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 19 16495955 16495955 + Silent SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr19:16495955G>A c.2232C>T c.(2230-2232)ttC>ttT p.F744F BLCA 19 16514635 16514648 + Frame_Shift_Del DEL TCCTCCTGCTGCAA TCCTCCTGCTGCAA - TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr19:16514635_16514648delTCCTCCTGCTGCAA c.1522_1535delTTGCAGCAGGAGGA c.(1522-1536)ttgcagcaggaggaafs p.LQQEE508fs BLCA 19 16515491 16515491 + Missense_Mutation SNP G G C TCGA-DK-AA6R-01A-11D-A42E-08 TCGA-DK-AA6R-10A-01D-A42H-08 g.chr19:16515491G>C c.1336C>G c.(1336-1338)Caa>Gaa p.Q446E BLCA 19 16528407 16528407 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr19:16528407C>T c.1149G>A c.(1147-1149)gtG>gtA p.V383V BLCA 19 16528781 16528781 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 g.chr19:16528781G>A c.1085C>T c.(1084-1086)tCg>tTg p.S362L BLCA 19 16532171 16532171 + Silent SNP G G A TCGA-DK-A1AG-01A-11D-A13W-08 TCGA-DK-A1AG-10A-01D-A13W-08 g.chr19:16532171G>A c.909C>T c.(907-909)ttC>ttT p.F303F BLCA 19 16532279 16532279 + Silent SNP C C T TCGA-XF-A9SJ-01A-11D-A391-08 TCGA-XF-A9SJ-10A-01D-A394-08 g.chr19:16532279C>T c.801G>A c.(799-801)gtG>gtA p.V267V BLCA 19 16535906 16535906 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr19:16535906G>A c.780C>T c.(778-780)ctC>ctT p.L260L BLCA 19 16545237 16545237 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr19:16545237G>A c.437C>T c.(436-438)tCt>tTt p.S146F BLCA 19 16547773 16547773 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr19:16547773G>C c.347C>G c.(346-348)tCt>tGt p.S116C BLCA 19 16551699 16551699 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr19:16551699C>T c.187G>A c.(187-189)Gaa>Aaa p.E63K BLCA 19 16552747 16552747 + Missense_Mutation SNP G G A TCGA-GD-A2C5-01A-12D-A17V-08 TCGA-GD-A2C5-10A-01D-A17V-08 g.chr19:16552747G>A c.121C>T c.(121-123)Ctt>Ttt p.L41F BRCA 19 16514562 16514562 + Silent SNP C C T TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 g.chr19:16514562C>T c.1608G>A c.(1606-1608)acG>acA p.T536T BRCA 19 16528437 16528437 + Silent SNP G G A TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 g.chr19:16528437G>A c.1119C>T c.(1117-1119)ggC>ggT p.G373G BRCA 19 16528786 16528786 + Silent SNP C C T TCGA-AO-A0J4-01A-11W-A050-09 TCGA-AO-A0J4-10A-01W-A055-09 g.chr19:16528786C>T c.1080G>A c.(1078-1080)ccG>ccA p.P360P BRCA 19 16528799 16528799 + Missense_Mutation SNP G G C TCGA-A1-A0SN-01A-11D-A142-09 TCGA-A1-A0SN-10B-01D-A142-09 g.chr19:16528799G>C c.1067C>G c.(1066-1068)cCg>cGg p.P356R BRCA 19 16548608 16548608 + Silent SNP C C T TCGA-GM-A2DO-01A-11D-A19Y-09 TCGA-GM-A2DO-10D-01D-A18P-09 g.chr19:16548608C>T c.282G>A c.(280-282)ctG>ctA p.L94L CESC 19 16524625 16524625 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 g.chr19:16524625C>T c.1225G>A c.(1225-1227)Gaa>Aaa p.E409K COAD 19 16497040 16497040 + Silent SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr19:16497040G>A c.2106C>T c.(2104-2106)ctC>ctT p.L702L COAD 19 16514555 16514555 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr19:16514555C>T c.1615G>A c.(1615-1617)Gaa>Aaa p.E539K COAD 19 16515539 16515539 + Missense_Mutation SNP G G A TCGA-D5-6926-01A-11D-1924-10 TCGA-D5-6926-10A-01D-1924-10 g.chr19:16515539G>A c.1288C>T c.(1288-1290)Cgg>Tgg p.R430W COAD 19 16515539 16515539 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr19:16515539G>A c.1288C>T c.(1288-1290)Cgg>Tgg p.R430W COAD 19 16528906 16528906 + Silent SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr19:16528906G>A c.960C>T c.(958-960)gcC>gcT p.A320A COAD 19 16535994 16535994 + Frame_Shift_Del DEL G G - TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr19:16535994delG c.692delC c.(691-693)ccafs p.P232fs COAD 19 16536012 16536012 + Missense_Mutation SNP A A G TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr19:16536012A>G c.674T>C c.(673-675)gTc>gCc p.V225A COAD 19 16536023 16536023 + Silent SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr19:16536023G>A c.663C>T c.(661-663)ggC>ggT p.G221G COADREAD 19 16472601 16472601 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr19:16472601C>A c.2575G>T c.(2575-2577)Gac>Tac p.D859Y COADREAD 19 16497040 16497040 + Silent SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr19:16497040G>A c.2106C>T c.(2104-2106)ctC>ctT p.L702L COADREAD 19 16513194 16513194 + Missense_Mutation SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr19:16513194T>C c.1729A>G c.(1729-1731)Acc>Gcc p.T577A COADREAD 19 16514555 16514555 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr19:16514555C>T c.1615G>A c.(1615-1617)Gaa>Aaa p.E539K COADREAD 19 16515539 16515539 + Missense_Mutation SNP G G A TCGA-D5-6926-01A-11D-1924-10 TCGA-D5-6926-10A-01D-1924-10 g.chr19:16515539G>A c.1288C>T c.(1288-1290)Cgg>Tgg p.R430W COADREAD 19 16515539 16515539 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr19:16515539G>A c.1288C>T c.(1288-1290)Cgg>Tgg p.R430W COADREAD 19 16528906 16528906 + Silent SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr19:16528906G>A c.960C>T c.(958-960)gcC>gcT p.A320A COADREAD 19 16535994 16535994 + Frame_Shift_Del DEL G G - TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr19:16535994delG c.692delC c.(691-693)ccafs p.P232fs COADREAD 19 16536012 16536012 + Missense_Mutation SNP A A G TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr19:16536012A>G c.674T>C c.(673-675)gTc>gCc p.V225A COADREAD 19 16536023 16536023 + Silent SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr19:16536023G>A c.663C>T c.(661-663)ggC>ggT p.G221G ESCA 19 16472690 16472690 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr19:16472690delT c.2486delA c.(2485-2487)aagfs p.K829fs ESCA 19 16472781 16472781 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 g.chr19:16472781C>T c.2395G>A c.(2395-2397)Gta>Ata p.V799I ESCA 19 16506198 16506198 + Missense_Mutation SNP G G C TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 g.chr19:16506198G>C c.1872C>G c.(1870-1872)gaC>gaG p.D624E ESCA 19 16528891 16528891 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 g.chr19:16528891C>T c.975G>A c.(973-975)acG>acA p.T325T ESCA 19 16536019 16536019 + Missense_Mutation SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 g.chr19:16536019C>T c.667G>A c.(667-669)Gtc>Atc p.V223I ESCA 19 16552786 16552786 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 g.chr19:16552786G>T c.82C>A c.(82-84)Ccg>Acg p.P28T GBM 19 16515514 16515514 + Missense_Mutation SNP A A G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 g.chr19:16515514A>G c.1313T>C c.(1312-1314)cTc>cCc p.L438P GBM 19 16528878 16528878 + Missense_Mutation SNP T T C TCGA-06-6390-01A-11D-1696-08 TCGA-06-6390-10A-01D-1696-08 g.chr19:16528878T>C c.988A>G c.(988-990)Aaa>Gaa p.K330E GBMLGG 19 16487940 16487940 + Silent SNP C C T TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 g.chr19:16487940C>T c.2373G>A c.(2371-2373)ccG>ccA p.P791P GBMLGG 19 16515514 16515514 + Missense_Mutation SNP A A G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 g.chr19:16515514A>G c.1313T>C c.(1312-1314)cTc>cCc p.L438P GBMLGG 19 16528878 16528878 + Missense_Mutation SNP T T C TCGA-06-6390-01A-11D-1696-08 TCGA-06-6390-10A-01D-1696-08 g.chr19:16528878T>C c.988A>G c.(988-990)Aaa>Gaa p.K330E HNSC 19 16514682 16514682 + Silent SNP G G A TCGA-IQ-A61J-01A-11D-A30E-08 TCGA-IQ-A61J-10A-01D-A30H-08 g.chr19:16514682G>A c.1488C>T c.(1486-1488)gaC>gaT p.D496D HNSC 19 16514739 16514739 + Missense_Mutation SNP G G C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 g.chr19:16514739G>C c.1431C>G c.(1429-1431)atC>atG p.I477M HNSC 19 16515513 16515513 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr19:16515513G>A c.1314C>T c.(1312-1314)ctC>ctT p.L438L HNSC 19 16528778 16528785 + Frame_Shift_Del DEL TCCGAAGG TCCGAAGG - TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 g.chr19:16528778_16528785delTCCGAAGG c.1081_1088delCCTTCGGA c.(1081-1089)ccttcggagfs p.PSE361fs HNSC 19 16528779 16528779 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 g.chr19:16528779C>T c.1087G>A c.(1087-1089)Gag>Aag p.E363K HNSC 19 16528864 16528864 + Silent SNP C C A TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 g.chr19:16528864C>A c.1002G>T c.(1000-1002)gcG>gcT p.A334A HNSC 19 16532206 16532206 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 g.chr19:16532206C>A c.874G>T c.(874-876)Ggc>Tgc p.G292C HNSC 19 16536088 16536088 + Missense_Mutation SNP C C T TCGA-IQ-A61E-01A-22D-A30E-08 TCGA-IQ-A61E-10A-01D-A30H-08 g.chr19:16536088C>T c.598G>A c.(598-600)Gtg>Atg p.V200M HNSC 19 16547765 16547765 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr19:16547765C>T c.355G>A c.(355-357)Gcc>Acc p.A119T HNSC 19 16552783 16552783 + Missense_Mutation SNP C C T TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 g.chr19:16552783C>T c.85G>A c.(85-87)Gca>Aca p.A29T KICH 19 16513266 16513266 + Missense_Mutation SNP T T C TCGA-KL-8333-01A-11D-2310-10 TCGA-KL-8333-11A-01D-2310-10 g.chr19:16513266T>C c.1657A>G c.(1657-1659)Agc>Ggc p.S553G KIPAN 19 16503123 16503124 + Missense_Mutation DNP GT GT AA TCGA-BQ-7044-01A-11D-1961-08 TCGA-BQ-7044-11A-01D-1961-08 g.chr19:16503123_16503124GT>AA c.2094_2095AC>TT c.(2092-2097)ttACct>ttTTct p.698_699LP>FS KIPAN 19 16513266 16513266 + Missense_Mutation SNP T T C TCGA-KL-8333-01A-11D-2310-10 TCGA-KL-8333-11A-01D-2310-10 g.chr19:16513266T>C c.1657A>G c.(1657-1659)Agc>Ggc p.S553G KIPAN 19 16513268 16513268 + Missense_Mutation SNP T T C TCGA-B9-5155-01A-01D-1589-08 TCGA-B9-5155-10A-01D-1589-08 g.chr19:16513268T>C c.1655A>G c.(1654-1656)gAa>gGa p.E552G KIPAN 19 16528867 16528867 + Silent SNP G G A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 g.chr19:16528867G>A c.999C>T c.(997-999)ttC>ttT p.F333F KIPAN 19 16535940 16535940 + Missense_Mutation SNP T T C TCGA-B0-5097-01A-01D-1421-08 TCGA-B0-5097-11A-01D-1421-08 g.chr19:16535940T>C c.746A>G c.(745-747)aAc>aGc p.N249S KIPAN 19 16536069 16536069 + Missense_Mutation SNP G G A TCGA-BP-4986-01A-01D-1462-08 TCGA-BP-4986-11A-01D-1462-08 g.chr19:16536069G>A c.617C>T c.(616-618)cCg>cTg p.P206L KIPAN 19 16539554 16539554 + Missense_Mutation SNP T T A TCGA-A3-3313-01A-01D-0966-08 TCGA-A3-3313-11A-01D-0966-08 g.chr19:16539554T>A c.517A>T c.(517-519)Att>Ttt p.I173F KIPAN 19 16545212 16545214 + In_Frame_Del DEL GAG GAG - TCGA-IA-A83T-01A-11D-A34Z-10 TCGA-IA-A83T-11A-11D-A34Z-10 g.chr19:16545212_16545214delGAG c.460_462delCTC c.(460-462)ctcdel p.L154del KIPAN 19 16547765 16547765 + Missense_Mutation SNP C C A TCGA-BP-4341-01A-01D-1366-10 TCGA-BP-4341-11A-01D-1366-10 g.chr19:16547765C>A c.355G>T c.(355-357)Gcc>Tcc p.A119S KIPAN 19 16548668 16548669 + Frame_Shift_Del DEL AT AT - TCGA-B9-A44B-01A-11D-A25F-10 TCGA-B9-A44B-10A-01D-A25F-10 g.chr19:16548668_16548669delAT c.221_222delAT c.(220-222)tatfs p.Y74fs KIPAN 19 16551694 16551694 + Silent SNP A A G TCGA-BQ-7044-01A-11D-1961-08 TCGA-BQ-7044-11A-01D-1961-08 g.chr19:16551694A>G c.192T>C c.(190-192)ggT>ggC p.G64G KIPAN 19 16552710 16552710 + Missense_Mutation SNP A A C TCGA-BP-4330-01A-01D-1366-10 TCGA-BP-4330-11A-01D-1366-10 g.chr19:16552710A>C c.158T>G c.(157-159)cTt>cGt p.L53R KIRC 19 16528867 16528867 + Silent SNP G G A TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 g.chr19:16528867G>A c.999C>T c.(997-999)ttC>ttT p.F333F KIRC 19 16535940 16535940 + Missense_Mutation SNP T T C TCGA-B0-5097-01A-01D-1421-08 TCGA-B0-5097-11A-01D-1421-08 g.chr19:16535940T>C c.746A>G c.(745-747)aAc>aGc p.N249S KIRC 19 16536069 16536069 + Missense_Mutation SNP G G A TCGA-BP-4986-01A-01D-1462-08 TCGA-BP-4986-11A-01D-1462-08 g.chr19:16536069G>A c.617C>T c.(616-618)cCg>cTg p.P206L KIRC 19 16539554 16539554 + Missense_Mutation SNP T T A TCGA-A3-3313-01A-01D-0966-08 TCGA-A3-3313-11A-01D-0966-08 g.chr19:16539554T>A c.517A>T c.(517-519)Att>Ttt p.I173F KIRC 19 16547765 16547765 + Missense_Mutation SNP C C A TCGA-BP-4341-01A-01D-1366-10 TCGA-BP-4341-11A-01D-1366-10 g.chr19:16547765C>A c.355G>T c.(355-357)Gcc>Tcc p.A119S KIRC 19 16552710 16552710 + Missense_Mutation SNP A A C TCGA-BP-4330-01A-01D-1366-10 TCGA-BP-4330-11A-01D-1366-10 g.chr19:16552710A>C c.158T>G c.(157-159)cTt>cGt p.L53R KIRP 19 16503123 16503124 + Missense_Mutation DNP GT GT AA TCGA-BQ-7044-01A-11D-1961-08 TCGA-BQ-7044-11A-01D-1961-08 g.chr19:16503123_16503124GT>AA c.2094_2095AC>TT c.(2092-2097)ttACct>ttTTct p.698_699LP>FS KIRP 19 16513268 16513268 + Missense_Mutation SNP T T C TCGA-B9-5155-01A-01D-1589-08 TCGA-B9-5155-10A-01D-1589-08 g.chr19:16513268T>C c.1655A>G c.(1654-1656)gAa>gGa p.E552G KIRP 19 16545212 16545214 + In_Frame_Del DEL GAG GAG - TCGA-IA-A83T-01A-11D-A34Z-10 TCGA-IA-A83T-11A-11D-A34Z-10 g.chr19:16545212_16545214delGAG c.460_462delCTC c.(460-462)ctcdel p.L154del KIRP 19 16548668 16548669 + Frame_Shift_Del DEL AT AT - TCGA-B9-A44B-01A-11D-A25F-10 TCGA-B9-A44B-10A-01D-A25F-10 g.chr19:16548668_16548669delAT c.221_222delAT c.(220-222)tatfs p.Y74fs KIRP 19 16551694 16551694 + Silent SNP A A G TCGA-BQ-7044-01A-11D-1961-08 TCGA-BQ-7044-11A-01D-1961-08 g.chr19:16551694A>G c.192T>C c.(190-192)ggT>ggC p.G64G LGG 19 16487940 16487940 + Silent SNP C C T TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 g.chr19:16487940C>T c.2373G>A c.(2371-2373)ccG>ccA p.P791P LIHC 19 16488025 16488025 + Missense_Mutation SNP G G A TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr19:16488025G>A c.2288C>T c.(2287-2289)gCa>gTa p.A763V LIHC 19 16513229 16513229 + Missense_Mutation SNP T T C TCGA-CC-A3MA-01A-11D-A20W-10 TCGA-CC-A3MA-10A-01D-A20W-10 g.chr19:16513229T>C c.1694A>G c.(1693-1695)gAc>gGc p.D565G LIHC 19 16524615 16524615 + Missense_Mutation SNP T T C TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr19:16524615T>C c.1235A>G c.(1234-1236)gAg>gGg p.E412G LUAD 19 16472709 16472709 + Missense_Mutation SNP C C A TCGA-17-Z050-01A-01W-0747-08 TCGA-17-Z050-11A-01W-0747-08 g.chr19:16472709C>A c.2467G>T c.(2467-2469)Gac>Tac p.D823Y LUAD 19 16487937 16487937 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr19:16487937G>C c.2376C>G c.(2374-2376)ccC>ccG p.P792P LUAD 19 16503150 16503150 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chr19:16503150C>A c.2068G>T c.(2068-2070)Gat>Tat p.D690Y LUAD 19 16504811 16504811 + Splice_Site SNP G G A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 g.chr19:16504811G>A c.1917C>T c.(1915-1917)ggC>ggT p.G639G LUAD 19 16513280 16513280 + Missense_Mutation SNP G G A TCGA-44-6144-01A-11D-1753-08 TCGA-44-6144-10A-01D-1753-08 g.chr19:16513280G>A c.1643C>T c.(1642-1644)tCc>tTc p.S548F LUAD 19 16514615 16514615 + Missense_Mutation SNP T T G TCGA-MN-A4N1-01A-11D-A24P-08 TCGA-MN-A4N1-10A-01D-A24P-08 g.chr19:16514615T>G c.1555A>C c.(1555-1557)Att>Ctt p.I519L LUAD 19 16515465 16515465 + Silent SNP C C T TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr19:16515465C>T c.1362G>A c.(1360-1362)caG>caA p.Q454Q LUAD 19 16528760 16528760 + Splice_Site SNP G G A TCGA-64-5779-01A-01D-1625-08 TCGA-64-5779-10A-01D-1625-08 g.chr19:16528760G>A c.1106C>T c.(1105-1107)cCg>cTg p.P369L LUAD 19 16535930 16535930 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chr19:16535930C>A c.756G>T c.(754-756)ggG>ggT p.G252G LUAD 19 16539513 16539513 + Splice_Site SNP C C A TCGA-95-7562-01A-11D-2238-08 TCGA-95-7562-10B-01D-2238-08 g.chr19:16539513C>A c.558G>T c.(556-558)gtG>gtT p.V186V LUAD 19 16548580 16548580 + Splice_Site SNP C C T TCGA-49-4512-01A-21D-1855-08 TCGA-49-4512-11A-01D-1855-08 g.chr19:16548580C>T c.e5+1 LUAD 19 16548592 16548592 + Missense_Mutation SNP G G A TCGA-50-5066-01A-01D-1625-08 TCGA-50-5066-10A-01D-1625-08 g.chr19:16548592G>A c.298C>T c.(298-300)Ccg>Tcg p.P100S LUSC 19 16506271 16506271 + Missense_Mutation SNP G G C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 g.chr19:16506271G>C c.1799C>G c.(1798-1800)cCt>cGt p.P600R LUSC 19 16514640 16514640 + Silent SNP C C T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 g.chr19:16514640C>T c.1530G>A c.(1528-1530)caG>caA p.Q510Q LUSC 19 16535895 16535895 + Splice_Site SNP T T C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 g.chr19:16535895T>C c.791A>G c.(790-792)cAg>cGg p.Q264R OV 19 16472718 16472718 + Missense_Mutation SNP C C G TCGA-04-1361-01A-01W-0494-09 TCGA-04-1361-11A-01W-0494-09 g.chr19:16472718C>G c.2458G>C c.(2458-2460)Gac>Cac p.D820H OV 19 16495995 16495995 + Missense_Mutation SNP C C G TCGA-23-1123-01A-01W-0488-09 TCGA-23-1123-10A-01W-0488-09 g.chr19:16495995C>G c.2192G>C c.(2191-2193)gGa>gCa p.G731A OV 19 16528758 16528758 + Splice_Site SNP C C A TCGA-24-0979-01A-01W-0486-08 TCGA-24-0979-10B-01W-0486-08 g.chr19:16528758C>A c.e11+1 OV 19 16545258 16545258 + Missense_Mutation SNP A A G TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 g.chr19:16545258A>G c.416T>C c.(415-417)tTg>tCg p.L139S OV 19 16552784 16552784 + Silent SNP C C T TCGA-24-1850-01A-01W-0639-09 TCGA-24-1850-10A-01W-0639-09 g.chr19:16552784C>T c.84G>A c.(82-84)ccG>ccA p.P28P OV 19 16552987 16552987 + Splice_Site SNP A A G TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 g.chr19:16552987A>G c.e2+1 PAAD 19 16551706 16551706 + Silent SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 g.chr19:16551706G>A c.180C>T c.(178-180)gcC>gcT p.A60A PRAD 19 16514562 16514562 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr19:16514562C>T c.1608G>A c.(1606-1608)acG>acA p.T536T READ 19 16472601 16472601 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr19:16472601C>A c.2575G>T c.(2575-2577)Gac>Tac p.D859Y READ 19 16513194 16513194 + Missense_Mutation SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr19:16513194T>C c.1729A>G c.(1729-1731)Acc>Gcc p.T577A SARC 19 16536019 16536019 + Missense_Mutation SNP C C T TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 g.chr19:16536019C>T c.667G>A c.(667-669)Gtc>Atc p.V223I SARC 19 16539564 16539564 + Missense_Mutation SNP G G C TCGA-3B-A9HY-01A-11D-A38Z-09 TCGA-3B-A9HY-10A-01D-A38Z-09 g.chr19:16539564G>C c.507C>G c.(505-507)gaC>gaG p.D169E SKCM 19 16472729 16472729 + Missense_Mutation SNP G G A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 g.chr19:16472729G>A c.2447C>T c.(2446-2448)cCa>cTa p.P816L SKCM 19 16472743 16472743 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr19:16472743G>A c.2433C>T c.(2431-2433)ccC>ccT p.P811P SKCM 19 16488050 16488050 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 g.chr19:16488050G>A c.2263C>T c.(2263-2265)Cct>Tct p.P755S SKCM 19 16496008 16496008 + Silent SNP A A G TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr19:16496008A>G c.2179T>C c.(2179-2181)Tta>Cta p.L727L SKCM 19 16496019 16496019 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr19:16496019G>A c.2168C>T c.(2167-2169)cCc>cTc p.P723L SKCM 19 16496019 16496019 + Missense_Mutation SNP G G A TCGA-ER-A19J-06A-11D-A196-08 TCGA-ER-A19J-10A-01D-A198-08 g.chr19:16496019G>A c.2168C>T c.(2167-2169)cCc>cTc p.P723L SKCM 19 16503152 16503152 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr19:16503152G>A c.2066C>T c.(2065-2067)tCg>tTg p.S689L SKCM 19 16513163 16513163 + Missense_Mutation SNP G G A TCGA-DA-A3F5-06A-11D-A20D-08 TCGA-DA-A3F5-10A-01D-A20D-08 g.chr19:16513163G>A c.1760C>T c.(1759-1761)tCc>tTc p.S587F SKCM 19 16514715 16514715 + Silent SNP T T C TCGA-EE-A2A5-06A-11D-A197-08 TCGA-EE-A2A5-10A-01D-A199-08 g.chr19:16514715T>C c.1455A>G c.(1453-1455)caA>caG p.Q485Q SKCM 19 16528446 16528446 + Silent SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 g.chr19:16528446G>A c.1110C>T c.(1108-1110)gaC>gaT p.D370D SKCM 19 16528870 16528870 + Missense_Mutation SNP T T G TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr19:16528870T>G c.996A>C c.(994-996)caA>caC p.Q332H SKCM 19 16535919 16535919 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr19:16535919G>A c.767C>T c.(766-768)cCc>cTc p.P256L SKCM 19 16535920 16535920 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr19:16535920G>A c.766C>T c.(766-768)Ccc>Tcc p.P256S SKCM 19 16536010 16536010 + Silent SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr19:16536010G>A c.676C>T c.(676-678)Ctg>Ttg p.L226L SKCM 19 16545262 16545262 + Missense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr19:16545262G>A c.412C>T c.(412-414)Ctc>Ttc p.L138F SKCM 19 16545263 16545263 + Silent SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr19:16545263G>A c.411C>T c.(409-411)agC>agT p.S137S SKCM 19 16547762 16547762 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr19:16547762G>A c.358C>T c.(358-360)Cac>Tac p.H120Y SKCM 19 16547763 16547763 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr19:16547763G>A c.357C>T c.(355-357)gcC>gcT p.A119A SKCM 19 16553011 16553011 + Frame_Shift_Del DEL A A - TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr19:16553011delA c.53delT c.(52-54)ttgfs p.L18fs

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 19 16545237 16545237 single base substitution G A 3_prime_UTR_variant BLCA-CN 19 16545237 16545237 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BLCA-CN 19 16545237 16545237 single base substitution G A downstream_gene_variant BLCA-CN 19 16545237 16545237 single base substitution G A exon_variant BLCA-CN 19 16545237 16545237 single base substitution G A missense_variant S146F 437C>T BLCA-CN 19 16548599 16548599 single base substitution G A 3_prime_UTR_variant BLCA-CN 19 16548599 16548599 single base substitution G A downstream_gene_variant BLCA-CN 19 16548599 16548599 single base substitution G A exon_variant BLCA-CN 19 16548599 16548599 single base substitution G A intron_variant BLCA-CN 19 16548599 16548599 single base substitution G A synonymous_variant S97S 291C>T BLCA-CN 19 16548599 16548599 single base substitution G A upstream_gene_variant BLCA-US 19 16495955 16495955 single base substitution G A 3_prime_UTR_variant BLCA-US 19 16495955 16495955 single base substitution G A exon_variant BLCA-US 19 16495955 16495955 single base substitution G A synonymous_variant F206F 618C>T BLCA-US 19 16495955 16495955 single base substitution G A synonymous_variant F744F 2232C>T BLCA-US 19 16495955 16495955 single base substitution G A synonymous_variant F746F 2238C>T BLCA-US 19 16528407 16528407 single base substitution C T 3_prime_UTR_variant BLCA-US 19 16528407 16528407 single base substitution C T exon_variant BLCA-US 19 16528407 16528407 single base substitution C T synonymous_variant V229V 687G>A BLCA-US 19 16528407 16528407 single base substitution C T synonymous_variant V383V 1149G>A BLCA-US 19 16532171 16532171 single base substitution G A 3_prime_UTR_variant BLCA-US 19 16532171 16532171 single base substitution G A downstream_gene_variant BLCA-US 19 16532171 16532171 single base substitution G A exon_variant BLCA-US 19 16532171 16532171 single base substitution G A synonymous_variant F149F 447C>T BLCA-US 19 16532171 16532171 single base substitution G A synonymous_variant F303F 909C>T BLCA-US 19 16535906 16535906 single base substitution G A 3_prime_UTR_variant BLCA-US 19 16535906 16535906 single base substitution G A downstream_gene_variant BLCA-US 19 16535906 16535906 single base substitution G A exon_variant BLCA-US 19 16535906 16535906 single base substitution G A synonymous_variant L106L 318C>T BLCA-US 19 16535906 16535906 single base substitution G A synonymous_variant L260L 780C>T BLCA-US 19 16535906 16535906 single base substitution G A upstream_gene_variant BLCA-US 19 16552747 16552747 single base substitution G A exon_variant BLCA-US 19 16552747 16552747 single base substitution G A missense_variant L40F 118C>T BLCA-US 19 16552747 16552747 single base substitution G A missense_variant L41F 121C>T BRCA-EU 19 16461512 16461512 single base substitution C T downstream_gene_variant BRCA-EU 19 16462038 16462038 single base substitution C G downstream_gene_variant BRCA-EU 19 16464467 16464467 single base substitution G A downstream_gene_variant BRCA-EU 19 16464491 16464491 single base substitution C T downstream_gene_variant BRCA-EU 19 16464667 16464667 single base substitution G A downstream_gene_variant BRCA-EU 19 16465048 16465048 single base substitution G A downstream_gene_variant BRCA-EU 19 16465301 16465301 insertion of <=200bp - C downstream_gene_variant BRCA-EU 19 16465701 16465701 deletion of <=200bp T - downstream_gene_variant BRCA-EU 19 16467319 16467319 single base substitution C T intron_variant BRCA-EU 19 16467409 16467409 single base substitution C A downstream_gene_variant BRCA-EU 19 16467409 16467409 single base substitution C A intron_variant BRCA-EU 19 16467758 16467758 single base substitution C T downstream_gene_variant BRCA-EU 19 16467758 16467758 single base substitution C T intron_variant BRCA-EU 19 16468052 16468052 single base substitution G T downstream_gene_variant BRCA-EU 19 16468052 16468052 single base substitution G T intron_variant BRCA-EU 19 16468112 16468112 single base substitution A C downstream_gene_variant BRCA-EU 19 16468112 16468112 single base substitution A C intron_variant BRCA-EU 19 16469156 16469156 single base substitution G A downstream_gene_variant BRCA-EU 19 16469156 16469156 single base substitution G A intron_variant BRCA-EU 19 16470712 16470712 insertion of <=200bp - C downstream_gene_variant BRCA-EU 19 16470712 16470712 insertion of <=200bp - C intron_variant BRCA-EU 19 16471927 16471927 single base substitution G A downstream_gene_variant BRCA-EU 19 16471927 16471927 single base substitution G A intron_variant BRCA-EU 19 16472499 16472499 single base substitution G A 3_prime_UTR_variant BRCA-EU 19 16472499 16472499 single base substitution G A downstream_gene_variant BRCA-EU 19 16472499 16472499 single base substitution G A intron_variant BRCA-EU 19 16474577 16474577 single base substitution G A intron_variant BRCA-EU 19 16474577 16474577 single base substitution G A upstream_gene_variant BRCA-EU 19 16475713 16475713 deletion of <=200bp A - intron_variant BRCA-EU 19 16475713 16475713 deletion of <=200bp A - upstream_gene_variant BRCA-EU 19 16477740 16477740 insertion of <=200bp - T intron_variant BRCA-EU 19 16477740 16477740 insertion of <=200bp - T upstream_gene_variant BRCA-EU 19 16478034 16478034 single base substitution G C intron_variant BRCA-EU 19 16478530 16478530 single base substitution C T intron_variant BRCA-EU 19 16479653 16479653 single base substitution C T intron_variant BRCA-EU 19 16480087 16480087 single base substitution G A intron_variant BRCA-EU 19 16480620 16480620 single base substitution G C intron_variant BRCA-EU 19 16482669 16482669 single base substitution G C intron_variant BRCA-EU 19 16482951 16482951 single base substitution G C intron_variant BRCA-EU 19 16483038 16483038 single base substitution C T intron_variant BRCA-EU 19 16484206 16484206 single base substitution G C intron_variant BRCA-EU 19 16484784 16484784 single base substitution G A intron_variant BRCA-EU 19 16485416 16485416 single base substitution G C intron_variant BRCA-EU 19 16486518 16486518 single base substitution T A intron_variant BRCA-EU 19 16486556 16486556 single base substitution C T intron_variant BRCA-EU 19 16486758 16486758 single base substitution G A intron_variant BRCA-EU 19 16487187 16487188 deletion of <=200bp CT - intron_variant BRCA-EU 19 16488063 16488063 single base substitution G T intron_variant BRCA-EU 19 16488063 16488063 single base substitution G T splice_region_variant BRCA-EU 19 16489027 16489027 insertion of <=200bp - AGGC downstream_gene_variant BRCA-EU 19 16489027 16489027 insertion of <=200bp - AGGC intron_variant BRCA-EU 19 16490177 16490177 single base substitution G C downstream_gene_variant BRCA-EU 19 16490177 16490177 single base substitution G C intron_variant BRCA-EU 19 16490789 16490789 single base substitution C A downstream_gene_variant BRCA-EU 19 16490789 16490789 single base substitution C A intron_variant BRCA-EU 19 16491125 16491125 single base substitution G A downstream_gene_variant BRCA-EU 19 16491125 16491125 single base substitution G A intron_variant BRCA-EU 19 16492611 16492611 single base substitution A G downstream_gene_variant BRCA-EU 19 16492611 16492611 single base substitution A G intron_variant BRCA-EU 19 16493354 16493354 single base substitution T C downstream_gene_variant BRCA-EU 19 16493354 16493354 single base substitution T C intron_variant BRCA-EU 19 16495949 16495949 single base substitution C A 3_prime_UTR_variant BRCA-EU 19 16495949 16495949 single base substitution C A exon_variant BRCA-EU 19 16495949 16495949 single base substitution C A missense_variant Q208H 624G>T BRCA-EU 19 16495949 16495949 single base substitution C A missense_variant Q746H 2238G>T BRCA-EU 19 16495949 16495949 single base substitution C A missense_variant Q748H 2244G>T BRCA-EU 19 16495961 16495961 single base substitution G A 3_prime_UTR_variant BRCA-EU 19 16495961 16495961 single base substitution G A exon_variant BRCA-EU 19 16495961 16495961 single base substitution G A synonymous_variant A204A 612C>T BRCA-EU 19 16495961 16495961 single base substitution G A synonymous_variant A742A 2226C>T BRCA-EU 19 16495961 16495961 single base substitution G A synonymous_variant A744A 2232C>T BRCA-EU 19 16496116 16496116 single base substitution G T intron_variant BRCA-EU 19 16498927 16498927 single base substitution C G intron_variant BRCA-EU 19 16499076 16499076 single base substitution C T intron_variant BRCA-EU 19 16499973 16499973 single base substitution A G intron_variant BRCA-EU 19 16500903 16500903 single base substitution A T intron_variant BRCA-EU 19 16503476 16503476 single base substitution C T intron_variant BRCA-EU 19 16503542 16503542 single base substitution A G intron_variant BRCA-EU 19 16503598 16503598 single base substitution C T intron_variant BRCA-EU 19 16504231 16504231 single base substitution G T intron_variant BRCA-EU 19 16506515 16506515 single base substitution G C downstream_gene_variant BRCA-EU 19 16506515 16506515 single base substitution G C intron_variant BRCA-EU 19 16506814 16506814 single base substitution G A downstream_gene_variant BRCA-EU 19 16506814 16506814 single base substitution G A intron_variant BRCA-EU 19 16506917 16506917 single base substitution T A downstream_gene_variant BRCA-EU 19 16506917 16506917 single base substitution T A intron_variant BRCA-EU 19 16507326 16507326 single base substitution C T downstream_gene_variant BRCA-EU 19 16507326 16507326 single base substitution C T intron_variant BRCA-EU 19 16508231 16508231 deletion of <=200bp T - downstream_gene_variant BRCA-EU 19 16508231 16508231 deletion of <=200bp T - intron_variant BRCA-EU 19 16508848 16508848 single base substitution A T downstream_gene_variant BRCA-EU 19 16508848 16508848 single base substitution A T intron_variant BRCA-EU 19 16508979 16508979 single base substitution C A downstream_gene_variant BRCA-EU 19 16508979 16508979 single base substitution C A intron_variant BRCA-EU 19 16509565 16509565 single base substitution C G downstream_gene_variant BRCA-EU 19 16509565 16509565 single base substitution C G intron_variant BRCA-EU 19 16509713 16509713 single base substitution C T downstream_gene_variant BRCA-EU 19 16509713 16509713 single base substitution C T intron_variant BRCA-EU 19 16511130 16511130 single base substitution A G downstream_gene_variant BRCA-EU 19 16511130 16511130 single base substitution A G intron_variant BRCA-EU 19 16511739 16511739 single base substitution G C 3_prime_UTR_variant BRCA-EU 19 16511739 16511739 single base substitution G C intron_variant BRCA-EU 19 16515068 16515068 single base substitution G A intron_variant BRCA-EU 19 16515068 16515068 single base substitution G A upstream_gene_variant BRCA-EU 19 16516274 16516274 single base substitution C T intron_variant BRCA-EU 19 16516274 16516274 single base substitution C T upstream_gene_variant BRCA-EU 19 16516417 16516417 single base substitution A G intron_variant BRCA-EU 19 16516417 16516417 single base substitution A G upstream_gene_variant BRCA-EU 19 16517640 16517640 single base substitution C T intron_variant BRCA-EU 19 16517640 16517640 single base substitution C T upstream_gene_variant BRCA-EU 19 16517725 16517725 single base substitution T A intron_variant BRCA-EU 19 16517725 16517725 single base substitution T A upstream_gene_variant BRCA-EU 19 16518004 16518004 single base substitution C A intron_variant BRCA-EU 19 16518004 16518004 single base substitution C A upstream_gene_variant BRCA-EU 19 16518333 16518333 single base substitution C G intron_variant BRCA-EU 19 16518333 16518333 single base substitution C G upstream_gene_variant BRCA-EU 19 16519870 16519871 deletion of <=200bp AC - intron_variant BRCA-EU 19 16519872 16519872 insertion of <=200bp - A intron_variant BRCA-EU 19 16520932 16520932 single base substitution G A intron_variant BRCA-EU 19 16522077 16522077 single base substitution A C intron_variant BRCA-EU 19 16523526 16523526 single base substitution G C downstream_gene_variant BRCA-EU 19 16523526 16523526 single base substitution G C intron_variant BRCA-EU 19 16523753 16523753 single base substitution C T downstream_gene_variant BRCA-EU 19 16523753 16523753 single base substitution C T intron_variant BRCA-EU 19 16527531 16527531 single base substitution A G downstream_gene_variant BRCA-EU 19 16527531 16527531 single base substitution A G intron_variant BRCA-EU 19 16528043 16528043 single base substitution C G downstream_gene_variant BRCA-EU 19 16528043 16528043 single base substitution C G intron_variant BRCA-EU 19 16528887 16528887 single base substitution T A 3_prime_UTR_variant BRCA-EU 19 16528887 16528887 single base substitution T A exon_variant BRCA-EU 19 16528887 16528887 single base substitution T A stop_gained K173* 517A>T BRCA-EU 19 16528887 16528887 single base substitution T A stop_gained K327* 979A>T BRCA-EU 19 16530410 16530410 single base substitution C T intron_variant BRCA-EU 19 16530805 16530805 single base substitution C T intron_variant BRCA-EU 19 16533294 16533294 single base substitution C A downstream_gene_variant BRCA-EU 19 16533294 16533294 single base substitution C A intron_variant BRCA-EU 19 16533294 16533294 single base substitution C A upstream_gene_variant BRCA-EU 19 16533307 16533307 single base substitution C T downstream_gene_variant BRCA-EU 19 16533307 16533307 single base substitution C T intron_variant BRCA-EU 19 16533307 16533307 single base substitution C T upstream_gene_variant BRCA-EU 19 16534390 16534390 single base substitution T A downstream_gene_variant BRCA-EU 19 16534390 16534390 single base substitution T A intron_variant BRCA-EU 19 16534390 16534390 single base substitution T A upstream_gene_variant BRCA-EU 19 16535305 16535305 single base substitution C G downstream_gene_variant BRCA-EU 19 16535305 16535305 single base substitution C G intron_variant BRCA-EU 19 16535305 16535305 single base substitution C G upstream_gene_variant BRCA-EU 19 16536401 16536401 single base substitution G A downstream_gene_variant BRCA-EU 19 16536401 16536401 single base substitution G A intron_variant BRCA-EU 19 16536401 16536401 single base substitution G A upstream_gene_variant BRCA-EU 19 16537876 16537876 single base substitution G A downstream_gene_variant BRCA-EU 19 16537876 16537876 single base substitution G A intron_variant BRCA-EU 19 16538049 16538053 deletion of <=200bp TCACG - downstream_gene_variant BRCA-EU 19 16538049 16538053 deletion of <=200bp TCACG - intron_variant BRCA-EU 19 16540152 16540152 single base substitution C A intron_variant BRCA-EU 19 16541587 16541587 single base substitution G C intron_variant BRCA-EU 19 16543212 16543212 single base substitution T A downstream_gene_variant BRCA-EU 19 16543212 16543212 single base substitution T A intron_variant BRCA-EU 19 16543366 16543366 single base substitution G C downstream_gene_variant BRCA-EU 19 16543366 16543366 single base substitution G C intron_variant BRCA-EU 19 16544114 16544114 insertion of <=200bp - T downstream_gene_variant BRCA-EU 19 16544114 16544114 insertion of <=200bp - T intron_variant BRCA-EU 19 16544187 16544187 single base substitution C T downstream_gene_variant BRCA-EU 19 16544187 16544187 single base substitution C T intron_variant BRCA-EU 19 16544516 16544516 single base substitution G A downstream_gene_variant BRCA-EU 19 16544516 16544516 single base substitution G A intron_variant BRCA-EU 19 16545923 16545923 single base substitution C G 5_prime_UTR_variant BRCA-EU 19 16545923 16545923 single base substitution C G downstream_gene_variant BRCA-EU 19 16545923 16545923 single base substitution C G intron_variant BRCA-EU 19 16546891 16546891 single base substitution A G downstream_gene_variant BRCA-EU 19 16546891 16546891 single base substitution A G intron_variant BRCA-EU 19 16546891 16546891 single base substitution A G upstream_gene_variant BRCA-EU 19 16546938 16546938 single base substitution G C downstream_gene_variant BRCA-EU 19 16546938 16546938 single base substitution G C intron_variant BRCA-EU 19 16546938 16546938 single base substitution G C upstream_gene_variant BRCA-EU 19 16547614 16547614 single base substitution G A downstream_gene_variant BRCA-EU 19 16547614 16547614 single base substitution G A exon_variant BRCA-EU 19 16547614 16547614 single base substitution G A intron_variant BRCA-EU 19 16547614 16547614 single base substitution G A upstream_gene_variant BRCA-EU 19 16547626 16547626 single base substitution T C downstream_gene_variant BRCA-EU 19 16547626 16547626 single base substitution T C exon_variant BRCA-EU 19 16547626 16547626 single base substitution T C intron_variant BRCA-EU 19 16547626 16547626 single base substitution T C upstream_gene_variant BRCA-EU 19 16547808 16547808 single base substitution G A 3_prime_UTR_variant BRCA-EU 19 16547808 16547808 single base substitution G A downstream_gene_variant BRCA-EU 19 16547808 16547808 single base substitution G A intron_variant BRCA-EU 19 16547808 16547808 single base substitution G A splice_region_variant BRCA-EU 19 16547808 16547808 single base substitution G A upstream_gene_variant BRCA-EU 19 16547999 16547999 single base substitution G C downstream_gene_variant BRCA-EU 19 16547999 16547999 single base substitution G C intron_variant BRCA-EU 19 16547999 16547999 single base substitution G C upstream_gene_variant BRCA-EU 19 16548084 16548084 single base substitution G C downstream_gene_variant BRCA-EU 19 16548084 16548084 single base substitution G C intron_variant BRCA-EU 19 16548084 16548084 single base substitution G C upstream_gene_variant BRCA-EU 19 16548139 16548139 single base substitution G A downstream_gene_variant BRCA-EU 19 16548139 16548139 single base substitution G A intron_variant BRCA-EU 19 16548139 16548139 single base substitution G A upstream_gene_variant BRCA-EU 19 16548522 16548523 deletion of <=200bp AC - downstream_gene_variant BRCA-EU 19 16548522 16548523 deletion of <=200bp AC - intron_variant BRCA-EU 19 16548522 16548523 deletion of <=200bp AC - upstream_gene_variant BRCA-EU 19 16548592 16548592 single base substitution G A 3_prime_UTR_variant BRCA-EU 19 16548592 16548592 single base substitution G A downstream_gene_variant BRCA-EU 19 16548592 16548592 single base substitution G A exon_variant BRCA-EU 19 16548592 16548592 single base substitution G A intron_variant BRCA-EU 19 16548592 16548592 single base substitution G A missense_variant P100S 298C>T BRCA-EU 19 16548592 16548592 single base substitution G A upstream_gene_variant BRCA-EU 19 16548669 16548669 single base substitution T C downstream_gene_variant BRCA-EU 19 16548669 16548669 single base substitution T C exon_variant BRCA-EU 19 16548669 16548669 single base substitution T C intron_variant BRCA-EU 19 16548669 16548669 single base substitution T C missense_variant Y74C 221A>G BRCA-EU 19 16548669 16548669 single base substitution T C upstream_gene_variant BRCA-EU 19 16549208 16549208 single base substitution C A downstream_gene_variant BRCA-EU 19 16549208 16549208 single base substitution C A intron_variant BRCA-EU 19 16549208 16549208 single base substitution C A upstream_gene_variant BRCA-EU 19 16550318 16550318 single base substitution A C downstream_gene_variant BRCA-EU 19 16550318 16550318 single base substitution A C intron_variant BRCA-EU 19 16550318 16550318 single base substitution A C upstream_gene_variant BRCA-EU 19 16550364 16550364 single base substitution G C downstream_gene_variant BRCA-EU 19 16550364 16550364 single base substitution G C intron_variant BRCA-EU 19 16550364 16550364 single base substitution G C upstream_gene_variant BRCA-EU 19 16551080 16551080 single base substitution C T downstream_gene_variant BRCA-EU 19 16551080 16551080 single base substitution C T intron_variant BRCA-EU 19 16551080 16551080 single base substitution C T upstream_gene_variant BRCA-EU 19 16551376 16551376 single base substitution C G downstream_gene_variant BRCA-EU 19 16551376 16551376 single base substitution C G intron_variant BRCA-EU 19 16551502 16551502 deletion of <=200bp G - 3_prime_UTR_variant BRCA-EU 19 16551502 16551502 deletion of <=200bp G - downstream_gene_variant BRCA-EU 19 16551502 16551502 deletion of <=200bp G - intron_variant BRCA-EU 19 16551767 16551767 single base substitution C A downstream_gene_variant BRCA-EU 19 16551767 16551767 single base substitution C A intron_variant BRCA-EU 19 16551970 16551970 single base substitution C T downstream_gene_variant BRCA-EU 19 16551970 16551970 single base substitution C T intron_variant BRCA-EU 19 16552295 16552295 single base substitution C A downstream_gene_variant BRCA-EU 19 16552295 16552295 single base substitution C A intron_variant BRCA-EU 19 16552676 16552676 single base substitution G A exon_variant BRCA-EU 19 16552676 16552676 single base substitution G A intron_variant BRCA-EU 19 16553076 16553076 single base substitution T C intron_variant BRCA-EU 19 16553572 16553572 insertion of <=200bp - AGTA intron_variant BRCA-EU 19 16553797 16553797 single base substitution G A intron_variant BRCA-EU 19 16554469 16554469 single base substitution C T intron_variant BRCA-EU 19 16555909 16555909 single base substitution G C intron_variant BRCA-EU 19 16556595 16556595 single base substitution G C intron_variant BRCA-EU 19 16557460 16557460 single base substitution G T intron_variant BRCA-EU 19 16557633 16557633 single base substitution G C intron_variant BRCA-EU 19 16559359 16559359 single base substitution G A intron_variant BRCA-EU 19 16560457 16560457 single base substitution G C intron_variant BRCA-EU 19 16561134 16561134 single base substitution G A intron_variant BRCA-EU 19 16561478 16561478 single base substitution G C intron_variant BRCA-EU 19 16561490 16561490 single base substitution C G intron_variant BRCA-EU 19 16561522 16561522 single base substitution G A intron_variant BRCA-EU 19 16562054 16562054 single base substitution G A intron_variant BRCA-EU 19 16562168 16562168 single base substitution T C intron_variant BRCA-EU 19 16562486 16562486 single base substitution C T intron_variant BRCA-EU 19 16563068 16563068 single base substitution C T intron_variant BRCA-EU 19 16563350 16563350 single base substitution G A intron_variant BRCA-EU 19 16564511 16564511 single base substitution G A intron_variant BRCA-EU 19 16565739 16565739 single base substitution G C intron_variant BRCA-EU 19 16565809 16565809 single base substitution G A intron_variant BRCA-EU 19 16567774 16567774 deletion of <=200bp G - intron_variant BRCA-EU 19 16568384 16568384 single base substitution T C intron_variant BRCA-EU 19 16570295 16570295 single base substitution G A intron_variant BRCA-EU 19 16571148 16571148 insertion of <=200bp - A intron_variant BRCA-EU 19 16571522 16571522 single base substitution G A intron_variant BRCA-EU 19 16571593 16571593 single base substitution G T intron_variant BRCA-EU 19 16572433 16572433 insertion of <=200bp - A intron_variant BRCA-EU 19 16573581 16573581 single base substitution G A intron_variant BRCA-EU 19 16573908 16573908 insertion of <=200bp - AT intron_variant BRCA-EU 19 16576254 16576254 single base substitution G A intron_variant BRCA-EU 19 16576983 16576983 single base substitution G A intron_variant BRCA-EU 19 16577152 16577152 single base substitution C T intron_variant BRCA-EU 19 16578111 16578111 single base substitution C T intron_variant BRCA-EU 19 16579302 16579302 single base substitution G A intron_variant BRCA-EU 19 16579764 16579764 single base substitution G A intron_variant BRCA-EU 19 16580077 16580077 single base substitution G A intron_variant BRCA-EU 19 16580199 16580199 single base substitution C T intron_variant BRCA-EU 19 16581262 16581262 single base substitution G C intron_variant BRCA-EU 19 16581604 16581604 single base substitution G T intron_variant BRCA-EU 19 16581633 16581633 single base substitution C T intron_variant BRCA-EU 19 16583008 16583008 single base substitution C G upstream_gene_variant BRCA-EU 19 16583974 16583974 single base substitution G C upstream_gene_variant BRCA-EU 19 16584625 16584625 single base substitution C A upstream_gene_variant BRCA-EU 19 16585252 16585252 single base substitution G T upstream_gene_variant BRCA-EU 19 16585314 16585314 single base substitution G C upstream_gene_variant BRCA-EU 19 16586224 16586224 single base substitution C G upstream_gene_variant BRCA-EU 19 16586389 16586389 single base substitution G T upstream_gene_variant BRCA-EU 19 16586520 16586520 single base substitution T G upstream_gene_variant BRCA-EU 19 16586677 16586677 deletion of <=200bp T - upstream_gene_variant BRCA-FR 19 16465048 16465048 single base substitution G A downstream_gene_variant BRCA-FR 19 16485416 16485416 single base substitution G C intron_variant BRCA-FR 19 16495949 16495949 single base substitution C A 3_prime_UTR_variant BRCA-FR 19 16495949 16495949 single base substitution C A exon_variant BRCA-FR 19 16495949 16495949 single base substitution C A missense_variant Q208H 624G>T BRCA-FR 19 16495949 16495949 single base substitution C A missense_variant Q746H 2238G>T BRCA-FR 19 16495949 16495949 single base substitution C A missense_variant Q748H 2244G>T BRCA-FR 19 16521105 16521105 single base substitution C T intron_variant BRCA-FR 19 16545636 16545636 single base substitution G C 5_prime_UTR_variant BRCA-FR 19 16545636 16545636 single base substitution G C downstream_gene_variant BRCA-FR 19 16545636 16545636 single base substitution G C intron_variant BRCA-FR 19 16557460 16557460 single base substitution G T intron_variant BRCA-FR 19 16557633 16557633 single base substitution G C intron_variant BRCA-FR 19 16574161 16574161 single base substitution C T intron_variant BRCA-FR 19 16576983 16576983 single base substitution G A intron_variant BRCA-FR 19 16577152 16577152 single base substitution C T intron_variant BRCA-FR 19 16581262 16581262 single base substitution G C intron_variant BRCA-FR 19 16581633 16581633 single base substitution C T intron_variant BRCA-UK 19 16464667 16464667 single base substitution G A downstream_gene_variant BRCA-UK 19 16468112 16468112 single base substitution A C downstream_gene_variant BRCA-UK 19 16468112 16468112 single base substitution A C intron_variant BRCA-UK 19 16469273 16469273 single base substitution G A downstream_gene_variant BRCA-UK 19 16469273 16469273 single base substitution G A intron_variant BRCA-UK 19 16486690 16486690 single base substitution C G intron_variant BRCA-UK 19 16488214 16488214 single base substitution C T intron_variant BRCA-UK 19 16489186 16489186 single base substitution C T downstream_gene_variant BRCA-UK 19 16489186 16489186 single base substitution C T intron_variant BRCA-UK 19 16489247 16489247 single base substitution C T downstream_gene_variant BRCA-UK 19 16489247 16489247 single base substitution C T intron_variant BRCA-UK 19 16491811 16491811 single base substitution C T downstream_gene_variant BRCA-UK 19 16491811 16491811 single base substitution C T intron_variant BRCA-UK 19 16492291 16492291 single base substitution C T downstream_gene_variant BRCA-UK 19 16492291 16492291 single base substitution C T intron_variant BRCA-UK 19 16492751 16492751 single base substitution C G downstream_gene_variant BRCA-UK 19 16492751 16492751 single base substitution C G intron_variant BRCA-UK 19 16495050 16495050 single base substitution C T 3_prime_UTR_variant BRCA-UK 19 16495050 16495050 single base substitution C T intron_variant BRCA-UK 19 16543212 16543212 single base substitution T A downstream_gene_variant BRCA-UK 19 16543212 16543212 single base substitution T A intron_variant BRCA-UK 19 16552810 16552810 single base substitution G A intron_variant BRCA-UK 19 16553740 16553740 single base substitution A C intron_variant BRCA-UK 19 16571522 16571522 single base substitution G A intron_variant BRCA-UK 19 16583974 16583974 single base substitution G C upstream_gene_variant BRCA-UK 19 16587607 16587607 single base substitution C T upstream_gene_variant BRCA-US 19 16514562 16514562 single base substitution C T 3_prime_UTR_variant BRCA-US 19 16514562 16514562 single base substitution C T exon_variant BRCA-US 19 16514562 16514562 single base substitution C T synonymous_variant T382T 1146G>A BRCA-US 19 16514562 16514562 single base substitution C T synonymous_variant T536T 1608G>A BRCA-US 19 16514562 16514562 single base substitution C T upstream_gene_variant BRCA-US 19 16528437 16528437 single base substitution G A 3_prime_UTR_variant BRCA-US 19 16528437 16528437 single base substitution G A exon_variant BRCA-US 19 16528437 16528437 single base substitution G A synonymous_variant G219G 657C>T BRCA-US 19 16528437 16528437 single base substitution G A synonymous_variant G373G 1119C>T BRCA-US 19 16528786 16528786 single base substitution C T 3_prime_UTR_variant BRCA-US 19 16528786 16528786 single base substitution C T exon_variant BRCA-US 19 16528786 16528786 single base substitution C T synonymous_variant P206P 618G>A BRCA-US 19 16528786 16528786 single base substitution C T synonymous_variant P360P 1080G>A BRCA-US 19 16528799 16528799 single base substitution G C 3_prime_UTR_variant BRCA-US 19 16528799 16528799 single base substitution G C exon_variant BRCA-US 19 16528799 16528799 single base substitution G C missense_variant P202R 605C>G BRCA-US 19 16528799 16528799 single base substitution G C missense_variant P356R 1067C>G BRCA-US 19 16548608 16548608 single base substitution C T 3_prime_UTR_variant BRCA-US 19 16548608 16548608 single base substitution C T downstream_gene_variant BRCA-US 19 16548608 16548608 single base substitution C T exon_variant BRCA-US 19 16548608 16548608 single base substitution C T intron_variant BRCA-US 19 16548608 16548608 single base substitution C T synonymous_variant L94L 282G>A BRCA-US 19 16548608 16548608 single base substitution C T upstream_gene_variant BTCA-JP 19 16472812 16472812 deletion of <=200bp A - intron_variant BTCA-JP 19 16472812 16472812 deletion of <=200bp A - upstream_gene_variant BTCA-JP 19 16513368 16513368 single base substitution T A intron_variant BTCA-JP 19 16515710 16515710 single base substitution C T intron_variant BTCA-JP 19 16515710 16515710 single base substitution C T upstream_gene_variant BTCA-JP 19 16524610 16524610 single base substitution T C 3_prime_UTR_variant BTCA-JP 19 16524610 16524610 single base substitution T C downstream_gene_variant BTCA-JP 19 16524610 16524610 single base substitution T C exon_variant BTCA-JP 19 16524610 16524610 single base substitution T C missense_variant I260V 778A>G BTCA-JP 19 16524610 16524610 single base substitution T C missense_variant I414V 1240A>G BTCA-JP 19 16539332 16539332 single base substitution G A downstream_gene_variant BTCA-JP 19 16539332 16539332 single base substitution G A intron_variant BTCA-JP 19 16539460 16539460 single base substitution C T downstream_gene_variant BTCA-JP 19 16539460 16539460 single base substitution C T intron_variant BTCA-JP 19 16539518 16539518 single base substitution C T 3_prime_UTR_variant BTCA-JP 19 16539518 16539518 single base substitution C T exon_variant BTCA-JP 19 16539518 16539518 single base substitution C T missense_variant A185T 553G>A BTCA-JP 19 16539518 16539518 single base substitution C T missense_variant A31T 91G>A BTCA-JP 19 16547672 16547672 single base substitution G C downstream_gene_variant BTCA-JP 19 16547672 16547672 single base substitution G C exon_variant BTCA-JP 19 16547672 16547672 single base substitution G C intron_variant BTCA-JP 19 16547672 16547672 single base substitution G C upstream_gene_variant BTCA-JP 19 16548575 16548575 single base substitution A T downstream_gene_variant BTCA-JP 19 16548575 16548575 single base substitution A T intron_variant BTCA-JP 19 16548575 16548575 single base substitution A T splice_region_variant BTCA-JP 19 16548575 16548575 single base substitution A T upstream_gene_variant BTCA-JP 19 16553082 16553082 deletion of <=200bp A - intron_variant CESC-US 19 16524625 16524625 single base substitution C T 3_prime_UTR_variant CESC-US 19 16524625 16524625 single base substitution C T downstream_gene_variant CESC-US 19 16524625 16524625 single base substitution C T exon_variant CESC-US 19 16524625 16524625 single base substitution C T missense_variant E255K 763G>A CESC-US 19 16524625 16524625 single base substitution C T missense_variant E409K 1225G>A CLLE-ES 19 16463815 16463815 single base substitution T A downstream_gene_variant CLLE-ES 19 16494646 16494646 single base substitution G C 3_prime_UTR_variant CLLE-ES 19 16494646 16494646 single base substitution G C intron_variant CLLE-ES 19 16541983 16541983 single base substitution G A intron_variant CLLE-ES 19 16553854 16553854 single base substitution T C intron_variant CLLE-ES 19 16555059 16555059 single base substitution G C intron_variant CLLE-ES 19 16556353 16556353 single base substitution A C intron_variant CLLE-ES 19 16567772 16567772 single base substitution G A intron_variant COAD-US 19 16497040 16497040 single base substitution G A splice_region_variant COAD-US 19 16515539 16515539 single base substitution G A 3_prime_UTR_variant COAD-US 19 16515539 16515539 single base substitution G A exon_variant COAD-US 19 16515539 16515539 single base substitution G A missense_variant R276W 826C>T COAD-US 19 16515539 16515539 single base substitution G A missense_variant R430W 1288C>T COAD-US 19 16515539 16515539 single base substitution G A upstream_gene_variant COAD-US 19 16528906 16528906 single base substitution G A 3_prime_UTR_variant COAD-US 19 16528906 16528906 single base substitution G A exon_variant COAD-US 19 16528906 16528906 single base substitution G A synonymous_variant A166A 498C>T COAD-US 19 16528906 16528906 single base substitution G A synonymous_variant A320A 960C>T COAD-US 19 16535994 16535994 deletion of <=200bp G - 3_prime_UTR_variant COAD-US 19 16535994 16535994 deletion of <=200bp G - downstream_gene_variant COAD-US 19 16535994 16535994 deletion of <=200bp G - exon_variant COAD-US 19 16535994 16535994 deletion of <=200bp G - frameshift_variant P231 COAD-US 19 16535994 16535994 deletion of <=200bp G - frameshift_variant P77 COAD-US 19 16535994 16535994 deletion of <=200bp G - upstream_gene_variant COAD-US 19 16536023 16536023 single base substitution G A 3_prime_UTR_variant COAD-US 19 16536023 16536023 single base substitution G A downstream_gene_variant COAD-US 19 16536023 16536023 single base substitution G A exon_variant COAD-US 19 16536023 16536023 single base substitution G A synonymous_variant G221G 663C>T COAD-US 19 16536023 16536023 single base substitution G A synonymous_variant G67G 201C>T COAD-US 19 16536023 16536023 single base substitution G A upstream_gene_variant COCA-CN 19 16496168 16496168 single base substitution C T intron_variant COCA-CN 19 16503329 16503329 single base substitution G T intron_variant COCA-CN 19 16513309 16513309 single base substitution G T intron_variant COCA-CN 19 16535857 16535857 single base substitution C T downstream_gene_variant COCA-CN 19 16535857 16535857 single base substitution C T intron_variant COCA-CN 19 16535857 16535857 single base substitution C T upstream_gene_variant COCA-CN 19 16548522 16548522 insertion of <=200bp - AC downstream_gene_variant COCA-CN 19 16548522 16548522 insertion of <=200bp - AC intron_variant COCA-CN 19 16548522 16548522 insertion of <=200bp - AC upstream_gene_variant EOPC-DE 19 16463342 16463342 single base substitution T C downstream_gene_variant EOPC-DE 19 16464713 16464713 single base substitution T A downstream_gene_variant EOPC-DE 19 16511823 16511823 single base substitution A T 3_prime_UTR_variant EOPC-DE 19 16511823 16511823 single base substitution A T intron_variant ESAD-UK 19 16465011 16465011 single base substitution G A downstream_gene_variant ESAD-UK 19 16465700 16465700 single base substitution A T downstream_gene_variant ESAD-UK 19 16466795 16466795 single base substitution T A intron_variant ESAD-UK 19 16470546 16470546 single base substitution G A downstream_gene_variant ESAD-UK 19 16470546 16470546 single base substitution G A intron_variant ESAD-UK 19 16476705 16476705 single base substitution C T intron_variant ESAD-UK 19 16476705 16476705 single base substitution C T upstream_gene_variant ESAD-UK 19 16477212 16477212 deletion of <=200bp A - intron_variant ESAD-UK 19 16477212 16477212 deletion of <=200bp A - upstream_gene_variant ESAD-UK 19 16479868 16479868 single base substitution C T intron_variant ESAD-UK 19 16481493 16481493 single base substitution T C intron_variant ESAD-UK 19 16484619 16484619 single base substitution C T intron_variant ESAD-UK 19 16485107 16485107 single base substitution C T intron_variant ESAD-UK 19 16485569 16485569 single base substitution C T intron_variant ESAD-UK 19 16488620 16488620 single base substitution A C intron_variant ESAD-UK 19 16490743 16490743 single base substitution T A downstream_gene_variant ESAD-UK 19 16490743 16490743 single base substitution T A intron_variant ESAD-UK 19 16493144 16493144 single base substitution G A downstream_gene_variant ESAD-UK 19 16493144 16493144 single base substitution G A intron_variant ESAD-UK 19 16496031 16496031 single base substitution G A intron_variant ESAD-UK 19 16496498 16496498 single base substitution C T intron_variant ESAD-UK 19 16497978 16497978 single base substitution C T intron_variant ESAD-UK 19 16499555 16499555 single base substitution G A intron_variant ESAD-UK 19 16500731 16500731 single base substitution T C intron_variant ESAD-UK 19 16500973 16500973 single base substitution G A intron_variant ESAD-UK 19 16507924 16507924 single base substitution G A downstream_gene_variant ESAD-UK 19 16507924 16507924 single base substitution G A intron_variant ESAD-UK 19 16511062 16511062 single base substitution C G downstream_gene_variant ESAD-UK 19 16511062 16511062 single base substitution C G intron_variant ESAD-UK 19 16516370 16516370 single base substitution C T intron_variant ESAD-UK 19 16516370 16516370 single base substitution C T upstream_gene_variant ESAD-UK 19 16516720 16516720 single base substitution C A intron_variant ESAD-UK 19 16516720 16516720 single base substitution C A upstream_gene_variant ESAD-UK 19 16518273 16518273 single base substitution C T intron_variant ESAD-UK 19 16518273 16518273 single base substitution C T upstream_gene_variant ESAD-UK 19 16525071 16525071 single base substitution G A downstream_gene_variant ESAD-UK 19 16525071 16525071 single base substitution G A intron_variant ESAD-UK 19 16533789 16533789 single base substitution G A downstream_gene_variant ESAD-UK 19 16533789 16533789 single base substitution G A intron_variant ESAD-UK 19 16533789 16533789 single base substitution G A upstream_gene_variant ESAD-UK 19 16534564 16534564 single base substitution A C downstream_gene_variant ESAD-UK 19 16534564 16534564 single base substitution A C intron_variant ESAD-UK 19 16534564 16534564 single base substitution A C upstream_gene_variant ESAD-UK 19 16535489 16535489 single base substitution G A downstream_gene_variant ESAD-UK 19 16535489 16535489 single base substitution G A intron_variant ESAD-UK 19 16535489 16535489 single base substitution G A upstream_gene_variant ESAD-UK 19 16535878 16535878 single base substitution G A downstream_gene_variant ESAD-UK 19 16535878 16535878 single base substitution G A intron_variant ESAD-UK 19 16535878 16535878 single base substitution G A upstream_gene_variant ESAD-UK 19 16537141 16537141 single base substitution G C downstream_gene_variant ESAD-UK 19 16537141 16537141 single base substitution G C intron_variant ESAD-UK 19 16537141 16537141 single base substitution G C upstream_gene_variant ESAD-UK 19 16537143 16537143 single base substitution T C downstream_gene_variant ESAD-UK 19 16537143 16537143 single base substitution T C intron_variant ESAD-UK 19 16537143 16537143 single base substitution T C upstream_gene_variant ESAD-UK 19 16537864 16537864 single base substitution C T downstream_gene_variant ESAD-UK 19 16537864 16537864 single base substitution C T intron_variant ESAD-UK 19 16539173 16539173 single base substitution G C downstream_gene_variant ESAD-UK 19 16539173 16539173 single base substitution G C intron_variant ESAD-UK 19 16539658 16539658 single base substitution C T intron_variant ESAD-UK 19 16541007 16541007 single base substitution G T intron_variant ESAD-UK 19 16541974 16541979 deletion of <=200bp AGGGAG - intron_variant ESAD-UK 19 16545878 16545878 single base substitution C T 5_prime_UTR_variant ESAD-UK 19 16545878 16545878 single base substitution C T downstream_gene_variant ESAD-UK 19 16545878 16545878 single base substitution C T intron_variant ESAD-UK 19 16546634 16546634 single base substitution A G downstream_gene_variant ESAD-UK 19 16546634 16546634 single base substitution A G intron_variant ESAD-UK 19 16546634 16546634 single base substitution A G upstream_gene_variant ESAD-UK 19 16546884 16546884 single base substitution T G downstream_gene_variant ESAD-UK 19 16546884 16546884 single base substitution T G intron_variant ESAD-UK 19 16546884 16546884 single base substitution T G upstream_gene_variant ESAD-UK 19 16547484 16547484 single base substitution C G downstream_gene_variant ESAD-UK 19 16547484 16547484 single base substitution C G exon_variant ESAD-UK 19 16547484 16547484 single base substitution C G intron_variant ESAD-UK 19 16547484 16547484 single base substitution C G upstream_gene_variant ESAD-UK 19 16548188 16548188 single base substitution A G downstream_gene_variant ESAD-UK 19 16548188 16548188 single base substitution A G intron_variant ESAD-UK 19 16548188 16548188 single base substitution A G upstream_gene_variant ESAD-UK 19 16550242 16550242 single base substitution C G downstream_gene_variant ESAD-UK 19 16550242 16550242 single base substitution C G intron_variant ESAD-UK 19 16550242 16550242 single base substitution C G upstream_gene_variant ESAD-UK 19 16550281 16550281 single base substitution T C downstream_gene_variant ESAD-UK 19 16550281 16550281 single base substitution T C intron_variant ESAD-UK 19 16550281 16550281 single base substitution T C upstream_gene_variant ESAD-UK 19 16550969 16550969 single base substitution C T downstream_gene_variant ESAD-UK 19 16550969 16550969 single base substitution C T intron_variant ESAD-UK 19 16550969 16550969 single base substitution C T upstream_gene_variant ESAD-UK 19 16554641 16554641 single base substitution C T intron_variant ESAD-UK 19 16560059 16560059 insertion of <=200bp - AAAC intron_variant ESAD-UK 19 16560321 16560321 single base substitution G A intron_variant ESAD-UK 19 16562677 16562677 single base substitution G A intron_variant ESAD-UK 19 16565483 16565483 deletion of <=200bp A - intron_variant ESAD-UK 19 16566194 16566194 single base substitution C T intron_variant ESAD-UK 19 16569638 16569638 single base substitution G A intron_variant ESAD-UK 19 16570446 16570446 single base substitution G A intron_variant ESAD-UK 19 16571276 16571276 single base substitution A T intron_variant ESAD-UK 19 16571423 16571423 single base substitution A G intron_variant ESAD-UK 19 16574398 16574398 insertion of <=200bp - CT intron_variant ESAD-UK 19 16576298 16576298 single base substitution A T intron_variant ESAD-UK 19 16579684 16579684 single base substitution G A intron_variant ESAD-UK 19 16583243 16583246 deletion of <=200bp GTGC - upstream_gene_variant ESAD-UK 19 16583879 16583879 single base substitution G A upstream_gene_variant ESAD-UK 19 16584992 16584992 single base substitution A G upstream_gene_variant ESAD-UK 19 16586520 16586520 single base substitution T G upstream_gene_variant ESAD-UK 19 16586571 16586571 single base substitution C T upstream_gene_variant ESAD-UK 19 16586814 16586814 single base substitution T G upstream_gene_variant ESCA-CN 19 16472852 16472852 single base substitution C T intron_variant ESCA-CN 19 16472852 16472852 single base substitution C T upstream_gene_variant ESCA-CN 19 16552464 16552464 single base substitution T A exon_variant ESCA-CN 19 16552464 16552464 single base substitution T A intron_variant GBM-US 19 16515514 16515514 single base substitution A G 3_prime_UTR_variant GBM-US 19 16515514 16515514 single base substitution A G exon_variant GBM-US 19 16515514 16515514 single base substitution A G missense_variant L284P 851T>C GBM-US 19 16515514 16515514 single base substitution A G missense_variant L438P 1313T>C GBM-US 19 16515514 16515514 single base substitution A G upstream_gene_variant KIRC-US 19 16535940 16535940 single base substitution T C 3_prime_UTR_variant KIRC-US 19 16535940 16535940 single base substitution T C downstream_gene_variant KIRC-US 19 16535940 16535940 single base substitution T C exon_variant KIRC-US 19 16535940 16535940 single base substitution T C missense_variant N249S 746A>G KIRC-US 19 16535940 16535940 single base substitution T C missense_variant N95S 284A>G KIRC-US 19 16535940 16535940 single base substitution T C upstream_gene_variant KIRC-US 19 16536069 16536069 single base substitution G A 3_prime_UTR_variant KIRC-US 19 16536069 16536069 single base substitution G A downstream_gene_variant KIRC-US 19 16536069 16536069 single base substitution G A exon_variant KIRC-US 19 16536069 16536069 single base substitution G A missense_variant P206L 617C>T KIRC-US 19 16536069 16536069 single base substitution G A missense_variant P52L 155C>T KIRC-US 19 16536069 16536069 single base substitution G A upstream_gene_variant KIRC-US 19 16547765 16547765 single base substitution C A 3_prime_UTR_variant KIRC-US 19 16547765 16547765 single base substitution C A downstream_gene_variant KIRC-US 19 16547765 16547765 single base substitution C A exon_variant KIRC-US 19 16547765 16547765 single base substitution C A intron_variant KIRC-US 19 16547765 16547765 single base substitution C A missense_variant A119S 355G>T KIRC-US 19 16547765 16547765 single base substitution C A upstream_gene_variant KIRC-US 19 16552710 16552710 single base substitution A C exon_variant KIRC-US 19 16552710 16552710 single base substitution A C missense_variant L52R 155T>G KIRC-US 19 16552710 16552710 single base substitution A C missense_variant L53R 158T>G KIRP-US 19 16503123 16503123 single base substitution G A 3_prime_UTR_variant KIRP-US 19 16503123 16503123 single base substitution G A exon_variant KIRP-US 19 16503123 16503123 single base substitution G A missense_variant P161S 481C>T KIRP-US 19 16503123 16503123 single base substitution G A missense_variant P699S 2095C>T KIRP-US 19 16503123 16503123 single base substitution G A missense_variant P701S 2101C>T KIRP-US 19 16503124 16503124 single base substitution T A 3_prime_UTR_variant KIRP-US 19 16503124 16503124 single base substitution T A exon_variant KIRP-US 19 16503124 16503124 single base substitution T A missense_variant L160F 480A>T KIRP-US 19 16503124 16503124 single base substitution T A missense_variant L698F 2094A>T KIRP-US 19 16503124 16503124 single base substitution T A missense_variant L700F 2100A>T KIRP-US 19 16513268 16513268 single base substitution T C 3_prime_UTR_variant KIRP-US 19 16513268 16513268 single base substitution T C exon_variant KIRP-US 19 16513268 16513268 single base substitution T C missense_variant E14G 41A>G KIRP-US 19 16513268 16513268 single base substitution T C missense_variant E398G 1193A>G KIRP-US 19 16513268 16513268 single base substitution T C missense_variant E552G 1655A>G KIRP-US 19 16548668 16548669 deletion of <=200bp AT - downstream_gene_variant KIRP-US 19 16548668 16548669 deletion of <=200bp AT - exon_variant KIRP-US 19 16548668 16548669 deletion of <=200bp AT - frameshift_variant Y74 KIRP-US 19 16548668 16548669 deletion of <=200bp AT - intron_variant KIRP-US 19 16548668 16548669 deletion of <=200bp AT - upstream_gene_variant KIRP-US 19 16551694 16551694 single base substitution A G downstream_gene_variant KIRP-US 19 16551694 16551694 single base substitution A G exon_variant KIRP-US 19 16551694 16551694 single base substitution A G intron_variant KIRP-US 19 16551694 16551694 single base substitution A G splice_donor_variant KIRP-US 19 16551694 16551694 single base substitution A G synonymous_variant G63G 189T>C KIRP-US 19 16551694 16551694 single base substitution A G synonymous_variant G64G 192T>C LAML-KR 19 16465259 16465259 single base substitution T C downstream_gene_variant LAML-KR 19 16538809 16538809 single base substitution C G downstream_gene_variant LAML-KR 19 16538809 16538809 single base substitution C G intron_variant LAML-KR 19 16543475 16543475 single base substitution C T downstream_gene_variant LAML-KR 19 16543475 16543475 single base substitution C T intron_variant LAML-KR 19 16562777 16562777 single base substitution G A intron_variant LGG-US 19 16487940 16487940 single base substitution C T 3_prime_UTR_variant LGG-US 19 16487940 16487940 single base substitution C T intron_variant LGG-US 19 16487940 16487940 single base substitution C T synonymous_variant P791P 2373G>A LICA-CN 19 16504765 16504765 single base substitution T C 3_prime_UTR_variant LICA-CN 19 16504765 16504765 single base substitution T C exon_variant LICA-CN 19 16504765 16504765 single base substitution T C missense_variant T117A 349A>G LICA-CN 19 16504765 16504765 single base substitution T C missense_variant T655A 1963A>G LICA-CN 19 16504765 16504765 single base substitution T C missense_variant T657A 1969A>G LICA-CN 19 16513121 16513121 single base substitution T A intron_variant LICA-CN 19 16513121 16513121 single base substitution T A missense_variant E447V 1340A>T LICA-CN 19 16513121 16513121 single base substitution T A missense_variant E601V 1802A>T LICA-CN 19 16513121 16513121 single base substitution T A splice_region_variant LICA-CN 19 16514644 16514644 single base substitution T A 3_prime_UTR_variant LICA-CN 19 16514644 16514644 single base substitution T A exon_variant LICA-CN 19 16514644 16514644 single base substitution T A missense_variant Q355L 1064A>T LICA-CN 19 16514644 16514644 single base substitution T A missense_variant Q509L 1526A>T LICA-CN 19 16514644 16514644 single base substitution T A upstream_gene_variant LICA-FR 19 16467110 16467110 single base substitution C A intron_variant LICA-FR 19 16527453 16527453 deletion of <=200bp A - downstream_gene_variant LICA-FR 19 16527453 16527453 deletion of <=200bp A - intron_variant LIHC-US 19 16545246 16545246 single base substitution C A 3_prime_UTR_variant LIHC-US 19 16545246 16545246 single base substitution C A 5_prime_UTR_variant LIHC-US 19 16545246 16545246 single base substitution C A downstream_gene_variant LIHC-US 19 16545246 16545246 single base substitution C A exon_variant LIHC-US 19 16545246 16545246 single base substitution C A missense_variant G143V 428G>T LINC-JP 19 16464286 16464286 single base substitution T C downstream_gene_variant LINC-JP 19 16479091 16479091 single base substitution C A intron_variant LINC-JP 19 16489141 16489141 single base substitution T C downstream_gene_variant LINC-JP 19 16489141 16489141 single base substitution T C intron_variant LINC-JP 19 16497034 16497034 single base substitution G C 3_prime_UTR_variant LINC-JP 19 16497034 16497034 single base substitution G C exon_variant LINC-JP 19 16497034 16497034 single base substitution G C synonymous_variant P166P 498C>G LINC-JP 19 16497034 16497034 single base substitution G C synonymous_variant P704P 2112C>G LINC-JP 19 16497034 16497034 single base substitution G C synonymous_variant P706P 2118C>G LINC-JP 19 16497231 16497231 single base substitution C T intron_variant LINC-JP 19 16504220 16504220 single base substitution A G intron_variant LINC-JP 19 16508563 16508563 single base substitution T C downstream_gene_variant LINC-JP 19 16508563 16508563 single base substitution T C intron_variant LINC-JP 19 16509806 16509806 deletion of <=200bp T - downstream_gene_variant LINC-JP 19 16509806 16509806 deletion of <=200bp T - intron_variant LINC-JP 19 16513368 16513368 single base substitution T A intron_variant LINC-JP 19 16514271 16514271 single base substitution T A intron_variant LINC-JP 19 16522235 16522235 single base substitution T C intron_variant LINC-JP 19 16522241 16522241 single base substitution T G intron_variant LINC-JP 19 16528799 16528799 single base substitution G A 3_prime_UTR_variant LINC-JP 19 16528799 16528799 single base substitution G A exon_variant LINC-JP 19 16528799 16528799 single base substitution G A missense_variant P202L 605C>T LINC-JP 19 16528799 16528799 single base substitution G A missense_variant P356L 1067C>T LINC-JP 19 16536008 16536008 single base substitution C A 3_prime_UTR_variant LINC-JP 19 16536008 16536008 single base substitution C A downstream_gene_variant LINC-JP 19 16536008 16536008 single base substitution C A exon_variant LINC-JP 19 16536008 16536008 single base substitution C A synonymous_variant L226L 678G>T LINC-JP 19 16536008 16536008 single base substitution C A synonymous_variant L72L 216G>T LINC-JP 19 16536008 16536008 single base substitution C A upstream_gene_variant LINC-JP 19 16536791 16536791 single base substitution C T downstream_gene_variant LINC-JP 19 16536791 16536791 single base substitution C T intron_variant LINC-JP 19 16536791 16536791 single base substitution C T upstream_gene_variant LINC-JP 19 16547882 16547882 single base substitution A C downstream_gene_variant LINC-JP 19 16547882 16547882 single base substitution A C intron_variant LINC-JP 19 16547882 16547882 single base substitution A C splice_region_variant LINC-JP 19 16547882 16547882 single base substitution A C upstream_gene_variant LINC-JP 19 16551032 16551032 single base substitution T A downstream_gene_variant LINC-JP 19 16551032 16551032 single base substitution T A intron_variant LINC-JP 19 16551032 16551032 single base substitution T A upstream_gene_variant LIRI-JP 19 16462279 16462279 single base substitution T C downstream_gene_variant LIRI-JP 19 16462761 16462761 single base substitution T C downstream_gene_variant LIRI-JP 19 16463187 16463187 single base substitution G A downstream_gene_variant LIRI-JP 19 16463216 16463216 single base substitution A G downstream_gene_variant LIRI-JP 19 16471268 16471268 single base substitution G A downstream_gene_variant LIRI-JP 19 16471268 16471268 single base substitution G A intron_variant LIRI-JP 19 16473403 16473403 single base substitution T C intron_variant LIRI-JP 19 16473403 16473403 single base substitution T C upstream_gene_variant LIRI-JP 19 16477331 16477331 single base substitution A T intron_variant LIRI-JP 19 16477331 16477331 single base substitution A T upstream_gene_variant LIRI-JP 19 16477332 16477332 single base substitution G T intron_variant LIRI-JP 19 16477332 16477332 single base substitution G T upstream_gene_variant LIRI-JP 19 16478707 16478707 single base substitution G A intron_variant LIRI-JP 19 16480407 16480407 single base substitution A C intron_variant LIRI-JP 19 16484742 16484742 single base substitution C T intron_variant LIRI-JP 19 16489595 16489595 single base substitution C G downstream_gene_variant LIRI-JP 19 16489595 16489595 single base substitution C G intron_variant LIRI-JP 19 16492329 16492329 single base substitution G A downstream_gene_variant LIRI-JP 19 16492329 16492329 single base substitution G A intron_variant LIRI-JP 19 16493017 16493017 single base substitution T C downstream_gene_variant LIRI-JP 19 16493017 16493017 single base substitution T C intron_variant LIRI-JP 19 16493018 16493018 single base substitution G A downstream_gene_variant LIRI-JP 19 16493018 16493018 single base substitution G A intron_variant LIRI-JP 19 16493039 16493039 single base substitution C T downstream_gene_variant LIRI-JP 19 16493039 16493039 single base substitution C T intron_variant LIRI-JP 19 16494150 16494150 single base substitution C T 3_prime_UTR_variant LIRI-JP 19 16494150 16494150 single base substitution C T intron_variant LIRI-JP 19 16498748 16498748 single base substitution T C intron_variant LIRI-JP 19 16504293 16504293 single base substitution T C intron_variant LIRI-JP 19 16505924 16505924 single base substitution T C intron_variant LIRI-JP 19 16509498 16509498 single base substitution C T downstream_gene_variant LIRI-JP 19 16509498 16509498 single base substitution C T intron_variant LIRI-JP 19 16509642 16509642 single base substitution T C downstream_gene_variant LIRI-JP 19 16509642 16509642 single base substitution T C intron_variant LIRI-JP 19 16509801 16509801 single base substitution T A downstream_gene_variant LIRI-JP 19 16509801 16509801 single base substitution T A intron_variant LIRI-JP 19 16515566 16515566 single base substitution G A splice_region_variant LIRI-JP 19 16515566 16515566 single base substitution G A upstream_gene_variant LIRI-JP 19 16518237 16518237 single base substitution C T intron_variant LIRI-JP 19 16518237 16518237 single base substitution C T upstream_gene_variant LIRI-JP 19 16519147 16519147 single base substitution A C intron_variant LIRI-JP 19 16519147 16519147 single base substitution A C upstream_gene_variant LIRI-JP 19 16519325 16519325 single base substitution G T intron_variant LIRI-JP 19 16519325 16519325 single base substitution G T upstream_gene_variant LIRI-JP 19 16520682 16520682 single base substitution G A intron_variant LIRI-JP 19 16521243 16521243 single base substitution G C intron_variant LIRI-JP 19 16521796 16521796 single base substitution T C intron_variant LIRI-JP 19 16531518 16531518 single base substitution G C downstream_gene_variant LIRI-JP 19 16531518 16531518 single base substitution G C intron_variant LIRI-JP 19 16532356 16532356 single base substitution T A downstream_gene_variant LIRI-JP 19 16532356 16532356 single base substitution T A intron_variant LIRI-JP 19 16532356 16532356 single base substitution T A upstream_gene_variant LIRI-JP 19 16533571 16533571 single base substitution C T downstream_gene_variant LIRI-JP 19 16533571 16533571 single base substitution C T intron_variant LIRI-JP 19 16533571 16533571 single base substitution C T upstream_gene_variant LIRI-JP 19 16533682 16533682 single base substitution T C downstream_gene_variant LIRI-JP 19 16533682 16533682 single base substitution T C intron_variant LIRI-JP 19 16533682 16533682 single base substitution T C upstream_gene_variant LIRI-JP 19 16534784 16534784 single base substitution C A downstream_gene_variant LIRI-JP 19 16534784 16534784 single base substitution C A intron_variant LIRI-JP 19 16534784 16534784 single base substitution C A upstream_gene_variant LIRI-JP 19 16536262 16536262 deletion of <=200bp A - downstream_gene_variant LIRI-JP 19 16536262 16536262 deletion of <=200bp A - intron_variant LIRI-JP 19 16536262 16536262 deletion of <=200bp A - upstream_gene_variant LIRI-JP 19 16536415 16536415 single base substitution G C downstream_gene_variant LIRI-JP 19 16536415 16536415 single base substitution G C intron_variant LIRI-JP 19 16536415 16536415 single base substitution G C upstream_gene_variant LIRI-JP 19 16537510 16537510 single base substitution T A downstream_gene_variant LIRI-JP 19 16537510 16537510 single base substitution T A intron_variant LIRI-JP 19 16538356 16538356 single base substitution T C downstream_gene_variant LIRI-JP 19 16538356 16538356 single base substitution T C intron_variant LIRI-JP 19 16543376 16543376 single base substitution C T downstream_gene_variant LIRI-JP 19 16543376 16543376 single base substitution C T intron_variant LIRI-JP 19 16543601 16543601 single base substitution A G downstream_gene_variant LIRI-JP 19 16543601 16543601 single base substitution A G intron_variant LIRI-JP 19 16547460 16547460 single base substitution T C downstream_gene_variant LIRI-JP 19 16547460 16547460 single base substitution T C exon_variant LIRI-JP 19 16547460 16547460 single base substitution T C intron_variant LIRI-JP 19 16547460 16547460 single base substitution T C upstream_gene_variant LIRI-JP 19 16547713 16547713 single base substitution G A downstream_gene_variant LIRI-JP 19 16547713 16547713 single base substitution G A exon_variant LIRI-JP 19 16547713 16547713 single base substitution G A intron_variant LIRI-JP 19 16547713 16547713 single base substitution G A upstream_gene_variant LIRI-JP 19 16548145 16548145 single base substitution T C downstream_gene_variant LIRI-JP 19 16548145 16548145 single base substitution T C intron_variant LIRI-JP 19 16548145 16548145 single base substitution T C upstream_gene_variant LIRI-JP 19 16548453 16548453 single base substitution T A downstream_gene_variant LIRI-JP 19 16548453 16548453 single base substitution T A intron_variant LIRI-JP 19 16548453 16548453 single base substitution T A upstream_gene_variant LIRI-JP 19 16549273 16549273 single base substitution G C downstream_gene_variant LIRI-JP 19 16549273 16549273 single base substitution G C intron_variant LIRI-JP 19 16549273 16549273 single base substitution G C upstream_gene_variant LIRI-JP 19 16549811 16549811 single base substitution T C downstream_gene_variant LIRI-JP 19 16549811 16549811 single base substitution T C intron_variant LIRI-JP 19 16549811 16549811 single base substitution T C upstream_gene_variant LIRI-JP 19 16550725 16550725 single base substitution C A downstream_gene_variant LIRI-JP 19 16550725 16550725 single base substitution C A intron_variant LIRI-JP 19 16550725 16550725 single base substitution C A upstream_gene_variant LIRI-JP 19 16551236 16551236 single base substitution T A downstream_gene_variant LIRI-JP 19 16551236 16551236 single base substitution T A intron_variant LIRI-JP 19 16551528 16551528 single base substitution T C 3_prime_UTR_variant LIRI-JP 19 16551528 16551528 single base substitution T C downstream_gene_variant LIRI-JP 19 16551528 16551528 single base substitution T C intron_variant LIRI-JP 19 16551606 16551606 single base substitution G A 3_prime_UTR_variant LIRI-JP 19 16551606 16551606 single base substitution G A downstream_gene_variant LIRI-JP 19 16551606 16551606 single base substitution G A intron_variant LIRI-JP 19 16554048 16554048 single base substitution T C intron_variant LIRI-JP 19 16556257 16556257 single base substitution T C intron_variant LIRI-JP 19 16556720 16556720 single base substitution G A intron_variant LIRI-JP 19 16557417 16557417 single base substitution C T intron_variant LIRI-JP 19 16557504 16557504 single base substitution G T intron_variant LIRI-JP 19 16559169 16559169 single base substitution C T intron_variant LIRI-JP 19 16559513 16559513 single base substitution C T intron_variant LIRI-JP 19 16560767 16560767 single base substitution T C intron_variant LIRI-JP 19 16563980 16563980 single base substitution A T intron_variant LIRI-JP 19 16564964 16564964 single base substitution T C intron_variant LIRI-JP 19 16567193 16567193 single base substitution C A intron_variant LIRI-JP 19 16567337 16567337 single base substitution G A intron_variant LIRI-JP 19 16567954 16567954 single base substitution G A intron_variant LIRI-JP 19 16568626 16568626 single base substitution C T intron_variant LIRI-JP 19 16569248 16569248 single base substitution G A intron_variant LIRI-JP 19 16570521 16570521 single base substitution T A intron_variant LIRI-JP 19 16570543 16570543 single base substitution T A intron_variant LIRI-JP 19 16571170 16571170 single base substitution C A intron_variant LIRI-JP 19 16571264 16571264 single base substitution T A intron_variant LIRI-JP 19 16571425 16571425 single base substitution C A intron_variant LIRI-JP 19 16574345 16574345 single base substitution C A intron_variant LIRI-JP 19 16574898 16574900 deletion of <=200bp GAG - intron_variant LIRI-JP 19 16575085 16575085 single base substitution A G intron_variant LIRI-JP 19 16580319 16580319 single base substitution C A intron_variant LIRI-JP 19 16581818 16581818 single base substitution G T intron_variant LIRI-JP 19 16581821 16581821 single base substitution T G intron_variant LUSC-KR 19 16464461 16464461 single base substitution C T downstream_gene_variant LUSC-KR 19 16471173 16471173 single base substitution G C downstream_gene_variant LUSC-KR 19 16471173 16471173 single base substitution G C intron_variant LUSC-KR 19 16471620 16471620 single base substitution C A downstream_gene_variant LUSC-KR 19 16471620 16471620 single base substitution C A intron_variant LUSC-KR 19 16471800 16471800 single base substitution C T downstream_gene_variant LUSC-KR 19 16471800 16471800 single base substitution C T intron_variant LUSC-KR 19 16472357 16472357 single base substitution G A downstream_gene_variant LUSC-KR 19 16472357 16472357 single base substitution G A intron_variant LUSC-KR 19 16486320 16486320 single base substitution T C intron_variant LUSC-KR 19 16488146 16488146 single base substitution C A intron_variant LUSC-KR 19 16493701 16493701 single base substitution C G downstream_gene_variant LUSC-KR 19 16493701 16493701 single base substitution C G intron_variant LUSC-KR 19 16497179 16497179 single base substitution C T intron_variant LUSC-KR 19 16509455 16509455 single base substitution C G downstream_gene_variant LUSC-KR 19 16509455 16509455 single base substitution C G intron_variant LUSC-KR 19 16527506 16527506 single base substitution G A downstream_gene_variant LUSC-KR 19 16527506 16527506 single base substitution G A intron_variant LUSC-KR 19 16530678 16530678 single base substitution G A intron_variant LUSC-KR 19 16531039 16531039 single base substitution G A downstream_gene_variant LUSC-KR 19 16531039 16531039 single base substitution G A intron_variant LUSC-KR 19 16533020 16533020 single base substitution T C downstream_gene_variant LUSC-KR 19 16533020 16533020 single base substitution T C intron_variant LUSC-KR 19 16533020 16533020 single base substitution T C upstream_gene_variant LUSC-KR 19 16535605 16535605 single base substitution G A downstream_gene_variant LUSC-KR 19 16535605 16535605 single base substitution G A intron_variant LUSC-KR 19 16535605 16535605 single base substitution G A upstream_gene_variant LUSC-KR 19 16539333 16539333 single base substitution T A downstream_gene_variant LUSC-KR 19 16539333 16539333 single base substitution T A intron_variant LUSC-KR 19 16540893 16540893 single base substitution C A intron_variant LUSC-KR 19 16548354 16548354 single base substitution T C downstream_gene_variant LUSC-KR 19 16548354 16548354 single base substitution T C intron_variant LUSC-KR 19 16548354 16548354 single base substitution T C upstream_gene_variant LUSC-KR 19 16552227 16552227 single base substitution G C downstream_gene_variant LUSC-KR 19 16552227 16552227 single base substitution G C intron_variant LUSC-KR 19 16552335 16552335 single base substitution G C exon_variant LUSC-KR 19 16552335 16552335 single base substitution G C intron_variant LUSC-KR 19 16553137 16553137 single base substitution G C intron_variant LUSC-KR 19 16553662 16553662 single base substitution G C intron_variant LUSC-KR 19 16554997 16554997 single base substitution G C intron_variant LUSC-KR 19 16555871 16555871 single base substitution G C intron_variant LUSC-KR 19 16557029 16557029 single base substitution G A intron_variant LUSC-KR 19 16563875 16563875 single base substitution T A intron_variant LUSC-KR 19 16566348 16566348 single base substitution G C intron_variant LUSC-KR 19 16566814 16566814 single base substitution C T intron_variant LUSC-KR 19 16583664 16583664 single base substitution T C upstream_gene_variant LUSC-US 19 16506271 16506271 single base substitution G C 3_prime_UTR_variant LUSC-US 19 16506271 16506271 single base substitution G C exon_variant LUSC-US 19 16506271 16506271 single base substitution G C missense_variant P600R 1799C>G LUSC-US 19 16506271 16506271 single base substitution G C missense_variant P602R 1805C>G LUSC-US 19 16506271 16506271 single base substitution G C missense_variant P62R 185C>G LUSC-US 19 16514640 16514640 single base substitution C T 3_prime_UTR_variant LUSC-US 19 16514640 16514640 single base substitution C T exon_variant LUSC-US 19 16514640 16514640 single base substitution C T synonymous_variant Q356Q 1068G>A LUSC-US 19 16514640 16514640 single base substitution C T synonymous_variant Q510Q 1530G>A LUSC-US 19 16514640 16514640 single base substitution C T upstream_gene_variant LUSC-US 19 16535895 16535895 single base substitution T C downstream_gene_variant LUSC-US 19 16535895 16535895 single base substitution T C missense_variant Q110R 329A>G LUSC-US 19 16535895 16535895 single base substitution T C missense_variant Q264R 791A>G LUSC-US 19 16535895 16535895 single base substitution T C splice_region_variant LUSC-US 19 16535895 16535895 single base substitution T C upstream_gene_variant MALY-DE 19 16461568 16461568 deletion of <=200bp A - downstream_gene_variant MALY-DE 19 16472932 16472932 single base substitution G A intron_variant MALY-DE 19 16472932 16472932 single base substitution G A upstream_gene_variant MALY-DE 19 16477617 16477617 single base substitution C A intron_variant MALY-DE 19 16477617 16477617 single base substitution C A upstream_gene_variant MALY-DE 19 16493290 16493290 single base substitution C T downstream_gene_variant MALY-DE 19 16493290 16493290 single base substitution C T intron_variant MALY-DE 19 16497917 16497917 single base substitution G A intron_variant MALY-DE 19 16519042 16519042 single base substitution A T intron_variant MALY-DE 19 16519042 16519042 single base substitution A T upstream_gene_variant MALY-DE 19 16524202 16524202 single base substitution C T downstream_gene_variant MALY-DE 19 16524202 16524202 single base substitution C T intron_variant MALY-DE 19 16524818 16524818 single base substitution T A downstream_gene_variant MALY-DE 19 16524818 16524818 single base substitution T A intron_variant MALY-DE 19 16528326 16528326 single base substitution C T exon_variant MALY-DE 19 16528326 16528326 single base substitution C T intron_variant MALY-DE 19 16532248 16532248 single base substitution G A 3_prime_UTR_variant MALY-DE 19 16532248 16532248 single base substitution G A downstream_gene_variant MALY-DE 19 16532248 16532248 single base substitution G A exon_variant MALY-DE 19 16532248 16532248 single base substitution G A stop_gained R124* 370C>T MALY-DE 19 16532248 16532248 single base substitution G A stop_gained R278* 832C>T MALY-DE 19 16532248 16532248 single base substitution G A upstream_gene_variant MALY-DE 19 16566318 16566318 single base substitution G A intron_variant MALY-DE 19 16573701 16573701 single base substitution C A intron_variant MALY-DE 19 16575541 16575541 insertion of <=200bp - ACACTAACACTA intron_variant MALY-DE 19 16581039 16581039 single base substitution A T intron_variant MALY-DE 19 16583625 16583625 single base substitution A T upstream_gene_variant MALY-DE 19 16587129 16587129 single base substitution T A upstream_gene_variant MALY-DE 19 16587138 16587138 single base substitution C T upstream_gene_variant MELA-AU 19 16461451 16461451 single base substitution G A downstream_gene_variant MELA-AU 19 16461803 16461803 single base substitution G A downstream_gene_variant MELA-AU 19 16461997 16461997 single base substitution C T downstream_gene_variant MELA-AU 19 16462242 16462242 single base substitution G C downstream_gene_variant MELA-AU 19 16462436 16462436 single base substitution C T downstream_gene_variant MELA-AU 19 16462473 16462473 single base substitution G A downstream_gene_variant MELA-AU 19 16462692 16462692 single base substitution G A downstream_gene_variant MELA-AU 19 16463080 16463080 single base substitution G A downstream_gene_variant MELA-AU 19 16463081 16463081 single base substitution G A downstream_gene_variant MELA-AU 19 16463187 16463187 single base substitution G A downstream_gene_variant MELA-AU 19 16463270 16463270 single base substitution G A downstream_gene_variant MELA-AU 19 16463414 16463414 single base substitution A T downstream_gene_variant MELA-AU 19 16463521 16463521 single base substitution C T downstream_gene_variant MELA-AU 19 16463558 16463558 single base substitution G A downstream_gene_variant MELA-AU 19 16463851 16463851 single base substitution G A downstream_gene_variant MELA-AU 19 16464362 16464362 single base substitution G A downstream_gene_variant MELA-AU 19 16464568 16464568 single base substitution C T downstream_gene_variant MELA-AU 19 16464760 16464760 single base substitution G A downstream_gene_variant MELA-AU 19 16465524 16465524 single base substitution T A downstream_gene_variant MELA-AU 19 16465600 16465600 single base substitution G A downstream_gene_variant MELA-AU 19 16466724 16466724 single base substitution G C intron_variant MELA-AU 19 16467258 16467258 single base substitution G A intron_variant MELA-AU 19 16467370 16467370 single base substitution C T intron_variant MELA-AU 19 16467724 16467724 single base substitution C T downstream_gene_variant MELA-AU 19 16467724 16467724 single base substitution C T intron_variant MELA-AU 19 16467921 16467921 single base substitution C T downstream_gene_variant MELA-AU 19 16467921 16467921 single base substitution C T intron_variant MELA-AU 19 16468251 16468251 single base substitution G A downstream_gene_variant MELA-AU 19 16468251 16468251 single base substitution G A intron_variant MELA-AU 19 16468269 16468269 single base substitution G A downstream_gene_variant MELA-AU 19 16468269 16468269 single base substitution G A intron_variant MELA-AU 19 16468604 16468604 single base substitution G A downstream_gene_variant MELA-AU 19 16468604 16468604 single base substitution G A intron_variant MELA-AU 19 16468780 16468780 single base substitution G A downstream_gene_variant MELA-AU 19 16468780 16468780 single base substitution G A intron_variant MELA-AU 19 16469607 16469607 single base substitution G A downstream_gene_variant MELA-AU 19 16469607 16469607 single base substitution G A intron_variant MELA-AU 19 16470323 16470323 single base substitution C T downstream_gene_variant MELA-AU 19 16470323 16470323 single base substitution C T intron_variant MELA-AU 19 16470394 16470395 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 16470394 16470395 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 16470899 16470899 single base substitution G A downstream_gene_variant MELA-AU 19 16470899 16470899 single base substitution G A intron_variant MELA-AU 19 16470907 16470907 single base substitution G A downstream_gene_variant MELA-AU 19 16470907 16470907 single base substitution G A intron_variant MELA-AU 19 16471269 16471269 single base substitution G A downstream_gene_variant MELA-AU 19 16471269 16471269 single base substitution G A intron_variant MELA-AU 19 16471793 16471793 single base substitution G A downstream_gene_variant MELA-AU 19 16471793 16471793 single base substitution G A intron_variant MELA-AU 19 16472024 16472024 single base substitution G A downstream_gene_variant MELA-AU 19 16472024 16472024 single base substitution G A intron_variant MELA-AU 19 16472413 16472413 single base substitution G A 3_prime_UTR_variant MELA-AU 19 16472413 16472413 single base substitution G A downstream_gene_variant MELA-AU 19 16472413 16472413 single base substitution G A intron_variant MELA-AU 19 16472824 16472824 single base substitution A T intron_variant MELA-AU 19 16472824 16472824 single base substitution A T upstream_gene_variant MELA-AU 19 16473236 16473236 single base substitution G A intron_variant MELA-AU 19 16473236 16473236 single base substitution G A upstream_gene_variant MELA-AU 19 16473438 16473438 single base substitution G A intron_variant MELA-AU 19 16473438 16473438 single base substitution G A upstream_gene_variant MELA-AU 19 16473511 16473511 single base substitution G A intron_variant MELA-AU 19 16473511 16473511 single base substitution G A upstream_gene_variant MELA-AU 19 16473814 16473814 single base substitution T C intron_variant MELA-AU 19 16473814 16473814 single base substitution T C upstream_gene_variant MELA-AU 19 16474244 16474244 single base substitution G A intron_variant MELA-AU 19 16474244 16474244 single base substitution G A upstream_gene_variant MELA-AU 19 16474469 16474469 single base substitution G A intron_variant MELA-AU 19 16474469 16474469 single base substitution G A upstream_gene_variant MELA-AU 19 16474692 16474692 single base substitution G A intron_variant MELA-AU 19 16474692 16474692 single base substitution G A upstream_gene_variant MELA-AU 19 16474732 16474732 single base substitution C T intron_variant MELA-AU 19 16474732 16474732 single base substitution C T upstream_gene_variant MELA-AU 19 16475041 16475041 single base substitution G A intron_variant MELA-AU 19 16475041 16475041 single base substitution G A upstream_gene_variant MELA-AU 19 16475528 16475528 single base substitution G A intron_variant MELA-AU 19 16475528 16475528 single base substitution G A upstream_gene_variant MELA-AU 19 16475598 16475598 single base substitution G A intron_variant MELA-AU 19 16475598 16475598 single base substitution G A upstream_gene_variant MELA-AU 19 16475689 16475689 single base substitution C T intron_variant MELA-AU 19 16475689 16475689 single base substitution C T upstream_gene_variant MELA-AU 19 16475975 16475975 single base substitution G A intron_variant MELA-AU 19 16475975 16475975 single base substitution G A upstream_gene_variant MELA-AU 19 16476532 16476532 single base substitution C T intron_variant MELA-AU 19 16476532 16476532 single base substitution C T upstream_gene_variant MELA-AU 19 16476782 16476782 single base substitution G A intron_variant MELA-AU 19 16476782 16476782 single base substitution G A upstream_gene_variant MELA-AU 19 16476980 16476980 single base substitution G T intron_variant MELA-AU 19 16476980 16476980 single base substitution G T upstream_gene_variant MELA-AU 19 16476981 16476981 single base substitution G A intron_variant MELA-AU 19 16476981 16476981 single base substitution G A upstream_gene_variant MELA-AU 19 16477218 16477218 single base substitution A C intron_variant MELA-AU 19 16477218 16477218 single base substitution A C upstream_gene_variant MELA-AU 19 16477446 16477446 single base substitution A T intron_variant MELA-AU 19 16477446 16477446 single base substitution A T upstream_gene_variant MELA-AU 19 16478159 16478159 single base substitution G A intron_variant MELA-AU 19 16478673 16478673 single base substitution G A intron_variant MELA-AU 19 16478991 16478991 single base substitution G A intron_variant MELA-AU 19 16479317 16479317 single base substitution C T intron_variant MELA-AU 19 16479948 16479948 single base substitution G A intron_variant MELA-AU 19 16480933 16480933 single base substitution G A intron_variant MELA-AU 19 16481221 16481221 single base substitution G A intron_variant MELA-AU 19 16481637 16481637 single base substitution C T intron_variant MELA-AU 19 16481705 16481705 single base substitution G A intron_variant MELA-AU 19 16481710 16481710 single base substitution G A intron_variant MELA-AU 19 16481862 16481862 single base substitution G A intron_variant MELA-AU 19 16482339 16482339 single base substitution G A intron_variant MELA-AU 19 16482476 16482476 single base substitution G A intron_variant MELA-AU 19 16482853 16482853 single base substitution A G intron_variant MELA-AU 19 16482955 16482955 single base substitution G A intron_variant MELA-AU 19 16483091 16483092 multiple base substitution (>=2bp and <=200bp) TC GT intron_variant MELA-AU 19 16483298 16483298 single base substitution G A intron_variant MELA-AU 19 16483452 16483452 single base substitution G A intron_variant MELA-AU 19 16483613 16483613 single base substitution G A intron_variant MELA-AU 19 16483704 16483704 single base substitution G A intron_variant MELA-AU 19 16484831 16484831 single base substitution C T intron_variant MELA-AU 19 16484831 16484832 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 16485399 16485399 single base substitution G A intron_variant MELA-AU 19 16485419 16485419 single base substitution G A intron_variant MELA-AU 19 16485420 16485420 single base substitution G A intron_variant MELA-AU 19 16486665 16486666 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 16486941 16486941 single base substitution G A intron_variant MELA-AU 19 16488294 16488294 single base substitution G A intron_variant MELA-AU 19 16488322 16488322 single base substitution G A intron_variant MELA-AU 19 16488362 16488362 single base substitution C T intron_variant MELA-AU 19 16488615 16488616 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 16488907 16488907 single base substitution G A downstream_gene_variant MELA-AU 19 16488907 16488907 single base substitution G A intron_variant MELA-AU 19 16488910 16488910 single base substitution G A downstream_gene_variant MELA-AU 19 16488910 16488910 single base substitution G A intron_variant MELA-AU 19 16489400 16489401 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 16489400 16489401 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 16489744 16489744 single base substitution A C downstream_gene_variant MELA-AU 19 16489744 16489744 single base substitution A C intron_variant MELA-AU 19 16490528 16490528 single base substitution G A downstream_gene_variant MELA-AU 19 16490528 16490528 single base substitution G A intron_variant MELA-AU 19 16490555 16490555 single base substitution G A downstream_gene_variant MELA-AU 19 16490555 16490555 single base substitution G A intron_variant MELA-AU 19 16490592 16490592 single base substitution A C downstream_gene_variant MELA-AU 19 16490592 16490592 single base substitution A C intron_variant MELA-AU 19 16490643 16490643 single base substitution C T downstream_gene_variant MELA-AU 19 16490643 16490643 single base substitution C T intron_variant MELA-AU 19 16490997 16490997 single base substitution G A downstream_gene_variant MELA-AU 19 16490997 16490997 single base substitution G A intron_variant MELA-AU 19 16491844 16491844 single base substitution G A downstream_gene_variant MELA-AU 19 16491844 16491844 single base substitution G A intron_variant MELA-AU 19 16491963 16491963 single base substitution G A downstream_gene_variant MELA-AU 19 16491963 16491963 single base substitution G A intron_variant MELA-AU 19 16492546 16492546 single base substitution G A downstream_gene_variant MELA-AU 19 16492546 16492546 single base substitution G A intron_variant MELA-AU 19 16492565 16492565 single base substitution G A downstream_gene_variant MELA-AU 19 16492565 16492565 single base substitution G A intron_variant MELA-AU 19 16492743 16492743 single base substitution C A downstream_gene_variant MELA-AU 19 16492743 16492743 single base substitution C A intron_variant MELA-AU 19 16492759 16492759 single base substitution G A downstream_gene_variant MELA-AU 19 16492759 16492759 single base substitution G A intron_variant MELA-AU 19 16493160 16493160 single base substitution G A downstream_gene_variant MELA-AU 19 16493160 16493160 single base substitution G A intron_variant MELA-AU 19 16493272 16493272 single base substitution C T downstream_gene_variant MELA-AU 19 16493272 16493272 single base substitution C T intron_variant MELA-AU 19 16493505 16493505 single base substitution G A downstream_gene_variant MELA-AU 19 16493505 16493505 single base substitution G A intron_variant MELA-AU 19 16493745 16493745 single base substitution G A downstream_gene_variant MELA-AU 19 16493745 16493745 single base substitution G A intron_variant MELA-AU 19 16494027 16494027 single base substitution G A 3_prime_UTR_variant MELA-AU 19 16494027 16494027 single base substitution G A intron_variant MELA-AU 19 16494605 16494605 single base substitution G A 3_prime_UTR_variant MELA-AU 19 16494605 16494605 single base substitution G A intron_variant MELA-AU 19 16494770 16494770 single base substitution C A 3_prime_UTR_variant MELA-AU 19 16494770 16494770 single base substitution C A intron_variant MELA-AU 19 16494807 16494807 single base substitution G A 3_prime_UTR_variant MELA-AU 19 16494807 16494807 single base substitution G A intron_variant MELA-AU 19 16494881 16494881 single base substitution G A 3_prime_UTR_variant MELA-AU 19 16494881 16494881 single base substitution G A intron_variant MELA-AU 19 16495139 16495139 single base substitution G A intron_variant MELA-AU 19 16495372 16495372 single base substitution G A intron_variant MELA-AU 19 16495495 16495495 single base substitution G A intron_variant MELA-AU 19 16496002 16496002 single base substitution G A 3_prime_UTR_variant MELA-AU 19 16496002 16496002 single base substitution G A exon_variant MELA-AU 19 16496002 16496002 single base substitution G A missense_variant P191S 571C>T MELA-AU 19 16496002 16496002 single base substitution G A missense_variant P729S 2185C>T MELA-AU 19 16496002 16496002 single base substitution G A missense_variant P731S 2191C>T MELA-AU 19 16498226 16498226 single base substitution T A intron_variant MELA-AU 19 16498489 16498489 single base substitution A G intron_variant MELA-AU 19 16498691 16498691 single base substitution G C intron_variant MELA-AU 19 16498852 16498852 single base substitution A T intron_variant MELA-AU 19 16499027 16499027 single base substitution T C intron_variant MELA-AU 19 16499041 16499041 single base substitution G A intron_variant MELA-AU 19 16499421 16499421 single base substitution G A intron_variant MELA-AU 19 16500087 16500087 single base substitution G A intron_variant MELA-AU 19 16500192 16500192 single base substitution G A intron_variant MELA-AU 19 16500884 16500884 single base substitution G A intron_variant MELA-AU 19 16500885 16500885 single base substitution G A intron_variant MELA-AU 19 16501017 16501017 single base substitution A C intron_variant MELA-AU 19 16501267 16501267 single base substitution A T intron_variant MELA-AU 19 16501669 16501669 single base substitution G A intron_variant MELA-AU 19 16501961 16501961 single base substitution G A intron_variant MELA-AU 19 16502705 16502705 single base substitution G A intron_variant MELA-AU 19 16503313 16503313 single base substitution G A intron_variant MELA-AU 19 16503657 16503657 single base substitution G A intron_variant MELA-AU 19 16504167 16504167 single base substitution A C intron_variant MELA-AU 19 16504250 16504250 single base substitution A C intron_variant MELA-AU 19 16504612 16504612 single base substitution G A intron_variant MELA-AU 19 16504802 16504802 single base substitution G A 3_prime_UTR_variant MELA-AU 19 16504802 16504802 single base substitution G A exon_variant MELA-AU 19 16504802 16504802 single base substitution G A synonymous_variant F104F 312C>T MELA-AU 19 16504802 16504802 single base substitution G A synonymous_variant F642F 1926C>T MELA-AU 19 16504802 16504802 single base substitution G A synonymous_variant F644F 1932C>T MELA-AU 19 16504930 16504930 single base substitution G A intron_variant MELA-AU 19 16505080 16505080 single base substitution G A intron_variant MELA-AU 19 16506215 16506215 single base substitution G A 3_prime_UTR_variant MELA-AU 19 16506215 16506215 single base substitution G A exon_variant MELA-AU 19 16506215 16506215 single base substitution G A missense_variant P619S 1855C>T MELA-AU 19 16506215 16506215 single base substitution G A missense_variant P621S 1861C>T MELA-AU 19 16506215 16506215 single base substitution G A missense_variant P81S 241C>T MELA-AU 19 16506530 16506530 single base substitution G A downstream_gene_variant MELA-AU 19 16506530 16506530 single base substitution G A intron_variant MELA-AU 19 16506562 16506562 single base substitution C T downstream_gene_variant MELA-AU 19 16506562 16506562 single base substitution C T intron_variant MELA-AU 19 16506735 16506735 single base substitution G A downstream_gene_variant MELA-AU 19 16506735 16506735 single base substitution G A intron_variant MELA-AU 19 16507091 16507091 single base substitution G A downstream_gene_variant MELA-AU 19 16507091 16507091 single base substitution G A intron_variant MELA-AU 19 16507478 16507478 single base substitution G A downstream_gene_variant MELA-AU 19 16507478 16507478 single base substitution G A intron_variant MELA-AU 19 16507671 16507671 single base substitution A C downstream_gene_variant MELA-AU 19 16507671 16507671 single base substitution A C intron_variant MELA-AU 19 16507770 16507770 single base substitution G A downstream_gene_variant MELA-AU 19 16507770 16507770 single base substitution G A intron_variant MELA-AU 19 16507949 16507949 single base substitution G A downstream_gene_variant MELA-AU 19 16507949 16507949 single base substitution G A intron_variant MELA-AU 19 16509405 16509405 single base substitution C T downstream_gene_variant MELA-AU 19 16509405 16509405 single base substitution C T intron_variant MELA-AU 19 16509478 16509478 single base substitution G A downstream_gene_variant MELA-AU 19 16509478 16509478 single base substitution G A intron_variant MELA-AU 19 16510193 16510193 single base substitution G A downstream_gene_variant MELA-AU 19 16510193 16510193 single base substitution G A intron_variant MELA-AU 19 16510658 16510658 single base substitution G A downstream_gene_variant MELA-AU 19 16510658 16510658 single base substitution G A intron_variant MELA-AU 19 16511333 16511333 single base substitution G A downstream_gene_variant MELA-AU 19 16511333 16511333 single base substitution G A intron_variant MELA-AU 19 16511680 16511680 single base substitution G A 3_prime_UTR_variant MELA-AU 19 16511680 16511680 single base substitution G A intron_variant MELA-AU 19 16511818 16511818 single base substitution G A 3_prime_UTR_variant MELA-AU 19 16511818 16511818 single base substitution G A intron_variant MELA-AU 19 16511913 16511913 single base substitution G A 3_prime_UTR_variant MELA-AU 19 16511913 16511913 single base substitution G A intron_variant MELA-AU 19 16512019 16512020 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 19 16512019 16512020 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 16512050 16512050 single base substitution C T 3_prime_UTR_variant MELA-AU 19 16512050 16512050 single base substitution C T intron_variant MELA-AU 19 16512323 16512323 single base substitution G A 3_prime_UTR_variant MELA-AU 19 16512323 16512323 single base substitution G A intron_variant MELA-AU 19 16512378 16512378 single base substitution G A 3_prime_UTR_variant MELA-AU 19 16512378 16512378 single base substitution G A intron_variant MELA-AU 19 16512398 16512398 single base substitution C T 3_prime_UTR_variant MELA-AU 19 16512398 16512398 single base substitution C T intron_variant MELA-AU 19 16512874 16512875 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 19 16512874 16512875 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 16513040 16513040 single base substitution G A 3_prime_UTR_variant MELA-AU 19 16513040 16513040 single base substitution G A intron_variant MELA-AU 19 16513188 16513188 single base substitution G A 3_prime_UTR_variant MELA-AU 19 16513188 16513188 single base substitution G A exon_variant MELA-AU 19 16513188 16513188 single base substitution G A synonymous_variant L41L 121C>T MELA-AU 19 16513188 16513188 single base substitution G A synonymous_variant L425L 1273C>T MELA-AU 19 16513188 16513188 single base substitution G A synonymous_variant L579L 1735C>T MELA-AU 19 16513910 16513910 single base substitution C T intron_variant MELA-AU 19 16514324 16514324 single base substitution A C intron_variant MELA-AU 19 16514330 16514330 single base substitution G A intron_variant MELA-AU 19 16514487 16514487 single base substitution G A intron_variant MELA-AU 19 16514495 16514495 single base substitution G A intron_variant MELA-AU 19 16514703 16514703 single base substitution A G 3_prime_UTR_variant MELA-AU 19 16514703 16514703 single base substitution A G exon_variant MELA-AU 19 16514703 16514703 single base substitution A G synonymous_variant S335S 1005T>C MELA-AU 19 16514703 16514703 single base substitution A G synonymous_variant S489S 1467T>C MELA-AU 19 16514703 16514703 single base substitution A G upstream_gene_variant MELA-AU 19 16514836 16514836 single base substitution G A intron_variant MELA-AU 19 16514836 16514836 single base substitution G A upstream_gene_variant MELA-AU 19 16515596 16515596 single base substitution G A intron_variant MELA-AU 19 16515596 16515596 single base substitution G A upstream_gene_variant MELA-AU 19 16515687 16515687 single base substitution G A intron_variant MELA-AU 19 16515687 16515687 single base substitution G A upstream_gene_variant MELA-AU 19 16515837 16515837 single base substitution G A intron_variant MELA-AU 19 16515837 16515837 single base substitution G A upstream_gene_variant MELA-AU 19 16515934 16515934 single base substitution G A intron_variant MELA-AU 19 16515934 16515934 single base substitution G A upstream_gene_variant MELA-AU 19 16516035 16516035 single base substitution G A intron_variant MELA-AU 19 16516035 16516035 single base substitution G A upstream_gene_variant MELA-AU 19 16517321 16517321 single base substitution G A intron_variant MELA-AU 19 16517321 16517321 single base substitution G A upstream_gene_variant MELA-AU 19 16518286 16518286 single base substitution G A intron_variant MELA-AU 19 16518286 16518286 single base substitution G A upstream_gene_variant MELA-AU 19 16518343 16518343 single base substitution G A intron_variant MELA-AU 19 16518343 16518343 single base substitution G A upstream_gene_variant MELA-AU 19 16518903 16518903 single base substitution G A intron_variant MELA-AU 19 16518903 16518903 single base substitution G A upstream_gene_variant MELA-AU 19 16519017 16519017 single base substitution G A intron_variant MELA-AU 19 16519017 16519017 single base substitution G A upstream_gene_variant MELA-AU 19 16519076 16519076 single base substitution G A intron_variant MELA-AU 19 16519076 16519076 single base substitution G A upstream_gene_variant MELA-AU 19 16519977 16519977 single base substitution G A intron_variant MELA-AU 19 16520453 16520453 single base substitution C T intron_variant MELA-AU 19 16520634 16520634 single base substitution A G intron_variant MELA-AU 19 16520932 16520932 single base substitution G A intron_variant MELA-AU 19 16521215 16521215 single base substitution A T intron_variant MELA-AU 19 16521415 16521415 single base substitution G A intron_variant MELA-AU 19 16521504 16521504 single base substitution T A intron_variant MELA-AU 19 16521591 16521591 single base substitution G A intron_variant MELA-AU 19 16521780 16521780 single base substitution G A intron_variant MELA-AU 19 16521939 16521939 single base substitution G A intron_variant MELA-AU 19 16522021 16522021 single base substitution G A intron_variant MELA-AU 19 16522498 16522498 single base substitution A C intron_variant MELA-AU 19 16522748 16522748 single base substitution G A intron_variant MELA-AU 19 16523411 16523411 single base substitution C T downstream_gene_variant MELA-AU 19 16523411 16523411 single base substitution C T intron_variant MELA-AU 19 16523458 16523458 single base substitution A T downstream_gene_variant MELA-AU 19 16523458 16523458 single base substitution A T intron_variant MELA-AU 19 16523700 16523700 single base substitution A T downstream_gene_variant MELA-AU 19 16523700 16523700 single base substitution A T intron_variant MELA-AU 19 16523743 16523743 single base substitution G A downstream_gene_variant MELA-AU 19 16523743 16523743 single base substitution G A intron_variant MELA-AU 19 16523896 16523897 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 16523896 16523897 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 16524521 16524522 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 16524521 16524522 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 16524559 16524560 multiple base substitution (>=2bp and <=200bp) TA AC downstream_gene_variant MELA-AU 19 16524559 16524560 multiple base substitution (>=2bp and <=200bp) TA AC intron_variant MELA-AU 19 16524569 16524569 single base substitution G A downstream_gene_variant MELA-AU 19 16524569 16524569 single base substitution G A intron_variant MELA-AU 19 16525347 16525347 single base substitution G A downstream_gene_variant MELA-AU 19 16525347 16525347 single base substitution G A intron_variant MELA-AU 19 16525709 16525709 single base substitution G A downstream_gene_variant MELA-AU 19 16525709 16525709 single base substitution G A intron_variant MELA-AU 19 16525835 16525835 single base substitution T C downstream_gene_variant MELA-AU 19 16525835 16525835 single base substitution T C intron_variant MELA-AU 19 16525905 16525905 single base substitution G A downstream_gene_variant MELA-AU 19 16525905 16525905 single base substitution G A intron_variant MELA-AU 19 16525952 16525952 single base substitution C T downstream_gene_variant MELA-AU 19 16525952 16525952 single base substitution C T intron_variant MELA-AU 19 16526105 16526105 single base substitution G A downstream_gene_variant MELA-AU 19 16526105 16526105 single base substitution G A intron_variant MELA-AU 19 16526208 16526208 single base substitution G A downstream_gene_variant MELA-AU 19 16526208 16526208 single base substitution G A intron_variant MELA-AU 19 16526992 16526992 single base substitution C T downstream_gene_variant MELA-AU 19 16526992 16526992 single base substitution C T intron_variant MELA-AU 19 16527049 16527049 single base substitution C T downstream_gene_variant MELA-AU 19 16527049 16527049 single base substitution C T intron_variant MELA-AU 19 16527206 16527206 single base substitution G A downstream_gene_variant MELA-AU 19 16527206 16527206 single base substitution G A intron_variant MELA-AU 19 16527339 16527339 single base substitution C T downstream_gene_variant MELA-AU 19 16527339 16527339 single base substitution C T intron_variant MELA-AU 19 16527767 16527767 single base substitution G A downstream_gene_variant MELA-AU 19 16527767 16527767 single base substitution G A intron_variant MELA-AU 19 16528029 16528029 single base substitution G A downstream_gene_variant MELA-AU 19 16528029 16528029 single base substitution G A intron_variant MELA-AU 19 16528119 16528119 single base substitution C T downstream_gene_variant MELA-AU 19 16528119 16528119 single base substitution C T intron_variant MELA-AU 19 16528446 16528446 single base substitution G A splice_region_variant MELA-AU 19 16528466 16528466 single base substitution G A intron_variant MELA-AU 19 16528931 16528931 single base substitution G A intron_variant MELA-AU 19 16529549 16529549 single base substitution G A intron_variant MELA-AU 19 16529771 16529772 multiple base substitution (>=2bp and <=200bp) CA AT intron_variant MELA-AU 19 16530245 16530245 single base substitution G A intron_variant MELA-AU 19 16530313 16530313 single base substitution G A intron_variant MELA-AU 19 16530653 16530653 single base substitution G A intron_variant MELA-AU 19 16531408 16531408 single base substitution T G downstream_gene_variant MELA-AU 19 16531408 16531408 single base substitution T G intron_variant MELA-AU 19 16531606 16531606 single base substitution G A downstream_gene_variant MELA-AU 19 16531606 16531606 single base substitution G A intron_variant MELA-AU 19 16532004 16532004 single base substitution G A downstream_gene_variant MELA-AU 19 16532004 16532004 single base substitution G A intron_variant MELA-AU 19 16532756 16532756 single base substitution C T downstream_gene_variant MELA-AU 19 16532756 16532756 single base substitution C T intron_variant MELA-AU 19 16532756 16532756 single base substitution C T upstream_gene_variant MELA-AU 19 16533320 16533320 single base substitution G A downstream_gene_variant MELA-AU 19 16533320 16533320 single base substitution G A intron_variant MELA-AU 19 16533320 16533320 single base substitution G A upstream_gene_variant MELA-AU 19 16533592 16533592 single base substitution A G downstream_gene_variant MELA-AU 19 16533592 16533592 single base substitution A G intron_variant MELA-AU 19 16533592 16533592 single base substitution A G upstream_gene_variant MELA-AU 19 16533614 16533614 single base substitution G A downstream_gene_variant MELA-AU 19 16533614 16533614 single base substitution G A intron_variant MELA-AU 19 16533614 16533614 single base substitution G A upstream_gene_variant MELA-AU 19 16533745 16533745 single base substitution G A downstream_gene_variant MELA-AU 19 16533745 16533745 single base substitution G A intron_variant MELA-AU 19 16533745 16533745 single base substitution G A upstream_gene_variant MELA-AU 19 16533783 16533783 single base substitution G A downstream_gene_variant MELA-AU 19 16533783 16533783 single base substitution G A intron_variant MELA-AU 19 16533783 16533783 single base substitution G A upstream_gene_variant MELA-AU 19 16534662 16534662 single base substitution G A downstream_gene_variant MELA-AU 19 16534662 16534662 single base substitution G A intron_variant MELA-AU 19 16534662 16534662 single base substitution G A upstream_gene_variant MELA-AU 19 16535032 16535032 single base substitution G A downstream_gene_variant MELA-AU 19 16535032 16535032 single base substitution G A intron_variant MELA-AU 19 16535032 16535032 single base substitution G A upstream_gene_variant MELA-AU 19 16535968 16535968 single base substitution G A 3_prime_UTR_variant MELA-AU 19 16535968 16535968 single base substitution G A downstream_gene_variant MELA-AU 19 16535968 16535968 single base substitution G A exon_variant MELA-AU 19 16535968 16535968 single base substitution G A missense_variant P240S 718C>T MELA-AU 19 16535968 16535968 single base substitution G A missense_variant P86S 256C>T MELA-AU 19 16535968 16535968 single base substitution G A upstream_gene_variant MELA-AU 19 16536059 16536059 single base substitution G A 3_prime_UTR_variant MELA-AU 19 16536059 16536059 single base substitution G A downstream_gene_variant MELA-AU 19 16536059 16536059 single base substitution G A exon_variant MELA-AU 19 16536059 16536059 single base substitution G A synonymous_variant I209I 627C>T MELA-AU 19 16536059 16536059 single base substitution G A synonymous_variant I55I 165C>T MELA-AU 19 16536059 16536059 single base substitution G A upstream_gene_variant MELA-AU 19 16536543 16536543 single base substitution G A downstream_gene_variant MELA-AU 19 16536543 16536543 single base substitution G A intron_variant MELA-AU 19 16536543 16536543 single base substitution G A upstream_gene_variant MELA-AU 19 16537031 16537031 single base substitution G A downstream_gene_variant MELA-AU 19 16537031 16537031 single base substitution G A intron_variant MELA-AU 19 16537031 16537031 single base substitution G A upstream_gene_variant MELA-AU 19 16537596 16537596 single base substitution G A downstream_gene_variant MELA-AU 19 16537596 16537596 single base substitution G A intron_variant MELA-AU 19 16537915 16537915 single base substitution G A downstream_gene_variant MELA-AU 19 16537915 16537915 single base substitution G A intron_variant MELA-AU 19 16538572 16538572 single base substitution G A downstream_gene_variant MELA-AU 19 16538572 16538572 single base substitution G A intron_variant MELA-AU 19 16538726 16538726 single base substitution G A downstream_gene_variant MELA-AU 19 16538726 16538726 single base substitution G A intron_variant MELA-AU 19 16538931 16538931 single base substitution G A downstream_gene_variant MELA-AU 19 16538931 16538931 single base substitution G A intron_variant MELA-AU 19 16539368 16539368 single base substitution G A downstream_gene_variant MELA-AU 19 16539368 16539368 single base substitution G A intron_variant MELA-AU 19 16539378 16539378 single base substitution G A downstream_gene_variant MELA-AU 19 16539378 16539378 single base substitution G A intron_variant MELA-AU 19 16539389 16539389 single base substitution G A downstream_gene_variant MELA-AU 19 16539389 16539389 single base substitution G A intron_variant MELA-AU 19 16540610 16540610 single base substitution G A intron_variant MELA-AU 19 16540883 16540883 single base substitution G A intron_variant MELA-AU 19 16541273 16541273 single base substitution G A intron_variant MELA-AU 19 16541571 16541571 single base substitution G A intron_variant MELA-AU 19 16541637 16541637 single base substitution G A intron_variant MELA-AU 19 16541782 16541782 single base substitution A C intron_variant MELA-AU 19 16541963 16541963 single base substitution T C intron_variant MELA-AU 19 16543514 16543514 single base substitution A C downstream_gene_variant MELA-AU 19 16543514 16543514 single base substitution A C intron_variant MELA-AU 19 16543533 16543533 single base substitution G A downstream_gene_variant MELA-AU 19 16543533 16543533 single base substitution G A intron_variant MELA-AU 19 16543657 16543657 single base substitution T A downstream_gene_variant MELA-AU 19 16543657 16543657 single base substitution T A intron_variant MELA-AU 19 16543836 16543836 single base substitution G A downstream_gene_variant MELA-AU 19 16543836 16543836 single base substitution G A intron_variant MELA-AU 19 16544033 16544033 single base substitution G A downstream_gene_variant MELA-AU 19 16544033 16544033 single base substitution G A intron_variant MELA-AU 19 16544365 16544365 single base substitution G A downstream_gene_variant MELA-AU 19 16544365 16544365 single base substitution G A intron_variant MELA-AU 19 16545124 16545124 single base substitution A G downstream_gene_variant MELA-AU 19 16545124 16545124 single base substitution A G intron_variant MELA-AU 19 16545251 16545251 single base substitution G T 3_prime_UTR_variant MELA-AU 19 16545251 16545251 single base substitution G T 5_prime_UTR_variant MELA-AU 19 16545251 16545251 single base substitution G T downstream_gene_variant MELA-AU 19 16545251 16545251 single base substitution G T exon_variant MELA-AU 19 16545251 16545251 single base substitution G T synonymous_variant I141I 423C>A MELA-AU 19 16545335 16545335 single base substitution G A 5_prime_UTR_variant MELA-AU 19 16545335 16545335 single base substitution G A downstream_gene_variant MELA-AU 19 16545335 16545335 single base substitution G A intron_variant MELA-AU 19 16545362 16545362 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 19 16545362 16545362 single base substitution G A downstream_gene_variant MELA-AU 19 16545362 16545362 single base substitution G A intron_variant MELA-AU 19 16545623 16545623 single base substitution G A 5_prime_UTR_variant MELA-AU 19 16545623 16545623 single base substitution G A downstream_gene_variant MELA-AU 19 16545623 16545623 single base substitution G A intron_variant MELA-AU 19 16546817 16546817 single base substitution C T downstream_gene_variant MELA-AU 19 16546817 16546817 single base substitution C T intron_variant MELA-AU 19 16546817 16546817 single base substitution C T upstream_gene_variant MELA-AU 19 16547713 16547713 single base substitution G A downstream_gene_variant MELA-AU 19 16547713 16547713 single base substitution G A exon_variant MELA-AU 19 16547713 16547713 single base substitution G A intron_variant MELA-AU 19 16547713 16547713 single base substitution G A upstream_gene_variant MELA-AU 19 16547728 16547728 single base substitution A T downstream_gene_variant MELA-AU 19 16547728 16547728 single base substitution A T exon_variant MELA-AU 19 16547728 16547728 single base substitution A T intron_variant MELA-AU 19 16547728 16547728 single base substitution A T upstream_gene_variant MELA-AU 19 16548156 16548156 single base substitution G A downstream_gene_variant MELA-AU 19 16548156 16548156 single base substitution G A intron_variant MELA-AU 19 16548156 16548156 single base substitution G A upstream_gene_variant MELA-AU 19 16548767 16548767 single base substitution G A downstream_gene_variant MELA-AU 19 16548767 16548767 single base substitution G A intron_variant MELA-AU 19 16548767 16548767 single base substitution G A upstream_gene_variant MELA-AU 19 16548962 16548962 single base substitution G A downstream_gene_variant MELA-AU 19 16548962 16548962 single base substitution G A intron_variant MELA-AU 19 16548962 16548962 single base substitution G A upstream_gene_variant MELA-AU 19 16549364 16549364 single base substitution G A downstream_gene_variant MELA-AU 19 16549364 16549364 single base substitution G A intron_variant MELA-AU 19 16549364 16549364 single base substitution G A upstream_gene_variant MELA-AU 19 16551230 16551230 single base substitution T G downstream_gene_variant MELA-AU 19 16551230 16551230 single base substitution T G intron_variant MELA-AU 19 16551859 16551859 single base substitution A C downstream_gene_variant MELA-AU 19 16551859 16551859 single base substitution A C intron_variant MELA-AU 19 16552057 16552057 single base substitution G A downstream_gene_variant MELA-AU 19 16552057 16552057 single base substitution G A intron_variant MELA-AU 19 16552793 16552793 single base substitution C T splice_acceptor_variant MELA-AU 19 16552894 16552895 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 16553081 16553081 single base substitution G A intron_variant MELA-AU 19 16553101 16553101 single base substitution C A intron_variant MELA-AU 19 16554415 16554415 single base substitution G A intron_variant MELA-AU 19 16554559 16554559 single base substitution G A intron_variant MELA-AU 19 16554783 16554783 single base substitution G A intron_variant MELA-AU 19 16554974 16554974 single base substitution G A intron_variant MELA-AU 19 16555000 16555000 single base substitution G A intron_variant MELA-AU 19 16555009 16555009 single base substitution G A intron_variant MELA-AU 19 16555065 16555065 single base substitution C T intron_variant MELA-AU 19 16555217 16555217 single base substitution G A intron_variant MELA-AU 19 16556276 16556276 single base substitution G A intron_variant MELA-AU 19 16556737 16556737 single base substitution T A intron_variant MELA-AU 19 16559235 16559235 single base substitution G A intron_variant MELA-AU 19 16559244 16559244 single base substitution G A intron_variant MELA-AU 19 16560369 16560369 single base substitution G A intron_variant MELA-AU 19 16560559 16560559 single base substitution G A intron_variant MELA-AU 19 16561193 16561194 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 16563092 16563092 single base substitution A G intron_variant MELA-AU 19 16564020 16564020 single base substitution C T intron_variant MELA-AU 19 16564185 16564185 single base substitution G A intron_variant MELA-AU 19 16564552 16564552 single base substitution G A intron_variant MELA-AU 19 16565028 16565028 single base substitution C T intron_variant MELA-AU 19 16565041 16565041 single base substitution T C intron_variant MELA-AU 19 16565347 16565347 single base substitution G A intron_variant MELA-AU 19 16565563 16565563 single base substitution A G intron_variant MELA-AU 19 16566124 16566124 deletion of <=200bp G - intron_variant MELA-AU 19 16566191 16566192 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 16566219 16566219 single base substitution G A intron_variant MELA-AU 19 16566452 16566452 single base substitution G A intron_variant MELA-AU 19 16566566 16566567 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 19 16566580 16566580 single base substitution A C intron_variant MELA-AU 19 16567017 16567017 single base substitution A C intron_variant MELA-AU 19 16567243 16567243 single base substitution G A intron_variant MELA-AU 19 16567244 16567244 single base substitution G A intron_variant MELA-AU 19 16567361 16567361 single base substitution G A intron_variant MELA-AU 19 16567601 16567601 single base substitution G A intron_variant MELA-AU 19 16567948 16567948 single base substitution G A intron_variant MELA-AU 19 16568209 16568209 single base substitution G A intron_variant MELA-AU 19 16569707 16569707 single base substitution A G intron_variant MELA-AU 19 16570618 16570618 single base substitution T C intron_variant MELA-AU 19 16570834 16570834 single base substitution C T intron_variant MELA-AU 19 16571781 16571781 single base substitution G A intron_variant MELA-AU 19 16572105 16572105 single base substitution A G intron_variant MELA-AU 19 16572409 16572409 single base substitution G A intron_variant MELA-AU 19 16572641 16572641 single base substitution C T intron_variant MELA-AU 19 16573191 16573191 single base substitution G A intron_variant MELA-AU 19 16573261 16573261 single base substitution C T intron_variant MELA-AU 19 16573957 16573957 single base substitution C T intron_variant MELA-AU 19 16575106 16575106 single base substitution G A intron_variant MELA-AU 19 16575536 16575536 single base substitution A T intron_variant MELA-AU 19 16575896 16575896 single base substitution A C intron_variant MELA-AU 19 16576063 16576063 single base substitution G A intron_variant MELA-AU 19 16576066 16576066 single base substitution G A intron_variant MELA-AU 19 16576182 16576182 single base substitution G A intron_variant MELA-AU 19 16576270 16576270 single base substitution G A intron_variant MELA-AU 19 16576470 16576470 single base substitution G C intron_variant MELA-AU 19 16577180 16577180 single base substitution T C intron_variant MELA-AU 19 16578093 16578093 single base substitution G A intron_variant MELA-AU 19 16578795 16578795 single base substitution G A intron_variant MELA-AU 19 16578822 16578822 single base substitution G A intron_variant MELA-AU 19 16578961 16578961 single base substitution G A intron_variant MELA-AU 19 16579201 16579214 deletion of <=200bp GGCTGGGGTGCAGT - intron_variant MELA-AU 19 16579482 16579482 single base substitution G A intron_variant MELA-AU 19 16579966 16579966 single base substitution A G intron_variant MELA-AU 19 16580247 16580247 single base substitution G A intron_variant MELA-AU 19 16580363 16580363 single base substitution G A intron_variant MELA-AU 19 16580479 16580479 single base substitution G A intron_variant MELA-AU 19 16581753 16581754 multiple base substitution (>=2bp and <=200bp) CA AC intron_variant MELA-AU 19 16582334 16582335 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 16582717 16582718 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 16582789 16582789 single base substitution G A 5_prime_UTR_variant MELA-AU 19 16582789 16582789 single base substitution G A upstream_gene_variant MELA-AU 19 16582836 16582836 single base substitution G A 5_prime_UTR_variant MELA-AU 19 16582836 16582836 single base substitution G A upstream_gene_variant MELA-AU 19 16582880 16582880 single base substitution G A 5_prime_UTR_variant MELA-AU 19 16582880 16582880 single base substitution G A upstream_gene_variant MELA-AU 19 16583438 16583438 single base substitution G A upstream_gene_variant MELA-AU 19 16583934 16583934 single base substitution T C upstream_gene_variant MELA-AU 19 16584256 16584256 single base substitution T C upstream_gene_variant MELA-AU 19 16584299 16584305 deletion of <=200bp ACAGAGC - upstream_gene_variant MELA-AU 19 16584588 16584588 single base substitution G A upstream_gene_variant MELA-AU 19 16584596 16584596 single base substitution C A upstream_gene_variant MELA-AU 19 16585132 16585132 single base substitution G A upstream_gene_variant MELA-AU 19 16585201 16585201 single base substitution C T upstream_gene_variant MELA-AU 19 16585556 16585556 single base substitution G A upstream_gene_variant MELA-AU 19 16585578 16585578 single base substitution G A upstream_gene_variant MELA-AU 19 16586151 16586151 single base substitution G A upstream_gene_variant MELA-AU 19 16586312 16586313 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 16586645 16586645 single base substitution G A upstream_gene_variant MELA-AU 19 16586810 16586810 single base substitution C A upstream_gene_variant MELA-AU 19 16587124 16587124 single base substitution C T upstream_gene_variant MELA-AU 19 16587546 16587546 single base substitution G A upstream_gene_variant ORCA-IN 19 16466932 16466932 single base substitution C T intron_variant ORCA-IN 19 16468243 16468243 single base substitution C G downstream_gene_variant ORCA-IN 19 16468243 16468243 single base substitution C G intron_variant ORCA-IN 19 16477654 16477654 single base substitution C T intron_variant ORCA-IN 19 16477654 16477654 single base substitution C T upstream_gene_variant ORCA-IN 19 16478454 16478454 single base substitution C G intron_variant ORCA-IN 19 16481567 16481567 single base substitution G A intron_variant ORCA-IN 19 16482339 16482339 single base substitution G C intron_variant ORCA-IN 19 16502171 16502171 single base substitution C A intron_variant ORCA-IN 19 16506275 16506275 single base substitution C T 3_prime_UTR_variant ORCA-IN 19 16506275 16506275 single base substitution C T exon_variant ORCA-IN 19 16506275 16506275 single base substitution C T missense_variant D599N 1795G>A ORCA-IN 19 16506275 16506275 single base substitution C T missense_variant D601N 1801G>A ORCA-IN 19 16506275 16506275 single base substitution C T missense_variant D61N 181G>A ORCA-IN 19 16514025 16514025 single base substitution G A intron_variant ORCA-IN 19 16521123 16521123 single base substitution A T intron_variant ORCA-IN 19 16527184 16527184 single base substitution C A downstream_gene_variant ORCA-IN 19 16527184 16527184 single base substitution C A intron_variant ORCA-IN 19 16535729 16535729 single base substitution C T downstream_gene_variant ORCA-IN 19 16535729 16535729 single base substitution C T intron_variant ORCA-IN 19 16535729 16535729 single base substitution C T upstream_gene_variant ORCA-IN 19 16551197 16551197 single base substitution T C downstream_gene_variant ORCA-IN 19 16551197 16551197 single base substitution T C intron_variant ORCA-IN 19 16564291 16564291 single base substitution G T intron_variant OV-AU 19 16462965 16462965 single base substitution C T downstream_gene_variant OV-AU 19 16473165 16473165 single base substitution A T intron_variant OV-AU 19 16473165 16473165 single base substitution A T upstream_gene_variant OV-AU 19 16474969 16474969 single base substitution G T intron_variant OV-AU 19 16474969 16474969 single base substitution G T upstream_gene_variant OV-AU 19 16476870 16476870 single base substitution C T intron_variant OV-AU 19 16476870 16476870 single base substitution C T upstream_gene_variant OV-AU 19 16476916 16476916 single base substitution A G intron_variant OV-AU 19 16476916 16476916 single base substitution A G upstream_gene_variant OV-AU 19 16485553 16485553 single base substitution C G intron_variant OV-AU 19 16487067 16487067 single base substitution C T intron_variant OV-AU 19 16490347 16490347 single base substitution C G downstream_gene_variant OV-AU 19 16490347 16490347 single base substitution C G intron_variant OV-AU 19 16491705 16491705 single base substitution G A downstream_gene_variant OV-AU 19 16491705 16491705 single base substitution G A intron_variant OV-AU 19 16504931 16504931 single base substitution G C intron_variant OV-AU 19 16506678 16506678 single base substitution C A downstream_gene_variant OV-AU 19 16506678 16506678 single base substitution C A intron_variant OV-AU 19 16508041 16508041 single base substitution C G downstream_gene_variant OV-AU 19 16508041 16508041 single base substitution C G intron_variant OV-AU 19 16510777 16510777 single base substitution A G downstream_gene_variant OV-AU 19 16510777 16510777 single base substitution A G intron_variant OV-AU 19 16512389 16512389 single base substitution C A 3_prime_UTR_variant OV-AU 19 16512389 16512389 single base substitution C A intron_variant OV-AU 19 16514006 16514006 single base substitution G A intron_variant OV-AU 19 16518434 16518434 single base substitution G T intron_variant OV-AU 19 16518434 16518434 single base substitution G T upstream_gene_variant OV-AU 19 16520663 16520663 single base substitution C T intron_variant OV-AU 19 16523884 16523884 single base substitution T C downstream_gene_variant OV-AU 19 16523884 16523884 single base substitution T C intron_variant OV-AU 19 16529229 16529229 single base substitution T C intron_variant OV-AU 19 16530650 16530650 single base substitution C T intron_variant OV-AU 19 16531142 16531142 single base substitution C A downstream_gene_variant OV-AU 19 16531142 16531142 single base substitution C A intron_variant OV-AU 19 16541098 16541098 single base substitution G A intron_variant OV-AU 19 16541277 16541277 single base substitution A C intron_variant OV-AU 19 16541910 16541910 single base substitution C T intron_variant OV-AU 19 16542983 16542983 single base substitution G C downstream_gene_variant OV-AU 19 16542983 16542983 single base substitution G C intron_variant OV-AU 19 16559544 16559544 single base substitution G A intron_variant OV-AU 19 16560281 16560281 single base substitution G C intron_variant OV-AU 19 16560633 16560633 single base substitution A G intron_variant OV-AU 19 16567266 16567266 single base substitution G C intron_variant OV-AU 19 16572069 16572069 single base substitution T G intron_variant OV-AU 19 16574064 16574064 single base substitution A G intron_variant OV-AU 19 16582496 16582496 single base substitution G A intron_variant OV-AU 19 16585232 16585232 single base substitution C T upstream_gene_variant OV-US 19 16472718 16472718 single base substitution C G 3_prime_UTR_variant OV-US 19 16472718 16472718 single base substitution C G missense_variant D820H 2458G>C OV-US 19 16472718 16472718 single base substitution C G synonymous_variant L15L 45G>C OV-US 19 16495995 16495995 single base substitution C G 3_prime_UTR_variant OV-US 19 16495995 16495995 single base substitution C G exon_variant OV-US 19 16495995 16495995 single base substitution C G missense_variant G193A 578G>C OV-US 19 16495995 16495995 single base substitution C G missense_variant G731A 2192G>C OV-US 19 16495995 16495995 single base substitution C G missense_variant G733A 2198G>C PACA-AU 19 16467030 16467030 single base substitution C T intron_variant PACA-AU 19 16472156 16472156 single base substitution C T downstream_gene_variant PACA-AU 19 16472156 16472156 single base substitution C T intron_variant PACA-AU 19 16474155 16474155 single base substitution T A intron_variant PACA-AU 19 16474155 16474155 single base substitution T A upstream_gene_variant PACA-AU 19 16475624 16475624 single base substitution A C intron_variant PACA-AU 19 16475624 16475624 single base substitution A C upstream_gene_variant PACA-AU 19 16480379 16480379 single base substitution C A intron_variant PACA-AU 19 16482214 16482214 single base substitution A C intron_variant PACA-AU 19 16496939 16496939 single base substitution G T intron_variant PACA-AU 19 16497026 16497026 single base substitution G C 3_prime_UTR_variant PACA-AU 19 16497026 16497026 single base substitution G C exon_variant PACA-AU 19 16497026 16497026 single base substitution G C missense_variant S169C 506C>G PACA-AU 19 16497026 16497026 single base substitution G C missense_variant S707C 2120C>G PACA-AU 19 16497026 16497026 single base substitution G C missense_variant S709C 2126C>G PACA-AU 19 16500991 16500991 deletion of <=200bp A - intron_variant PACA-AU 19 16513994 16513994 single base substitution A G intron_variant PACA-AU 19 16518242 16518242 single base substitution G A intron_variant PACA-AU 19 16518242 16518242 single base substitution G A upstream_gene_variant PACA-AU 19 16520200 16520202 deletion of <=200bp CTC - intron_variant PACA-AU 19 16525172 16525172 deletion of <=200bp C - downstream_gene_variant PACA-AU 19 16525172 16525172 deletion of <=200bp C - intron_variant PACA-AU 19 16526290 16526290 single base substitution C T downstream_gene_variant PACA-AU 19 16526290 16526290 single base substitution C T intron_variant PACA-AU 19 16532537 16532537 single base substitution C T downstream_gene_variant PACA-AU 19 16532537 16532537 single base substitution C T intron_variant PACA-AU 19 16532537 16532537 single base substitution C T upstream_gene_variant PACA-AU 19 16539398 16539398 single base substitution A G downstream_gene_variant PACA-AU 19 16539398 16539398 single base substitution A G intron_variant PACA-AU 19 16543254 16543254 single base substitution C A downstream_gene_variant PACA-AU 19 16543254 16543254 single base substitution C A intron_variant PACA-AU 19 16543399 16543399 insertion of <=200bp - AAATAC downstream_gene_variant PACA-AU 19 16543399 16543399 insertion of <=200bp - AAATAC intron_variant PACA-AU 19 16544722 16544722 single base substitution C A downstream_gene_variant PACA-AU 19 16544722 16544722 single base substitution C A intron_variant PACA-AU 19 16561724 16561724 single base substitution A G intron_variant PACA-AU 19 16561793 16561793 single base substitution G A intron_variant PACA-AU 19 16562042 16562042 single base substitution G A intron_variant PACA-AU 19 16562819 16562819 single base substitution G A intron_variant PACA-AU 19 16568610 16568610 single base substitution T C intron_variant PACA-AU 19 16573702 16573702 single base substitution G A intron_variant PACA-AU 19 16576364 16576364 single base substitution C T intron_variant PACA-AU 19 16576769 16576769 single base substitution C T intron_variant PACA-AU 19 16578098 16578098 single base substitution T C intron_variant PACA-AU 19 16578881 16578881 single base substitution C A intron_variant PACA-AU 19 16581936 16581936 single base substitution C T intron_variant PACA-AU 19 16583813 16583813 single base substitution C T upstream_gene_variant PACA-AU 19 16584265 16584265 single base substitution G A upstream_gene_variant PACA-AU 19 16586518 16586518 single base substitution T C upstream_gene_variant PACA-AU 19 16587385 16587385 single base substitution T G upstream_gene_variant PACA-CA 19 16463059 16463059 single base substitution G C downstream_gene_variant PACA-CA 19 16465701 16465701 single base substitution T A downstream_gene_variant PACA-CA 19 16465941 16465941 insertion of <=200bp - T downstream_gene_variant PACA-CA 19 16466160 16466160 single base substitution G A 3_prime_UTR_variant PACA-CA 19 16482608 16482608 single base substitution C A intron_variant PACA-CA 19 16482969 16482969 single base substitution T C intron_variant PACA-CA 19 16483937 16483937 single base substitution C T intron_variant PACA-CA 19 16488119 16488119 single base substitution C T intron_variant PACA-CA 19 16488206 16488206 single base substitution C T intron_variant PACA-CA 19 16496790 16496790 single base substitution G A intron_variant PACA-CA 19 16498167 16498167 single base substitution C T intron_variant PACA-CA 19 16505675 16505675 single base substitution A C intron_variant PACA-CA 19 16506917 16506917 single base substitution T A downstream_gene_variant PACA-CA 19 16506917 16506917 single base substitution T A intron_variant PACA-CA 19 16507220 16507220 single base substitution G A downstream_gene_variant PACA-CA 19 16507220 16507220 single base substitution G A intron_variant PACA-CA 19 16508508 16508508 single base substitution A T downstream_gene_variant PACA-CA 19 16508508 16508508 single base substitution A T intron_variant PACA-CA 19 16513015 16513015 single base substitution C A 3_prime_UTR_variant PACA-CA 19 16513015 16513015 single base substitution C A intron_variant PACA-CA 19 16513416 16513416 single base substitution G A intron_variant PACA-CA 19 16516075 16516075 single base substitution G A intron_variant PACA-CA 19 16516075 16516075 single base substitution G A upstream_gene_variant PACA-CA 19 16520656 16520656 single base substitution G C intron_variant PACA-CA 19 16523672 16523672 single base substitution G A downstream_gene_variant PACA-CA 19 16523672 16523672 single base substitution G A intron_variant PACA-CA 19 16524378 16524378 single base substitution T C downstream_gene_variant PACA-CA 19 16524378 16524378 single base substitution T C intron_variant PACA-CA 19 16529444 16529444 single base substitution G A intron_variant PACA-CA 19 16533791 16533791 single base substitution G A downstream_gene_variant PACA-CA 19 16533791 16533791 single base substitution G A intron_variant PACA-CA 19 16533791 16533791 single base substitution G A upstream_gene_variant PACA-CA 19 16534664 16534664 single base substitution G A downstream_gene_variant PACA-CA 19 16534664 16534664 single base substitution G A intron_variant PACA-CA 19 16534664 16534664 single base substitution G A upstream_gene_variant PACA-CA 19 16535581 16535581 single base substitution C A downstream_gene_variant PACA-CA 19 16535581 16535581 single base substitution C A intron_variant PACA-CA 19 16535581 16535581 single base substitution C A upstream_gene_variant PACA-CA 19 16538754 16538754 single base substitution C T downstream_gene_variant PACA-CA 19 16538754 16538754 single base substitution C T intron_variant PACA-CA 19 16541907 16541907 single base substitution G A intron_variant PACA-CA 19 16549901 16549901 single base substitution A T downstream_gene_variant PACA-CA 19 16549901 16549901 single base substitution A T intron_variant PACA-CA 19 16549901 16549901 single base substitution A T upstream_gene_variant PACA-CA 19 16550337 16550337 deletion of <=200bp A - downstream_gene_variant PACA-CA 19 16550337 16550337 deletion of <=200bp A - intron_variant PACA-CA 19 16550337 16550337 deletion of <=200bp A - upstream_gene_variant PACA-CA 19 16551771 16551771 single base substitution G A downstream_gene_variant PACA-CA 19 16551771 16551771 single base substitution G A intron_variant PACA-CA 19 16552637 16552637 single base substitution C T exon_variant PACA-CA 19 16552637 16552637 single base substitution C T intron_variant PACA-CA 19 16553013 16553013 single base substitution C T exon_variant PACA-CA 19 16553013 16553013 single base substitution C T synonymous_variant S16S 48G>A PACA-CA 19 16553013 16553013 single base substitution C T synonymous_variant S17S 51G>A PACA-CA 19 16554509 16554509 single base substitution G A intron_variant PACA-CA 19 16561174 16561174 single base substitution C T intron_variant PACA-CA 19 16567282 16567282 single base substitution A G intron_variant PACA-CA 19 16569030 16569030 single base substitution A G intron_variant PACA-CA 19 16573671 16573671 single base substitution G A intron_variant PACA-CA 19 16575170 16575170 single base substitution A G intron_variant PAEN-AU 19 16465001 16465001 single base substitution A C downstream_gene_variant PAEN-AU 19 16475587 16475587 single base substitution G C intron_variant PAEN-AU 19 16475587 16475587 single base substitution G C upstream_gene_variant PAEN-AU 19 16489026 16489026 single base substitution T C downstream_gene_variant PAEN-AU 19 16489026 16489026 single base substitution T C intron_variant PAEN-AU 19 16496296 16496296 single base substitution C T intron_variant PAEN-AU 19 16504481 16504481 single base substitution T A intron_variant PAEN-AU 19 16504640 16504640 single base substitution C T intron_variant PAEN-AU 19 16560059 16560062 deletion of <=200bp AAAC - intron_variant PAEN-AU 19 16568402 16568402 single base substitution T G intron_variant PAEN-IT 19 16466274 16466274 single base substitution G T 3_prime_UTR_variant PAEN-IT 19 16470492 16470492 single base substitution T C downstream_gene_variant PAEN-IT 19 16470492 16470492 single base substitution T C intron_variant PAEN-IT 19 16482599 16482599 single base substitution G T intron_variant PAEN-IT 19 16484278 16484278 single base substitution T C intron_variant PAEN-IT 19 16490801 16490801 single base substitution C A downstream_gene_variant PAEN-IT 19 16490801 16490801 single base substitution C A intron_variant PAEN-IT 19 16534787 16534787 single base substitution C G downstream_gene_variant PAEN-IT 19 16534787 16534787 single base substitution C G intron_variant PAEN-IT 19 16534787 16534787 single base substitution C G upstream_gene_variant PBCA-DE 19 16462631 16462631 single base substitution C A downstream_gene_variant PBCA-DE 19 16463454 16463454 single base substitution T A downstream_gene_variant PBCA-DE 19 16469021 16469021 single base substitution G A downstream_gene_variant PBCA-DE 19 16469021 16469021 single base substitution G A intron_variant PBCA-DE 19 16469204 16469204 single base substitution C T downstream_gene_variant PBCA-DE 19 16469204 16469204 single base substitution C T intron_variant PBCA-DE 19 16472931 16472931 single base substitution C T intron_variant PBCA-DE 19 16472931 16472931 single base substitution C T upstream_gene_variant PBCA-DE 19 16494586 16494586 single base substitution C T 3_prime_UTR_variant PBCA-DE 19 16494586 16494586 single base substitution C T intron_variant PBCA-DE 19 16508939 16508939 single base substitution G T downstream_gene_variant PBCA-DE 19 16508939 16508939 single base substitution G T intron_variant PBCA-DE 19 16524922 16524922 single base substitution A G downstream_gene_variant PBCA-DE 19 16524922 16524922 single base substitution A G intron_variant PBCA-DE 19 16530965 16530965 single base substitution G T downstream_gene_variant PBCA-DE 19 16530965 16530965 single base substitution G T intron_variant PBCA-DE 19 16531303 16531303 single base substitution G T downstream_gene_variant PBCA-DE 19 16531303 16531303 single base substitution G T intron_variant PBCA-DE 19 16535478 16535478 deletion of <=200bp T - downstream_gene_variant PBCA-DE 19 16535478 16535478 deletion of <=200bp T - intron_variant PBCA-DE 19 16535478 16535478 deletion of <=200bp T - upstream_gene_variant PBCA-DE 19 16538705 16538705 insertion of <=200bp - A downstream_gene_variant PBCA-DE 19 16538705 16538705 insertion of <=200bp - A intron_variant PBCA-DE 19 16562950 16562950 insertion of <=200bp - A intron_variant PBCA-DE 19 16586510 16586510 insertion of <=200bp - T upstream_gene_variant PBCA-DE 19 16586659 16586659 single base substitution C T upstream_gene_variant PRAD-CA 19 16467857 16467857 single base substitution A G downstream_gene_variant PRAD-CA 19 16467857 16467857 single base substitution A G intron_variant PRAD-CA 19 16478799 16478799 single base substitution T A intron_variant PRAD-CA 19 16511171 16511171 single base substitution A C downstream_gene_variant PRAD-CA 19 16511171 16511171 single base substitution A C intron_variant PRAD-CA 19 16514110 16514110 single base substitution G C intron_variant PRAD-CA 19 16534006 16534006 single base substitution C G downstream_gene_variant PRAD-CA 19 16534006 16534006 single base substitution C G intron_variant PRAD-CA 19 16534006 16534006 single base substitution C G upstream_gene_variant PRAD-CA 19 16567872 16567872 single base substitution A C intron_variant PRAD-UK 19 16492946 16492946 single base substitution G A downstream_gene_variant PRAD-UK 19 16492946 16492946 single base substitution G A intron_variant PRAD-UK 19 16499485 16499486 deletion of <=200bp GA - intron_variant PRAD-UK 19 16501045 16501045 single base substitution A T intron_variant PRAD-UK 19 16503111 16503111 single base substitution T C splice_region_variant PRAD-UK 19 16512342 16512342 single base substitution G C 3_prime_UTR_variant PRAD-UK 19 16512342 16512342 single base substitution G C intron_variant PRAD-UK 19 16516559 16516559 single base substitution C T intron_variant PRAD-UK 19 16516559 16516559 single base substitution C T upstream_gene_variant PRAD-UK 19 16523526 16523526 single base substitution G C downstream_gene_variant PRAD-UK 19 16523526 16523526 single base substitution G C intron_variant PRAD-UK 19 16542035 16542035 single base substitution G A intron_variant PRAD-UK 19 16542245 16542245 single base substitution G A intron_variant PRAD-UK 19 16546875 16546875 single base substitution T C downstream_gene_variant PRAD-UK 19 16546875 16546875 single base substitution T C intron_variant PRAD-UK 19 16546875 16546875 single base substitution T C upstream_gene_variant PRAD-UK 19 16554689 16554689 single base substitution C T intron_variant PRAD-UK 19 16570344 16570344 single base substitution C T intron_variant PRAD-UK 19 16570631 16570631 single base substitution G A intron_variant PRAD-UK 19 16573188 16573188 single base substitution G A intron_variant PRAD-UK 19 16573337 16573337 single base substitution C T intron_variant PRAD-UK 19 16584999 16584999 single base substitution C A upstream_gene_variant RECA-EU 19 16462450 16462450 single base substitution T A downstream_gene_variant RECA-EU 19 16462513 16462513 single base substitution A T downstream_gene_variant RECA-EU 19 16466632 16466632 single base substitution C T 3_prime_UTR_variant RECA-EU 19 16466632 16466632 single base substitution C T missense_variant A33T 97G>A RECA-EU 19 16466632 16466632 single base substitution C T missense_variant A873T 2617G>A RECA-EU 19 16472643 16472643 single base substitution A T 3_prime_UTR_variant RECA-EU 19 16472643 16472643 single base substitution A T downstream_gene_variant RECA-EU 19 16472643 16472643 single base substitution A T intron_variant RECA-EU 19 16472643 16472643 single base substitution A T missense_variant S845T 2533T>A RECA-EU 19 16486983 16486983 single base substitution C G intron_variant RECA-EU 19 16500459 16500459 single base substitution A G intron_variant RECA-EU 19 16516272 16516272 single base substitution G T intron_variant RECA-EU 19 16516272 16516272 single base substitution G T upstream_gene_variant RECA-EU 19 16521705 16521705 single base substitution T A intron_variant RECA-EU 19 16528957 16528957 single base substitution C T intron_variant RECA-EU 19 16535152 16535152 single base substitution G A downstream_gene_variant RECA-EU 19 16535152 16535152 single base substitution G A intron_variant RECA-EU 19 16535152 16535152 single base substitution G A upstream_gene_variant RECA-EU 19 16553148 16553148 single base substitution C T intron_variant RECA-EU 19 16561733 16561733 single base substitution T C intron_variant RECA-EU 19 16563204 16563204 single base substitution C T intron_variant RECA-EU 19 16563674 16563674 single base substitution C A intron_variant RECA-EU 19 16566783 16566783 single base substitution G A intron_variant RECA-EU 19 16568619 16568619 single base substitution C A intron_variant RECA-EU 19 16570993 16570993 single base substitution A C intron_variant RECA-EU 19 16580600 16580600 single base substitution C A intron_variant RECA-EU 19 16586359 16586359 single base substitution G C upstream_gene_variant SKCA-BR 19 16466678 16466678 single base substitution G A intron_variant SKCA-BR 19 16466724 16466724 single base substitution G A intron_variant SKCA-BR 19 16467759 16467759 single base substitution A G downstream_gene_variant SKCA-BR 19 16467759 16467759 single base substitution A G intron_variant SKCA-BR 19 16469851 16469851 single base substitution G C downstream_gene_variant SKCA-BR 19 16469851 16469851 single base substitution G C intron_variant SKCA-BR 19 16471393 16471393 single base substitution A T downstream_gene_variant SKCA-BR 19 16471393 16471393 single base substitution A T intron_variant SKCA-BR 19 16471514 16471514 single base substitution G A downstream_gene_variant SKCA-BR 19 16471514 16471514 single base substitution G A intron_variant SKCA-BR 19 16472069 16472069 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 19 16472069 16472069 insertion of <=200bp - TA intron_variant SKCA-BR 19 16477995 16477995 single base substitution G A intron_variant SKCA-BR 19 16479022 16479022 single base substitution T A intron_variant SKCA-BR 19 16479574 16479574 single base substitution A C intron_variant SKCA-BR 19 16480487 16480487 insertion of <=200bp - AGT intron_variant SKCA-BR 19 16480599 16480599 single base substitution T G intron_variant SKCA-BR 19 16481120 16481120 single base substitution A C intron_variant SKCA-BR 19 16482157 16482157 single base substitution G A intron_variant SKCA-BR 19 16482158 16482158 single base substitution G A intron_variant SKCA-BR 19 16484385 16484385 single base substitution G A intron_variant SKCA-BR 19 16485018 16485018 single base substitution G A intron_variant SKCA-BR 19 16487671 16487671 single base substitution G A intron_variant SKCA-BR 19 16489603 16489603 single base substitution G A downstream_gene_variant SKCA-BR 19 16489603 16489603 single base substitution G A intron_variant SKCA-BR 19 16490040 16490040 single base substitution T G downstream_gene_variant SKCA-BR 19 16490040 16490040 single base substitution T G intron_variant SKCA-BR 19 16493948 16493948 single base substitution G A 3_prime_UTR_variant SKCA-BR 19 16493948 16493948 single base substitution G A intron_variant SKCA-BR 19 16499218 16499218 single base substitution G A intron_variant SKCA-BR 19 16501887 16501887 single base substitution C A intron_variant SKCA-BR 19 16504504 16504504 single base substitution A T intron_variant SKCA-BR 19 16504976 16504976 single base substitution C T intron_variant SKCA-BR 19 16505391 16505391 single base substitution G A intron_variant SKCA-BR 19 16505575 16505575 single base substitution A G intron_variant SKCA-BR 19 16509028 16509028 single base substitution G A downstream_gene_variant SKCA-BR 19 16509028 16509028 single base substitution G A intron_variant SKCA-BR 19 16511817 16511817 single base substitution G A 3_prime_UTR_variant SKCA-BR 19 16511817 16511817 single base substitution G A intron_variant SKCA-BR 19 16517338 16517338 single base substitution C T intron_variant SKCA-BR 19 16517338 16517338 single base substitution C T upstream_gene_variant SKCA-BR 19 16518712 16518712 single base substitution G A intron_variant SKCA-BR 19 16518712 16518712 single base substitution G A upstream_gene_variant SKCA-BR 19 16518998 16518998 single base substitution G A intron_variant SKCA-BR 19 16518998 16518998 single base substitution G A upstream_gene_variant SKCA-BR 19 16520675 16520675 single base substitution G A intron_variant SKCA-BR 19 16523537 16523539 deletion of <=200bp GGT - downstream_gene_variant SKCA-BR 19 16523537 16523539 deletion of <=200bp GGT - intron_variant SKCA-BR 19 16524424 16524424 insertion of <=200bp - GA downstream_gene_variant SKCA-BR 19 16524424 16524424 insertion of <=200bp - GA intron_variant SKCA-BR 19 16525905 16525905 single base substitution G A downstream_gene_variant SKCA-BR 19 16525905 16525905 single base substitution G A intron_variant SKCA-BR 19 16526202 16526202 single base substitution G A downstream_gene_variant SKCA-BR 19 16526202 16526202 single base substitution G A intron_variant SKCA-BR 19 16526586 16526586 single base substitution G A downstream_gene_variant SKCA-BR 19 16526586 16526586 single base substitution G A intron_variant SKCA-BR 19 16528082 16528082 single base substitution G A downstream_gene_variant SKCA-BR 19 16528082 16528082 single base substitution G A intron_variant SKCA-BR 19 16528272 16528273 deletion of <=200bp AC - exon_variant SKCA-BR 19 16528272 16528273 deletion of <=200bp AC - intron_variant SKCA-BR 19 16529009 16529009 single base substitution G A intron_variant SKCA-BR 19 16536884 16536884 single base substitution G A downstream_gene_variant SKCA-BR 19 16536884 16536884 single base substitution G A intron_variant SKCA-BR 19 16536884 16536884 single base substitution G A upstream_gene_variant SKCA-BR 19 16537419 16537419 single base substitution C A downstream_gene_variant SKCA-BR 19 16537419 16537419 single base substitution C A intron_variant SKCA-BR 19 16538065 16538065 single base substitution G A downstream_gene_variant SKCA-BR 19 16538065 16538065 single base substitution G A intron_variant SKCA-BR 19 16539230 16539230 single base substitution G A downstream_gene_variant SKCA-BR 19 16539230 16539230 single base substitution G A intron_variant SKCA-BR 19 16546127 16546127 single base substitution A G downstream_gene_variant SKCA-BR 19 16546127 16546127 single base substitution A G intron_variant SKCA-BR 19 16546127 16546127 single base substitution A G upstream_gene_variant SKCA-BR 19 16549194 16549194 single base substitution G A downstream_gene_variant SKCA-BR 19 16549194 16549194 single base substitution G A intron_variant SKCA-BR 19 16549194 16549194 single base substitution G A upstream_gene_variant SKCA-BR 19 16550877 16550878 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 19 16550877 16550878 deletion of <=200bp CA - intron_variant SKCA-BR 19 16550877 16550878 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 19 16552652 16552652 single base substitution G A exon_variant SKCA-BR 19 16552652 16552652 single base substitution G A intron_variant SKCA-BR 19 16552653 16552653 single base substitution G A exon_variant SKCA-BR 19 16552653 16552653 single base substitution G A intron_variant SKCA-BR 19 16555685 16555685 single base substitution G A intron_variant SKCA-BR 19 16560058 16560058 insertion of <=200bp - AAAACAAAC intron_variant SKCA-BR 19 16560896 16560896 insertion of <=200bp - CA intron_variant SKCA-BR 19 16564532 16564532 insertion of <=200bp - GA intron_variant SKCA-BR 19 16574708 16574708 single base substitution C T intron_variant SKCA-BR 19 16575220 16575220 single base substitution A C intron_variant SKCA-BR 19 16575540 16575540 insertion of <=200bp - TACACTAACACTA intron_variant SKCA-BR 19 16578820 16578820 single base substitution G A intron_variant SKCA-BR 19 16580054 16580054 single base substitution G T intron_variant SKCA-BR 19 16581323 16581323 single base substitution A C intron_variant SKCA-BR 19 16584653 16584653 single base substitution C T upstream_gene_variant SKCA-BR 19 16586991 16586991 single base substitution C T upstream_gene_variant SKCA-BR 19 16587895 16587895 single base substitution A C upstream_gene_variant SKCM-US 19 16472729 16472729 single base substitution G A 3_prime_UTR_variant SKCM-US 19 16472729 16472729 single base substitution G A missense_variant H12Y 34C>T SKCM-US 19 16472729 16472729 single base substitution G A missense_variant P816L 2447C>T SKCM-US 19 16472743 16472743 single base substitution G A 3_prime_UTR_variant SKCM-US 19 16472743 16472743 single base substitution G A missense_variant P7L 20C>T SKCM-US 19 16472743 16472743 single base substitution G A synonymous_variant P811P 2433C>T SKCM-US 19 16488050 16488050 single base substitution G A 3_prime_UTR_variant SKCM-US 19 16488050 16488050 single base substitution G A intron_variant SKCM-US 19 16488050 16488050 single base substitution G A missense_variant P755S 2263C>T SKCM-US 19 16496008 16496008 single base substitution A G 3_prime_UTR_variant SKCM-US 19 16496008 16496008 single base substitution A G exon_variant SKCM-US 19 16496008 16496008 single base substitution A G synonymous_variant L189L 565T>C SKCM-US 19 16496008 16496008 single base substitution A G synonymous_variant L727L 2179T>C SKCM-US 19 16496008 16496008 single base substitution A G synonymous_variant L729L 2185T>C SKCM-US 19 16496019 16496019 single base substitution G A 3_prime_UTR_variant SKCM-US 19 16496019 16496019 single base substitution G A exon_variant SKCM-US 19 16496019 16496019 single base substitution G A missense_variant P185L 554C>T SKCM-US 19 16496019 16496019 single base substitution G A missense_variant P723L 2168C>T SKCM-US 19 16496019 16496019 single base substitution G A missense_variant P725L 2174C>T SKCM-US 19 16503152 16503152 single base substitution G A 3_prime_UTR_variant SKCM-US 19 16503152 16503152 single base substitution G A exon_variant SKCM-US 19 16503152 16503152 single base substitution G A missense_variant S151L 452C>T SKCM-US 19 16503152 16503152 single base substitution G A missense_variant S689L 2066C>T SKCM-US 19 16503152 16503152 single base substitution G A missense_variant S691L 2072C>T SKCM-US 19 16513163 16513163 single base substitution G A 3_prime_UTR_variant SKCM-US 19 16513163 16513163 single base substitution G A exon_variant SKCM-US 19 16513163 16513163 single base substitution G A missense_variant S433F 1298C>T SKCM-US 19 16513163 16513163 single base substitution G A missense_variant S49F 146C>T SKCM-US 19 16513163 16513163 single base substitution G A missense_variant S587F 1760C>T SKCM-US 19 16514715 16514715 single base substitution T C 3_prime_UTR_variant SKCM-US 19 16514715 16514715 single base substitution T C exon_variant SKCM-US 19 16514715 16514715 single base substitution T C synonymous_variant Q331Q 993A>G SKCM-US 19 16514715 16514715 single base substitution T C synonymous_variant Q485Q 1455A>G SKCM-US 19 16514715 16514715 single base substitution T C upstream_gene_variant SKCM-US 19 16528446 16528446 single base substitution G A splice_region_variant SKCM-US 19 16528870 16528870 single base substitution T G 3_prime_UTR_variant SKCM-US 19 16528870 16528870 single base substitution T G exon_variant SKCM-US 19 16528870 16528870 single base substitution T G missense_variant Q178H 534A>C SKCM-US 19 16528870 16528870 single base substitution T G missense_variant Q332H 996A>C SKCM-US 19 16536010 16536010 single base substitution G A 3_prime_UTR_variant SKCM-US 19 16536010 16536010 single base substitution G A downstream_gene_variant SKCM-US 19 16536010 16536010 single base substitution G A exon_variant SKCM-US 19 16536010 16536010 single base substitution G A synonymous_variant L226L 676C>T SKCM-US 19 16536010 16536010 single base substitution G A synonymous_variant L72L 214C>T SKCM-US 19 16536010 16536010 single base substitution G A upstream_gene_variant SKCM-US 19 16553011 16553011 deletion of <=200bp A - exon_variant SKCM-US 19 16553011 16553011 deletion of <=200bp A - frameshift_variant L17 SKCM-US 19 16553011 16553011 deletion of <=200bp A - frameshift_variant L18 STAD-US 19 16504805 16504805 single base substitution C T 3_prime_UTR_variant STAD-US 19 16504805 16504805 single base substitution C T exon_variant STAD-US 19 16504805 16504805 single base substitution C T synonymous_variant P103P 309G>A STAD-US 19 16504805 16504805 single base substitution C T synonymous_variant P641P 1923G>A STAD-US 19 16504805 16504805 single base substitution C T synonymous_variant P643P 1929G>A STAD-US 19 16514555 16514555 single base substitution C T 3_prime_UTR_variant STAD-US 19 16514555 16514555 single base substitution C T exon_variant STAD-US 19 16514555 16514555 single base substitution C T missense_variant E1K 1G>A STAD-US 19 16514555 16514555 single base substitution C T missense_variant E385K 1153G>A STAD-US 19 16514555 16514555 single base substitution C T missense_variant E539K 1615G>A STAD-US 19 16515477 16515477 single base substitution G A 3_prime_UTR_variant STAD-US 19 16515477 16515477 single base substitution G A exon_variant STAD-US 19 16515477 16515477 single base substitution G A synonymous_variant D296D 888C>T STAD-US 19 16515477 16515477 single base substitution G A synonymous_variant D450D 1350C>T STAD-US 19 16515477 16515477 single base substitution G A upstream_gene_variant STAD-US 19 16528865 16528865 single base substitution G A 3_prime_UTR_variant STAD-US 19 16528865 16528865 single base substitution G A exon_variant STAD-US 19 16528865 16528865 single base substitution G A missense_variant A180V 539C>T STAD-US 19 16528865 16528865 single base substitution G A missense_variant A334V 1001C>T STAD-US 19 16535966 16535966 single base substitution C T 3_prime_UTR_variant STAD-US 19 16535966 16535966 single base substitution C T downstream_gene_variant STAD-US 19 16535966 16535966 single base substitution C T exon_variant STAD-US 19 16535966 16535966 single base substitution C T synonymous_variant P240P 720G>A STAD-US 19 16535966 16535966 single base substitution C T synonymous_variant P86P 258G>A STAD-US 19 16535966 16535966 single base substitution C T upstream_gene_variant STAD-US 19 16536014 16536014 single base substitution G A 3_prime_UTR_variant STAD-US 19 16536014 16536014 single base substitution G A downstream_gene_variant STAD-US 19 16536014 16536014 single base substitution G A exon_variant STAD-US 19 16536014 16536014 single base substitution G A synonymous_variant P224P 672C>T STAD-US 19 16536014 16536014 single base substitution G A synonymous_variant P70P 210C>T STAD-US 19 16536014 16536014 single base substitution G A upstream_gene_variant THCA-US 19 16496012 16496012 single base substitution T A 3_prime_UTR_variant THCA-US 19 16496012 16496012 single base substitution T A exon_variant THCA-US 19 16496012 16496012 single base substitution T A synonymous_variant G187G 561A>T THCA-US 19 16496012 16496012 single base substitution T A synonymous_variant G725G 2175A>T THCA-US 19 16496012 16496012 single base substitution T A synonymous_variant G727G 2181A>T THCA-US 19 16548625 16548625 single base substitution C T 3_prime_UTR_variant THCA-US 19 16548625 16548625 single base substitution C T downstream_gene_variant THCA-US 19 16548625 16548625 single base substitution C T exon_variant THCA-US 19 16548625 16548625 single base substitution C T intron_variant THCA-US 19 16548625 16548625 single base substitution C T missense_variant V89I 265G>A THCA-US 19 16548625 16548625 single base substitution C T upstream_gene_variant UCEC-US 19 16472599 16472599 single base substitution G A 3_prime_UTR_variant UCEC-US 19 16472599 16472599 single base substitution G A downstream_gene_variant UCEC-US 19 16472599 16472599 single base substitution G A intron_variant UCEC-US 19 16472599 16472599 single base substitution G A synonymous_variant D859D 2577C>T UCEC-US 19 16495985 16495985 single base substitution G T 3_prime_UTR_variant UCEC-US 19 16495985 16495985 single base substitution G T exon_variant UCEC-US 19 16495985 16495985 single base substitution G T synonymous_variant S196S 588C>A UCEC-US 19 16495985 16495985 single base substitution G T synonymous_variant S734S 2202C>A UCEC-US 19 16495985 16495985 single base substitution G T synonymous_variant S736S 2208C>A UCEC-US 19 16496002 16496002 single base substitution G A 3_prime_UTR_variant UCEC-US 19 16496002 16496002 single base substitution G A exon_variant UCEC-US 19 16496002 16496002 single base substitution G A missense_variant P191S 571C>T UCEC-US 19 16496002 16496002 single base substitution G A missense_variant P729S 2185C>T UCEC-US 19 16496002 16496002 single base substitution G A missense_variant P731S 2191C>T UCEC-US 19 16496008 16496008 single base substitution A T 3_prime_UTR_variant UCEC-US 19 16496008 16496008 single base substitution A T exon_variant UCEC-US 19 16496008 16496008 single base substitution A T missense_variant L189I 565T>A UCEC-US 19 16496008 16496008 single base substitution A T missense_variant L727I 2179T>A UCEC-US 19 16496008 16496008 single base substitution A T missense_variant L729I 2185T>A UCEC-US 19 16497040 16497040 single base substitution G A splice_region_variant UCEC-US 19 16503190 16503190 single base substitution G A 3_prime_UTR_variant UCEC-US 19 16503190 16503190 single base substitution G A exon_variant UCEC-US 19 16503190 16503190 single base substitution G A synonymous_variant D138D 414C>T UCEC-US 19 16503190 16503190 single base substitution G A synonymous_variant D676D 2028C>T UCEC-US 19 16503190 16503190 single base substitution G A synonymous_variant D678D 2034C>T UCEC-US 19 16504771 16504771 single base substitution T C 3_prime_UTR_variant UCEC-US 19 16504771 16504771 single base substitution T C exon_variant UCEC-US 19 16504771 16504771 single base substitution T C missense_variant T115A 343A>G UCEC-US 19 16504771 16504771 single base substitution T C missense_variant T653A 1957A>G UCEC-US 19 16504771 16504771 single base substitution T C missense_variant T655A 1963A>G UCEC-US 19 16506157 16506157 single base substitution T C missense_variant K100R 299A>G UCEC-US 19 16506157 16506157 single base substitution T C missense_variant K638R 1913A>G UCEC-US 19 16506157 16506157 single base substitution T C missense_variant K640R 1919A>G UCEC-US 19 16506157 16506157 single base substitution T C splice_region_variant UCEC-US 19 16524628 16524628 single base substitution G A 3_prime_UTR_variant UCEC-US 19 16524628 16524628 single base substitution G A downstream_gene_variant UCEC-US 19 16524628 16524628 single base substitution G A exon_variant UCEC-US 19 16524628 16524628 single base substitution G A stop_gained R254* 760C>T UCEC-US 19 16524628 16524628 single base substitution G A stop_gained R408* 1222C>T UCEC-US 19 16532242 16532242 single base substitution C A 3_prime_UTR_variant UCEC-US 19 16532242 16532242 single base substitution C A downstream_gene_variant UCEC-US 19 16532242 16532242 single base substitution C A exon_variant UCEC-US 19 16532242 16532242 single base substitution C A missense_variant D126Y 376G>T UCEC-US 19 16532242 16532242 single base substitution C A missense_variant D280Y 838G>T UCEC-US 19 16536020 16536020 single base substitution G A 3_prime_UTR_variant UCEC-US 19 16536020 16536020 single base substitution G A downstream_gene_variant UCEC-US 19 16536020 16536020 single base substitution G A exon_variant UCEC-US 19 16536020 16536020 single base substitution G A synonymous_variant A222A 666C>T UCEC-US 19 16536020 16536020 single base substitution G A synonymous_variant A68A 204C>T UCEC-US 19 16536020 16536020 single base substitution G A upstream_gene_variant UCEC-US 19 16536053 16536053 single base substitution G T 3_prime_UTR_variant UCEC-US 19 16536053 16536053 single base substitution G T downstream_gene_variant UCEC-US 19 16536053 16536053 single base substitution G T exon_variant UCEC-US 19 16536053 16536053 single base substitution G T synonymous_variant P211P 633C>A UCEC-US 19 16536053 16536053 single base substitution G T synonymous_variant P57P 171C>A UCEC-US 19 16536053 16536053 single base substitution G T upstream_gene_variant UCEC-US 19 16539558 16539558 single base substitution A G 3_prime_UTR_variant UCEC-US 19 16539558 16539558 single base substitution A G exon_variant UCEC-US 19 16539558 16539558 single base substitution A G synonymous_variant S171S 513T>C UCEC-US 19 16539558 16539558 single base substitution A G synonymous_variant S17S 51T>C UCEC-US 19 16539570 16539570 single base substitution G T splice_region_variant UCEC-US 19 16548590 16548590 single base substitution C T 3_prime_UTR_variant UCEC-US 19 16548590 16548590 single base substitution C T downstream_gene_variant UCEC-US 19 16548590 16548590 single base substitution C T exon_variant UCEC-US 19 16548590 16548590 single base substitution C T intron_variant UCEC-US 19 16548590 16548590 single base substitution C T synonymous_variant P100P 300G>A UCEC-US 19 16548590 16548590 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-DA-A1I5-06 COSM3530011 c.2263C>T p.P755S Substitution - Missense 19:16377239-16377239 - C135 COSM4617888 c.2130C>T p.P710P Substitution - coding silent 19:16386205-16386205 - NB1812 COSM5703042 c.1000G>A p.A334T Substitution - Missense 19:16418055-16418055 - SNU-C4 COSM4653051 c.832C>T p.R278* Substitution - Nonsense 19:16421437-16421437 - H23 COSM1196469 c.2426A>G p.E809G Substitution - Missense 19:16361939-16361939 - TCGA-32-2491-01 COSM3403892 c.1313T>C p.L438P Substitution - Missense 19:16404703-16404703 - TCGA-A6-6780-01 COSM1391258 c.960C>T p.A320A Substitution - coding silent 19:16418095-16418095 - YUHAMA COSM5388934 c.714C>T p.S238S Substitution - coding silent 19:16425161-16425161 - PCSI_0083_Pa_P_526 COSM3284617 c.51G>A p.S17S Substitution - coding silent 19:16442202-16442202 - TCGA-BP-4986-01 COSM4857673 c.617C>T p.P206L Substitution - Missense 19:16425258-16425258 - TCGA-AP-A0LM-01 COSM4873853 c.300G>A p.P100P Substitution - coding silent 19:16437779-16437779 - 2492722 COSM5722877 c.179C>T p.A60V Substitution - Missense 19:16440896-16440896 - TCGA-AN-A0FZ-01 COSM4816172 c.1608G>A p.T536T Substitution - coding silent 19:16403751-16403751 - YUHAMA COSM5388933 c.714C>T p.S238S Substitution - coding silent 19:16425161-16425161 - LUAD_E01147 COSM390553 c.887G>T p.G296V Substitution - Missense 19:16421382-16421382 - 1T COSM110390 c.2564C>T p.S855L Substitution - Missense 19:16361801-16361801 - TCGA-D9-A3Z1-06 COSM4899153 c.1110C>T p.D370D Substitution - coding silent 19:16417635-16417635 - TCGA-EE-A3J7-06 COSM4905688 c.2066C>T p.S689L Substitution - Missense 19:16392341-16392341 - SNU-C4 COSM4653052 c.832C>T p.R278* Substitution - Nonsense 19:16421437-16421437 - BHY COSM4592301 c.2078C>T p.T693M Substitution - Missense 19:16392329-16392329 - TCGA-EE-A3JA-06 COSM3530012 c.2179T>C p.L727L Substitution - coding silent 19:16385197-16385197 - tumor_4188879 COSM4653052 c.832C>T p.R278* Substitution - Nonsense 19:16421437-16421437 - C0065T COSM4909231 c.2533T>A p.S845T Substitution - Missense 19:16361832-16361832 - TCGA-B5-A11N-01 COSM4864137 c.2185C>T p.P729S Substitution - Missense 19:16385191-16385191 - TCGA-HT-7606-01 COSM3970786 c.2373G>A p.P791P Substitution - coding silent 19:16377129-16377129 - TCGA-B4-5844-01 COSM1494216 c.999C>T p.F333F Substitution - coding silent 19:16418056-16418056 - TCGA-HU-A4G9-01 COSM4075155 c.672C>T p.P224P Substitution - coding silent 19:16425203-16425203 - GB07 COSM1743278 c.2594G>T p.*865L Nonstop extension 19:16361771-16361771 - tumor_4188879 COSM4653051 c.832C>T p.R278* Substitution - Nonsense 19:16421437-16421437 - YUKLAB COSM1711985 c.1856C>T p.P619L Substitution - Missense 19:16395403-16395403 - TCGA-AA-3811-01 COSM5109124 c.314A>G p.D105G Substitution - Missense 19:16436995-16436995 - TCGA-IR-A3LL-01 COSM4850029 c.1225G>A p.E409K Substitution - Missense 19:16413814-16413814 - PTC-28C COSM4131354 c.864G>A p.L288L Substitution - coding silent 19:16421405-16421405 - PT52 COSM5940848 c.1907C>T p.P636L Substitution - Missense 19:16395352-16395352 - HCC20T COSM1611744 c.1067C>T p.P356L Substitution - Missense 19:16417988-16417988 - TCGA-D1-A16Y-01 COSM992444 c.2106C>T p.L702L Substitution - coding silent 19:16386229-16386229 - CSCC-29-T COSM4467238 c.1478C>T p.S493F Substitution - Missense 19:16403881-16403881 - CSCC-11-T COSM4451558 c.1284A>T p.L428L Substitution - coding silent 19:16404732-16404732 - TCGA-EE-A2MR-06 COSM3530017 c.996A>C p.Q332H Substitution - Missense 19:16418059-16418059 - TCGA-AO-A0J4-01 COSM438829 c.1080G>A p.P360P Substitution - coding silent 19:16417975-16417975 - TCGA-BQ-7044-01 COSM4908316 c.2094A>T p.L698F Substitution - Missense 19:16392313-16392313 - TCGA-BQ-7044-01 COSM3989771 c.2095C>T p.P699S Substitution - Missense 19:16392312-16392312 - SC_9005 COSM5547756 c.1537delA p.T513fs*21 Deletion - Frameshift 19:16403822-16403822 - ESCC_103 COSM5638181 c.731G>A p.S244N Substitution - Missense 19:16425144-16425144 - Pat_59_A COSM4850030 c.1225G>A p.E409K Substitution - Missense 19:16413814-16413814 - SJDES014-R1 COSM4580743 c.2241G>A p.M747I Substitution - Missense 19:16385135-16385135 - 0126_CRUK_PC_0126_T1_DNA COSM5421387 c.2103+4A>G p.? Unknown 19:16392300-16392300 - TCGA-EE-A29D-06 COSM3530018 c.676C>T p.L226L Substitution - coding silent 19:16425199-16425199 - TCGA-AP-A059-01 COSM992440 c.2577C>T p.D859D Substitution - coding silent 19:16361788-16361788 - TCGA-34-2596-01 COSM711363 c.1530G>A p.Q510Q Substitution - coding silent 19:16403829-16403829 - C0021T COSM4154074 c.2617G>A p.A873T Substitution - Missense 19:16355821-16355821 - TCGA-D1-A15X-01 COSM992451 c.633C>A p.P211P Substitution - coding silent 19:16425242-16425242 - Pat_59_A COSM4850029 c.1225G>A p.E409K Substitution - Missense 19:16413814-16413814 - TCGA-D1-A160-01 COSM992448 c.1222C>T p.R408* Substitution - Nonsense 19:16413817-16413817 - TCGA-D1-A17Q-01 COSM992449 c.838G>T p.D280Y Substitution - Missense 19:16421431-16421431 - S02342 COSM5692650 c.481C>G p.L161V Substitution - Missense 19:16434382-16434382 - TCGA-33-4583-01 COSM711361 c.791A>G p.Q264R Substitution - Missense 19:16425084-16425084 - I2L-P7-Tumor-Organoid COSM5365546 c.1777A>G p.S593G Substitution - Missense 19:16402335-16402335 - 40_FL COSM4170984 c.1315G>A p.E439K Substitution - Missense 19:16404701-16404701 - CSCC-29-T COSM4467237 c.1478C>T p.S493F Substitution - Missense 19:16403881-16403881 - TCGA-EE-A2GC-06 COSM4892404 c.2168C>T p.P723L Substitution - Missense 19:16385208-16385208 - 2492720 COSM5722877 c.179C>T p.A60V Substitution - Missense 19:16440896-16440896 - HCC135T COSM3718136 c.2112C>G p.P704P Substitution - coding silent 19:16386223-16386223 - 0126_CRUK_PC_0126_T1_DNA COSM5421386 c.2103+4A>G p.? Unknown 19:16392300-16392300 - TCGA-B5-A0JY-01 COSM992445 c.2028C>T p.D676D Substitution - coding silent 19:16392379-16392379 - TCGA-D1-A16Y-01 COSM4783350 c.2106C>T p.L702L Substitution - coding silent 19:16386229-16386229 - 3N04-VS-3T04 COSM4978682 c.1130C>G p.S377C Substitution - Missense 19:16417615-16417615 - TCGA-18-3416-01 COSM4859033 c.1799C>G p.P600R Substitution - Missense 19:16395460-16395460 - TCGA-AP-A0LM-01 COSM992453 c.501C>A p.V167V Substitution - coding silent 19:16428759-16428759 - PD13602a COSM5780061 c.2238G>T p.Q746H Substitution - Missense 19:16385138-16385138 - TCGA-GD-A2C5-01 COSM1304133 c.121C>T p.L41F Substitution - Missense 19:16441936-16441936 - S02292 COSM5687604 c.1409G>T p.C470F Substitution - Missense 19:16404607-16404607 - ESCC_168 COSM5648747 c.306A>G p.K102K Substitution - coding silent 19:16437773-16437773 - STC291 COSM5056337 c.654G>A p.V218V Substitution - coding silent 19:16425221-16425221 - TCGA-DK-A1AG-01 COSM4810744 c.909C>T p.F303F Substitution - coding silent 19:16421360-16421360 - TCGA-ER-A19J-06 COSM4892404 c.2168C>T p.P723L Substitution - Missense 19:16385208-16385208 - BHY COSM4592302 c.2078C>T p.T693M Substitution - Missense 19:16392329-16392329 - NCI-H23 COSM1196469 c.2426A>G p.E809G Substitution - Missense 19:16361939-16361939 - TCGA-BR-4292-01 COSM4906373 c.720G>A p.P240P Substitution - coding silent 19:16425155-16425155 - HCC135T COSM4781452 c.2112C>G p.P704P Substitution - coding silent 19:16386223-16386223 - TCGA-AA-3984-01 COSM297869 c.1615G>A p.E539K Substitution - Missense 19:16403744-16403744 - SW1116 COSM4279117 c.687C>T p.S229S Substitution - coding silent 19:16425188-16425188 - SNU-175 COSM3284579 c.1993delG p.E665fs*63 Deletion - Frameshift 19:16392414-16392414 - TCGA-B9-5155-01 COSM4908557 c.1655A>G p.E552G Substitution - Missense 19:16402457-16402457 - 24T COSM106878 c.1860C>T p.F620F Substitution - coding silent 19:16395399-16395399 - TCGA-18-3416-01 COSM711364 c.1799C>G p.P600R Substitution - Missense 19:16395460-16395460 - TCGA-B5-A11N-01 COSM992442 c.2185C>T p.P729S Substitution - Missense 19:16385191-16385191 - SJRHB024 COSM3737114 c.1147_1148delGT p.V383fs*4 Deletion - Frameshift 19:16417597-16417598 - LUAD-LIP77 COSM342264 c.1911C>T p.F637F Substitution - coding silent 19:16395348-16395348 - TCGA-CM-6171-01 COSM4784373 c.663C>T p.G221G Substitution - coding silent 19:16425212-16425212 - TCGA-BJ-A0ZB-01 COSM4907962 c.265G>A p.V89I Substitution - Missense 19:16437814-16437814 - L06 COSM5368763 c.1942G>A p.A648T Substitution - Missense 19:16393975-16393975 - TCGA-CG-5726-01 COSM4075153 c.1001C>T p.A334V Substitution - Missense 19:16418054-16418054 - YULAN COSM1711984 c.2305C>T p.P769S Substitution - Missense 19:16377197-16377197 - TCGA-13-0900-01 COSM118989 c.75+2T>C p.? Unknown 19:16442176-16442176 - 64 COSM5013392 c.166-1G>T p.? Unknown 19:16440910-16440910 - TCGA-24-1850-01 COSM1325424 c.84G>A p.P28P Substitution - coding silent 19:16441973-16441973 - 64 COSM5013393 c.166-1G>T p.? Unknown 19:16440910-16440910 - ESOCB11T COSM1172596 c.1852G>A p.D618N Substitution - Missense 19:16395407-16395407 - Pat_41_B COSM5854921 c.2150C>T p.S717F Substitution - Missense 19:16386185-16386185 - 759_T COSM3959678 c.1107+2T>G p.? Unknown 19:16417946-16417946 - TCGA-BR-8680-01 COSM4907124 c.1615G>A p.E539K Substitution - Missense 19:16403744-16403744 - PCSI_0083_Pa_X COSM3284617 c.51G>A p.S17S Substitution - coding silent 19:16442202-16442202 - NB1812 COSM5703041 c.1000G>A p.A334T Substitution - Missense 19:16418055-16418055 - LIM2405 COSM4642268 c.2379C>T p.S793S Substitution - coding silent 19:16377123-16377123 - TCGA-AX-A0J0-01 COSM992447 c.1913A>G p.K638R Substitution - Missense 19:16395346-16395346 - 3N04-VS-3T04 COSM4978683 c.1130C>G p.S377C Substitution - Missense 19:16417615-16417615 - C125 COSM4616779 c.317C>T p.T106I Substitution - Missense 19:16436992-16436992 - Au4 COSM5603497 c.627C>T p.I209I Substitution - coding silent 19:16425248-16425248 - Pat_26_A COSM5854924 c.1396G>A p.V466I Substitution - Missense 19:16404620-16404620 - TCGA-EE-A3JA-06 COSM4894707 c.2179T>C p.L727L Substitution - coding silent 19:16385197-16385197 - TCGA-CM-6171-01 COSM1391261 c.663C>T p.G221G Substitution - coding silent 19:16425212-16425212 - TCGA-A1-A0SN-01 COSM4816032 c.1067C>G p.P356R Substitution - Missense 19:16417988-16417988 - 8030340 COSM4945869 c.2120C>G p.S707C Substitution - Missense 19:16386215-16386215 - TCGA-D1-A160-01 COSM4871521 c.1222C>T p.R408* Substitution - Nonsense 19:16413817-16413817 - TCGA-A2-A3XV-01 COSM3822210 c.1119C>T p.G373G Substitution - coding silent 19:16417626-16417626 - 2492721 COSM5722877 c.179C>T p.A60V Substitution - Missense 19:16440896-16440896 - TCGA-ER-A198-06 COSM4892120 c.2447C>T p.P816L Substitution - Missense 19:16361918-16361918 - PD9571a COSM5779407 c.221A>G p.Y74C Substitution - Missense 19:16437858-16437858 - TCGA-DK-A3X1-01 COSM3796735 c.2232C>T p.F744F Substitution - coding silent 19:16385144-16385144 - T475 COSM4681451 c.606C>T p.S202S Substitution - coding silent 19:16425269-16425269 - TCGA-D1-A17Q-01 COSM4865210 c.1957A>G p.T653A Substitution - Missense 19:16393960-16393960 - TCGA-BR-4361-01 COSM4075152 c.1350C>T p.D450D Substitution - coding silent 19:16404666-16404666 - TCGA-D5-6926-01 COSM1391257 c.1288C>T p.R430W Substitution - Missense 19:16404728-16404728 - YUROC COSM5388932 c.2363G>A p.R788Q Substitution - Missense 19:16377139-16377139 - HT55 COSM4279113 c.813G>A p.V271V Substitution - coding silent 19:16421456-16421456 - TCGA-D1-A17Q-01 COSM4865447 c.838G>T p.D280Y Substitution - Missense 19:16421431-16421431 - PD9571a COSM5779408 c.221A>G p.Y74C Substitution - Missense 19:16437858-16437858 - SNU-C4 COSM4653054 c.367G>A p.V123M Substitution - Missense 19:16436942-16436942 - C086 COSM5530586 c.552C>T p.F184F Substitution - coding silent 19:16428708-16428708 - B98-Tumor COSM1750702 c.437C>T p.S146F Substitution - Missense 19:16434426-16434426 - T475 COSM4681450 c.606C>T p.S202S Substitution - coding silent 19:16425269-16425269 - TCGA-32-2491-01 COSM4781831 c.1313T>C p.L438P Substitution - Missense 19:16404703-16404703 - YUWAND COSM1711987 c.671C>T p.P224L Substitution - Missense 19:16425204-16425204 - CSCC-10-T COSM4467698 c.1503C>T p.A501A Substitution - coding silent 19:16403856-16403856 - HCC049T COSM5812104 c.1963A>G p.T655A Substitution - Missense 19:16393954-16393954 - DN11120 COSM5780061 c.2238G>T p.Q746H Substitution - Missense 19:16385138-16385138 - ESCC_168 COSM5648746 c.306A>G p.K102K Substitution - coding silent 19:16437773-16437773 - TCGA-AZ-4313-01 COSM5138458 c.1614C>T p.D538D Substitution - coding silent 19:16403745-16403745 - TCGA-BQ-7044-01 COSM4908317 c.192T>C p.G64G Substitution - coding silent 19:16440883-16440883 - TCGA-RP-A693-06 COSM4895936 c.2433C>T p.P811P Substitution - coding silent 19:16361932-16361932 - P100 COSM5009317 c.50C>T p.S17L Substitution - Missense 19:16442203-16442203 - HCC20 COSM1611744 c.1067C>T p.P356L Substitution - Missense 19:16417988-16417988 - CHEWS018 COSM4580746 c.2102A>G p.K701R Substitution - Missense 19:16392305-16392305 - SC_9063 COSM5559389 c.1522T>G p.L508V Substitution - Missense 19:16403837-16403837 - TCGA-BS-A0U8-01 COSM4870719 c.666C>T p.A222A Substitution - coding silent 19:16425209-16425209 - PTC-28C COSM4909390 c.864G>A p.L288L Substitution - coding silent 19:16421405-16421405 - PCSI_0083_Pa_X COSM4279128 c.51G>A p.S17S Substitution - coding silent 19:16442202-16442202 - TCGA-RP-A693-06 COSM4895937 c.2433C>T p.P811P Substitution - coding silent 19:16361932-16361932 - TCGA-BQ-7044-01 COSM4908318 c.2095C>T p.P699S Substitution - Missense 19:16392312-16392312 - EW8 COSM4580741 c.2352T>G p.P784P Substitution - coding silent 19:16377150-16377150 - TCGA-34-2596-01 COSM4859133 c.1530G>A p.Q510Q Substitution - coding silent 19:16403829-16403829 - S02342 COSM5692649 c.481C>G p.L161V Substitution - Missense 19:16434382-16434382 - TCGA-AP-A051-01 COSM4872569 c.2202C>A p.S734S Substitution - coding silent 19:16385174-16385174 - TCGA-AP-A0LM-01 COSM992454 c.300G>A p.P100P Substitution - coding silent 19:16437779-16437779 - B98-Tumor COSM4909030 c.437C>T p.S146F Substitution - Missense 19:16434426-16434426 - TCGA-D1-A15X-01 COSM4871945 c.633C>A p.P211P Substitution - coding silent 19:16425242-16425242 - C135 COSM4617889 c.2130C>T p.P710P Substitution - coding silent 19:16386205-16386205 - TCGA-29-1763-01 COSM1325425 c.416T>C p.L139S Substitution - Missense 19:16434447-16434447 - MD-053 COSM302148 c.174C>T p.D58D Substitution - coding silent 19:16440901-16440901 - TCGA-A1-A0SN-01 COSM1480725 c.1067C>G p.P356R Substitution - Missense 19:16417988-16417988 - TCGA-DD-A4NR-01 COSM4941160 c.428G>T p.G143V Substitution - Missense 19:16434435-16434435 - CSCC-31-T COSM4501723 c.596C>T p.P199L Substitution - Missense 19:16425279-16425279 - TCGA-BR-4292-01 COSM4075154 c.720G>A p.P240P Substitution - coding silent 19:16425155-16425155 - I2L-P7-Tumor-Organoid COSM5365545 c.1777A>G p.S593G Substitution - Missense 19:16402335-16402335 - Pat_41_B COSM5854922 c.2150C>T p.S717F Substitution - Missense 19:16386185-16386185 - T2944 COSM4681448 c.1416T>C p.D472D Substitution - coding silent 19:16404600-16404600 - TCGA-BS-A0U8-01 COSM992450 c.666C>T p.A222A Substitution - coding silent 19:16425209-16425209 - GB02 COSM1743277 c.1899A>G p.G633G Substitution - coding silent 19:16395360-16395360 - TCGA-BP-4986-01 COSM474300 c.617C>T p.P206L Substitution - Missense 19:16425258-16425258 - TCGA-AU-6004-01 COSM992444 c.2106C>T p.L702L Substitution - coding silent 19:16386229-16386229 - LIM2405 COSM4642269 c.2379C>T p.S793S Substitution - coding silent 19:16377123-16377123 - TCGA-BP-4161-01 COSM1136129 c.134A>G p.K45R Substitution - Missense 19:16441923-16441923 - CSCC-40-T COSM4463999 c.1314C>T p.L438L Substitution - coding silent 19:16404702-16404702 - HCC063T COSM5812702 c.1526A>T p.Q509L Substitution - Missense 19:16403833-16403833 - TCGA-GD-A2C5-01 COSM4811574 c.121C>T p.L41F Substitution - Missense 19:16441936-16441936 - TCGA-GM-A2DO-01 COSM3822211 c.282G>A p.L94L Substitution - coding silent 19:16437797-16437797 - B98 COSM1750702 c.437C>T p.S146F Substitution - Missense 19:16434426-16434426 - 1N58-VS-1T58 COSM4977499 c.1658G>T p.S553I Substitution - Missense 19:16402454-16402454 - SNU-175 COSM4336463 c.1993delG p.E665fs*63 Deletion - Frameshift 19:16392414-16392414 - SC_9063 COSM5559388 c.1522T>G p.L508V Substitution - Missense 19:16403837-16403837 - TCGA-AP-A051-01 COSM992441 c.2202C>A p.S734S Substitution - coding silent 19:16385174-16385174 - 2492720 COSM5722876 c.179C>T p.A60V Substitution - Missense 19:16440896-16440896 - C086 COSM5530584 c.2135C>T p.S712L Substitution - Missense 19:16386200-16386200 - 587224 COSM1205549 c.1787C>T p.A596V Substitution - Missense 19:16402325-16402325 - BD10T COSM5514578 c.1240A>G p.I414V Substitution - Missense 19:16413799-16413799 - TCGA-23-1123-01 COSM4947724 c.2192G>C p.G731A Substitution - Missense 19:16385184-16385184 - TCGA-24-0979-01 COSM69241 c.1107+1G>T p.? Unknown 19:16417947-16417947 - TCGA-B0-5097-01 COSM474299 c.746A>G p.N249S Substitution - Missense 19:16425129-16425129 - Au4 COSM5603498 c.627C>T p.I209I Substitution - coding silent 19:16425248-16425248 - TCGA-BR-4361-01 COSM4907826 c.1350C>T p.D450D Substitution - coding silent 19:16404666-16404666 - 2492722 COSM5722876 c.179C>T p.A60V Substitution - Missense 19:16440896-16440896 - RK207_C01 COSM3742801 c.1267-6C>T p.? Unknown 19:16404755-16404755 - CSCC-31-T COSM4501722 c.596C>T p.P199L Substitution - Missense 19:16425279-16425279 - TCGA-E8-A242-01 COSM3371199 c.2175A>T p.G725G Substitution - coding silent 19:16385201-16385201 - PCSI_0083_Pa_P COSM4279128 c.51G>A p.S17S Substitution - coding silent 19:16442202-16442202 - TCGA-BQ-7044-01 COSM3989774 c.192T>C p.G64G Substitution - coding silent 19:16440883-16440883 - TCGA-ER-A198-06 COSM3530010 c.2447C>T p.P816L Substitution - Missense 19:16361918-16361918 - TCGA-HT-7606-01 COSM4908889 c.2373G>A p.P791P Substitution - coding silent 19:16377129-16377129 - RKO COSM4279115 c.733G>A p.V245I Substitution - Missense 19:16425142-16425142 - P100 COSM5009315 c.1750G>A p.E584K Substitution - Missense 19:16402362-16402362 - TCGA-EE-A2A5-06 COSM3530015 c.1455A>G p.Q485Q Substitution - coding silent 19:16403904-16403904 - CSCC-27-T COSM4465284 c.1375C>T p.L459F Substitution - Missense 19:16404641-16404641 - PCSI_0083_Pa_P COSM3284617 c.51G>A p.S17S Substitution - coding silent 19:16442202-16442202 - CCK81 COSM4279112 c.917C>T p.S306L Substitution - Missense 19:16421352-16421352 - 408 COSM3284582 c.1923G>A p.P641P Substitution - coding silent 19:16393994-16393994 - TCGA-ER-A19J-06 COSM3530013 c.2168C>T p.P723L Substitution - Missense 19:16385208-16385208 - TCGA-IR-A3LL-01 COSM4850030 c.1225G>A p.E409K Substitution - Missense 19:16413814-16413814 - RKO COSM3284605 c.733G>A p.V245I Substitution - Missense 19:16425142-16425142 - ESO-0167 COSM1172596 c.1852G>A p.D618N Substitution - Missense 19:16395407-16395407 - SNU-C2B COSM4279100 c.1557T>C p.I519I Substitution - coding silent 19:16403802-16403802 - PD8969a COSM5789399 c.2250C>A p.P750P Substitution - coding silent 19:16377252-16377252 - TCGA-D9-A3Z1-06 COSM3530016 c.1110C>T p.D370D Substitution - coding silent 19:16417635-16417635 - TCGA-DK-A3X1-01 COSM438828 c.1149G>A p.V383V Substitution - coding silent 19:16417596-16417596 - T31 COSM5618414 c.716C>T p.T239M Substitution - Missense 19:16425159-16425159 - LUAD-D02085 COSM363304 c.1546G>T p.E516* Substitution - Nonsense 19:16403813-16403813 - TCGA-BQ-7044-01 COSM3989772 c.2094A>T p.L698F Substitution - Missense 19:16392313-16392313 - TCGA-BJ-A0ZB-01 COSM3371200 c.265G>A p.V89I Substitution - Missense 19:16437814-16437814 - TCGA-HU-A4G9-01 COSM4907688 c.672C>T p.P224P Substitution - coding silent 19:16425203-16425203 - 2492721 COSM5722876 c.179C>T p.A60V Substitution - Missense 19:16440896-16440896 - CSCC-11-T COSM4451559 c.1284A>T p.L428L Substitution - coding silent 19:16404732-16404732 - YUROC COSM5388931 c.2363G>A p.R788Q Substitution - Missense 19:16377139-16377139 - 2492723 COSM5722877 c.179C>T p.A60V Substitution - Missense 19:16440896-16440896 - BD10T COSM5514577 c.1240A>G p.I414V Substitution - Missense 19:16413799-16413799 - TCGA-B9-5155-01 COSM3989773 c.1655A>G p.E552G Substitution - Missense 19:16402457-16402457 - C125 COSM4616780 c.317C>T p.T106I Substitution - Missense 19:16436992-16436992 - TCGA-DD-A4NR-01 COSM4941159 c.428G>T p.G143V Substitution - Missense 19:16434435-16434435 - TCGA-BG-A0M4-01 COSM992443 c.2179T>A p.L727I Substitution - Missense 19:16385197-16385197 - TCGA-EE-A3J7-06 COSM3891802 c.2066C>T p.S689L Substitution - Missense 19:16392341-16392341 - H2009 COSM1193748 c.1483G>A p.E495K Substitution - Missense 19:16403876-16403876 - P60 COSM5008488 c.1488C>T p.D496D Substitution - coding silent 19:16403871-16403871 - ESO-717 COSM1242238 c.974C>T p.T325M Substitution - Missense 19:16418081-16418081 - EW8 COSM4580742 c.2352T>G p.P784P Substitution - coding silent 19:16377150-16377150 - TCGA-BG-A0M4-01 COSM4868144 c.2179T>A p.L727I Substitution - Missense 19:16385197-16385197 - TCGA-BP-4330-01 COSM3362741 c.158T>G p.L53R Substitution - Missense 19:16441899-16441899 - TCGA-AG-A002-01 COSM260710 c.1729A>G p.T577A Substitution - Missense 19:16402383-16402383 - CSCC-27-T COSM4465285 c.1375C>T p.L459F Substitution - Missense 19:16404641-16404641 - SNU-C4 COSM4653053 c.367G>A p.V123M Substitution - Missense 19:16436942-16436942 - TCGA-GM-A2DO-01 COSM4813991 c.282G>A p.L94L Substitution - coding silent 19:16437797-16437797 - TCGA-BP-4341-01 COSM3362740 c.355G>T p.A119S Substitution - Missense 19:16436954-16436954 - PT52 COSM5940849 c.1907C>T p.P636L Substitution - Missense 19:16395352-16395352 - BD228T COSM5508773 c.553G>A p.A185T Substitution - Missense 19:16428707-16428707 - TCGA-AA-3713-01 COSM1391259 c.692delC p.P231fs*37 Deletion - Frameshift 19:16425183-16425183 - TCGA-04-1361-01 COSM74532 c.2458G>C p.D820H Substitution - Missense 19:16361907-16361907 - TCGA-DK-A1AC-01 COSM1304132 c.780C>T p.L260L Substitution - coding silent 19:16425095-16425095 - CCK81 COSM3284602 c.917C>T p.S306L Substitution - Missense 19:16421352-16421352 - HT55 COSM3284603 c.813G>A p.V271V Substitution - coding silent 19:16421456-16421456 - 1N58-VS-1T58 COSM4977498 c.1658G>T p.S553I Substitution - Missense 19:16402454-16402454 - HCC135 COSM3718136 c.2112C>G p.P704P Substitution - coding silent 19:16386223-16386223 - P100 COSM5009316 c.50C>T p.S17L Substitution - Missense 19:16442203-16442203 - BD228T COSM5508772 c.553G>A p.A185T Substitution - Missense 19:16428707-16428707 - ccRCC-90 COSM1661701 c.1490A>G p.D497G Substitution - Missense 19:16403869-16403869 - TCGA-DK-A3X1-01 COSM4811370 c.2232C>T p.F744F Substitution - coding silent 19:16385144-16385144 - Pat_26_A COSM5854923 c.1396G>A p.V466I Substitution - Missense 19:16404620-16404620 - YUGOE COSM1711986 c.922C>T p.L308F Substitution - Missense 19:16421347-16421347 - CMLPh-005 COSM1234991 c.1289G>A p.R430Q Substitution - Missense 19:16404727-16404727 - C086 COSM5530585 c.2135C>T p.S712L Substitution - Missense 19:16386200-16386200 - SJDES014-R1 COSM4580744 c.2241G>A p.M747I Substitution - Missense 19:16385135-16385135 - TCGA-D5-6926-01 COSM4782722 c.1288C>T p.R430W Substitution - Missense 19:16404728-16404728 - TCGA-D1-A17Q-01 COSM992446 c.1957A>G p.T653A Substitution - Missense 19:16393960-16393960 - OSCC-GB_00270111 COSM4881174 c.1795G>A p.D599N Substitution - Missense 19:16395464-16395464 - YUPAT COSM1711983 c.2436T>A p.D812E Substitution - Missense 19:16361929-16361929 - TCGA-DA-A1I5-06 COSM4903945 c.2263C>T p.P755S Substitution - Missense 19:16377239-16377239 - BD124T COSM5493863 c.309+6T>A p.? Unknown 19:16437764-16437764 - CHEWS018 COSM4580745 c.2102A>G p.K701R Substitution - Missense 19:16392305-16392305 - C086 COSM5530587 c.552C>T p.F184F Substitution - coding silent 19:16428708-16428708 - DN11120 COSM5780060 c.2238G>T p.Q746H Substitution - Missense 19:16385138-16385138 - TCGA-B5-A0JY-01 COSM4869517 c.2028C>T p.D676D Substitution - coding silent 19:16392379-16392379 - CSB1 COSM5028512 c.231G>A p.L77L Substitution - coding silent 19:16437848-16437848 - 40_FL COSM4170985 c.1315G>A p.E439K Substitution - Missense 19:16404701-16404701 - HCC104 COSM1611745 c.678G>T p.L226L Substitution - coding silent 19:16425197-16425197 - CMLPh-005 COSM4424152 c.1289G>A p.R430Q Substitution - Missense 19:16404727-16404727 - TCGA-AO-A0J4-01 COSM4279110 c.1080G>A p.P360P Substitution - coding silent 19:16417975-16417975 - B11-Tumor COSM4908912 c.291C>T p.S97S Substitution - coding silent 19:16437788-16437788 - PD13602a COSM5780060 c.2238G>T p.Q746H Substitution - Missense 19:16385138-16385138 - 587220 COSM1205548 c.2427G>T p.E809D Substitution - Missense 19:16361938-16361938 - HCC049T COSM5812105 c.1963A>G p.T655A Substitution - Missense 19:16393954-16393954 - TCGA-AA-3713-01 COSM5105916 c.692delC p.P231fs*37 Deletion - Frameshift 19:16425183-16425183 - OSCC-GB_00270111 COSM3712737 c.1795G>A p.D599N Substitution - Missense 19:16395464-16395464 - 575 COSM3721657 c.1431C>G p.I477M Substitution - Missense 19:16403928-16403928 - TCGA-EE-A2MR-06 COSM4904166 c.996A>C p.Q332H Substitution - Missense 19:16418059-16418059 - SC_9005 COSM5547757 c.1537delA p.T513fs*21 Deletion - Frameshift 19:16403822-16403822 - TCGA-G9-7522-01 COSM1471091 c.2248C>T p.P750S Substitution - Missense 19:16377254-16377254 - PD8969a COSM5789400 c.2250C>A p.P750P Substitution - coding silent 19:16377252-16377252 - P100 COSM5009314 c.1750G>A p.E584K Substitution - Missense 19:16402362-16402362 - TCGA-BR-8487-01 COSM4279091 c.1923G>A p.P641P Substitution - coding silent 19:16393994-16393994 - P60 COSM5008489 c.1488C>T p.D496D Substitution - coding silent 19:16403871-16403871 - T31 COSM5618415 c.716C>T p.T239M Substitution - Missense 19:16425159-16425159 - SNU-C2B COSM3284591 c.1557T>C p.I519I Substitution - coding silent 19:16403802-16403802 - B11-Tumor COSM3932918 c.291C>T p.S97S Substitution - coding silent 19:16437788-16437788 - TCGA-CG-5726-01 COSM4907040 c.1001C>T p.A334V Substitution - Missense 19:16418054-16418054 - TCGA-BR-8680-01 COSM297869 c.1615G>A p.E539K Substitution - Missense 19:16403744-16403744 - TCGA-AP-A0LM-01 COSM4873156 c.501C>A p.V167V Substitution - coding silent 19:16428759-16428759 - TCGA-EE-A2A5-06 COSM4891947 c.1455A>G p.Q485Q Substitution - coding silent 19:16403904-16403904 - TCGA-G4-6588-01 COSM4782722 c.1288C>T p.R430W Substitution - Missense 19:16404728-16404728 - TCGA-EE-A2GC-06 COSM3530013 c.2168C>T p.P723L Substitution - Missense 19:16385208-16385208 - CSCC-10-T COSM4467699 c.1503C>T p.A501A Substitution - coding silent 19:16403856-16403856 - ccRCC-83 COSM1611744 c.1067C>T p.P356L Substitution - Missense 19:16417988-16417988 - HCC20T COSM4781075 c.1067C>T p.P356L Substitution - Missense 19:16417988-16417988 - TCGA-BP-4341-01 COSM4857875 c.355G>T p.A119S Substitution - Missense 19:16436954-16436954 - HCC063T COSM5812703 c.1526A>T p.Q509L Substitution - Missense 19:16403833-16403833 - TCGA-DK-A3X1-01 COSM4811372 c.1149G>A p.V383V Substitution - coding silent 19:16417596-16417596 - TCGA-BR-8487-01 COSM3284582 c.1923G>A p.P641P Substitution - coding silent 19:16393994-16393994 - TCGA-DK-A1AC-01 COSM4811947 c.780C>T p.L260L Substitution - coding silent 19:16425095-16425095 - TCGA-DA-A3F5-06 COSM3530014 c.1760C>T p.S587F Substitution - Missense 19:16402352-16402352 - TCGA-AP-A059-01 COSM4866443 c.2577C>T p.D859D Substitution - coding silent 19:16361788-16361788 - STC291 COSM5056336 c.654G>A p.V218V Substitution - coding silent 19:16425221-16425221 - TCGA-DA-A3F5-06 COSM4897944 c.1760C>T p.S587F Substitution - Missense 19:16402352-16402352 - 27T COSM3712737 c.1795G>A p.D599N Substitution - Missense 19:16395464-16395464 - TCGA-NH-A5IV-01 COSM5183096 c.218T>C p.F73S Substitution - Missense 19:16437861-16437861 - TCGA-DS-A0VM-01 COSM460032 c.2190C>T p.F730F Substitution - coding silent 19:16385186-16385186 - TCGA-G4-6588-01 COSM1391257 c.1288C>T p.R430W Substitution - Missense 19:16404728-16404728 - TCGA-AX-A0J0-01 COSM4867332 c.1913A>G p.K638R Substitution - Missense 19:16395346-16395346 - 10748 COSM3728043 c.376G>A p.E126K Substitution - Missense 19:16434487-16434487 - CSB1 COSM5028513 c.231G>A p.L77L Substitution - coding silent 19:16437848-16437848 - 2492723 COSM5722876 c.179C>T p.A60V Substitution - Missense 19:16440896-16440896 - BD124T COSM5493864 c.309+6T>A p.? Unknown 19:16437764-16437764 - L06 COSM5368762 c.1942G>A p.A648T Substitution - Missense 19:16393975-16393975 - TCGA-E8-A242-01 COSM4907988 c.2175A>T p.G725G Substitution - coding silent 19:16385201-16385201 - C0065T COSM4154075 c.2533T>A p.S845T Substitution - Missense 19:16361832-16361832 - TCGA-D1-A103-01 COSM992452 c.513T>C p.S171S Substitution - coding silent 19:16428747-16428747 - S02292 COSM5687603 c.1409G>T p.C470F Substitution - Missense 19:16404607-16404607 - TCGA-23-1123-01 COSM74533 c.2192G>C p.G731A Substitution - Missense 19:16385184-16385184 - TCGA-DM-A280-01 COSM3284602 c.917C>T p.S306L Substitution - Missense 19:16421352-16421352 - TCGA-33-4583-01 COSM4858550 c.791A>G p.Q264R Substitution - Missense 19:16425084-16425084 - TCGA-AN-A0FZ-01 COSM438827 c.1608G>A p.T536T Substitution - coding silent 19:16403751-16403751 - HCC104T COSM1611745 c.678G>T p.L226L Substitution - coding silent 19:16425197-16425197 - 408 COSM4279091 c.1923G>A p.P641P Substitution - coding silent 19:16393994-16393994 - ESCC_103 COSM5638182 c.731G>A p.S244N Substitution - Missense 19:16425144-16425144 - TCGA-BP-4330-01 COSM4858133 c.158T>G p.L53R Substitution - Missense 19:16441899-16441899 - HCC104T COSM4781149 c.678G>T p.L226L Substitution - coding silent 19:16425197-16425197 - TCGA-DK-A1AG-01 COSM1304131 c.909C>T p.F303F Substitution - coding silent 19:16421360-16421360 - T2944 COSM4681449 c.1416T>C p.D472D Substitution - coding silent 19:16404600-16404600 - RK207_C01 COSM4779720 c.1267-6C>T p.? Unknown 19:16404755-16404755 - TCGA-04-1361-01 COSM4947601 c.2458G>C p.D820H Substitution - Missense 19:16361907-16361907 - LUAD-S01345 COSM397005 c.112G>A p.E38K Substitution - Missense 19:16441945-16441945 - TCGA-D1-A103-01 COSM4874694 c.513T>C p.S171S Substitution - coding silent 19:16428747-16428747 - CSCC-40-T COSM4464000 c.1314C>T p.L438L Substitution - coding silent 19:16404702-16404702 - SW1116 COSM3284607 c.687C>T p.S229S Substitution - coding silent 19:16425188-16425188 - TCGA-B0-5097-01 COSM4857815 c.746A>G p.N249S Substitution - Missense 19:16425129-16425129 - 8030340 COSM3388678 c.2120C>G p.S707C Substitution - Missense 19:16386215-16386215 - TCGA-EE-A29D-06 COSM4905966 c.676C>T p.L226L Substitution - coding silent 19:16425199-16425199 - 1874577 COSM1234991 c.1289G>A p.R430Q Substitution - Missense 19:16404727-16404727 - TCGA-AU-6004-01 COSM4783350 c.2106C>T p.L702L Substitution - coding silent 19:16386229-16386229 - TCGA-A6-6780-01 COSM4786313 c.960C>T p.A320A Substitution - coding silent 19:16418095-16418095 - TCGA-A2-A3XV-01 COSM4814174 c.1119C>T p.G373G Substitution - coding silent 19:16417626-16417626 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.654638;Hs.654639 19p13.11

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L53R c.158T>G 19 16552710 RCCC A - Frameshift p.L18Cfs*26 c.53delT 19 16553011 CM A G Missense p.L438P c.1313T>C 19 16515514 GBM A G SpliceDonorSNV . c.75+2T>C 19 16552987 OV A G Synonymous p.L727L c.2179T>C 19 16496008 CM A T Missense p.L727I c.2179T>A 19 16496008 UCEC C A Missense p.A119S c.355G>T 19 16547765 RCCC C A Missense p.D690Y c.2068G>T 19 16503150 LUAD C A Missense p.D823Y c.2467G>T 19 16472709 LUAD C A Missense p.G292C c.874G>T 19 16532206 HNSC C A SpliceDonorSNV . c.1107+1G>T 19 16528758 OV C A Synonymous p.A334A c.1002G>T 19 16528864 HNSC C A Synonymous p.G252G c.756G>T 19 16535930 LUAD C G Missense p.D820H c.2458G>C 19 16472718 OV C G Missense p.G731A c.2192G>C 19 16495995 OV C T IntronicSNV . c.1266+416G>A 19 16524168 CM C T IntronicSNV . c.1792-3220G>A 19 16509498 HC C T Missense p.A29T c.85G>A 19 16552783 HNSC C T Missense p.D618N c.1852G>A 19 16506218 ESCA C T Missense p.E363K c.1087G>A 19 16528779 HNSC C T Missense p.R544K c.1631G>A 19 16513292 CM C T Missense p.V89I c.265G>A 19 16548625 THCA C T SpliceDonorSNV . c.309+1G>A 19 16548580 LUAD C T Synonymous p.L77L c.231G>A 19 16548659 BRCA C T Synonymous p.P240P c.720G>A 19 16535966 STAD C T Synonymous p.P360P c.1080G>A 19 16528786 BRCA C T Synonymous p.P791P c.2373G>A 19 16487940 LGG C T Synonymous p.Q510Q c.1530G>A 19 16514640 BRCA C T Synonymous p.Q510Q c.1530G>A 19 16514640 LUSC C T Synonymous p.T536T c.1608G>A 19 16514562 BRCA C T Synonymous p.V383V c.1149G>A 19 16528407 BRCA G A IntronicSNV . c.34-14742C>T 19 16567772 CLL G A Missense p.L41F c.121C>T 19 16552747 BLCA G A Missense p.P100S c.298C>T 19 16548592 LUAD G A Missense p.P206L c.617C>T 19 16536069 RCCC G A Missense p.P369L c.1106C>T 19 16528760 LUAD G A Missense p.P723L c.2168C>T 19 16496019 CM G A Missense p.P723S c.2167C>T 19 16496020 CM G A Missense p.P750S c.2248C>T 19 16488065 PRAD G A Missense p.P755S c.2263C>T 19 16488050 CM G A Missense p.P781S c.2341C>T 19 16487972 CM G A Missense p.P816L c.2447C>T 19 16472729 CM G A Missense p.S548F c.1643C>T 19 16513280 LUAD G A Missense p.S587F c.1760C>T 19 16513163 CM G A Missense p.S689L c.2066C>T 19 16503152 CM G A Nonsense p.R408* c.1222C>T 19 16524628 UCEC G A Synonymous p.A222A c.666C>T 19 16536020 STAD G A Synonymous p.A222A c.666C>T 19 16536020 UCEC G A Synonymous p.F303F c.909C>T 19 16532171 BLCA G A Synonymous p.L284L c.850C>T 19 16532230 CM G A Synonymous p.L533L c.1597C>T 19 16514573 CM G A Synonymous p.L702L c.2106C>T 19 16497040 UCEC G C Missense p.I477M c.1431C>G 19 16514739 HNSC G C Missense p.P356R c.1067C>G 19 16528799 BRCA G C Missense p.P600R c.1799C>G 19 16506271 LUSC G C Nonsense p.S654* c.1961C>G 19 16504767 HNSC GG AA Missense p.H120Y c.357_358delinsTT 19 16547762 CM GG AA Missense p.L138F c.411_412delinsTT 19 16545262 CM T A Synonymous p.G725G c.2175A>T 19 16496012 THCA T C IntronicSNV . c.34-824A>G 19 16553854 CLL T C Missense p.K330E c.988A>G 19 16528878 GBM T C Missense p.N249S c.746A>G 19 16535940 RCCC T C Missense p.Q264R c.791A>G 19 16535895 LUSC T C Synonymous p.Q485Q c.1455A>G 19 16514715 CM