558852 1558852 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:1558852C>T c.194C>T c.(193-195)gCg>gTg p.A65V LGG 1 1560486 1560486 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:1560486C>T c.816C>T c.(814-816)ggC>ggT p.G272G LGG 1 1560729 1560729 + Missense_Mutation SNP A A G TCGA-DH-5141-01A-01D-1468-08 TCGA-DH-5141-10A-01D-1468-08 g.chr1:1560729A>G c.959A>G c.(958-960)aAg>aGg p.K320R LGG 1 1563188 1563188 + Silent SNP C C T TCGA-E1-5302-01A-01D-1468-08 TCGA-E1-5302-10A-01D-1468-08 g.chr1:1563188C>T c.1833C>T c.(1831-1833)cgC>cgT p.R611R LGG 1 1563491 1563491 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:1563491C>T c.1947C>T c.(1945-1947)atC>atT p.I649I LGG 1 1564066 1564067 + Frame_Shift_Ins INS - - G TCGA-S9-A7R7-01A-11D-A34J-08 TCGA-S9-A7R7-10A-01D-A34M-08 g.chr1:1564066_1564067insG c.2340_2341insG c.(2341-2343)gggfs p.G781fs LIHC 1 1558785 1558785 + Missense_Mutation SNP C C G TCGA-G3-AAV5-01A-11D-A36X-10 TCGA-G3-AAV5-10A-01D-A370-10 g.chr1:1558785C>G c.127C>G c.(127-129)Ccc>Gcc p.P43A LIHC 1 1560565 1560565 + Splice_Site SNP G G C TCGA-DD-AAVY-01A-11D-A40R-10 TCGA-DD-AAVY-10A-01D-A40U-10 g.chr1:1560565G>C c.895G>C c.(895-897)Ggc>Cgc p.G299R LIHC 1 1561031 1561031 + Nonsense_Mutation SNP A A T TCGA-ED-A7PZ-01A-11D-A33Q-10 TCGA-ED-A7PZ-10A-01D-A33Q-10 g.chr1:1561031A>T c.1144A>T c.(1144-1146)Aag>Tag p.K382* LIHC 1 1562694 1562694 + Missense_Mutation SNP G G T TCGA-DD-AADP-01A-11D-A38X-10 TCGA-DD-AADP-10A-01D-A38X-10 g.chr1:1562694G>T c.1567G>T c.(1567-1569)Ggc>Tgc p.G523C LUAD 1 1558937 1558937 + Silent SNP G G T TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr1:1558937G>T c.279G>T c.(277-279)acG>acT p.T93T LUAD 1 1559062 1559062 + Missense_Mutation SNP A A T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 g.chr1:1559062A>T c.404A>T c.(403-405)tAc>tTc p.Y135F LUAD 1 1559174 1559174 + Missense_Mutation SNP A A T TCGA-44-6775-01A-11D-1855-08 TCGA-44-6775-10A-01D-1855-08 g.chr1:1559174A>T c.442A>T c.(442-444)Atc>Ttc p.I148F LUAD 1 1559245 1559245 + Missense_Mutation SNP C C G TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 g.chr1:1559245C>G c.513C>G c.(511-513)gaC>gaG p.D171E LUAD 1 1560537 1560537 + Silent SNP C C T TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr1:1560537C>T c.867C>T c.(865-867)ttC>ttT p.F289F LUAD 1 1562061 1562061 + Missense_Mutation SNP G G A TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr1:1562061G>A c.1178G>A c.(1177-1179)cGg>cAg p.R393Q LUAD 1 1562683 1562683 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 g.chr1:1562683C>T c.1556C>T c.(1555-1557)aCc>aTc p.T519I LUAD 1 1563074 1563074 + Missense_Mutation SNP G G T TCGA-91-6848-01A-11D-1945-08 TCGA-91-6848-11A-01D-1945-08 g.chr1:1563074G>T c.1719G>T c.(1717-1719)agG>agT p.R573S LUAD 1 1563448 1563448 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr1:1563448G>T c.1904G>T c.(1903-1905)gGa>gTa p.G635V LUAD 1 1563878 1563878 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 g.chr1:1563878G>A c.2152G>A c.(2152-2154)Gac>Aac p.D718N LUAD 1 1563986 1563986 + Missense_Mutation SNP G G C TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr1:1563986G>C c.2260G>C c.(2260-2262)Gcc>Ccc p.A754P LUAD 1 1565032 1565032 + Missense_Mutation SNP G G T TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr1:1565032G>T c.2751G>T c.(2749-2751)agG>agT p.R917S LUAD 1 1565068 1565068 + Silent SNP C C T TCGA-44-3396-01A-01D-1553-08 TCGA-44-3396-10A-01D-1265-08 g.chr1:1565068C>T c.2787C>T c.(2785-2787)agC>agT p.S929S LUAD 1 1565853 1565853 + Silent SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr1:1565853C>G c.2985C>G c.(2983-2985)ctC>ctG p.L995L LUSC 1 1562240 1562240 + Silent SNP G G T TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 g.chr1:1562240G>T c.1275G>T c.(1273-1275)gtG>gtT p.V425V PAAD 1 1560722 1560722 + Missense_Mutation SNP G G A TCGA-2L-AAQA-01A-21D-A38G-08 TCGA-2L-AAQA-11A-11D-A38J-08 g.chr1:1560722G>A c.952G>A c.(952-954)Ggg>Agg p.G318R PCPG 1 1564560 1564560 + Frame_Shift_Del DEL G G - TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 g.chr1:1564560delG c.2424delG c.(2422-2424)gcgfs p.A809fs PRAD 1 1560431 1560431 + Missense_Mutation SNP G G A TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 g.chr1:1560431G>A c.761G>A c.(760-762)cGg>cAg p.R254Q PRAD 1 1562801 1562801 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:1562801G>A c.1674G>A c.(1672-1674)acG>acA p.T558T PRAD 1 1563681 1563681 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:1563681C>T c.2044C>T c.(2044-2046)Cgg>Tgg p.R682W READ 1 1558755 1558796 + Splice_Site DEL CCCTCTGCCCACAGGTCCCGAGCAGCCCGGCCCACCATGGAC CCCTCTGCCCACAGGTCCCGAGCAGCCCGGCCCACCATGGAC - TCGA-CI-6620-01A-11D-1826-10 TCGA-CI-6620-10A-01D-1826-10 g.chr1:1558755_1558796delCCCTCTGCCCACAGGTCCCGAGCAGCCCGGCCCACCATGGAC c.110_138delCCCTCTGCCCACAGGTCCCGAGCAGCCCGGCCCACCATGGAC c.(109-138)accctctgcccacaggtcccgagcagcccg>a p.TLCPQVPSSP37del SKCM 1 1558797 1558797 + Missense_Mutation SNP C C T TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr1:1558797C>T c.139C>T c.(139-141)Ccc>Tcc p.P47S SKCM 1 1558801 1558801 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr1:1558801C>T c.143C>T c.(142-144)tCt>tTt p.S48F SKCM 1 1558805 1558805 + Silent SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr1:1558805C>T c.147C>T c.(145-147)gcC>gcT p.A49A SKCM 1 1559297 1559297 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr1:1559297G>A c.565G>A c.(565-567)Gac>Aac p.D189N SKCM 1 1559299 1559299 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr1:1559299C>T c.567C>T c.(565-567)gaC>gaT p.D189D SKCM 1 1560202 1560202 + Silent SNP C C T TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr1:1560202C>T c.621C>T c.(619-621)ctC>ctT p.L207L SKCM 1 1560431 1560431 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr1:1560431G>A c.761G>A c.(760-762)cGg>cAg p.R254Q SKCM 1 1560564 1560564 + Splice_Site SNP C C T TCGA-EE-A29P-06A-11D-A197-08 TCGA-EE-A29P-10A-01D-A199-08 g.chr1:1560564C>T c.894C>T c.(892-894)ctC>ctT p.L298L SKCM 1 1560740 1560740 + Silent SNP C C T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 g.chr1:1560740C>T c.970C>T c.(970-972)Ctg>Ttg p.L324L SKCM 1 1560757 1560757 + Silent SNP C C T TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 g.chr1:1560757C>T c.987C>T c.(985-987)gtC>gtT p.V329V SKCM 1 1562297 1562297 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:1562297C>T c.1332C>T c.(1330-1332)acC>acT p.T444T SKCM 1 1563124 1563124 + Missense_Mutation SNP G G A TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr1:1563124G>A c.1769G>A c.(1768-1770)aGc>aAc p.S590N SKCM 1 1563483 1563483 + Missense_Mutation SNP C C G TCGA-D9-A6EG-06A-12D-A32N-08 TCGA-D9-A6EG-10A-01D-A32N-08 g.chr1:1563483C>G c.1939C>G c.(1939-1941)Cca>Gca p.P647A SKCM 1 1563761 1563761 + Silent SNP C C G TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr1:1563761C>G c.2124C>G c.(2122-2124)gcC>gcG p.A708A SKCM 1 1563922 1563922 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr1:1563922C>T c.2196C>T c.(2194-2196)ctC>ctT p.L732L SKCM 1 1565078 1565078 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr1:1565078C>T c.2797C>T c.(2797-2799)Cgc>Tgc p.R933C SKCM 1 1565904 1565904 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:1565904C>T c.3036C>T c.(3034-3036)ttC>ttT p.F1012F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 1562304 1562304 single base substitution C T 3_prime_UTR_variant BLCA-CN 1 1562304 1562304 single base substitution C T downstream_gene_variant BLCA-CN 1 1562304 1562304 single base substitution C T exon_variant BLCA-CN 1 1562304 1562304 single base substitution C T missense_variant P262S 784C>T BLCA-CN 1 1562304 1562304 single base substitution C T missense_variant P324S 970C>T BLCA-CN 1 1562304 1562304 single base substitution C T missense_variant P353S 1057C>T BLCA-CN 1 1562304 1562304 single base substitution C T missense_variant P403S 1207C>T BLCA-CN 1 1562304 1562304 single base substitution C T missense_variant P411S 1231C>T BLCA-CN 1 1562304 1562304 single base substitution C T missense_variant P412S 1234C>T BLCA-CN 1 1562304 1562304 single base substitution C T missense_variant P439S 1315C>T BLCA-CN 1 1562304 1562304 single base substitution C T missense_variant P447S 1339C>T BLCA-CN 1 1562304 1562304 single base substitution C T missense_variant P490S 1468C>T BLCA-CN 1 1562304 1562304 single base substitution C T missense_variant P500S 1498C>T BLCA-CN 1 1562304 1562304 single base substitution C T missense_variant P504S 1510C>T BLCA-CN 1 1562304 1562304 single base substitution C T upstream_gene_variant BLCA-CN 1 1562326 1562326 single base substitution G C 3_prime_UTR_variant BLCA-CN 1 1562326 1562326 single base substitution G C downstream_gene_variant BLCA-CN 1 1562326 1562326 single base substitution G C exon_variant BLCA-CN 1 1562326 1562326 single base substitution G C missense_variant R269P 806G>C BLCA-CN 1 1562326 1562326 single base substitution G C missense_variant R331P 992G>C BLCA-CN 1 1562326 1562326 single base substitution G C missense_variant R360P 1079G>C BLCA-CN 1 1562326 1562326 single base substitution G C missense_variant R410P 1229G>C BLCA-CN 1 1562326 1562326 single base substitution G C missense_variant R418P 1253G>C BLCA-CN 1 1562326 1562326 single base substitution G C missense_variant R419P 1256G>C BLCA-CN 1 1562326 1562326 single base substitution G C missense_variant R446P 1337G>C BLCA-CN 1 1562326 1562326 single base substitution G C missense_variant R454P 1361G>C BLCA-CN 1 1562326 1562326 single base substitution G C missense_variant R497P 1490G>C BLCA-CN 1 1562326 1562326 single base substitution G C missense_variant R507P 1520G>C BLCA-CN 1 1562326 1562326 single base substitution G C missense_variant R511P 1532G>C BLCA-CN 1 1562326 1562326 single base substitution G C upstream_gene_variant BLCA-CN 1 1562498 1562498 single base substitution G A 3_prime_UTR_variant BLCA-CN 1 1562498 1562498 single base substitution G A downstream_gene_variant BLCA-CN 1 1562498 1562498 single base substitution G A exon_variant BLCA-CN 1 1562498 1562498 single base substitution G A missense_variant D302N 904G>A BLCA-CN 1 1562498 1562498 single base substitution G A missense_variant D364N 1090G>A BLCA-CN 1 1562498 1562498 single base substitution G A missense_variant D393N 1177G>A BLCA-CN 1 1562498 1562498 single base substitution G A missense_variant D443N 1327G>A BLCA-CN 1 1562498 1562498 single base substitution G A missense_variant D451N 1351G>A BLCA-CN 1 1562498 1562498 single base substitution G A missense_variant D452N 1354G>A BLCA-CN 1 1562498 1562498 single base substitution G A missense_variant D479N 1435G>A BLCA-CN 1 1562498 1562498 single base substitution G A missense_variant D487N 1459G>A BLCA-CN 1 1562498 1562498 single base substitution G A missense_variant D530N 1588G>A BLCA-CN 1 1562498 1562498 single base substitution G A missense_variant D540N 1618G>A BLCA-CN 1 1562498 1562498 single base substitution G A missense_variant D544N 1630G>A BLCA-CN 1 1562498 1562498 single base substitution G A upstream_gene_variant BLCA-CN 1 1562536 1562536 single base substitution G A 3_prime_UTR_variant BLCA-CN 1 1562536 1562536 single base substitution G A downstream_gene_variant BLCA-CN 1 1562536 1562536 single base substitution G A exon_variant BLCA-CN 1 1562536 1562536 single base substitution G A synonymous_variant A314A 942G>A BLCA-CN 1 1562536 1562536 single base substitution G A synonymous_variant A376A 1128G>A BLCA-CN 1 1562536 1562536 single base substitution G A synonymous_variant A405A 1215G>A BLCA-CN 1 1562536 1562536 single base substitution G A synonymous_variant A455A 1365G>A BLCA-CN 1 1562536 1562536 single base substitution G A synonymous_variant A463A 1389G>A BLCA-CN 1 1562536 1562536 single base substitution G A synonymous_variant A464A 1392G>A BLCA-CN 1 1562536 1562536 single base substitution G A synonymous_variant A491A 1473G>A BLCA-CN 1 1562536 1562536 single base substitution G A synonymous_variant A499A 1497G>A BLCA-CN 1 1562536 1562536 single base substitution G A synonymous_variant A542A 1626G>A BLCA-CN 1 1562536 1562536 single base substitution G A synonymous_variant A552A 1656G>A BLCA-CN 1 1562536 1562536 single base substitution G A synonymous_variant A556A 1668G>A BLCA-CN 1 1562536 1562536 single base substitution G A upstream_gene_variant BLCA-CN 1 1569365 1569365 single base substitution C T downstream_gene_variant BLCA-US 1 1551937 1551937 single base substitution C T 5_prime_UTR_variant BLCA-US 1 1551937 1551937 single base substitution C T exon_variant BLCA-US 1 1551937 1551937 single base substitution C T missense_variant S18L 53C>T BLCA-US 1 1551937 1551937 single base substitution C T missense_variant S75L 224C>T BLCA-US 1 1551937 1551937 single base substitution C T upstream_gene_variant BLCA-US 1 1563943 1563943 single base substitution G A 3_prime_UTR_variant BLCA-US 1 1563943 1563943 single base substitution G A downstream_gene_variant BLCA-US 1 1563943 1563943 single base substitution G A exon_variant BLCA-US 1 1563943 1563943 single base substitution G A synonymous_variant V25V 75G>A BLCA-US 1 1563943 1563943 single base substitution G A synonymous_variant V554V 1662G>A BLCA-US 1 1563943 1563943 single base substitution G A synonymous_variant V616V 1848G>A BLCA-US 1 1563943 1563943 single base substitution G A synonymous_variant V645V 1935G>A BLCA-US 1 1563943 1563943 single base substitution G A synonymous_variant V695V 2085G>A BLCA-US 1 1563943 1563943 single base substitution G A synonymous_variant V703V 2109G>A BLCA-US 1 1563943 1563943 single base substitution G A synonymous_variant V704V 2112G>A BLCA-US 1 1563943 1563943 single base substitution G A synonymous_variant V731V 2193G>A BLCA-US 1 1563943 1563943 single base substitution G A synonymous_variant V739V 2217G>A BLCA-US 1 1563943 1563943 single base substitution G A synonymous_variant V782V 2346G>A BLCA-US 1 1563943 1563943 single base substitution G A synonymous_variant V792V 2376G>A BLCA-US 1 1563943 1563943 single base substitution G A synonymous_variant V796V 2388G>A BLCA-US 1 1563943 1563943 single base substitution G A upstream_gene_variant BLCA-US 1 1564037 1564037 single base substitution C G 3_prime_UTR_variant BLCA-US 1 1564037 1564037 single base substitution C G downstream_gene_variant BLCA-US 1 1564037 1564037 single base substitution C G exon_variant BLCA-US 1 1564037 1564037 single base substitution C G missense_variant Q57E 169C>G BLCA-US 1 1564037 1564037 single base substitution C G missense_variant Q586E 1756C>G BLCA-US 1 1564037 1564037 single base substitution C G missense_variant Q648E 1942C>G BLCA-US 1 1564037 1564037 single base substitution C G missense_variant Q677E 2029C>G BLCA-US 1 1564037 1564037 single base substitution C G missense_variant Q727E 2179C>G BLCA-US 1 1564037 1564037 single base substitution C G missense_variant Q735E 2203C>G BLCA-US 1 1564037 1564037 single base substitution C G missense_variant Q736E 2206C>G BLCA-US 1 1564037 1564037 single base substitution C G missense_variant Q763E 2287C>G BLCA-US 1 1564037 1564037 single base substitution C G missense_variant Q771E 2311C>G BLCA-US 1 1564037 1564037 single base substitution C G missense_variant Q814E 2440C>G BLCA-US 1 1564037 1564037 single base substitution C G missense_variant Q824E 2470C>G BLCA-US 1 1564037 1564037 single base substitution C G missense_variant Q828E 2482C>G BLCA-US 1 1564037 1564037 single base substitution C G upstream_gene_variant BRCA-EU 1 1546333 1546333 single base substitution C G upstream_gene_variant BRCA-EU 1 1548917 1548917 single base substitution C G upstream_gene_variant BRCA-EU 1 1549071 1549071 single base substitution C A upstream_gene_variant BRCA-EU 1 1549540 1549540 single base substitution G A upstream_gene_variant BRCA-EU 1 1549780 1549780 single base substitution C A upstream_gene_variant BRCA-EU 1 1555352 1555352 single base substitution G A downstream_gene_variant BRCA-EU 1 1555352 1555352 single base substitution G A intron_variant BRCA-EU 1 1555352 1555352 single base substitution G A upstream_gene_variant BRCA-EU 1 1555719 1555719 single base substitution C T downstream_gene_variant BRCA-EU 1 1555719 1555719 single base substitution C T intron_variant BRCA-EU 1 1555719 1555719 single base substitution C T upstream_gene_variant BRCA-EU 1 1556273 1556273 single base substitution C G downstream_gene_variant BRCA-EU 1 1556273 1556273 single base substitution C G intron_variant BRCA-EU 1 1556273 1556273 single base substitution C G upstream_gene_variant BRCA-EU 1 1557048 1557048 single base substitution A G downstream_gene_variant BRCA-EU 1 1557048 1557048 single base substitution A G intron_variant BRCA-EU 1 1557048 1557048 single base substitution A G upstream_gene_variant BRCA-EU 1 1557163 1557163 single base substitution G A downstream_gene_variant BRCA-EU 1 1557163 1557163 single base substitution G A intron_variant BRCA-EU 1 1557163 1557163 single base substitution G A upstream_gene_variant BRCA-EU 1 1557385 1557385 single base substitution T C downstream_gene_variant BRCA-EU 1 1557385 1557385 single base substitution T C intron_variant BRCA-EU 1 1557385 1557385 single base substitution T C upstream_gene_variant BRCA-EU 1 1558122 1558122 single base substitution C T downstream_gene_variant BRCA-EU 1 1558122 1558122 single base substitution C T intron_variant BRCA-EU 1 1558122 1558122 single base substitution C T upstream_gene_variant BRCA-EU 1 1558596 1558596 single base substitution G C downstream_gene_variant BRCA-EU 1 1558596 1558596 single base substitution G C exon_variant BRCA-EU 1 1558596 1558596 single base substitution G C intron_variant BRCA-EU 1 1558596 1558596 single base substitution G C upstream_gene_variant BRCA-EU 1 1559334 1559334 single base substitution C T downstream_gene_variant BRCA-EU 1 1559334 1559334 single base substitution C T exon_variant BRCA-EU 1 1559334 1559334 single base substitution C T intron_variant BRCA-EU 1 1559334 1559334 single base substitution C T upstream_gene_variant BRCA-EU 1 1560799 1560799 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 1560799 1560799 single base substitution G A downstream_gene_variant BRCA-EU 1 1560799 1560799 single base substitution G A exon_variant BRCA-EU 1 1560799 1560799 single base substitution G A synonymous_variant R193R 579G>A BRCA-EU 1 1560799 1560799 single base substitution G A synonymous_variant R220R 660G>A BRCA-EU 1 1560799 1560799 single base substitution G A synonymous_variant R285R 855G>A BRCA-EU 1 1560799 1560799 single base substitution G A synonymous_variant R299R 897G>A BRCA-EU 1 1560799 1560799 single base substitution G A synonymous_variant R335R 1005G>A BRCA-EU 1 1560799 1560799 single base substitution G A synonymous_variant R343R 1029G>A BRCA-EU 1 1560799 1560799 single base substitution G A synonymous_variant R386R 1158G>A BRCA-EU 1 1560799 1560799 single base substitution G A synonymous_variant R400R 1200G>A BRCA-EU 1 1560799 1560799 single base substitution G A upstream_gene_variant BRCA-EU 1 1562861 1562861 single base substitution C G downstream_gene_variant BRCA-EU 1 1562861 1562861 single base substitution C G exon_variant BRCA-EU 1 1562861 1562861 single base substitution C G intron_variant BRCA-EU 1 1562861 1562861 single base substitution C G upstream_gene_variant BRCA-EU 1 1563989 1563989 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 1563989 1563989 single base substitution G A downstream_gene_variant BRCA-EU 1 1563989 1563989 single base substitution G A exon_variant BRCA-EU 1 1563989 1563989 single base substitution G A missense_variant E41K 121G>A BRCA-EU 1 1563989 1563989 single base substitution G A missense_variant E570K 1708G>A BRCA-EU 1 1563989 1563989 single base substitution G A missense_variant E632K 1894G>A BRCA-EU 1 1563989 1563989 single base substitution G A missense_variant E661K 1981G>A BRCA-EU 1 1563989 1563989 single base substitution G A missense_variant E711K 2131G>A BRCA-EU 1 1563989 1563989 single base substitution G A missense_variant E719K 2155G>A BRCA-EU 1 1563989 1563989 single base substitution G A missense_variant E720K 2158G>A BRCA-EU 1 1563989 1563989 single base substitution G A missense_variant E747K 2239G>A BRCA-EU 1 1563989 1563989 single base substitution G A missense_variant E755K 2263G>A BRCA-EU 1 1563989 1563989 single base substitution G A missense_variant E798K 2392G>A BRCA-EU 1 1563989 1563989 single base substitution G A missense_variant E808K 2422G>A BRCA-EU 1 1563989 1563989 single base substitution G A missense_variant E812K 2434G>A BRCA-EU 1 1563989 1563989 single base substitution G A upstream_gene_variant BRCA-EU 1 1567585 1567585 single base substitution C A downstream_gene_variant BRCA-EU 1 1567630 1567630 single base substitution C T downstream_gene_variant BRCA-FR 1 1567336 1567336 single base substitution C T downstream_gene_variant BRCA-KR 1 1559166 1559166 single base substitution C G downstream_gene_variant BRCA-KR 1 1559166 1559166 single base substitution C G exon_variant BRCA-KR 1 1559166 1559166 single base substitution C G missense_variant P101R 302C>G BRCA-KR 1 1559166 1559166 single base substitution C G missense_variant P145R 434C>G BRCA-KR 1 1559166 1559166 single base substitution C G missense_variant P188R 563C>G BRCA-KR 1 1559166 1559166 single base substitution C G missense_variant P202R 605C>G BRCA-KR 1 1559166 1559166 single base substitution C G missense_variant P87R 260C>G BRCA-KR 1 1559166 1559166 single base substitution C G upstream_gene_variant BRCA-KR 1 1560856 1560856 single base substitution T C downstream_gene_variant BRCA-KR 1 1560856 1560856 single base substitution T C exon_variant BRCA-KR 1 1560856 1560856 single base substitution T C intron_variant BRCA-KR 1 1560856 1560856 single base substitution T C upstream_gene_variant BRCA-KR 1 1560859 1560859 single base substitution G C downstream_gene_variant BRCA-KR 1 1560859 1560859 single base substitution G C exon_variant BRCA-KR 1 1560859 1560859 single base substitution G C intron_variant BRCA-KR 1 1560859 1560859 single base substitution G C upstream_gene_variant BRCA-US 1 1560701 1560701 single base substitution G A 3_prime_UTR_variant BRCA-US 1 1560701 1560701 single base substitution G A downstream_gene_variant BRCA-US 1 1560701 1560701 single base substitution G A exon_variant BRCA-US 1 1560701 1560701 single base substitution G A missense_variant D161N 481G>A BRCA-US 1 1560701 1560701 single base substitution G A missense_variant D188N 562G>A BRCA-US 1 1560701 1560701 single base substitution G A missense_variant D253N 757G>A BRCA-US 1 1560701 1560701 single base substitution G A missense_variant D267N 799G>A BRCA-US 1 1560701 1560701 single base substitution G A missense_variant D303N 907G>A BRCA-US 1 1560701 1560701 single base substitution G A missense_variant D311N 931G>A BRCA-US 1 1560701 1560701 single base substitution G A missense_variant D354N 1060G>A BRCA-US 1 1560701 1560701 single base substitution G A missense_variant D368N 1102G>A BRCA-US 1 1560701 1560701 single base substitution G A upstream_gene_variant BRCA-US 1 1565047 1565047 single base substitution C G 3_prime_UTR_variant BRCA-US 1 1565047 1565047 single base substitution C G downstream_gene_variant BRCA-US 1 1565047 1565047 single base substitution C G exon_variant BRCA-US 1 1565047 1565047 single base substitution C G missense_variant I241M 723C>G BRCA-US 1 1565047 1565047 single base substitution C G missense_variant I737M 2211C>G BRCA-US 1 1565047 1565047 single base substitution C G missense_variant I828M 2484C>G BRCA-US 1 1565047 1565047 single base substitution C G missense_variant I878M 2634C>G BRCA-US 1 1565047 1565047 single base substitution C G missense_variant I886M 2658C>G BRCA-US 1 1565047 1565047 single base substitution C G missense_variant I887M 2661C>G BRCA-US 1 1565047 1565047 single base substitution C G missense_variant I914M 2742C>G BRCA-US 1 1565047 1565047 single base substitution C G missense_variant I922M 2766C>G BRCA-US 1 1565047 1565047 single base substitution C G missense_variant I965M 2895C>G BRCA-US 1 1565047 1565047 single base substitution C G missense_variant I975M 2925C>G BRCA-US 1 1565047 1565047 single base substitution C G missense_variant I979M 2937C>G BRCA-US 1 1565047 1565047 single base substitution C G missense_variant Q739E 2215C>G BTCA-JP 1 1563129 1563129 single base substitution G C 3_prime_UTR_variant BTCA-JP 1 1563129 1563129 single base substitution G C downstream_gene_variant BTCA-JP 1 1563129 1563129 single base substitution G C exon_variant BTCA-JP 1 1563129 1563129 single base substitution G C missense_variant A407P 1219G>C BTCA-JP 1 1563129 1563129 single base substitution G C missense_variant A469P 1405G>C BTCA-JP 1 1563129 1563129 single base substitution G C missense_variant A498P 1492G>C BTCA-JP 1 1563129 1563129 single base substitution G C missense_variant A548P 1642G>C BTCA-JP 1 1563129 1563129 single base substitution G C missense_variant A556P 1666G>C BTCA-JP 1 1563129 1563129 single base substitution G C missense_variant A557P 1669G>C BTCA-JP 1 1563129 1563129 single base substitution G C missense_variant A584P 1750G>C BTCA-JP 1 1563129 1563129 single base substitution G C missense_variant A592P 1774G>C BTCA-JP 1 1563129 1563129 single base substitution G C missense_variant A635P 1903G>C BTCA-JP 1 1563129 1563129 single base substitution G C missense_variant A645P 1933G>C BTCA-JP 1 1563129 1563129 single base substitution G C missense_variant A649P 1945G>C BTCA-JP 1 1563129 1563129 single base substitution G C upstream_gene_variant BTCA-JP 1 1565009 1565009 single base substitution C A downstream_gene_variant BTCA-JP 1 1565009 1565009 single base substitution C A exon_variant BTCA-JP 1 1565009 1565009 single base substitution C A intron_variant BTCA-JP 1 1566066 1566066 insertion of <=200bp - G downstream_gene_variant BTCA-JP 1 1567595 1567595 single base substitution G A downstream_gene_variant CESC-US 1 1551903 1551903 single base substitution G A 5_prime_UTR_variant CESC-US 1 1551903 1551903 single base substitution G A exon_variant CESC-US 1 1551903 1551903 single base substitution G A missense_variant E64K 190G>A CESC-US 1 1551903 1551903 single base substitution G A missense_variant E7K 19G>A CESC-US 1 1551903 1551903 single base substitution G A upstream_gene_variant CLLE-ES 1 1553994 1553994 single base substitution C T downstream_gene_variant CLLE-ES 1 1553994 1553994 single base substitution C T exon_variant CLLE-ES 1 1553994 1553994 single base substitution C T intron_variant CLLE-ES 1 1553994 1553994 single base substitution C T upstream_gene_variant COAD-US 1 1558768 1558768 single base substitution G T downstream_gene_variant COAD-US 1 1558768 1558768 single base substitution G T exon_variant COAD-US 1 1558768 1558768 single base substitution G T intron_variant COAD-US 1 1558768 1558768 single base substitution G T splice_acceptor_variant COAD-US 1 1558768 1558768 single base substitution G T upstream_gene_variant COAD-US 1 1558857 1558857 single base substitution G A downstream_gene_variant COAD-US 1 1558857 1558857 single base substitution G A exon_variant COAD-US 1 1558857 1558857 single base substitution G A missense_variant V110M 328G>A COAD-US 1 1558857 1558857 single base substitution G A missense_variant V124M 370G>A COAD-US 1 1558857 1558857 single base substitution G A missense_variant V23M 67G>A COAD-US 1 1558857 1558857 single base substitution G A missense_variant V67M 199G>A COAD-US 1 1558857 1558857 single base substitution G A missense_variant V9M 25G>A COAD-US 1 1558857 1558857 single base substitution G A upstream_gene_variant COAD-US 1 1559290 1559290 single base substitution C T 3_prime_UTR_variant COAD-US 1 1559290 1559290 single base substitution C T downstream_gene_variant COAD-US 1 1559290 1559290 single base substitution C T exon_variant COAD-US 1 1559290 1559290 single base substitution C T synonymous_variant H128H 384C>T COAD-US 1 1559290 1559290 single base substitution C T synonymous_variant H142H 426C>T COAD-US 1 1559290 1559290 single base substitution C T synonymous_variant H186H 558C>T COAD-US 1 1559290 1559290 single base substitution C T synonymous_variant H229H 687C>T COAD-US 1 1559290 1559290 single base substitution C T synonymous_variant H243H 729C>T COAD-US 1 1559290 1559290 single base substitution C T synonymous_variant H36H 108C>T COAD-US 1 1559290 1559290 single base substitution C T upstream_gene_variant COAD-US 1 1562227 1562227 single base substitution G A 3_prime_UTR_variant COAD-US 1 1562227 1562227 single base substitution G A downstream_gene_variant COAD-US 1 1562227 1562227 single base substitution G A exon_variant COAD-US 1 1562227 1562227 single base substitution G A missense_variant R236H 707G>A COAD-US 1 1562227 1562227 single base substitution G A missense_variant R298H 893G>A COAD-US 1 1562227 1562227 single base substitution G A missense_variant R327H 980G>A COAD-US 1 1562227 1562227 single base substitution G A missense_variant R377H 1130G>A COAD-US 1 1562227 1562227 single base substitution G A missense_variant R385H 1154G>A COAD-US 1 1562227 1562227 single base substitution G A missense_variant R386H 1157G>A COAD-US 1 1562227 1562227 single base substitution G A missense_variant R413H 1238G>A COAD-US 1 1562227 1562227 single base substitution G A missense_variant R421H 1262G>A COAD-US 1 1562227 1562227 single base substitution G A missense_variant R464H 1391G>A COAD-US 1 1562227 1562227 single base substitution G A missense_variant R474H 1421G>A COAD-US 1 1562227 1562227 single base substitution G A missense_variant R478H 1433G>A COAD-US 1 1562227 1562227 single base substitution G A upstream_gene_variant COAD-US 1 1562546 1562546 single base substitution G A 3_prime_UTR_variant COAD-US 1 1562546 1562546 single base substitution G A downstream_gene_variant COAD-US 1 1562546 1562546 single base substitution G A exon_variant COAD-US 1 1562546 1562546 single base substitution G A missense_variant A318T 952G>A COAD-US 1 1562546 1562546 single base substitution G A missense_variant A380T 1138G>A COAD-US 1 1562546 1562546 single base substitution G A missense_variant A409T 1225G>A COAD-US 1 1562546 1562546 single base substitution G A missense_variant A459T 1375G>A COAD-US 1 1562546 1562546 single base substitution G A missense_variant A467T 1399G>A COAD-US 1 1562546 1562546 single base substitution G A missense_variant A468T 1402G>A COAD-US 1 1562546 1562546 single base substitution G A missense_variant A495T 1483G>A COAD-US 1 1562546 1562546 single base substitution G A missense_variant A503T 1507G>A COAD-US 1 1562546 1562546 single base substitution G A missense_variant A546T 1636G>A COAD-US 1 1562546 1562546 single base substitution G A missense_variant A556T 1666G>A COAD-US 1 1562546 1562546 single base substitution G A missense_variant A560T 1678G>A COAD-US 1 1562546 1562546 single base substitution G A upstream_gene_variant COAD-US 1 1563967 1563967 single base substitution C T 3_prime_UTR_variant COAD-US 1 1563967 1563967 single base substitution C T downstream_gene_variant COAD-US 1 1563967 1563967 single base substitution C T exon_variant COAD-US 1 1563967 1563967 single base substitution C T synonymous_variant D33D 99C>T COAD-US 1 1563967 1563967 single base substitution C T synonymous_variant D562D 1686C>T COAD-US 1 1563967 1563967 single base substitution C T synonymous_variant D624D 1872C>T COAD-US 1 1563967 1563967 single base substitution C T synonymous_variant D653D 1959C>T COAD-US 1 1563967 1563967 single base substitution C T synonymous_variant D703D 2109C>T COAD-US 1 1563967 1563967 single base substitution C T synonymous_variant D711D 2133C>T COAD-US 1 1563967 1563967 single base substitution C T synonymous_variant D712D 2136C>T COAD-US 1 1563967 1563967 single base substitution C T synonymous_variant D739D 2217C>T COAD-US 1 1563967 1563967 single base substitution C T synonymous_variant D747D 2241C>T COAD-US 1 1563967 1563967 single base substitution C T synonymous_variant D790D 2370C>T COAD-US 1 1563967 1563967 single base substitution C T synonymous_variant D800D 2400C>T COAD-US 1 1563967 1563967 single base substitution C T synonymous_variant D804D 2412C>T COAD-US 1 1563967 1563967 single base substitution C T upstream_gene_variant COAD-US 1 1563985 1563985 single base substitution C T 3_prime_UTR_variant COAD-US 1 1563985 1563985 single base substitution C T downstream_gene_variant COAD-US 1 1563985 1563985 single base substitution C T exon_variant COAD-US 1 1563985 1563985 single base substitution C T synonymous_variant N39N 117C>T COAD-US 1 1563985 1563985 single base substitution C T synonymous_variant N568N 1704C>T COAD-US 1 1563985 1563985 single base substitution C T synonymous_variant N630N 1890C>T COAD-US 1 1563985 1563985 single base substitution C T synonymous_variant N659N 1977C>T COAD-US 1 1563985 1563985 single base substitution C T synonymous_variant N709N 2127C>T COAD-US 1 1563985 1563985 single base substitution C T synonymous_variant N717N 2151C>T COAD-US 1 1563985 1563985 single base substitution C T synonymous_variant N718N 2154C>T COAD-US 1 1563985 1563985 single base substitution C T synonymous_variant N745N 2235C>T COAD-US 1 1563985 1563985 single base substitution C T synonymous_variant N753N 2259C>T COAD-US 1 1563985 1563985 single base substitution C T synonymous_variant N796N 2388C>T COAD-US 1 1563985 1563985 single base substitution C T synonymous_variant N806N 2418C>T COAD-US 1 1563985 1563985 single base substitution C T synonymous_variant N810N 2430C>T COAD-US 1 1563985 1563985 single base substitution C T upstream_gene_variant COAD-US 1 1564067 1564067 deletion of <=200bp G - 3_prime_UTR_variant COAD-US 1 1564067 1564067 deletion of <=200bp G - downstream_gene_variant COAD-US 1 1564067 1564067 deletion of <=200bp G - exon_variant COAD-US 1 1564067 1564067 deletion of <=200bp G - frameshift_variant G596 COAD-US 1 1564067 1564067 deletion of <=200bp G - frameshift_variant G658 COAD-US 1 1564067 1564067 deletion of <=200bp G - frameshift_variant G67 COAD-US 1 1564067 1564067 deletion of <=200bp G - frameshift_variant G687 COAD-US 1 1564067 1564067 deletion of <=200bp G - frameshift_variant G737 COAD-US 1 1564067 1564067 deletion of <=200bp G - frameshift_variant G745 COAD-US 1 1564067 1564067 deletion of <=200bp G - frameshift_variant G746 COAD-US 1 1564067 1564067 deletion of <=200bp G - frameshift_variant G773 COAD-US 1 1564067 1564067 deletion of <=200bp G - frameshift_variant G781 COAD-US 1 1564067 1564067 deletion of <=200bp G - frameshift_variant G824 COAD-US 1 1564067 1564067 deletion of <=200bp G - frameshift_variant G834 COAD-US 1 1564067 1564067 deletion of <=200bp G - frameshift_variant G838 COAD-US 1 1564067 1564067 deletion of <=200bp G - upstream_gene_variant COAD-US 1 1564900 1564900 single base substitution G A 3_prime_UTR_variant COAD-US 1 1564900 1564900 single base substitution G A downstream_gene_variant COAD-US 1 1564900 1564900 single base substitution G A exon_variant COAD-US 1 1564900 1564900 single base substitution G A intron_variant COAD-US 1 1564900 1564900 single base substitution G A synonymous_variant A216A 648G>A COAD-US 1 1564900 1564900 single base substitution G A synonymous_variant A712A 2136G>A COAD-US 1 1564900 1564900 single base substitution G A synonymous_variant A803A 2409G>A COAD-US 1 1564900 1564900 single base substitution G A synonymous_variant A853A 2559G>A COAD-US 1 1564900 1564900 single base substitution G A synonymous_variant A861A 2583G>A COAD-US 1 1564900 1564900 single base substitution G A synonymous_variant A862A 2586G>A COAD-US 1 1564900 1564900 single base substitution G A synonymous_variant A889A 2667G>A COAD-US 1 1564900 1564900 single base substitution G A synonymous_variant A897A 2691G>A COAD-US 1 1564900 1564900 single base substitution G A synonymous_variant A940A 2820G>A COAD-US 1 1564900 1564900 single base substitution G A synonymous_variant A950A 2850G>A COAD-US 1 1564900 1564900 single base substitution G A synonymous_variant A954A 2862G>A COAD-US 1 1565079 1565079 single base substitution G A 3_prime_UTR_variant COAD-US 1 1565079 1565079 single base substitution G A downstream_gene_variant COAD-US 1 1565079 1565079 single base substitution G A exon_variant COAD-US 1 1565079 1565079 single base substitution G A missense_variant R252H 755G>A COAD-US 1 1565079 1565079 single base substitution G A missense_variant R748H 2243G>A COAD-US 1 1565079 1565079 single base substitution G A missense_variant R839H 2516G>A COAD-US 1 1565079 1565079 single base substitution G A missense_variant R889H 2666G>A COAD-US 1 1565079 1565079 single base substitution G A missense_variant R897H 2690G>A COAD-US 1 1565079 1565079 single base substitution G A missense_variant R898H 2693G>A COAD-US 1 1565079 1565079 single base substitution G A missense_variant R925H 2774G>A COAD-US 1 1565079 1565079 single base substitution G A missense_variant R933H 2798G>A COAD-US 1 1565079 1565079 single base substitution G A missense_variant R976H 2927G>A COAD-US 1 1565079 1565079 single base substitution G A missense_variant R986H 2957G>A COAD-US 1 1565079 1565079 single base substitution G A missense_variant R990H 2969G>A COAD-US 1 1565079 1565079 single base substitution G A synonymous_variant A749A 2247G>A COCA-CN 1 1549750 1549750 single base substitution C A upstream_gene_variant COCA-CN 1 1552574 1552574 single base substitution G A exon_variant COCA-CN 1 1552574 1552574 single base substitution G A intron_variant COCA-CN 1 1552574 1552574 single base substitution G A upstream_gene_variant COCA-CN 1 1560250 1560250 single base substitution A G 3_prime_UTR_variant COCA-CN 1 1560250 1560250 single base substitution A G downstream_gene_variant COCA-CN 1 1560250 1560250 single base substitution A G exon_variant COCA-CN 1 1560250 1560250 single base substitution A G synonymous_variant R165R 495A>G COCA-CN 1 1560250 1560250 single base substitution A G synonymous_variant R179R 537A>G COCA-CN 1 1560250 1560250 single base substitution A G synonymous_variant R223R 669A>G COCA-CN 1 1560250 1560250 single base substitution A G synonymous_variant R266R 798A>G COCA-CN 1 1560250 1560250 single base substitution A G synonymous_variant R280R 840A>G COCA-CN 1 1560250 1560250 single base substitution A G synonymous_variant R73R 219A>G COCA-CN 1 1560250 1560250 single base substitution A G upstream_gene_variant COCA-CN 1 1563680 1563680 single base substitution G A 3_prime_UTR_variant COCA-CN 1 1563680 1563680 single base substitution G A downstream_gene_variant COCA-CN 1 1563680 1563680 single base substitution G A exon_variant COCA-CN 1 1563680 1563680 single base substitution G A synonymous_variant A496A 1488G>A COCA-CN 1 1563680 1563680 single base substitution G A synonymous_variant A558A 1674G>A COCA-CN 1 1563680 1563680 single base substitution G A synonymous_variant A587A 1761G>A COCA-CN 1 1563680 1563680 single base substitution G A synonymous_variant A637A 1911G>A COCA-CN 1 1563680 1563680 single base substitution G A synonymous_variant A645A 1935G>A COCA-CN 1 1563680 1563680 single base substitution G A synonymous_variant A646A 1938G>A COCA-CN 1 1563680 1563680 single base substitution G A synonymous_variant A673A 2019G>A COCA-CN 1 1563680 1563680 single base substitution G A synonymous_variant A681A 2043G>A COCA-CN 1 1563680 1563680 single base substitution G A synonymous_variant A724A 2172G>A COCA-CN 1 1563680 1563680 single base substitution G A synonymous_variant A734A 2202G>A COCA-CN 1 1563680 1563680 single base substitution G A synonymous_variant A738A 2214G>A COCA-CN 1 1563680 1563680 single base substitution G A upstream_gene_variant COCA-CN 1 1563955 1563955 single base substitution G A 3_prime_UTR_variant COCA-CN 1 1563955 1563955 single base substitution G A downstream_gene_variant COCA-CN 1 1563955 1563955 single base substitution G A exon_variant COCA-CN 1 1563955 1563955 single base substitution G A synonymous_variant P29P 87G>A COCA-CN 1 1563955 1563955 single base substitution G A synonymous_variant P558P 1674G>A COCA-CN 1 1563955 1563955 single base substitution G A synonymous_variant P620P 1860G>A COCA-CN 1 1563955 1563955 single base substitution G A synonymous_variant P649P 1947G>A COCA-CN 1 1563955 1563955 single base substitution G A synonymous_variant P699P 2097G>A COCA-CN 1 1563955 1563955 single base substitution G A synonymous_variant P707P 2121G>A COCA-CN 1 1563955 1563955 single base substitution G A synonymous_variant P708P 2124G>A COCA-CN 1 1563955 1563955 single base substitution G A synonymous_variant P735P 2205G>A COCA-CN 1 1563955 1563955 single base substitution G A synonymous_variant P743P 2229G>A COCA-CN 1 1563955 1563955 single base substitution G A synonymous_variant P786P 2358G>A COCA-CN 1 1563955 1563955 single base substitution G A synonymous_variant P796P 2388G>A COCA-CN 1 1563955 1563955 single base substitution G A synonymous_variant P800P 2400G>A COCA-CN 1 1563955 1563955 single base substitution G A upstream_gene_variant COCA-CN 1 1565014 1565014 single base substitution C T downstream_gene_variant COCA-CN 1 1565014 1565014 single base substitution C T exon_variant COCA-CN 1 1565014 1565014 single base substitution C T splice_region_variant COCA-CN 1 1566007 1566007 single base substitution G A downstream_gene_variant COCA-CN 1 1566065 1566065 single base substitution A G downstream_gene_variant COCA-CN 1 1567842 1567842 single base substitution C A downstream_gene_variant ESAD-UK 1 1546454 1546454 single base substitution A T upstream_gene_variant ESAD-UK 1 1547415 1547415 single base substitution A T upstream_gene_variant ESAD-UK 1 1547500 1547500 single base substitution C T upstream_gene_variant ESAD-UK 1 1547731 1547731 single base substitution G A upstream_gene_variant ESAD-UK 1 1549588 1549588 single base substitution C T upstream_gene_variant ESAD-UK 1 1554525 1554525 single base substitution G A downstream_gene_variant ESAD-UK 1 1554525 1554525 single base substitution G A exon_variant ESAD-UK 1 1554525 1554525 single base substitution G A intron_variant ESAD-UK 1 1554525 1554525 single base substitution G A upstream_gene_variant ESAD-UK 1 1554671 1554671 single base substitution C T downstream_gene_variant ESAD-UK 1 1554671 1554671 single base substitution C T intron_variant ESAD-UK 1 1554671 1554671 single base substitution C T upstream_gene_variant ESAD-UK 1 1554994 1554994 single base substitution G A downstream_gene_variant ESAD-UK 1 1554994 1554994 single base substitution G A intron_variant ESAD-UK 1 1554994 1554994 single base substitution G A upstream_gene_variant ESAD-UK 1 1555927 1555927 single base substitution C T downstream_gene_variant ESAD-UK 1 1555927 1555927 single base substitution C T intron_variant ESAD-UK 1 1555927 1555927 single base substitution C T upstream_gene_variant ESAD-UK 1 1559903 1559903 single base substitution G A downstream_gene_variant ESAD-UK 1 1559903 1559903 single base substitution G A intron_variant ESAD-UK 1 1559903 1559903 single base substitution G A upstream_gene_variant ESAD-UK 1 1559974 1559974 single base substitution G C downstream_gene_variant ESAD-UK 1 1559974 1559974 single base substitution G C intron_variant ESAD-UK 1 1559974 1559974 single base substitution G C upstream_gene_variant ESAD-UK 1 1560072 1560072 single base substitution G A downstream_gene_variant ESAD-UK 1 1560072 1560072 single base substitution G A intron_variant ESAD-UK 1 1560072 1560072 single base substitution G A upstream_gene_variant ESAD-UK 1 1560238 1560238 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 1560238 1560238 single base substitution G A downstream_gene_variant ESAD-UK 1 1560238 1560238 single base substitution G A exon_variant ESAD-UK 1 1560238 1560238 single base substitution G A synonymous_variant A161A 483G>A ESAD-UK 1 1560238 1560238 single base substitution G A synonymous_variant A175A 525G>A ESAD-UK 1 1560238 1560238 single base substitution G A synonymous_variant A219A 657G>A ESAD-UK 1 1560238 1560238 single base substitution G A synonymous_variant A262A 786G>A ESAD-UK 1 1560238 1560238 single base substitution G A synonymous_variant A276A 828G>A ESAD-UK 1 1560238 1560238 single base substitution G A synonymous_variant A69A 207G>A ESAD-UK 1 1560238 1560238 single base substitution G A upstream_gene_variant ESAD-UK 1 1560444 1560444 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 1560444 1560444 single base substitution C T downstream_gene_variant ESAD-UK 1 1560444 1560444 single base substitution C T exon_variant ESAD-UK 1 1560444 1560444 single base substitution C T intron_variant ESAD-UK 1 1560444 1560444 single base substitution C T synonymous_variant S108S 324C>T ESAD-UK 1 1560444 1560444 single base substitution C T synonymous_variant S200S 600C>T ESAD-UK 1 1560444 1560444 single base substitution C T synonymous_variant S214S 642C>T ESAD-UK 1 1560444 1560444 single base substitution C T synonymous_variant S258S 774C>T ESAD-UK 1 1560444 1560444 single base substitution C T synonymous_variant S301S 903C>T ESAD-UK 1 1560444 1560444 single base substitution C T synonymous_variant S315S 945C>T ESAD-UK 1 1560444 1560444 single base substitution C T upstream_gene_variant ESAD-UK 1 1563476 1563476 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 1563476 1563476 single base substitution G A downstream_gene_variant ESAD-UK 1 1563476 1563476 single base substitution G A exon_variant ESAD-UK 1 1563476 1563476 single base substitution G A synonymous_variant T459T 1377G>A ESAD-UK 1 1563476 1563476 single base substitution G A synonymous_variant T521T 1563G>A ESAD-UK 1 1563476 1563476 single base substitution G A synonymous_variant T550T 1650G>A ESAD-UK 1 1563476 1563476 single base substitution G A synonymous_variant T600T 1800G>A ESAD-UK 1 1563476 1563476 single base substitution G A synonymous_variant T608T 1824G>A ESAD-UK 1 1563476 1563476 single base substitution G A synonymous_variant T609T 1827G>A ESAD-UK 1 1563476 1563476 single base substitution G A synonymous_variant T636T 1908G>A ESAD-UK 1 1563476 1563476 single base substitution G A synonymous_variant T644T 1932G>A ESAD-UK 1 1563476 1563476 single base substitution G A synonymous_variant T687T 2061G>A ESAD-UK 1 1563476 1563476 single base substitution G A synonymous_variant T697T 2091G>A ESAD-UK 1 1563476 1563476 single base substitution G A synonymous_variant T701T 2103G>A ESAD-UK 1 1563476 1563476 single base substitution G A upstream_gene_variant ESAD-UK 1 1565697 1565697 single base substitution C A 3_prime_UTR_variant ESAD-UK 1 1565697 1565697 single base substitution C A downstream_gene_variant ESAD-UK 1 1565697 1565697 single base substitution C A exon_variant ESAD-UK 1 1565697 1565697 single base substitution C A synonymous_variant A1000A 3000C>A ESAD-UK 1 1565697 1565697 single base substitution C A synonymous_variant A262A 786C>A ESAD-UK 1 1565697 1565697 single base substitution C A synonymous_variant A758A 2274C>A ESAD-UK 1 1565697 1565697 single base substitution C A synonymous_variant A849A 2547C>A ESAD-UK 1 1565697 1565697 single base substitution C A synonymous_variant A899A 2697C>A ESAD-UK 1 1565697 1565697 single base substitution C A synonymous_variant A907A 2721C>A ESAD-UK 1 1565697 1565697 single base substitution C A synonymous_variant A908A 2724C>A ESAD-UK 1 1565697 1565697 single base substitution C A synonymous_variant A935A 2805C>A ESAD-UK 1 1565697 1565697 single base substitution C A synonymous_variant A943A 2829C>A ESAD-UK 1 1565697 1565697 single base substitution C A synonymous_variant A986A 2958C>A ESAD-UK 1 1565697 1565697 single base substitution C A synonymous_variant A996A 2988C>A ESAD-UK 1 1566936 1566936 single base substitution C T downstream_gene_variant GBM-US 1 1563429 1563429 single base substitution G A 3_prime_UTR_variant GBM-US 1 1563429 1563429 single base substitution G A downstream_gene_variant GBM-US 1 1563429 1563429 single base substitution G A exon_variant GBM-US 1 1563429 1563429 single base substitution G A missense_variant A444T 1330G>A GBM-US 1 1563429 1563429 single base substitution G A missense_variant A506T 1516G>A GBM-US 1 1563429 1563429 single base substitution G A missense_variant A535T 1603G>A GBM-US 1 1563429 1563429 single base substitution G A missense_variant A585T 1753G>A GBM-US 1 1563429 1563429 single base substitution G A missense_variant A593T 1777G>A GBM-US 1 1563429 1563429 single base substitution G A missense_variant A594T 1780G>A GBM-US 1 1563429 1563429 single base substitution G A missense_variant A621T 1861G>A GBM-US 1 1563429 1563429 single base substitution G A missense_variant A629T 1885G>A GBM-US 1 1563429 1563429 single base substitution G A missense_variant A672T 2014G>A GBM-US 1 1563429 1563429 single base substitution G A missense_variant A682T 2044G>A GBM-US 1 1563429 1563429 single base substitution G A missense_variant A686T 2056G>A GBM-US 1 1563429 1563429 single base substitution G A upstream_gene_variant GBM-US 1 1563750 1563750 single base substitution C T 3_prime_UTR_variant GBM-US 1 1563750 1563750 single base substitution C T downstream_gene_variant GBM-US 1 1563750 1563750 single base substitution C T exon_variant GBM-US 1 1563750 1563750 single base substitution C T missense_variant R520C 1558C>T GBM-US 1 1563750 1563750 single base substitution C T missense_variant R582C 1744C>T GBM-US 1 1563750 1563750 single base substitution C T missense_variant R611C 1831C>T GBM-US 1 1563750 1563750 single base substitution C T missense_variant R661C 1981C>T GBM-US 1 1563750 1563750 single base substitution C T missense_variant R669C 2005C>T GBM-US 1 1563750 1563750 single base substitution C T missense_variant R670C 2008C>T GBM-US 1 1563750 1563750 single base substitution C T missense_variant R697C 2089C>T GBM-US 1 1563750 1563750 single base substitution C T missense_variant R705C 2113C>T GBM-US 1 1563750 1563750 single base substitution C T missense_variant R748C 2242C>T GBM-US 1 1563750 1563750 single base substitution C T missense_variant R758C 2272C>T GBM-US 1 1563750 1563750 single base substitution C T missense_variant R762C 2284C>T GBM-US 1 1563750 1563750 single base substitution C T upstream_gene_variant LAML-KR 1 1569365 1569365 single base substitution C T downstream_gene_variant LAML-KR 1 1569529 1569529 single base substitution A G downstream_gene_variant LAML-KR 1 1570660 1570660 single base substitution T C downstream_gene_variant LGG-US 1 1560729 1560729 single base substitution A G 3_prime_UTR_variant LGG-US 1 1560729 1560729 single base substitution A G downstream_gene_variant LGG-US 1 1560729 1560729 single base substitution A G exon_variant LGG-US 1 1560729 1560729 single base substitution A G missense_variant K170R 509A>G LGG-US 1 1560729 1560729 single base substitution A G missense_variant K197R 590A>G LGG-US 1 1560729 1560729 single base substitution A G missense_variant K262R 785A>G LGG-US 1 1560729 1560729 single base substitution A G missense_variant K276R 827A>G LGG-US 1 1560729 1560729 single base substitution A G missense_variant K312R 935A>G LGG-US 1 1560729 1560729 single base substitution A G missense_variant K320R 959A>G LGG-US 1 1560729 1560729 single base substitution A G missense_variant K363R 1088A>G LGG-US 1 1560729 1560729 single base substitution A G missense_variant K377R 1130A>G LGG-US 1 1560729 1560729 single base substitution A G upstream_gene_variant LGG-US 1 1563188 1563188 single base substitution C T 3_prime_UTR_variant LGG-US 1 1563188 1563188 single base substitution C T downstream_gene_variant LGG-US 1 1563188 1563188 single base substitution C T exon_variant LGG-US 1 1563188 1563188 single base substitution C T synonymous_variant R426R 1278C>T LGG-US 1 1563188 1563188 single base substitution C T synonymous_variant R488R 1464C>T LGG-US 1 1563188 1563188 single base substitution C T synonymous_variant R517R 1551C>T LGG-US 1 1563188 1563188 single base substitution C T synonymous_variant R567R 1701C>T LGG-US 1 1563188 1563188 single base substitution C T synonymous_variant R575R 1725C>T LGG-US 1 1563188 1563188 single base substitution C T synonymous_variant R576R 1728C>T LGG-US 1 1563188 1563188 single base substitution C T synonymous_variant R603R 1809C>T LGG-US 1 1563188 1563188 single base substitution C T synonymous_variant R611R 1833C>T LGG-US 1 1563188 1563188 single base substitution C T synonymous_variant R654R 1962C>T LGG-US 1 1563188 1563188 single base substitution C T synonymous_variant R664R 1992C>T LGG-US 1 1563188 1563188 single base substitution C T synonymous_variant R668R 2004C>T LGG-US 1 1563188 1563188 single base substitution C T upstream_gene_variant LICA-CN 1 1560780 1560780 single base substitution A T 3_prime_UTR_variant LICA-CN 1 1560780 1560780 single base substitution A T downstream_gene_variant LICA-CN 1 1560780 1560780 single base substitution A T exon_variant LICA-CN 1 1560780 1560780 single base substitution A T missense_variant H187L 560A>T LICA-CN 1 1560780 1560780 single base substitution A T missense_variant H214L 641A>T LICA-CN 1 1560780 1560780 single base substitution A T missense_variant H279L 836A>T LICA-CN 1 1560780 1560780 single base substitution A T missense_variant H293L 878A>T LICA-CN 1 1560780 1560780 single base substitution A T missense_variant H329L 986A>T LICA-CN 1 1560780 1560780 single base substitution A T missense_variant H337L 1010A>T LICA-CN 1 1560780 1560780 single base substitution A T missense_variant H380L 1139A>T LICA-CN 1 1560780 1560780 single base substitution A T missense_variant H394L 1181A>T LICA-CN 1 1560780 1560780 single base substitution A T upstream_gene_variant LICA-FR 1 1547067 1547067 single base substitution T A upstream_gene_variant LICA-FR 1 1548248 1548248 insertion of <=200bp - T upstream_gene_variant LICA-FR 1 1548541 1548541 deletion of <=200bp T - upstream_gene_variant LICA-FR 1 1563210 1563210 single base substitution G T downstream_gene_variant LICA-FR 1 1563210 1563210 single base substitution G T exon_variant LICA-FR 1 1563210 1563210 single base substitution G T splice_donor_variant LICA-FR 1 1563210 1563210 single base substitution G T upstream_gene_variant LICA-FR 1 1563722 1563722 single base substitution G A 3_prime_UTR_variant LICA-FR 1 1563722 1563722 single base substitution G A downstream_gene_variant LICA-FR 1 1563722 1563722 single base substitution G A exon_variant LICA-FR 1 1563722 1563722 single base substitution G A synonymous_variant A510A 1530G>A LICA-FR 1 1563722 1563722 single base substitution G A synonymous_variant A572A 1716G>A LICA-FR 1 1563722 1563722 single base substitution G A synonymous_variant A601A 1803G>A LICA-FR 1 1563722 1563722 single base substitution G A synonymous_variant A651A 1953G>A LICA-FR 1 1563722 1563722 single base substitution G A synonymous_variant A659A 1977G>A LICA-FR 1 1563722 1563722 single base substitution G A synonymous_variant A660A 1980G>A LICA-FR 1 1563722 1563722 single base substitution G A synonymous_variant A687A 2061G>A LICA-FR 1 1563722 1563722 single base substitution G A synonymous_variant A695A 2085G>A LICA-FR 1 1563722 1563722 single base substitution G A synonymous_variant A738A 2214G>A LICA-FR 1 1563722 1563722 single base substitution G A synonymous_variant A748A 2244G>A LICA-FR 1 1563722 1563722 single base substitution G A synonymous_variant A752A 2256G>A LICA-FR 1 1563722 1563722 single base substitution G A upstream_gene_variant LIHC-US 1 1561031 1561031 single base substitution A T downstream_gene_variant LIHC-US 1 1561031 1561031 single base substitution A T exon_variant LIHC-US 1 1561031 1561031 single base substitution A T intron_variant LIHC-US 1 1561031 1561031 single base substitution A T splice_region_variant LIHC-US 1 1561031 1561031 single base substitution A T stop_gained K232* 694A>T LIHC-US 1 1561031 1561031 single base substitution A T stop_gained K259* 775A>T LIHC-US 1 1561031 1561031 single base substitution A T stop_gained K338* 1012A>T LIHC-US 1 1561031 1561031 single base substitution A T stop_gained K374* 1120A>T LIHC-US 1 1561031 1561031 single base substitution A T stop_gained K382* 1144A>T LIHC-US 1 1561031 1561031 single base substitution A T stop_gained K425* 1273A>T LIHC-US 1 1561031 1561031 single base substitution A T stop_gained K435* 1303A>T LIHC-US 1 1561031 1561031 single base substitution A T stop_gained K439* 1315A>T LIHC-US 1 1561031 1561031 single base substitution A T upstream_gene_variant LINC-JP 1 1563721 1563721 single base substitution C T 3_prime_UTR_variant LINC-JP 1 1563721 1563721 single base substitution C T downstream_gene_variant LINC-JP 1 1563721 1563721 single base substitution C T exon_variant LINC-JP 1 1563721 1563721 single base substitution C T missense_variant A510V 1529C>T LINC-JP 1 1563721 1563721 single base substitution C T missense_variant A572V 1715C>T LINC-JP 1 1563721 1563721 single base substitution C T missense_variant A601V 1802C>T LINC-JP 1 1563721 1563721 single base substitution C T missense_variant A651V 1952C>T LINC-JP 1 1563721 1563721 single base substitution C T missense_variant A659V 1976C>T LINC-JP 1 1563721 1563721 single base substitution C T missense_variant A660V 1979C>T LINC-JP 1 1563721 1563721 single base substitution C T missense_variant A687V 2060C>T LINC-JP 1 1563721 1563721 single base substitution C T missense_variant A695V 2084C>T LINC-JP 1 1563721 1563721 single base substitution C T missense_variant A738V 2213C>T LINC-JP 1 1563721 1563721 single base substitution C T missense_variant A748V 2243C>T LINC-JP 1 1563721 1563721 single base substitution C T missense_variant A752V 2255C>T LINC-JP 1 1563721 1563721 single base substitution C T upstream_gene_variant LINC-JP 1 1563889 1563889 single base substitution G A 3_prime_UTR_variant LINC-JP 1 1563889 1563889 single base substitution G A downstream_gene_variant LINC-JP 1 1563889 1563889 single base substitution G A exon_variant LINC-JP 1 1563889 1563889 single base substitution G A synonymous_variant V536V 1608G>A LINC-JP 1 1563889 1563889 single base substitution G A synonymous_variant V598V 1794G>A LINC-JP 1 1563889 1563889 single base substitution G A synonymous_variant V627V 1881G>A LINC-JP 1 1563889 1563889 single base substitution G A synonymous_variant V677V 2031G>A LINC-JP 1 1563889 1563889 single base substitution G A synonymous_variant V685V 2055G>A LINC-JP 1 1563889 1563889 single base substitution G A synonymous_variant V686V 2058G>A LINC-JP 1 1563889 1563889 single base substitution G A synonymous_variant V713V 2139G>A LINC-JP 1 1563889 1563889 single base substitution G A synonymous_variant V721V 2163G>A LINC-JP 1 1563889 1563889 single base substitution G A synonymous_variant V764V 2292G>A LINC-JP 1 1563889 1563889 single base substitution G A synonymous_variant V774V 2322G>A LINC-JP 1 1563889 1563889 single base substitution G A synonymous_variant V778V 2334G>A LINC-JP 1 1563889 1563889 single base substitution G A synonymous_variant V7V 21G>A LINC-JP 1 1563889 1563889 single base substitution G A upstream_gene_variant LINC-JP 1 1564706 1564706 single base substitution G T downstream_gene_variant LINC-JP 1 1564706 1564706 single base substitution G T intron_variant LINC-JP 1 1564706 1564706 single base substitution G T upstream_gene_variant LINC-JP 1 1566185 1566185 single base substitution G T downstream_gene_variant LINC-JP 1 1567463 1567463 deletion of <=200bp C - downstream_gene_variant LIRI-JP 1 1546416 1546416 single base substitution A T upstream_gene_variant LIRI-JP 1 1549835 1549835 single base substitution T G upstream_gene_variant LIRI-JP 1 1552286 1552286 single base substitution C A exon_variant LIRI-JP 1 1552286 1552286 single base substitution C A intron_variant LIRI-JP 1 1552286 1552286 single base substitution C A upstream_gene_variant LIRI-JP 1 1553125 1553125 single base substitution T A downstream_gene_variant LIRI-JP 1 1553125 1553125 single base substitution T A exon_variant LIRI-JP 1 1553125 1553125 single base substitution T A intron_variant LUSC-KR 1 1547798 1547798 single base substitution G A upstream_gene_variant LUSC-KR 1 1550601 1550601 single base substitution G C upstream_gene_variant LUSC-KR 1 1550727 1550727 single base substitution G A upstream_gene_variant LUSC-KR 1 1556209 1556209 single base substitution G A downstream_gene_variant LUSC-KR 1 1556209 1556209 single base substitution G A intron_variant LUSC-KR 1 1556209 1556209 single base substitution G A upstream_gene_variant LUSC-KR 1 1561051 1561051 single base substitution C T downstream_gene_variant LUSC-KR 1 1561051 1561051 single base substitution C T exon_variant LUSC-KR 1 1561051 1561051 single base substitution C T intron_variant LUSC-KR 1 1561051 1561051 single base substitution C T upstream_gene_variant LUSC-KR 1 1562368 1562368 single base substitution G A 3_prime_UTR_variant LUSC-KR 1 1562368 1562368 single base substitution G A downstream_gene_variant LUSC-KR 1 1562368 1562368 single base substitution G A exon_variant LUSC-KR 1 1562368 1562368 single base substitution G A missense_variant R283Q 848G>A LUSC-KR 1 1562368 1562368 single base substitution G A missense_variant R345Q 1034G>A LUSC-KR 1 1562368 1562368 single base substitution G A missense_variant R374Q 1121G>A LUSC-KR 1 1562368 1562368 single base substitution G A missense_variant R424Q 1271G>A LUSC-KR 1 1562368 1562368 single base substitution G A missense_variant R432Q 1295G>A LUSC-KR 1 1562368 1562368 single base substitution G A missense_variant R433Q 1298G>A LUSC-KR 1 1562368 1562368 single base substitution G A missense_variant R460Q 1379G>A LUSC-KR 1 1562368 1562368 single base substitution G A missense_variant R468Q 1403G>A LUSC-KR 1 1562368 1562368 single base substitution G A missense_variant R511Q 1532G>A LUSC-KR 1 1562368 1562368 single base substitution G A missense_variant R521Q 1562G>A LUSC-KR 1 1562368 1562368 single base substitution G A missense_variant R525Q 1574G>A LUSC-KR 1 1562368 1562368 single base substitution G A upstream_gene_variant LUSC-KR 1 1564645 1564645 single base substitution G A 3_prime_UTR_variant LUSC-KR 1 1564645 1564645 single base substitution G A downstream_gene_variant LUSC-KR 1 1564645 1564645 single base substitution G A exon_variant LUSC-KR 1 1564645 1564645 single base substitution G A missense_variant E156K 466G>A LUSC-KR 1 1564645 1564645 single base substitution G A missense_variant E652K 1954G>A LUSC-KR 1 1564645 1564645 single base substitution G A missense_variant E714K 2140G>A LUSC-KR 1 1564645 1564645 single base substitution G A missense_variant E743K 2227G>A LUSC-KR 1 1564645 1564645 single base substitution G A missense_variant E793K 2377G>A LUSC-KR 1 1564645 1564645 single base substitution G A missense_variant E801K 2401G>A LUSC-KR 1 1564645 1564645 single base substitution G A missense_variant E802K 2404G>A LUSC-KR 1 1564645 1564645 single base substitution G A missense_variant E829K 2485G>A LUSC-KR 1 1564645 1564645 single base substitution G A missense_variant E837K 2509G>A LUSC-KR 1 1564645 1564645 single base substitution G A missense_variant E880K 2638G>A LUSC-KR 1 1564645 1564645 single base substitution G A missense_variant E890K 2668G>A LUSC-KR 1 1564645 1564645 single base substitution G A missense_variant E894K 2680G>A LUSC-KR 1 1564645 1564645 single base substitution G A upstream_gene_variant LUSC-KR 1 1567518 1567518 single base substitution G A downstream_gene_variant LUSC-KR 1 1569365 1569365 single base substitution C T downstream_gene_variant LUSC-KR 1 1569529 1569529 single base substitution A G downstream_gene_variant LUSC-KR 1 1570039 1570039 single base substitution G C downstream_gene_variant LUSC-US 1 1562240 1562240 single base substitution G T 3_prime_UTR_variant LUSC-US 1 1562240 1562240 single base substitution G T downstream_gene_variant LUSC-US 1 1562240 1562240 single base substitution G T exon_variant LUSC-US 1 1562240 1562240 single base substitution G T synonymous_variant V240V 720G>T LUSC-US 1 1562240 1562240 single base substitution G T synonymous_variant V302V 906G>T LUSC-US 1 1562240 1562240 single base substitution G T synonymous_variant V331V 993G>T LUSC-US 1 1562240 1562240 single base substitution G T synonymous_variant V381V 1143G>T LUSC-US 1 1562240 1562240 single base substitution G T synonymous_variant V389V 1167G>T LUSC-US 1 1562240 1562240 single base substitution G T synonymous_variant V390V 1170G>T LUSC-US 1 1562240 1562240 single base substitution G T synonymous_variant V417V 1251G>T LUSC-US 1 1562240 1562240 single base substitution G T synonymous_variant V425V 1275G>T LUSC-US 1 1562240 1562240 single base substitution G T synonymous_variant V468V 1404G>T LUSC-US 1 1562240 1562240 single base substitution G T synonymous_variant V478V 1434G>T LUSC-US 1 1562240 1562240 single base substitution G T synonymous_variant V482V 1446G>T LUSC-US 1 1562240 1562240 single base substitution G T upstream_gene_variant MALY-DE 1 1552080 1552080 single base substitution T G exon_variant MALY-DE 1 1552080 1552080 single base substitution T G intron_variant MALY-DE 1 1552080 1552080 single base substitution T G upstream_gene_variant MALY-DE 1 1558096 1558096 single base substitution T C downstream_gene_variant MALY-DE 1 1558096 1558096 single base substitution T C intron_variant MALY-DE 1 1558096 1558096 single base substitution T C upstream_gene_variant MALY-DE 1 1559215 1559215 single base substitution C T 3_prime_UTR_variant MALY-DE 1 1559215 1559215 single base substitution C T downstream_gene_variant MALY-DE 1 1559215 1559215 single base substitution C T exon_variant MALY-DE 1 1559215 1559215 single base substitution C T synonymous_variant R103R 309C>T MALY-DE 1 1559215 1559215 single base substitution C T synonymous_variant R117R 351C>T MALY-DE 1 1559215 1559215 single base substitution C T synonymous_variant R11R 33C>T MALY-DE 1 1559215 1559215 single base substitution C T synonymous_variant R161R 483C>T MALY-DE 1 1559215 1559215 single base substitution C T synonymous_variant R204R 612C>T MALY-DE 1 1559215 1559215 single base substitution C T synonymous_variant R218R 654C>T MALY-DE 1 1559215 1559215 single base substitution C T upstream_gene_variant MELA-AU 1 1546419 1546419 single base substitution G A upstream_gene_variant MELA-AU 1 1546577 1546577 single base substitution G A upstream_gene_variant MELA-AU 1 1546745 1546745 single base substitution G T upstream_gene_variant MELA-AU 1 1547177 1547177 single base substitution G A upstream_gene_variant MELA-AU 1 1547207 1547207 single base substitution G A upstream_gene_variant MELA-AU 1 1547252 1547252 single base substitution G A upstream_gene_variant MELA-AU 1 1547438 1547438 single base substitution G A upstream_gene_variant MELA-AU 1 1547478 1547478 single base substitution G A upstream_gene_variant MELA-AU 1 1547517 1547517 single base substitution G A upstream_gene_variant MELA-AU 1 1547942 1547942 single base substitution T C upstream_gene_variant MELA-AU 1 1548379 1548379 single base substitution G A upstream_gene_variant MELA-AU 1 1549173 1549173 single base substitution A T upstream_gene_variant MELA-AU 1 1549619 1549619 single base substitution G A upstream_gene_variant MELA-AU 1 1550684 1550684 single base substitution G A upstream_gene_variant MELA-AU 1 1550703 1550703 single base substitution G A upstream_gene_variant MELA-AU 1 1550828 1550829 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 1 1550828 1550829 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 1550829 1550829 single base substitution G A 5_prime_UTR_variant MELA-AU 1 1550829 1550829 single base substitution G A upstream_gene_variant MELA-AU 1 1551029 1551029 single base substitution G A intron_variant MELA-AU 1 1551029 1551029 single base substitution G A upstream_gene_variant MELA-AU 1 1551199 1551199 single base substitution C T intron_variant MELA-AU 1 1551199 1551199 single base substitution C T upstream_gene_variant MELA-AU 1 1553813 1553813 single base substitution C T downstream_gene_variant MELA-AU 1 1553813 1553813 single base substitution C T exon_variant MELA-AU 1 1553813 1553813 single base substitution C T intron_variant MELA-AU 1 1553813 1553813 single base substitution C T upstream_gene_variant MELA-AU 1 1553972 1553972 single base substitution G A downstream_gene_variant MELA-AU 1 1553972 1553972 single base substitution G A exon_variant MELA-AU 1 1553972 1553972 single base substitution G A intron_variant MELA-AU 1 1553972 1553972 single base substitution G A upstream_gene_variant MELA-AU 1 1554054 1554054 single base substitution C T downstream_gene_variant MELA-AU 1 1554054 1554054 single base substitution C T exon_variant MELA-AU 1 1554054 1554054 single base substitution C T intron_variant MELA-AU 1 1554054 1554054 single base substitution C T upstream_gene_variant MELA-AU 1 1554239 1554239 single base substitution G A downstream_gene_variant MELA-AU 1 1554239 1554239 single base substitution G A exon_variant MELA-AU 1 1554239 1554239 single base substitution G A intron_variant MELA-AU 1 1554239 1554239 single base substitution G A upstream_gene_variant MELA-AU 1 1554497 1554497 single base substitution G A downstream_gene_variant MELA-AU 1 1554497 1554497 single base substitution G A exon_variant MELA-AU 1 1554497 1554497 single base substitution G A intron_variant MELA-AU 1 1554497 1554497 single base substitution G A upstream_gene_variant MELA-AU 1 1554549 1554549 single base substitution C T downstream_gene_variant MELA-AU 1 1554549 1554549 single base substitution C T exon_variant MELA-AU 1 1554549 1554549 single base substitution C T intron_variant MELA-AU 1 1554549 1554549 single base substitution C T upstream_gene_variant MELA-AU 1 1555396 1555396 single base substitution C T downstream_gene_variant MELA-AU 1 1555396 1555396 single base substitution C T intron_variant MELA-AU 1 1555396 1555396 single base substitution C T upstream_gene_variant MELA-AU 1 1555454 1555454 single base substitution C T downstream_gene_variant MELA-AU 1 1555454 1555454 single base substitution C T intron_variant MELA-AU 1 1555454 1555454 single base substitution C T upstream_gene_variant MELA-AU 1 1556619 1556619 single base substitution C T downstream_gene_variant MELA-AU 1 1556619 1556619 single base substitution C T intron_variant MELA-AU 1 1556619 1556619 single base substitution C T upstream_gene_variant MELA-AU 1 1556641 1556641 single base substitution G A downstream_gene_variant MELA-AU 1 1556641 1556641 single base substitution G A intron_variant MELA-AU 1 1556641 1556641 single base substitution G A upstream_gene_variant MELA-AU 1 1556734 1556734 single base substitution G A downstream_gene_variant MELA-AU 1 1556734 1556734 single base substitution G A intron_variant MELA-AU 1 1556734 1556734 single base substitution G A upstream_gene_variant MELA-AU 1 1557051 1557051 single base substitution C T downstream_gene_variant MELA-AU 1 1557051 1557051 single base substitution C T intron_variant MELA-AU 1 1557051 1557051 single base substitution C T upstream_gene_variant MELA-AU 1 1557258 1557258 single base substitution C T downstream_gene_variant MELA-AU 1 1557258 1557258 single base substitution C T intron_variant MELA-AU 1 1557258 1557258 single base substitution C T upstream_gene_variant MELA-AU 1 1557488 1557488 single base substitution C T downstream_gene_variant MELA-AU 1 1557488 1557488 single base substitution C T intron_variant MELA-AU 1 1557488 1557488 single base substitution C T upstream_gene_variant MELA-AU 1 1558279 1558279 single base substitution C T downstream_gene_variant MELA-AU 1 1558279 1558279 single base substitution C T intron_variant MELA-AU 1 1558279 1558279 single base substitution C T upstream_gene_variant MELA-AU 1 1558288 1558288 single base substitution C T downstream_gene_variant MELA-AU 1 1558288 1558288 single base substitution C T intron_variant MELA-AU 1 1558288 1558288 single base substitution C T upstream_gene_variant MELA-AU 1 1558309 1558309 single base substitution G A downstream_gene_variant MELA-AU 1 1558309 1558309 single base substitution G A intron_variant MELA-AU 1 1558309 1558309 single base substitution G A upstream_gene_variant MELA-AU 1 1558317 1558317 single base substitution C T downstream_gene_variant MELA-AU 1 1558317 1558317 single base substitution C T intron_variant MELA-AU 1 1558317 1558317 single base substitution C T upstream_gene_variant MELA-AU 1 1558403 1558404 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 1558403 1558404 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 1558403 1558404 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 1558554 1558554 single base substitution C T downstream_gene_variant MELA-AU 1 1558554 1558554 single base substitution C T exon_variant MELA-AU 1 1558554 1558554 single base substitution C T intron_variant MELA-AU 1 1558554 1558554 single base substitution C T upstream_gene_variant MELA-AU 1 1558678 1558678 single base substitution T G downstream_gene_variant MELA-AU 1 1558678 1558678 single base substitution T G exon_variant MELA-AU 1 1558678 1558678 single base substitution T G intron_variant MELA-AU 1 1558678 1558678 single base substitution T G upstream_gene_variant MELA-AU 1 1558717 1558717 single base substitution C T downstream_gene_variant MELA-AU 1 1558717 1558717 single base substitution C T exon_variant MELA-AU 1 1558717 1558717 single base substitution C T intron_variant MELA-AU 1 1558717 1558717 single base substitution C T upstream_gene_variant MELA-AU 1 1560035 1560035 single base substitution C T downstream_gene_variant MELA-AU 1 1560035 1560035 single base substitution C T intron_variant MELA-AU 1 1560035 1560035 single base substitution C T upstream_gene_variant MELA-AU 1 1560203 1560203 single base substitution C T 3_prime_UTR_variant MELA-AU 1 1560203 1560203 single base substitution C T downstream_gene_variant MELA-AU 1 1560203 1560203 single base substitution C T exon_variant MELA-AU 1 1560203 1560203 single base substitution C T missense_variant P150S 448C>T MELA-AU 1 1560203 1560203 single base substitution C T missense_variant P164S 490C>T MELA-AU 1 1560203 1560203 single base substitution C T missense_variant P208S 622C>T MELA-AU 1 1560203 1560203 single base substitution C T missense_variant P251S 751C>T MELA-AU 1 1560203 1560203 single base substitution C T missense_variant P265S 793C>T MELA-AU 1 1560203 1560203 single base substitution C T missense_variant P58S 172C>T MELA-AU 1 1560203 1560203 single base substitution C T upstream_gene_variant MELA-AU 1 1560365 1560365 single base substitution C T downstream_gene_variant MELA-AU 1 1560365 1560365 single base substitution C T exon_variant MELA-AU 1 1560365 1560365 single base substitution C T intron_variant MELA-AU 1 1560365 1560365 single base substitution C T splice_region_variant MELA-AU 1 1560365 1560365 single base substitution C T upstream_gene_variant MELA-AU 1 1560565 1560565 single base substitution G A downstream_gene_variant MELA-AU 1 1560565 1560565 single base substitution G A intron_variant MELA-AU 1 1560565 1560565 single base substitution G A missense_variant G149S 445G>A MELA-AU 1 1560565 1560565 single base substitution G A missense_variant G241S 721G>A MELA-AU 1 1560565 1560565 single base substitution G A missense_variant G255S 763G>A MELA-AU 1 1560565 1560565 single base substitution G A missense_variant G299S 895G>A MELA-AU 1 1560565 1560565 single base substitution G A missense_variant G342S 1024G>A MELA-AU 1 1560565 1560565 single base substitution G A missense_variant G356S 1066G>A MELA-AU 1 1560565 1560565 single base substitution G A splice_region_variant MELA-AU 1 1560565 1560565 single base substitution G A upstream_gene_variant MELA-AU 1 1561390 1561390 single base substitution G C downstream_gene_variant MELA-AU 1 1561390 1561390 single base substitution G C exon_variant MELA-AU 1 1561390 1561390 single base substitution G C intron_variant MELA-AU 1 1561390 1561390 single base substitution G C upstream_gene_variant MELA-AU 1 1561594 1561594 single base substitution G A downstream_gene_variant MELA-AU 1 1561594 1561594 single base substitution G A exon_variant MELA-AU 1 1561594 1561594 single base substitution G A intron_variant MELA-AU 1 1561594 1561594 single base substitution G A upstream_gene_variant MELA-AU 1 1561625 1561625 single base substitution C T downstream_gene_variant MELA-AU 1 1561625 1561625 single base substitution C T exon_variant MELA-AU 1 1561625 1561625 single base substitution C T intron_variant MELA-AU 1 1561625 1561625 single base substitution C T upstream_gene_variant MELA-AU 1 1562038 1562038 single base substitution C T 3_prime_UTR_variant MELA-AU 1 1562038 1562038 single base substitution C T downstream_gene_variant MELA-AU 1 1562038 1562038 single base substitution C T exon_variant MELA-AU 1 1562038 1562038 single base substitution C T intron_variant MELA-AU 1 1562038 1562038 single base substitution C T synonymous_variant S262S 786C>T MELA-AU 1 1562038 1562038 single base substitution C T synonymous_variant S291S 873C>T MELA-AU 1 1562038 1562038 single base substitution C T synonymous_variant S341S 1023C>T MELA-AU 1 1562038 1562038 single base substitution C T synonymous_variant S349S 1047C>T MELA-AU 1 1562038 1562038 single base substitution C T synonymous_variant S377S 1131C>T MELA-AU 1 1562038 1562038 single base substitution C T synonymous_variant S385S 1155C>T MELA-AU 1 1562038 1562038 single base substitution C T synonymous_variant S428S 1284C>T MELA-AU 1 1562038 1562038 single base substitution C T synonymous_variant S438S 1314C>T MELA-AU 1 1562038 1562038 single base substitution C T synonymous_variant S442S 1326C>T MELA-AU 1 1562038 1562038 single base substitution C T upstream_gene_variant MELA-AU 1 1562060 1562060 single base substitution C T 3_prime_UTR_variant MELA-AU 1 1562060 1562060 single base substitution C T downstream_gene_variant MELA-AU 1 1562060 1562060 single base substitution C T exon_variant MELA-AU 1 1562060 1562060 single base substitution C T intron_variant MELA-AU 1 1562060 1562060 single base substitution C T missense_variant R270W 808C>T MELA-AU 1 1562060 1562060 single base substitution C T missense_variant R299W 895C>T MELA-AU 1 1562060 1562060 single base substitution C T missense_variant R349W 1045C>T MELA-AU 1 1562060 1562060 single base substitution C T missense_variant R357W 1069C>T MELA-AU 1 1562060 1562060 single base substitution C T missense_variant R385W 1153C>T MELA-AU 1 1562060 1562060 single base substitution C T missense_variant R393W 1177C>T MELA-AU 1 1562060 1562060 single base substitution C T missense_variant R436W 1306C>T MELA-AU 1 1562060 1562060 single base substitution C T missense_variant R446W 1336C>T MELA-AU 1 1562060 1562060 single base substitution C T missense_variant R450W 1348C>T MELA-AU 1 1562060 1562060 single base substitution C T upstream_gene_variant MELA-AU 1 1562210 1562210 single base substitution C T downstream_gene_variant MELA-AU 1 1562210 1562210 single base substitution C T intron_variant MELA-AU 1 1562210 1562210 single base substitution C T splice_region_variant MELA-AU 1 1562210 1562210 single base substitution C T upstream_gene_variant MELA-AU 1 1562218 1562219 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 1562218 1562219 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant A233V 698CC>TT MELA-AU 1 1562218 1562219 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant A295V 884CC>TT MELA-AU 1 1562218 1562219 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant A324V 971CC>TT MELA-AU 1 1562218 1562219 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant A374V 1121CC>TT MELA-AU 1 1562218 1562219 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant A382V 1145CC>TT MELA-AU 1 1562218 1562219 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant A383V 1148CC>TT MELA-AU 1 1562218 1562219 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant A410V 1229CC>TT MELA-AU 1 1562218 1562219 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant A418V 1253CC>TT MELA-AU 1 1562218 1562219 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant A461V 1382CC>TT MELA-AU 1 1562218 1562219 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant A471V 1412CC>TT MELA-AU 1 1562218 1562219 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant A475V 1424CC>TT MELA-AU 1 1562218 1562219 multiple base substitution (>=2bp and <=200bp) CC TT splice_region_variant MELA-AU 1 1562218 1562219 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 1562337 1562337 single base substitution G A 3_prime_UTR_variant MELA-AU 1 1562337 1562337 single base substitution G A downstream_gene_variant MELA-AU 1 1562337 1562337 single base substitution G A exon_variant MELA-AU 1 1562337 1562337 single base substitution G A missense_variant D273N 817G>A MELA-AU 1 1562337 1562337 single base substitution G A missense_variant D335N 1003G>A MELA-AU 1 1562337 1562337 single base substitution G A missense_variant D364N 1090G>A MELA-AU 1 1562337 1562337 single base substitution G A missense_variant D414N 1240G>A MELA-AU 1 1562337 1562337 single base substitution G A missense_variant D422N 1264G>A MELA-AU 1 1562337 1562337 single base substitution G A missense_variant D423N 1267G>A MELA-AU 1 1562337 1562337 single base substitution G A missense_variant D450N 1348G>A MELA-AU 1 1562337 1562337 single base substitution G A missense_variant D458N 1372G>A MELA-AU 1 1562337 1562337 single base substitution G A missense_variant D501N 1501G>A MELA-AU 1 1562337 1562337 single base substitution G A missense_variant D511N 1531G>A MELA-AU 1 1562337 1562337 single base substitution G A missense_variant D515N 1543G>A MELA-AU 1 1562337 1562337 single base substitution G A upstream_gene_variant MELA-AU 1 1562368 1562368 single base substitution G A 3_prime_UTR_variant MELA-AU 1 1562368 1562368 single base substitution G A downstream_gene_variant MELA-AU 1 1562368 1562368 single base substitution G A exon_variant MELA-AU 1 1562368 1562368 single base substitution G A missense_variant R283Q 848G>A MELA-AU 1 1562368 1562368 single base substitution G A missense_variant R345Q 1034G>A MELA-AU 1 1562368 1562368 single base substitution G A missense_variant R374Q 1121G>A MELA-AU 1 1562368 1562368 single base substitution G A missense_variant R424Q 1271G>A MELA-AU 1 1562368 1562368 single base substitution G A missense_variant R432Q 1295G>A MELA-AU 1 1562368 1562368 single base substitution G A missense_variant R433Q 1298G>A MELA-AU 1 1562368 1562368 single base substitution G A missense_variant R460Q 1379G>A MELA-AU 1 1562368 1562368 single base substitution G A missense_variant R468Q 1403G>A MELA-AU 1 1562368 1562368 single base substitution G A missense_variant R511Q 1532G>A MELA-AU 1 1562368 1562368 single base substitution G A missense_variant R521Q 1562G>A MELA-AU 1 1562368 1562368 single base substitution G A missense_variant R525Q 1574G>A MELA-AU 1 1562368 1562368 single base substitution G A upstream_gene_variant MELA-AU 1 1563428 1563428 single base substitution C T 3_prime_UTR_variant MELA-AU 1 1563428 1563428 single base substitution C T downstream_gene_variant MELA-AU 1 1563428 1563428 single base substitution C T exon_variant MELA-AU 1 1563428 1563428 single base substitution C T synonymous_variant S443S 1329C>T MELA-AU 1 1563428 1563428 single base substitution C T synonymous_variant S505S 1515C>T MELA-AU 1 1563428 1563428 single base substitution C T synonymous_variant S534S 1602C>T MELA-AU 1 1563428 1563428 single base substitution C T synonymous_variant S584S 1752C>T MELA-AU 1 1563428 1563428 single base substitution C T synonymous_variant S592S 1776C>T MELA-AU 1 1563428 1563428 single base substitution C T synonymous_variant S593S 1779C>T MELA-AU 1 1563428 1563428 single base substitution C T synonymous_variant S620S 1860C>T MELA-AU 1 1563428 1563428 single base substitution C T synonymous_variant S628S 1884C>T MELA-AU 1 1563428 1563428 single base substitution C T synonymous_variant S671S 2013C>T MELA-AU 1 1563428 1563428 single base substitution C T synonymous_variant S681S 2043C>T MELA-AU 1 1563428 1563428 single base substitution C T synonymous_variant S685S 2055C>T MELA-AU 1 1563428 1563428 single base substitution C T upstream_gene_variant MELA-AU 1 1563492 1563492 single base substitution G A 3_prime_UTR_variant MELA-AU 1 1563492 1563492 single base substitution G A downstream_gene_variant MELA-AU 1 1563492 1563492 single base substitution G A exon_variant MELA-AU 1 1563492 1563492 single base substitution G A missense_variant D465N 1393G>A MELA-AU 1 1563492 1563492 single base substitution G A missense_variant D527N 1579G>A MELA-AU 1 1563492 1563492 single base substitution G A missense_variant D556N 1666G>A MELA-AU 1 1563492 1563492 single base substitution G A missense_variant D606N 1816G>A MELA-AU 1 1563492 1563492 single base substitution G A missense_variant D614N 1840G>A MELA-AU 1 1563492 1563492 single base substitution G A missense_variant D615N 1843G>A MELA-AU 1 1563492 1563492 single base substitution G A missense_variant D642N 1924G>A MELA-AU 1 1563492 1563492 single base substitution G A missense_variant D650N 1948G>A MELA-AU 1 1563492 1563492 single base substitution G A missense_variant D693N 2077G>A MELA-AU 1 1563492 1563492 single base substitution G A missense_variant D703N 2107G>A MELA-AU 1 1563492 1563492 single base substitution G A missense_variant D707N 2119G>A MELA-AU 1 1563492 1563492 single base substitution G A upstream_gene_variant MELA-AU 1 1563864 1563864 single base substitution C T downstream_gene_variant MELA-AU 1 1563864 1563864 single base substitution C T exon_variant MELA-AU 1 1563864 1563864 single base substitution C T splice_region_variant MELA-AU 1 1563864 1563864 single base substitution C T upstream_gene_variant MELA-AU 1 1564084 1564084 single base substitution C T 3_prime_UTR_variant MELA-AU 1 1564084 1564084 single base substitution C T downstream_gene_variant MELA-AU 1 1564084 1564084 single base substitution C T exon_variant MELA-AU 1 1564084 1564084 single base substitution C T synonymous_variant P601P 1803C>T MELA-AU 1 1564084 1564084 single base substitution C T synonymous_variant P663P 1989C>T MELA-AU 1 1564084 1564084 single base substitution C T synonymous_variant P692P 2076C>T MELA-AU 1 1564084 1564084 single base substitution C T synonymous_variant P72P 216C>T MELA-AU 1 1564084 1564084 single base substitution C T synonymous_variant P742P 2226C>T MELA-AU 1 1564084 1564084 single base substitution C T synonymous_variant P750P 2250C>T MELA-AU 1 1564084 1564084 single base substitution C T synonymous_variant P751P 2253C>T MELA-AU 1 1564084 1564084 single base substitution C T synonymous_variant P778P 2334C>T MELA-AU 1 1564084 1564084 single base substitution C T synonymous_variant P786P 2358C>T MELA-AU 1 1564084 1564084 single base substitution C T synonymous_variant P829P 2487C>T MELA-AU 1 1564084 1564084 single base substitution C T synonymous_variant P839P 2517C>T MELA-AU 1 1564084 1564084 single base substitution C T synonymous_variant P843P 2529C>T MELA-AU 1 1564084 1564084 single base substitution C T upstream_gene_variant MELA-AU 1 1564890 1564890 single base substitution C T 3_prime_UTR_variant MELA-AU 1 1564890 1564890 single base substitution C T downstream_gene_variant MELA-AU 1 1564890 1564890 single base substitution C T exon_variant MELA-AU 1 1564890 1564890 single base substitution C T intron_variant MELA-AU 1 1564890 1564890 single base substitution C T missense_variant S213F 638C>T MELA-AU 1 1564890 1564890 single base substitution C T missense_variant S709F 2126C>T MELA-AU 1 1564890 1564890 single base substitution C T missense_variant S800F 2399C>T MELA-AU 1 1564890 1564890 single base substitution C T missense_variant S850F 2549C>T MELA-AU 1 1564890 1564890 single base substitution C T missense_variant S858F 2573C>T MELA-AU 1 1564890 1564890 single base substitution C T missense_variant S859F 2576C>T MELA-AU 1 1564890 1564890 single base substitution C T missense_variant S886F 2657C>T MELA-AU 1 1564890 1564890 single base substitution C T missense_variant S894F 2681C>T MELA-AU 1 1564890 1564890 single base substitution C T missense_variant S937F 2810C>T MELA-AU 1 1564890 1564890 single base substitution C T missense_variant S947F 2840C>T MELA-AU 1 1564890 1564890 single base substitution C T missense_variant S951F 2852C>T MELA-AU 1 1566496 1566496 single base substitution G C downstream_gene_variant MELA-AU 1 1567267 1567267 single base substitution C T downstream_gene_variant MELA-AU 1 1567353 1567353 single base substitution G A downstream_gene_variant MELA-AU 1 1567428 1567429 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 1567488 1567489 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 1567550 1567550 single base substitution C T downstream_gene_variant MELA-AU 1 1567618 1567619 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 1567820 1567820 single base substitution C T downstream_gene_variant MELA-AU 1 1570031 1570031 single base substitution T C downstream_gene_variant MELA-AU 1 1570124 1570124 single base substitution G A downstream_gene_variant ORCA-IN 1 1560730 1560730 single base substitution G T 3_prime_UTR_variant ORCA-IN 1 1560730 1560730 single base substitution G T downstream_gene_variant ORCA-IN 1 1560730 1560730 single base substitution G T exon_variant ORCA-IN 1 1560730 1560730 single base substitution G T missense_variant K170N 510G>T ORCA-IN 1 1560730 1560730 single base substitution G T missense_variant K197N 591G>T ORCA-IN 1 1560730 1560730 single base substitution G T missense_variant K262N 786G>T ORCA-IN 1 1560730 1560730 single base substitution G T missense_variant K276N 828G>T ORCA-IN 1 1560730 1560730 single base substitution G T missense_variant K312N 936G>T ORCA-IN 1 1560730 1560730 single base substitution G T missense_variant K320N 960G>T ORCA-IN 1 1560730 1560730 single base substitution G T missense_variant K363N 1089G>T ORCA-IN 1 1560730 1560730 single base substitution G T missense_variant K377N 1131G>T ORCA-IN 1 1560730 1560730 single base substitution G T upstream_gene_variant ORCA-IN 1 1560931 1560931 single base substitution C T 3_prime_UTR_variant ORCA-IN 1 1560931 1560931 single base substitution C T downstream_gene_variant ORCA-IN 1 1560931 1560931 single base substitution C T exon_variant ORCA-IN 1 1560931 1560931 single base substitution C T intron_variant ORCA-IN 1 1560931 1560931 single base substitution C T splice_region_variant ORCA-IN 1 1560931 1560931 single base substitution C T synonymous_variant I198I 594C>T ORCA-IN 1 1560931 1560931 single base substitution C T synonymous_variant I225I 675C>T ORCA-IN 1 1560931 1560931 single base substitution C T synonymous_variant I304I 912C>T ORCA-IN 1 1560931 1560931 single base substitution C T synonymous_variant I340I 1020C>T ORCA-IN 1 1560931 1560931 single base substitution C T synonymous_variant I348I 1044C>T ORCA-IN 1 1560931 1560931 single base substitution C T synonymous_variant I391I 1173C>T ORCA-IN 1 1560931 1560931 single base substitution C T synonymous_variant I405I 1215C>T ORCA-IN 1 1560931 1560931 single base substitution C T upstream_gene_variant ORCA-IN 1 1562805 1562805 single base substitution C A 3_prime_UTR_variant ORCA-IN 1 1562805 1562805 single base substitution C A downstream_gene_variant ORCA-IN 1 1562805 1562805 single base substitution C A exon_variant ORCA-IN 1 1562805 1562805 single base substitution C A missense_variant L375M 1123C>A ORCA-IN 1 1562805 1562805 single base substitution C A missense_variant L437M 1309C>A ORCA-IN 1 1562805 1562805 single base substitution C A missense_variant L466M 1396C>A ORCA-IN 1 1562805 1562805 single base substitution C A missense_variant L516M 1546C>A ORCA-IN 1 1562805 1562805 single base substitution C A missense_variant L524M 1570C>A ORCA-IN 1 1562805 1562805 single base substitution C A missense_variant L525M 1573C>A ORCA-IN 1 1562805 1562805 single base substitution C A missense_variant L552M 1654C>A ORCA-IN 1 1562805 1562805 single base substitution C A missense_variant L560M 1678C>A ORCA-IN 1 1562805 1562805 single base substitution C A missense_variant L603M 1807C>A ORCA-IN 1 1562805 1562805 single base substitution C A missense_variant L613M 1837C>A ORCA-IN 1 1562805 1562805 single base substitution C A missense_variant L617M 1849C>A ORCA-IN 1 1562805 1562805 single base substitution C A upstream_gene_variant OV-AU 1 1552631 1552631 single base substitution G T exon_variant OV-AU 1 1552631 1552631 single base substitution G T intron_variant OV-AU 1 1552631 1552631 single base substitution G T upstream_gene_variant OV-AU 1 1556626 1556626 single base substitution G A downstream_gene_variant OV-AU 1 1556626 1556626 single base substitution G A intron_variant OV-AU 1 1556626 1556626 single base substitution G A upstream_gene_variant OV-AU 1 1562562 1562562 single base substitution A G 3_prime_UTR_variant OV-AU 1 1562562 1562562 single base substitution A G downstream_gene_variant OV-AU 1 1562562 1562562 single base substitution A G exon_variant OV-AU 1 1562562 1562562 single base substitution A G missense_variant D323G 968A>G OV-AU 1 1562562 1562562 single base substitution A G missense_variant D385G 1154A>G OV-AU 1 1562562 1562562 single base substitution A G missense_variant D414G 1241A>G OV-AU 1 1562562 1562562 single base substitution A G missense_variant D464G 1391A>G OV-AU 1 1562562 1562562 single base substitution A G missense_variant D472G 1415A>G OV-AU 1 1562562 1562562 single base substitution A G missense_variant D473G 1418A>G OV-AU 1 1562562 1562562 single base substitution A G missense_variant D500G 1499A>G OV-AU 1 1562562 1562562 single base substitution A G missense_variant D508G 1523A>G OV-AU 1 1562562 1562562 single base substitution A G missense_variant D551G 1652A>G OV-AU 1 1562562 1562562 single base substitution A G missense_variant D561G 1682A>G OV-AU 1 1562562 1562562 single base substitution A G missense_variant D565G 1694A>G OV-AU 1 1562562 1562562 single base substitution A G upstream_gene_variant OV-AU 1 1565708 1565708 single base substitution G A 3_prime_UTR_variant OV-AU 1 1565708 1565708 single base substitution G A downstream_gene_variant OV-AU 1 1565708 1565708 single base substitution G A exon_variant OV-AU 1 1565708 1565708 single base substitution G A missense_variant G1000D 2999G>A OV-AU 1 1565708 1565708 single base substitution G A missense_variant G1004D 3011G>A OV-AU 1 1565708 1565708 single base substitution G A missense_variant G266D 797G>A OV-AU 1 1565708 1565708 single base substitution G A missense_variant G762D 2285G>A OV-AU 1 1565708 1565708 single base substitution G A missense_variant G853D 2558G>A OV-AU 1 1565708 1565708 single base substitution G A missense_variant G903D 2708G>A OV-AU 1 1565708 1565708 single base substitution G A missense_variant G911D 2732G>A OV-AU 1 1565708 1565708 single base substitution G A missense_variant G912D 2735G>A OV-AU 1 1565708 1565708 single base substitution G A missense_variant G939D 2816G>A OV-AU 1 1565708 1565708 single base substitution G A missense_variant G947D 2840G>A OV-AU 1 1565708 1565708 single base substitution G A missense_variant G990D 2969G>A PACA-AU 1 1549735 1549735 deletion of <=200bp A - upstream_gene_variant PACA-AU 1 1550581 1550581 single base substitution G C upstream_gene_variant PACA-AU 1 1557567 1557567 single base substitution C T downstream_gene_variant PACA-AU 1 1557567 1557567 single base substitution C T intron_variant PACA-AU 1 1557567 1557567 single base substitution C T upstream_gene_variant PACA-AU 1 1558059 1558059 single base substitution C G downstream_gene_variant PACA-AU 1 1558059 1558059 single base substitution C G intron_variant PACA-AU 1 1558059 1558059 single base substitution C G upstream_gene_variant PACA-AU 1 1558588 1558588 single base substitution C T downstream_gene_variant PACA-AU 1 1558588 1558588 single base substitution C T exon_variant PACA-AU 1 1558588 1558588 single base substitution C T intron_variant PACA-AU 1 1558588 1558588 single base substitution C T upstream_gene_variant PACA-AU 1 1558819 1558819 single base substitution C A 5_prime_UTR_variant PACA-AU 1 1558819 1558819 single base substitution C A downstream_gene_variant PACA-AU 1 1558819 1558819 single base substitution C A exon_variant PACA-AU 1 1558819 1558819 single base substitution C A missense_variant A10E 29C>A PACA-AU 1 1558819 1558819 single base substitution C A missense_variant A111E 332C>A PACA-AU 1 1558819 1558819 single base substitution C A missense_variant A54E 161C>A PACA-AU 1 1558819 1558819 single base substitution C A missense_variant A97E 290C>A PACA-AU 1 1558819 1558819 single base substitution C A upstream_gene_variant PACA-AU 1 1564007 1564007 single base substitution A G 3_prime_UTR_variant PACA-AU 1 1564007 1564007 single base substitution A G downstream_gene_variant PACA-AU 1 1564007 1564007 single base substitution A G exon_variant PACA-AU 1 1564007 1564007 single base substitution A G missense_variant T47A 139A>G PACA-AU 1 1564007 1564007 single base substitution A G missense_variant T576A 1726A>G PACA-AU 1 1564007 1564007 single base substitution A G missense_variant T638A 1912A>G PACA-AU 1 1564007 1564007 single base substitution A G missense_variant T667A 1999A>G PACA-AU 1 1564007 1564007 single base substitution A G missense_variant T717A 2149A>G PACA-AU 1 1564007 1564007 single base substitution A G missense_variant T725A 2173A>G PACA-AU 1 1564007 1564007 single base substitution A G missense_variant T726A 2176A>G PACA-AU 1 1564007 1564007 single base substitution A G missense_variant T753A 2257A>G PACA-AU 1 1564007 1564007 single base substitution A G missense_variant T761A 2281A>G PACA-AU 1 1564007 1564007 single base substitution A G missense_variant T804A 2410A>G PACA-AU 1 1564007 1564007 single base substitution A G missense_variant T814A 2440A>G PACA-AU 1 1564007 1564007 single base substitution A G missense_variant T818A 2452A>G PACA-AU 1 1564007 1564007 single base substitution A G upstream_gene_variant PACA-AU 1 1565680 1565680 single base substitution G T 3_prime_UTR_variant PACA-AU 1 1565680 1565680 single base substitution G T downstream_gene_variant PACA-AU 1 1565680 1565680 single base substitution G T exon_variant PACA-AU 1 1565680 1565680 single base substitution G T stop_gained E257* 769G>T PACA-AU 1 1565680 1565680 single base substitution G T stop_gained E753* 2257G>T PACA-AU 1 1565680 1565680 single base substitution G T stop_gained E844* 2530G>T PACA-AU 1 1565680 1565680 single base substitution G T stop_gained E894* 2680G>T PACA-AU 1 1565680 1565680 single base substitution G T stop_gained E902* 2704G>T PACA-AU 1 1565680 1565680 single base substitution G T stop_gained E903* 2707G>T PACA-AU 1 1565680 1565680 single base substitution G T stop_gained E930* 2788G>T PACA-AU 1 1565680 1565680 single base substitution G T stop_gained E938* 2812G>T PACA-AU 1 1565680 1565680 single base substitution G T stop_gained E981* 2941G>T PACA-AU 1 1565680 1565680 single base substitution G T stop_gained E991* 2971G>T PACA-AU 1 1565680 1565680 single base substitution G T stop_gained E995* 2983G>T PACA-AU 1 1565680 1565680 single base substitution G T stop_lost *754L 2261G>T PACA-CA 1 1548888 1548888 single base substitution A G upstream_gene_variant PACA-CA 1 1551270 1551270 single base substitution G A 5_prime_UTR_variant PACA-CA 1 1551270 1551270 single base substitution G A intron_variant PACA-CA 1 1551270 1551270 single base substitution G A upstream_gene_variant PACA-CA 1 1551876 1551876 single base substitution C T 5_prime_UTR_variant PACA-CA 1 1551876 1551876 single base substitution C T exon_variant PACA-CA 1 1551876 1551876 single base substitution C T intron_variant PACA-CA 1 1551876 1551876 single base substitution C T upstream_gene_variant PACA-CA 1 1555207 1555207 single base substitution A G downstream_gene_variant PACA-CA 1 1555207 1555207 single base substitution A G intron_variant PACA-CA 1 1555207 1555207 single base substitution A G upstream_gene_variant PACA-CA 1 1556037 1556037 single base substitution G A downstream_gene_variant PACA-CA 1 1556037 1556037 single base substitution G A intron_variant PACA-CA 1 1556037 1556037 single base substitution G A upstream_gene_variant PACA-CA 1 1556217 1556217 single base substitution G A downstream_gene_variant PACA-CA 1 1556217 1556217 single base substitution G A intron_variant PACA-CA 1 1556217 1556217 single base substitution G A upstream_gene_variant PACA-CA 1 1556317 1556317 single base substitution G T downstream_gene_variant PACA-CA 1 1556317 1556317 single base substitution G T intron_variant PACA-CA 1 1556317 1556317 single base substitution G T upstream_gene_variant PACA-CA 1 1556788 1556788 single base substitution C T downstream_gene_variant PACA-CA 1 1556788 1556788 single base substitution C T intron_variant PACA-CA 1 1556788 1556788 single base substitution C T upstream_gene_variant PACA-CA 1 1557162 1557162 single base substitution C T downstream_gene_variant PACA-CA 1 1557162 1557162 single base substitution C T intron_variant PACA-CA 1 1557162 1557162 single base substitution C T upstream_gene_variant PACA-CA 1 1561525 1561525 single base substitution C T downstream_gene_variant PACA-CA 1 1561525 1561525 single base substitution C T exon_variant PACA-CA 1 1561525 1561525 single base substitution C T intron_variant PACA-CA 1 1561525 1561525 single base substitution C T upstream_gene_variant PACA-CA 1 1562312 1562312 single base substitution C T 3_prime_UTR_variant PACA-CA 1 1562312 1562312 single base substitution C T downstream_gene_variant PACA-CA 1 1562312 1562312 single base substitution C T exon_variant PACA-CA 1 1562312 1562312 single base substitution C T synonymous_variant C264C 792C>T PACA-CA 1 1562312 1562312 single base substitution C T synonymous_variant C326C 978C>T PACA-CA 1 1562312 1562312 single base substitution C T synonymous_variant C355C 1065C>T PACA-CA 1 1562312 1562312 single base substitution C T synonymous_variant C405C 1215C>T PACA-CA 1 1562312 1562312 single base substitution C T synonymous_variant C413C 1239C>T PACA-CA 1 1562312 1562312 single base substitution C T synonymous_variant C414C 1242C>T PACA-CA 1 1562312 1562312 single base substitution C T synonymous_variant C441C 1323C>T PACA-CA 1 1562312 1562312 single base substitution C T synonymous_variant C449C 1347C>T PACA-CA 1 1562312 1562312 single base substitution C T synonymous_variant C492C 1476C>T PACA-CA 1 1562312 1562312 single base substitution C T synonymous_variant C502C 1506C>T PACA-CA 1 1562312 1562312 single base substitution C T synonymous_variant C506C 1518C>T PACA-CA 1 1562312 1562312 single base substitution C T upstream_gene_variant PACA-CA 1 1564963 1564963 single base substitution G A downstream_gene_variant PACA-CA 1 1564963 1564963 single base substitution G A exon_variant PACA-CA 1 1564963 1564963 single base substitution G A intron_variant PACA-CA 1 1565848 1565848 single base substitution G A 3_prime_UTR_variant PACA-CA 1 1565848 1565848 single base substitution G A downstream_gene_variant PACA-CA 1 1565848 1565848 single base substitution G A exon_variant PACA-CA 1 1565848 1565848 single base substitution G A missense_variant A1037T 3109G>A PACA-CA 1 1565848 1565848 single base substitution G A missense_variant A1047T 3139G>A PACA-CA 1 1565848 1565848 single base substitution G A missense_variant A1051T 3151G>A PACA-CA 1 1565848 1565848 single base substitution G A missense_variant A313T 937G>A PACA-CA 1 1565848 1565848 single base substitution G A missense_variant A809T 2425G>A PACA-CA 1 1565848 1565848 single base substitution G A missense_variant A900T 2698G>A PACA-CA 1 1565848 1565848 single base substitution G A missense_variant A950T 2848G>A PACA-CA 1 1565848 1565848 single base substitution G A missense_variant A958T 2872G>A PACA-CA 1 1565848 1565848 single base substitution G A missense_variant A959T 2875G>A PACA-CA 1 1565848 1565848 single base substitution G A missense_variant A986T 2956G>A PACA-CA 1 1565848 1565848 single base substitution G A missense_variant A994T 2980G>A PAEN-AU 1 1562460 1562460 single base substitution T A 3_prime_UTR_variant PAEN-AU 1 1562460 1562460 single base substitution T A downstream_gene_variant PAEN-AU 1 1562460 1562460 single base substitution T A exon_variant PAEN-AU 1 1562460 1562460 single base substitution T A missense_variant L289Q 866T>A PAEN-AU 1 1562460 1562460 single base substitution T A missense_variant L351Q 1052T>A PAEN-AU 1 1562460 1562460 single base substitution T A missense_variant L380Q 1139T>A PAEN-AU 1 1562460 1562460 single base substitution T A missense_variant L430Q 1289T>A PAEN-AU 1 1562460 1562460 single base substitution T A missense_variant L438Q 1313T>A PAEN-AU 1 1562460 1562460 single base substitution T A missense_variant L439Q 1316T>A PAEN-AU 1 1562460 1562460 single base substitution T A missense_variant L466Q 1397T>A PAEN-AU 1 1562460 1562460 single base substitution T A missense_variant L474Q 1421T>A PAEN-AU 1 1562460 1562460 single base substitution T A missense_variant L517Q 1550T>A PAEN-AU 1 1562460 1562460 single base substitution T A missense_variant L527Q 1580T>A PAEN-AU 1 1562460 1562460 single base substitution T A missense_variant L531Q 1592T>A PAEN-AU 1 1562460 1562460 single base substitution T A upstream_gene_variant PBCA-DE 1 1547395 1547395 single base substitution C T upstream_gene_variant PBCA-DE 1 1552165 1552165 single base substitution G A exon_variant PBCA-DE 1 1552165 1552165 single base substitution G A intron_variant PBCA-DE 1 1552165 1552165 single base substitution G A upstream_gene_variant PBCA-DE 1 1555976 1555976 single base substitution C A downstream_gene_variant PBCA-DE 1 1555976 1555976 single base substitution C A intron_variant PBCA-DE 1 1555976 1555976 single base substitution C A upstream_gene_variant PBCA-DE 1 1562352 1562352 single base substitution G T 3_prime_UTR_variant PBCA-DE 1 1562352 1562352 single base substitution G T downstream_gene_variant PBCA-DE 1 1562352 1562352 single base substitution G T exon_variant PBCA-DE 1 1562352 1562352 single base substitution G T missense_variant V278L 832G>T PBCA-DE 1 1562352 1562352 single base substitution G T missense_variant V340L 1018G>T PBCA-DE 1 1562352 1562352 single base substitution G T missense_variant V369L 1105G>T PBCA-DE 1 1562352 1562352 single base substitution G T missense_variant V419L 1255G>T PBCA-DE 1 1562352 1562352 single base substitution G T missense_variant V427L 1279G>T PBCA-DE 1 1562352 1562352 single base substitution G T missense_variant V428L 1282G>T PBCA-DE 1 1562352 1562352 single base substitution G T missense_variant V455L 1363G>T PBCA-DE 1 1562352 1562352 single base substitution G T missense_variant V463L 1387G>T PBCA-DE 1 1562352 1562352 single base substitution G T missense_variant V506L 1516G>T PBCA-DE 1 1562352 1562352 single base substitution G T missense_variant V516L 1546G>T PBCA-DE 1 1562352 1562352 single base substitution G T missense_variant V520L 1558G>T PBCA-DE 1 1562352 1562352 single base substitution G T upstream_gene_variant PRAD-UK 1 1553320 1553320 single base substitution A G downstream_gene_variant PRAD-UK 1 1553320 1553320 single base substitution A G exon_variant PRAD-UK 1 1553320 1553320 single base substitution A G intron_variant PRAD-US 1 1560431 1560431 single base substitution G A 3_prime_UTR_variant PRAD-US 1 1560431 1560431 single base substitution G A downstream_gene_variant PRAD-US 1 1560431 1560431 single base substitution G A exon_variant PRAD-US 1 1560431 1560431 single base substitution G A intron_variant PRAD-US 1 1560431 1560431 single base substitution G A missense_variant R104Q 311G>A PRAD-US 1 1560431 1560431 single base substitution G A missense_variant R196Q 587G>A PRAD-US 1 1560431 1560431 single base substitution G A missense_variant R210Q 629G>A PRAD-US 1 1560431 1560431 single base substitution G A missense_variant R254Q 761G>A PRAD-US 1 1560431 1560431 single base substitution G A missense_variant R297Q 890G>A PRAD-US 1 1560431 1560431 single base substitution G A missense_variant R311Q 932G>A PRAD-US 1 1560431 1560431 single base substitution G A upstream_gene_variant RECA-EU 1 1555983 1555983 single base substitution C T downstream_gene_variant RECA-EU 1 1555983 1555983 single base substitution C T intron_variant RECA-EU 1 1555983 1555983 single base substitution C T upstream_gene_variant SKCA-BR 1 1546950 1546951 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 1 1547942 1547942 insertion of <=200bp - TC upstream_gene_variant SKCA-BR 1 1548847 1548847 single base substitution A G upstream_gene_variant SKCA-BR 1 1550830 1550830 single base substitution G A 5_prime_UTR_variant SKCA-BR 1 1550830 1550830 single base substitution G A upstream_gene_variant SKCA-BR 1 1550858 1550858 single base substitution C G 5_prime_UTR_variant SKCA-BR 1 1550858 1550858 single base substitution C G exon_variant SKCA-BR 1 1550858 1550858 single base substitution C G missense_variant R7G 19C>G SKCA-BR 1 1550858 1550858 single base substitution C G upstream_gene_variant SKCA-BR 1 1555182 1555182 single base substitution C T downstream_gene_variant SKCA-BR 1 1555182 1555182 single base substitution C T intron_variant SKCA-BR 1 1555182 1555182 single base substitution C T upstream_gene_variant SKCA-BR 1 1556545 1556545 single base substitution C T downstream_gene_variant SKCA-BR 1 1556545 1556545 single base substitution C T intron_variant SKCA-BR 1 1556545 1556545 single base substitution C T upstream_gene_variant SKCA-BR 1 1560026 1560026 single base substitution G A downstream_gene_variant SKCA-BR 1 1560026 1560026 single base substitution G A intron_variant SKCA-BR 1 1560026 1560026 single base substitution G A upstream_gene_variant SKCA-BR 1 1561624 1561624 single base substitution C T downstream_gene_variant SKCA-BR 1 1561624 1561624 single base substitution C T exon_variant SKCA-BR 1 1561624 1561624 single base substitution C T intron_variant SKCA-BR 1 1561624 1561624 single base substitution C T upstream_gene_variant SKCA-BR 1 1564786 1564786 single base substitution C G 3_prime_UTR_variant SKCA-BR 1 1564786 1564786 single base substitution C G downstream_gene_variant SKCA-BR 1 1564786 1564786 single base substitution C G exon_variant SKCA-BR 1 1564786 1564786 single base substitution C G intron_variant SKCA-BR 1 1564786 1564786 single base substitution C G splice_donor_variant SKCA-BR 1 1564786 1564786 single base substitution C G synonymous_variant G178G 534C>G SKCA-BR 1 1564786 1564786 single base substitution C G synonymous_variant G674G 2022C>G SKCA-BR 1 1564786 1564786 single base substitution C G synonymous_variant G765G 2295C>G SKCA-BR 1 1564786 1564786 single base substitution C G synonymous_variant G815G 2445C>G SKCA-BR 1 1564786 1564786 single base substitution C G synonymous_variant G823G 2469C>G SKCA-BR 1 1564786 1564786 single base substitution C G synonymous_variant G824G 2472C>G SKCA-BR 1 1564786 1564786 single base substitution C G synonymous_variant G851G 2553C>G SKCA-BR 1 1564786 1564786 single base substitution C G synonymous_variant G859G 2577C>G SKCA-BR 1 1564786 1564786 single base substitution C G synonymous_variant G902G 2706C>G SKCA-BR 1 1564786 1564786 single base substitution C G synonymous_variant G912G 2736C>G SKCA-BR 1 1564786 1564786 single base substitution C G synonymous_variant G916G 2748C>G SKCA-BR 1 1564786 1564786 single base substitution C G upstream_gene_variant SKCA-BR 1 1564828 1564828 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 1564828 1564828 single base substitution C T downstream_gene_variant SKCA-BR 1 1564828 1564828 single base substitution C T exon_variant SKCA-BR 1 1564828 1564828 single base substitution C T intron_variant SKCA-BR 1 1564828 1564828 single base substitution C T synonymous_variant T192T 576C>T SKCA-BR 1 1564828 1564828 single base substitution C T synonymous_variant T688T 2064C>T SKCA-BR 1 1564828 1564828 single base substitution C T synonymous_variant T779T 2337C>T SKCA-BR 1 1564828 1564828 single base substitution C T synonymous_variant T829T 2487C>T SKCA-BR 1 1564828 1564828 single base substitution C T synonymous_variant T837T 2511C>T SKCA-BR 1 1564828 1564828 single base substitution C T synonymous_variant T838T 2514C>T SKCA-BR 1 1564828 1564828 single base substitution C T synonymous_variant T865T 2595C>T SKCA-BR 1 1564828 1564828 single base substitution C T synonymous_variant T873T 2619C>T SKCA-BR 1 1564828 1564828 single base substitution C T synonymous_variant T916T 2748C>T SKCA-BR 1 1564828 1564828 single base substitution C T synonymous_variant T926T 2778C>T SKCA-BR 1 1564828 1564828 single base substitution C T synonymous_variant T930T 2790C>T SKCA-BR 1 1564828 1564828 single base substitution C T upstream_gene_variant SKCA-BR 1 1566065 1566065 insertion of <=200bp - AG downstream_gene_variant SKCA-BR 1 1566393 1566393 single base substitution T G downstream_gene_variant SKCA-BR 1 1566614 1566614 single base substitution T C downstream_gene_variant SKCA-BR 1 1566620 1566620 single base substitution A C downstream_gene_variant SKCA-BR 1 1567770 1567770 single base substitution A G downstream_gene_variant SKCA-BR 1 1567794 1567794 single base substitution T G downstream_gene_variant SKCM-US 1 1558797 1558797 single base substitution C T downstream_gene_variant SKCM-US 1 1558797 1558797 single base substitution C T exon_variant SKCM-US 1 1558797 1558797 single base substitution C T intron_variant SKCM-US 1 1558797 1558797 single base substitution C T missense_variant P104S 310C>T SKCM-US 1 1558797 1558797 single base substitution C T missense_variant P3S 7C>T SKCM-US 1 1558797 1558797 single base substitution C T missense_variant P47S 139C>T SKCM-US 1 1558797 1558797 single base substitution C T upstream_gene_variant SKCM-US 1 1558801 1558801 single base substitution C T downstream_gene_variant SKCM-US 1 1558801 1558801 single base substitution C T exon_variant SKCM-US 1 1558801 1558801 single base substitution C T intron_variant SKCM-US 1 1558801 1558801 single base substitution C T missense_variant S105F 314C>T SKCM-US 1 1558801 1558801 single base substitution C T missense_variant S48F 143C>T SKCM-US 1 1558801 1558801 single base substitution C T missense_variant S4F 11C>T SKCM-US 1 1558801 1558801 single base substitution C T upstream_gene_variant SKCM-US 1 1558805 1558805 single base substitution C T downstream_gene_variant SKCM-US 1 1558805 1558805 single base substitution C T exon_variant SKCM-US 1 1558805 1558805 single base substitution C T splice_region_variant SKCM-US 1 1558805 1558805 single base substitution C T synonymous_variant A106A 318C>T SKCM-US 1 1558805 1558805 single base substitution C T synonymous_variant A49A 147C>T SKCM-US 1 1558805 1558805 single base substitution C T synonymous_variant A5A 15C>T SKCM-US 1 1558805 1558805 single base substitution C T upstream_gene_variant SKCM-US 1 1559297 1559297 single base substitution G A 3_prime_UTR_variant SKCM-US 1 1559297 1559297 single base substitution G A downstream_gene_variant SKCM-US 1 1559297 1559297 single base substitution G A exon_variant SKCM-US 1 1559297 1559297 single base substitution G A missense_variant D131N 391G>A SKCM-US 1 1559297 1559297 single base substitution G A missense_variant D145N 433G>A SKCM-US 1 1559297 1559297 single base substitution G A missense_variant D189N 565G>A SKCM-US 1 1559297 1559297 single base substitution G A missense_variant D232N 694G>A SKCM-US 1 1559297 1559297 single base substitution G A missense_variant D246N 736G>A SKCM-US 1 1559297 1559297 single base substitution G A missense_variant D39N 115G>A SKCM-US 1 1559297 1559297 single base substitution G A upstream_gene_variant SKCM-US 1 1559299 1559299 single base substitution C T 3_prime_UTR_variant SKCM-US 1 1559299 1559299 single base substitution C T downstream_gene_variant SKCM-US 1 1559299 1559299 single base substitution C T exon_variant SKCM-US 1 1559299 1559299 single base substitution C T synonymous_variant D131D 393C>T SKCM-US 1 1559299 1559299 single base substitution C T synonymous_variant D145D 435C>T SKCM-US 1 1559299 1559299 single base substitution C T synonymous_variant D189D 567C>T SKCM-US 1 1559299 1559299 single base substitution C T synonymous_variant D232D 696C>T SKCM-US 1 1559299 1559299 single base substitution C T synonymous_variant D246D 738C>T SKCM-US 1 1559299 1559299 single base substitution C T synonymous_variant D39D 117C>T SKCM-US 1 1559299 1559299 single base substitution C T upstream_gene_variant SKCM-US 1 1560202 1560202 single base substitution C T 3_prime_UTR_variant SKCM-US 1 1560202 1560202 single base substitution C T downstream_gene_variant SKCM-US 1 1560202 1560202 single base substitution C T exon_variant SKCM-US 1 1560202 1560202 single base substitution C T synonymous_variant L149L 447C>T SKCM-US 1 1560202 1560202 single base substitution C T synonymous_variant L163L 489C>T SKCM-US 1 1560202 1560202 single base substitution C T synonymous_variant L207L 621C>T SKCM-US 1 1560202 1560202 single base substitution C T synonymous_variant L250L 750C>T SKCM-US 1 1560202 1560202 single base substitution C T synonymous_variant L264L 792C>T SKCM-US 1 1560202 1560202 single base substitution C T synonymous_variant L57L 171C>T SKCM-US 1 1560202 1560202 single base substitution C T upstream_gene_variant SKCM-US 1 1560431 1560431 single base substitution G A 3_prime_UTR_variant SKCM-US 1 1560431 1560431 single base substitution G A downstream_gene_variant SKCM-US 1 1560431 1560431 single base substitution G A exon_variant SKCM-US 1 1560431 1560431 single base substitution G A intron_variant SKCM-US 1 1560431 1560431 single base substitution G A missense_variant R104Q 311G>A SKCM-US 1 1560431 1560431 single base substitution G A missense_variant R196Q 587G>A SKCM-US 1 1560431 1560431 single base substitution G A missense_variant R210Q 629G>A SKCM-US 1 1560431 1560431 single base substitution G A missense_variant R254Q 761G>A SKCM-US 1 1560431 1560431 single base substitution G A missense_variant R297Q 890G>A SKCM-US 1 1560431 1560431 single base substitution G A missense_variant R311Q 932G>A SKCM-US 1 1560431 1560431 single base substitution G A upstream_gene_variant SKCM-US 1 1560564 1560564 single base substitution C T downstream_gene_variant SKCM-US 1 1560564 1560564 single base substitution C T intron_variant SKCM-US 1 1560564 1560564 single base substitution C T splice_region_variant SKCM-US 1 1560564 1560564 single base substitution C T upstream_gene_variant SKCM-US 1 1560740 1560740 single base substitution C T 3_prime_UTR_variant SKCM-US 1 1560740 1560740 single base substitution C T downstream_gene_variant SKCM-US 1 1560740 1560740 single base substitution C T exon_variant SKCM-US 1 1560740 1560740 single base substitution C T synonymous_variant L174L 520C>T SKCM-US 1 1560740 1560740 single base substitution C T synonymous_variant L201L 601C>T SKCM-US 1 1560740 1560740 single base substitution C T synonymous_variant L266L 796C>T SKCM-US 1 1560740 1560740 single base substitution C T synonymous_variant L280L 838C>T SKCM-US 1 1560740 1560740 single base substitution C T synonymous_variant L316L 946C>T SKCM-US 1 1560740 1560740 single base substitution C T synonymous_variant L324L 970C>T SKCM-US 1 1560740 1560740 single base substitution C T synonymous_variant L367L 1099C>T SKCM-US 1 1560740 1560740 single base substitution C T synonymous_variant L381L 1141C>T SKCM-US 1 1560740 1560740 single base substitution C T upstream_gene_variant SKCM-US 1 1560757 1560757 single base substitution C T 3_prime_UTR_variant SKCM-US 1 1560757 1560757 single base substitution C T downstream_gene_variant SKCM-US 1 1560757 1560757 single base substitution C T exon_variant SKCM-US 1 1560757 1560757 single base substitution C T synonymous_variant V179V 537C>T SKCM-US 1 1560757 1560757 single base substitution C T synonymous_variant V206V 618C>T SKCM-US 1 1560757 1560757 single base substitution C T synonymous_variant V271V 813C>T SKCM-US 1 1560757 1560757 single base substitution C T synonymous_variant V285V 855C>T SKCM-US 1 1560757 1560757 single base substitution C T synonymous_variant V321V 963C>T SKCM-US 1 1560757 1560757 single base substitution C T synonymous_variant V329V 987C>T SKCM-US 1 1560757 1560757 single base substitution C T synonymous_variant V372V 1116C>T SKCM-US 1 1560757 1560757 single base substitution C T synonymous_variant V386V 1158C>T SKCM-US 1 1560757 1560757 single base substitution C T upstream_gene_variant SKCM-US 1 1562297 1562297 single base substitution C T 3_prime_UTR_variant SKCM-US 1 1562297 1562297 single base substitution C T downstream_gene_variant SKCM-US 1 1562297 1562297 single base substitution C T exon_variant SKCM-US 1 1562297 1562297 single base substitution C T synonymous_variant T259T 777C>T SKCM-US 1 1562297 1562297 single base substitution C T synonymous_variant T321T 963C>T SKCM-US 1 1562297 1562297 single base substitution C T synonymous_variant T350T 1050C>T SKCM-US 1 1562297 1562297 single base substitution C T synonymous_variant T400T 1200C>T SKCM-US 1 1562297 1562297 single base substitution C T synonymous_variant T408T 1224C>T SKCM-US 1 1562297 1562297 single base substitution C T synonymous_variant T409T 1227C>T SKCM-US 1 1562297 1562297 single base substitution C T synonymous_variant T436T 1308C>T SKCM-US 1 1562297 1562297 single base substitution C T synonymous_variant T444T 1332C>T SKCM-US 1 1562297 1562297 single base substitution C T synonymous_variant T487T 1461C>T SKCM-US 1 1562297 1562297 single base substitution C T synonymous_variant T497T 1491C>T SKCM-US 1 1562297 1562297 single base substitution C T synonymous_variant T501T 1503C>T SKCM-US 1 1562297 1562297 single base substitution C T upstream_gene_variant SKCM-US 1 1562489 1562489 single base substitution C G 3_prime_UTR_variant SKCM-US 1 1562489 1562489 single base substitution C G downstream_gene_variant SKCM-US 1 1562489 1562489 single base substitution C G exon_variant SKCM-US 1 1562489 1562489 single base substitution C G missense_variant Q299E 895C>G SKCM-US 1 1562489 1562489 single base substitution C G missense_variant Q361E 1081C>G SKCM-US 1 1562489 1562489 single base substitution C G missense_variant Q390E 1168C>G SKCM-US 1 1562489 1562489 single base substitution C G missense_variant Q440E 1318C>G SKCM-US 1 1562489 1562489 single base substitution C G missense_variant Q448E 1342C>G SKCM-US 1 1562489 1562489 single base substitution C G missense_variant Q449E 1345C>G SKCM-US 1 1562489 1562489 single base substitution C G missense_variant Q476E 1426C>G SKCM-US 1 1562489 1562489 single base substitution C G missense_variant Q484E 1450C>G SKCM-US 1 1562489 1562489 single base substitution C G missense_variant Q527E 1579C>G SKCM-US 1 1562489 1562489 single base substitution C G missense_variant Q537E 1609C>G SKCM-US 1 1562489 1562489 single base substitution C G missense_variant Q541E 1621C>G SKCM-US 1 1562489 1562489 single base substitution C G upstream_gene_variant SKCM-US 1 1563124 1563124 single base substitution G A 3_prime_UTR_variant SKCM-US 1 1563124 1563124 single base substitution G A downstream_gene_variant SKCM-US 1 1563124 1563124 single base substitution G A exon_variant SKCM-US 1 1563124 1563124 single base substitution G A missense_variant S405N 1214G>A SKCM-US 1 1563124 1563124 single base substitution G A missense_variant S467N 1400G>A SKCM-US 1 1563124 1563124 single base substitution G A missense_variant S496N 1487G>A SKCM-US 1 1563124 1563124 single base substitution G A missense_variant S546N 1637G>A SKCM-US 1 1563124 1563124 single base substitution G A missense_variant S554N 1661G>A SKCM-US 1 1563124 1563124 single base substitution G A missense_variant S555N 1664G>A SKCM-US 1 1563124 1563124 single base substitution G A missense_variant S582N 1745G>A SKCM-US 1 1563124 1563124 single base substitution G A missense_variant S590N 1769G>A SKCM-US 1 1563124 1563124 single base substitution G A missense_variant S633N 1898G>A SKCM-US 1 1563124 1563124 single base substitution G A missense_variant S643N 1928G>A SKCM-US 1 1563124 1563124 single base substitution G A missense_variant S647N 1940G>A SKCM-US 1 1563124 1563124 single base substitution G A upstream_gene_variant SKCM-US 1 1563427 1563427 single base substitution C T 3_prime_UTR_variant SKCM-US 1 1563427 1563427 single base substitution C T downstream_gene_variant SKCM-US 1 1563427 1563427 single base substitution C T exon_variant SKCM-US 1 1563427 1563427 single base substitution C T missense_variant S443F 1328C>T SKCM-US 1 1563427 1563427 single base substitution C T missense_variant S505F 1514C>T SKCM-US 1 1563427 1563427 single base substitution C T missense_variant S534F 1601C>T SKCM-US 1 1563427 1563427 single base substitution C T missense_variant S584F 1751C>T SKCM-US 1 1563427 1563427 single base substitution C T missense_variant S592F 1775C>T SKCM-US 1 1563427 1563427 single base substitution C T missense_variant S593F 1778C>T SKCM-US 1 1563427 1563427 single base substitution C T missense_variant S620F 1859C>T SKCM-US 1 1563427 1563427 single base substitution C T missense_variant S628F 1883C>T SKCM-US 1 1563427 1563427 single base substitution C T missense_variant S671F 2012C>T SKCM-US 1 1563427 1563427 single base substitution C T missense_variant S681F 2042C>T SKCM-US 1 1563427 1563427 single base substitution C T missense_variant S685F 2054C>T SKCM-US 1 1563427 1563427 single base substitution C T upstream_gene_variant SKCM-US 1 1563761 1563761 single base substitution C G 3_prime_UTR_variant SKCM-US 1 1563761 1563761 single base substitution C G downstream_gene_variant SKCM-US 1 1563761 1563761 single base substitution C G exon_variant SKCM-US 1 1563761 1563761 single base substitution C G synonymous_variant A523A 1569C>G SKCM-US 1 1563761 1563761 single base substitution C G synonymous_variant A585A 1755C>G SKCM-US 1 1563761 1563761 single base substitution C G synonymous_variant A614A 1842C>G SKCM-US 1 1563761 1563761 single base substitution C G synonymous_variant A664A 1992C>G SKCM-US 1 1563761 1563761 single base substitution C G synonymous_variant A672A 2016C>G SKCM-US 1 1563761 1563761 single base substitution C G synonymous_variant A673A 2019C>G SKCM-US 1 1563761 1563761 single base substitution C G synonymous_variant A700A 2100C>G SKCM-US 1 1563761 1563761 single base substitution C G synonymous_variant A708A 2124C>G SKCM-US 1 1563761 1563761 single base substitution C G synonymous_variant A751A 2253C>G SKCM-US 1 1563761 1563761 single base substitution C G synonymous_variant A761A 2283C>G SKCM-US 1 1563761 1563761 single base substitution C G synonymous_variant A765A 2295C>G SKCM-US 1 1563761 1563761 single base substitution C G upstream_gene_variant SKCM-US 1 1563922 1563922 single base substitution C T 3_prime_UTR_variant SKCM-US 1 1563922 1563922 single base substitution C T downstream_gene_variant SKCM-US 1 1563922 1563922 single base substitution C T exon_variant SKCM-US 1 1563922 1563922 single base substitution C T synonymous_variant L18L 54C>T SKCM-US 1 1563922 1563922 single base substitution C T synonymous_variant L547L 1641C>T SKCM-US 1 1563922 1563922 single base substitution C T synonymous_variant L609L 1827C>T SKCM-US 1 1563922 1563922 single base substitution C T synonymous_variant L638L 1914C>T SKCM-US 1 1563922 1563922 single base substitution C T synonymous_variant L688L 2064C>T SKCM-US 1 1563922 1563922 single base substitution C T synonymous_variant L696L 2088C>T SKCM-US 1 1563922 1563922 single base substitution C T synonymous_variant L697L 2091C>T SKCM-US 1 1563922 1563922 single base substitution C T synonymous_variant L724L 2172C>T SKCM-US 1 1563922 1563922 single base substitution C T synonymous_variant L732L 2196C>T SKCM-US 1 1563922 1563922 single base substitution C T synonymous_variant L775L 2325C>T SKCM-US 1 1563922 1563922 single base substitution C T synonymous_variant L785L 2355C>T SKCM-US 1 1563922 1563922 single base substitution C T synonymous_variant L789L 2367C>T SKCM-US 1 1563922 1563922 single base substitution C T upstream_gene_variant SKCM-US 1 1565078 1565078 single base substitution C T 3_prime_UTR_variant SKCM-US 1 1565078 1565078 single base substitution C T downstream_gene_variant SKCM-US 1 1565078 1565078 single base substitution C T exon_variant SKCM-US 1 1565078 1565078 single base substitution C T missense_variant A749V 2246C>T SKCM-US 1 1565078 1565078 single base substitution C T missense_variant R252C 754C>T SKCM-US 1 1565078 1565078 single base substitution C T missense_variant R748C 2242C>T SKCM-US 1 1565078 1565078 single base substitution C T missense_variant R839C 2515C>T SKCM-US 1 1565078 1565078 single base substitution C T missense_variant R889C 2665C>T SKCM-US 1 1565078 1565078 single base substitution C T missense_variant R897C 2689C>T SKCM-US 1 1565078 1565078 single base substitution C T missense_variant R898C 2692C>T SKCM-US 1 1565078 1565078 single base substitution C T missense_variant R925C 2773C>T SKCM-US 1 1565078 1565078 single base substitution C T missense_variant R933C 2797C>T SKCM-US 1 1565078 1565078 single base substitution C T missense_variant R976C 2926C>T SKCM-US 1 1565078 1565078 single base substitution C T missense_variant R986C 2956C>T SKCM-US 1 1565078 1565078 single base substitution C T missense_variant R990C 2968C>T SKCM-US 1 1565904 1565904 single base substitution C T 3_prime_UTR_variant SKCM-US 1 1565904 1565904 single base substitution C T downstream_gene_variant SKCM-US 1 1565904 1565904 single base substitution C T exon_variant SKCM-US 1 1565904 1565904 single base substitution C T synonymous_variant F1004F 3012C>T SKCM-US 1 1565904 1565904 single base substitution C T synonymous_variant F1012F 3036C>T SKCM-US 1 1565904 1565904 single base substitution C T synonymous_variant F1055F 3165C>T SKCM-US 1 1565904 1565904 single base substitution C T synonymous_variant F1065F 3195C>T SKCM-US 1 1565904 1565904 single base substitution C T synonymous_variant F1069F 3207C>T SKCM-US 1 1565904 1565904 single base substitution C T synonymous_variant F331F 993C>T SKCM-US 1 1565904 1565904 single base substitution C T synonymous_variant F827F 2481C>T SKCM-US 1 1565904 1565904 single base substitution C T synonymous_variant F918F 2754C>T SKCM-US 1 1565904 1565904 single base substitution C T synonymous_variant F968F 2904C>T SKCM-US 1 1565904 1565904 single base substitution C T synonymous_variant F976F 2928C>T SKCM-US 1 1565904 1565904 single base substitution C T synonymous_variant F977F 2931C>T SKCM-US 1 1569976 1569976 single base substitution C T downstream_gene_variant STAD-US 1 1559291 1559291 single base substitution G A 3_prime_UTR_variant STAD-US 1 1559291 1559291 single base substitution G A downstream_gene_variant STAD-US 1 1559291 1559291 single base substitution G A exon_variant STAD-US 1 1559291 1559291 single base substitution G A missense_variant A129T 385G>A STAD-US 1 1559291 1559291 single base substitution G A missense_variant A143T 427G>A STAD-US 1 1559291 1559291 single base substitution G A missense_variant A187T 559G>A STAD-US 1 1559291 1559291 single base substitution G A missense_variant A230T 688G>A STAD-US 1 1559291 1559291 single base substitution G A missense_variant A244T 730G>A STAD-US 1 1559291 1559291 single base substitution G A missense_variant A37T 109G>A STAD-US 1 1559291 1559291 single base substitution G A upstream_gene_variant STAD-US 1 1560527 1560527 single base substitution C T 3_prime_UTR_variant STAD-US 1 1560527 1560527 single base substitution C T downstream_gene_variant STAD-US 1 1560527 1560527 single base substitution C T exon_variant STAD-US 1 1560527 1560527 single base substitution C T intron_variant STAD-US 1 1560527 1560527 single base substitution C T missense_variant A136V 407C>T STAD-US 1 1560527 1560527 single base substitution C T missense_variant A228V 683C>T STAD-US 1 1560527 1560527 single base substitution C T missense_variant A242V 725C>T STAD-US 1 1560527 1560527 single base substitution C T missense_variant A286V 857C>T STAD-US 1 1560527 1560527 single base substitution C T missense_variant A329V 986C>T STAD-US 1 1560527 1560527 single base substitution C T missense_variant A343V 1028C>T STAD-US 1 1560527 1560527 single base substitution C T upstream_gene_variant STAD-US 1 1560532 1560532 single base substitution G A 3_prime_UTR_variant STAD-US 1 1560532 1560532 single base substitution G A downstream_gene_variant STAD-US 1 1560532 1560532 single base substitution G A exon_variant STAD-US 1 1560532 1560532 single base substitution G A intron_variant STAD-US 1 1560532 1560532 single base substitution G A missense_variant G138S 412G>A STAD-US 1 1560532 1560532 single base substitution G A missense_variant G230S 688G>A STAD-US 1 1560532 1560532 single base substitution G A missense_variant G244S 730G>A STAD-US 1 1560532 1560532 single base substitution G A missense_variant G288S 862G>A STAD-US 1 1560532 1560532 single base substitution G A missense_variant G331S 991G>A STAD-US 1 1560532 1560532 single base substitution G A missense_variant G345S 1033G>A STAD-US 1 1560532 1560532 single base substitution G A upstream_gene_variant STAD-US 1 1562227 1562227 single base substitution G A 3_prime_UTR_variant STAD-US 1 1562227 1562227 single base substitution G A downstream_gene_variant STAD-US 1 1562227 1562227 single base substitution G A exon_variant STAD-US 1 1562227 1562227 single base substitution G A missense_variant R236H 707G>A STAD-US 1 1562227 1562227 single base substitution G A missense_variant R298H 893G>A STAD-US 1 1562227 1562227 single base substitution G A missense_variant R327H 980G>A STAD-US 1 1562227 1562227 single base substitution G A missense_variant R377H 1130G>A STAD-US 1 1562227 1562227 single base substitution G A missense_variant R385H 1154G>A STAD-US 1 1562227 1562227 single base substitution G A missense_variant R386H 1157G>A STAD-US 1 1562227 1562227 single base substitution G A missense_variant R413H 1238G>A STAD-US 1 1562227 1562227 single base substitution G A missense_variant R421H 1262G>A STAD-US 1 1562227 1562227 single base substitution G A missense_variant R464H 1391G>A STAD-US 1 1562227 1562227 single base substitution G A missense_variant R474H 1421G>A STAD-US 1 1562227 1562227 single base substitution G A missense_variant R478H 1433G>A STAD-US 1 1562227 1562227 single base substitution G A upstream_gene_variant STAD-US 1 1562274 1562274 single base substitution G A 3_prime_UTR_variant STAD-US 1 1562274 1562274 single base substitution G A downstream_gene_variant STAD-US 1 1562274 1562274 single base substitution G A exon_variant STAD-US 1 1562274 1562274 single base substitution G A missense_variant A252T 754G>A STAD-US 1 1562274 1562274 single base substitution G A missense_variant A314T 940G>A STAD-US 1 1562274 1562274 single base substitution G A missense_variant A343T 1027G>A STAD-US 1 1562274 1562274 single base substitution G A missense_variant A393T 1177G>A STAD-US 1 1562274 1562274 single base substitution G A missense_variant A401T 1201G>A STAD-US 1 1562274 1562274 single base substitution G A missense_variant A402T 1204G>A STAD-US 1 1562274 1562274 single base substitution G A missense_variant A429T 1285G>A STAD-US 1 1562274 1562274 single base substitution G A missense_variant A437T 1309G>A STAD-US 1 1562274 1562274 single base substitution G A missense_variant A480T 1438G>A STAD-US 1 1562274 1562274 single base substitution G A missense_variant A490T 1468G>A STAD-US 1 1562274 1562274 single base substitution G A missense_variant A494T 1480G>A STAD-US 1 1562274 1562274 single base substitution G A upstream_gene_variant STAD-US 1 1563724 1563724 single base substitution T C 3_prime_UTR_variant STAD-US 1 1563724 1563724 single base substitution T C downstream_gene_variant STAD-US 1 1563724 1563724 single base substitution T C exon_variant STAD-US 1 1563724 1563724 single base substitution T C missense_variant L511P 1532T>C STAD-US 1 1563724 1563724 single base substitution T C missense_variant L573P 1718T>C STAD-US 1 1563724 1563724 single base substitution T C missense_variant L602P 1805T>C STAD-US 1 1563724 1563724 single base substitution T C missense_variant L652P 1955T>C STAD-US 1 1563724 1563724 single base substitution T C missense_variant L660P 1979T>C STAD-US 1 1563724 1563724 single base substitution T C missense_variant L661P 1982T>C STAD-US 1 1563724 1563724 single base substitution T C missense_variant L688P 2063T>C STAD-US 1 1563724 1563724 single base substitution T C missense_variant L696P 2087T>C STAD-US 1 1563724 1563724 single base substitution T C missense_variant L739P 2216T>C STAD-US 1 1563724 1563724 single base substitution T C missense_variant L749P 2246T>C STAD-US 1 1563724 1563724 single base substitution T C missense_variant L753P 2258T>C STAD-US 1 1563724 1563724 single base substitution T C upstream_gene_variant STAD-US 1 1564542 1564542 single base substitution G A 3_prime_UTR_variant STAD-US 1 1564542 1564542 single base substitution G A downstream_gene_variant STAD-US 1 1564542 1564542 single base substitution G A exon_variant STAD-US 1 1564542 1564542 single base substitution G A synonymous_variant A121A 363G>A STAD-US 1 1564542 1564542 single base substitution G A synonymous_variant A617A 1851G>A STAD-US 1 1564542 1564542 single base substitution G A synonymous_variant A679A 2037G>A STAD-US 1 1564542 1564542 single base substitution G A synonymous_variant A708A 2124G>A STAD-US 1 1564542 1564542 single base substitution G A synonymous_variant A758A 2274G>A STAD-US 1 1564542 1564542 single base substitution G A synonymous_variant A766A 2298G>A STAD-US 1 1564542 1564542 single base substitution G A synonymous_variant A767A 2301G>A STAD-US 1 1564542 1564542 single base substitution G A synonymous_variant A794A 2382G>A STAD-US 1 1564542 1564542 single base substitution G A synonymous_variant A802A 2406G>A STAD-US 1 1564542 1564542 single base substitution G A synonymous_variant A845A 2535G>A STAD-US 1 1564542 1564542 single base substitution G A synonymous_variant A855A 2565G>A STAD-US 1 1564542 1564542 single base substitution G A synonymous_variant A859A 2577G>A STAD-US 1 1564542 1564542 single base substitution G A upstream_gene_variant THCA-SA 1 1550992 1550992 single base substitution C A 5_prime_UTR_variant THCA-SA 1 1550992 1550992 single base substitution C A exon_variant THCA-SA 1 1550992 1550992 single base substitution C A stop_gained C51* 153C>A THCA-SA 1 1550992 1550992 single base substitution C A upstream_gene_variant THCA-SA 1 1560793 1560793 single base substitution C T 3_prime_UTR_variant THCA-SA 1 1560793 1560793 single base substitution C T downstream_gene_variant THCA-SA 1 1560793 1560793 single base substitution C T exon_variant THCA-SA 1 1560793 1560793 single base substitution C T synonymous_variant N191N 573C>T THCA-SA 1 1560793 1560793 single base substitution C T synonymous_variant N218N 654C>T THCA-SA 1 1560793 1560793 single base substitution C T synonymous_variant N283N 849C>T THCA-SA 1 1560793 1560793 single base substitution C T synonymous_variant N297N 891C>T THCA-SA 1 1560793 1560793 single base substitution C T synonymous_variant N333N 999C>T THCA-SA 1 1560793 1560793 single base substitution C T synonymous_variant N341N 1023C>T THCA-SA 1 1560793 1560793 single base substitution C T synonymous_variant N384N 1152C>T THCA-SA 1 1560793 1560793 single base substitution C T synonymous_variant N398N 1194C>T THCA-SA 1 1560793 1560793 single base substitution C T upstream_gene_variant UCEC-US 1 1558903 1558903 single base substitution G A downstream_gene_variant UCEC-US 1 1558903 1558903 single base substitution G A exon_variant UCEC-US 1 1558903 1558903 single base substitution G A intron_variant UCEC-US 1 1558903 1558903 single base substitution G A missense_variant G125D 374G>A UCEC-US 1 1558903 1558903 single base substitution G A missense_variant G139D 416G>A UCEC-US 1 1558903 1558903 single base substitution G A missense_variant G24D 71G>A UCEC-US 1 1558903 1558903 single base substitution G A missense_variant G38D 113G>A UCEC-US 1 1558903 1558903 single base substitution G A missense_variant G82D 245G>A UCEC-US 1 1558903 1558903 single base substitution G A upstream_gene_variant UCEC-US 1 1559166 1559166 single base substitution C T downstream_gene_variant UCEC-US 1 1559166 1559166 single base substitution C T exon_variant UCEC-US 1 1559166 1559166 single base substitution C T missense_variant P101L 302C>T UCEC-US 1 1559166 1559166 single base substitution C T missense_variant P145L 434C>T UCEC-US 1 1559166 1559166 single base substitution C T missense_variant P188L 563C>T UCEC-US 1 1559166 1559166 single base substitution C T missense_variant P202L 605C>T UCEC-US 1 1559166 1559166 single base substitution C T missense_variant P87L 260C>T UCEC-US 1 1559166 1559166 single base substitution C T upstream_gene_variant UCEC-US 1 1560527 1560527 single base substitution C T 3_prime_UTR_variant UCEC-US 1 1560527 1560527 single base substitution C T downstream_gene_variant UCEC-US 1 1560527 1560527 single base substitution C T exon_variant UCEC-US 1 1560527 1560527 single base substitution C T intron_variant UCEC-US 1 1560527 1560527 single base substitution C T missense_variant A136V 407C>T UCEC-US 1 1560527 1560527 single base substitution C T missense_variant A228V 683C>T UCEC-US 1 1560527 1560527 single base substitution C T missense_variant A242V 725C>T UCEC-US 1 1560527 1560527 single base substitution C T missense_variant A286V 857C>T UCEC-US 1 1560527 1560527 single base substitution C T missense_variant A329V 986C>T UCEC-US 1 1560527 1560527 single base substitution C T missense_variant A343V 1028C>T UCEC-US 1 1560527 1560527 single base substitution C T upstream_gene_variant UCEC-US 1 1560705 1560705 single base substitution G T 3_prime_UTR_variant UCEC-US 1 1560705 1560705 single base substitution G T downstream_gene_variant UCEC-US 1 1560705 1560705 single base substitution G T exon_variant UCEC-US 1 1560705 1560705 single base substitution G T missense_variant S162I 485G>T UCEC-US 1 1560705 1560705 single base substitution G T missense_variant S189I 566G>T UCEC-US 1 1560705 1560705 single base substitution G T missense_variant S254I 761G>T UCEC-US 1 1560705 1560705 single base substitution G T missense_variant S268I 803G>T UCEC-US 1 1560705 1560705 single base substitution G T missense_variant S304I 911G>T UCEC-US 1 1560705 1560705 single base substitution G T missense_variant S312I 935G>T UCEC-US 1 1560705 1560705 single base substitution G T missense_variant S355I 1064G>T UCEC-US 1 1560705 1560705 single base substitution G T missense_variant S369I 1106G>T UCEC-US 1 1560705 1560705 single base substitution G T upstream_gene_variant UCEC-US 1 1560977 1560977 single base substitution C T 3_prime_UTR_variant UCEC-US 1 1560977 1560977 single base substitution C T downstream_gene_variant UCEC-US 1 1560977 1560977 single base substitution C T exon_variant UCEC-US 1 1560977 1560977 single base substitution C T intron_variant UCEC-US 1 1560977 1560977 single base substitution C T missense_variant R214C 640C>T UCEC-US 1 1560977 1560977 single base substitution C T missense_variant R241C 721C>T UCEC-US 1 1560977 1560977 single base substitution C T missense_variant R320C 958C>T UCEC-US 1 1560977 1560977 single base substitution C T missense_variant R356C 1066C>T UCEC-US 1 1560977 1560977 single base substitution C T missense_variant R364C 1090C>T UCEC-US 1 1560977 1560977 single base substitution C T missense_variant R407C 1219C>T UCEC-US 1 1560977 1560977 single base substitution C T missense_variant R417C 1249C>T UCEC-US 1 1560977 1560977 single base substitution C T missense_variant R421C 1261C>T UCEC-US 1 1560977 1560977 single base substitution C T upstream_gene_variant UCEC-US 1 1563170 1563170 single base substitution G A 3_prime_UTR_variant UCEC-US 1 1563170 1563170 single base substitution G A downstream_gene_variant UCEC-US 1 1563170 1563170 single base substitution G A exon_variant UCEC-US 1 1563170 1563170 single base substitution G A synonymous_variant V420V 1260G>A UCEC-US 1 1563170 1563170 single base substitution G A synonymous_variant V482V 1446G>A UCEC-US 1 1563170 1563170 single base substitution G A synonymous_variant V511V 1533G>A UCEC-US 1 1563170 1563170 single base substitution G A synonymous_variant V561V 1683G>A UCEC-US 1 1563170 1563170 single base substitution G A synonymous_variant V569V 1707G>A UCEC-US 1 1563170 1563170 single base substitution G A synonymous_variant V570V 1710G>A UCEC-US 1 1563170 1563170 single base substitution G A synonymous_variant V597V 1791G>A UCEC-US 1 1563170 1563170 single base substitution G A synonymous_variant V605V 1815G>A UCEC-US 1 1563170 1563170 single base substitution G A synonymous_variant V648V 1944G>A UCEC-US 1 1563170 1563170 single base substitution G A synonymous_variant V658V 1974G>A UCEC-US 1 1563170 1563170 single base substitution G A synonymous_variant V662V 1986G>A UCEC-US 1 1563170 1563170 single base substitution G A upstream_gene_variant UCEC-US 1 1563171 1563171 single base substitution C T 3_prime_UTR_variant UCEC-US 1 1563171 1563171 single base substitution C T downstream_gene_variant UCEC-US 1 1563171 1563171 single base substitution C T exon_variant UCEC-US 1 1563171 1563171 single base substitution C T missense_variant R421W 1261C>T UCEC-US 1 1563171 1563171 single base substitution C T missense_variant R483W 1447C>T UCEC-US 1 1563171 1563171 single base substitution C T missense_variant R512W 1534C>T UCEC-US 1 1563171 1563171 single base substitution C T missense_variant R562W 1684C>T UCEC-US 1 1563171 1563171 single base substitution C T missense_variant R570W 1708C>T UCEC-US 1 1563171 1563171 single base substitution C T missense_variant R571W 1711C>T UCEC-US 1 1563171 1563171 single base substitution C T missense_variant R598W 1792C>T UCEC-US 1 1563171 1563171 single base substitution C T missense_variant R606W 1816C>T UCEC-US 1 1563171 1563171 single base substitution C T missense_variant R649W 1945C>T UCEC-US 1 1563171 1563171 single base substitution C T missense_variant R659W 1975C>T UCEC-US 1 1563171 1563171 single base substitution C T missense_variant R663W 1987C>T UCEC-US 1 1563171 1563171 single base substitution C T upstream_gene_variant UCEC-US 1 1563440 1563440 single base substitution G A 3_prime_UTR_variant UCEC-US 1 1563440 1563440 single base substitution G A downstream_gene_variant UCEC-US 1 1563440 1563440 single base substitution G A exon_variant UCEC-US 1 1563440 1563440 single base substitution G A synonymous_variant A447A 1341G>A UCEC-US 1 1563440 1563440 single base substitution G A synonymous_variant A509A 1527G>A UCEC-US 1 1563440 1563440 single base substitution G A synonymous_variant A538A 1614G>A UCEC-US 1 1563440 1563440 single base substitution G A synonymous_variant A588A 1764G>A UCEC-US 1 1563440 1563440 single base substitution G A synonymous_variant A596A 1788G>A UCEC-US 1 1563440 1563440 single base substitution G A synonymous_variant A597A 1791G>A UCEC-US 1 1563440 1563440 single base substitution G A synonymous_variant A624A 1872G>A UCEC-US 1 1563440 1563440 single base substitution G A synonymous_variant A632A 1896G>A UCEC-US 1 1563440 1563440 single base substitution G A synonymous_variant A675A 2025G>A UCEC-US 1 1563440 1563440 single base substitution G A synonymous_variant A685A 2055G>A UCEC-US 1 1563440 1563440 single base substitution G A synonymous_variant A689A 2067G>A UCEC-US 1 1563440 1563440 single base substitution G A upstream_gene_variant UCEC-US 1 1563491 1563491 single base substitution C T 3_prime_UTR_variant UCEC-US 1 1563491 1563491 single base substitution C T downstream_gene_variant UCEC-US 1 1563491 1563491 single base substitution C T exon_variant UCEC-US 1 1563491 1563491 single base substitution C T synonymous_variant I464I 1392C>T UCEC-US 1 1563491 1563491 single base substitution C T synonymous_variant I526I 1578C>T UCEC-US 1 1563491 1563491 single base substitution C T synonymous_variant I555I 1665C>T UCEC-US 1 1563491 1563491 single base substitution C T synonymous_variant I605I 1815C>T UCEC-US 1 1563491 1563491 single base substitution C T synonymous_variant I613I 1839C>T UCEC-US 1 1563491 1563491 single base substitution C T synonymous_variant I614I 1842C>T UCEC-US 1 1563491 1563491 single base substitution C T synonymous_variant I641I 1923C>T UCEC-US 1 1563491 1563491 single base substitution C T synonymous_variant I649I 1947C>T UCEC-US 1 1563491 1563491 single base substitution C T synonymous_variant I692I 2076C>T UCEC-US 1 1563491 1563491 single base substitution C T synonymous_variant I702I 2106C>T UCEC-US 1 1563491 1563491 single base substitution C T synonymous_variant I706I 2118C>T UCEC-US 1 1563491 1563491 single base substitution C T upstream_gene_variant UCEC-US 1 1563680 1563680 single base substitution G A 3_prime_UTR_variant UCEC-US 1 1563680 1563680 single base substitution G A downstream_gene_variant UCEC-US 1 1563680 1563680 single base substitution G A exon_variant UCEC-US 1 1563680 1563680 single base substitution G A synonymous_variant A496A 1488G>A UCEC-US 1 1563680 1563680 single base substitution G A synonymous_variant A558A 1674G>A UCEC-US 1 1563680 1563680 single base substitution G A synonymous_variant A587A 1761G>A UCEC-US 1 1563680 1563680 single base substitution G A synonymous_variant A637A 1911G>A UCEC-US 1 1563680 1563680 single base substitution G A synonymous_variant A645A 1935G>A UCEC-US 1 1563680 1563680 single base substitution G A synonymous_variant A646A 1938G>A UCEC-US 1 1563680 1563680 single base substitution G A synonymous_variant A673A 2019G>A UCEC-US 1 1563680 1563680 single base substitution G A synonymous_variant A681A 2043G>A UCEC-US 1 1563680 1563680 single base substitution G A synonymous_variant A724A 2172G>A UCEC-US 1 1563680 1563680 single base substitution G A synonymous_variant A734A 2202G>A UCEC-US 1 1563680 1563680 single base substitution G A synonymous_variant A738A 2214G>A UCEC-US 1 1563680 1563680 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HN_62854 COSM121196 c.1674G>C p.T558T Substitution - coding silent 1:1627421-1627421 + T3090 COSM4702100 c.1342T>C p.S448P Substitution - Missense 1:1626927-1626927 + OSCC-GB_00560111 COSM4632558 c.960G>T p.K320N Substitution - Missense 1:1625350-1625350 + YUKAT COSM5377868 c.1200G>A p.R400R Substitution - coding silent 1:1625419-1625419 + 8035603 COSM3385250 c.161C>A p.A54E Substitution - Missense 1:1623439-1623439 + S01542 COSM5669431 c.467G>A p.R156H Substitution - Missense 1:1623574-1623574 + PDA_100 COSM5003512 c.3182_3183insA p.I1062fs*>10 Insertion - Frameshift 1:1630499-1630500 + S00938 COSM5663139 c.3014T>A p.I1005N Substitution - Missense 1:1630502-1630502 + RMS2107 COSM5880980 c.795G>A p.P265P Substitution - coding silent 1:1624825-1624825 + TCGA-A6-6653-01 COSM5091916 c.2969G>A p.R990H Substitution - Missense 1:1629699-1629699 + 61 COSM5735211 c.623G>A p.C208Y Substitution - Missense 1:1623804-1623804 + RW7213 COSM4649845 c.1136C>G p.A379G Substitution - Missense 1:1625643-1625643 + TCGA-A6-6653-01 COSM1335059 c.2798G>A p.R933H Substitution - Missense 1:1629699-1629699 + 1N57-VS-1T57 COSM4977295 c.1770G>C p.L590L Substitution - coding silent 1:1627346-1627346 + Pat_41_B COSM5843937 c.763C>T p.P255S Substitution - Missense 1:1623944-1623944 + ESO-0292 COSM1241432 c.2341delG p.D783fs*22 Deletion - Frameshift 1:1628687-1628687 + S00943 COSM312867 c.2039G>T p.R680L Substitution - Missense 1:1628296-1628296 + B37 COSM1747827 c.1339C>T p.P447S Substitution - Missense 1:1626924-1626924 + TCGA-BS-A0TE-01 COSM897080 c.434C>T p.P145L Substitution - Missense 1:1623786-1623786 + BHY COSM4592234 c.2065A>G p.K689E Substitution - Missense 1:1628322-1628322 + WA16 COSM240665 c.1324C>T p.R442W Substitution - Missense 1:1626909-1626909 + HCC19T COSM1600961 c.2084C>T p.A695V Substitution - Missense 1:1628341-1628341 + TCGA-GN-A26C-01 COSM3475212 c.1883C>T p.S628F Substitution - Missense 1:1628047-1628047 + TCGA-BS-A0TJ-01 COSM897204 c.1816C>T p.R606W Substitution - Missense 1:1627791-1627791 + 2492730 COSM5728170 c.67C>T p.R23C Substitution - Missense 1:1615526-1615526 + CSCC-31-T COSM4524594 c.1110G>A p.E370E Substitution - coding silent 1:1625617-1625617 + SC_9008 COSM5556668 c.1953C>T p.H651H Substitution - coding silent 1:1627757-1627757 + T84 COSM1983330 c.1694T>A p.L565Q Substitution - Missense 1:1627441-1627441 + 53M COSM5594887 c.3138C>T p.A1046A Substitution - coding silent 1:1630455-1630455 + AOCS-096-1-7 COSM3979908 c.2840G>A p.G947D Substitution - Missense 1:1630328-1630328 + LUAD-FH5PJ COSM403904 c.1735G>T p.G579W Substitution - Missense 1:1627710-1627710 + HCC19 COSM1600961 c.2084C>T p.A695V Substitution - Missense 1:1628341-1628341 + ccRCC-72 COSM1662759 c.1573A>G p.T525A Substitution - Missense 1:1627320-1627320 + BCM339T COSM4802482 c.2085G>A p.A695A Substitution - coding silent 1:1628342-1628342 + B100-Tumor COSM3930431 c.1497G>A p.A499A Substitution - coding silent 1:1627156-1627156 + BCM339T COSM4802481 c.2256G>A p.A752A Substitution - coding silent 1:1628342-1628342 + PD4076a COSM5787485 c.593+9C>T p.? Unknown 1:1623954-1623954 + TCGA-DM-A1DA-01 COSM1215064 c.199G>A p.V67M Substitution - Missense 1:1623477-1623477 + pfg311T COSM4748527 c.593+2T>G p.? Unknown 1:1623947-1623947 + 8057646 COSM4135574 c.1421T>A p.L474Q Substitution - Missense 1:1627080-1627080 + SC_9081 COSM5555324 c.1015G>A p.G339S Substitution - Missense 1:1625405-1625405 + TCGA-DK-A3WW-01 COSM3788777 c.53C>T p.S18L Substitution - Missense 1:1616557-1616557 + WA37 COSM237143 c.700+3G>A p.? Unknown 1:1624904-1624904 + LUAD-E00934 COSM393413 c.1866G>C p.S622S Substitution - coding silent 1:1628030-1628030 + Pat_41_B COSM5843966 c.1600G>A p.G534S Substitution - Missense 1:1627347-1627347 + T2963 COSM4702095 c.473G>A p.R158Q Substitution - Missense 1:1623825-1623825 + TCGA-EE-A2MR-06 COSM3475321 c.3036C>T p.F1012F Substitution - coding silent 1:1630524-1630524 + YUROG COSM5377862 c.852G>A p.W284* Substitution - Nonsense 1:1624882-1624882 + LC_S9 COSM1185267 c.2186C>T p.P729L Substitution - Missense 1:1628532-1628532 + TCGA-D1-A101-01 COSM897103 c.657G>A p.A219A Substitution - coding silent 1:1624858-1624858 + HT115 COSM4222457 c.780G>A p.T260T Substitution - coding silent 1:1625070-1625070 + NCI-H716 COSM4646969 c.2967C>T p.A989A Substitution - coding silent 1:1630455-1630455 + BD165T COSM5506588 c.2738-10C>A p.? Unknown 1:1629629-1629629 + LUAD-S00488 COSM395120 c.196G>T p.G66C Substitution - Missense 1:1623474-1623474 + LC_S39 COSM1185268 c.2435G>A p.C812Y Substitution - Missense 1:1629191-1629191 + TCGA-B5-A11W-01 COSM897203 c.1815G>A p.V605V Substitution - coding silent 1:1627790-1627790 + 53M COSM4646969 c.2967C>T p.A989A Substitution - coding silent 1:1630455-1630455 + TCGA-A6-6781-01 COSM5093495 c.2862G>A p.A954A Substitution - coding silent 1:1629520-1629520 + 61 COSM5735212 c.452G>A p.C151Y Substitution - Missense 1:1623804-1623804 + 587260 COSM1215063 c.135G>A p.M45I Substitution - Missense 1:1623413-1623413 + EGC8 COSM5052640 c.1495C>T p.R499W Substitution - Missense 1:1626909-1626909 + HCC025T COSM5803692 c.1181A>T p.H394L Substitution - Missense 1:1625400-1625400 + CoCM-1 COSM4222689 c.2001C>G p.L667L Substitution - coding silent 1:1628165-1628165 + TCGA-A6-6780-01 COSM5092475 c.2512delG p.D840fs*22 Deletion - Frameshift 1:1628687-1628687 + 587228 COSM1215065 c.2431G>A p.A811T Substitution - Missense 1:1629187-1629187 + DLD1 COSM4622155 c.1537C>T p.R513C Substitution - Missense 1:1627196-1627196 + TCGA-G4-6586-01 COSM1335052 c.2241C>T p.D747D Substitution - coding silent 1:1628587-1628587 + ICGC_MB126 COSM302639 c.1387G>T p.V463L Substitution - Missense 1:1626972-1626972 + SNU-175 COSM4650235 c.279G>A p.T93T Substitution - coding silent 1:1623557-1623557 + TCGA-ED-A7PZ-01 COSM4916746 c.1315A>T p.K439* Substitution - Nonsense 1:1625651-1625651 + TCGA-CM-6674-01 COSM5160539 c.282-1G>T p.? Unknown 1:1623388-1623388 + RD COSM4989747 c.867G>T p.Q289H Substitution - Missense 1:1624897-1624897 + TCGA-HJ-7597-01 COSM4023217 c.1309G>A p.A437T Substitution - Missense 1:1626894-1626894 + CHC1717T COSM4802120 c.1854+1G>T p.? Unknown 1:1627830-1627830 + TCGA-D3-A5GO-06 COSM3475105 c.567C>T p.D189D Substitution - coding silent 1:1623919-1623919 + C086 COSM5534550 c.1861C>T p.H621Y Substitution - Missense 1:1628025-1628025 + TCGA-CM-6674-01 COSM1334885 c.111-1G>T p.? Unknown 1:1623388-1623388 + B22-Tumor COSM1747829 c.1459G>A p.D487N Substitution - Missense 1:1627118-1627118 + 1N57-VS-1T57 COSM4977296 c.1599G>C p.L533L Substitution - coding silent 1:1627346-1627346 + 2275_T COSM3976214 c.1697+6G>T p.? Unknown 1:1627450-1627450 + TCGA-EE-A3AG-06 COSM3475279 c.2196C>T p.L732L Substitution - coding silent 1:1628542-1628542 + YUKAT COSM5377869 c.1029G>A p.R343R Substitution - coding silent 1:1625419-1625419 + TCGA-EE-A3JD-06 COSM4392402 c.761G>A p.R254Q Substitution - Missense 1:1625051-1625051 + S02337 COSM4386723 c.2579_2580insG p.A861fs*29 Insertion - Frameshift 1:1629408-1629409 + T3658 COSM4702103 c.2988C>T p.S996S Substitution - coding silent 1:1630476-1630476 + PD3905a COSM5799530 c.2263G>A p.E755K Substitution - Missense 1:1628609-1628609 + B80 COSM1747828 c.1361G>C p.R454P Substitution - Missense 1:1626946-1626946 + TCGA-G2-A2EO-01 COSM1295233 c.2311C>G p.Q771E Substitution - Missense 1:1628657-1628657 + 14T COSM3711162 c.1678C>A p.L560M Substitution - Missense 1:1627425-1627425 + T33 COSM5341604 c.2980G>A p.A994T Substitution - Missense 1:1630468-1630468 + T2269 COSM4702097 c.564C>T p.F188F Substitution - coding silent 1:1623916-1623916 + 18 COSM1257696 c.2161G>A p.V721M Substitution - Missense 1:1628507-1628507 + TCGA-06-5415 COSM2153251 c.2113C>T p.R705C Substitution - Missense 1:1628370-1628370 + KPOPBR-40-T COSM5965909 c.434C>G p.P145R Substitution - Missense 1:1623786-1623786 + TCGA-D5-6930-01 COSM5166177 c.1433G>A p.R478H Substitution - Missense 1:1626847-1626847 + SW1463 COSM4655079 c.228C>T p.G76G Substitution - coding silent 1:1623506-1623506 + tumor_4120193 COSM3774410 c.483C>T p.R161R Substitution - coding silent 1:1623835-1623835 + S01578 COSM5670148 c.1995C>T p.A665A Substitution - coding silent 1:1628159-1628159 + TCGA-AC-A23H-01 COSM5203317 c.1102G>A p.D368N Substitution - Missense 1:1625321-1625321 + BD152T COSM5506734 c.1774G>C p.A592P Substitution - Missense 1:1627749-1627749 + S01170 COSM5666935 c.3064G>T p.E1022* Substitution - Nonsense 1:1630381-1630381 + CSCC-56-T COSM4508036 c.592C>T p.P198S Substitution - Missense 1:1623944-1623944 + RMS2032 COSM5880569 c.323G>A p.R108K Substitution - Missense 1:1623430-1623430 + OSCC-GB_01080111 COSM4884485 c.1044C>T p.I348I Substitution - coding silent 1:1625551-1625551 + TCGA-CK-5916-01 COSM5154426 c.729C>T p.H243H Substitution - coding silent 1:1623910-1623910 + TCGA-BR-8363-01 COSM1983180 c.1262G>A p.R421H Substitution - Missense 1:1626847-1626847 + I2L-P8-Tumor-Organoid COSM5353792 c.2909-1G>C p.? Unknown 1:1629638-1629638 + C086 COSM5534549 c.2032C>T p.H678Y Substitution - Missense 1:1628025-1628025 + sysucc-1317T COSM5448205 c.669A>G p.R223R Substitution - coding silent 1:1624870-1624870 + 18 COSM5744648 c.2332G>A p.V778M Substitution - Missense 1:1628507-1628507 + T3090 COSM4702101 c.1772C>T p.T591I Substitution - Missense 1:1627747-1627747 + HCT8 COSM4622155 c.1537C>T p.R513C Substitution - Missense 1:1627196-1627196 + CHC1717T COSM4802119 c.2025+1G>T p.? Unknown 1:1627830-1627830 + B98-Tumor COSM3930431 c.1497G>A p.A499A Substitution - coding silent 1:1627156-1627156 + CSCC-37-T COSM4464861 c.1185C>T p.I395I Substitution - coding silent 1:1626688-1626688 + SC_9008 COSM5556669 c.1782C>T p.H594H Substitution - coding silent 1:1627757-1627757 + J30_T COSM1983225 c.1403G>A p.R468Q Substitution - Missense 1:1626988-1626988 + CRC-06T COSM5456133 c.2229G>A p.P743P Substitution - coding silent 1:1628575-1628575 + TCGA-18-3410-01 COSM675666 c.1275G>T p.V425V Substitution - coding silent 1:1626860-1626860 + PD4076a COSM5787484 c.764+9C>T p.? Unknown 1:1623954-1623954 + 61 COSM5735209 c.526C>T p.R176C Substitution - Missense 1:1623633-1623633 + sysucc-1317T COSM5448204 c.840A>G p.R280R Substitution - coding silent 1:1624870-1624870 + TCGA-CD-8527-01 COSM4023299 c.2406G>A p.A802A Substitution - coding silent 1:1629162-1629162 + RMS2032 COSM5880570 c.152G>A p.R51K Substitution - Missense 1:1623430-1623430 + S02376 COSM5696777 c.682G>T p.E228* Substitution - Nonsense 1:1624883-1624883 + PD13771a COSM5377869 c.1029G>A p.R343R Substitution - coding silent 1:1625419-1625419 + OSCC-GB_00560111 COSM4883752 c.1131G>T p.K377N Substitution - Missense 1:1625350-1625350 + T3724 COSM4702093 c.157C>T p.R53* Substitution - Nonsense 1:1623435-1623435 + TCGA-CG-5733-01 COSM4023182 c.862G>A p.G288S Substitution - Missense 1:1625152-1625152 + TCGA-DA-A3F3-06 COSM3475149 c.987C>T p.V329V Substitution - coding silent 1:1625377-1625377 + TCGA-EB-A430-01 COSM3475191 c.1450C>G p.Q484E Substitution - Missense 1:1627109-1627109 + TCGA-AD-5900-01 COSM5128270 c.1678G>A p.A560T Substitution - Missense 1:1627166-1627166 + S01578 COSM5670147 c.2166C>T p.A722A Substitution - coding silent 1:1628159-1628159 + TCGA-EE-A2A2-06 COSM3475271 c.2124C>G p.A708A Substitution - coding silent 1:1628381-1628381 + GHE0605 COSM5713923 c.3053G>T p.R1018L Substitution - Missense 1:1630370-1630370 + S00938 COSM5663138 c.3185T>A p.I1062N Substitution - Missense 1:1630502-1630502 + HCT15 COSM2211319 c.216G>A p.R72R Substitution - coding silent 1:1623494-1623494 + AOCS-128-1-0 COSM3979896 c.1523A>G p.D508G Substitution - Missense 1:1627182-1627182 + TCGA-CG-5728-01 COSM4023284 c.2087T>C p.L696P Substitution - Missense 1:1628344-1628344 + OSCC-GB_01080111 COSM4884484 c.1215C>T p.I405I Substitution - coding silent 1:1625551-1625551 + T3724 COSM4702099 c.1261C>T p.R421C Substitution - Missense 1:1626846-1626846 + B37-Tumor COSM1747827 c.1339C>T p.P447S Substitution - Missense 1:1626924-1626924 + TCGA-AP-A0LM-01 COSM897116 c.1090C>T p.R364C Substitution - Missense 1:1625597-1625597 + TCGA-DM-A1DA-01 COSM5167665 c.370G>A p.V124M Substitution - Missense 1:1623477-1623477 + TCGA-CH-5745-01 COSM1127351 c.1550T>G p.V517G Substitution - Missense 1:1627297-1627297 + HCC025T COSM5803693 c.1010A>T p.H337L Substitution - Missense 1:1625400-1625400 + TCGA-DA-A3F8-06 COSM3475079 c.139C>T p.P47S Substitution - Missense 1:1623417-1623417 + PD3905a COSM5799529 c.2434G>A p.E812K Substitution - Missense 1:1628609-1628609 + CLL025 COSM1289997 c.2449_2450insA p.A819fs*71 Insertion - Frameshift 1:1629205-1629206 + ccRCC-8 COSM1662760 c.2763C>T p.C921C Substitution - coding silent 1:1629664-1629664 + 46M COSM5588290 c.988C>A p.L330M Substitution - Missense 1:1625378-1625378 + CSCC-40-T COSM4525712 c.1178G>T p.R393L Substitution - Missense 1:1626681-1626681 + BD152T COSM5506733 c.1945G>C p.A649P Substitution - Missense 1:1627749-1627749 + B109-Tumor COSM3930431 c.1497G>A p.A499A Substitution - coding silent 1:1627156-1627156 + TCGA-32-5222-01 COSM3399807 c.1885G>A p.A629T Substitution - Missense 1:1628049-1628049 + LXFL529 COSM1197141 c.696G>T p.Q232H Substitution - Missense 1:1624897-1624897 + CHC1717T COSM4802120 c.1854+1G>T p.? Unknown 1:1627830-1627830 + YUJUBE COSM5377883 c.2339C>T p.A780V Substitution - Missense 1:1628685-1628685 + TCGA-D3-A3MR-06 COSM3475080 c.147C>T p.A49A Substitution - coding silent 1:1623425-1623425 + Pat_41_B COSM4508036 c.592C>T p.P198S Substitution - Missense 1:1623944-1623944 + PTC-515C COSM375286 c.1023C>T p.N341N Substitution - coding silent 1:1625413-1625413 + HCT15 COSM4632558 c.960G>T p.K320N Substitution - Missense 1:1625350-1625350 + LIM2405 COSM4641498 c.2250C>T p.C750C Substitution - coding silent 1:1628596-1628596 + T33 COSM5341603 c.3151G>A p.A1051T Substitution - Missense 1:1630468-1630468 + T3152 COSM4702102 c.2217delG p.L741fs*64 Deletion - Frameshift 1:1628563-1628563 + TCGA-G4-6309-01 COSM1335053 c.2259C>T p.N753N Substitution - coding silent 1:1628605-1628605 + S02376 COSM5696776 c.853G>T p.E285* Substitution - Nonsense 1:1624883-1624883 + B80-Tumor COSM1747828 c.1361G>C p.R454P Substitution - Missense 1:1626946-1626946 + 1006 COSM5730493 c.11C>G p.A4G Substitution - Missense 1:1615470-1615470 + RMS2107 COSM5880981 c.624G>A p.P208P Substitution - coding silent 1:1624825-1624825 + SC_9035 COSM1215065 c.2431G>A p.A811T Substitution - Missense 1:1629187-1629187 + Pat_60_A COSM5843948 c.922G>A p.V308M Substitution - Missense 1:1625312-1625312 + TCGA-D3-A1Q6-06 COSM3475138 c.621C>T p.L207L Substitution - coding silent 1:1624822-1624822 + 8047575 COSM3385256 c.2281A>G p.T761A Substitution - Missense 1:1628627-1628627 + T30 COSM5619207 c.648G>T p.G216G Substitution - coding silent 1:1623829-1623829 + sysucc-1854T COSM5764165 c.2214G>A p.A738A Substitution - coding silent 1:1628300-1628300 + DLD1 COSM2211319 c.216G>A p.R72R Substitution - coding silent 1:1623494-1623494 + SC_9035 COSM5550595 c.2602G>A p.A868T Substitution - Missense 1:1629187-1629187 + Pat_60_A COSM5843947 c.1093G>A p.V365M Substitution - Missense 1:1625312-1625312 + PTC-28C COSM3930431 c.1497G>A p.A499A Substitution - coding silent 1:1627156-1627156 + T30 COSM5619208 c.477G>T p.G159G Substitution - coding silent 1:1623829-1623829 + TCGA-D3-A3C7-06 COSM3475298 c.2797C>T p.R933C Substitution - Missense 1:1629698-1629698 + 587220 COSM1215064 c.199G>A p.V67M Substitution - Missense 1:1623477-1623477 + TCGA-EE-A29P-06 COSM3475147 c.894C>T p.L298L Substitution - coding silent 1:1625184-1625184 + TCGA-CK-5916-01 COSM1334918 c.558C>T p.H186H Substitution - coding silent 1:1623910-1623910 + TCGA-EK-A2RC-01 COSM4848569 c.190G>A p.E64K Substitution - Missense 1:1616523-1616523 + HX12T COSM1600962 c.2163G>A p.V721V Substitution - coding silent 1:1628509-1628509 + TCGA-G4-6586-01 COSM5177919 c.2412C>T p.D804D Substitution - coding silent 1:1628587-1628587 + PCSI_0139_Pa_X COSM3376754 c.1347C>T p.C449C Substitution - coding silent 1:1626932-1626932 + KPOPBR-40-T COSM5965908 c.605C>G p.P202R Substitution - Missense 1:1623786-1623786 + I2L-P8-Tumor-Organoid COSM5353793 c.2738-1G>C p.? Unknown 1:1629638-1629638 + TCGA-BS-A0UV-01 COSM897214 c.1947C>T p.I649I Substitution - coding silent 1:1628111-1628111 + B22 COSM1747829 c.1459G>A p.D487N Substitution - Missense 1:1627118-1627118 + GC_353T-GC_353N COSM4773338 c.1252-5C>T p.? Unknown 1:1626832-1626832 + KM12 COSM4638823 c.1662C>T p.D554D Substitution - coding silent 1:1627409-1627409 + TCGA-D5-6930-01 COSM1983180 c.1262G>A p.R421H Substitution - Missense 1:1626847-1626847 + 19M COSM5578976 c.2954T>A p.V985D Substitution - Missense 1:1629684-1629684 + T3262 COSM4702096 c.493C>T p.R165C Substitution - Missense 1:1623845-1623845 + TCGA-AP-A059-01 COSM897114 c.935G>T p.S312I Substitution - Missense 1:1625325-1625325 + EGC8 COSM240665 c.1324C>T p.R442W Substitution - Missense 1:1626909-1626909 + TCGA-FW-A3R5-06 COSM3862961 c.1332C>T p.T444T Substitution - coding silent 1:1626917-1626917 + TCGA-EK-A2RC-01 COSM4848570 c.19G>A p.E7K Substitution - Missense 1:1616523-1616523 + TCGA-EB-A5UN-06 COSM3475210 c.1769G>A p.S590N Substitution - Missense 1:1627744-1627744 + S02285 COSM5684308 c.329G>T p.R110L Substitution - Missense 1:1623436-1623436 + TCGA-E2-A1LG-01 COSM5229211 c.2937C>G p.I979M Substitution - Missense 1:1629667-1629667 + GC_296T1-GC_296N COSM4772088 c.73T>A p.S25T Substitution - Missense 1:1615532-1615532 + TCGA-E1-5302-01 COSM3965879 c.1833C>T p.R611R Substitution - coding silent 1:1627808-1627808 + sysucc-1854T COSM897217 c.2043G>A p.A681A Substitution - coding silent 1:1628300-1628300 + TCGA-DH-5141-01 COSM3965873 c.959A>G p.K320R Substitution - Missense 1:1625349-1625349 + HCT15 COSM4622155 c.1537C>T p.R513C Substitution - Missense 1:1627196-1627196 + SW403 COSM4222548 c.1062G>T p.V354V Substitution - coding silent 1:1625569-1625569 + ESO-859 COSM1239434 c.992G>A p.R331Q Substitution - Missense 1:1625382-1625382 + TCGA-E2-A1LG-01 COSM3802210 c.2766C>G p.I922M Substitution - Missense 1:1629667-1629667 + PTC-53C COSM4142836 c.2054T>G p.V685G Substitution - Missense 1:1628311-1628311 + TCGA-GF-A6C9-06 COSM4900050 c.143C>T p.S48F Substitution - Missense 1:1623421-1623421 + UM-SCC-4 COSM4599811 c.12G>T p.K4N Substitution - Missense 1:1616516-1616516 + CSCC-49-T COSM4540030 c.2607G>A p.G869G Substitution - coding silent 1:1629436-1629436 + CHC1717T COSM4802119 c.2025+1G>T p.? Unknown 1:1627830-1627830 + PR-02-254 COSM245676 c.668G>A p.R223Q Substitution - Missense 1:1624869-1624869 + SC_9081 COSM5555323 c.1186G>A p.G396S Substitution - Missense 1:1625405-1625405 + TCGA-G4-6309-01 COSM5176245 c.2430C>T p.N810N Substitution - coding silent 1:1628605-1628605 + LUAD-E01278 COSM394198 c.1149C>T p.H383H Substitution - coding silent 1:1626652-1626652 + ESO-118 COSM1257696 c.2161G>A p.V721M Substitution - Missense 1:1628507-1628507 + TCGA-AD-5900-01 COSM1335031 c.1507G>A p.A503T Substitution - Missense 1:1627166-1627166 + YUJUBE COSM5377882 c.2510C>T p.A837V Substitution - Missense 1:1628685-1628685 + S02285 COSM5684309 c.158G>T p.R53L Substitution - Missense 1:1623436-1623436 + TCGA-06-5415-01 COSM2153251 c.2113C>T p.R705C Substitution - Missense 1:1628370-1628370 + TCGA-EJ-A65M-01 COSM4392402 c.761G>A p.R254Q Substitution - Missense 1:1625051-1625051 + LUAD-NYU608 COSM375286 c.1023C>T p.N341N Substitution - coding silent 1:1625413-1625413 + Pat_41_B COSM5843965 c.1771G>A p.G591S Substitution - Missense 1:1627347-1627347 + BCM339T COSM4802482 c.2085G>A p.A695A Substitution - coding silent 1:1628342-1628342 + TCGA-ER-A193-06 COSM3475104 c.565G>A p.D189N Substitution - Missense 1:1623917-1623917 + T3118 COSM4702094 c.225C>T p.R75R Substitution - coding silent 1:1623503-1623503 + PDA_100 COSM5003513 c.3011_3012insA p.I1005fs*>10 Insertion - Frameshift 1:1630499-1630500 + S01542 COSM5669432 c.296G>A p.R99H Substitution - Missense 1:1623574-1623574 + 8061105 COSM3385264 c.2812G>T p.E938* Substitution - Nonsense 1:1630300-1630300 + OSCC-GB_00140111 COSM3711162 c.1678C>A p.L560M Substitution - Missense 1:1627425-1627425 + TCGA-CG-5726-01 COSM4023135 c.559G>A p.A187T Substitution - Missense 1:1623911-1623911 + S01170 COSM5666936 c.2893G>T p.E965* Substitution - Nonsense 1:1630381-1630381 + TCGA-BS-A0U7-01 COSM897208 c.1896G>A p.A632A Substitution - coding silent 1:1628060-1628060 + YUROG COSM5377863 c.681G>A p.W227* Substitution - Nonsense 1:1624882-1624882 + TCGA-A6-6781-01 COSM1335056 c.2691G>A p.A897A Substitution - coding silent 1:1629520-1629520 + BD165T COSM5506587 c.2909-10C>A p.? Unknown 1:1629629-1629629 + MD-319 COSM302639 c.1387G>T p.V463L Substitution - Missense 1:1626972-1626972 + CSCC-54-T COSM4511970 c.716C>T p.P239L Substitution - Missense 1:1625006-1625006 + 19M COSM5578977 c.2783T>A p.V928D Substitution - Missense 1:1629684-1629684 + TCGA-ED-A7PZ-01 COSM4916747 c.1144A>T p.K382* Substitution - Nonsense 1:1625651-1625651 + T84 COSM4656758 c.2347G>C p.D783H Substitution - Missense 1:1628693-1628693 + TCGA-BS-A0UF-01 COSM897217 c.2043G>A p.A681A Substitution - coding silent 1:1628300-1628300 + TCGA-F1-6177-01 COSM897113 c.857C>T p.A286V Substitution - Missense 1:1625147-1625147 + TCGA-FS-A4F9-06 COSM3475148 c.970C>T p.L324L Substitution - coding silent 1:1625360-1625360 + TCGA-D1-A17D-01 COSM897068 c.245G>A p.G82D Substitution - Missense 1:1623523-1623523 + CAL33 COSM4594210 c.1073C>T p.T358M Substitution - Missense 1:1625580-1625580 + GHE0605 COSM5713924 c.2882G>T p.R961L Substitution - Missense 1:1630370-1630370 + SNU-C2B COSM2211306 c.195G>A p.A65A Substitution - coding silent 1:1623473-1623473 + T368 COSM4702098 c.660G>T p.K220N Substitution - Missense 1:1624861-1624861 + TCGA-A6-6780-01 COSM1241432 c.2341delG p.D783fs*22 Deletion - Frameshift 1:1628687-1628687 + PD13771a COSM5377868 c.1200G>A p.R400R Substitution - coding silent 1:1625419-1625419 + TCGA-AC-A23H-01 COSM3802185 c.931G>A p.D311N Substitution - Missense 1:1625321-1625321 + 61 COSM5735210 c.355C>T p.R119C Substitution - Missense 1:1623633-1623633 + PDA_054 COSM5000821 c.893G>A p.R298H Substitution - Missense 1:1625012-1625012 + TCGA-AX-A0IS-01 COSM897113 c.857C>T p.A286V Substitution - Missense 1:1625147-1625147 + PDA_054 COSM5000822 c.722G>A p.R241H Substitution - Missense 1:1625012-1625012 + RD COSM1197141 c.696G>T p.Q232H Substitution - Missense 1:1624897-1624897 + BCM339T COSM4802481 c.2256G>A p.A752A Substitution - coding silent 1:1628342-1628342 + 46M COSM5588289 c.1159C>A p.L387M Substitution - Missense 1:1625378-1625378 + TCGA-GF-A6C9-06 COSM4900049 c.314C>T p.S105F Substitution - Missense 1:1623421-1623421 + PTC-7C COSM4142786 c.43T>C p.F15L Substitution - Missense 1:1616547-1616547 + SNU-175 COSM4650236 c.2542G>A p.A848T Substitution - Missense 1:1629298-1629298 + TCGA-FD-A3SN-01 COSM3788825 c.2217G>A p.V739V Substitution - coding silent 1:1628563-1628563 + SS6003149 COSM4127578 c.2829C>A p.A943A Substitution - coding silent 1:1630317-1630317 + CRC-06T COSM5456132 c.2400G>A p.P800P Substitution - coding silent 1:1628575-1628575 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.135789;Hs.135805 1p36.33 611141 Hs.593429;Hs.593430 1p36.33 611141

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - A Frameshift p.A876Rfs*71 c.2621dupA 1 1564586 CLL A G Missense p.K377R c.1130A>G 1 1560729 LGG A T Missense p.I205F c.613A>T 1 1559174 LUAD C G Missense p.P358R c.1073C>G 1 1560672 CM C G Missense p.Q828E c.2482C>G 1 1564037 BLCA C G Synonymous p.A765A c.2295C>G 1 1563761 CM C G Synonymous p.L1052L c.3156C>G 1 1565853 LUAD C T IntronicSNV . c.1868+20C>T 1 1562844 CM C T IntronicSNV . c.2314-32C>T 1 1563837 CM C T IntronicSNV . c.872-6C>T 1 1560365 CM C T Missense p.A343V c.1028C>T 1 1560527 STAD C T Missense p.A343V c.1028C>T 1 1560527 UCEC C T Missense p.P104S c.310C>T 1 1558797 CM C T Missense p.P202L c.605C>T 1 1559166 UCEC C T Missense p.P353S c.1057C>T 1 1560556 CM C T Missense p.R663W c.1987C>T 1 1563171 UCEC C T Missense p.R762C c.2284C>T 1 1563750 GBM C T Missense p.R990C c.2968C>T 1 1565078 CM C T Missense p.S685F c.2054C>T 1 1563427 CM C T Synonymous p.A106A c.318C>T 1 1558805 CM C T Synonymous p.F346F c.1038C>T 1 1560537 LUAD C T Synonymous p.L264L c.792C>T 1 1560202 CM C T Synonymous p.L355L c.1065C>T 1 1560564 CM C T Synonymous p.L789L c.2367C>T 1 1563922 CM C T Synonymous p.R668R c.2004C>T 1 1563188 LGG C T Synonymous p.V386V c.1158C>T 1 1560757 CM G A IntronicSNV . c.281+171G>A 1 1552165 MB G A Missense p.A242T c.724G>A 1 1559285 STAD G A Missense p.A244T c.730G>A 1 1559291 STAD G A Missense p.A686T c.2056G>A 1 1563429 GBM G A Missense p.D246N c.736G>A 1 1559297 CM G A Missense p.D775N c.2323G>A 1 1563878 LUAD G A Missense p.E554K c.1660G>A 1 1562528 CM G A Missense p.G139D c.416G>A 1 1558903 UCEC G A Missense p.G345S c.1033G>A 1 1560532 STAD G A Missense p.R311Q c.932G>A 1 1560431 CM G A Missense p.R311Q c.932G>A 1 1560431 PRAD G A Missense p.R388Q c.1163G>A 1 1560762 ESCA G A Missense p.V654M c.1960G>A 1 1563144 CM G A Missense p.V778M c.2332G>A 1 1563887 ESCA G A Synonymous p.A689A c.2067G>A 1 1563440 UCEC G A Synonymous p.L590L c.1770G>A 1 1562726 CM G A Synonymous p.V662V c.1986G>A 1 1563170 UCEC G C IntronicSNV . c.764+21G>C 1 1559346 CM G C Synonymous p.T615T c.1845G>C 1 1562801 HNSC GG TT Missense p.R562L c.1685_1686delinsTT 1 1562553 LUAD G T Missense p.R737L c.2210G>T 1 1563676 SCLC G T Missense p.V520L c.1558G>T 1 1562352 MB G T Synonymous p.V482V c.1446G>T 1 1562240 LUSC TCCTCACGGAGGTGCCAAACATCGATGTT - Frameshift p.V699Dfs*67 c.2096_2124delTCCTCACGGAGGTGCCAAACATCGATGTT 1 1563469 BRCA T C Missense p.L753P c.2258T>C 1 1563724 STAD