Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 19 6822269 6822269 + Missense_Mutation SNP G G A TCGA-OR-A5LB-01A-11D-A29I-10 TCGA-OR-A5LB-10A-01D-A29L-10 g.chr19:6822269G>A c.487G>A c.(487-489)Gtg>Atg p.V163M ACC 19 6833562 6833562 + Missense_Mutation SNP G G A TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr19:6833562G>A c.1634G>A c.(1633-1635)cGc>cAc p.R545H ACC 19 6853959 6853959 + Splice_Site DEL G G - TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr19:6853959delG c.2334delG c.(2332-2334)gtg>gt p.V778fs BLCA 19 6772887 6772887 + Silent SNP G G C TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr19:6772887G>C c.69G>C c.(67-69)gtG>gtC p.V23V BLCA 19 6828100 6828100 + Missense_Mutation SNP G G C TCGA-2F-A9KT-01A-11D-A38G-08 TCGA-2F-A9KT-10A-01D-A38J-08 g.chr19:6828100G>C c.941G>C c.(940-942)aGa>aCa p.R314T BLCA 19 6828657 6828657 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 g.chr19:6828657G>T c.1117G>T c.(1117-1119)Gtc>Ttc p.V373F BLCA 19 6829822 6829822 + Missense_Mutation SNP C C G TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr19:6829822C>G c.1291C>G c.(1291-1293)Cta>Gta p.L431V BLCA 19 6829860 6829860 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr19:6829860C>T c.1329C>T c.(1327-1329)ctC>ctT p.L443L BLCA 19 6836572 6836572 + Nonsense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 g.chr19:6836572G>A c.1907G>A c.(1906-1908)tGg>tAg p.W636* BLCA 19 6837032 6837032 + Missense_Mutation SNP C C G TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr19:6837032C>G c.1951C>G c.(1951-1953)Cct>Gct p.P651A BLCA 19 6843175 6843175 + Silent SNP C C T TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr19:6843175C>T c.2010C>T c.(2008-2010)ctC>ctT p.L670L BLCA 19 6852987 6852987 + Missense_Mutation SNP G G T TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr19:6852987G>T c.2229G>T c.(2227-2229)gaG>gaT p.E743D BLCA 19 6853999 6853999 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 g.chr19:6853999G>A c.2374G>A c.(2374-2376)Gac>Aac p.D792N BLCA 19 6854018 6854018 + Missense_Mutation SNP G G A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr19:6854018G>A c.2393G>A c.(2392-2394)cGa>cAa p.R798Q BRCA 19 6826674 6826674 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 g.chr19:6826674C>G c.879C>G c.(877-879)caC>caG p.H293Q BRCA 19 6828862 6828862 + Missense_Mutation SNP G G A TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 g.chr19:6828862G>A c.1216G>A c.(1216-1218)Gac>Aac p.D406N BRCA 19 6828887 6828887 + Missense_Mutation SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr19:6828887T>G c.1241T>G c.(1240-1242)gTg>gGg p.V414G BRCA 19 6833624 6833624 + Nonsense_Mutation SNP C C T TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr19:6833624C>T c.1696C>T c.(1696-1698)Cga>Tga p.R566* BRCA 19 6833625 6833625 + Missense_Mutation SNP G G A TCGA-A7-A13F-01A-11D-A12Q-09 TCGA-A7-A13F-10A-01D-A12Q-09 g.chr19:6833625G>A c.1697G>A c.(1696-1698)cGa>cAa p.R566Q BRCA 19 6850694 6850694 + Missense_Mutation SNP G G A TCGA-EW-A1J3-01A-11D-A13L-09 TCGA-EW-A1J3-10A-01D-A13O-09 g.chr19:6850694G>A c.2143G>A c.(2143-2145)Gtc>Atc p.V715I CESC 19 6821677 6821677 + Missense_Mutation SNP G G C TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 g.chr19:6821677G>C c.366G>C c.(364-366)caG>caC p.Q122H CESC 19 6828096 6828096 + Nonsense_Mutation SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chr19:6828096C>T c.937C>T c.(937-939)Cag>Tag p.Q313* CESC 19 6828465 6828465 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr19:6828465G>A c.1059G>A c.(1057-1059)aaG>aaA p.K353K COAD 19 6772858 6772858 + Missense_Mutation SNP T T C TCGA-AA-A02K-01A-21W-A096-10 TCGA-AA-A02K-10A-01W-A096-10 g.chr19:6772858T>C c.40T>C c.(40-42)Tgc>Cgc p.C14R COAD 19 6773006 6773006 + Missense_Mutation SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr19:6773006G>A c.188G>A c.(187-189)cGc>cAc p.R63H COAD 19 6820770 6820770 + Missense_Mutation SNP C C T TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr19:6820770C>T c.262C>T c.(262-264)Ctc>Ttc p.L88F COAD 19 6821672 6821672 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr19:6821672G>A c.361G>A c.(361-363)Gcc>Acc p.A121T COAD 19 6822292 6822292 + Silent SNP C C T TCGA-AA-A01Z-01A-11W-A096-10 TCGA-AA-A01Z-11A-11W-A096-10 g.chr19:6822292C>T c.510C>T c.(508-510)ggC>ggT p.G170G COAD 19 6822292 6822292 + Silent SNP C C T TCGA-CM-6679-01A-11D-1835-10 TCGA-CM-6679-10A-01D-1835-10 g.chr19:6822292C>T c.510C>T c.(508-510)ggC>ggT p.G170G COAD 19 6822293 6822293 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr19:6822293G>A c.511G>A c.(511-513)Gac>Aac p.D171N COAD 19 6822322 6822322 + Silent SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr19:6822322G>A c.540G>A c.(538-540)tcG>tcA p.S180S COAD 19 6826655 6826655 + Missense_Mutation SNP T T C TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr19:6826655T>C c.860T>C c.(859-861)gTg>gCg p.V287A COAD 19 6828149 6828149 + Missense_Mutation SNP G G T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr19:6828149G>T c.990G>T c.(988-990)atG>atT p.M330I COAD 19 6828174 6828174 + Missense_Mutation SNP C C A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr19:6828174C>A c.1015C>A c.(1015-1017)Ctt>Att p.L339I COAD 19 6828175 6828175 + Missense_Mutation SNP T T C TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr19:6828175T>C c.1016T>C c.(1015-1017)cTt>cCt p.L339P COAD 19 6828437 6828437 + Missense_Mutation SNP T T C TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr19:6828437T>C c.1031T>C c.(1030-1032)gTg>gCg p.V344A COAD 19 6828446 6828446 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr19:6828446C>T c.1040C>T c.(1039-1041)aCg>aTg p.T347M COAD 19 6828648 6828648 + Missense_Mutation SNP G G A TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr19:6828648G>A c.1108G>A c.(1108-1110)Gtg>Atg p.V370M COAD 19 6829894 6829894 + Missense_Mutation SNP C C T TCGA-AA-A02O-01A-21W-A096-10 TCGA-AA-A02O-11A-11W-A096-10 g.chr19:6829894C>T c.1363C>T c.(1363-1365)Cgg>Tgg p.R455W COAD 19 6829915 6829915 + Nonsense_Mutation SNP C C T TCGA-AA-A01G-01A-01W-A005-10 TCGA-AA-A01G-10A-01W-A005-10 g.chr19:6829915C>T c.1384C>T c.(1384-1386)Cga>Tga p.R462* COAD 19 6829926 6829926 + Missense_Mutation SNP G G T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr19:6829926G>T c.1395G>T c.(1393-1395)aaG>aaT p.K465N COAD 19 6832126 6832126 + Missense_Mutation SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr19:6832126G>A c.1423G>A c.(1423-1425)Gag>Aag p.E475K COAD 19 6833228 6833228 + Silent SNP C C T TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr19:6833228C>T c.1542C>T c.(1540-1542)aaC>aaT p.N514N COAD 19 6833931 6833931 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr19:6833931C>T c.1744C>T c.(1744-1746)Cgc>Tgc p.R582C COAD 19 6836519 6836519 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr19:6836519G>A c.1854G>A c.(1852-1854)cgG>cgA p.R618R COAD 19 6836542 6836542 + Missense_Mutation SNP A A G TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr19:6836542A>G c.1877A>G c.(1876-1878)gAg>gGg p.E626G COAD 19 6836549 6836549 + Silent SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr19:6836549G>A c.1884G>A c.(1882-1884)acG>acA p.T628T COAD 19 6848029 6848029 + Missense_Mutation SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr19:6848029G>A c.2033G>A c.(2032-2034)cGg>cAg p.R678Q COAD 19 6848082 6848082 + Missense_Mutation SNP C C T TCGA-AA-3531-01A-01W-0831-10 TCGA-AA-3531-10A-01W-0831-10 g.chr19:6848082C>T c.2086C>T c.(2086-2088)Cgg>Tgg p.R696W COAD 19 6852999 6852999 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr19:6852999G>T c.2241G>T c.(2239-2241)caG>caT p.Q747H COAD 19 6857116 6857116 + Nonstop_Mutation SNP T T C TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr19:6857116T>C c.2536T>C c.(2536-2538)Tga>Cga p.*846R COADREAD 19 6772858 6772858 + Missense_Mutation SNP T T C TCGA-AA-A02K-01A-21W-A096-10 TCGA-AA-A02K-10A-01W-A096-10 g.chr19:6772858T>C c.40T>C c.(40-42)Tgc>Cgc p.C14R COADREAD 19 6773006 6773006 + Missense_Mutation SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr19:6773006G>A c.188G>A c.(187-189)cGc>cAc p.R63H COADREAD 19 6820770 6820770 + Missense_Mutation SNP C C T TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr19:6820770C>T c.262C>T c.(262-264)Ctc>Ttc p.L88F COADREAD 19 6821672 6821672 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr19:6821672G>A c.361G>A c.(361-363)Gcc>Acc p.A121T COADREAD 19 6822292 6822292 + Silent SNP C C T TCGA-AA-A01Z-01A-11W-A096-10 TCGA-AA-A01Z-11A-11W-A096-10 g.chr19:6822292C>T c.510C>T c.(508-510)ggC>ggT p.G170G COADREAD 19 6822292 6822292 + Silent SNP C C T TCGA-CM-6679-01A-11D-1835-10 TCGA-CM-6679-10A-01D-1835-10 g.chr19:6822292C>T c.510C>T c.(508-510)ggC>ggT p.G170G COADREAD 19 6822293 6822293 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr19:6822293G>A c.511G>A c.(511-513)Gac>Aac p.D171N COADREAD 19 6822322 6822322 + Silent SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr19:6822322G>A c.540G>A c.(538-540)tcG>tcA p.S180S COADREAD 19 6826655 6826655 + Missense_Mutation SNP T T C TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr19:6826655T>C c.860T>C c.(859-861)gTg>gCg p.V287A COADREAD 19 6828149 6828149 + Missense_Mutation SNP G G T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr19:6828149G>T c.990G>T c.(988-990)atG>atT p.M330I COADREAD 19 6828174 6828174 + Missense_Mutation SNP C C A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr19:6828174C>A c.1015C>A c.(1015-1017)Ctt>Att p.L339I COADREAD 19 6828175 6828175 + Missense_Mutation SNP T T C TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr19:6828175T>C c.1016T>C c.(1015-1017)cTt>cCt p.L339P COADREAD 19 6828437 6828437 + Missense_Mutation SNP T T C TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr19:6828437T>C c.1031T>C c.(1030-1032)gTg>gCg p.V344A COADREAD 19 6828446 6828446 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr19:6828446C>T c.1040C>T c.(1039-1041)aCg>aTg p.T347M COADREAD 19 6828648 6828648 + Missense_Mutation SNP G G A TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr19:6828648G>A c.1108G>A c.(1108-1110)Gtg>Atg p.V370M COADREAD 19 6829846 6829846 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr19:6829846G>T c.1315G>T c.(1315-1317)Gac>Tac p.D439Y COADREAD 19 6829894 6829894 + Missense_Mutation SNP C C T TCGA-AA-A02O-01A-21W-A096-10 TCGA-AA-A02O-11A-11W-A096-10 g.chr19:6829894C>T c.1363C>T c.(1363-1365)Cgg>Tgg p.R455W COADREAD 19 6829915 6829915 + Nonsense_Mutation SNP C C T TCGA-AA-A01G-01A-01W-A005-10 TCGA-AA-A01G-10A-01W-A005-10 g.chr19:6829915C>T c.1384C>T c.(1384-1386)Cga>Tga p.R462* COADREAD 19 6829926 6829926 + Missense_Mutation SNP G G T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr19:6829926G>T c.1395G>T c.(1393-1395)aaG>aaT p.K465N COADREAD 19 6832126 6832126 + Missense_Mutation SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr19:6832126G>A c.1423G>A c.(1423-1425)Gag>Aag p.E475K COADREAD 19 6833228 6833228 + Silent SNP C C T TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr19:6833228C>T c.1542C>T c.(1540-1542)aaC>aaT p.N514N COADREAD 19 6833931 6833931 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr19:6833931C>T c.1744C>T c.(1744-1746)Cgc>Tgc p.R582C COADREAD 19 6836519 6836519 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr19:6836519G>A c.1854G>A c.(1852-1854)cgG>cgA p.R618R COADREAD 19 6836542 6836542 + Missense_Mutation SNP A A G TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr19:6836542A>G c.1877A>G c.(1876-1878)gAg>gGg p.E626G COADREAD 19 6836549 6836549 + Silent SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr19:6836549G>A c.1884G>A c.(1882-1884)acG>acA p.T628T COADREAD 19 6848029 6848029 + Missense_Mutation SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr19:6848029G>A c.2033G>A c.(2032-2034)cGg>cAg p.R678Q COADREAD 19 6848082 6848082 + Missense_Mutation SNP C C T TCGA-AA-3531-01A-01W-0831-10 TCGA-AA-3531-10A-01W-0831-10 g.chr19:6848082C>T c.2086C>T c.(2086-2088)Cgg>Tgg p.R696W COADREAD 19 6852999 6852999 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr19:6852999G>T c.2241G>T c.(2239-2241)caG>caT p.Q747H COADREAD 19 6857081 6857081 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr19:6857081C>A c.2501C>A c.(2500-2502)gCc>gAc p.A834D COADREAD 19 6857116 6857116 + Nonstop_Mutation SNP T T C TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr19:6857116T>C c.2536T>C c.(2536-2538)Tga>Cga p.*846R ESCA 19 6821807 6821807 + Missense_Mutation SNP T T C TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 g.chr19:6821807T>C c.386T>C c.(385-387)tTc>tCc p.F129S ESCA 19 6826687 6826687 + Missense_Mutation SNP G G T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 g.chr19:6826687G>T c.892G>T c.(892-894)Gcc>Tcc p.A298S ESCA 19 6829897 6829897 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 g.chr19:6829897G>T c.1366G>T c.(1366-1368)Gat>Tat p.D456Y ESCA 19 6832176 6832178 + In_Frame_Del DEL GAA GAA - TCGA-JY-A938-01A-11D-A37C-09 TCGA-JY-A938-10A-01D-A37F-09 g.chr19:6832176_6832178delGAA c.1473_1475delGAA c.(1471-1476)ttgaag>ttg p.K494del ESCA 19 6833223 6833223 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 g.chr19:6833223G>T c.1537G>T c.(1537-1539)Gcc>Tcc p.A513S ESCA 19 6833625 6833625 + Missense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 g.chr19:6833625G>A c.1697G>A c.(1696-1698)cGa>cAa p.R566Q ESCA 19 6848009 6848009 + Splice_Site SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 g.chr19:6848009G>A c.2013G>A c.(2011-2013)tgG>tgA p.W671* ESCA 19 6853990 6853990 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 g.chr19:6853990G>T c.2365G>T c.(2365-2367)Gcc>Tcc p.A789S GBM 19 6772889 6772889 + Missense_Mutation SNP C C A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 g.chr19:6772889C>A c.71C>A c.(70-72)aCc>aAc p.T24N GBM 19 6828653 6828653 + Silent SNP C C T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 g.chr19:6828653C>T c.1113C>T c.(1111-1113)aaC>aaT p.N371N GBM 19 6828671 6828671 + Silent SNP C C T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 g.chr19:6828671C>T c.1131C>T c.(1129-1131)aaC>aaT p.N377N GBM 19 6828672 6828672 + Missense_Mutation SNP G G A TCGA-19-5954-01A-11D-1696-08 TCGA-19-5954-11A-01D-1696-08 g.chr19:6828672G>A c.1132G>A c.(1132-1134)Gag>Aag p.E378K GBM 19 6843162 6843162 + Missense_Mutation SNP T T C TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 g.chr19:6843162T>C c.1997T>C c.(1996-1998)cTg>cCg p.L666P GBM 19 6854017 6854017 + Nonsense_Mutation SNP C C T TCGA-74-6575-01A-11D-1845-08 TCGA-74-6575-10A-01D-1845-08 g.chr19:6854017C>T c.2392C>T c.(2392-2394)Cga>Tga p.R798* GBMLGG 19 6772867 6772867 + Missense_Mutation SNP C C G TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr19:6772867C>G c.49C>G c.(49-51)Ctg>Gtg p.L17V GBMLGG 19 6772889 6772889 + Missense_Mutation SNP C C A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 g.chr19:6772889C>A c.71C>A c.(70-72)aCc>aAc p.T24N GBMLGG 19 6828446 6828446 + Missense_Mutation SNP C C T TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 g.chr19:6828446C>T c.1040C>T c.(1039-1041)aCg>aTg p.T347M GBMLGG 19 6828653 6828653 + Silent SNP C C T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 g.chr19:6828653C>T c.1113C>T c.(1111-1113)aaC>aaT p.N371N GBMLGG 19 6828671 6828671 + Silent SNP C C T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 g.chr19:6828671C>T c.1131C>T c.(1129-1131)aaC>aaT p.N377N GBMLGG 19 6828672 6828672 + Missense_Mutation SNP G G A TCGA-19-5954-01A-11D-1696-08 TCGA-19-5954-11A-01D-1696-08 g.chr19:6828672G>A c.1132G>A c.(1132-1134)Gag>Aag p.E378K GBMLGG 19 6829843 6829843 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:6829843G>A c.1312G>A c.(1312-1314)Gga>Aga p.G438R GBMLGG 19 6829876 6829876 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:6829876C>A c.1345C>A c.(1345-1347)Ctg>Atg p.L449M GBMLGG 19 6833209 6833209 + Missense_Mutation SNP C C T TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 g.chr19:6833209C>T c.1523C>T c.(1522-1524)cCg>cTg p.P508L GBMLGG 19 6843162 6843162 + Missense_Mutation SNP T T C TCGA-12-3653-01A-01D-1495-08 TCGA-12-3653-10A-01D-1495-08 g.chr19:6843162T>C c.1997T>C c.(1996-1998)cTg>cCg p.L666P GBMLGG 19 6854017 6854017 + Nonsense_Mutation SNP C C T TCGA-74-6575-01A-11D-1845-08 TCGA-74-6575-10A-01D-1845-08 g.chr19:6854017C>T c.2392C>T c.(2392-2394)Cga>Tga p.R798* HNSC 19 6826656 6826656 + Frame_Shift_Del DEL G G - TCGA-BA-A6DG-01A-21D-A30E-08 TCGA-BA-A6DG-10A-01D-A30H-08 g.chr19:6826656delG c.861delG c.(859-861)gtgfs p.V287fs HNSC 19 6828659 6828659 + Silent SNP C C G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 g.chr19:6828659C>G c.1119C>G c.(1117-1119)gtC>gtG p.V373V HNSC 19 6829898 6829898 + Missense_Mutation SNP A A T TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 g.chr19:6829898A>T c.1367A>T c.(1366-1368)gAt>gTt p.D456V HNSC 19 6833552 6833552 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 g.chr19:6833552C>G c.1624C>G c.(1624-1626)Cag>Gag p.Q542E HNSC 19 6843175 6843175 + Silent SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 g.chr19:6843175C>G c.2010C>G c.(2008-2010)ctC>ctG p.L670L HNSC 19 6850734 6850734 + Missense_Mutation SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 g.chr19:6850734G>A c.2183G>A c.(2182-2184)cGg>cAg p.R728Q HNSC 19 6850745 6850746 + Frame_Shift_Ins INS - - G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr19:6850745_6850746insG c.2194_2195insG c.(2194-2196)aaafs p.K732fs HNSC 19 6854107 6854107 + Missense_Mutation SNP C C T TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 g.chr19:6854107C>T c.2482C>T c.(2482-2484)Cgg>Tgg p.R828W HNSC 19 6854109 6854109 + Splice_Site SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 g.chr19:6854109G>T c.2484G>T c.(2482-2484)cgG>cgT p.R828R KIPAN 19 6821672 6821672 + Missense_Mutation SNP G G A TCGA-G7-A8LE-01A-11D-A35Z-10 TCGA-G7-A8LE-10A-01D-A35Z-10 g.chr19:6821672G>A c.361G>A c.(361-363)Gcc>Acc p.A121T KIPAN 19 6828475 6828475 + Missense_Mutation SNP C C T TCGA-B0-5699-01A-11D-1534-10 TCGA-B0-5699-11A-01D-1534-10 g.chr19:6828475C>T c.1069C>T c.(1069-1071)Cgg>Tgg p.R357W KIPAN 19 6828883 6828883 + Missense_Mutation SNP T T C TCGA-BP-4981-01A-01D-1462-08 TCGA-BP-4981-11A-01D-1462-08 g.chr19:6828883T>C c.1237T>C c.(1237-1239)Tcg>Ccg p.S413P KIPAN 19 6833546 6833546 + Missense_Mutation SNP T T G TCGA-G7-6796-01A-11D-1961-08 TCGA-G7-6796-10A-01D-1962-08 g.chr19:6833546T>G c.1618T>G c.(1618-1620)Ttc>Gtc p.F540V KIPAN 19 6853050 6853050 + Silent SNP C C T TCGA-BP-4963-01A-01D-1462-08 TCGA-BP-4963-11A-01D-1462-08 g.chr19:6853050C>T c.2292C>T c.(2290-2292)ccC>ccT p.P764P KIPAN 19 6853974 6853974 + Nonsense_Mutation SNP T T G TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 g.chr19:6853974T>G c.2349T>G c.(2347-2349)taT>taG p.Y783* KIPAN 19 6854009 6854009 + Missense_Mutation SNP C C T TCGA-5P-A9KA-01A-11D-A42J-10 TCGA-5P-A9KA-10A-01D-A42M-10 g.chr19:6854009C>T c.2384C>T c.(2383-2385)gCc>gTc p.A795V KIRC 19 6828475 6828475 + Missense_Mutation SNP C C T TCGA-B0-5699-01A-11D-1534-10 TCGA-B0-5699-11A-01D-1534-10 g.chr19:6828475C>T c.1069C>T c.(1069-1071)Cgg>Tgg p.R357W KIRC 19 6828883 6828883 + Missense_Mutation SNP T T C TCGA-BP-4981-01A-01D-1462-08 TCGA-BP-4981-11A-01D-1462-08 g.chr19:6828883T>C c.1237T>C c.(1237-1239)Tcg>Ccg p.S413P KIRC 19 6853050 6853050 + Silent SNP C C T TCGA-BP-4963-01A-01D-1462-08 TCGA-BP-4963-11A-01D-1462-08 g.chr19:6853050C>T c.2292C>T c.(2290-2292)ccC>ccT p.P764P KIRC 19 6853974 6853974 + Nonsense_Mutation SNP T T G TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 g.chr19:6853974T>G c.2349T>G c.(2347-2349)taT>taG p.Y783* KIRP 19 6821672 6821672 + Missense_Mutation SNP G G A TCGA-G7-A8LE-01A-11D-A35Z-10 TCGA-G7-A8LE-10A-01D-A35Z-10 g.chr19:6821672G>A c.361G>A c.(361-363)Gcc>Acc p.A121T KIRP 19 6833546 6833546 + Missense_Mutation SNP T T G TCGA-G7-6796-01A-11D-1961-08 TCGA-G7-6796-10A-01D-1962-08 g.chr19:6833546T>G c.1618T>G c.(1618-1620)Ttc>Gtc p.F540V KIRP 19 6854009 6854009 + Missense_Mutation SNP C C T TCGA-5P-A9KA-01A-11D-A42J-10 TCGA-5P-A9KA-10A-01D-A42M-10 g.chr19:6854009C>T c.2384C>T c.(2383-2385)gCc>gTc p.A795V LGG 19 6772867 6772867 + Missense_Mutation SNP C C G TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr19:6772867C>G c.49C>G c.(49-51)Ctg>Gtg p.L17V LGG 19 6828446 6828446 + Missense_Mutation SNP C C T TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 g.chr19:6828446C>T c.1040C>T c.(1039-1041)aCg>aTg p.T347M LGG 19 6829843 6829843 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:6829843G>A c.1312G>A c.(1312-1314)Gga>Aga p.G438R LGG 19 6829876 6829876 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:6829876C>A c.1345C>A c.(1345-1347)Ctg>Atg p.L449M LGG 19 6833209 6833209 + Missense_Mutation SNP C C T TCGA-DU-6397-01A-11D-1705-08 TCGA-DU-6397-10A-01D-1705-08 g.chr19:6833209C>T c.1523C>T c.(1522-1524)cCg>cTg p.P508L LIHC 19 6773000 6773000 + Missense_Mutation SNP A A T TCGA-RC-A6M4-01A-11D-A32G-10 TCGA-RC-A6M4-10A-01D-A32G-10 g.chr19:6773000A>T c.182A>T c.(181-183)aAc>aTc p.N61I LIHC 19 6828673 6828673 + Missense_Mutation SNP A A G TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr19:6828673A>G c.1133A>G c.(1132-1134)gAg>gGg p.E378G LIHC 19 6833726 6833726 + Missense_Mutation SNP C C A TCGA-G3-A7M9-01A-23D-A34Z-10 TCGA-G3-A7M9-10A-01D-A34Z-10 g.chr19:6833726C>A c.1713C>A c.(1711-1713)ttC>ttA p.F571L LIHC 19 6853046 6853046 + Missense_Mutation SNP T T C TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr19:6853046T>C c.2288T>C c.(2287-2289)tTc>tCc p.F763S LUAD 19 6772930 6772930 + Silent SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 g.chr19:6772930C>A c.112C>A c.(112-114)Cgg>Agg p.R38R LUAD 19 6773018 6773018 + Missense_Mutation SNP C C A TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr19:6773018C>A c.200C>A c.(199-201)tCc>tAc p.S67Y LUAD 19 6820742 6820742 + Missense_Mutation SNP C C A TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr19:6820742C>A c.234C>A c.(232-234)ttC>ttA p.F78L LUAD 19 6821692 6821692 + Splice_Site SNP G G T TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr19:6821692G>T c.e3+1 LUAD 19 6825072 6825072 + Missense_Mutation SNP G G C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 g.chr19:6825072G>C c.663G>C c.(661-663)ttG>ttC p.L221F LUAD 19 6828129 6828129 + Missense_Mutation SNP G G T TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr19:6828129G>T c.970G>T c.(970-972)Gac>Tac p.D324Y LUAD 19 6828653 6828653 + Silent SNP C C T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 g.chr19:6828653C>T c.1113C>T c.(1111-1113)aaC>aaT p.N371N LUAD 19 6832113 6832113 + Missense_Mutation SNP G G T TCGA-86-8279-01A-11D-2284-08 TCGA-86-8279-10A-01D-2284-08 g.chr19:6832113G>T c.1410G>T c.(1408-1410)atG>atT p.M470I LUAD 19 6848029 6848029 + Missense_Mutation SNP G G A TCGA-86-7711-01A-11D-2063-08 TCGA-86-7711-10A-01D-2063-08 g.chr19:6848029G>A c.2033G>A c.(2032-2034)cGg>cAg p.R678Q LUAD 19 6848051 6848051 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr19:6848051G>T c.2055G>T c.(2053-2055)ctG>ctT p.L685L LUAD 19 6854071 6854071 + Nonsense_Mutation SNP G G T TCGA-55-8511-01A-11D-2393-08 TCGA-55-8511-10A-01D-2393-08 g.chr19:6854071G>T c.2446G>T c.(2446-2448)Gga>Tga p.G816* LUSC 19 6825109 6825109 + Missense_Mutation SNP G G C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr19:6825109G>C c.700G>C c.(700-702)Gag>Cag p.E234Q LUSC 19 6825111 6825111 + Missense_Mutation SNP G G T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 g.chr19:6825111G>T c.702G>T c.(700-702)gaG>gaT p.E234D LUSC 19 6828713 6828713 + Missense_Mutation SNP G G C TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chr19:6828713G>C c.1173G>C c.(1171-1173)gaG>gaC p.E391D LUSC 19 6829837 6829837 + Missense_Mutation SNP C C A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 g.chr19:6829837C>A c.1306C>A c.(1306-1308)Cgc>Agc p.R436S LUSC 19 6833552 6833552 + Missense_Mutation SNP C C G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 g.chr19:6833552C>G c.1624C>G c.(1624-1626)Cag>Gag p.Q542E LUSC 19 6853990 6853990 + Missense_Mutation SNP G G A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr19:6853990G>A c.2365G>A c.(2365-2367)Gcc>Acc p.A789T LUSC 19 6854071 6854071 + Missense_Mutation SNP G G C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 g.chr19:6854071G>C c.2446G>C c.(2446-2448)Gga>Cga p.G816R OV 19 6828827 6828827 + Splice_Site SNP A A G TCGA-24-1556-01A-01W-0615-10 TCGA-24-1556-10A-01W-0615-10 g.chr19:6828827A>G c.1181A>G c.(1180-1182)gAc>gGc p.D394G OV 19 6828900 6828900 + Silent SNP C C G TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 g.chr19:6828900C>G c.1254C>G c.(1252-1254)tcC>tcG p.S418S OV 19 6829836 6829836 + Missense_Mutation SNP G G T TCGA-24-1546-01A-01W-0615-10 TCGA-24-1546-10A-01W-0615-10 g.chr19:6829836G>T c.1305G>T c.(1303-1305)aaG>aaT p.K435N OV 19 6832147 6832147 + Missense_Mutation SNP T T C TCGA-24-1545-01A-01W-0615-10 TCGA-24-1545-10A-01W-0615-10 g.chr19:6832147T>C c.1444T>C c.(1444-1446)Tat>Cat p.Y482H PAAD 19 6820720 6820720 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:6820720G>A c.212G>A c.(211-213)tGc>tAc p.C71Y PAAD 19 6828153 6828153 + Nonsense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 g.chr19:6828153C>T c.994C>T c.(994-996)Cga>Tga p.R332* PAAD 19 6828154 6828154 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:6828154G>A c.995G>A c.(994-996)cGa>cAa p.R332Q PAAD 19 6828892 6828892 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:6828892C>T c.1246C>T c.(1246-1248)Cgg>Tgg p.R416W PAAD 19 6829851 6829851 + Silent SNP C C G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 g.chr19:6829851C>G c.1320C>G c.(1318-1320)tcC>tcG p.S440S PAAD 19 6836997 6836997 + Splice_Site SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:6836997G>A c.1916G>A c.(1915-1917)gGc>gAc p.G639D PAAD 19 6848025 6848025 + Nonsense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:6848025G>T c.2029G>T c.(2029-2031)Gag>Tag p.E677* PAAD 19 6853988 6853988 + Missense_Mutation SNP A A T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 g.chr19:6853988A>T c.2363A>T c.(2362-2364)aAa>aTa p.K788I PAAD 19 6857088 6857088 + Silent SNP C C T TCGA-IB-AAUS-01A-12D-A38G-08 TCGA-IB-AAUS-10A-01D-A38J-08 g.chr19:6857088C>T c.2508C>T c.(2506-2508)taC>taT p.Y836Y PCPG 19 6821671 6821671 + Silent SNP C C A TCGA-RW-A68C-01A-11D-A35D-08 TCGA-RW-A68C-10A-01D-A35B-08 g.chr19:6821671C>A c.360C>A c.(358-360)atC>atA p.I120I PCPG 19 6833230 6833230 + Missense_Mutation SNP G G A TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 g.chr19:6833230G>A c.1544G>A c.(1543-1545)gGg>gAg p.G515E PRAD 19 6772975 6772975 + Missense_Mutation SNP C C A TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 g.chr19:6772975C>A c.157C>A c.(157-159)Cat>Aat p.H53N PRAD 19 6822285 6822285 + Missense_Mutation SNP C C T TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 g.chr19:6822285C>T c.503C>T c.(502-504)gCg>gTg p.A168V PRAD 19 6822295 6822295 + Missense_Mutation SNP C C G TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 g.chr19:6822295C>G c.513C>G c.(511-513)gaC>gaG p.D171E PRAD 19 6850726 6850726 + Silent SNP A A C TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 g.chr19:6850726A>C c.2175A>C c.(2173-2175)ggA>ggC p.G725G PRAD 19 6854100 6854100 + Silent SNP C C A TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 g.chr19:6854100C>A c.2475C>A c.(2473-2475)atC>atA p.I825I READ 19 6829846 6829846 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr19:6829846G>T c.1315G>T c.(1315-1317)Gac>Tac p.D439Y READ 19 6857081 6857081 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr19:6857081C>A c.2501C>A c.(2500-2502)gCc>gAc p.A834D SARC 19 6773005 6773005 + Missense_Mutation SNP C C T TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 g.chr19:6773005C>T c.187C>T c.(187-189)Cgc>Tgc p.R63C SARC 19 6833926 6833926 + Missense_Mutation SNP T T A TCGA-DX-A8BH-01A-11D-A37C-09 TCGA-DX-A8BH-11A-43D-A37F-09 g.chr19:6833926T>A c.1739T>A c.(1738-1740)cTa>cAa p.L580Q SARC 19 6850689 6850689 + Missense_Mutation SNP T T G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr19:6850689T>G c.2138T>G c.(2137-2139)gTc>gGc p.V713G SKCM 19 6772975 6772975 + Missense_Mutation SNP C C T TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr19:6772975C>T c.157C>T c.(157-159)Cat>Tat p.H53Y SKCM 19 6820742 6820742 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 g.chr19:6820742C>T c.234C>T c.(232-234)ttC>ttT p.F78F SKCM 19 6820742 6820742 + Silent SNP C C T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr19:6820742C>T c.234C>T c.(232-234)ttC>ttT p.F78F SKCM 19 6820742 6820742 + Silent SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr19:6820742C>T c.234C>T c.(232-234)ttC>ttT p.F78F SKCM 19 6820766 6820766 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr19:6820766C>T c.258C>T c.(256-258)ttC>ttT p.F86F SKCM 19 6820787 6820787 + Silent SNP C C T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 g.chr19:6820787C>T c.279C>T c.(277-279)ctC>ctT p.L93L SKCM 19 6820818 6820818 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr19:6820818G>A c.310G>A c.(310-312)Gat>Aat p.D104N SKCM 19 6821681 6821681 + Silent SNP A A C TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr19:6821681A>C c.370A>C c.(370-372)Agg>Cgg p.R124R SKCM 19 6821684 6821684 + Missense_Mutation SNP G G A TCGA-ER-A2NF-06A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 g.chr19:6821684G>A c.373G>A c.(373-375)Ggg>Agg p.G125R SKCM 19 6821821 6821821 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 g.chr19:6821821G>A c.400G>A c.(400-402)Gag>Aag p.E134K SKCM 19 6821869 6821869 + Splice_Site SNP G G A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr19:6821869G>A c.448G>A c.(448-450)Gac>Aac p.D150N SKCM 19 6822341 6822341 + Splice_Site SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr19:6822341G>A c.e5+1 SKCM 19 6825082 6825082 + Missense_Mutation SNP C C G TCGA-EE-A2GT-06A-12D-A197-08 TCGA-EE-A2GT-10A-01D-A199-08 g.chr19:6825082C>G c.673C>G c.(673-675)Caa>Gaa p.Q225E SKCM 19 6825340 6825340 + Silent SNP C C T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr19:6825340C>T c.750C>T c.(748-750)ttC>ttT p.F250F SKCM 19 6825346 6825346 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 g.chr19:6825346G>A c.756G>A c.(754-756)aaG>aaA p.K252K SKCM 19 6825388 6825388 + Silent SNP C C T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr19:6825388C>T c.798C>T c.(796-798)ctC>ctT p.L266L SKCM 19 6825394 6825394 + Silent SNP G G A TCGA-D9-A6EG-06A-12D-A32N-08 TCGA-D9-A6EG-10A-01D-A32N-08 g.chr19:6825394G>A c.804G>A c.(802-804)caG>caA p.Q268Q SKCM 19 6828173 6828173 + Silent SNP C C T TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr19:6828173C>T c.1014C>T c.(1012-1014)ctC>ctT p.L338L SKCM 19 6828176 6828176 + Silent SNP T T C TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr19:6828176T>C c.1017T>C c.(1015-1017)ctT>ctC p.L339L SKCM 19 6828179 6828179 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr19:6828179C>T c.1020C>T c.(1018-1020)ctC>ctT p.L340L SKCM 19 6828654 6828654 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr19:6828654G>A c.1114G>A c.(1114-1116)Gag>Aag p.E372K SKCM 19 6828894 6828894 + Silent SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr19:6828894G>A c.1248G>A c.(1246-1248)cgG>cgA p.R416R SKCM 19 6832117 6832117 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:6832117C>T c.1414C>T c.(1414-1416)Ctc>Ttc p.L472F SKCM 19 6832125 6832125 + Silent SNP C C T TCGA-EE-A29Q-06A-11D-A197-08 TCGA-EE-A29Q-10A-01D-A199-08 g.chr19:6832125C>T c.1422C>T c.(1420-1422)atC>atT p.I474I SKCM 19 6832146 6832146 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:6832146C>T c.1443C>T c.(1441-1443)ggC>ggT p.G481G SKCM 19 6833197 6833197 + Missense_Mutation SNP C C T TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr19:6833197C>T c.1511C>T c.(1510-1512)tCc>tTc p.S504F SKCM 19 6833264 6833264 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:6833264C>T c.1578C>T c.(1576-1578)acC>acT p.T526T SKCM 19 6833594 6833594 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr19:6833594G>A c.1666G>A c.(1666-1668)Gag>Aag p.E556K SKCM 19 6833630 6833630 + Missense_Mutation SNP G G A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 g.chr19:6833630G>A c.1702G>A c.(1702-1704)Ggg>Agg p.G568R SKCM 19 6833726 6833726 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr19:6833726C>T c.1713C>T c.(1711-1713)ttC>ttT p.F571F SKCM 19 6833918 6833918 + Splice_Site SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:6833918G>A c.e19-1 SKCM 19 6833919 6833919 + Splice_Site SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:6833919G>A c.1732G>A c.(1732-1734)Gac>Aac p.D578N SKCM 19 6836570 6836570 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr19:6836570C>T c.1905C>T c.(1903-1905)aaC>aaT p.N635N SKCM 19 6848067 6848067 + Missense_Mutation SNP G G A TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr19:6848067G>A c.2071G>A c.(2071-2073)Ggg>Agg p.G691R SKCM 19 6853061 6853061 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr19:6853061C>T c.2303C>T c.(2302-2304)cCt>cTt p.P768L SKCM 19 6853068 6853068 + Silent SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr19:6853068G>A c.2310G>A c.(2308-2310)aaG>aaA p.K770K SKCM 19 6854012 6854012 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 g.chr19:6854012G>A c.2387G>A c.(2386-2388)cGa>cAa p.R796Q SKCM 19 6854016 6854016 + Silent SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 g.chr19:6854016C>T c.2391C>T c.(2389-2391)gaC>gaT p.D797D SKCM 19 6854071 6854071 + Missense_Mutation SNP G G A TCGA-FS-A4FD-06A-11D-A25O-08 TCGA-FS-A4FD-10B-01D-A25O-08 g.chr19:6854071G>A c.2446G>A c.(2446-2448)Gga>Aga p.G816R SKCM 19 6854093 6854093 + Missense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr19:6854093G>A c.2468G>A c.(2467-2469)gGg>gAg p.G823E SKCM 19 6854108 6854108 + Splice_Site SNP G G T TCGA-D3-A1Q5-06A-11D-A196-08 TCGA-D3-A1Q5-10A-01D-A198-08 g.chr19:6854108G>T c.2483G>T c.(2482-2484)cGg>cTg p.R828L

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 6853959 6853959 single base substitution G T splice_region_variant BLCA-US 19 6828657 6828657 single base substitution G T downstream_gene_variant BLCA-US 19 6828657 6828657 single base substitution G T exon_variant BLCA-US 19 6828657 6828657 single base substitution G T missense_variant V276F 826G>T BLCA-US 19 6828657 6828657 single base substitution G T missense_variant V318F 952G>T BLCA-US 19 6828657 6828657 single base substitution G T missense_variant V341F 1021G>T BLCA-US 19 6828657 6828657 single base substitution G T missense_variant V373F 1117G>T BLCA-US 19 6829860 6829860 single base substitution C T downstream_gene_variant BLCA-US 19 6829860 6829860 single base substitution C T exon_variant BLCA-US 19 6829860 6829860 single base substitution C T intron_variant BLCA-US 19 6829860 6829860 single base substitution C T synonymous_variant L346L 1038C>T BLCA-US 19 6829860 6829860 single base substitution C T synonymous_variant L388L 1164C>T BLCA-US 19 6829860 6829860 single base substitution C T synonymous_variant L411L 1233C>T BLCA-US 19 6829860 6829860 single base substitution C T synonymous_variant L443L 1329C>T BLCA-US 19 6836572 6836572 single base substitution G A downstream_gene_variant BLCA-US 19 6836572 6836572 single base substitution G A exon_variant BLCA-US 19 6836572 6836572 single base substitution G A stop_gained W539* 1616G>A BLCA-US 19 6836572 6836572 single base substitution G A stop_gained W581* 1742G>A BLCA-US 19 6836572 6836572 single base substitution G A stop_gained W604* 1811G>A BLCA-US 19 6836572 6836572 single base substitution G A stop_gained W636* 1907G>A BRCA-EU 19 6768295 6768295 single base substitution C A upstream_gene_variant BRCA-EU 19 6769091 6769091 single base substitution C T upstream_gene_variant BRCA-EU 19 6769910 6769910 single base substitution G A upstream_gene_variant BRCA-EU 19 6770186 6770186 single base substitution C A upstream_gene_variant BRCA-EU 19 6771452 6771452 single base substitution C T upstream_gene_variant BRCA-EU 19 6771615 6771615 single base substitution C T upstream_gene_variant BRCA-EU 19 6771644 6771644 single base substitution T A upstream_gene_variant BRCA-EU 19 6772167 6772167 single base substitution G A upstream_gene_variant BRCA-EU 19 6772320 6772320 single base substitution C T upstream_gene_variant BRCA-EU 19 6772854 6772854 single base substitution C A synonymous_variant I12I 36C>A BRCA-EU 19 6772854 6772854 single base substitution C A upstream_gene_variant BRCA-EU 19 6773332 6773332 single base substitution G A intron_variant BRCA-EU 19 6773859 6773859 single base substitution G A intron_variant BRCA-EU 19 6773860 6773860 single base substitution C A intron_variant BRCA-EU 19 6773938 6773938 single base substitution C A intron_variant BRCA-EU 19 6775025 6775025 single base substitution C A intron_variant BRCA-EU 19 6775484 6775484 single base substitution C G intron_variant BRCA-EU 19 6777842 6777842 single base substitution C T intron_variant BRCA-EU 19 6777966 6777966 single base substitution C A intron_variant BRCA-EU 19 6778364 6778364 single base substitution T A intron_variant BRCA-EU 19 6779155 6779155 single base substitution T C intron_variant BRCA-EU 19 6779155 6779155 single base substitution T C upstream_gene_variant BRCA-EU 19 6779187 6779187 single base substitution T C intron_variant BRCA-EU 19 6779187 6779187 single base substitution T C upstream_gene_variant BRCA-EU 19 6779478 6779478 single base substitution G T intron_variant BRCA-EU 19 6779478 6779478 single base substitution G T upstream_gene_variant BRCA-EU 19 6782003 6782003 single base substitution C T intron_variant BRCA-EU 19 6782003 6782003 single base substitution C T upstream_gene_variant BRCA-EU 19 6782335 6782335 single base substitution C T intron_variant BRCA-EU 19 6782335 6782335 single base substitution C T upstream_gene_variant BRCA-EU 19 6782930 6782930 single base substitution C T intron_variant BRCA-EU 19 6782930 6782930 single base substitution C T upstream_gene_variant BRCA-EU 19 6783024 6783024 single base substitution C G intron_variant BRCA-EU 19 6783024 6783024 single base substitution C G upstream_gene_variant BRCA-EU 19 6784036 6784036 single base substitution A T intron_variant BRCA-EU 19 6784036 6784036 single base substitution A T upstream_gene_variant BRCA-EU 19 6784576 6784576 single base substitution C G intron_variant BRCA-EU 19 6784954 6784954 single base substitution A G intron_variant BRCA-EU 19 6786228 6786228 single base substitution C T intron_variant BRCA-EU 19 6786340 6786340 single base substitution G A intron_variant BRCA-EU 19 6787757 6787757 single base substitution C T intron_variant BRCA-EU 19 6787907 6787907 single base substitution G T intron_variant BRCA-EU 19 6789363 6789363 single base substitution A G intron_variant BRCA-EU 19 6790081 6790081 single base substitution C T intron_variant BRCA-EU 19 6791260 6791260 single base substitution C T intron_variant BRCA-EU 19 6791288 6791288 single base substitution G A intron_variant BRCA-EU 19 6793001 6793001 single base substitution T A intron_variant BRCA-EU 19 6793073 6793073 single base substitution C T intron_variant BRCA-EU 19 6793798 6793798 single base substitution C T intron_variant BRCA-EU 19 6794040 6794040 single base substitution A C intron_variant BRCA-EU 19 6794902 6794902 single base substitution G C intron_variant BRCA-EU 19 6795237 6795237 single base substitution G C intron_variant BRCA-EU 19 6795461 6795461 single base substitution T C intron_variant BRCA-EU 19 6796049 6796049 single base substitution G T intron_variant BRCA-EU 19 6800770 6800770 single base substitution T C intron_variant BRCA-EU 19 6801178 6801178 single base substitution T G intron_variant BRCA-EU 19 6801870 6801870 single base substitution G A intron_variant BRCA-EU 19 6802219 6802219 single base substitution G C intron_variant BRCA-EU 19 6802735 6802735 single base substitution G C intron_variant BRCA-EU 19 6802792 6802792 single base substitution C A intron_variant BRCA-EU 19 6803332 6803332 single base substitution G A intron_variant BRCA-EU 19 6803644 6803644 single base substitution C T intron_variant BRCA-EU 19 6805202 6805202 single base substitution G A intron_variant BRCA-EU 19 6806632 6806632 single base substitution G A intron_variant BRCA-EU 19 6807059 6807059 single base substitution G T intron_variant BRCA-EU 19 6808580 6808580 single base substitution C T intron_variant BRCA-EU 19 6808858 6808858 single base substitution C T intron_variant BRCA-EU 19 6808903 6808903 single base substitution A G intron_variant BRCA-EU 19 6809021 6809021 single base substitution T G intron_variant BRCA-EU 19 6810282 6810282 single base substitution C G intron_variant BRCA-EU 19 6810663 6810663 single base substitution C T intron_variant BRCA-EU 19 6810699 6810699 single base substitution A G intron_variant BRCA-EU 19 6811544 6811544 single base substitution T A intron_variant BRCA-EU 19 6813073 6813073 single base substitution C T intron_variant BRCA-EU 19 6813913 6813913 deletion of <=200bp A - intron_variant BRCA-EU 19 6814512 6814512 single base substitution C G intron_variant BRCA-EU 19 6814955 6814955 single base substitution G C intron_variant BRCA-EU 19 6816282 6816282 single base substitution C T intron_variant BRCA-EU 19 6816298 6816298 single base substitution T G intron_variant BRCA-EU 19 6817132 6817132 single base substitution T A intron_variant BRCA-EU 19 6817226 6817226 deletion of <=200bp T - intron_variant BRCA-EU 19 6817326 6817326 single base substitution C A intron_variant BRCA-EU 19 6817683 6817683 single base substitution A G intron_variant BRCA-EU 19 6817683 6817683 single base substitution A G upstream_gene_variant BRCA-EU 19 6817814 6817814 single base substitution C A intron_variant BRCA-EU 19 6817814 6817814 single base substitution C A upstream_gene_variant BRCA-EU 19 6819312 6819312 deletion of <=200bp A - intron_variant BRCA-EU 19 6819312 6819312 deletion of <=200bp A - upstream_gene_variant BRCA-EU 19 6820127 6820127 single base substitution C G intron_variant BRCA-EU 19 6820127 6820127 single base substitution C G upstream_gene_variant BRCA-EU 19 6820157 6820157 single base substitution T C intron_variant BRCA-EU 19 6820157 6820157 single base substitution T C upstream_gene_variant BRCA-EU 19 6820363 6820363 single base substitution C T intron_variant BRCA-EU 19 6820363 6820363 single base substitution C T upstream_gene_variant BRCA-EU 19 6820699 6820699 single base substitution C G intron_variant BRCA-EU 19 6820699 6820699 single base substitution C G upstream_gene_variant BRCA-EU 19 6820708 6820708 single base substitution C T splice_region_variant BRCA-EU 19 6820708 6820708 single base substitution C T upstream_gene_variant BRCA-EU 19 6821399 6821399 single base substitution G T intron_variant BRCA-EU 19 6821399 6821399 single base substitution G T upstream_gene_variant BRCA-EU 19 6821639 6821639 single base substitution T C missense_variant Y110H 328T>C BRCA-EU 19 6821639 6821639 single base substitution T C missense_variant Y45H 133T>C BRCA-EU 19 6821639 6821639 single base substitution T C missense_variant Y55H 163T>C BRCA-EU 19 6821639 6821639 single base substitution T C upstream_gene_variant BRCA-EU 19 6825165 6825165 deletion of <=200bp T - intron_variant BRCA-EU 19 6825165 6825165 deletion of <=200bp T - upstream_gene_variant BRCA-EU 19 6825228 6825228 single base substitution G A intron_variant BRCA-EU 19 6825228 6825228 single base substitution G A upstream_gene_variant BRCA-EU 19 6825802 6825802 single base substitution G C intron_variant BRCA-EU 19 6825802 6825802 single base substitution G C upstream_gene_variant BRCA-EU 19 6827078 6827078 single base substitution C T exon_variant BRCA-EU 19 6827078 6827078 single base substitution C T intron_variant BRCA-EU 19 6827078 6827078 single base substitution C T upstream_gene_variant BRCA-EU 19 6827600 6827603 deletion of <=200bp TTTG - downstream_gene_variant BRCA-EU 19 6827600 6827603 deletion of <=200bp TTTG - intron_variant BRCA-EU 19 6827600 6827603 deletion of <=200bp TTTG - upstream_gene_variant BRCA-EU 19 6827862 6827862 single base substitution C T downstream_gene_variant BRCA-EU 19 6827862 6827862 single base substitution C T intron_variant BRCA-EU 19 6827862 6827862 single base substitution C T upstream_gene_variant BRCA-EU 19 6827981 6827981 single base substitution G C downstream_gene_variant BRCA-EU 19 6827981 6827981 single base substitution G C intron_variant BRCA-EU 19 6827981 6827981 single base substitution G C upstream_gene_variant BRCA-EU 19 6828892 6828892 single base substitution C T downstream_gene_variant BRCA-EU 19 6828892 6828892 single base substitution C T exon_variant BRCA-EU 19 6828892 6828892 single base substitution C T missense_variant R319W 955C>T BRCA-EU 19 6828892 6828892 single base substitution C T missense_variant R361W 1081C>T BRCA-EU 19 6828892 6828892 single base substitution C T missense_variant R384W 1150C>T BRCA-EU 19 6828892 6828892 single base substitution C T missense_variant R416W 1246C>T BRCA-EU 19 6830647 6830647 single base substitution C T downstream_gene_variant BRCA-EU 19 6830647 6830647 single base substitution C T intron_variant BRCA-EU 19 6830710 6830710 single base substitution C G downstream_gene_variant BRCA-EU 19 6830710 6830710 single base substitution C G intron_variant BRCA-EU 19 6830731 6830731 single base substitution G A downstream_gene_variant BRCA-EU 19 6830731 6830731 single base substitution G A intron_variant BRCA-EU 19 6831793 6831793 single base substitution C A downstream_gene_variant BRCA-EU 19 6831793 6831793 single base substitution C A intron_variant BRCA-EU 19 6831793 6831793 single base substitution C A upstream_gene_variant BRCA-EU 19 6832811 6832811 single base substitution A G downstream_gene_variant BRCA-EU 19 6832811 6832811 single base substitution A G intron_variant BRCA-EU 19 6832811 6832811 single base substitution A G upstream_gene_variant BRCA-EU 19 6833534 6833534 single base substitution C T downstream_gene_variant BRCA-EU 19 6833534 6833534 single base substitution C T intron_variant BRCA-EU 19 6833534 6833534 single base substitution C T splice_region_variant BRCA-EU 19 6833534 6833534 single base substitution C T upstream_gene_variant BRCA-EU 19 6833561 6833561 single base substitution C T downstream_gene_variant BRCA-EU 19 6833561 6833561 single base substitution C T exon_variant BRCA-EU 19 6833561 6833561 single base substitution C T missense_variant R448C 1342C>T BRCA-EU 19 6833561 6833561 single base substitution C T missense_variant R490C 1468C>T BRCA-EU 19 6833561 6833561 single base substitution C T missense_variant R513C 1537C>T BRCA-EU 19 6833561 6833561 single base substitution C T missense_variant R545C 1633C>T BRCA-EU 19 6833561 6833561 single base substitution C T upstream_gene_variant BRCA-EU 19 6834069 6834069 single base substitution C T downstream_gene_variant BRCA-EU 19 6834069 6834069 single base substitution C T intron_variant BRCA-EU 19 6834069 6834069 single base substitution C T upstream_gene_variant BRCA-EU 19 6834176 6834176 single base substitution A T downstream_gene_variant BRCA-EU 19 6834176 6834176 single base substitution A T intron_variant BRCA-EU 19 6834176 6834176 single base substitution A T upstream_gene_variant BRCA-EU 19 6834728 6834728 insertion of <=200bp - T downstream_gene_variant BRCA-EU 19 6834728 6834728 insertion of <=200bp - T intron_variant BRCA-EU 19 6834728 6834728 insertion of <=200bp - T upstream_gene_variant BRCA-EU 19 6834782 6834782 single base substitution A T downstream_gene_variant BRCA-EU 19 6834782 6834782 single base substitution A T intron_variant BRCA-EU 19 6834782 6834782 single base substitution A T upstream_gene_variant BRCA-EU 19 6835711 6835711 single base substitution T G downstream_gene_variant BRCA-EU 19 6835711 6835711 single base substitution T G intron_variant BRCA-EU 19 6835711 6835711 single base substitution T G upstream_gene_variant BRCA-EU 19 6836076 6836076 single base substitution G A downstream_gene_variant BRCA-EU 19 6836076 6836076 single base substitution G A exon_variant BRCA-EU 19 6836076 6836076 single base substitution G A intron_variant BRCA-EU 19 6837147 6837147 single base substitution G A downstream_gene_variant BRCA-EU 19 6837147 6837147 single base substitution G A intron_variant BRCA-EU 19 6838998 6838998 single base substitution C G downstream_gene_variant BRCA-EU 19 6838998 6838998 single base substitution C G intron_variant BRCA-EU 19 6839422 6839422 single base substitution C T downstream_gene_variant BRCA-EU 19 6839422 6839422 single base substitution C T intron_variant BRCA-EU 19 6840808 6840808 single base substitution G C downstream_gene_variant BRCA-EU 19 6840808 6840808 single base substitution G C intron_variant BRCA-EU 19 6841715 6841715 single base substitution G A downstream_gene_variant BRCA-EU 19 6841715 6841715 single base substitution G A intron_variant BRCA-EU 19 6842059 6842059 single base substitution G T intron_variant BRCA-EU 19 6842453 6842453 single base substitution G T intron_variant BRCA-EU 19 6842899 6842899 single base substitution C T intron_variant BRCA-EU 19 6844643 6844643 single base substitution G A intron_variant BRCA-EU 19 6846500 6846500 single base substitution G A intron_variant BRCA-EU 19 6846571 6846571 deletion of <=200bp A - intron_variant BRCA-EU 19 6847373 6847373 single base substitution T A intron_variant BRCA-EU 19 6847710 6847710 single base substitution C G intron_variant BRCA-EU 19 6849141 6849141 single base substitution G A intron_variant BRCA-EU 19 6849175 6849175 single base substitution C G intron_variant BRCA-EU 19 6851782 6851782 single base substitution G C intron_variant BRCA-EU 19 6851793 6851793 single base substitution T A intron_variant BRCA-EU 19 6851905 6851905 single base substitution T G intron_variant BRCA-EU 19 6852556 6852556 single base substitution C A intron_variant BRCA-EU 19 6853307 6853307 single base substitution C G intron_variant BRCA-EU 19 6853596 6853596 single base substitution G A intron_variant BRCA-EU 19 6853700 6853700 single base substitution C T intron_variant BRCA-EU 19 6853718 6853718 single base substitution G T intron_variant BRCA-EU 19 6854647 6854647 single base substitution G T intron_variant BRCA-EU 19 6855656 6855659 deletion of <=200bp ATCT - intron_variant BRCA-EU 19 6857522 6857522 single base substitution C T downstream_gene_variant BRCA-EU 19 6859033 6859033 single base substitution C T downstream_gene_variant BRCA-EU 19 6859148 6859148 single base substitution C T downstream_gene_variant BRCA-EU 19 6860500 6860500 single base substitution G C downstream_gene_variant BRCA-EU 19 6861506 6861506 single base substitution T G downstream_gene_variant BRCA-EU 19 6861793 6861793 single base substitution C A downstream_gene_variant BRCA-FR 19 6769091 6769091 single base substitution C T upstream_gene_variant BRCA-FR 19 6770186 6770186 single base substitution C A upstream_gene_variant BRCA-FR 19 6772167 6772167 single base substitution G A upstream_gene_variant BRCA-FR 19 6788547 6788547 single base substitution C T intron_variant BRCA-FR 19 6793786 6793786 single base substitution C T intron_variant BRCA-FR 19 6796049 6796049 single base substitution G T intron_variant BRCA-FR 19 6796616 6796616 single base substitution C T intron_variant BRCA-FR 19 6804203 6804203 single base substitution G A intron_variant BRCA-FR 19 6805078 6805078 single base substitution A C intron_variant BRCA-FR 19 6812084 6812084 single base substitution A T intron_variant BRCA-FR 19 6814955 6814955 single base substitution G C intron_variant BRCA-FR 19 6815296 6815296 single base substitution C T intron_variant BRCA-FR 19 6817814 6817814 single base substitution C A intron_variant BRCA-FR 19 6817814 6817814 single base substitution C A upstream_gene_variant BRCA-FR 19 6820127 6820127 single base substitution C G intron_variant BRCA-FR 19 6820127 6820127 single base substitution C G upstream_gene_variant BRCA-FR 19 6820363 6820363 single base substitution C T intron_variant BRCA-FR 19 6820363 6820363 single base substitution C T upstream_gene_variant BRCA-FR 19 6821399 6821399 single base substitution G T intron_variant BRCA-FR 19 6821399 6821399 single base substitution G T upstream_gene_variant BRCA-FR 19 6825228 6825228 single base substitution G A intron_variant BRCA-FR 19 6825228 6825228 single base substitution G A upstream_gene_variant BRCA-FR 19 6827862 6827862 single base substitution C T downstream_gene_variant BRCA-FR 19 6827862 6827862 single base substitution C T intron_variant BRCA-FR 19 6827862 6827862 single base substitution C T upstream_gene_variant BRCA-FR 19 6830647 6830647 single base substitution C T downstream_gene_variant BRCA-FR 19 6830647 6830647 single base substitution C T intron_variant BRCA-FR 19 6831840 6831840 single base substitution C G downstream_gene_variant BRCA-FR 19 6831840 6831840 single base substitution C G intron_variant BRCA-FR 19 6831840 6831840 single base substitution C G upstream_gene_variant BRCA-FR 19 6838998 6838998 single base substitution C G downstream_gene_variant BRCA-FR 19 6838998 6838998 single base substitution C G intron_variant BRCA-FR 19 6844069 6844069 single base substitution T G intron_variant BRCA-FR 19 6849175 6849175 single base substitution C G intron_variant BRCA-UK 19 6775025 6775025 single base substitution C A intron_variant BRCA-UK 19 6782335 6782335 single base substitution C T intron_variant BRCA-UK 19 6782335 6782335 single base substitution C T upstream_gene_variant BRCA-UK 19 6793073 6793073 single base substitution C T intron_variant BRCA-UK 19 6859148 6859148 single base substitution C T downstream_gene_variant BRCA-US 19 6826674 6826674 single base substitution C G exon_variant BRCA-US 19 6826674 6826674 single base substitution C G missense_variant H196Q 588C>G BRCA-US 19 6826674 6826674 single base substitution C G missense_variant H238Q 714C>G BRCA-US 19 6826674 6826674 single base substitution C G missense_variant H261Q 783C>G BRCA-US 19 6826674 6826674 single base substitution C G missense_variant H293Q 879C>G BRCA-US 19 6826674 6826674 single base substitution C G upstream_gene_variant BRCA-US 19 6828862 6828862 single base substitution G A downstream_gene_variant BRCA-US 19 6828862 6828862 single base substitution G A exon_variant BRCA-US 19 6828862 6828862 single base substitution G A missense_variant D309N 925G>A BRCA-US 19 6828862 6828862 single base substitution G A missense_variant D351N 1051G>A BRCA-US 19 6828862 6828862 single base substitution G A missense_variant D374N 1120G>A BRCA-US 19 6828862 6828862 single base substitution G A missense_variant D406N 1216G>A BRCA-US 19 6828887 6828887 single base substitution T G downstream_gene_variant BRCA-US 19 6828887 6828887 single base substitution T G exon_variant BRCA-US 19 6828887 6828887 single base substitution T G missense_variant V317G 950T>G BRCA-US 19 6828887 6828887 single base substitution T G missense_variant V359G 1076T>G BRCA-US 19 6828887 6828887 single base substitution T G missense_variant V382G 1145T>G BRCA-US 19 6828887 6828887 single base substitution T G missense_variant V414G 1241T>G BRCA-US 19 6833624 6833624 single base substitution C T downstream_gene_variant BRCA-US 19 6833624 6833624 single base substitution C T exon_variant BRCA-US 19 6833624 6833624 single base substitution C T stop_gained R469* 1405C>T BRCA-US 19 6833624 6833624 single base substitution C T stop_gained R511* 1531C>T BRCA-US 19 6833624 6833624 single base substitution C T stop_gained R534* 1600C>T BRCA-US 19 6833624 6833624 single base substitution C T stop_gained R566* 1696C>T BRCA-US 19 6833624 6833624 single base substitution C T upstream_gene_variant BRCA-US 19 6833625 6833625 single base substitution G A downstream_gene_variant BRCA-US 19 6833625 6833625 single base substitution G A exon_variant BRCA-US 19 6833625 6833625 single base substitution G A missense_variant R469Q 1406G>A BRCA-US 19 6833625 6833625 single base substitution G A missense_variant R511Q 1532G>A BRCA-US 19 6833625 6833625 single base substitution G A missense_variant R534Q 1601G>A BRCA-US 19 6833625 6833625 single base substitution G A missense_variant R566Q 1697G>A BRCA-US 19 6833625 6833625 single base substitution G A upstream_gene_variant BRCA-US 19 6850694 6850694 single base substitution G A missense_variant V618I 1852G>A BRCA-US 19 6850694 6850694 single base substitution G A missense_variant V660I 1978G>A BRCA-US 19 6850694 6850694 single base substitution G A missense_variant V683I 2047G>A BRCA-US 19 6850694 6850694 single base substitution G A missense_variant V693I 2077G>A BRCA-US 19 6850694 6850694 single base substitution G A missense_variant V715I 2143G>A BTCA-JP 19 6821869 6821869 single base substitution G A missense_variant D150N 448G>A BTCA-JP 19 6821869 6821869 single base substitution G A missense_variant D85N 253G>A BTCA-JP 19 6821869 6821869 single base substitution G A missense_variant D95N 283G>A BTCA-JP 19 6821869 6821869 single base substitution G A upstream_gene_variant BTCA-JP 19 6828159 6828159 single base substitution C T downstream_gene_variant BTCA-JP 19 6828159 6828159 single base substitution C T missense_variant L237F 709C>T BTCA-JP 19 6828159 6828159 single base substitution C T missense_variant L279F 835C>T BTCA-JP 19 6828159 6828159 single base substitution C T missense_variant L302F 904C>T BTCA-JP 19 6828159 6828159 single base substitution C T missense_variant L334F 1000C>T BTCA-JP 19 6828159 6828159 single base substitution C T upstream_gene_variant BTCA-JP 19 6828241 6828241 single base substitution G T downstream_gene_variant BTCA-JP 19 6828241 6828241 single base substitution G T intron_variant BTCA-JP 19 6828241 6828241 single base substitution G T upstream_gene_variant BTCA-JP 19 6828393 6828393 single base substitution G A downstream_gene_variant BTCA-JP 19 6828393 6828393 single base substitution G A exon_variant BTCA-JP 19 6828393 6828393 single base substitution G A intron_variant BTCA-JP 19 6828393 6828393 single base substitution G A upstream_gene_variant BTCA-JP 19 6828647 6828647 single base substitution C T downstream_gene_variant BTCA-JP 19 6828647 6828647 single base substitution C T exon_variant BTCA-JP 19 6828647 6828647 single base substitution C T synonymous_variant C272C 816C>T BTCA-JP 19 6828647 6828647 single base substitution C T synonymous_variant C314C 942C>T BTCA-JP 19 6828647 6828647 single base substitution C T synonymous_variant C337C 1011C>T BTCA-JP 19 6828647 6828647 single base substitution C T synonymous_variant C369C 1107C>T BTCA-JP 19 6833228 6833228 single base substitution C T downstream_gene_variant BTCA-JP 19 6833228 6833228 single base substitution C T exon_variant BTCA-JP 19 6833228 6833228 single base substitution C T synonymous_variant N417N 1251C>T BTCA-JP 19 6833228 6833228 single base substitution C T synonymous_variant N459N 1377C>T BTCA-JP 19 6833228 6833228 single base substitution C T synonymous_variant N482N 1446C>T BTCA-JP 19 6833228 6833228 single base substitution C T synonymous_variant N514N 1542C>T BTCA-JP 19 6833228 6833228 single base substitution C T upstream_gene_variant BTCA-JP 19 6833706 6833706 single base substitution C T downstream_gene_variant BTCA-JP 19 6833706 6833706 single base substitution C T intron_variant BTCA-JP 19 6833706 6833706 single base substitution C T upstream_gene_variant BTCA-JP 19 6843276 6843276 single base substitution C G intron_variant BTCA-JP 19 6848139 6848139 single base substitution C G intron_variant BTCA-JP 19 6848220 6848220 single base substitution G A intron_variant BTCA-JP 19 6857186 6857186 single base substitution C T 3_prime_UTR_variant BTCA-JP 19 6857186 6857186 single base substitution C T downstream_gene_variant CESC-US 19 6821677 6821677 single base substitution G C missense_variant Q122H 366G>C CESC-US 19 6821677 6821677 single base substitution G C missense_variant Q57H 171G>C CESC-US 19 6821677 6821677 single base substitution G C missense_variant Q67H 201G>C CESC-US 19 6821677 6821677 single base substitution G C upstream_gene_variant CESC-US 19 6828096 6828096 single base substitution C T downstream_gene_variant CESC-US 19 6828096 6828096 single base substitution C T stop_gained Q216* 646C>T CESC-US 19 6828096 6828096 single base substitution C T stop_gained Q258* 772C>T CESC-US 19 6828096 6828096 single base substitution C T stop_gained Q281* 841C>T CESC-US 19 6828096 6828096 single base substitution C T stop_gained Q313* 937C>T CESC-US 19 6828096 6828096 single base substitution C T upstream_gene_variant CESC-US 19 6828465 6828465 single base substitution G A downstream_gene_variant CESC-US 19 6828465 6828465 single base substitution G A exon_variant CESC-US 19 6828465 6828465 single base substitution G A synonymous_variant K256K 768G>A CESC-US 19 6828465 6828465 single base substitution G A synonymous_variant K298K 894G>A CESC-US 19 6828465 6828465 single base substitution G A synonymous_variant K321K 963G>A CESC-US 19 6828465 6828465 single base substitution G A synonymous_variant K353K 1059G>A CESC-US 19 6828465 6828465 single base substitution G A upstream_gene_variant CLLE-ES 19 6807869 6807869 single base substitution G C intron_variant CLLE-ES 19 6833624 6833624 single base substitution C T downstream_gene_variant CLLE-ES 19 6833624 6833624 single base substitution C T exon_variant CLLE-ES 19 6833624 6833624 single base substitution C T stop_gained R469* 1405C>T CLLE-ES 19 6833624 6833624 single base substitution C T stop_gained R511* 1531C>T CLLE-ES 19 6833624 6833624 single base substitution C T stop_gained R534* 1600C>T CLLE-ES 19 6833624 6833624 single base substitution C T stop_gained R566* 1696C>T CLLE-ES 19 6833624 6833624 single base substitution C T upstream_gene_variant CLLE-ES 19 6837264 6837264 single base substitution C T downstream_gene_variant CLLE-ES 19 6837264 6837264 single base substitution C T intron_variant COAD-US 19 6820770 6820770 single base substitution C T missense_variant L23F 67C>T COAD-US 19 6820770 6820770 single base substitution C T missense_variant L33F 97C>T COAD-US 19 6820770 6820770 single base substitution C T missense_variant L88F 262C>T COAD-US 19 6820770 6820770 single base substitution C T upstream_gene_variant COAD-US 19 6821672 6821672 single base substitution G A missense_variant A121T 361G>A COAD-US 19 6821672 6821672 single base substitution G A missense_variant A56T 166G>A COAD-US 19 6821672 6821672 single base substitution G A missense_variant A66T 196G>A COAD-US 19 6821672 6821672 single base substitution G A upstream_gene_variant COAD-US 19 6822286 6822286 single base substitution G A synonymous_variant A103A 309G>A COAD-US 19 6822286 6822286 single base substitution G A synonymous_variant A113A 339G>A COAD-US 19 6822286 6822286 single base substitution G A synonymous_variant A168A 504G>A COAD-US 19 6822286 6822286 single base substitution G A upstream_gene_variant COAD-US 19 6822292 6822292 single base substitution C T synonymous_variant G105G 315C>T COAD-US 19 6822292 6822292 single base substitution C T synonymous_variant G115G 345C>T COAD-US 19 6822292 6822292 single base substitution C T synonymous_variant G170G 510C>T COAD-US 19 6822292 6822292 single base substitution C T upstream_gene_variant COAD-US 19 6822322 6822322 single base substitution G A synonymous_variant S115S 345G>A COAD-US 19 6822322 6822322 single base substitution G A synonymous_variant S125S 375G>A COAD-US 19 6822322 6822322 single base substitution G A synonymous_variant S180S 540G>A COAD-US 19 6822322 6822322 single base substitution G A upstream_gene_variant COAD-US 19 6828648 6828648 single base substitution G A downstream_gene_variant COAD-US 19 6828648 6828648 single base substitution G A exon_variant COAD-US 19 6828648 6828648 single base substitution G A missense_variant V273M 817G>A COAD-US 19 6828648 6828648 single base substitution G A missense_variant V315M 943G>A COAD-US 19 6828648 6828648 single base substitution G A missense_variant V338M 1012G>A COAD-US 19 6828648 6828648 single base substitution G A missense_variant V370M 1108G>A COAD-US 19 6833228 6833228 single base substitution C T downstream_gene_variant COAD-US 19 6833228 6833228 single base substitution C T exon_variant COAD-US 19 6833228 6833228 single base substitution C T synonymous_variant N417N 1251C>T COAD-US 19 6833228 6833228 single base substitution C T synonymous_variant N459N 1377C>T COAD-US 19 6833228 6833228 single base substitution C T synonymous_variant N482N 1446C>T COAD-US 19 6833228 6833228 single base substitution C T synonymous_variant N514N 1542C>T COAD-US 19 6833228 6833228 single base substitution C T upstream_gene_variant COAD-US 19 6848029 6848029 single base substitution G A missense_variant R581Q 1742G>A COAD-US 19 6848029 6848029 single base substitution G A missense_variant R623Q 1868G>A COAD-US 19 6848029 6848029 single base substitution G A missense_variant R646Q 1937G>A COAD-US 19 6848029 6848029 single base substitution G A missense_variant R656Q 1967G>A COAD-US 19 6848029 6848029 single base substitution G A missense_variant R678Q 2033G>A COCA-CN 19 6820808 6820808 single base substitution C T synonymous_variant F100F 300C>T COCA-CN 19 6820808 6820808 single base substitution C T synonymous_variant F35F 105C>T COCA-CN 19 6820808 6820808 single base substitution C T synonymous_variant F45F 135C>T COCA-CN 19 6820808 6820808 single base substitution C T upstream_gene_variant COCA-CN 19 6820810 6820810 single base substitution A G missense_variant D101G 302A>G COCA-CN 19 6820810 6820810 single base substitution A G missense_variant D36G 107A>G COCA-CN 19 6820810 6820810 single base substitution A G missense_variant D46G 137A>G COCA-CN 19 6820810 6820810 single base substitution A G upstream_gene_variant COCA-CN 19 6820951 6820951 single base substitution C T intron_variant COCA-CN 19 6820951 6820951 single base substitution C T upstream_gene_variant COCA-CN 19 6821545 6821545 single base substitution C T intron_variant COCA-CN 19 6821545 6821545 single base substitution C T upstream_gene_variant COCA-CN 19 6822158 6822158 single base substitution C G intron_variant COCA-CN 19 6822158 6822158 single base substitution C G upstream_gene_variant COCA-CN 19 6822199 6822199 single base substitution G A intron_variant COCA-CN 19 6822199 6822199 single base substitution G A upstream_gene_variant COCA-CN 19 6824956 6824956 single base substitution C T intron_variant COCA-CN 19 6824956 6824956 single base substitution C T upstream_gene_variant COCA-CN 19 6825032 6825032 single base substitution T C intron_variant COCA-CN 19 6825032 6825032 single base substitution T C upstream_gene_variant COCA-CN 19 6826629 6826629 single base substitution C T exon_variant COCA-CN 19 6826629 6826629 single base substitution C T synonymous_variant L181L 543C>T COCA-CN 19 6826629 6826629 single base substitution C T synonymous_variant L223L 669C>T COCA-CN 19 6826629 6826629 single base substitution C T synonymous_variant L246L 738C>T COCA-CN 19 6826629 6826629 single base substitution C T synonymous_variant L278L 834C>T COCA-CN 19 6826629 6826629 single base substitution C T upstream_gene_variant COCA-CN 19 6828416 6828416 single base substitution C A downstream_gene_variant COCA-CN 19 6828416 6828416 single base substitution C A exon_variant COCA-CN 19 6828416 6828416 single base substitution C A intron_variant COCA-CN 19 6828416 6828416 single base substitution C A upstream_gene_variant COCA-CN 19 6832604 6832604 single base substitution T C downstream_gene_variant COCA-CN 19 6832604 6832604 single base substitution T C intron_variant COCA-CN 19 6832604 6832604 single base substitution T C upstream_gene_variant COCA-CN 19 6836549 6836549 single base substitution G A downstream_gene_variant COCA-CN 19 6836549 6836549 single base substitution G A exon_variant COCA-CN 19 6836549 6836549 single base substitution G A synonymous_variant T531T 1593G>A COCA-CN 19 6836549 6836549 single base substitution G A synonymous_variant T573T 1719G>A COCA-CN 19 6836549 6836549 single base substitution G A synonymous_variant T596T 1788G>A COCA-CN 19 6836549 6836549 single base substitution G A synonymous_variant T628T 1884G>A COCA-CN 19 6837143 6837143 single base substitution C T downstream_gene_variant COCA-CN 19 6837143 6837143 single base substitution C T intron_variant COCA-CN 19 6841145 6841145 single base substitution C T downstream_gene_variant COCA-CN 19 6841145 6841145 single base substitution C T intron_variant COCA-CN 19 6843060 6843060 single base substitution G C intron_variant EOPC-DE 19 6780878 6780878 single base substitution C T intron_variant EOPC-DE 19 6780878 6780878 single base substitution C T upstream_gene_variant EOPC-DE 19 6829389 6829389 single base substitution A G downstream_gene_variant EOPC-DE 19 6829389 6829389 single base substitution A G intron_variant EOPC-DE 19 6852940 6852940 single base substitution G A intron_variant ESAD-UK 19 6768304 6768304 single base substitution C T upstream_gene_variant ESAD-UK 19 6771381 6771381 single base substitution G A upstream_gene_variant ESAD-UK 19 6772869 6772869 single base substitution G A synonymous_variant L17L 51G>A ESAD-UK 19 6772869 6772869 single base substitution G A upstream_gene_variant ESAD-UK 19 6774067 6774067 single base substitution G A intron_variant ESAD-UK 19 6774349 6774349 single base substitution C T intron_variant ESAD-UK 19 6774970 6774970 single base substitution T C intron_variant ESAD-UK 19 6774973 6774973 single base substitution T C intron_variant ESAD-UK 19 6775062 6775062 single base substitution C A intron_variant ESAD-UK 19 6776532 6776535 deletion of <=200bp CATC - intron_variant ESAD-UK 19 6776644 6776644 single base substitution C T intron_variant ESAD-UK 19 6779642 6779642 single base substitution C T intron_variant ESAD-UK 19 6779642 6779642 single base substitution C T upstream_gene_variant ESAD-UK 19 6781930 6781930 single base substitution T C intron_variant ESAD-UK 19 6781930 6781930 single base substitution T C upstream_gene_variant ESAD-UK 19 6783075 6783075 single base substitution C A intron_variant ESAD-UK 19 6783075 6783075 single base substitution C A upstream_gene_variant ESAD-UK 19 6786466 6786466 single base substitution G A intron_variant ESAD-UK 19 6786592 6786592 single base substitution G C intron_variant ESAD-UK 19 6787818 6787818 single base substitution T C intron_variant ESAD-UK 19 6788450 6788450 single base substitution C A intron_variant ESAD-UK 19 6788625 6788625 single base substitution C A intron_variant ESAD-UK 19 6788965 6788965 single base substitution G C intron_variant ESAD-UK 19 6790569 6790569 single base substitution G T intron_variant ESAD-UK 19 6791465 6791465 single base substitution C T intron_variant ESAD-UK 19 6792584 6792584 single base substitution G T intron_variant ESAD-UK 19 6792794 6792794 single base substitution G A intron_variant ESAD-UK 19 6792906 6792906 single base substitution C A intron_variant ESAD-UK 19 6792941 6792941 single base substitution G A intron_variant ESAD-UK 19 6793330 6793330 single base substitution G C intron_variant ESAD-UK 19 6793734 6793734 single base substitution C T intron_variant ESAD-UK 19 6794025 6794028 deletion of <=200bp ATTT - intron_variant ESAD-UK 19 6794186 6794186 single base substitution T C intron_variant ESAD-UK 19 6795107 6795107 single base substitution C T intron_variant ESAD-UK 19 6796614 6796614 single base substitution C T intron_variant ESAD-UK 19 6797416 6797416 single base substitution A G intron_variant ESAD-UK 19 6797751 6797751 single base substitution G A intron_variant ESAD-UK 19 6798957 6798957 single base substitution G A intron_variant ESAD-UK 19 6799240 6799240 single base substitution G A intron_variant ESAD-UK 19 6799756 6799756 single base substitution T G intron_variant ESAD-UK 19 6803312 6803312 single base substitution A G intron_variant ESAD-UK 19 6804948 6804948 single base substitution A T intron_variant ESAD-UK 19 6805119 6805119 single base substitution G A intron_variant ESAD-UK 19 6806365 6806365 single base substitution G A intron_variant ESAD-UK 19 6806401 6806401 deletion of <=200bp T - intron_variant ESAD-UK 19 6806402 6806402 single base substitution T A intron_variant ESAD-UK 19 6807958 6807958 single base substitution G C intron_variant ESAD-UK 19 6808534 6808534 single base substitution G C intron_variant ESAD-UK 19 6808927 6808927 single base substitution G T intron_variant ESAD-UK 19 6809098 6809098 single base substitution T G intron_variant ESAD-UK 19 6815118 6815118 single base substitution G C intron_variant ESAD-UK 19 6815332 6815332 single base substitution T G intron_variant ESAD-UK 19 6816501 6816501 single base substitution C T intron_variant ESAD-UK 19 6817226 6817226 deletion of <=200bp T - intron_variant ESAD-UK 19 6819131 6819131 insertion of <=200bp - A intron_variant ESAD-UK 19 6819131 6819131 insertion of <=200bp - A upstream_gene_variant ESAD-UK 19 6819329 6819329 single base substitution G A intron_variant ESAD-UK 19 6819329 6819329 single base substitution G A upstream_gene_variant ESAD-UK 19 6819392 6819392 single base substitution A G intron_variant ESAD-UK 19 6819392 6819392 single base substitution A G upstream_gene_variant ESAD-UK 19 6819418 6819418 single base substitution T C intron_variant ESAD-UK 19 6819418 6819418 single base substitution T C upstream_gene_variant ESAD-UK 19 6819993 6819993 single base substitution T C intron_variant ESAD-UK 19 6819993 6819993 single base substitution T C upstream_gene_variant ESAD-UK 19 6820323 6820323 single base substitution C T intron_variant ESAD-UK 19 6820323 6820323 single base substitution C T upstream_gene_variant ESAD-UK 19 6820386 6820386 deletion of <=200bp T - intron_variant ESAD-UK 19 6820386 6820386 deletion of <=200bp T - upstream_gene_variant ESAD-UK 19 6821285 6821285 single base substitution G A intron_variant ESAD-UK 19 6821285 6821285 single base substitution G A upstream_gene_variant ESAD-UK 19 6821407 6821407 single base substitution G A intron_variant ESAD-UK 19 6821407 6821407 single base substitution G A upstream_gene_variant ESAD-UK 19 6822162 6822162 single base substitution G A intron_variant ESAD-UK 19 6822162 6822162 single base substitution G A upstream_gene_variant ESAD-UK 19 6822793 6822793 single base substitution A T intron_variant ESAD-UK 19 6823525 6823525 single base substitution T A intron_variant ESAD-UK 19 6823525 6823525 single base substitution T A upstream_gene_variant ESAD-UK 19 6823952 6823952 single base substitution G T intron_variant ESAD-UK 19 6823952 6823952 single base substitution G T upstream_gene_variant ESAD-UK 19 6825119 6825119 single base substitution T C exon_variant ESAD-UK 19 6825119 6825119 single base substitution T C missense_variant F140S 419T>C ESAD-UK 19 6825119 6825119 single base substitution T C missense_variant F182S 545T>C ESAD-UK 19 6825119 6825119 single base substitution T C missense_variant F205S 614T>C ESAD-UK 19 6825119 6825119 single base substitution T C missense_variant F237S 710T>C ESAD-UK 19 6825119 6825119 single base substitution T C upstream_gene_variant ESAD-UK 19 6825865 6825865 single base substitution G A intron_variant ESAD-UK 19 6825865 6825865 single base substitution G A upstream_gene_variant ESAD-UK 19 6825868 6825868 single base substitution T C intron_variant ESAD-UK 19 6825868 6825868 single base substitution T C upstream_gene_variant ESAD-UK 19 6826231 6826231 single base substitution C A intron_variant ESAD-UK 19 6826231 6826231 single base substitution C A upstream_gene_variant ESAD-UK 19 6826689 6826689 single base substitution C T exon_variant ESAD-UK 19 6826689 6826689 single base substitution C T synonymous_variant A201A 603C>T ESAD-UK 19 6826689 6826689 single base substitution C T synonymous_variant A243A 729C>T ESAD-UK 19 6826689 6826689 single base substitution C T synonymous_variant A266A 798C>T ESAD-UK 19 6826689 6826689 single base substitution C T synonymous_variant A298A 894C>T ESAD-UK 19 6826689 6826689 single base substitution C T upstream_gene_variant ESAD-UK 19 6826757 6826757 single base substitution G A exon_variant ESAD-UK 19 6826757 6826757 single base substitution G A intron_variant ESAD-UK 19 6826757 6826757 single base substitution G A upstream_gene_variant ESAD-UK 19 6827396 6827396 single base substitution C T downstream_gene_variant ESAD-UK 19 6827396 6827396 single base substitution C T intron_variant ESAD-UK 19 6827396 6827396 single base substitution C T upstream_gene_variant ESAD-UK 19 6828616 6828616 single base substitution C T downstream_gene_variant ESAD-UK 19 6828616 6828616 single base substitution C T exon_variant ESAD-UK 19 6828616 6828616 single base substitution C T intron_variant ESAD-UK 19 6829590 6829590 single base substitution C T downstream_gene_variant ESAD-UK 19 6829590 6829590 single base substitution C T intron_variant ESAD-UK 19 6830340 6830340 single base substitution T G downstream_gene_variant ESAD-UK 19 6830340 6830340 single base substitution T G intron_variant ESAD-UK 19 6831919 6831919 single base substitution G T downstream_gene_variant ESAD-UK 19 6831919 6831919 single base substitution G T intron_variant ESAD-UK 19 6831919 6831919 single base substitution G T upstream_gene_variant ESAD-UK 19 6834357 6834357 single base substitution C T downstream_gene_variant ESAD-UK 19 6834357 6834357 single base substitution C T intron_variant ESAD-UK 19 6834357 6834357 single base substitution C T upstream_gene_variant ESAD-UK 19 6836030 6836030 single base substitution G T downstream_gene_variant ESAD-UK 19 6836030 6836030 single base substitution G T exon_variant ESAD-UK 19 6836030 6836030 single base substitution G T intron_variant ESAD-UK 19 6836276 6836276 single base substitution G C downstream_gene_variant ESAD-UK 19 6836276 6836276 single base substitution G C exon_variant ESAD-UK 19 6836276 6836276 single base substitution G C intron_variant ESAD-UK 19 6837321 6837321 single base substitution A C downstream_gene_variant ESAD-UK 19 6837321 6837321 single base substitution A C intron_variant ESAD-UK 19 6838608 6838608 single base substitution T C downstream_gene_variant ESAD-UK 19 6838608 6838608 single base substitution T C intron_variant ESAD-UK 19 6838904 6838904 insertion of <=200bp - TTTA downstream_gene_variant ESAD-UK 19 6838904 6838904 insertion of <=200bp - TTTA intron_variant ESAD-UK 19 6839017 6839017 single base substitution G A downstream_gene_variant ESAD-UK 19 6839017 6839017 single base substitution G A intron_variant ESAD-UK 19 6839018 6839018 single base substitution A T downstream_gene_variant ESAD-UK 19 6839018 6839018 single base substitution A T intron_variant ESAD-UK 19 6840679 6840679 single base substitution A G downstream_gene_variant ESAD-UK 19 6840679 6840679 single base substitution A G intron_variant ESAD-UK 19 6841774 6841774 single base substitution C T downstream_gene_variant ESAD-UK 19 6841774 6841774 single base substitution C T intron_variant ESAD-UK 19 6842350 6842350 single base substitution G A intron_variant ESAD-UK 19 6842555 6842555 single base substitution C T intron_variant ESAD-UK 19 6843276 6843276 single base substitution C T intron_variant ESAD-UK 19 6843539 6843539 single base substitution G C intron_variant ESAD-UK 19 6843766 6843766 single base substitution A T intron_variant ESAD-UK 19 6845140 6845140 single base substitution T C intron_variant ESAD-UK 19 6845264 6845264 single base substitution C T intron_variant ESAD-UK 19 6846291 6846291 single base substitution C T intron_variant ESAD-UK 19 6847252 6847252 single base substitution G A intron_variant ESAD-UK 19 6849748 6849748 single base substitution T A intron_variant ESAD-UK 19 6849790 6849790 single base substitution C T intron_variant ESAD-UK 19 6850343 6850343 single base substitution C A intron_variant ESAD-UK 19 6850687 6850687 single base substitution C T synonymous_variant N615N 1845C>T ESAD-UK 19 6850687 6850687 single base substitution C T synonymous_variant N657N 1971C>T ESAD-UK 19 6850687 6850687 single base substitution C T synonymous_variant N680N 2040C>T ESAD-UK 19 6850687 6850687 single base substitution C T synonymous_variant N690N 2070C>T ESAD-UK 19 6850687 6850687 single base substitution C T synonymous_variant N712N 2136C>T ESAD-UK 19 6851365 6851365 single base substitution T A intron_variant ESAD-UK 19 6855636 6855636 single base substitution T G intron_variant ESAD-UK 19 6856393 6856393 deletion of <=200bp A - intron_variant ESAD-UK 19 6859120 6859120 deletion of <=200bp G - downstream_gene_variant ESAD-UK 19 6859122 6859122 single base substitution T C downstream_gene_variant ESAD-UK 19 6861024 6861024 single base substitution G A downstream_gene_variant ESAD-UK 19 6861043 6861043 single base substitution G T downstream_gene_variant ESAD-UK 19 6861403 6861403 single base substitution G T downstream_gene_variant ESAD-UK 19 6861552 6861552 single base substitution G T downstream_gene_variant ESCA-CN 19 6820808 6820808 single base substitution C T synonymous_variant F100F 300C>T ESCA-CN 19 6820808 6820808 single base substitution C T synonymous_variant F35F 105C>T ESCA-CN 19 6820808 6820808 single base substitution C T synonymous_variant F45F 135C>T ESCA-CN 19 6820808 6820808 single base substitution C T upstream_gene_variant GBM-US 19 6772889 6772889 single base substitution C A missense_variant T24N 71C>A GBM-US 19 6772889 6772889 single base substitution C A upstream_gene_variant GBM-US 19 6828653 6828653 single base substitution C T downstream_gene_variant GBM-US 19 6828653 6828653 single base substitution C T exon_variant GBM-US 19 6828653 6828653 single base substitution C T synonymous_variant N274N 822C>T GBM-US 19 6828653 6828653 single base substitution C T synonymous_variant N316N 948C>T GBM-US 19 6828653 6828653 single base substitution C T synonymous_variant N339N 1017C>T GBM-US 19 6828653 6828653 single base substitution C T synonymous_variant N371N 1113C>T GBM-US 19 6843162 6843162 single base substitution T C missense_variant L569P 1706T>C GBM-US 19 6843162 6843162 single base substitution T C missense_variant L611P 1832T>C GBM-US 19 6843162 6843162 single base substitution T C missense_variant L634P 1901T>C GBM-US 19 6843162 6843162 single base substitution T C missense_variant L644P 1931T>C GBM-US 19 6843162 6843162 single base substitution T C missense_variant L666P 1997T>C GBM-US 19 6854017 6854017 single base substitution C T stop_gained R701* 2101C>T GBM-US 19 6854017 6854017 single base substitution C T stop_gained R743* 2227C>T GBM-US 19 6854017 6854017 single base substitution C T stop_gained R766* 2296C>T GBM-US 19 6854017 6854017 single base substitution C T stop_gained R776* 2326C>T GBM-US 19 6854017 6854017 single base substitution C T stop_gained R798* 2392C>T KIRC-US 19 6828447 6828447 single base substitution G A downstream_gene_variant KIRC-US 19 6828447 6828447 single base substitution G A exon_variant KIRC-US 19 6828447 6828447 single base substitution G A synonymous_variant T250T 750G>A KIRC-US 19 6828447 6828447 single base substitution G A synonymous_variant T292T 876G>A KIRC-US 19 6828447 6828447 single base substitution G A synonymous_variant T315T 945G>A KIRC-US 19 6828447 6828447 single base substitution G A synonymous_variant T347T 1041G>A KIRC-US 19 6828447 6828447 single base substitution G A upstream_gene_variant KIRC-US 19 6828475 6828475 single base substitution C T downstream_gene_variant KIRC-US 19 6828475 6828475 single base substitution C T exon_variant KIRC-US 19 6828475 6828475 single base substitution C T missense_variant R260W 778C>T KIRC-US 19 6828475 6828475 single base substitution C T missense_variant R302W 904C>T KIRC-US 19 6828475 6828475 single base substitution C T missense_variant R325W 973C>T KIRC-US 19 6828475 6828475 single base substitution C T missense_variant R357W 1069C>T KIRC-US 19 6828883 6828883 single base substitution T C downstream_gene_variant KIRC-US 19 6828883 6828883 single base substitution T C exon_variant KIRC-US 19 6828883 6828883 single base substitution T C missense_variant S316P 946T>C KIRC-US 19 6828883 6828883 single base substitution T C missense_variant S358P 1072T>C KIRC-US 19 6828883 6828883 single base substitution T C missense_variant S381P 1141T>C KIRC-US 19 6828883 6828883 single base substitution T C missense_variant S413P 1237T>C KIRC-US 19 6853050 6853050 single base substitution C T synonymous_variant P667P 2001C>T KIRC-US 19 6853050 6853050 single base substitution C T synonymous_variant P709P 2127C>T KIRC-US 19 6853050 6853050 single base substitution C T synonymous_variant P732P 2196C>T KIRC-US 19 6853050 6853050 single base substitution C T synonymous_variant P742P 2226C>T KIRC-US 19 6853050 6853050 single base substitution C T synonymous_variant P764P 2292C>T KIRP-US 19 6833546 6833546 single base substitution T G downstream_gene_variant KIRP-US 19 6833546 6833546 single base substitution T G exon_variant KIRP-US 19 6833546 6833546 single base substitution T G missense_variant F443V 1327T>G KIRP-US 19 6833546 6833546 single base substitution T G missense_variant F485V 1453T>G KIRP-US 19 6833546 6833546 single base substitution T G missense_variant F508V 1522T>G KIRP-US 19 6833546 6833546 single base substitution T G missense_variant F540V 1618T>G KIRP-US 19 6833546 6833546 single base substitution T G upstream_gene_variant LAML-KR 19 6771475 6771475 single base substitution G A upstream_gene_variant LAML-KR 19 6774583 6774583 single base substitution T C intron_variant LAML-KR 19 6779012 6779012 single base substitution C T intron_variant LAML-KR 19 6785730 6785730 single base substitution G A intron_variant LAML-KR 19 6785733 6785733 single base substitution C T intron_variant LAML-KR 19 6820951 6820951 single base substitution C T intron_variant LAML-KR 19 6820951 6820951 single base substitution C T upstream_gene_variant LAML-KR 19 6825030 6825030 single base substitution T C intron_variant LAML-KR 19 6825030 6825030 single base substitution T C upstream_gene_variant LAML-KR 19 6825032 6825032 single base substitution T C intron_variant LAML-KR 19 6825032 6825032 single base substitution T C upstream_gene_variant LAML-KR 19 6857791 6857791 single base substitution C T downstream_gene_variant LAML-KR 19 6857792 6857792 single base substitution A G downstream_gene_variant LGG-US 19 6772867 6772867 single base substitution C G missense_variant L17V 49C>G LGG-US 19 6772867 6772867 single base substitution C G upstream_gene_variant LGG-US 19 6828446 6828446 single base substitution C T downstream_gene_variant LGG-US 19 6828446 6828446 single base substitution C T exon_variant LGG-US 19 6828446 6828446 single base substitution C T missense_variant T250M 749C>T LGG-US 19 6828446 6828446 single base substitution C T missense_variant T292M 875C>T LGG-US 19 6828446 6828446 single base substitution C T missense_variant T315M 944C>T LGG-US 19 6828446 6828446 single base substitution C T missense_variant T347M 1040C>T LGG-US 19 6828446 6828446 single base substitution C T upstream_gene_variant LGG-US 19 6833209 6833209 single base substitution C T downstream_gene_variant LGG-US 19 6833209 6833209 single base substitution C T exon_variant LGG-US 19 6833209 6833209 single base substitution C T missense_variant P411L 1232C>T LGG-US 19 6833209 6833209 single base substitution C T missense_variant P453L 1358C>T LGG-US 19 6833209 6833209 single base substitution C T missense_variant P476L 1427C>T LGG-US 19 6833209 6833209 single base substitution C T missense_variant P508L 1523C>T LGG-US 19 6833209 6833209 single base substitution C T upstream_gene_variant LICA-CN 19 6820749 6820749 single base substitution A G missense_variant T16A 46A>G LICA-CN 19 6820749 6820749 single base substitution A G missense_variant T26A 76A>G LICA-CN 19 6820749 6820749 single base substitution A G missense_variant T81A 241A>G LICA-CN 19 6820749 6820749 single base substitution A G upstream_gene_variant LICA-CN 19 6833267 6833267 single base substitution A T downstream_gene_variant LICA-CN 19 6833267 6833267 single base substitution A T exon_variant LICA-CN 19 6833267 6833267 single base substitution A T synonymous_variant T430T 1290A>T LICA-CN 19 6833267 6833267 single base substitution A T synonymous_variant T472T 1416A>T LICA-CN 19 6833267 6833267 single base substitution A T synonymous_variant T495T 1485A>T LICA-CN 19 6833267 6833267 single base substitution A T synonymous_variant T527T 1581A>T LICA-CN 19 6833267 6833267 single base substitution A T upstream_gene_variant LICA-CN 19 6850717 6850717 single base substitution A T synonymous_variant T625T 1875A>T LICA-CN 19 6850717 6850717 single base substitution A T synonymous_variant T667T 2001A>T LICA-CN 19 6850717 6850717 single base substitution A T synonymous_variant T690T 2070A>T LICA-CN 19 6850717 6850717 single base substitution A T synonymous_variant T700T 2100A>T LICA-CN 19 6850717 6850717 single base substitution A T synonymous_variant T722T 2166A>T LICA-FR 19 6776950 6776950 single base substitution T C intron_variant LICA-FR 19 6797243 6797244 deletion of <=200bp AA - intron_variant LICA-FR 19 6804423 6804423 single base substitution A T intron_variant LICA-FR 19 6806391 6806391 single base substitution C T intron_variant LICA-FR 19 6808131 6808131 single base substitution C T intron_variant LICA-FR 19 6814554 6814554 single base substitution T A intron_variant LICA-FR 19 6827775 6827775 insertion of <=200bp - T downstream_gene_variant LICA-FR 19 6827775 6827775 insertion of <=200bp - T intron_variant LICA-FR 19 6827775 6827775 insertion of <=200bp - T upstream_gene_variant LICA-FR 19 6828345 6828345 single base substitution T A downstream_gene_variant LICA-FR 19 6828345 6828345 single base substitution T A exon_variant LICA-FR 19 6828345 6828345 single base substitution T A intron_variant LICA-FR 19 6828345 6828345 single base substitution T A upstream_gene_variant LIHC-US 19 6825416 6825416 single base substitution A G missense_variant R179G 535A>G LIHC-US 19 6825416 6825416 single base substitution A G missense_variant R221G 661A>G LIHC-US 19 6825416 6825416 single base substitution A G missense_variant R244G 730A>G LIHC-US 19 6825416 6825416 single base substitution A G missense_variant R276G 826A>G LIHC-US 19 6825416 6825416 single base substitution A G splice_region_variant LIHC-US 19 6825416 6825416 single base substitution A G upstream_gene_variant LIHC-US 19 6833726 6833726 single base substitution C A downstream_gene_variant LIHC-US 19 6833726 6833726 single base substitution C A exon_variant LIHC-US 19 6833726 6833726 single base substitution C A missense_variant F474L 1422C>A LIHC-US 19 6833726 6833726 single base substitution C A missense_variant F516L 1548C>A LIHC-US 19 6833726 6833726 single base substitution C A missense_variant F539L 1617C>A LIHC-US 19 6833726 6833726 single base substitution C A missense_variant F571L 1713C>A LIHC-US 19 6833726 6833726 single base substitution C A upstream_gene_variant LINC-JP 19 6775231 6775231 single base substitution G A intron_variant LINC-JP 19 6778658 6778658 single base substitution A G intron_variant LINC-JP 19 6781104 6781104 single base substitution G A intron_variant LINC-JP 19 6781104 6781104 single base substitution G A upstream_gene_variant LINC-JP 19 6791825 6791825 single base substitution G A intron_variant LINC-JP 19 6791827 6791827 single base substitution G T intron_variant LINC-JP 19 6797449 6797449 single base substitution C A intron_variant LINC-JP 19 6812726 6812726 single base substitution G A intron_variant LINC-JP 19 6821672 6821672 single base substitution G A missense_variant A121T 361G>A LINC-JP 19 6821672 6821672 single base substitution G A missense_variant A56T 166G>A LINC-JP 19 6821672 6821672 single base substitution G A missense_variant A66T 196G>A LINC-JP 19 6821672 6821672 single base substitution G A upstream_gene_variant LINC-JP 19 6828922 6828922 single base substitution T A downstream_gene_variant LINC-JP 19 6828922 6828922 single base substitution T A intron_variant LINC-JP 19 6835723 6835723 single base substitution T C downstream_gene_variant LINC-JP 19 6835723 6835723 single base substitution T C intron_variant LINC-JP 19 6835723 6835723 single base substitution T C upstream_gene_variant LINC-JP 19 6836917 6836917 single base substitution G A downstream_gene_variant LINC-JP 19 6836917 6836917 single base substitution G A intron_variant LINC-JP 19 6837392 6837392 single base substitution C T downstream_gene_variant LINC-JP 19 6837392 6837392 single base substitution C T intron_variant LINC-JP 19 6842196 6842196 single base substitution G A intron_variant LINC-JP 19 6844482 6844482 single base substitution C A intron_variant LINC-JP 19 6845167 6845167 single base substitution C T intron_variant LINC-JP 19 6853097 6853097 single base substitution G A splice_region_variant LINC-JP 19 6857547 6857547 single base substitution C T downstream_gene_variant LIRI-JP 19 6769366 6769366 single base substitution T C upstream_gene_variant LIRI-JP 19 6770385 6770385 single base substitution A G upstream_gene_variant LIRI-JP 19 6773818 6773818 single base substitution G T intron_variant LIRI-JP 19 6775943 6775943 single base substitution G A intron_variant LIRI-JP 19 6777545 6777545 single base substitution C A intron_variant LIRI-JP 19 6778040 6778040 single base substitution C A intron_variant LIRI-JP 19 6778041 6778041 single base substitution G A intron_variant LIRI-JP 19 6778048 6778048 single base substitution A T intron_variant LIRI-JP 19 6780513 6780513 single base substitution G A intron_variant LIRI-JP 19 6780513 6780513 single base substitution G A upstream_gene_variant LIRI-JP 19 6784828 6784828 single base substitution C T intron_variant LIRI-JP 19 6785922 6785922 single base substitution G A intron_variant LIRI-JP 19 6786136 6786136 single base substitution T C intron_variant LIRI-JP 19 6787334 6787334 single base substitution A G intron_variant LIRI-JP 19 6789116 6789116 single base substitution G T intron_variant LIRI-JP 19 6790524 6790524 single base substitution G T intron_variant LIRI-JP 19 6791123 6791123 single base substitution G A intron_variant LIRI-JP 19 6793999 6793999 single base substitution T C intron_variant LIRI-JP 19 6794780 6794780 single base substitution A G intron_variant LIRI-JP 19 6802944 6802944 single base substitution C T intron_variant LIRI-JP 19 6804083 6804083 single base substitution G A intron_variant LIRI-JP 19 6808878 6808878 single base substitution G C intron_variant LIRI-JP 19 6809005 6809005 single base substitution G A intron_variant LIRI-JP 19 6810027 6810027 single base substitution A G intron_variant LIRI-JP 19 6811849 6811849 single base substitution G T intron_variant LIRI-JP 19 6812195 6812195 single base substitution T C intron_variant LIRI-JP 19 6812771 6812771 single base substitution T C intron_variant LIRI-JP 19 6813204 6813204 single base substitution G T intron_variant LIRI-JP 19 6813731 6813731 single base substitution A G intron_variant LIRI-JP 19 6814439 6814439 single base substitution A G intron_variant LIRI-JP 19 6814973 6814973 single base substitution T C intron_variant LIRI-JP 19 6815142 6815142 single base substitution T C intron_variant LIRI-JP 19 6815239 6815239 single base substitution G T intron_variant LIRI-JP 19 6816175 6816175 single base substitution C G intron_variant LIRI-JP 19 6816661 6816661 single base substitution C G intron_variant LIRI-JP 19 6818953 6818953 single base substitution C G intron_variant LIRI-JP 19 6818953 6818953 single base substitution C G upstream_gene_variant LIRI-JP 19 6820443 6820443 single base substitution A G intron_variant LIRI-JP 19 6820443 6820443 single base substitution A G upstream_gene_variant LIRI-JP 19 6820477 6820477 single base substitution T C intron_variant LIRI-JP 19 6820477 6820477 single base substitution T C upstream_gene_variant LIRI-JP 19 6821018 6821018 single base substitution A G intron_variant LIRI-JP 19 6821018 6821018 single base substitution A G upstream_gene_variant LIRI-JP 19 6821046 6821046 single base substitution A T intron_variant LIRI-JP 19 6821046 6821046 single base substitution A T upstream_gene_variant LIRI-JP 19 6821637 6821637 single base substitution T A missense_variant I109N 326T>A LIRI-JP 19 6821637 6821637 single base substitution T A missense_variant I44N 131T>A LIRI-JP 19 6821637 6821637 single base substitution T A missense_variant I54N 161T>A LIRI-JP 19 6821637 6821637 single base substitution T A upstream_gene_variant LIRI-JP 19 6822279 6822279 single base substitution A C missense_variant E101A 302A>C LIRI-JP 19 6822279 6822279 single base substitution A C missense_variant E111A 332A>C LIRI-JP 19 6822279 6822279 single base substitution A C missense_variant E166A 497A>C LIRI-JP 19 6822279 6822279 single base substitution A C upstream_gene_variant LIRI-JP 19 6825521 6825521 single base substitution T C intron_variant LIRI-JP 19 6825521 6825521 single base substitution T C upstream_gene_variant LIRI-JP 19 6825747 6825747 single base substitution G A intron_variant LIRI-JP 19 6825747 6825747 single base substitution G A upstream_gene_variant LIRI-JP 19 6828252 6828252 single base substitution G C downstream_gene_variant LIRI-JP 19 6828252 6828252 single base substitution G C intron_variant LIRI-JP 19 6828252 6828252 single base substitution G C upstream_gene_variant LIRI-JP 19 6828877 6828877 single base substitution A C downstream_gene_variant LIRI-JP 19 6828877 6828877 single base substitution A C exon_variant LIRI-JP 19 6828877 6828877 single base substitution A C missense_variant I314L 940A>C LIRI-JP 19 6828877 6828877 single base substitution A C missense_variant I356L 1066A>C LIRI-JP 19 6828877 6828877 single base substitution A C missense_variant I379L 1135A>C LIRI-JP 19 6828877 6828877 single base substitution A C missense_variant I411L 1231A>C LIRI-JP 19 6829598 6829598 single base substitution A T downstream_gene_variant LIRI-JP 19 6829598 6829598 single base substitution A T intron_variant LIRI-JP 19 6830371 6830371 single base substitution A T downstream_gene_variant LIRI-JP 19 6830371 6830371 single base substitution A T intron_variant LIRI-JP 19 6835759 6835759 single base substitution T C downstream_gene_variant LIRI-JP 19 6835759 6835759 single base substitution T C intron_variant LIRI-JP 19 6835759 6835759 single base substitution T C upstream_gene_variant LIRI-JP 19 6838855 6838855 single base substitution T C downstream_gene_variant LIRI-JP 19 6838855 6838855 single base substitution T C intron_variant LIRI-JP 19 6840097 6840097 single base substitution T A downstream_gene_variant LIRI-JP 19 6840097 6840097 single base substitution T A intron_variant LIRI-JP 19 6843807 6843807 single base substitution A G intron_variant LIRI-JP 19 6844222 6844222 single base substitution C A intron_variant LIRI-JP 19 6844801 6844801 single base substitution C T intron_variant LIRI-JP 19 6844896 6844896 single base substitution G A intron_variant LIRI-JP 19 6846248 6846248 single base substitution C T intron_variant LIRI-JP 19 6847535 6847535 single base substitution T G intron_variant LIRI-JP 19 6848112 6848112 single base substitution G A missense_variant A609T 1825G>A LIRI-JP 19 6848112 6848112 single base substitution G A missense_variant A651T 1951G>A LIRI-JP 19 6848112 6848112 single base substitution G A missense_variant A674T 2020G>A LIRI-JP 19 6848112 6848112 single base substitution G A missense_variant A684T 2050G>A LIRI-JP 19 6848112 6848112 single base substitution G A missense_variant A706T 2116G>A LIRI-JP 19 6848507 6848507 single base substitution A T intron_variant LIRI-JP 19 6848651 6848651 single base substitution T C intron_variant LIRI-JP 19 6850678 6850678 single base substitution C T splice_region_variant LIRI-JP 19 6851487 6851487 single base substitution T C intron_variant LIRI-JP 19 6853552 6853552 single base substitution T C intron_variant LIRI-JP 19 6855784 6855784 single base substitution T C intron_variant LIRI-JP 19 6856328 6856328 single base substitution C G intron_variant LIRI-JP 19 6857728 6857728 single base substitution T G downstream_gene_variant LIRI-JP 19 6858556 6858556 single base substitution C A downstream_gene_variant LIRI-JP 19 6858717 6858717 single base substitution T A downstream_gene_variant LIRI-JP 19 6860469 6860469 single base substitution C T downstream_gene_variant LIRI-JP 19 6860538 6860538 single base substitution C T downstream_gene_variant LIRI-JP 19 6861717 6861717 single base substitution T C downstream_gene_variant LUSC-KR 19 6769643 6769643 single base substitution C G upstream_gene_variant LUSC-KR 19 6774496 6774496 single base substitution G A intron_variant LUSC-KR 19 6776288 6776288 single base substitution T C intron_variant LUSC-KR 19 6779012 6779012 single base substitution C T intron_variant LUSC-KR 19 6780942 6780942 single base substitution C A intron_variant LUSC-KR 19 6780942 6780942 single base substitution C A upstream_gene_variant LUSC-KR 19 6782019 6782019 single base substitution T A intron_variant LUSC-KR 19 6782019 6782019 single base substitution T A upstream_gene_variant LUSC-KR 19 6784166 6784166 single base substitution G C 5_prime_UTR_variant LUSC-KR 19 6784166 6784166 single base substitution G C intron_variant LUSC-KR 19 6785898 6785898 single base substitution G A intron_variant LUSC-KR 19 6789794 6789794 single base substitution G T intron_variant LUSC-KR 19 6791342 6791342 single base substitution G T intron_variant LUSC-KR 19 6792249 6792249 single base substitution A T intron_variant LUSC-KR 19 6793599 6793599 single base substitution G T intron_variant LUSC-KR 19 6793843 6793843 single base substitution A T intron_variant LUSC-KR 19 6794959 6794959 single base substitution G T intron_variant LUSC-KR 19 6798172 6798172 single base substitution C T intron_variant LUSC-KR 19 6801575 6801575 single base substitution C T intron_variant LUSC-KR 19 6804753 6804753 single base substitution G C intron_variant LUSC-KR 19 6805220 6805220 single base substitution A G intron_variant LUSC-KR 19 6808000 6808000 single base substitution C A intron_variant LUSC-KR 19 6809170 6809170 single base substitution C A intron_variant LUSC-KR 19 6809745 6809745 single base substitution G C intron_variant LUSC-KR 19 6812635 6812635 single base substitution C A intron_variant LUSC-KR 19 6818358 6818358 single base substitution G C intron_variant LUSC-KR 19 6818358 6818358 single base substitution G C upstream_gene_variant LUSC-KR 19 6819378 6819378 single base substitution C T intron_variant LUSC-KR 19 6819378 6819378 single base substitution C T upstream_gene_variant LUSC-KR 19 6820951 6820951 single base substitution C T intron_variant LUSC-KR 19 6820951 6820951 single base substitution C T upstream_gene_variant LUSC-KR 19 6821626 6821626 single base substitution G A splice_region_variant LUSC-KR 19 6821626 6821626 single base substitution G A upstream_gene_variant LUSC-KR 19 6822472 6822472 single base substitution G A exon_variant LUSC-KR 19 6822472 6822472 single base substitution G A intron_variant LUSC-KR 19 6822472 6822472 single base substitution G A missense_variant E146K 436G>A LUSC-KR 19 6822472 6822472 single base substitution G A missense_variant E201K 601G>A LUSC-KR 19 6824012 6824012 single base substitution G T intron_variant LUSC-KR 19 6824012 6824012 single base substitution G T upstream_gene_variant LUSC-KR 19 6825030 6825030 single base substitution T C intron_variant LUSC-KR 19 6825030 6825030 single base substitution T C upstream_gene_variant LUSC-KR 19 6825307 6825307 single base substitution C T splice_region_variant LUSC-KR 19 6825307 6825307 single base substitution C T upstream_gene_variant LUSC-KR 19 6828040 6828040 single base substitution G C downstream_gene_variant LUSC-KR 19 6828040 6828040 single base substitution G C intron_variant LUSC-KR 19 6828040 6828040 single base substitution G C upstream_gene_variant LUSC-KR 19 6830658 6830658 single base substitution C T downstream_gene_variant LUSC-KR 19 6830658 6830658 single base substitution C T intron_variant LUSC-KR 19 6830825 6830825 single base substitution G T downstream_gene_variant LUSC-KR 19 6830825 6830825 single base substitution G T intron_variant LUSC-KR 19 6830825 6830825 single base substitution G T upstream_gene_variant LUSC-KR 19 6838326 6838326 single base substitution C G downstream_gene_variant LUSC-KR 19 6838326 6838326 single base substitution C G intron_variant LUSC-KR 19 6838443 6838443 single base substitution C T downstream_gene_variant LUSC-KR 19 6838443 6838443 single base substitution C T intron_variant LUSC-KR 19 6841808 6841808 single base substitution A G downstream_gene_variant LUSC-KR 19 6841808 6841808 single base substitution A G intron_variant LUSC-KR 19 6842167 6842167 single base substitution G C intron_variant LUSC-KR 19 6842492 6842492 single base substitution A G intron_variant LUSC-KR 19 6850257 6850257 single base substitution G T intron_variant LUSC-KR 19 6852999 6852999 single base substitution G C missense_variant Q650H 1950G>C LUSC-KR 19 6852999 6852999 single base substitution G C missense_variant Q692H 2076G>C LUSC-KR 19 6852999 6852999 single base substitution G C missense_variant Q715H 2145G>C LUSC-KR 19 6852999 6852999 single base substitution G C missense_variant Q725H 2175G>C LUSC-KR 19 6852999 6852999 single base substitution G C missense_variant Q747H 2241G>C LUSC-KR 19 6853999 6853999 single base substitution G A missense_variant D695N 2083G>A LUSC-KR 19 6853999 6853999 single base substitution G A missense_variant D737N 2209G>A LUSC-KR 19 6853999 6853999 single base substitution G A missense_variant D760N 2278G>A LUSC-KR 19 6853999 6853999 single base substitution G A missense_variant D770N 2308G>A LUSC-KR 19 6853999 6853999 single base substitution G A missense_variant D792N 2374G>A LUSC-KR 19 6856863 6856863 single base substitution G A intron_variant LUSC-KR 19 6857804 6857804 single base substitution C G downstream_gene_variant LUSC-US 19 6825109 6825109 single base substitution G C exon_variant LUSC-US 19 6825109 6825109 single base substitution G C missense_variant E137Q 409G>C LUSC-US 19 6825109 6825109 single base substitution G C missense_variant E179Q 535G>C LUSC-US 19 6825109 6825109 single base substitution G C missense_variant E202Q 604G>C LUSC-US 19 6825109 6825109 single base substitution G C missense_variant E234Q 700G>C LUSC-US 19 6825109 6825109 single base substitution G C upstream_gene_variant LUSC-US 19 6825111 6825111 single base substitution G T exon_variant LUSC-US 19 6825111 6825111 single base substitution G T missense_variant E137D 411G>T LUSC-US 19 6825111 6825111 single base substitution G T missense_variant E179D 537G>T LUSC-US 19 6825111 6825111 single base substitution G T missense_variant E202D 606G>T LUSC-US 19 6825111 6825111 single base substitution G T missense_variant E234D 702G>T LUSC-US 19 6825111 6825111 single base substitution G T upstream_gene_variant LUSC-US 19 6828713 6828713 single base substitution G C downstream_gene_variant LUSC-US 19 6828713 6828713 single base substitution G C exon_variant LUSC-US 19 6828713 6828713 single base substitution G C missense_variant E294D 882G>C LUSC-US 19 6828713 6828713 single base substitution G C missense_variant E336D 1008G>C LUSC-US 19 6828713 6828713 single base substitution G C missense_variant E359D 1077G>C LUSC-US 19 6828713 6828713 single base substitution G C missense_variant E391D 1173G>C LUSC-US 19 6829837 6829837 single base substitution C A downstream_gene_variant LUSC-US 19 6829837 6829837 single base substitution C A exon_variant LUSC-US 19 6829837 6829837 single base substitution C A intron_variant LUSC-US 19 6829837 6829837 single base substitution C A missense_variant R339S 1015C>A LUSC-US 19 6829837 6829837 single base substitution C A missense_variant R381S 1141C>A LUSC-US 19 6829837 6829837 single base substitution C A missense_variant R404S 1210C>A LUSC-US 19 6829837 6829837 single base substitution C A missense_variant R436S 1306C>A LUSC-US 19 6833552 6833552 single base substitution C G downstream_gene_variant LUSC-US 19 6833552 6833552 single base substitution C G exon_variant LUSC-US 19 6833552 6833552 single base substitution C G missense_variant Q445E 1333C>G LUSC-US 19 6833552 6833552 single base substitution C G missense_variant Q487E 1459C>G LUSC-US 19 6833552 6833552 single base substitution C G missense_variant Q510E 1528C>G LUSC-US 19 6833552 6833552 single base substitution C G missense_variant Q542E 1624C>G LUSC-US 19 6833552 6833552 single base substitution C G upstream_gene_variant LUSC-US 19 6853990 6853990 single base substitution G A missense_variant A692T 2074G>A LUSC-US 19 6853990 6853990 single base substitution G A missense_variant A734T 2200G>A LUSC-US 19 6853990 6853990 single base substitution G A missense_variant A757T 2269G>A LUSC-US 19 6853990 6853990 single base substitution G A missense_variant A767T 2299G>A LUSC-US 19 6853990 6853990 single base substitution G A missense_variant A789T 2365G>A LUSC-US 19 6854071 6854071 single base substitution G C missense_variant G719R 2155G>C LUSC-US 19 6854071 6854071 single base substitution G C missense_variant G761R 2281G>C LUSC-US 19 6854071 6854071 single base substitution G C missense_variant G784R 2350G>C LUSC-US 19 6854071 6854071 single base substitution G C missense_variant G794R 2380G>C LUSC-US 19 6854071 6854071 single base substitution G C missense_variant G816R 2446G>C MALY-DE 19 6773843 6773843 single base substitution T C intron_variant MALY-DE 19 6780924 6780924 single base substitution C A intron_variant MALY-DE 19 6780924 6780924 single base substitution C A upstream_gene_variant MALY-DE 19 6787585 6787585 insertion of <=200bp - ATTT intron_variant MALY-DE 19 6794139 6794139 single base substitution T C intron_variant MALY-DE 19 6799637 6799637 single base substitution A G intron_variant MALY-DE 19 6801987 6801987 single base substitution G C intron_variant MALY-DE 19 6802302 6802302 single base substitution G A intron_variant MALY-DE 19 6804602 6804602 single base substitution A T intron_variant MALY-DE 19 6809796 6809797 deletion of <=200bp AG - intron_variant MALY-DE 19 6824799 6824799 single base substitution C A intron_variant MALY-DE 19 6824799 6824799 single base substitution C A upstream_gene_variant MALY-DE 19 6831865 6831866 deletion of <=200bp GT - downstream_gene_variant MALY-DE 19 6831865 6831866 deletion of <=200bp GT - intron_variant MALY-DE 19 6831865 6831866 deletion of <=200bp GT - upstream_gene_variant MALY-DE 19 6832977 6832977 single base substitution C T downstream_gene_variant MALY-DE 19 6832977 6832977 single base substitution C T intron_variant MALY-DE 19 6832977 6832977 single base substitution C T upstream_gene_variant MALY-DE 19 6834560 6834560 single base substitution T C downstream_gene_variant MALY-DE 19 6834560 6834560 single base substitution T C intron_variant MALY-DE 19 6834560 6834560 single base substitution T C upstream_gene_variant MALY-DE 19 6837184 6837185 deletion of <=200bp TC - downstream_gene_variant MALY-DE 19 6837184 6837185 deletion of <=200bp TC - intron_variant MALY-DE 19 6842921 6842921 single base substitution G A intron_variant MALY-DE 19 6843018 6843018 single base substitution C T intron_variant MALY-DE 19 6853912 6853912 single base substitution G A intron_variant MALY-DE 19 6856461 6856461 single base substitution G A intron_variant MALY-DE 19 6856887 6856888 deletion of <=200bp GT - intron_variant MALY-DE 19 6859873 6859873 insertion of <=200bp - A downstream_gene_variant MELA-AU 19 6767842 6767842 single base substitution C T upstream_gene_variant MELA-AU 19 6768052 6768052 single base substitution C T upstream_gene_variant MELA-AU 19 6768252 6768252 single base substitution G A upstream_gene_variant MELA-AU 19 6768839 6768839 single base substitution C T upstream_gene_variant MELA-AU 19 6769010 6769010 single base substitution G A upstream_gene_variant MELA-AU 19 6769179 6769179 single base substitution C T upstream_gene_variant MELA-AU 19 6769291 6769291 single base substitution G A upstream_gene_variant MELA-AU 19 6769969 6769969 single base substitution G A upstream_gene_variant MELA-AU 19 6770130 6770130 single base substitution G A upstream_gene_variant MELA-AU 19 6770191 6770191 single base substitution C T upstream_gene_variant MELA-AU 19 6770545 6770545 single base substitution G A upstream_gene_variant MELA-AU 19 6770922 6770922 single base substitution G A upstream_gene_variant MELA-AU 19 6771142 6771142 single base substitution G A upstream_gene_variant MELA-AU 19 6771249 6771249 single base substitution G A upstream_gene_variant MELA-AU 19 6771260 6771260 single base substitution C T upstream_gene_variant MELA-AU 19 6771475 6771475 single base substitution G A upstream_gene_variant MELA-AU 19 6771576 6771576 single base substitution A G upstream_gene_variant MELA-AU 19 6771823 6771823 single base substitution G A upstream_gene_variant MELA-AU 19 6771843 6771843 single base substitution G A upstream_gene_variant MELA-AU 19 6771859 6771859 single base substitution G A upstream_gene_variant MELA-AU 19 6772645 6772645 single base substitution C T upstream_gene_variant MELA-AU 19 6772687 6772687 single base substitution G A upstream_gene_variant MELA-AU 19 6772945 6772945 single base substitution C T synonymous_variant L43L 127C>T MELA-AU 19 6772945 6772945 single base substitution C T upstream_gene_variant MELA-AU 19 6772992 6772992 single base substitution T C 5_prime_UTR_variant MELA-AU 19 6772992 6772992 single base substitution T C synonymous_variant R58R 174T>C MELA-AU 19 6773019 6773019 single base substitution C T synonymous_variant S2S 6C>T MELA-AU 19 6773019 6773019 single base substitution C T synonymous_variant S67S 201C>T MELA-AU 19 6773072 6773072 single base substitution C T intron_variant MELA-AU 19 6773087 6773087 single base substitution C T intron_variant MELA-AU 19 6773127 6773127 single base substitution G A intron_variant MELA-AU 19 6773247 6773247 single base substitution C T intron_variant MELA-AU 19 6773262 6773262 single base substitution G C intron_variant MELA-AU 19 6773322 6773322 single base substitution C T intron_variant MELA-AU 19 6773335 6773335 single base substitution C T intron_variant MELA-AU 19 6773475 6773475 single base substitution C T intron_variant MELA-AU 19 6773612 6773612 single base substitution G A intron_variant MELA-AU 19 6773691 6773691 single base substitution C T intron_variant MELA-AU 19 6773871 6773871 single base substitution G A intron_variant MELA-AU 19 6774030 6774030 single base substitution G A intron_variant MELA-AU 19 6774049 6774049 single base substitution G A intron_variant MELA-AU 19 6774197 6774197 single base substitution G A intron_variant MELA-AU 19 6774369 6774369 single base substitution G A intron_variant MELA-AU 19 6774526 6774526 single base substitution A G intron_variant MELA-AU 19 6774880 6774880 single base substitution C T intron_variant MELA-AU 19 6774970 6774970 single base substitution T C intron_variant MELA-AU 19 6774975 6774975 single base substitution C T intron_variant MELA-AU 19 6775035 6775035 single base substitution T G intron_variant MELA-AU 19 6775046 6775046 single base substitution G A intron_variant MELA-AU 19 6775077 6775077 single base substitution C T intron_variant MELA-AU 19 6775094 6775095 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 6775270 6775270 single base substitution C T intron_variant MELA-AU 19 6775333 6775333 single base substitution G A intron_variant MELA-AU 19 6775394 6775394 single base substitution G A intron_variant MELA-AU 19 6775420 6775420 single base substitution C T intron_variant MELA-AU 19 6775497 6775497 single base substitution G A intron_variant MELA-AU 19 6775615 6775615 single base substitution C T intron_variant MELA-AU 19 6775621 6775621 single base substitution C T intron_variant MELA-AU 19 6775633 6775633 single base substitution C T intron_variant MELA-AU 19 6775748 6775748 single base substitution G A intron_variant MELA-AU 19 6775749 6775749 single base substitution G A intron_variant MELA-AU 19 6775762 6775762 single base substitution G A intron_variant MELA-AU 19 6775806 6775806 single base substitution G A intron_variant MELA-AU 19 6775889 6775889 single base substitution T A intron_variant MELA-AU 19 6775918 6775918 single base substitution T A intron_variant MELA-AU 19 6776004 6776004 single base substitution C T intron_variant MELA-AU 19 6776132 6776132 single base substitution C T intron_variant MELA-AU 19 6776444 6776444 single base substitution C T intron_variant MELA-AU 19 6776528 6776528 single base substitution C T intron_variant MELA-AU 19 6776570 6776570 single base substitution A G intron_variant MELA-AU 19 6776595 6776595 single base substitution C T intron_variant MELA-AU 19 6776653 6776653 single base substitution G A intron_variant MELA-AU 19 6777069 6777069 single base substitution C T intron_variant MELA-AU 19 6777140 6777140 single base substitution C T intron_variant MELA-AU 19 6777208 6777208 single base substitution C T intron_variant MELA-AU 19 6777346 6777346 single base substitution G A intron_variant MELA-AU 19 6777347 6777347 single base substitution G A intron_variant MELA-AU 19 6777383 6777383 single base substitution G A intron_variant MELA-AU 19 6777543 6777543 single base substitution G A intron_variant MELA-AU 19 6777902 6777902 single base substitution C T intron_variant MELA-AU 19 6778035 6778035 single base substitution C T intron_variant MELA-AU 19 6778099 6778099 single base substitution C A intron_variant MELA-AU 19 6778168 6778168 single base substitution G A intron_variant MELA-AU 19 6778290 6778290 single base substitution G A intron_variant MELA-AU 19 6778470 6778470 single base substitution G A intron_variant MELA-AU 19 6778770 6778770 single base substitution T A intron_variant MELA-AU 19 6778997 6778997 single base substitution C T intron_variant MELA-AU 19 6779079 6779079 single base substitution C T intron_variant MELA-AU 19 6779580 6779581 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 6779580 6779581 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 6780198 6780198 single base substitution C T intron_variant MELA-AU 19 6780198 6780198 single base substitution C T upstream_gene_variant MELA-AU 19 6780404 6780404 single base substitution G A intron_variant MELA-AU 19 6780404 6780404 single base substitution G A upstream_gene_variant MELA-AU 19 6780895 6780895 single base substitution C T intron_variant MELA-AU 19 6780895 6780895 single base substitution C T upstream_gene_variant MELA-AU 19 6780962 6780962 single base substitution C T intron_variant MELA-AU 19 6780962 6780962 single base substitution C T upstream_gene_variant MELA-AU 19 6780983 6780983 single base substitution G A intron_variant MELA-AU 19 6780983 6780983 single base substitution G A upstream_gene_variant MELA-AU 19 6780986 6780986 single base substitution C T intron_variant MELA-AU 19 6780986 6780986 single base substitution C T upstream_gene_variant MELA-AU 19 6781074 6781074 single base substitution C T intron_variant MELA-AU 19 6781074 6781074 single base substitution C T upstream_gene_variant MELA-AU 19 6781452 6781452 single base substitution G A intron_variant MELA-AU 19 6781452 6781452 single base substitution G A upstream_gene_variant MELA-AU 19 6782063 6782063 single base substitution C T intron_variant MELA-AU 19 6782063 6782063 single base substitution C T upstream_gene_variant MELA-AU 19 6782794 6782794 single base substitution G A intron_variant MELA-AU 19 6782794 6782794 single base substitution G A upstream_gene_variant MELA-AU 19 6782807 6782807 single base substitution C T intron_variant MELA-AU 19 6782807 6782807 single base substitution C T upstream_gene_variant MELA-AU 19 6782895 6782895 single base substitution G A intron_variant MELA-AU 19 6782895 6782895 single base substitution G A upstream_gene_variant MELA-AU 19 6783046 6783046 single base substitution C T intron_variant MELA-AU 19 6783046 6783046 single base substitution C T upstream_gene_variant MELA-AU 19 6783118 6783118 single base substitution G A intron_variant MELA-AU 19 6783118 6783118 single base substitution G A upstream_gene_variant MELA-AU 19 6783184 6783184 single base substitution C T intron_variant MELA-AU 19 6783184 6783184 single base substitution C T upstream_gene_variant MELA-AU 19 6783187 6783187 single base substitution C T intron_variant MELA-AU 19 6783187 6783187 single base substitution C T upstream_gene_variant MELA-AU 19 6783329 6783329 single base substitution G A intron_variant MELA-AU 19 6783329 6783329 single base substitution G A upstream_gene_variant MELA-AU 19 6783549 6783549 single base substitution G A intron_variant MELA-AU 19 6783549 6783549 single base substitution G A upstream_gene_variant MELA-AU 19 6783560 6783560 single base substitution A T intron_variant MELA-AU 19 6783560 6783560 single base substitution A T upstream_gene_variant MELA-AU 19 6783690 6783690 single base substitution G A intron_variant MELA-AU 19 6783690 6783690 single base substitution G A upstream_gene_variant MELA-AU 19 6783720 6783720 single base substitution C T intron_variant MELA-AU 19 6783720 6783720 single base substitution C T upstream_gene_variant MELA-AU 19 6783955 6783955 single base substitution G A intron_variant MELA-AU 19 6783955 6783955 single base substitution G A upstream_gene_variant MELA-AU 19 6784062 6784062 single base substitution C T intron_variant MELA-AU 19 6784062 6784062 single base substitution C T upstream_gene_variant MELA-AU 19 6784179 6784179 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 19 6784179 6784179 single base substitution C T intron_variant MELA-AU 19 6784342 6784342 single base substitution G A intron_variant MELA-AU 19 6784395 6784395 single base substitution G A intron_variant MELA-AU 19 6784410 6784410 single base substitution G A intron_variant MELA-AU 19 6784507 6784507 single base substitution T A intron_variant MELA-AU 19 6784666 6784666 single base substitution A C intron_variant MELA-AU 19 6784903 6784903 single base substitution C T intron_variant MELA-AU 19 6785011 6785011 single base substitution C T intron_variant MELA-AU 19 6785761 6785761 single base substitution C T intron_variant MELA-AU 19 6785780 6785780 single base substitution C T intron_variant MELA-AU 19 6785973 6785973 single base substitution G A intron_variant MELA-AU 19 6785989 6785990 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 19 6786032 6786032 single base substitution C T intron_variant MELA-AU 19 6786144 6786144 single base substitution C T intron_variant MELA-AU 19 6786152 6786152 single base substitution G A intron_variant MELA-AU 19 6786424 6786424 single base substitution G A intron_variant MELA-AU 19 6786428 6786428 single base substitution C T intron_variant MELA-AU 19 6786495 6786495 single base substitution T G intron_variant MELA-AU 19 6786585 6786585 single base substitution A C intron_variant MELA-AU 19 6786609 6786609 single base substitution C T intron_variant MELA-AU 19 6786850 6786850 single base substitution G A intron_variant MELA-AU 19 6786899 6786899 single base substitution C T intron_variant MELA-AU 19 6787159 6787159 single base substitution C T intron_variant MELA-AU 19 6787194 6787194 single base substitution T A intron_variant MELA-AU 19 6787275 6787275 single base substitution C T intron_variant MELA-AU 19 6787490 6787490 single base substitution C T intron_variant MELA-AU 19 6787547 6787547 single base substitution C T intron_variant MELA-AU 19 6788037 6788037 single base substitution G A intron_variant MELA-AU 19 6788109 6788109 single base substitution A C intron_variant MELA-AU 19 6788327 6788327 single base substitution A G intron_variant MELA-AU 19 6788353 6788353 single base substitution C T intron_variant MELA-AU 19 6788421 6788421 single base substitution T C intron_variant MELA-AU 19 6788459 6788459 single base substitution G A intron_variant MELA-AU 19 6788581 6788581 single base substitution T C intron_variant MELA-AU 19 6788608 6788608 single base substitution G A intron_variant MELA-AU 19 6788698 6788698 single base substitution C T intron_variant MELA-AU 19 6789225 6789225 single base substitution G A intron_variant MELA-AU 19 6789367 6789367 single base substitution C T intron_variant MELA-AU 19 6789567 6789567 single base substitution C T intron_variant MELA-AU 19 6789731 6789731 single base substitution C T intron_variant MELA-AU 19 6789836 6789836 single base substitution C G intron_variant MELA-AU 19 6790006 6790006 single base substitution G A intron_variant MELA-AU 19 6790143 6790143 single base substitution C T intron_variant MELA-AU 19 6790168 6790168 single base substitution G A intron_variant MELA-AU 19 6790344 6790344 single base substitution C T intron_variant MELA-AU 19 6790406 6790406 single base substitution C T intron_variant MELA-AU 19 6790491 6790491 single base substitution C T intron_variant MELA-AU 19 6790573 6790573 single base substitution C T intron_variant MELA-AU 19 6790582 6790582 single base substitution G A intron_variant MELA-AU 19 6790771 6790771 single base substitution C T intron_variant MELA-AU 19 6790964 6790964 single base substitution C T intron_variant MELA-AU 19 6791111 6791111 single base substitution T A intron_variant MELA-AU 19 6791171 6791171 single base substitution C T intron_variant MELA-AU 19 6791189 6791189 single base substitution G A intron_variant MELA-AU 19 6791506 6791506 single base substitution C T intron_variant MELA-AU 19 6791510 6791510 single base substitution G A intron_variant MELA-AU 19 6791571 6791571 single base substitution C T intron_variant MELA-AU 19 6791619 6791619 single base substitution C T intron_variant MELA-AU 19 6791764 6791764 single base substitution G A intron_variant MELA-AU 19 6791766 6791766 single base substitution G A intron_variant MELA-AU 19 6791769 6791769 single base substitution C T intron_variant MELA-AU 19 6791910 6791910 single base substitution G A intron_variant MELA-AU 19 6791931 6791931 single base substitution G A intron_variant MELA-AU 19 6791936 6791936 single base substitution G A intron_variant MELA-AU 19 6792024 6792025 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 6792034 6792034 single base substitution G A intron_variant MELA-AU 19 6792094 6792094 single base substitution G A intron_variant MELA-AU 19 6792314 6792314 single base substitution C T intron_variant MELA-AU 19 6792404 6792404 single base substitution G A intron_variant MELA-AU 19 6792486 6792486 single base substitution G A intron_variant MELA-AU 19 6792640 6792640 single base substitution C T intron_variant MELA-AU 19 6792948 6792948 single base substitution C T intron_variant MELA-AU 19 6792949 6792949 single base substitution C T intron_variant MELA-AU 19 6792973 6792973 single base substitution G A intron_variant MELA-AU 19 6793002 6793002 single base substitution C T intron_variant MELA-AU 19 6793094 6793094 single base substitution C T intron_variant MELA-AU 19 6793146 6793146 single base substitution C T intron_variant MELA-AU 19 6793255 6793255 single base substitution G A intron_variant MELA-AU 19 6793274 6793274 single base substitution G A intron_variant MELA-AU 19 6793328 6793328 single base substitution G A intron_variant MELA-AU 19 6793350 6793350 deletion of <=200bp G - intron_variant MELA-AU 19 6793393 6793393 single base substitution C T intron_variant MELA-AU 19 6793605 6793605 single base substitution G A intron_variant MELA-AU 19 6793836 6793836 single base substitution C T intron_variant MELA-AU 19 6794024 6794024 single base substitution G A intron_variant MELA-AU 19 6794144 6794144 single base substitution G A intron_variant MELA-AU 19 6794235 6794235 single base substitution C T intron_variant MELA-AU 19 6794278 6794278 single base substitution G A intron_variant MELA-AU 19 6794702 6794702 single base substitution C T intron_variant MELA-AU 19 6795173 6795173 single base substitution C T intron_variant MELA-AU 19 6795258 6795258 single base substitution G T intron_variant MELA-AU 19 6795305 6795305 single base substitution G C intron_variant MELA-AU 19 6795394 6795394 single base substitution G A intron_variant MELA-AU 19 6796009 6796009 single base substitution C T intron_variant MELA-AU 19 6796076 6796076 single base substitution C T intron_variant MELA-AU 19 6796096 6796096 single base substitution G A intron_variant MELA-AU 19 6796117 6796117 single base substitution C T intron_variant MELA-AU 19 6796145 6796146 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 6796190 6796190 single base substitution C T intron_variant MELA-AU 19 6796880 6796880 single base substitution G C intron_variant MELA-AU 19 6797091 6797091 single base substitution A G intron_variant MELA-AU 19 6797125 6797125 single base substitution C T intron_variant MELA-AU 19 6797140 6797140 single base substitution G A intron_variant MELA-AU 19 6797668 6797668 single base substitution C T intron_variant MELA-AU 19 6797850 6797850 single base substitution C T intron_variant MELA-AU 19 6798142 6798142 single base substitution G A intron_variant MELA-AU 19 6798200 6798200 single base substitution A T intron_variant MELA-AU 19 6798275 6798275 single base substitution G A intron_variant MELA-AU 19 6798390 6798390 single base substitution C T intron_variant MELA-AU 19 6799002 6799002 single base substitution C T intron_variant MELA-AU 19 6799083 6799083 single base substitution C T intron_variant MELA-AU 19 6799116 6799116 single base substitution C T intron_variant MELA-AU 19 6799148 6799148 single base substitution C T intron_variant MELA-AU 19 6799164 6799164 single base substitution G A intron_variant MELA-AU 19 6799247 6799247 single base substitution C T intron_variant MELA-AU 19 6799273 6799273 single base substitution G A intron_variant MELA-AU 19 6799277 6799277 single base substitution C T intron_variant MELA-AU 19 6799304 6799304 single base substitution G A intron_variant MELA-AU 19 6799648 6799648 single base substitution T C intron_variant MELA-AU 19 6799651 6799651 single base substitution C T intron_variant MELA-AU 19 6799652 6799652 single base substitution C A intron_variant MELA-AU 19 6799976 6799977 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 19 6800120 6800120 single base substitution C T intron_variant MELA-AU 19 6800187 6800187 single base substitution C T intron_variant MELA-AU 19 6800277 6800277 single base substitution C T intron_variant MELA-AU 19 6800401 6800401 single base substitution A G intron_variant MELA-AU 19 6800572 6800572 single base substitution C T intron_variant MELA-AU 19 6800742 6800742 single base substitution C T intron_variant MELA-AU 19 6800870 6800870 single base substitution T C intron_variant MELA-AU 19 6800965 6800965 single base substitution G A intron_variant MELA-AU 19 6801439 6801439 single base substitution G A intron_variant MELA-AU 19 6801450 6801450 single base substitution G A intron_variant MELA-AU 19 6801696 6801696 single base substitution G A intron_variant MELA-AU 19 6801697 6801697 single base substitution C T intron_variant MELA-AU 19 6801703 6801703 single base substitution G A intron_variant MELA-AU 19 6801788 6801788 single base substitution C T intron_variant MELA-AU 19 6801980 6801980 single base substitution C T intron_variant MELA-AU 19 6801994 6801994 single base substitution G A intron_variant MELA-AU 19 6802032 6802032 single base substitution G A intron_variant MELA-AU 19 6802387 6802387 single base substitution C T intron_variant MELA-AU 19 6802587 6802587 single base substitution C T intron_variant MELA-AU 19 6802675 6802675 single base substitution C T intron_variant MELA-AU 19 6802749 6802749 single base substitution T C intron_variant MELA-AU 19 6803061 6803061 single base substitution G A intron_variant MELA-AU 19 6803140 6803140 single base substitution G A intron_variant MELA-AU 19 6803428 6803428 single base substitution G T intron_variant MELA-AU 19 6804255 6804255 single base substitution C T intron_variant MELA-AU 19 6804537 6804537 single base substitution C T intron_variant MELA-AU 19 6804697 6804697 single base substitution G A intron_variant MELA-AU 19 6804728 6804728 single base substitution C T intron_variant MELA-AU 19 6804759 6804759 single base substitution G A intron_variant MELA-AU 19 6804769 6804769 single base substitution C T intron_variant MELA-AU 19 6804956 6804956 single base substitution G A intron_variant MELA-AU 19 6805095 6805095 single base substitution C T intron_variant MELA-AU 19 6805125 6805125 single base substitution C T intron_variant MELA-AU 19 6805184 6805184 single base substitution C T intron_variant MELA-AU 19 6805233 6805233 single base substitution C T intron_variant MELA-AU 19 6805254 6805254 single base substitution G A intron_variant MELA-AU 19 6805318 6805318 single base substitution C T intron_variant MELA-AU 19 6805912 6805912 single base substitution G A intron_variant MELA-AU 19 6805974 6805974 single base substitution A G intron_variant MELA-AU 19 6806161 6806161 single base substitution G A intron_variant MELA-AU 19 6806359 6806359 single base substitution G A intron_variant MELA-AU 19 6806439 6806439 single base substitution T A intron_variant MELA-AU 19 6806693 6806693 single base substitution G A intron_variant MELA-AU 19 6806743 6806743 single base substitution G A intron_variant MELA-AU 19 6806774 6806774 single base substitution G A intron_variant MELA-AU 19 6806914 6806914 single base substitution G C intron_variant MELA-AU 19 6806973 6806973 single base substitution G A intron_variant MELA-AU 19 6807142 6807142 single base substitution C T intron_variant MELA-AU 19 6807347 6807347 single base substitution C T intron_variant MELA-AU 19 6807364 6807364 single base substitution C T intron_variant MELA-AU 19 6807386 6807386 single base substitution G A intron_variant MELA-AU 19 6807415 6807415 single base substitution G A intron_variant MELA-AU 19 6807650 6807650 single base substitution G A intron_variant MELA-AU 19 6807652 6807652 single base substitution G A intron_variant MELA-AU 19 6807896 6807896 single base substitution G A intron_variant MELA-AU 19 6807915 6807915 single base substitution C T intron_variant MELA-AU 19 6807928 6807928 single base substitution G A intron_variant MELA-AU 19 6808482 6808482 single base substitution T A intron_variant MELA-AU 19 6808654 6808654 single base substitution G A intron_variant MELA-AU 19 6808655 6808655 single base substitution G A intron_variant MELA-AU 19 6808672 6808672 single base substitution C T intron_variant MELA-AU 19 6808682 6808682 single base substitution T A intron_variant MELA-AU 19 6808744 6808744 single base substitution G A intron_variant MELA-AU 19 6808808 6808808 single base substitution G A intron_variant MELA-AU 19 6808876 6808876 single base substitution T G intron_variant MELA-AU 19 6808931 6808931 single base substitution C T intron_variant MELA-AU 19 6809067 6809067 single base substitution G A intron_variant MELA-AU 19 6809093 6809093 single base substitution T A intron_variant MELA-AU 19 6809095 6809095 single base substitution T G intron_variant MELA-AU 19 6809247 6809247 single base substitution G A intron_variant MELA-AU 19 6809294 6809294 single base substitution G A intron_variant MELA-AU 19 6809304 6809304 single base substitution G A intron_variant MELA-AU 19 6809343 6809343 single base substitution C T intron_variant MELA-AU 19 6809395 6809395 single base substitution C T intron_variant MELA-AU 19 6809474 6809474 single base substitution G C intron_variant MELA-AU 19 6809487 6809487 single base substitution G A intron_variant MELA-AU 19 6809614 6809614 single base substitution T C intron_variant MELA-AU 19 6809641 6809641 single base substitution G A intron_variant MELA-AU 19 6809692 6809692 single base substitution G A intron_variant MELA-AU 19 6809719 6809719 single base substitution G A intron_variant MELA-AU 19 6809759 6809760 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 19 6809890 6809890 single base substitution C T intron_variant MELA-AU 19 6810074 6810074 single base substitution C T intron_variant MELA-AU 19 6810310 6810310 single base substitution C T intron_variant MELA-AU 19 6810383 6810383 single base substitution T A intron_variant MELA-AU 19 6810389 6810389 single base substitution C T intron_variant MELA-AU 19 6810483 6810483 single base substitution G A intron_variant MELA-AU 19 6810501 6810501 single base substitution G A intron_variant MELA-AU 19 6810861 6810861 single base substitution G A intron_variant MELA-AU 19 6810907 6810907 single base substitution G A intron_variant MELA-AU 19 6810953 6810953 single base substitution G A intron_variant MELA-AU 19 6811110 6811110 single base substitution G A intron_variant MELA-AU 19 6811267 6811267 single base substitution G A intron_variant MELA-AU 19 6811272 6811272 single base substitution C T intron_variant MELA-AU 19 6811280 6811280 single base substitution C T intron_variant MELA-AU 19 6811404 6811404 single base substitution C T intron_variant MELA-AU 19 6811456 6811456 single base substitution C T intron_variant MELA-AU 19 6811491 6811492 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 6811501 6811501 single base substitution C T intron_variant MELA-AU 19 6811617 6811617 single base substitution T C intron_variant MELA-AU 19 6811629 6811629 single base substitution A T intron_variant MELA-AU 19 6811899 6811899 single base substitution G A intron_variant MELA-AU 19 6811911 6811911 single base substitution C T intron_variant MELA-AU 19 6811991 6811991 single base substitution G A intron_variant MELA-AU 19 6812006 6812006 single base substitution G A intron_variant MELA-AU 19 6812163 6812163 single base substitution C T intron_variant MELA-AU 19 6812390 6812390 single base substitution G A intron_variant MELA-AU 19 6812506 6812506 single base substitution A T intron_variant MELA-AU 19 6812515 6812515 single base substitution A C intron_variant MELA-AU 19 6812563 6812563 single base substitution C T intron_variant MELA-AU 19 6812635 6812635 single base substitution C T intron_variant MELA-AU 19 6812655 6812655 single base substitution C T intron_variant MELA-AU 19 6812674 6812674 single base substitution G A intron_variant MELA-AU 19 6812793 6812793 single base substitution G A intron_variant MELA-AU 19 6812820 6812820 single base substitution G A intron_variant MELA-AU 19 6812925 6812925 single base substitution A T intron_variant MELA-AU 19 6813116 6813116 single base substitution G C intron_variant MELA-AU 19 6813138 6813138 single base substitution G A intron_variant MELA-AU 19 6813181 6813181 single base substitution G A intron_variant MELA-AU 19 6813441 6813441 single base substitution G T intron_variant MELA-AU 19 6813615 6813615 single base substitution C T intron_variant MELA-AU 19 6813718 6813718 single base substitution G A intron_variant MELA-AU 19 6813753 6813753 single base substitution G A intron_variant MELA-AU 19 6813954 6813954 single base substitution C T intron_variant MELA-AU 19 6813998 6813998 single base substitution G A intron_variant MELA-AU 19 6814239 6814239 single base substitution C T intron_variant MELA-AU 19 6814361 6814361 single base substitution C T intron_variant MELA-AU 19 6814385 6814385 single base substitution C T intron_variant MELA-AU 19 6814863 6814863 single base substitution C T intron_variant MELA-AU 19 6814964 6814964 single base substitution C T intron_variant MELA-AU 19 6815057 6815057 single base substitution A T intron_variant MELA-AU 19 6815440 6815440 single base substitution C A intron_variant MELA-AU 19 6815443 6815443 single base substitution C T intron_variant MELA-AU 19 6815545 6815545 single base substitution C T intron_variant MELA-AU 19 6815961 6815961 single base substitution A C intron_variant MELA-AU 19 6816425 6816425 single base substitution G A intron_variant MELA-AU 19 6816649 6816649 single base substitution C A intron_variant MELA-AU 19 6816765 6816765 single base substitution C T intron_variant MELA-AU 19 6816969 6816969 single base substitution C T intron_variant MELA-AU 19 6817193 6817193 single base substitution G A intron_variant MELA-AU 19 6817338 6817338 single base substitution G A intron_variant MELA-AU 19 6817728 6817728 single base substitution C T intron_variant MELA-AU 19 6817728 6817728 single base substitution C T upstream_gene_variant MELA-AU 19 6817732 6817732 single base substitution C T intron_variant MELA-AU 19 6817732 6817732 single base substitution C T upstream_gene_variant MELA-AU 19 6818217 6818217 single base substitution G A intron_variant MELA-AU 19 6818217 6818217 single base substitution G A upstream_gene_variant MELA-AU 19 6818291 6818291 single base substitution G A intron_variant MELA-AU 19 6818291 6818291 single base substitution G A upstream_gene_variant MELA-AU 19 6818351 6818351 single base substitution G A intron_variant MELA-AU 19 6818351 6818351 single base substitution G A upstream_gene_variant MELA-AU 19 6818422 6818422 single base substitution C T intron_variant MELA-AU 19 6818422 6818422 single base substitution C T upstream_gene_variant MELA-AU 19 6818538 6818538 single base substitution G A intron_variant MELA-AU 19 6818538 6818538 single base substitution G A upstream_gene_variant MELA-AU 19 6818578 6818578 single base substitution C T intron_variant MELA-AU 19 6818578 6818578 single base substitution C T upstream_gene_variant MELA-AU 19 6818736 6818736 single base substitution T G intron_variant MELA-AU 19 6818736 6818736 single base substitution T G upstream_gene_variant MELA-AU 19 6818809 6818809 single base substitution C T intron_variant MELA-AU 19 6818809 6818809 single base substitution C T upstream_gene_variant MELA-AU 19 6819073 6819073 single base substitution G A intron_variant MELA-AU 19 6819073 6819073 single base substitution G A upstream_gene_variant MELA-AU 19 6819081 6819081 single base substitution G A intron_variant MELA-AU 19 6819081 6819081 single base substitution G A upstream_gene_variant MELA-AU 19 6819102 6819102 single base substitution G A intron_variant MELA-AU 19 6819102 6819102 single base substitution G A upstream_gene_variant MELA-AU 19 6819127 6819127 single base substitution C T intron_variant MELA-AU 19 6819127 6819127 single base substitution C T upstream_gene_variant MELA-AU 19 6819139 6819139 single base substitution G A intron_variant MELA-AU 19 6819139 6819139 single base substitution G A upstream_gene_variant MELA-AU 19 6819143 6819143 single base substitution G A intron_variant MELA-AU 19 6819143 6819143 single base substitution G A upstream_gene_variant MELA-AU 19 6819329 6819329 single base substitution G A intron_variant MELA-AU 19 6819329 6819329 single base substitution G A upstream_gene_variant MELA-AU 19 6819391 6819391 single base substitution G A intron_variant MELA-AU 19 6819391 6819391 single base substitution G A upstream_gene_variant MELA-AU 19 6819664 6819664 single base substitution A G intron_variant MELA-AU 19 6819664 6819664 single base substitution A G upstream_gene_variant MELA-AU 19 6819713 6819713 single base substitution G A intron_variant MELA-AU 19 6819713 6819713 single base substitution G A upstream_gene_variant MELA-AU 19 6819875 6819875 single base substitution G A intron_variant MELA-AU 19 6819875 6819875 single base substitution G A upstream_gene_variant MELA-AU 19 6819896 6819896 single base substitution T C intron_variant MELA-AU 19 6819896 6819896 single base substitution T C upstream_gene_variant MELA-AU 19 6820207 6820207 single base substitution G A intron_variant MELA-AU 19 6820207 6820207 single base substitution G A upstream_gene_variant MELA-AU 19 6820246 6820246 single base substitution G A intron_variant MELA-AU 19 6820246 6820246 single base substitution G A upstream_gene_variant MELA-AU 19 6820337 6820337 single base substitution C T intron_variant MELA-AU 19 6820337 6820337 single base substitution C T upstream_gene_variant MELA-AU 19 6820612 6820612 single base substitution C T intron_variant MELA-AU 19 6820612 6820612 single base substitution C T upstream_gene_variant MELA-AU 19 6820632 6820632 single base substitution C T intron_variant MELA-AU 19 6820632 6820632 single base substitution C T upstream_gene_variant MELA-AU 19 6820671 6820671 single base substitution C T intron_variant MELA-AU 19 6820671 6820671 single base substitution C T upstream_gene_variant MELA-AU 19 6820742 6820742 single base substitution C T synonymous_variant F13F 39C>T MELA-AU 19 6820742 6820742 single base substitution C T synonymous_variant F23F 69C>T MELA-AU 19 6820742 6820742 single base substitution C T synonymous_variant F78F 234C>T MELA-AU 19 6820742 6820742 single base substitution C T upstream_gene_variant MELA-AU 19 6820790 6820790 single base substitution C T synonymous_variant F29F 87C>T MELA-AU 19 6820790 6820790 single base substitution C T synonymous_variant F39F 117C>T MELA-AU 19 6820790 6820790 single base substitution C T synonymous_variant F94F 282C>T MELA-AU 19 6820790 6820790 single base substitution C T upstream_gene_variant MELA-AU 19 6820971 6820971 single base substitution G A intron_variant MELA-AU 19 6820971 6820971 single base substitution G A upstream_gene_variant MELA-AU 19 6821065 6821065 single base substitution G A intron_variant MELA-AU 19 6821065 6821065 single base substitution G A upstream_gene_variant MELA-AU 19 6821320 6821320 single base substitution G A intron_variant MELA-AU 19 6821320 6821320 single base substitution G A upstream_gene_variant MELA-AU 19 6821341 6821341 single base substitution G A intron_variant MELA-AU 19 6821341 6821341 single base substitution G A upstream_gene_variant MELA-AU 19 6821490 6821491 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 6821490 6821491 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 6821623 6821623 single base substitution C T intron_variant MELA-AU 19 6821623 6821623 single base substitution C T upstream_gene_variant MELA-AU 19 6821681 6821681 single base substitution A C synonymous_variant R124R 370A>C MELA-AU 19 6821681 6821681 single base substitution A C synonymous_variant R59R 175A>C MELA-AU 19 6821681 6821681 single base substitution A C synonymous_variant R69R 205A>C MELA-AU 19 6821681 6821681 single base substitution A C upstream_gene_variant MELA-AU 19 6821803 6821803 single base substitution C T missense_variant P128S 382C>T MELA-AU 19 6821803 6821803 single base substitution C T missense_variant P63S 187C>T MELA-AU 19 6821803 6821803 single base substitution C T missense_variant P73S 217C>T MELA-AU 19 6821803 6821803 single base substitution C T upstream_gene_variant MELA-AU 19 6821834 6821834 single base substitution A G missense_variant D138G 413A>G MELA-AU 19 6821834 6821834 single base substitution A G missense_variant D73G 218A>G MELA-AU 19 6821834 6821834 single base substitution A G missense_variant D83G 248A>G MELA-AU 19 6821834 6821834 single base substitution A G upstream_gene_variant MELA-AU 19 6821948 6821948 single base substitution T C intron_variant MELA-AU 19 6821948 6821948 single base substitution T C upstream_gene_variant MELA-AU 19 6821954 6821954 single base substitution C T intron_variant MELA-AU 19 6821954 6821954 single base substitution C T upstream_gene_variant MELA-AU 19 6821958 6821958 single base substitution G A intron_variant MELA-AU 19 6821958 6821958 single base substitution G A upstream_gene_variant MELA-AU 19 6822098 6822098 single base substitution G A intron_variant MELA-AU 19 6822098 6822098 single base substitution G A upstream_gene_variant MELA-AU 19 6822099 6822099 single base substitution G A intron_variant MELA-AU 19 6822099 6822099 single base substitution G A upstream_gene_variant MELA-AU 19 6822112 6822112 single base substitution C T intron_variant MELA-AU 19 6822112 6822112 single base substitution C T upstream_gene_variant MELA-AU 19 6822141 6822141 single base substitution C T intron_variant MELA-AU 19 6822141 6822141 single base substitution C T upstream_gene_variant MELA-AU 19 6822283 6822283 single base substitution G A synonymous_variant E102E 306G>A MELA-AU 19 6822283 6822283 single base substitution G A synonymous_variant E112E 336G>A MELA-AU 19 6822283 6822283 single base substitution G A synonymous_variant E167E 501G>A MELA-AU 19 6822283 6822283 single base substitution G A upstream_gene_variant MELA-AU 19 6822287 6822287 single base substitution G A missense_variant E104K 310G>A MELA-AU 19 6822287 6822287 single base substitution G A missense_variant E114K 340G>A MELA-AU 19 6822287 6822287 single base substitution G A missense_variant E169K 505G>A MELA-AU 19 6822287 6822287 single base substitution G A upstream_gene_variant MELA-AU 19 6822355 6822355 single base substitution G A intron_variant MELA-AU 19 6822355 6822355 single base substitution G A upstream_gene_variant MELA-AU 19 6822382 6822382 single base substitution G T intron_variant MELA-AU 19 6822382 6822382 single base substitution G T upstream_gene_variant MELA-AU 19 6822471 6822471 single base substitution G A exon_variant MELA-AU 19 6822471 6822471 single base substitution G A intron_variant MELA-AU 19 6822471 6822471 single base substitution G A synonymous_variant R145R 435G>A MELA-AU 19 6822471 6822471 single base substitution G A synonymous_variant R200R 600G>A MELA-AU 19 6822625 6822625 single base substitution C T intron_variant MELA-AU 19 6822648 6822648 single base substitution C T intron_variant MELA-AU 19 6822667 6822667 single base substitution T A intron_variant MELA-AU 19 6822909 6822909 single base substitution G A intron_variant MELA-AU 19 6823133 6823133 single base substitution C T intron_variant MELA-AU 19 6823164 6823164 single base substitution T A intron_variant MELA-AU 19 6823259 6823260 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 6823304 6823304 single base substitution T A intron_variant MELA-AU 19 6823356 6823356 single base substitution C T intron_variant MELA-AU 19 6823356 6823356 single base substitution C T upstream_gene_variant MELA-AU 19 6823357 6823357 single base substitution G A intron_variant MELA-AU 19 6823357 6823357 single base substitution G A upstream_gene_variant MELA-AU 19 6823561 6823561 single base substitution C T intron_variant MELA-AU 19 6823561 6823561 single base substitution C T upstream_gene_variant MELA-AU 19 6823572 6823572 single base substitution G T intron_variant MELA-AU 19 6823572 6823572 single base substitution G T upstream_gene_variant MELA-AU 19 6823706 6823706 single base substitution C T intron_variant MELA-AU 19 6823706 6823706 single base substitution C T upstream_gene_variant MELA-AU 19 6824100 6824100 single base substitution C T intron_variant MELA-AU 19 6824100 6824100 single base substitution C T upstream_gene_variant MELA-AU 19 6824269 6824269 single base substitution C T intron_variant MELA-AU 19 6824269 6824269 single base substitution C T upstream_gene_variant MELA-AU 19 6824330 6824330 single base substitution C T intron_variant MELA-AU 19 6824330 6824330 single base substitution C T upstream_gene_variant MELA-AU 19 6824401 6824401 single base substitution G A intron_variant MELA-AU 19 6824401 6824401 single base substitution G A upstream_gene_variant MELA-AU 19 6824533 6824533 single base substitution G A intron_variant MELA-AU 19 6824533 6824533 single base substitution G A upstream_gene_variant MELA-AU 19 6824631 6824631 single base substitution C T intron_variant MELA-AU 19 6824631 6824631 single base substitution C T upstream_gene_variant MELA-AU 19 6824665 6824665 single base substitution C T intron_variant MELA-AU 19 6824665 6824665 single base substitution C T upstream_gene_variant MELA-AU 19 6824783 6824783 single base substitution C T intron_variant MELA-AU 19 6824783 6824783 single base substitution C T upstream_gene_variant MELA-AU 19 6824798 6824798 single base substitution C T intron_variant MELA-AU 19 6824798 6824798 single base substitution C T upstream_gene_variant MELA-AU 19 6825007 6825007 single base substitution G A intron_variant MELA-AU 19 6825007 6825007 single base substitution G A upstream_gene_variant MELA-AU 19 6825043 6825043 single base substitution C T intron_variant MELA-AU 19 6825043 6825043 single base substitution C T upstream_gene_variant MELA-AU 19 6825144 6825144 single base substitution G A intron_variant MELA-AU 19 6825144 6825144 single base substitution G A upstream_gene_variant MELA-AU 19 6825201 6825201 single base substitution C A intron_variant MELA-AU 19 6825201 6825201 single base substitution C A upstream_gene_variant MELA-AU 19 6825211 6825211 single base substitution G A intron_variant MELA-AU 19 6825211 6825211 single base substitution G A upstream_gene_variant MELA-AU 19 6825228 6825228 single base substitution G A intron_variant MELA-AU 19 6825228 6825228 single base substitution G A upstream_gene_variant MELA-AU 19 6825303 6825303 single base substitution C T intron_variant MELA-AU 19 6825303 6825303 single base substitution C T upstream_gene_variant MELA-AU 19 6825340 6825340 single base substitution C T exon_variant MELA-AU 19 6825340 6825340 single base substitution C T synonymous_variant F153F 459C>T MELA-AU 19 6825340 6825340 single base substitution C T synonymous_variant F195F 585C>T MELA-AU 19 6825340 6825340 single base substitution C T synonymous_variant F218F 654C>T MELA-AU 19 6825340 6825340 single base substitution C T synonymous_variant F250F 750C>T MELA-AU 19 6825340 6825340 single base substitution C T upstream_gene_variant MELA-AU 19 6825484 6825484 single base substitution A T intron_variant MELA-AU 19 6825484 6825484 single base substitution A T upstream_gene_variant MELA-AU 19 6825516 6825516 single base substitution G A intron_variant MELA-AU 19 6825516 6825516 single base substitution G A upstream_gene_variant MELA-AU 19 6825546 6825546 single base substitution G A intron_variant MELA-AU 19 6825546 6825546 single base substitution G A upstream_gene_variant MELA-AU 19 6825569 6825569 single base substitution C T intron_variant MELA-AU 19 6825569 6825569 single base substitution C T upstream_gene_variant MELA-AU 19 6825610 6825610 single base substitution C T intron_variant MELA-AU 19 6825610 6825610 single base substitution C T upstream_gene_variant MELA-AU 19 6825857 6825857 single base substitution G A intron_variant MELA-AU 19 6825857 6825857 single base substitution G A upstream_gene_variant MELA-AU 19 6825873 6825873 single base substitution C T intron_variant MELA-AU 19 6825873 6825873 single base substitution C T upstream_gene_variant MELA-AU 19 6825949 6825949 single base substitution C T intron_variant MELA-AU 19 6825949 6825949 single base substitution C T upstream_gene_variant MELA-AU 19 6826047 6826047 single base substitution C T intron_variant MELA-AU 19 6826047 6826047 single base substitution C T upstream_gene_variant MELA-AU 19 6826263 6826263 single base substitution C T intron_variant MELA-AU 19 6826263 6826263 single base substitution C T upstream_gene_variant MELA-AU 19 6826286 6826286 single base substitution T C intron_variant MELA-AU 19 6826286 6826286 single base substitution T C upstream_gene_variant MELA-AU 19 6826372 6826372 single base substitution T A intron_variant MELA-AU 19 6826372 6826372 single base substitution T A upstream_gene_variant MELA-AU 19 6826461 6826461 single base substitution G C intron_variant MELA-AU 19 6826461 6826461 single base substitution G C upstream_gene_variant MELA-AU 19 6826525 6826525 single base substitution C T intron_variant MELA-AU 19 6826525 6826525 single base substitution C T upstream_gene_variant MELA-AU 19 6826530 6826530 single base substitution C T intron_variant MELA-AU 19 6826530 6826530 single base substitution C T upstream_gene_variant MELA-AU 19 6826730 6826730 single base substitution C T exon_variant MELA-AU 19 6826730 6826730 single base substitution C T splice_region_variant MELA-AU 19 6826730 6826730 single base substitution C T upstream_gene_variant MELA-AU 19 6826764 6826764 single base substitution C T exon_variant MELA-AU 19 6826764 6826764 single base substitution C T intron_variant MELA-AU 19 6826764 6826764 single base substitution C T upstream_gene_variant MELA-AU 19 6826771 6826771 single base substitution C T exon_variant MELA-AU 19 6826771 6826771 single base substitution C T intron_variant MELA-AU 19 6826771 6826771 single base substitution C T upstream_gene_variant MELA-AU 19 6827039 6827039 single base substitution C T exon_variant MELA-AU 19 6827039 6827039 single base substitution C T intron_variant MELA-AU 19 6827039 6827039 single base substitution C T upstream_gene_variant MELA-AU 19 6827102 6827102 single base substitution G A exon_variant MELA-AU 19 6827102 6827102 single base substitution G A intron_variant MELA-AU 19 6827102 6827102 single base substitution G A upstream_gene_variant MELA-AU 19 6827171 6827171 single base substitution G A downstream_gene_variant MELA-AU 19 6827171 6827171 single base substitution G A intron_variant MELA-AU 19 6827171 6827171 single base substitution G A upstream_gene_variant MELA-AU 19 6827251 6827251 single base substitution C T downstream_gene_variant MELA-AU 19 6827251 6827251 single base substitution C T intron_variant MELA-AU 19 6827251 6827251 single base substitution C T upstream_gene_variant MELA-AU 19 6827320 6827320 single base substitution C T downstream_gene_variant MELA-AU 19 6827320 6827320 single base substitution C T intron_variant MELA-AU 19 6827320 6827320 single base substitution C T upstream_gene_variant MELA-AU 19 6827396 6827396 single base substitution C T downstream_gene_variant MELA-AU 19 6827396 6827396 single base substitution C T intron_variant MELA-AU 19 6827396 6827396 single base substitution C T upstream_gene_variant MELA-AU 19 6827589 6827589 single base substitution C T downstream_gene_variant MELA-AU 19 6827589 6827589 single base substitution C T intron_variant MELA-AU 19 6827589 6827589 single base substitution C T upstream_gene_variant MELA-AU 19 6827658 6827658 single base substitution G A downstream_gene_variant MELA-AU 19 6827658 6827658 single base substitution G A intron_variant MELA-AU 19 6827658 6827658 single base substitution G A upstream_gene_variant MELA-AU 19 6827659 6827659 single base substitution G A downstream_gene_variant MELA-AU 19 6827659 6827659 single base substitution G A intron_variant MELA-AU 19 6827659 6827659 single base substitution G A upstream_gene_variant MELA-AU 19 6827877 6827877 single base substitution C T downstream_gene_variant MELA-AU 19 6827877 6827877 single base substitution C T intron_variant MELA-AU 19 6827877 6827877 single base substitution C T upstream_gene_variant MELA-AU 19 6827922 6827922 single base substitution C T downstream_gene_variant MELA-AU 19 6827922 6827922 single base substitution C T intron_variant MELA-AU 19 6827922 6827922 single base substitution C T upstream_gene_variant MELA-AU 19 6827969 6827969 single base substitution C T downstream_gene_variant MELA-AU 19 6827969 6827969 single base substitution C T intron_variant MELA-AU 19 6827969 6827969 single base substitution C T upstream_gene_variant MELA-AU 19 6828048 6828048 single base substitution G A downstream_gene_variant MELA-AU 19 6828048 6828048 single base substitution G A intron_variant MELA-AU 19 6828048 6828048 single base substitution G A upstream_gene_variant MELA-AU 19 6828063 6828063 single base substitution C T downstream_gene_variant MELA-AU 19 6828063 6828063 single base substitution C T intron_variant MELA-AU 19 6828063 6828063 single base substitution C T upstream_gene_variant MELA-AU 19 6828173 6828173 single base substitution C T downstream_gene_variant MELA-AU 19 6828173 6828173 single base substitution C T synonymous_variant L241L 723C>T MELA-AU 19 6828173 6828173 single base substitution C T synonymous_variant L283L 849C>T MELA-AU 19 6828173 6828173 single base substitution C T synonymous_variant L306L 918C>T MELA-AU 19 6828173 6828173 single base substitution C T synonymous_variant L338L 1014C>T MELA-AU 19 6828173 6828173 single base substitution C T upstream_gene_variant MELA-AU 19 6828334 6828334 single base substitution G A downstream_gene_variant MELA-AU 19 6828334 6828334 single base substitution G A exon_variant MELA-AU 19 6828334 6828334 single base substitution G A intron_variant MELA-AU 19 6828334 6828334 single base substitution G A upstream_gene_variant MELA-AU 19 6828375 6828375 single base substitution C T downstream_gene_variant MELA-AU 19 6828375 6828375 single base substitution C T exon_variant MELA-AU 19 6828375 6828375 single base substitution C T intron_variant MELA-AU 19 6828375 6828375 single base substitution C T upstream_gene_variant MELA-AU 19 6828376 6828377 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 6828376 6828377 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 19 6828376 6828377 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 6828376 6828377 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 6828395 6828395 single base substitution G A downstream_gene_variant MELA-AU 19 6828395 6828395 single base substitution G A exon_variant MELA-AU 19 6828395 6828395 single base substitution G A intron_variant MELA-AU 19 6828395 6828395 single base substitution G A upstream_gene_variant MELA-AU 19 6828416 6828416 single base substitution C T downstream_gene_variant MELA-AU 19 6828416 6828416 single base substitution C T exon_variant MELA-AU 19 6828416 6828416 single base substitution C T intron_variant MELA-AU 19 6828416 6828416 single base substitution C T upstream_gene_variant MELA-AU 19 6828427 6828427 single base substitution C T downstream_gene_variant MELA-AU 19 6828427 6828427 single base substitution C T exon_variant MELA-AU 19 6828427 6828427 single base substitution C T splice_region_variant MELA-AU 19 6828427 6828427 single base substitution C T upstream_gene_variant MELA-AU 19 6828564 6828564 single base substitution C T downstream_gene_variant MELA-AU 19 6828564 6828564 single base substitution C T exon_variant MELA-AU 19 6828564 6828564 single base substitution C T intron_variant MELA-AU 19 6828582 6828582 single base substitution G A downstream_gene_variant MELA-AU 19 6828582 6828582 single base substitution G A exon_variant MELA-AU 19 6828582 6828582 single base substitution G A intron_variant MELA-AU 19 6828632 6828632 single base substitution G A downstream_gene_variant MELA-AU 19 6828632 6828632 single base substitution G A exon_variant MELA-AU 19 6828632 6828632 single base substitution G A splice_acceptor_variant MELA-AU 19 6828672 6828672 single base substitution G A downstream_gene_variant MELA-AU 19 6828672 6828672 single base substitution G A exon_variant MELA-AU 19 6828672 6828672 single base substitution G A missense_variant E281K 841G>A MELA-AU 19 6828672 6828672 single base substitution G A missense_variant E323K 967G>A MELA-AU 19 6828672 6828672 single base substitution G A missense_variant E346K 1036G>A MELA-AU 19 6828672 6828672 single base substitution G A missense_variant E378K 1132G>A MELA-AU 19 6828706 6828706 single base substitution C T downstream_gene_variant MELA-AU 19 6828706 6828706 single base substitution C T exon_variant MELA-AU 19 6828706 6828706 single base substitution C T missense_variant S292F 875C>T MELA-AU 19 6828706 6828706 single base substitution C T missense_variant S334F 1001C>T MELA-AU 19 6828706 6828706 single base substitution C T missense_variant S357F 1070C>T MELA-AU 19 6828706 6828706 single base substitution C T missense_variant S389F 1166C>T MELA-AU 19 6828730 6828730 single base substitution G A downstream_gene_variant MELA-AU 19 6828730 6828730 single base substitution G A intron_variant MELA-AU 19 6828748 6828748 single base substitution G A downstream_gene_variant MELA-AU 19 6828748 6828748 single base substitution G A intron_variant MELA-AU 19 6828749 6828749 single base substitution G A downstream_gene_variant MELA-AU 19 6828749 6828749 single base substitution G A intron_variant MELA-AU 19 6828790 6828790 single base substitution G A downstream_gene_variant MELA-AU 19 6828790 6828790 single base substitution G A intron_variant MELA-AU 19 6828792 6828792 single base substitution G A downstream_gene_variant MELA-AU 19 6828792 6828792 single base substitution G A intron_variant MELA-AU 19 6829011 6829011 single base substitution G A downstream_gene_variant MELA-AU 19 6829011 6829011 single base substitution G A intron_variant MELA-AU 19 6829030 6829030 single base substitution G A downstream_gene_variant MELA-AU 19 6829030 6829030 single base substitution G A intron_variant MELA-AU 19 6829182 6829182 single base substitution G A downstream_gene_variant MELA-AU 19 6829182 6829182 single base substitution G A intron_variant MELA-AU 19 6829201 6829201 single base substitution A G downstream_gene_variant MELA-AU 19 6829201 6829201 single base substitution A G intron_variant MELA-AU 19 6829479 6829479 single base substitution G A downstream_gene_variant MELA-AU 19 6829479 6829479 single base substitution G A intron_variant MELA-AU 19 6829855 6829855 single base substitution G A downstream_gene_variant MELA-AU 19 6829855 6829855 single base substitution G A exon_variant MELA-AU 19 6829855 6829855 single base substitution G A intron_variant MELA-AU 19 6829855 6829855 single base substitution G A missense_variant D345N 1033G>A MELA-AU 19 6829855 6829855 single base substitution G A missense_variant D387N 1159G>A MELA-AU 19 6829855 6829855 single base substitution G A missense_variant D410N 1228G>A MELA-AU 19 6829855 6829855 single base substitution G A missense_variant D442N 1324G>A MELA-AU 19 6829864 6829864 single base substitution G A downstream_gene_variant MELA-AU 19 6829864 6829864 single base substitution G A exon_variant MELA-AU 19 6829864 6829864 single base substitution G A intron_variant MELA-AU 19 6829864 6829864 single base substitution G A missense_variant D348N 1042G>A MELA-AU 19 6829864 6829864 single base substitution G A missense_variant D390N 1168G>A MELA-AU 19 6829864 6829864 single base substitution G A missense_variant D413N 1237G>A MELA-AU 19 6829864 6829864 single base substitution G A missense_variant D445N 1333G>A MELA-AU 19 6830101 6830101 single base substitution C T downstream_gene_variant MELA-AU 19 6830101 6830101 single base substitution C T intron_variant MELA-AU 19 6830145 6830146 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 19 6830145 6830146 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 19 6830193 6830193 single base substitution C T downstream_gene_variant MELA-AU 19 6830193 6830193 single base substitution C T intron_variant MELA-AU 19 6830306 6830306 single base substitution G A downstream_gene_variant MELA-AU 19 6830306 6830306 single base substitution G A intron_variant MELA-AU 19 6830338 6830338 single base substitution G A downstream_gene_variant MELA-AU 19 6830338 6830338 single base substitution G A intron_variant MELA-AU 19 6830424 6830424 single base substitution G A downstream_gene_variant MELA-AU 19 6830424 6830424 single base substitution G A intron_variant MELA-AU 19 6830436 6830436 single base substitution G A downstream_gene_variant MELA-AU 19 6830436 6830436 single base substitution G A intron_variant MELA-AU 19 6830694 6830694 single base substitution G A downstream_gene_variant MELA-AU 19 6830694 6830694 single base substitution G A intron_variant MELA-AU 19 6830768 6830768 single base substitution G A downstream_gene_variant MELA-AU 19 6830768 6830768 single base substitution G A intron_variant MELA-AU 19 6831289 6831289 single base substitution T C downstream_gene_variant MELA-AU 19 6831289 6831289 single base substitution T C intron_variant MELA-AU 19 6831289 6831289 single base substitution T C upstream_gene_variant MELA-AU 19 6831514 6831514 single base substitution G A downstream_gene_variant MELA-AU 19 6831514 6831514 single base substitution G A intron_variant MELA-AU 19 6831514 6831514 single base substitution G A upstream_gene_variant MELA-AU 19 6831966 6831966 single base substitution G A downstream_gene_variant MELA-AU 19 6831966 6831966 single base substitution G A intron_variant MELA-AU 19 6831966 6831966 single base substitution G A upstream_gene_variant MELA-AU 19 6832029 6832029 single base substitution G A downstream_gene_variant MELA-AU 19 6832029 6832029 single base substitution G A intron_variant MELA-AU 19 6832029 6832029 single base substitution G A upstream_gene_variant MELA-AU 19 6832117 6832117 single base substitution C T exon_variant MELA-AU 19 6832117 6832117 single base substitution C T missense_variant L375F 1123C>T MELA-AU 19 6832117 6832117 single base substitution C T missense_variant L417F 1249C>T MELA-AU 19 6832117 6832117 single base substitution C T missense_variant L440F 1318C>T MELA-AU 19 6832117 6832117 single base substitution C T missense_variant L472F 1414C>T MELA-AU 19 6832117 6832117 single base substitution C T upstream_gene_variant MELA-AU 19 6832210 6832210 single base substitution A G downstream_gene_variant MELA-AU 19 6832210 6832210 single base substitution A G missense_variant I406V 1216A>G MELA-AU 19 6832210 6832210 single base substitution A G missense_variant I448V 1342A>G MELA-AU 19 6832210 6832210 single base substitution A G missense_variant I471V 1411A>G MELA-AU 19 6832210 6832210 single base substitution A G missense_variant I503V 1507A>G MELA-AU 19 6832210 6832210 single base substitution A G splice_region_variant MELA-AU 19 6832210 6832210 single base substitution A G upstream_gene_variant MELA-AU 19 6832230 6832230 single base substitution C T downstream_gene_variant MELA-AU 19 6832230 6832230 single base substitution C T intron_variant MELA-AU 19 6832230 6832230 single base substitution C T upstream_gene_variant MELA-AU 19 6832250 6832250 single base substitution G A downstream_gene_variant MELA-AU 19 6832250 6832250 single base substitution G A intron_variant MELA-AU 19 6832250 6832250 single base substitution G A upstream_gene_variant MELA-AU 19 6832528 6832528 single base substitution C T downstream_gene_variant MELA-AU 19 6832528 6832528 single base substitution C T intron_variant MELA-AU 19 6832528 6832528 single base substitution C T upstream_gene_variant MELA-AU 19 6832534 6832534 single base substitution C T downstream_gene_variant MELA-AU 19 6832534 6832534 single base substitution C T intron_variant MELA-AU 19 6832534 6832534 single base substitution C T upstream_gene_variant MELA-AU 19 6832544 6832545 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 6832544 6832545 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 6832544 6832545 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 6832576 6832576 single base substitution C T downstream_gene_variant MELA-AU 19 6832576 6832576 single base substitution C T intron_variant MELA-AU 19 6832576 6832576 single base substitution C T upstream_gene_variant MELA-AU 19 6832640 6832640 single base substitution C T downstream_gene_variant MELA-AU 19 6832640 6832640 single base substitution C T intron_variant MELA-AU 19 6832640 6832640 single base substitution C T upstream_gene_variant MELA-AU 19 6832652 6832652 single base substitution T A downstream_gene_variant MELA-AU 19 6832652 6832652 single base substitution T A intron_variant MELA-AU 19 6832652 6832652 single base substitution T A upstream_gene_variant MELA-AU 19 6832654 6832654 single base substitution C T downstream_gene_variant MELA-AU 19 6832654 6832654 single base substitution C T intron_variant MELA-AU 19 6832654 6832654 single base substitution C T upstream_gene_variant MELA-AU 19 6832842 6832842 single base substitution G A downstream_gene_variant MELA-AU 19 6832842 6832842 single base substitution G A intron_variant MELA-AU 19 6832842 6832842 single base substitution G A upstream_gene_variant MELA-AU 19 6833062 6833062 single base substitution G A downstream_gene_variant MELA-AU 19 6833062 6833062 single base substitution G A intron_variant MELA-AU 19 6833062 6833062 single base substitution G A upstream_gene_variant MELA-AU 19 6833073 6833073 single base substitution C A downstream_gene_variant MELA-AU 19 6833073 6833073 single base substitution C A intron_variant MELA-AU 19 6833073 6833073 single base substitution C A upstream_gene_variant MELA-AU 19 6833186 6833186 single base substitution C T downstream_gene_variant MELA-AU 19 6833186 6833186 single base substitution C T intron_variant MELA-AU 19 6833186 6833186 single base substitution C T upstream_gene_variant MELA-AU 19 6833373 6833373 single base substitution G T downstream_gene_variant MELA-AU 19 6833373 6833373 single base substitution G T intron_variant MELA-AU 19 6833373 6833373 single base substitution G T upstream_gene_variant MELA-AU 19 6833410 6833410 single base substitution G A downstream_gene_variant MELA-AU 19 6833410 6833410 single base substitution G A intron_variant MELA-AU 19 6833410 6833410 single base substitution G A upstream_gene_variant MELA-AU 19 6833528 6833528 single base substitution C T downstream_gene_variant MELA-AU 19 6833528 6833528 single base substitution C T intron_variant MELA-AU 19 6833528 6833528 single base substitution C T upstream_gene_variant MELA-AU 19 6833570 6833570 single base substitution C T downstream_gene_variant MELA-AU 19 6833570 6833570 single base substitution C T exon_variant MELA-AU 19 6833570 6833570 single base substitution C T missense_variant R451W 1351C>T MELA-AU 19 6833570 6833570 single base substitution C T missense_variant R493W 1477C>T MELA-AU 19 6833570 6833570 single base substitution C T missense_variant R516W 1546C>T MELA-AU 19 6833570 6833570 single base substitution C T missense_variant R548W 1642C>T MELA-AU 19 6833570 6833570 single base substitution C T upstream_gene_variant MELA-AU 19 6833674 6833674 single base substitution C T downstream_gene_variant MELA-AU 19 6833674 6833674 single base substitution C T intron_variant MELA-AU 19 6833674 6833674 single base substitution C T upstream_gene_variant MELA-AU 19 6833820 6833820 single base substitution G A downstream_gene_variant MELA-AU 19 6833820 6833820 single base substitution G A intron_variant MELA-AU 19 6833820 6833820 single base substitution G A upstream_gene_variant MELA-AU 19 6834204 6834204 single base substitution C T downstream_gene_variant MELA-AU 19 6834204 6834204 single base substitution C T intron_variant MELA-AU 19 6834204 6834204 single base substitution C T upstream_gene_variant MELA-AU 19 6834318 6834318 single base substitution G A downstream_gene_variant MELA-AU 19 6834318 6834318 single base substitution G A intron_variant MELA-AU 19 6834318 6834318 single base substitution G A upstream_gene_variant MELA-AU 19 6834474 6834474 single base substitution C T downstream_gene_variant MELA-AU 19 6834474 6834474 single base substitution C T intron_variant MELA-AU 19 6834474 6834474 single base substitution C T upstream_gene_variant MELA-AU 19 6835037 6835037 single base substitution G A downstream_gene_variant MELA-AU 19 6835037 6835037 single base substitution G A intron_variant MELA-AU 19 6835037 6835037 single base substitution G A upstream_gene_variant MELA-AU 19 6835560 6835560 single base substitution C T downstream_gene_variant MELA-AU 19 6835560 6835560 single base substitution C T intron_variant MELA-AU 19 6835560 6835560 single base substitution C T upstream_gene_variant MELA-AU 19 6835609 6835609 single base substitution T G downstream_gene_variant MELA-AU 19 6835609 6835609 single base substitution T G intron_variant MELA-AU 19 6835609 6835609 single base substitution T G upstream_gene_variant MELA-AU 19 6835636 6835636 single base substitution C T downstream_gene_variant MELA-AU 19 6835636 6835636 single base substitution C T intron_variant MELA-AU 19 6835636 6835636 single base substitution C T upstream_gene_variant MELA-AU 19 6835656 6835656 single base substitution C T downstream_gene_variant MELA-AU 19 6835656 6835656 single base substitution C T intron_variant MELA-AU 19 6835656 6835656 single base substitution C T upstream_gene_variant MELA-AU 19 6835946 6835946 single base substitution G A downstream_gene_variant MELA-AU 19 6835946 6835946 single base substitution G A exon_variant MELA-AU 19 6835946 6835946 single base substitution G A intron_variant MELA-AU 19 6836069 6836069 single base substitution G A downstream_gene_variant MELA-AU 19 6836069 6836069 single base substitution G A exon_variant MELA-AU 19 6836069 6836069 single base substitution G A intron_variant MELA-AU 19 6836097 6836097 single base substitution C T downstream_gene_variant MELA-AU 19 6836097 6836097 single base substitution C T exon_variant MELA-AU 19 6836097 6836097 single base substitution C T intron_variant MELA-AU 19 6836321 6836321 single base substitution C T downstream_gene_variant MELA-AU 19 6836321 6836321 single base substitution C T exon_variant MELA-AU 19 6836321 6836321 single base substitution C T intron_variant MELA-AU 19 6836360 6836360 single base substitution T A downstream_gene_variant MELA-AU 19 6836360 6836360 single base substitution T A exon_variant MELA-AU 19 6836360 6836360 single base substitution T A intron_variant MELA-AU 19 6836450 6836450 single base substitution C T downstream_gene_variant MELA-AU 19 6836450 6836450 single base substitution C T exon_variant MELA-AU 19 6836450 6836450 single base substitution C T synonymous_variant P498P 1494C>T MELA-AU 19 6836450 6836450 single base substitution C T synonymous_variant P540P 1620C>T MELA-AU 19 6836450 6836450 single base substitution C T synonymous_variant P563P 1689C>T MELA-AU 19 6836450 6836450 single base substitution C T synonymous_variant P595P 1785C>T MELA-AU 19 6836638 6836638 single base substitution A T downstream_gene_variant MELA-AU 19 6836638 6836638 single base substitution A T intron_variant MELA-AU 19 6836895 6836895 single base substitution G A downstream_gene_variant MELA-AU 19 6836895 6836895 single base substitution G A intron_variant MELA-AU 19 6836950 6836950 single base substitution G A downstream_gene_variant MELA-AU 19 6836950 6836950 single base substitution G A intron_variant MELA-AU 19 6836954 6836954 single base substitution C T downstream_gene_variant MELA-AU 19 6836954 6836954 single base substitution C T intron_variant MELA-AU 19 6837120 6837120 single base substitution G A downstream_gene_variant MELA-AU 19 6837120 6837120 single base substitution G A intron_variant MELA-AU 19 6837160 6837160 single base substitution G A downstream_gene_variant MELA-AU 19 6837160 6837160 single base substitution G A intron_variant MELA-AU 19 6837167 6837168 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 6837167 6837168 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 6837207 6837207 single base substitution C T downstream_gene_variant MELA-AU 19 6837207 6837207 single base substitution C T intron_variant MELA-AU 19 6837230 6837230 single base substitution G A downstream_gene_variant MELA-AU 19 6837230 6837230 single base substitution G A intron_variant MELA-AU 19 6837417 6837417 single base substitution C T downstream_gene_variant MELA-AU 19 6837417 6837417 single base substitution C T intron_variant MELA-AU 19 6837547 6837547 single base substitution C T downstream_gene_variant MELA-AU 19 6837547 6837547 single base substitution C T intron_variant MELA-AU 19 6837601 6837601 single base substitution G A downstream_gene_variant MELA-AU 19 6837601 6837601 single base substitution G A intron_variant MELA-AU 19 6837602 6837602 single base substitution G A downstream_gene_variant MELA-AU 19 6837602 6837602 single base substitution G A intron_variant MELA-AU 19 6837813 6837813 single base substitution C T downstream_gene_variant MELA-AU 19 6837813 6837813 single base substitution C T intron_variant MELA-AU 19 6837951 6837951 single base substitution C T downstream_gene_variant MELA-AU 19 6837951 6837951 single base substitution C T intron_variant MELA-AU 19 6838080 6838080 single base substitution C T downstream_gene_variant MELA-AU 19 6838080 6838080 single base substitution C T intron_variant MELA-AU 19 6838104 6838104 single base substitution G A downstream_gene_variant MELA-AU 19 6838104 6838104 single base substitution G A intron_variant MELA-AU 19 6838232 6838232 single base substitution T C downstream_gene_variant MELA-AU 19 6838232 6838232 single base substitution T C intron_variant MELA-AU 19 6838293 6838293 single base substitution C T downstream_gene_variant MELA-AU 19 6838293 6838293 single base substitution C T intron_variant MELA-AU 19 6838359 6838359 single base substitution C T downstream_gene_variant MELA-AU 19 6838359 6838359 single base substitution C T intron_variant MELA-AU 19 6838675 6838675 single base substitution C T downstream_gene_variant MELA-AU 19 6838675 6838675 single base substitution C T intron_variant MELA-AU 19 6838690 6838690 single base substitution C T downstream_gene_variant MELA-AU 19 6838690 6838690 single base substitution C T intron_variant MELA-AU 19 6838917 6838917 single base substitution T G downstream_gene_variant MELA-AU 19 6838917 6838917 single base substitution T G intron_variant MELA-AU 19 6839189 6839189 single base substitution G A downstream_gene_variant MELA-AU 19 6839189 6839189 single base substitution G A intron_variant MELA-AU 19 6839259 6839259 single base substitution C T downstream_gene_variant MELA-AU 19 6839259 6839259 single base substitution C T intron_variant MELA-AU 19 6839275 6839275 single base substitution G T downstream_gene_variant MELA-AU 19 6839275 6839275 single base substitution G T intron_variant MELA-AU 19 6839375 6839375 single base substitution A C downstream_gene_variant MELA-AU 19 6839375 6839375 single base substitution A C intron_variant MELA-AU 19 6839478 6839478 single base substitution C T downstream_gene_variant MELA-AU 19 6839478 6839478 single base substitution C T intron_variant MELA-AU 19 6839530 6839530 single base substitution C T downstream_gene_variant MELA-AU 19 6839530 6839530 single base substitution C T intron_variant MELA-AU 19 6839581 6839581 single base substitution G A downstream_gene_variant MELA-AU 19 6839581 6839581 single base substitution G A intron_variant MELA-AU 19 6839711 6839711 single base substitution C T downstream_gene_variant MELA-AU 19 6839711 6839711 single base substitution C T intron_variant MELA-AU 19 6839915 6839915 single base substitution C T downstream_gene_variant MELA-AU 19 6839915 6839915 single base substitution C T intron_variant MELA-AU 19 6840538 6840538 single base substitution C T downstream_gene_variant MELA-AU 19 6840538 6840538 single base substitution C T intron_variant MELA-AU 19 6840543 6840543 single base substitution C T downstream_gene_variant MELA-AU 19 6840543 6840543 single base substitution C T intron_variant MELA-AU 19 6840551 6840551 single base substitution C T downstream_gene_variant MELA-AU 19 6840551 6840551 single base substitution C T intron_variant MELA-AU 19 6840661 6840661 single base substitution G A downstream_gene_variant MELA-AU 19 6840661 6840661 single base substitution G A intron_variant MELA-AU 19 6840701 6840701 single base substitution G A downstream_gene_variant MELA-AU 19 6840701 6840701 single base substitution G A intron_variant MELA-AU 19 6840813 6840813 single base substitution G A downstream_gene_variant MELA-AU 19 6840813 6840813 single base substitution G A intron_variant MELA-AU 19 6841048 6841048 single base substitution C T downstream_gene_variant MELA-AU 19 6841048 6841048 single base substitution C T intron_variant MELA-AU 19 6841392 6841392 single base substitution C T downstream_gene_variant MELA-AU 19 6841392 6841392 single base substitution C T intron_variant MELA-AU 19 6841578 6841578 single base substitution C A downstream_gene_variant MELA-AU 19 6841578 6841578 single base substitution C A intron_variant MELA-AU 19 6841683 6841683 single base substitution T C downstream_gene_variant MELA-AU 19 6841683 6841683 single base substitution T C intron_variant MELA-AU 19 6841690 6841690 single base substitution T C downstream_gene_variant MELA-AU 19 6841690 6841690 single base substitution T C intron_variant MELA-AU 19 6841727 6841727 single base substitution C T downstream_gene_variant MELA-AU 19 6841727 6841727 single base substitution C T intron_variant MELA-AU 19 6841838 6841838 single base substitution G A downstream_gene_variant MELA-AU 19 6841838 6841838 single base substitution G A intron_variant MELA-AU 19 6841856 6841856 single base substitution C T downstream_gene_variant MELA-AU 19 6841856 6841856 single base substitution C T intron_variant MELA-AU 19 6841985 6841985 single base substitution C T downstream_gene_variant MELA-AU 19 6841985 6841985 single base substitution C T intron_variant MELA-AU 19 6841996 6841996 single base substitution G A downstream_gene_variant MELA-AU 19 6841996 6841996 single base substitution G A intron_variant MELA-AU 19 6842668 6842668 single base substitution G A intron_variant MELA-AU 19 6842683 6842683 single base substitution T A intron_variant MELA-AU 19 6842704 6842704 single base substitution G T intron_variant MELA-AU 19 6842847 6842847 single base substitution A T intron_variant MELA-AU 19 6843123 6843123 single base substitution G A intron_variant MELA-AU 19 6843133 6843133 single base substitution T A intron_variant MELA-AU 19 6843360 6843360 single base substitution C T intron_variant MELA-AU 19 6843482 6843482 single base substitution G A intron_variant MELA-AU 19 6843579 6843579 single base substitution G A intron_variant MELA-AU 19 6843913 6843913 single base substitution G A intron_variant MELA-AU 19 6843998 6843998 single base substitution T C intron_variant MELA-AU 19 6844000 6844000 single base substitution C T intron_variant MELA-AU 19 6844156 6844156 single base substitution C T intron_variant MELA-AU 19 6844309 6844309 single base substitution A C intron_variant MELA-AU 19 6844309 6844309 single base substitution A G intron_variant MELA-AU 19 6844453 6844453 single base substitution C T intron_variant MELA-AU 19 6844535 6844535 single base substitution C T intron_variant MELA-AU 19 6844758 6844758 single base substitution G A intron_variant MELA-AU 19 6844772 6844772 single base substitution G A intron_variant MELA-AU 19 6844826 6844826 single base substitution C T intron_variant MELA-AU 19 6844993 6844993 single base substitution C T intron_variant MELA-AU 19 6845897 6845897 single base substitution C A intron_variant MELA-AU 19 6846326 6846326 single base substitution G A intron_variant MELA-AU 19 6846329 6846329 single base substitution G C intron_variant MELA-AU 19 6846709 6846709 single base substitution C T intron_variant MELA-AU 19 6847292 6847292 single base substitution C G intron_variant MELA-AU 19 6847440 6847440 single base substitution C T intron_variant MELA-AU 19 6847503 6847503 single base substitution C T intron_variant MELA-AU 19 6847770 6847770 single base substitution C T intron_variant MELA-AU 19 6847845 6847845 single base substitution C T intron_variant MELA-AU 19 6847926 6847926 single base substitution G T intron_variant MELA-AU 19 6847929 6847929 single base substitution G A intron_variant MELA-AU 19 6847975 6847975 single base substitution C T intron_variant MELA-AU 19 6847976 6847976 single base substitution C T intron_variant MELA-AU 19 6847991 6847991 single base substitution C T intron_variant MELA-AU 19 6848182 6848182 single base substitution G A intron_variant MELA-AU 19 6848189 6848189 single base substitution G A intron_variant MELA-AU 19 6848247 6848247 single base substitution C T intron_variant MELA-AU 19 6848248 6848248 single base substitution C T intron_variant MELA-AU 19 6848523 6848523 single base substitution C T intron_variant MELA-AU 19 6848684 6848684 single base substitution G A intron_variant MELA-AU 19 6848794 6848794 single base substitution A T intron_variant MELA-AU 19 6848989 6848989 single base substitution G A intron_variant MELA-AU 19 6849091 6849091 single base substitution C T intron_variant MELA-AU 19 6849199 6849199 single base substitution C T intron_variant MELA-AU 19 6849238 6849238 single base substitution C T intron_variant MELA-AU 19 6849276 6849276 single base substitution C T intron_variant MELA-AU 19 6849398 6849398 single base substitution C T intron_variant MELA-AU 19 6849514 6849514 single base substitution A T intron_variant MELA-AU 19 6849773 6849773 single base substitution C T intron_variant MELA-AU 19 6849842 6849842 single base substitution C T intron_variant MELA-AU 19 6849946 6849946 single base substitution C T intron_variant MELA-AU 19 6849953 6849953 single base substitution G A intron_variant MELA-AU 19 6849992 6849992 single base substitution T C intron_variant MELA-AU 19 6850127 6850127 single base substitution G T intron_variant MELA-AU 19 6850305 6850305 single base substitution C T intron_variant MELA-AU 19 6850366 6850367 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 19 6850479 6850479 single base substitution G A intron_variant MELA-AU 19 6850582 6850582 single base substitution C T intron_variant MELA-AU 19 6850638 6850638 single base substitution G A intron_variant MELA-AU 19 6850756 6850756 single base substitution C T synonymous_variant F638F 1914C>T MELA-AU 19 6850756 6850756 single base substitution C T synonymous_variant F680F 2040C>T MELA-AU 19 6850756 6850756 single base substitution C T synonymous_variant F703F 2109C>T MELA-AU 19 6850756 6850756 single base substitution C T synonymous_variant F713F 2139C>T MELA-AU 19 6850756 6850756 single base substitution C T synonymous_variant F735F 2205C>T MELA-AU 19 6850851 6850851 single base substitution C T intron_variant MELA-AU 19 6850852 6850852 single base substitution C T intron_variant MELA-AU 19 6851349 6851349 single base substitution A G intron_variant MELA-AU 19 6851385 6851385 single base substitution G A intron_variant MELA-AU 19 6851434 6851434 single base substitution C T intron_variant MELA-AU 19 6851709 6851709 single base substitution T C intron_variant MELA-AU 19 6851864 6851864 single base substitution G A intron_variant MELA-AU 19 6851878 6851878 single base substitution C T intron_variant MELA-AU 19 6852067 6852067 single base substitution C T intron_variant MELA-AU 19 6852119 6852119 single base substitution G A intron_variant MELA-AU 19 6852354 6852354 single base substitution G A intron_variant MELA-AU 19 6852499 6852499 single base substitution G A intron_variant MELA-AU 19 6852765 6852765 single base substitution T A intron_variant MELA-AU 19 6853128 6853128 single base substitution C T intron_variant MELA-AU 19 6853133 6853133 single base substitution C T intron_variant MELA-AU 19 6853492 6853492 single base substitution C T intron_variant MELA-AU 19 6853523 6853523 single base substitution T C intron_variant MELA-AU 19 6853846 6853846 single base substitution G C intron_variant MELA-AU 19 6853856 6853856 single base substitution G A intron_variant MELA-AU 19 6853868 6853868 single base substitution C T intron_variant MELA-AU 19 6854173 6854173 single base substitution G A intron_variant MELA-AU 19 6854174 6854174 single base substitution G A intron_variant MELA-AU 19 6854250 6854250 single base substitution G A intron_variant MELA-AU 19 6854346 6854346 single base substitution G A intron_variant MELA-AU 19 6854366 6854366 single base substitution G A intron_variant MELA-AU 19 6854379 6854379 single base substitution G A intron_variant MELA-AU 19 6854495 6854495 single base substitution G A intron_variant MELA-AU 19 6854535 6854535 single base substitution C T intron_variant MELA-AU 19 6854737 6854737 single base substitution G A intron_variant MELA-AU 19 6854813 6854813 single base substitution G A intron_variant MELA-AU 19 6855128 6855128 single base substitution C T intron_variant MELA-AU 19 6855258 6855258 single base substitution G A intron_variant MELA-AU 19 6855454 6855454 single base substitution C T intron_variant MELA-AU 19 6855493 6855493 single base substitution C T intron_variant MELA-AU 19 6855559 6855559 single base substitution C T intron_variant MELA-AU 19 6855880 6855880 single base substitution T C intron_variant MELA-AU 19 6855943 6855943 single base substitution C T intron_variant MELA-AU 19 6856200 6856200 single base substitution C T intron_variant MELA-AU 19 6856262 6856262 single base substitution C T intron_variant MELA-AU 19 6856499 6856499 single base substitution G A intron_variant MELA-AU 19 6856867 6856868 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 6857032 6857032 single base substitution G A intron_variant MELA-AU 19 6857209 6857209 single base substitution C A 3_prime_UTR_variant MELA-AU 19 6857209 6857209 single base substitution C A downstream_gene_variant MELA-AU 19 6857265 6857265 single base substitution C G 3_prime_UTR_variant MELA-AU 19 6857265 6857265 single base substitution C G downstream_gene_variant MELA-AU 19 6857307 6857307 single base substitution C T 3_prime_UTR_variant MELA-AU 19 6857307 6857307 single base substitution C T downstream_gene_variant MELA-AU 19 6857469 6857469 single base substitution G A downstream_gene_variant MELA-AU 19 6857668 6857668 single base substitution G A downstream_gene_variant MELA-AU 19 6857880 6857881 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 6858062 6858062 single base substitution C T downstream_gene_variant MELA-AU 19 6858072 6858072 single base substitution G A downstream_gene_variant MELA-AU 19 6858108 6858108 single base substitution C T downstream_gene_variant MELA-AU 19 6858162 6858162 single base substitution C T downstream_gene_variant MELA-AU 19 6858422 6858422 single base substitution C T downstream_gene_variant MELA-AU 19 6858628 6858628 single base substitution G A downstream_gene_variant MELA-AU 19 6859347 6859347 single base substitution G A downstream_gene_variant MELA-AU 19 6859517 6859518 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 6859707 6859707 single base substitution G A downstream_gene_variant MELA-AU 19 6861023 6861023 single base substitution G A downstream_gene_variant MELA-AU 19 6861174 6861174 single base substitution G A downstream_gene_variant MELA-AU 19 6861385 6861385 single base substitution G A downstream_gene_variant MELA-AU 19 6861680 6861680 single base substitution G A downstream_gene_variant MELA-AU 19 6861728 6861728 single base substitution G A downstream_gene_variant MELA-AU 19 6861728 6861729 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 6861730 6861730 single base substitution G A downstream_gene_variant MELA-AU 19 6861786 6861786 single base substitution C T downstream_gene_variant MELA-AU 19 6861793 6861793 single base substitution C T downstream_gene_variant MELA-AU 19 6861835 6861835 single base substitution G A downstream_gene_variant MELA-AU 19 6862079 6862080 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant ORCA-IN 19 6776171 6776178 deletion of <=200bp CCATCCAT - intron_variant ORCA-IN 19 6777261 6777261 single base substitution C T intron_variant ORCA-IN 19 6787585 6787604 deletion of <=200bp ATTTATTTATTTATTTATTT - intron_variant ORCA-IN 19 6792750 6792750 single base substitution G A intron_variant ORCA-IN 19 6806432 6806432 single base substitution G T intron_variant ORCA-IN 19 6811441 6811441 single base substitution C T intron_variant ORCA-IN 19 6822243 6822243 single base substitution A C missense_variant E154A 461A>C ORCA-IN 19 6822243 6822243 single base substitution A C missense_variant E89A 266A>C ORCA-IN 19 6822243 6822243 single base substitution A C missense_variant E99A 296A>C ORCA-IN 19 6822243 6822243 single base substitution A C upstream_gene_variant ORCA-IN 19 6825206 6825206 single base substitution G A intron_variant ORCA-IN 19 6825206 6825206 single base substitution G A upstream_gene_variant ORCA-IN 19 6856741 6856741 deletion of <=200bp G - intron_variant ORCA-IN 19 6861300 6861300 single base substitution A G downstream_gene_variant ORCA-IN 19 6861399 6861399 single base substitution C G downstream_gene_variant OV-AU 19 6769874 6769874 single base substitution C G upstream_gene_variant OV-AU 19 6773881 6773881 single base substitution C T intron_variant OV-AU 19 6773895 6773895 single base substitution T G intron_variant OV-AU 19 6778462 6778462 single base substitution T C intron_variant OV-AU 19 6784875 6784875 single base substitution A G intron_variant OV-AU 19 6784876 6784876 single base substitution C A intron_variant OV-AU 19 6785708 6785708 single base substitution T A intron_variant OV-AU 19 6785960 6785960 single base substitution C T intron_variant OV-AU 19 6786489 6786489 single base substitution A T intron_variant OV-AU 19 6788479 6788479 single base substitution G T intron_variant OV-AU 19 6790758 6790758 single base substitution C A intron_variant OV-AU 19 6794046 6794046 single base substitution C T intron_variant OV-AU 19 6799602 6799602 single base substitution A G intron_variant OV-AU 19 6803229 6803229 single base substitution C T intron_variant OV-AU 19 6808396 6808396 single base substitution G A intron_variant OV-AU 19 6810681 6810681 single base substitution A C intron_variant OV-AU 19 6812263 6812263 single base substitution C G intron_variant OV-AU 19 6814733 6814733 single base substitution T C intron_variant OV-AU 19 6814916 6814916 single base substitution A T intron_variant OV-AU 19 6818179 6818179 single base substitution G C intron_variant OV-AU 19 6818179 6818179 single base substitution G C upstream_gene_variant OV-AU 19 6819834 6819834 single base substitution C T intron_variant OV-AU 19 6819834 6819834 single base substitution C T upstream_gene_variant OV-AU 19 6825446 6825446 single base substitution C G intron_variant OV-AU 19 6825446 6825446 single base substitution C G upstream_gene_variant OV-AU 19 6826643 6826643 single base substitution A T exon_variant OV-AU 19 6826643 6826643 single base substitution A T missense_variant Y186F 557A>T OV-AU 19 6826643 6826643 single base substitution A T missense_variant Y228F 683A>T OV-AU 19 6826643 6826643 single base substitution A T missense_variant Y251F 752A>T OV-AU 19 6826643 6826643 single base substitution A T missense_variant Y283F 848A>T OV-AU 19 6826643 6826643 single base substitution A T upstream_gene_variant OV-AU 19 6828653 6828653 single base substitution C T downstream_gene_variant OV-AU 19 6828653 6828653 single base substitution C T exon_variant OV-AU 19 6828653 6828653 single base substitution C T synonymous_variant N274N 822C>T OV-AU 19 6828653 6828653 single base substitution C T synonymous_variant N316N 948C>T OV-AU 19 6828653 6828653 single base substitution C T synonymous_variant N339N 1017C>T OV-AU 19 6828653 6828653 single base substitution C T synonymous_variant N371N 1113C>T OV-AU 19 6833542 6833587 deletion of <=200bp TACCTTCTATCAGGGCTACCGCTGCCATCGGTGCCGGGCATCTGCA - downstream_gene_variant OV-AU 19 6833542 6833587 deletion of <=200bp TACCTTCTATCAGGGCTACCGCTGCCATCGGTGCCGGGCATCTGCA - exon_variant OV-AU 19 6833542 6833587 deletion of <=200bp TACCTTCTATCAGGGCTACCGCTGCCATCGGTGCCGGGCATCTGCA - frameshift_variant GTFYQGYRCHRCRASA441 OV-AU 19 6833542 6833587 deletion of <=200bp TACCTTCTATCAGGGCTACCGCTGCCATCGGTGCCGGGCATCTGCA - frameshift_variant GTFYQGYRCHRCRASA483 OV-AU 19 6833542 6833587 deletion of <=200bp TACCTTCTATCAGGGCTACCGCTGCCATCGGTGCCGGGCATCTGCA - frameshift_variant GTFYQGYRCHRCRASA506 OV-AU 19 6833542 6833587 deletion of <=200bp TACCTTCTATCAGGGCTACCGCTGCCATCGGTGCCGGGCATCTGCA - frameshift_variant GTFYQGYRCHRCRASA538 OV-AU 19 6833542 6833587 deletion of <=200bp TACCTTCTATCAGGGCTACCGCTGCCATCGGTGCCGGGCATCTGCA - upstream_gene_variant OV-AU 19 6833607 6833607 single base substitution G C downstream_gene_variant OV-AU 19 6833607 6833607 single base substitution G C exon_variant OV-AU 19 6833607 6833607 single base substitution G C missense_variant R463T 1388G>C OV-AU 19 6833607 6833607 single base substitution G C missense_variant R505T 1514G>C OV-AU 19 6833607 6833607 single base substitution G C missense_variant R528T 1583G>C OV-AU 19 6833607 6833607 single base substitution G C missense_variant R560T 1679G>C OV-AU 19 6833607 6833607 single base substitution G C upstream_gene_variant OV-AU 19 6836115 6836115 single base substitution C G downstream_gene_variant OV-AU 19 6836115 6836115 single base substitution C G exon_variant OV-AU 19 6836115 6836115 single base substitution C G intron_variant OV-AU 19 6838143 6838143 single base substitution T C downstream_gene_variant OV-AU 19 6838143 6838143 single base substitution T C intron_variant OV-AU 19 6838346 6838346 single base substitution A C downstream_gene_variant OV-AU 19 6838346 6838346 single base substitution A C intron_variant OV-AU 19 6838348 6838348 single base substitution G A downstream_gene_variant OV-AU 19 6838348 6838348 single base substitution G A intron_variant OV-AU 19 6841673 6841673 single base substitution G T downstream_gene_variant OV-AU 19 6841673 6841673 single base substitution G T intron_variant OV-AU 19 6841861 6841861 single base substitution C T downstream_gene_variant OV-AU 19 6841861 6841861 single base substitution C T intron_variant OV-AU 19 6845365 6845365 single base substitution C G intron_variant OV-AU 19 6847929 6847929 single base substitution G A intron_variant OV-AU 19 6851495 6851495 single base substitution C G intron_variant OV-AU 19 6855034 6855034 single base substitution C T intron_variant OV-AU 19 6855201 6855201 single base substitution A T intron_variant OV-AU 19 6855419 6855419 single base substitution C G intron_variant OV-AU 19 6858609 6858609 single base substitution T A downstream_gene_variant OV-AU 19 6861285 6861285 single base substitution C T downstream_gene_variant PACA-AU 19 6768954 6768954 single base substitution G C upstream_gene_variant PACA-AU 19 6771456 6771456 single base substitution G A upstream_gene_variant PACA-AU 19 6772990 6772990 single base substitution C T 5_prime_UTR_variant PACA-AU 19 6772990 6772990 single base substitution C T missense_variant R58C 172C>T PACA-AU 19 6773036 6773036 single base substitution G A intron_variant PACA-AU 19 6778621 6778621 single base substitution C A intron_variant PACA-AU 19 6779497 6779525 deletion of <=200bp TTTATAACATGACTGCGTATTCCATTTAT - intron_variant PACA-AU 19 6779497 6779525 deletion of <=200bp TTTATAACATGACTGCGTATTCCATTTAT - upstream_gene_variant PACA-AU 19 6787607 6787607 single base substitution T C intron_variant PACA-AU 19 6788339 6788339 single base substitution C T intron_variant PACA-AU 19 6790190 6790194 deletion of <=200bp AAAAT - intron_variant PACA-AU 19 6790423 6790449 deletion of <=200bp AGGACATTTATTCTCTCATAATCCTAG - intron_variant PACA-AU 19 6794106 6794106 single base substitution C T intron_variant PACA-AU 19 6800997 6800997 single base substitution T A intron_variant PACA-AU 19 6803762 6803762 single base substitution G C intron_variant PACA-AU 19 6805761 6805761 single base substitution A G intron_variant PACA-AU 19 6806343 6806343 single base substitution G A intron_variant PACA-AU 19 6807393 6807393 single base substitution C G intron_variant PACA-AU 19 6807610 6807610 single base substitution C G intron_variant PACA-AU 19 6807739 6807739 single base substitution C G intron_variant PACA-AU 19 6808178 6808178 single base substitution C T intron_variant PACA-AU 19 6809098 6809098 single base substitution T G intron_variant PACA-AU 19 6809099 6809099 single base substitution T G intron_variant PACA-AU 19 6811075 6811075 single base substitution C T intron_variant PACA-AU 19 6814856 6814856 single base substitution T C intron_variant PACA-AU 19 6814857 6814857 single base substitution C A intron_variant PACA-AU 19 6814957 6814957 deletion of <=200bp T - intron_variant PACA-AU 19 6816521 6816521 single base substitution C T intron_variant PACA-AU 19 6833803 6833803 single base substitution G A downstream_gene_variant PACA-AU 19 6833803 6833803 single base substitution G A intron_variant PACA-AU 19 6833803 6833803 single base substitution G A upstream_gene_variant PACA-AU 19 6834036 6834044 deletion of <=200bp ATCTCCATA - downstream_gene_variant PACA-AU 19 6834036 6834044 deletion of <=200bp ATCTCCATA - intron_variant PACA-AU 19 6834036 6834044 deletion of <=200bp ATCTCCATA - upstream_gene_variant PACA-AU 19 6838336 6838336 single base substitution A G downstream_gene_variant PACA-AU 19 6838336 6838336 single base substitution A G intron_variant PACA-AU 19 6838346 6838346 single base substitution A C downstream_gene_variant PACA-AU 19 6838346 6838346 single base substitution A C intron_variant PACA-AU 19 6838348 6838348 single base substitution G A downstream_gene_variant PACA-AU 19 6838348 6838348 single base substitution G A intron_variant PACA-AU 19 6839153 6839153 single base substitution C A downstream_gene_variant PACA-AU 19 6839153 6839153 single base substitution C A intron_variant PACA-AU 19 6840976 6840976 single base substitution A G downstream_gene_variant PACA-AU 19 6840976 6840976 single base substitution A G intron_variant PACA-AU 19 6844140 6844140 single base substitution G A intron_variant PACA-AU 19 6846459 6846459 single base substitution C T intron_variant PACA-AU 19 6851449 6851449 single base substitution T C intron_variant PACA-AU 19 6851794 6851794 single base substitution C G intron_variant PACA-AU 19 6853990 6853990 single base substitution G T missense_variant A692S 2074G>T PACA-AU 19 6853990 6853990 single base substitution G T missense_variant A734S 2200G>T PACA-AU 19 6853990 6853990 single base substitution G T missense_variant A757S 2269G>T PACA-AU 19 6853990 6853990 single base substitution G T missense_variant A767S 2299G>T PACA-AU 19 6853990 6853990 single base substitution G T missense_variant A789S 2365G>T PACA-AU 19 6854217 6854217 single base substitution C G intron_variant PACA-AU 19 6856835 6856835 single base substitution A C intron_variant PACA-AU 19 6857389 6857389 single base substitution G A downstream_gene_variant PACA-AU 19 6859132 6859132 single base substitution T C downstream_gene_variant PACA-AU 19 6859189 6859189 single base substitution G A downstream_gene_variant PACA-AU 19 6860988 6860988 single base substitution T A downstream_gene_variant PACA-AU 19 6861132 6861132 single base substitution C A downstream_gene_variant PACA-AU 19 6861140 6861140 single base substitution C T downstream_gene_variant PACA-AU 19 6862373 6862373 single base substitution A G downstream_gene_variant PACA-AU 19 6862377 6862377 single base substitution A G downstream_gene_variant PACA-CA 19 6769545 6769545 single base substitution T C upstream_gene_variant PACA-CA 19 6770784 6770784 single base substitution G A upstream_gene_variant PACA-CA 19 6776511 6776511 single base substitution T C intron_variant PACA-CA 19 6783959 6783959 single base substitution C T intron_variant PACA-CA 19 6783959 6783959 single base substitution C T upstream_gene_variant PACA-CA 19 6785455 6785455 single base substitution G C intron_variant PACA-CA 19 6788304 6788304 single base substitution C T intron_variant PACA-CA 19 6792445 6792445 single base substitution T G intron_variant PACA-CA 19 6793068 6793068 single base substitution G A intron_variant PACA-CA 19 6793301 6793301 single base substitution C T intron_variant PACA-CA 19 6794420 6794420 single base substitution G A intron_variant PACA-CA 19 6799189 6799189 insertion of <=200bp - T intron_variant PACA-CA 19 6799985 6799985 single base substitution C T intron_variant PACA-CA 19 6800121 6800121 single base substitution C A intron_variant PACA-CA 19 6800363 6800363 single base substitution C T intron_variant PACA-CA 19 6802036 6802036 single base substitution C G intron_variant PACA-CA 19 6805145 6805145 single base substitution C T intron_variant PACA-CA 19 6805361 6805361 single base substitution G A intron_variant PACA-CA 19 6806285 6806285 single base substitution A G intron_variant PACA-CA 19 6808151 6808151 single base substitution C T intron_variant PACA-CA 19 6809098 6809098 single base substitution T G intron_variant PACA-CA 19 6813986 6813986 single base substitution T A intron_variant PACA-CA 19 6814757 6814757 single base substitution T A intron_variant PACA-CA 19 6815007 6815007 single base substitution G A intron_variant PACA-CA 19 6816283 6816283 single base substitution G A intron_variant PACA-CA 19 6817977 6817977 single base substitution A T intron_variant PACA-CA 19 6817977 6817977 single base substitution A T upstream_gene_variant PACA-CA 19 6819902 6819902 single base substitution G C intron_variant PACA-CA 19 6819902 6819902 single base substitution G C upstream_gene_variant PACA-CA 19 6821410 6821410 deletion of <=200bp A - intron_variant PACA-CA 19 6821410 6821410 deletion of <=200bp A - upstream_gene_variant PACA-CA 19 6821585 6821585 single base substitution C T intron_variant PACA-CA 19 6821585 6821585 single base substitution C T upstream_gene_variant PACA-CA 19 6825928 6825928 single base substitution G A intron_variant PACA-CA 19 6825928 6825928 single base substitution G A upstream_gene_variant PACA-CA 19 6828654 6828654 single base substitution G A downstream_gene_variant PACA-CA 19 6828654 6828654 single base substitution G A exon_variant PACA-CA 19 6828654 6828654 single base substitution G A missense_variant E275K 823G>A PACA-CA 19 6828654 6828654 single base substitution G A missense_variant E317K 949G>A PACA-CA 19 6828654 6828654 single base substitution G A missense_variant E340K 1018G>A PACA-CA 19 6828654 6828654 single base substitution G A missense_variant E372K 1114G>A PACA-CA 19 6828681 6828681 single base substitution C T downstream_gene_variant PACA-CA 19 6828681 6828681 single base substitution C T exon_variant PACA-CA 19 6828681 6828681 single base substitution C T stop_gained R284* 850C>T PACA-CA 19 6828681 6828681 single base substitution C T stop_gained R326* 976C>T PACA-CA 19 6828681 6828681 single base substitution C T stop_gained R349* 1045C>T PACA-CA 19 6828681 6828681 single base substitution C T stop_gained R381* 1141C>T PACA-CA 19 6828870 6828870 single base substitution A G downstream_gene_variant PACA-CA 19 6828870 6828870 single base substitution A G exon_variant PACA-CA 19 6828870 6828870 single base substitution A G synonymous_variant E311E 933A>G PACA-CA 19 6828870 6828870 single base substitution A G synonymous_variant E353E 1059A>G PACA-CA 19 6828870 6828870 single base substitution A G synonymous_variant E376E 1128A>G PACA-CA 19 6828870 6828870 single base substitution A G synonymous_variant E408E 1224A>G PACA-CA 19 6829607 6829607 single base substitution G C downstream_gene_variant PACA-CA 19 6829607 6829607 single base substitution G C intron_variant PACA-CA 19 6829642 6829642 single base substitution A G downstream_gene_variant PACA-CA 19 6829642 6829642 single base substitution A G intron_variant PACA-CA 19 6830757 6830757 single base substitution A G downstream_gene_variant PACA-CA 19 6830757 6830757 single base substitution A G intron_variant PACA-CA 19 6831698 6831698 single base substitution G A downstream_gene_variant PACA-CA 19 6831698 6831698 single base substitution G A intron_variant PACA-CA 19 6831698 6831698 single base substitution G A upstream_gene_variant PACA-CA 19 6832509 6832509 single base substitution T A downstream_gene_variant PACA-CA 19 6832509 6832509 single base substitution T A intron_variant PACA-CA 19 6832509 6832509 single base substitution T A upstream_gene_variant PACA-CA 19 6832510 6832510 single base substitution C A downstream_gene_variant PACA-CA 19 6832510 6832510 single base substitution C A intron_variant PACA-CA 19 6832510 6832510 single base substitution C A upstream_gene_variant PACA-CA 19 6834960 6834960 single base substitution G A downstream_gene_variant PACA-CA 19 6834960 6834960 single base substitution G A intron_variant PACA-CA 19 6834960 6834960 single base substitution G A upstream_gene_variant PACA-CA 19 6836195 6836195 single base substitution T C downstream_gene_variant PACA-CA 19 6836195 6836195 single base substitution T C exon_variant PACA-CA 19 6836195 6836195 single base substitution T C intron_variant PACA-CA 19 6837024 6837024 single base substitution G T downstream_gene_variant PACA-CA 19 6837024 6837024 single base substitution G T exon_variant PACA-CA 19 6837024 6837024 single base substitution G T intron_variant PACA-CA 19 6837024 6837024 single base substitution G T missense_variant G551V 1652G>T PACA-CA 19 6837024 6837024 single base substitution G T missense_variant G593V 1778G>T PACA-CA 19 6837024 6837024 single base substitution G T missense_variant G616V 1847G>T PACA-CA 19 6837024 6837024 single base substitution G T missense_variant G648V 1943G>T PACA-CA 19 6837065 6837065 single base substitution A C downstream_gene_variant PACA-CA 19 6837065 6837065 single base substitution A C intron_variant PACA-CA 19 6837065 6837065 single base substitution A C splice_region_variant PACA-CA 19 6839787 6839787 single base substitution C T downstream_gene_variant PACA-CA 19 6839787 6839787 single base substitution C T intron_variant PACA-CA 19 6840512 6840512 single base substitution G A downstream_gene_variant PACA-CA 19 6840512 6840512 single base substitution G A intron_variant PACA-CA 19 6845933 6845933 single base substitution A G intron_variant PACA-CA 19 6850758 6850758 single base substitution G A missense_variant R639Q 1916G>A PACA-CA 19 6850758 6850758 single base substitution G A missense_variant R681Q 2042G>A PACA-CA 19 6850758 6850758 single base substitution G A missense_variant R704Q 2111G>A PACA-CA 19 6850758 6850758 single base substitution G A missense_variant R714Q 2141G>A PACA-CA 19 6850758 6850758 single base substitution G A missense_variant R736Q 2207G>A PACA-CA 19 6851363 6851363 single base substitution A T intron_variant PACA-CA 19 6853367 6853367 single base substitution C G intron_variant PACA-CA 19 6854087 6854087 single base substitution G A stop_gained W724* 2171G>A PACA-CA 19 6854087 6854087 single base substitution G A stop_gained W766* 2297G>A PACA-CA 19 6854087 6854087 single base substitution G A stop_gained W789* 2366G>A PACA-CA 19 6854087 6854087 single base substitution G A stop_gained W799* 2396G>A PACA-CA 19 6854087 6854087 single base substitution G A stop_gained W821* 2462G>A PACA-CA 19 6856451 6856451 single base substitution G T intron_variant PACA-CA 19 6856653 6856653 single base substitution T C intron_variant PACA-CA 19 6856691 6856691 single base substitution C T intron_variant PACA-CA 19 6858768 6858768 single base substitution G C downstream_gene_variant PACA-CA 19 6859588 6859588 single base substitution G A downstream_gene_variant PACA-CA 19 6859808 6859808 single base substitution G T downstream_gene_variant PAEN-AU 19 6772767 6772767 single base substitution T G 5_prime_UTR_variant PAEN-AU 19 6772767 6772767 single base substitution T G upstream_gene_variant PAEN-AU 19 6773754 6773754 single base substitution G A intron_variant PAEN-AU 19 6776339 6776339 single base substitution T C intron_variant PAEN-AU 19 6776470 6776470 single base substitution C T intron_variant PAEN-AU 19 6793100 6793100 single base substitution C T intron_variant PAEN-AU 19 6813141 6813142 deletion of <=200bp AT - intron_variant PAEN-AU 19 6826629 6826629 single base substitution C T exon_variant PAEN-AU 19 6826629 6826629 single base substitution C T synonymous_variant L181L 543C>T PAEN-AU 19 6826629 6826629 single base substitution C T synonymous_variant L223L 669C>T PAEN-AU 19 6826629 6826629 single base substitution C T synonymous_variant L246L 738C>T PAEN-AU 19 6826629 6826629 single base substitution C T synonymous_variant L278L 834C>T PAEN-AU 19 6826629 6826629 single base substitution C T upstream_gene_variant PAEN-IT 19 6772152 6772152 single base substitution C T upstream_gene_variant PAEN-IT 19 6777499 6777499 single base substitution C G intron_variant PAEN-IT 19 6802992 6802992 single base substitution C G intron_variant PAEN-IT 19 6824146 6824146 single base substitution C G intron_variant PAEN-IT 19 6824146 6824146 single base substitution C G upstream_gene_variant PAEN-IT 19 6832152 6832152 single base substitution G A exon_variant PAEN-IT 19 6832152 6832152 single base substitution G A synonymous_variant E386E 1158G>A PAEN-IT 19 6832152 6832152 single base substitution G A synonymous_variant E428E 1284G>A PAEN-IT 19 6832152 6832152 single base substitution G A synonymous_variant E451E 1353G>A PAEN-IT 19 6832152 6832152 single base substitution G A synonymous_variant E483E 1449G>A PAEN-IT 19 6832152 6832152 single base substitution G A upstream_gene_variant PAEN-IT 19 6835862 6835862 single base substitution T A downstream_gene_variant PAEN-IT 19 6835862 6835862 single base substitution T A exon_variant PAEN-IT 19 6835862 6835862 single base substitution T A intron_variant PAEN-IT 19 6860761 6860761 single base substitution C A downstream_gene_variant PBCA-DE 19 6768720 6768720 insertion of <=200bp - TTTAT upstream_gene_variant PBCA-DE 19 6774756 6774756 insertion of <=200bp - T intron_variant PBCA-DE 19 6775943 6775943 single base substitution G T intron_variant PBCA-DE 19 6776450 6776450 single base substitution T C intron_variant PBCA-DE 19 6776458 6776458 single base substitution C T intron_variant PBCA-DE 19 6776462 6776462 single base substitution C T intron_variant PBCA-DE 19 6782341 6782341 insertion of <=200bp - AAAT intron_variant PBCA-DE 19 6782341 6782341 insertion of <=200bp - AAAT upstream_gene_variant PBCA-DE 19 6798671 6798671 deletion of <=200bp C - intron_variant PBCA-DE 19 6806602 6806602 single base substitution C G intron_variant PBCA-DE 19 6807439 6807439 single base substitution C T intron_variant PBCA-DE 19 6807532 6807532 single base substitution T G intron_variant PBCA-DE 19 6810589 6810589 single base substitution G A intron_variant PBCA-DE 19 6812761 6812761 single base substitution A T intron_variant PBCA-DE 19 6814191 6814191 single base substitution C A intron_variant PBCA-DE 19 6815376 6815376 single base substitution C T intron_variant PBCA-DE 19 6820472 6820472 single base substitution A G intron_variant PBCA-DE 19 6820472 6820472 single base substitution A G upstream_gene_variant PBCA-DE 19 6820482 6820482 single base substitution C T intron_variant PBCA-DE 19 6820482 6820482 single base substitution C T upstream_gene_variant PBCA-DE 19 6824125 6824125 deletion of <=200bp T - intron_variant PBCA-DE 19 6824125 6824125 deletion of <=200bp T - upstream_gene_variant PBCA-DE 19 6826775 6826775 single base substitution G T exon_variant PBCA-DE 19 6826775 6826775 single base substitution G T intron_variant PBCA-DE 19 6826775 6826775 single base substitution G T upstream_gene_variant PBCA-DE 19 6827461 6827461 insertion of <=200bp - T downstream_gene_variant PBCA-DE 19 6827461 6827461 insertion of <=200bp - T intron_variant PBCA-DE 19 6827461 6827461 insertion of <=200bp - T upstream_gene_variant PBCA-DE 19 6834198 6834198 single base substitution C T downstream_gene_variant PBCA-DE 19 6834198 6834198 single base substitution C T intron_variant PBCA-DE 19 6834198 6834198 single base substitution C T upstream_gene_variant PBCA-DE 19 6835226 6835227 deletion of <=200bp AC - downstream_gene_variant PBCA-DE 19 6835226 6835227 deletion of <=200bp AC - intron_variant PBCA-DE 19 6835226 6835227 deletion of <=200bp AC - upstream_gene_variant PBCA-DE 19 6838447 6838447 single base substitution C T downstream_gene_variant PBCA-DE 19 6838447 6838447 single base substitution C T intron_variant PBCA-DE 19 6842846 6842846 insertion of <=200bp - A intron_variant PBCA-DE 19 6853423 6853423 single base substitution A T intron_variant PBCA-DE 19 6856887 6856888 deletion of <=200bp GT - intron_variant PBCA-DE 19 6862270 6862270 deletion of <=200bp C - downstream_gene_variant PRAD-CA 19 6774409 6774409 single base substitution G T intron_variant PRAD-CA 19 6776174 6776174 single base substitution T C intron_variant PRAD-CA 19 6795487 6795487 single base substitution A C intron_variant PRAD-CA 19 6805594 6805594 single base substitution T C intron_variant PRAD-CA 19 6814678 6814678 single base substitution C T intron_variant PRAD-CA 19 6822711 6822711 single base substitution C T intron_variant PRAD-CA 19 6828008 6828008 single base substitution C G downstream_gene_variant PRAD-CA 19 6828008 6828008 single base substitution C G intron_variant PRAD-CA 19 6828008 6828008 single base substitution C G upstream_gene_variant PRAD-CA 19 6832617 6832617 single base substitution T C downstream_gene_variant PRAD-CA 19 6832617 6832617 single base substitution T C intron_variant PRAD-CA 19 6832617 6832617 single base substitution T C upstream_gene_variant PRAD-CA 19 6832618 6832618 single base substitution A C downstream_gene_variant PRAD-CA 19 6832618 6832618 single base substitution A C intron_variant PRAD-CA 19 6832618 6832618 single base substitution A C upstream_gene_variant PRAD-CA 19 6833374 6833374 single base substitution G A downstream_gene_variant PRAD-CA 19 6833374 6833374 single base substitution G A intron_variant PRAD-CA 19 6833374 6833374 single base substitution G A upstream_gene_variant PRAD-CA 19 6835493 6835493 single base substitution G T downstream_gene_variant PRAD-CA 19 6835493 6835493 single base substitution G T intron_variant PRAD-CA 19 6835493 6835493 single base substitution G T upstream_gene_variant PRAD-CA 19 6838147 6838147 single base substitution C T downstream_gene_variant PRAD-CA 19 6838147 6838147 single base substitution C T intron_variant PRAD-CA 19 6857527 6857527 single base substitution A C downstream_gene_variant PRAD-CA 19 6858829 6858829 single base substitution C T downstream_gene_variant PRAD-UK 19 6771953 6771953 single base substitution G A upstream_gene_variant PRAD-UK 19 6774756 6774756 insertion of <=200bp - T intron_variant PRAD-UK 19 6781491 6781491 single base substitution G T intron_variant PRAD-UK 19 6781491 6781491 single base substitution G T upstream_gene_variant PRAD-UK 19 6785140 6785140 single base substitution C T intron_variant PRAD-UK 19 6798295 6798295 single base substitution A T intron_variant PRAD-UK 19 6802029 6802029 single base substitution G C intron_variant PRAD-UK 19 6803828 6803828 single base substitution G A intron_variant PRAD-UK 19 6814905 6814905 single base substitution C A intron_variant PRAD-UK 19 6816591 6816591 single base substitution C T intron_variant PRAD-UK 19 6828470 6828470 single base substitution A G downstream_gene_variant PRAD-UK 19 6828470 6828470 single base substitution A G exon_variant PRAD-UK 19 6828470 6828470 single base substitution A G missense_variant N258S 773A>G PRAD-UK 19 6828470 6828470 single base substitution A G missense_variant N300S 899A>G PRAD-UK 19 6828470 6828470 single base substitution A G missense_variant N323S 968A>G PRAD-UK 19 6828470 6828470 single base substitution A G missense_variant N355S 1064A>G PRAD-UK 19 6828470 6828470 single base substitution A G upstream_gene_variant PRAD-UK 19 6829555 6829555 single base substitution G A downstream_gene_variant PRAD-UK 19 6829555 6829555 single base substitution G A intron_variant PRAD-UK 19 6832585 6832659 deletion of <=200bp CCTCCTCCTCGCCCTCCTCTTCCTCTTCCTCCTATTCCTCCTCCACCTCTTCTTCCTCCTCCTCCCTTTCCTCCC - downstream_gene_variant PRAD-UK 19 6832585 6832659 deletion of <=200bp CCTCCTCCTCGCCCTCCTCTTCCTCTTCCTCCTATTCCTCCTCCACCTCTTCTTCCTCCTCCTCCCTTTCCTCCC - intron_variant PRAD-UK 19 6832585 6832659 deletion of <=200bp CCTCCTCCTCGCCCTCCTCTTCCTCTTCCTCCTATTCCTCCTCCACCTCTTCTTCCTCCTCCTCCCTTTCCTCCC - upstream_gene_variant PRAD-US 19 6772975 6772975 single base substitution C A 5_prime_UTR_variant PRAD-US 19 6772975 6772975 single base substitution C A missense_variant H53N 157C>A PRAD-US 19 6822285 6822285 single base substitution C T missense_variant A103V 308C>T PRAD-US 19 6822285 6822285 single base substitution C T missense_variant A113V 338C>T PRAD-US 19 6822285 6822285 single base substitution C T missense_variant A168V 503C>T PRAD-US 19 6822285 6822285 single base substitution C T upstream_gene_variant PRAD-US 19 6822295 6822295 single base substitution C G missense_variant D106E 318C>G PRAD-US 19 6822295 6822295 single base substitution C G missense_variant D116E 348C>G PRAD-US 19 6822295 6822295 single base substitution C G missense_variant D171E 513C>G PRAD-US 19 6822295 6822295 single base substitution C G upstream_gene_variant READ-US 19 6821839 6821839 single base substitution G T missense_variant D140Y 418G>T READ-US 19 6821839 6821839 single base substitution G T missense_variant D75Y 223G>T READ-US 19 6821839 6821839 single base substitution G T missense_variant D85Y 253G>T READ-US 19 6821839 6821839 single base substitution G T upstream_gene_variant READ-US 19 6828877 6828877 single base substitution A T downstream_gene_variant READ-US 19 6828877 6828877 single base substitution A T exon_variant READ-US 19 6828877 6828877 single base substitution A T missense_variant I314F 940A>T READ-US 19 6828877 6828877 single base substitution A T missense_variant I356F 1066A>T READ-US 19 6828877 6828877 single base substitution A T missense_variant I379F 1135A>T READ-US 19 6828877 6828877 single base substitution A T missense_variant I411F 1231A>T RECA-EU 19 6768311 6768311 single base substitution A T upstream_gene_variant RECA-EU 19 6769264 6769264 single base substitution C T upstream_gene_variant RECA-EU 19 6774566 6774566 single base substitution C G intron_variant RECA-EU 19 6783083 6783083 single base substitution C G intron_variant RECA-EU 19 6783083 6783083 single base substitution C G upstream_gene_variant RECA-EU 19 6788697 6788697 single base substitution T C intron_variant RECA-EU 19 6803279 6803279 single base substitution C T intron_variant RECA-EU 19 6807528 6807528 single base substitution C A intron_variant RECA-EU 19 6811368 6811368 single base substitution T C intron_variant RECA-EU 19 6813487 6813487 single base substitution A T intron_variant RECA-EU 19 6818321 6818321 single base substitution G T intron_variant RECA-EU 19 6818321 6818321 single base substitution G T upstream_gene_variant RECA-EU 19 6820070 6820070 single base substitution C T intron_variant RECA-EU 19 6820070 6820070 single base substitution C T upstream_gene_variant RECA-EU 19 6821660 6821660 single base substitution T C missense_variant W117R 349T>C RECA-EU 19 6821660 6821660 single base substitution T C missense_variant W52R 154T>C RECA-EU 19 6821660 6821660 single base substitution T C missense_variant W62R 184T>C RECA-EU 19 6821660 6821660 single base substitution T C upstream_gene_variant RECA-EU 19 6824090 6824090 single base substitution G C intron_variant RECA-EU 19 6824090 6824090 single base substitution G C upstream_gene_variant RECA-EU 19 6835149 6835149 single base substitution C T downstream_gene_variant RECA-EU 19 6835149 6835149 single base substitution C T intron_variant RECA-EU 19 6835149 6835149 single base substitution C T upstream_gene_variant RECA-EU 19 6838108 6838108 single base substitution G A downstream_gene_variant RECA-EU 19 6838108 6838108 single base substitution G A intron_variant RECA-EU 19 6841329 6841329 single base substitution T C downstream_gene_variant RECA-EU 19 6841329 6841329 single base substitution T C intron_variant RECA-EU 19 6854621 6854621 single base substitution G A intron_variant SKCA-BR 19 6768242 6768242 single base substitution G A upstream_gene_variant SKCA-BR 19 6768974 6768974 single base substitution T C upstream_gene_variant SKCA-BR 19 6769416 6769416 single base substitution C T upstream_gene_variant SKCA-BR 19 6769926 6769926 single base substitution G A upstream_gene_variant SKCA-BR 19 6771869 6771869 single base substitution G A upstream_gene_variant SKCA-BR 19 6774157 6774157 single base substitution G T intron_variant SKCA-BR 19 6774229 6774229 single base substitution C T intron_variant SKCA-BR 19 6774230 6774230 single base substitution C T intron_variant SKCA-BR 19 6774361 6774361 single base substitution G A intron_variant SKCA-BR 19 6776499 6776499 single base substitution T C intron_variant SKCA-BR 19 6777296 6777296 single base substitution C T intron_variant SKCA-BR 19 6778983 6778983 single base substitution A G intron_variant SKCA-BR 19 6779519 6779519 single base substitution C T intron_variant SKCA-BR 19 6779519 6779519 single base substitution C T upstream_gene_variant SKCA-BR 19 6779649 6779649 single base substitution A G intron_variant SKCA-BR 19 6779649 6779649 single base substitution A G upstream_gene_variant SKCA-BR 19 6780041 6780041 single base substitution G A intron_variant SKCA-BR 19 6780041 6780041 single base substitution G A upstream_gene_variant SKCA-BR 19 6780791 6780791 single base substitution A C intron_variant SKCA-BR 19 6780791 6780791 single base substitution A C upstream_gene_variant SKCA-BR 19 6780903 6780903 single base substitution C T intron_variant SKCA-BR 19 6780903 6780903 single base substitution C T upstream_gene_variant SKCA-BR 19 6780959 6780959 single base substitution A C intron_variant SKCA-BR 19 6780959 6780959 single base substitution A C upstream_gene_variant SKCA-BR 19 6781055 6781055 single base substitution G A intron_variant SKCA-BR 19 6781055 6781055 single base substitution G A upstream_gene_variant SKCA-BR 19 6781203 6781203 single base substitution C T intron_variant SKCA-BR 19 6781203 6781203 single base substitution C T upstream_gene_variant SKCA-BR 19 6782012 6782012 single base substitution C T intron_variant SKCA-BR 19 6782012 6782012 single base substitution C T upstream_gene_variant SKCA-BR 19 6782446 6782446 single base substitution G T intron_variant SKCA-BR 19 6782446 6782446 single base substitution G T upstream_gene_variant SKCA-BR 19 6784639 6784639 single base substitution G A intron_variant SKCA-BR 19 6784640 6784640 single base substitution G A intron_variant SKCA-BR 19 6785542 6785542 single base substitution C T intron_variant SKCA-BR 19 6785652 6785652 insertion of <=200bp - GTTTC intron_variant SKCA-BR 19 6786282 6786282 single base substitution G A intron_variant SKCA-BR 19 6786691 6786691 single base substitution G A intron_variant SKCA-BR 19 6787272 6787272 single base substitution C T intron_variant SKCA-BR 19 6787477 6787477 single base substitution C T intron_variant SKCA-BR 19 6788623 6788623 single base substitution A G intron_variant SKCA-BR 19 6789622 6789622 single base substitution C T intron_variant SKCA-BR 19 6789745 6789745 single base substitution T G intron_variant SKCA-BR 19 6791507 6791507 single base substitution C T intron_variant SKCA-BR 19 6792950 6792950 single base substitution G A intron_variant SKCA-BR 19 6793032 6793032 single base substitution T C intron_variant SKCA-BR 19 6793405 6793405 single base substitution G A intron_variant SKCA-BR 19 6794088 6794088 insertion of <=200bp - TACCAATAAATCAACGGTAAATG intron_variant SKCA-BR 19 6794443 6794443 single base substitution G A intron_variant SKCA-BR 19 6794690 6794690 single base substitution C A intron_variant SKCA-BR 19 6794896 6794896 single base substitution G A intron_variant SKCA-BR 19 6798760 6798760 single base substitution G A intron_variant SKCA-BR 19 6799062 6799062 single base substitution C T intron_variant SKCA-BR 19 6799270 6799270 single base substitution C T intron_variant SKCA-BR 19 6801953 6801953 single base substitution C A intron_variant SKCA-BR 19 6801966 6801966 single base substitution G A intron_variant SKCA-BR 19 6802634 6802634 single base substitution A C intron_variant SKCA-BR 19 6804982 6804982 single base substitution A C intron_variant SKCA-BR 19 6806339 6806339 single base substitution A C intron_variant SKCA-BR 19 6806743 6806743 single base substitution G A intron_variant SKCA-BR 19 6807634 6807634 single base substitution G A intron_variant SKCA-BR 19 6808000 6808000 insertion of <=200bp - CAA intron_variant SKCA-BR 19 6808801 6808801 single base substitution G A intron_variant SKCA-BR 19 6811005 6811005 single base substitution G A intron_variant SKCA-BR 19 6811211 6811211 single base substitution T C intron_variant SKCA-BR 19 6812110 6812110 single base substitution G A intron_variant SKCA-BR 19 6812517 6812517 single base substitution A G intron_variant SKCA-BR 19 6813615 6813615 single base substitution C T intron_variant SKCA-BR 19 6814560 6814560 single base substitution T A intron_variant SKCA-BR 19 6814669 6814669 insertion of <=200bp - TCCTTCCTT intron_variant SKCA-BR 19 6814678 6814686 deletion of <=200bp CCTTCCTTT - intron_variant SKCA-BR 19 6814686 6814686 single base substitution T C intron_variant SKCA-BR 19 6815370 6815370 single base substitution C T intron_variant SKCA-BR 19 6816458 6816458 single base substitution G A intron_variant SKCA-BR 19 6816537 6816537 single base substitution C T intron_variant SKCA-BR 19 6816750 6816750 single base substitution T G intron_variant SKCA-BR 19 6818904 6818904 single base substitution A G intron_variant SKCA-BR 19 6818904 6818904 single base substitution A G upstream_gene_variant SKCA-BR 19 6819054 6819054 single base substitution G A intron_variant SKCA-BR 19 6819054 6819054 single base substitution G A upstream_gene_variant SKCA-BR 19 6819267 6819267 single base substitution C T intron_variant SKCA-BR 19 6819267 6819267 single base substitution C T upstream_gene_variant SKCA-BR 19 6821406 6821406 single base substitution C T intron_variant SKCA-BR 19 6821406 6821406 single base substitution C T upstream_gene_variant SKCA-BR 19 6821450 6821450 single base substitution G T intron_variant SKCA-BR 19 6821450 6821450 single base substitution G T upstream_gene_variant SKCA-BR 19 6821668 6821668 single base substitution G A synonymous_variant P119P 357G>A SKCA-BR 19 6821668 6821668 single base substitution G A synonymous_variant P54P 162G>A SKCA-BR 19 6821668 6821668 single base substitution G A synonymous_variant P64P 192G>A SKCA-BR 19 6821668 6821668 single base substitution G A upstream_gene_variant SKCA-BR 19 6821735 6821735 single base substitution C T intron_variant SKCA-BR 19 6821735 6821735 single base substitution C T upstream_gene_variant SKCA-BR 19 6822948 6822948 single base substitution C T intron_variant SKCA-BR 19 6823141 6823141 insertion of <=200bp - CTT intron_variant SKCA-BR 19 6824340 6824340 single base substitution G A intron_variant SKCA-BR 19 6824340 6824340 single base substitution G A upstream_gene_variant SKCA-BR 19 6825413 6825413 single base substitution G A exon_variant SKCA-BR 19 6825413 6825413 single base substitution G A missense_variant E178K 532G>A SKCA-BR 19 6825413 6825413 single base substitution G A missense_variant E220K 658G>A SKCA-BR 19 6825413 6825413 single base substitution G A missense_variant E243K 727G>A SKCA-BR 19 6825413 6825413 single base substitution G A missense_variant E275K 823G>A SKCA-BR 19 6825413 6825413 single base substitution G A upstream_gene_variant SKCA-BR 19 6826180 6826180 single base substitution C T intron_variant SKCA-BR 19 6826180 6826180 single base substitution C T upstream_gene_variant SKCA-BR 19 6827574 6827574 single base substitution C T downstream_gene_variant SKCA-BR 19 6827574 6827574 single base substitution C T intron_variant SKCA-BR 19 6827574 6827574 single base substitution C T upstream_gene_variant SKCA-BR 19 6830192 6830192 single base substitution C T downstream_gene_variant SKCA-BR 19 6830192 6830192 single base substitution C T intron_variant SKCA-BR 19 6830400 6830400 single base substitution C T downstream_gene_variant SKCA-BR 19 6830400 6830400 single base substitution C T intron_variant SKCA-BR 19 6832618 6832618 single base substitution A C downstream_gene_variant SKCA-BR 19 6832618 6832618 single base substitution A C intron_variant SKCA-BR 19 6832618 6832618 single base substitution A C upstream_gene_variant SKCA-BR 19 6833185 6833185 single base substitution C T downstream_gene_variant SKCA-BR 19 6833185 6833185 single base substitution C T intron_variant SKCA-BR 19 6833185 6833185 single base substitution C T upstream_gene_variant SKCA-BR 19 6833705 6833705 single base substitution C T downstream_gene_variant SKCA-BR 19 6833705 6833705 single base substitution C T intron_variant SKCA-BR 19 6833705 6833705 single base substitution C T upstream_gene_variant SKCA-BR 19 6833744 6833744 single base substitution G A downstream_gene_variant SKCA-BR 19 6833744 6833744 single base substitution G A exon_variant SKCA-BR 19 6833744 6833744 single base substitution G A splice_region_variant SKCA-BR 19 6833744 6833744 single base substitution G A upstream_gene_variant SKCA-BR 19 6834096 6834096 single base substitution C T downstream_gene_variant SKCA-BR 19 6834096 6834096 single base substitution C T intron_variant SKCA-BR 19 6834096 6834096 single base substitution C T upstream_gene_variant SKCA-BR 19 6836354 6836354 single base substitution G A downstream_gene_variant SKCA-BR 19 6836354 6836354 single base substitution G A exon_variant SKCA-BR 19 6836354 6836354 single base substitution G A intron_variant SKCA-BR 19 6836591 6836591 single base substitution G A downstream_gene_variant SKCA-BR 19 6836591 6836591 single base substitution G A intron_variant SKCA-BR 19 6837090 6837090 single base substitution G A downstream_gene_variant SKCA-BR 19 6837090 6837090 single base substitution G A intron_variant SKCA-BR 19 6837521 6837521 single base substitution C T downstream_gene_variant SKCA-BR 19 6837521 6837521 single base substitution C T intron_variant SKCA-BR 19 6838108 6838108 insertion of <=200bp - GTCTA downstream_gene_variant SKCA-BR 19 6838108 6838108 insertion of <=200bp - GTCTA intron_variant SKCA-BR 19 6839232 6839232 single base substitution G A downstream_gene_variant SKCA-BR 19 6839232 6839232 single base substitution G A intron_variant SKCA-BR 19 6839469 6839469 single base substitution G A downstream_gene_variant SKCA-BR 19 6839469 6839469 single base substitution G A intron_variant SKCA-BR 19 6839470 6839470 single base substitution G A downstream_gene_variant SKCA-BR 19 6839470 6839470 single base substitution G A intron_variant SKCA-BR 19 6839697 6839697 single base substitution G A downstream_gene_variant SKCA-BR 19 6839697 6839697 single base substitution G A intron_variant SKCA-BR 19 6841399 6841399 single base substitution G A downstream_gene_variant SKCA-BR 19 6841399 6841399 single base substitution G A intron_variant SKCA-BR 19 6841818 6841818 single base substitution C T downstream_gene_variant SKCA-BR 19 6841818 6841818 single base substitution C T intron_variant SKCA-BR 19 6842088 6842088 single base substitution T A intron_variant SKCA-BR 19 6842772 6842772 single base substitution G A intron_variant SKCA-BR 19 6843330 6843330 single base substitution G A intron_variant SKCA-BR 19 6844498 6844498 single base substitution G A intron_variant SKCA-BR 19 6846473 6846473 single base substitution C T intron_variant SKCA-BR 19 6849363 6849363 single base substitution G A intron_variant SKCA-BR 19 6851364 6851364 single base substitution T A intron_variant SKCA-BR 19 6851450 6851450 single base substitution C T intron_variant SKCA-BR 19 6852834 6852834 single base substitution G A intron_variant SKCA-BR 19 6853110 6853110 single base substitution G A intron_variant SKCA-BR 19 6854018 6854018 single base substitution G A missense_variant R701Q 2102G>A SKCA-BR 19 6854018 6854018 single base substitution G A missense_variant R743Q 2228G>A SKCA-BR 19 6854018 6854018 single base substitution G A missense_variant R766Q 2297G>A SKCA-BR 19 6854018 6854018 single base substitution G A missense_variant R776Q 2327G>A SKCA-BR 19 6854018 6854018 single base substitution G A missense_variant R798Q 2393G>A SKCA-BR 19 6854899 6854899 single base substitution G A intron_variant SKCA-BR 19 6856662 6856662 single base substitution G A intron_variant SKCA-BR 19 6858552 6858552 single base substitution C T downstream_gene_variant SKCA-BR 19 6858939 6858939 single base substitution T G downstream_gene_variant SKCA-BR 19 6859832 6859832 single base substitution C T downstream_gene_variant SKCA-BR 19 6860759 6860759 single base substitution C T downstream_gene_variant SKCA-BR 19 6860921 6860921 single base substitution C T downstream_gene_variant SKCM-US 19 6772975 6772975 single base substitution C T 5_prime_UTR_variant SKCM-US 19 6772975 6772975 single base substitution C T missense_variant H53Y 157C>T SKCM-US 19 6820742 6820742 single base substitution C T synonymous_variant F13F 39C>T SKCM-US 19 6820742 6820742 single base substitution C T synonymous_variant F23F 69C>T SKCM-US 19 6820742 6820742 single base substitution C T synonymous_variant F78F 234C>T SKCM-US 19 6820742 6820742 single base substitution C T upstream_gene_variant SKCM-US 19 6820766 6820766 single base substitution C T synonymous_variant F21F 63C>T SKCM-US 19 6820766 6820766 single base substitution C T synonymous_variant F31F 93C>T SKCM-US 19 6820766 6820766 single base substitution C T synonymous_variant F86F 258C>T SKCM-US 19 6820766 6820766 single base substitution C T upstream_gene_variant SKCM-US 19 6820787 6820787 single base substitution C T synonymous_variant L28L 84C>T SKCM-US 19 6820787 6820787 single base substitution C T synonymous_variant L38L 114C>T SKCM-US 19 6820787 6820787 single base substitution C T synonymous_variant L93L 279C>T SKCM-US 19 6820787 6820787 single base substitution C T upstream_gene_variant SKCM-US 19 6820818 6820818 single base substitution G A missense_variant D104N 310G>A SKCM-US 19 6820818 6820818 single base substitution G A missense_variant D39N 115G>A SKCM-US 19 6820818 6820818 single base substitution G A missense_variant D49N 145G>A SKCM-US 19 6820818 6820818 single base substitution G A upstream_gene_variant SKCM-US 19 6821681 6821681 single base substitution A C synonymous_variant R124R 370A>C SKCM-US 19 6821681 6821681 single base substitution A C synonymous_variant R59R 175A>C SKCM-US 19 6821681 6821681 single base substitution A C synonymous_variant R69R 205A>C SKCM-US 19 6821681 6821681 single base substitution A C upstream_gene_variant SKCM-US 19 6821684 6821684 single base substitution G A missense_variant G125R 373G>A SKCM-US 19 6821684 6821684 single base substitution G A missense_variant G60R 178G>A SKCM-US 19 6821684 6821684 single base substitution G A missense_variant G70R 208G>A SKCM-US 19 6821684 6821684 single base substitution G A upstream_gene_variant SKCM-US 19 6821821 6821821 single base substitution G A missense_variant E134K 400G>A SKCM-US 19 6821821 6821821 single base substitution G A missense_variant E69K 205G>A SKCM-US 19 6821821 6821821 single base substitution G A missense_variant E79K 235G>A SKCM-US 19 6821821 6821821 single base substitution G A upstream_gene_variant SKCM-US 19 6821869 6821869 single base substitution G A missense_variant D150N 448G>A SKCM-US 19 6821869 6821869 single base substitution G A missense_variant D85N 253G>A SKCM-US 19 6821869 6821869 single base substitution G A missense_variant D95N 283G>A SKCM-US 19 6821869 6821869 single base substitution G A upstream_gene_variant SKCM-US 19 6825082 6825082 single base substitution C G exon_variant SKCM-US 19 6825082 6825082 single base substitution C G missense_variant Q128E 382C>G SKCM-US 19 6825082 6825082 single base substitution C G missense_variant Q170E 508C>G SKCM-US 19 6825082 6825082 single base substitution C G missense_variant Q193E 577C>G SKCM-US 19 6825082 6825082 single base substitution C G missense_variant Q225E 673C>G SKCM-US 19 6825082 6825082 single base substitution C G upstream_gene_variant SKCM-US 19 6825340 6825340 single base substitution C T exon_variant SKCM-US 19 6825340 6825340 single base substitution C T synonymous_variant F153F 459C>T SKCM-US 19 6825340 6825340 single base substitution C T synonymous_variant F195F 585C>T SKCM-US 19 6825340 6825340 single base substitution C T synonymous_variant F218F 654C>T SKCM-US 19 6825340 6825340 single base substitution C T synonymous_variant F250F 750C>T SKCM-US 19 6825340 6825340 single base substitution C T upstream_gene_variant SKCM-US 19 6825388 6825388 single base substitution C T exon_variant SKCM-US 19 6825388 6825388 single base substitution C T synonymous_variant L169L 507C>T SKCM-US 19 6825388 6825388 single base substitution C T synonymous_variant L211L 633C>T SKCM-US 19 6825388 6825388 single base substitution C T synonymous_variant L234L 702C>T SKCM-US 19 6825388 6825388 single base substitution C T synonymous_variant L266L 798C>T SKCM-US 19 6825388 6825388 single base substitution C T upstream_gene_variant SKCM-US 19 6828173 6828173 single base substitution C T downstream_gene_variant SKCM-US 19 6828173 6828173 single base substitution C T synonymous_variant L241L 723C>T SKCM-US 19 6828173 6828173 single base substitution C T synonymous_variant L283L 849C>T SKCM-US 19 6828173 6828173 single base substitution C T synonymous_variant L306L 918C>T SKCM-US 19 6828173 6828173 single base substitution C T synonymous_variant L338L 1014C>T SKCM-US 19 6828173 6828173 single base substitution C T upstream_gene_variant SKCM-US 19 6828176 6828176 single base substitution T C downstream_gene_variant SKCM-US 19 6828176 6828176 single base substitution T C synonymous_variant L242L 726T>C SKCM-US 19 6828176 6828176 single base substitution T C synonymous_variant L284L 852T>C SKCM-US 19 6828176 6828176 single base substitution T C synonymous_variant L307L 921T>C SKCM-US 19 6828176 6828176 single base substitution T C synonymous_variant L339L 1017T>C SKCM-US 19 6828176 6828176 single base substitution T C upstream_gene_variant SKCM-US 19 6828179 6828179 single base substitution C T downstream_gene_variant SKCM-US 19 6828179 6828179 single base substitution C T synonymous_variant L243L 729C>T SKCM-US 19 6828179 6828179 single base substitution C T synonymous_variant L285L 855C>T SKCM-US 19 6828179 6828179 single base substitution C T synonymous_variant L308L 924C>T SKCM-US 19 6828179 6828179 single base substitution C T synonymous_variant L340L 1020C>T SKCM-US 19 6828179 6828179 single base substitution C T upstream_gene_variant SKCM-US 19 6828466 6828466 single base substitution G A downstream_gene_variant SKCM-US 19 6828466 6828466 single base substitution G A exon_variant SKCM-US 19 6828466 6828466 single base substitution G A missense_variant E257K 769G>A SKCM-US 19 6828466 6828466 single base substitution G A missense_variant E299K 895G>A SKCM-US 19 6828466 6828466 single base substitution G A missense_variant E322K 964G>A SKCM-US 19 6828466 6828466 single base substitution G A missense_variant E354K 1060G>A SKCM-US 19 6828466 6828466 single base substitution G A upstream_gene_variant SKCM-US 19 6828654 6828654 single base substitution G A downstream_gene_variant SKCM-US 19 6828654 6828654 single base substitution G A exon_variant SKCM-US 19 6828654 6828654 single base substitution G A missense_variant E275K 823G>A SKCM-US 19 6828654 6828654 single base substitution G A missense_variant E317K 949G>A SKCM-US 19 6828654 6828654 single base substitution G A missense_variant E340K 1018G>A SKCM-US 19 6828654 6828654 single base substitution G A missense_variant E372K 1114G>A SKCM-US 19 6828894 6828894 single base substitution G A downstream_gene_variant SKCM-US 19 6828894 6828894 single base substitution G A exon_variant SKCM-US 19 6828894 6828894 single base substitution G A synonymous_variant R319R 957G>A SKCM-US 19 6828894 6828894 single base substitution G A synonymous_variant R361R 1083G>A SKCM-US 19 6828894 6828894 single base substitution G A synonymous_variant R384R 1152G>A SKCM-US 19 6828894 6828894 single base substitution G A synonymous_variant R416R 1248G>A SKCM-US 19 6832117 6832117 single base substitution C T exon_variant SKCM-US 19 6832117 6832117 single base substitution C T missense_variant L375F 1123C>T SKCM-US 19 6832117 6832117 single base substitution C T missense_variant L417F 1249C>T SKCM-US 19 6832117 6832117 single base substitution C T missense_variant L440F 1318C>T SKCM-US 19 6832117 6832117 single base substitution C T missense_variant L472F 1414C>T SKCM-US 19 6832117 6832117 single base substitution C T upstream_gene_variant SKCM-US 19 6832125 6832125 single base substitution C T exon_variant SKCM-US 19 6832125 6832125 single base substitution C T synonymous_variant I377I 1131C>T SKCM-US 19 6832125 6832125 single base substitution C T synonymous_variant I419I 1257C>T SKCM-US 19 6832125 6832125 single base substitution C T synonymous_variant I442I 1326C>T SKCM-US 19 6832125 6832125 single base substitution C T synonymous_variant I474I 1422C>T SKCM-US 19 6832125 6832125 single base substitution C T upstream_gene_variant SKCM-US 19 6832146 6832146 single base substitution C T exon_variant SKCM-US 19 6832146 6832146 single base substitution C T synonymous_variant G384G 1152C>T SKCM-US 19 6832146 6832146 single base substitution C T synonymous_variant G426G 1278C>T SKCM-US 19 6832146 6832146 single base substitution C T synonymous_variant G449G 1347C>T SKCM-US 19 6832146 6832146 single base substitution C T synonymous_variant G481G 1443C>T SKCM-US 19 6832146 6832146 single base substitution C T upstream_gene_variant SKCM-US 19 6833197 6833197 single base substitution C T downstream_gene_variant SKCM-US 19 6833197 6833197 single base substitution C T missense_variant S407F 1220C>T SKCM-US 19 6833197 6833197 single base substitution C T missense_variant S449F 1346C>T SKCM-US 19 6833197 6833197 single base substitution C T missense_variant S472F 1415C>T SKCM-US 19 6833197 6833197 single base substitution C T missense_variant S504F 1511C>T SKCM-US 19 6833197 6833197 single base substitution C T splice_region_variant SKCM-US 19 6833197 6833197 single base substitution C T upstream_gene_variant SKCM-US 19 6833264 6833264 single base substitution C T downstream_gene_variant SKCM-US 19 6833264 6833264 single base substitution C T exon_variant SKCM-US 19 6833264 6833264 single base substitution C T synonymous_variant T429T 1287C>T SKCM-US 19 6833264 6833264 single base substitution C T synonymous_variant T471T 1413C>T SKCM-US 19 6833264 6833264 single base substitution C T synonymous_variant T494T 1482C>T SKCM-US 19 6833264 6833264 single base substitution C T synonymous_variant T526T 1578C>T SKCM-US 19 6833264 6833264 single base substitution C T upstream_gene_variant SKCM-US 19 6833594 6833594 single base substitution G A downstream_gene_variant SKCM-US 19 6833594 6833594 single base substitution G A exon_variant SKCM-US 19 6833594 6833594 single base substitution G A missense_variant E459K 1375G>A SKCM-US 19 6833594 6833594 single base substitution G A missense_variant E501K 1501G>A SKCM-US 19 6833594 6833594 single base substitution G A missense_variant E524K 1570G>A SKCM-US 19 6833594 6833594 single base substitution G A missense_variant E556K 1666G>A SKCM-US 19 6833594 6833594 single base substitution G A upstream_gene_variant SKCM-US 19 6833630 6833630 single base substitution G A downstream_gene_variant SKCM-US 19 6833630 6833630 single base substitution G A exon_variant SKCM-US 19 6833630 6833630 single base substitution G A missense_variant G471R 1411G>A SKCM-US 19 6833630 6833630 single base substitution G A missense_variant G513R 1537G>A SKCM-US 19 6833630 6833630 single base substitution G A missense_variant G536R 1606G>A SKCM-US 19 6833630 6833630 single base substitution G A missense_variant G568R 1702G>A SKCM-US 19 6833630 6833630 single base substitution G A upstream_gene_variant SKCM-US 19 6833726 6833726 single base substitution C T downstream_gene_variant SKCM-US 19 6833726 6833726 single base substitution C T exon_variant SKCM-US 19 6833726 6833726 single base substitution C T synonymous_variant F474F 1422C>T SKCM-US 19 6833726 6833726 single base substitution C T synonymous_variant F516F 1548C>T SKCM-US 19 6833726 6833726 single base substitution C T synonymous_variant F539F 1617C>T SKCM-US 19 6833726 6833726 single base substitution C T synonymous_variant F571F 1713C>T SKCM-US 19 6833726 6833726 single base substitution C T upstream_gene_variant SKCM-US 19 6836570 6836570 single base substitution C T downstream_gene_variant SKCM-US 19 6836570 6836570 single base substitution C T exon_variant SKCM-US 19 6836570 6836570 single base substitution C T synonymous_variant N538N 1614C>T SKCM-US 19 6836570 6836570 single base substitution C T synonymous_variant N580N 1740C>T SKCM-US 19 6836570 6836570 single base substitution C T synonymous_variant N603N 1809C>T SKCM-US 19 6836570 6836570 single base substitution C T synonymous_variant N635N 1905C>T SKCM-US 19 6848067 6848067 single base substitution G A missense_variant G594R 1780G>A SKCM-US 19 6848067 6848067 single base substitution G A missense_variant G636R 1906G>A SKCM-US 19 6848067 6848067 single base substitution G A missense_variant G659R 1975G>A SKCM-US 19 6848067 6848067 single base substitution G A missense_variant G669R 2005G>A SKCM-US 19 6848067 6848067 single base substitution G A missense_variant G691R 2071G>A SKCM-US 19 6853061 6853061 single base substitution C T missense_variant P671L 2012C>T SKCM-US 19 6853061 6853061 single base substitution C T missense_variant P713L 2138C>T SKCM-US 19 6853061 6853061 single base substitution C T missense_variant P736L 2207C>T SKCM-US 19 6853061 6853061 single base substitution C T missense_variant P746L 2237C>T SKCM-US 19 6853061 6853061 single base substitution C T missense_variant P768L 2303C>T SKCM-US 19 6854012 6854012 single base substitution G A missense_variant R699Q 2096G>A SKCM-US 19 6854012 6854012 single base substitution G A missense_variant R741Q 2222G>A SKCM-US 19 6854012 6854012 single base substitution G A missense_variant R764Q 2291G>A SKCM-US 19 6854012 6854012 single base substitution G A missense_variant R774Q 2321G>A SKCM-US 19 6854012 6854012 single base substitution G A missense_variant R796Q 2387G>A SKCM-US 19 6854016 6854016 single base substitution C T synonymous_variant D700D 2100C>T SKCM-US 19 6854016 6854016 single base substitution C T synonymous_variant D742D 2226C>T SKCM-US 19 6854016 6854016 single base substitution C T synonymous_variant D765D 2295C>T SKCM-US 19 6854016 6854016 single base substitution C T synonymous_variant D775D 2325C>T SKCM-US 19 6854016 6854016 single base substitution C T synonymous_variant D797D 2391C>T SKCM-US 19 6854071 6854071 single base substitution G A missense_variant G719R 2155G>A SKCM-US 19 6854071 6854071 single base substitution G A missense_variant G761R 2281G>A SKCM-US 19 6854071 6854071 single base substitution G A missense_variant G784R 2350G>A SKCM-US 19 6854071 6854071 single base substitution G A missense_variant G794R 2380G>A SKCM-US 19 6854071 6854071 single base substitution G A missense_variant G816R 2446G>A SKCM-US 19 6854093 6854093 single base substitution G A missense_variant G726E 2177G>A SKCM-US 19 6854093 6854093 single base substitution G A missense_variant G768E 2303G>A SKCM-US 19 6854093 6854093 single base substitution G A missense_variant G791E 2372G>A SKCM-US 19 6854093 6854093 single base substitution G A missense_variant G801E 2402G>A SKCM-US 19 6854093 6854093 single base substitution G A missense_variant G823E 2468G>A SKCM-US 19 6854108 6854108 single base substitution G T missense_variant R731L 2192G>T SKCM-US 19 6854108 6854108 single base substitution G T missense_variant R773L 2318G>T SKCM-US 19 6854108 6854108 single base substitution G T missense_variant R796L 2387G>T SKCM-US 19 6854108 6854108 single base substitution G T missense_variant R806L 2417G>T SKCM-US 19 6854108 6854108 single base substitution G T missense_variant R828L 2483G>T STAD-US 19 6772985 6772985 single base substitution A C 5_prime_UTR_variant STAD-US 19 6772985 6772985 single base substitution A C missense_variant N56T 167A>C STAD-US 19 6821668 6821668 single base substitution G A synonymous_variant P119P 357G>A STAD-US 19 6821668 6821668 single base substitution G A synonymous_variant P54P 162G>A STAD-US 19 6821668 6821668 single base substitution G A synonymous_variant P64P 192G>A STAD-US 19 6821668 6821668 single base substitution G A upstream_gene_variant STAD-US 19 6821674 6821674 single base substitution C A synonymous_variant A121A 363C>A STAD-US 19 6821674 6821674 single base substitution C A synonymous_variant A56A 168C>A STAD-US 19 6821674 6821674 single base substitution C A synonymous_variant A66A 198C>A STAD-US 19 6821674 6821674 single base substitution C A upstream_gene_variant STAD-US 19 6825086 6825086 single base substitution G A exon_variant STAD-US 19 6825086 6825086 single base substitution G A missense_variant R129Q 386G>A STAD-US 19 6825086 6825086 single base substitution G A missense_variant R171Q 512G>A STAD-US 19 6825086 6825086 single base substitution G A missense_variant R194Q 581G>A STAD-US 19 6825086 6825086 single base substitution G A missense_variant R226Q 677G>A STAD-US 19 6825086 6825086 single base substitution G A upstream_gene_variant STAD-US 19 6828175 6828175 single base substitution T A downstream_gene_variant STAD-US 19 6828175 6828175 single base substitution T A missense_variant L242H 725T>A STAD-US 19 6828175 6828175 single base substitution T A missense_variant L284H 851T>A STAD-US 19 6828175 6828175 single base substitution T A missense_variant L307H 920T>A STAD-US 19 6828175 6828175 single base substitution T A missense_variant L339H 1016T>A STAD-US 19 6828175 6828175 single base substitution T A upstream_gene_variant STAD-US 19 6828660 6828660 insertion of <=200bp - AAGCG downstream_gene_variant STAD-US 19 6828660 6828660 insertion of <=200bp - AAGCG exon_variant STAD-US 19 6828660 6828660 insertion of <=200bp - AAGCG frameshift_variant K277KR? STAD-US 19 6828660 6828660 insertion of <=200bp - AAGCG frameshift_variant K319KR? STAD-US 19 6828660 6828660 insertion of <=200bp - AAGCG frameshift_variant K342KR? STAD-US 19 6828660 6828660 insertion of <=200bp - AAGCG frameshift_variant K374KR? STAD-US 19 6832176 6832178 deletion of <=200bp GAA - exon_variant STAD-US 19 6832176 6832178 deletion of <=200bp GAA - inframe_deletion LK394L STAD-US 19 6832176 6832178 deletion of <=200bp GAA - inframe_deletion LK436L STAD-US 19 6832176 6832178 deletion of <=200bp GAA - inframe_deletion LK459L STAD-US 19 6832176 6832178 deletion of <=200bp GAA - inframe_deletion LK491L STAD-US 19 6832176 6832178 deletion of <=200bp GAA - upstream_gene_variant STAD-US 19 6833612 6833612 single base substitution C T downstream_gene_variant STAD-US 19 6833612 6833612 single base substitution C T exon_variant STAD-US 19 6833612 6833612 single base substitution C T missense_variant P465S 1393C>T STAD-US 19 6833612 6833612 single base substitution C T missense_variant P507S 1519C>T STAD-US 19 6833612 6833612 single base substitution C T missense_variant P530S 1588C>T STAD-US 19 6833612 6833612 single base substitution C T missense_variant P562S 1684C>T STAD-US 19 6833612 6833612 single base substitution C T upstream_gene_variant STAD-US 19 6833624 6833624 single base substitution C A downstream_gene_variant STAD-US 19 6833624 6833624 single base substitution C A exon_variant STAD-US 19 6833624 6833624 single base substitution C A synonymous_variant R469R 1405C>A STAD-US 19 6833624 6833624 single base substitution C A synonymous_variant R511R 1531C>A STAD-US 19 6833624 6833624 single base substitution C A synonymous_variant R534R 1600C>A STAD-US 19 6833624 6833624 single base substitution C A synonymous_variant R566R 1696C>A STAD-US 19 6833624 6833624 single base substitution C A upstream_gene_variant STAD-US 19 6833745 6833745 single base substitution G A downstream_gene_variant STAD-US 19 6833745 6833745 single base substitution G A splice_donor_variant STAD-US 19 6833745 6833745 single base substitution G A upstream_gene_variant STAD-US 19 6833932 6833932 single base substitution G A downstream_gene_variant STAD-US 19 6833932 6833932 single base substitution G A missense_variant R485H 1454G>A STAD-US 19 6833932 6833932 single base substitution G A missense_variant R527H 1580G>A STAD-US 19 6833932 6833932 single base substitution G A missense_variant R550H 1649G>A STAD-US 19 6833932 6833932 single base substitution G A missense_variant R582H 1745G>A STAD-US 19 6833932 6833932 single base substitution G A upstream_gene_variant STAD-US 19 6853059 6853059 single base substitution G A synonymous_variant E670E 2010G>A STAD-US 19 6853059 6853059 single base substitution G A synonymous_variant E712E 2136G>A STAD-US 19 6853059 6853059 single base substitution G A synonymous_variant E735E 2205G>A STAD-US 19 6853059 6853059 single base substitution G A synonymous_variant E745E 2235G>A STAD-US 19 6853059 6853059 single base substitution G A synonymous_variant E767E 2301G>A STAD-US 19 6854032 6854032 single base substitution C A missense_variant L706I 2116C>A STAD-US 19 6854032 6854032 single base substitution C A missense_variant L748I 2242C>A STAD-US 19 6854032 6854032 single base substitution C A missense_variant L771I 2311C>A STAD-US 19 6854032 6854032 single base substitution C A missense_variant L781I 2341C>A STAD-US 19 6854032 6854032 single base substitution C A missense_variant L803I 2407C>A UCEC-US 19 6772919 6772919 single base substitution C T missense_variant A34V 101C>T UCEC-US 19 6772919 6772919 single base substitution C T upstream_gene_variant UCEC-US 19 6772959 6772959 single base substitution T C synonymous_variant L47L 141T>C UCEC-US 19 6772959 6772959 single base substitution T C upstream_gene_variant UCEC-US 19 6772993 6772993 single base substitution G T 5_prime_UTR_variant UCEC-US 19 6772993 6772993 single base substitution G T stop_gained E59* 175G>T UCEC-US 19 6820782 6820782 single base substitution G A missense_variant E27K 79G>A UCEC-US 19 6820782 6820782 single base substitution G A missense_variant E37K 109G>A UCEC-US 19 6820782 6820782 single base substitution G A missense_variant E92K 274G>A UCEC-US 19 6820782 6820782 single base substitution G A upstream_gene_variant UCEC-US 19 6820791 6820791 single base substitution G A missense_variant E30K 88G>A UCEC-US 19 6820791 6820791 single base substitution G A missense_variant E40K 118G>A UCEC-US 19 6820791 6820791 single base substitution G A missense_variant E95K 283G>A UCEC-US 19 6820791 6820791 single base substitution G A upstream_gene_variant UCEC-US 19 6821686 6821686 single base substitution G A synonymous_variant G125G 375G>A UCEC-US 19 6821686 6821686 single base substitution G A synonymous_variant G60G 180G>A UCEC-US 19 6821686 6821686 single base substitution G A synonymous_variant G70G 210G>A UCEC-US 19 6821686 6821686 single base substitution G A upstream_gene_variant UCEC-US 19 6822480 6822480 single base substitution G A exon_variant UCEC-US 19 6822480 6822480 single base substitution G A intron_variant UCEC-US 19 6822480 6822480 single base substitution G A synonymous_variant Q148Q 444G>A UCEC-US 19 6822480 6822480 single base substitution G A synonymous_variant Q203Q 609G>A UCEC-US 19 6825086 6825086 single base substitution G T exon_variant UCEC-US 19 6825086 6825086 single base substitution G T missense_variant R129L 386G>T UCEC-US 19 6825086 6825086 single base substitution G T missense_variant R171L 512G>T UCEC-US 19 6825086 6825086 single base substitution G T missense_variant R194L 581G>T UCEC-US 19 6825086 6825086 single base substitution G T missense_variant R226L 677G>T UCEC-US 19 6825086 6825086 single base substitution G T upstream_gene_variant UCEC-US 19 6825376 6825376 single base substitution C T exon_variant UCEC-US 19 6825376 6825376 single base substitution C T synonymous_variant G165G 495C>T UCEC-US 19 6825376 6825376 single base substitution C T synonymous_variant G207G 621C>T UCEC-US 19 6825376 6825376 single base substitution C T synonymous_variant G230G 690C>T UCEC-US 19 6825376 6825376 single base substitution C T synonymous_variant G262G 786C>T UCEC-US 19 6825376 6825376 single base substitution C T upstream_gene_variant UCEC-US 19 6825377 6825377 single base substitution G A exon_variant UCEC-US 19 6825377 6825377 single base substitution G A missense_variant A166T 496G>A UCEC-US 19 6825377 6825377 single base substitution G A missense_variant A208T 622G>A UCEC-US 19 6825377 6825377 single base substitution G A missense_variant A231T 691G>A UCEC-US 19 6825377 6825377 single base substitution G A missense_variant A263T 787G>A UCEC-US 19 6825377 6825377 single base substitution G A upstream_gene_variant UCEC-US 19 6825391 6825391 single base substitution C T exon_variant UCEC-US 19 6825391 6825391 single base substitution C T synonymous_variant Y170Y 510C>T UCEC-US 19 6825391 6825391 single base substitution C T synonymous_variant Y212Y 636C>T UCEC-US 19 6825391 6825391 single base substitution C T synonymous_variant Y235Y 705C>T UCEC-US 19 6825391 6825391 single base substitution C T synonymous_variant Y267Y 801C>T UCEC-US 19 6825391 6825391 single base substitution C T upstream_gene_variant UCEC-US 19 6828647 6828647 single base substitution C T downstream_gene_variant UCEC-US 19 6828647 6828647 single base substitution C T exon_variant UCEC-US 19 6828647 6828647 single base substitution C T synonymous_variant C272C 816C>T UCEC-US 19 6828647 6828647 single base substitution C T synonymous_variant C314C 942C>T UCEC-US 19 6828647 6828647 single base substitution C T synonymous_variant C337C 1011C>T UCEC-US 19 6828647 6828647 single base substitution C T synonymous_variant C369C 1107C>T UCEC-US 19 6828716 6828716 single base substitution C T downstream_gene_variant UCEC-US 19 6828716 6828716 single base substitution C T exon_variant UCEC-US 19 6828716 6828716 single base substitution C T synonymous_variant N295N 885C>T UCEC-US 19 6828716 6828716 single base substitution C T synonymous_variant N337N 1011C>T UCEC-US 19 6828716 6828716 single base substitution C T synonymous_variant N360N 1080C>T UCEC-US 19 6828716 6828716 single base substitution C T synonymous_variant N392N 1176C>T UCEC-US 19 6829812 6829812 single base substitution C T downstream_gene_variant UCEC-US 19 6829812 6829812 single base substitution C T exon_variant UCEC-US 19 6829812 6829812 single base substitution C T intron_variant UCEC-US 19 6829812 6829812 single base substitution C T synonymous_variant L330L 990C>T UCEC-US 19 6829812 6829812 single base substitution C T synonymous_variant L372L 1116C>T UCEC-US 19 6829812 6829812 single base substitution C T synonymous_variant L395L 1185C>T UCEC-US 19 6829812 6829812 single base substitution C T synonymous_variant L427L 1281C>T UCEC-US 19 6833918 6833918 single base substitution G T downstream_gene_variant UCEC-US 19 6833918 6833918 single base substitution G T splice_acceptor_variant UCEC-US 19 6833918 6833918 single base substitution G T upstream_gene_variant UCEC-US 19 6848059 6848059 single base substitution G A missense_variant R591H 1772G>A UCEC-US 19 6848059 6848059 single base substitution G A missense_variant R633H 1898G>A UCEC-US 19 6848059 6848059 single base substitution G A missense_variant R656H 1967G>A UCEC-US 19 6848059 6848059 single base substitution G A missense_variant R666H 1997G>A UCEC-US 19 6848059 6848059 single base substitution G A missense_variant R688H 2063G>A UCEC-US 19 6850766 6850766 single base substitution A G missense_variant T642A 1924A>G UCEC-US 19 6850766 6850766 single base substitution A G missense_variant T684A 2050A>G UCEC-US 19 6850766 6850766 single base substitution A G missense_variant T707A 2119A>G UCEC-US 19 6850766 6850766 single base substitution A G missense_variant T717A 2149A>G UCEC-US 19 6850766 6850766 single base substitution A G missense_variant T739A 2215A>G UCEC-US 19 6854018 6854018 single base substitution G A missense_variant R701Q 2102G>A UCEC-US 19 6854018 6854018 single base substitution G A missense_variant R743Q 2228G>A UCEC-US 19 6854018 6854018 single base substitution G A missense_variant R766Q 2297G>A UCEC-US 19 6854018 6854018 single base substitution G A missense_variant R776Q 2327G>A UCEC-US 19 6854018 6854018 single base substitution G A missense_variant R798Q 2393G>A UCEC-US 19 6854030 6854030 single base substitution C T missense_variant S705L 2114C>T UCEC-US 19 6854030 6854030 single base substitution C T missense_variant S747L 2240C>T UCEC-US 19 6854030 6854030 single base substitution C T missense_variant S770L 2309C>T UCEC-US 19 6854030 6854030 single base substitution C T missense_variant S780L 2339C>T UCEC-US 19 6854030 6854030 single base substitution C T missense_variant S802L 2405C>T UCEC-US 19 6854092 6854092 single base substitution G A missense_variant G726R 2176G>A UCEC-US 19 6854092 6854092 single base substitution G A missense_variant G768R 2302G>A UCEC-US 19 6854092 6854092 single base substitution G A missense_variant G791R 2371G>A UCEC-US 19 6854092 6854092 single base substitution G A missense_variant G801R 2401G>A UCEC-US 19 6854092 6854092 single base substitution G A missense_variant G823R 2467G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EE-A2MJ-06 COSM3541083 c.1017T>C p.L339L Substitution - coding silent 19:6828165-6828165 + 3N62-VS-3T62 COSM4984439 c.599G>A p.R200Q Substitution - Missense 19:6822459-6822459 + ATL125 COSM5707272 c.523_524GA>CT p.E175L Substitution - Missense 19:6822294-6822295 + ESO-0023 COSM1270155 c.2207G>A p.R736Q Substitution - Missense 19:6850747-6850747 + TCGA-CM-6679-01 COSM3693197 c.510C>T p.G170G Substitution - coding silent 19:6822281-6822281 + TCGA-EE-A3AA-06 COSM3541069 c.370A>C p.R124R Substitution - coding silent 19:6821670-6821670 + TCGA-GN-A266-06 COSM3541108 c.2303C>T p.P768L Substitution - Missense 19:6853050-6853050 + TCGA-B5-A0JY-01 COSM223961 c.2393G>A p.R798Q Substitution - Missense 19:6854007-6854007 + ATL106 COSM2728216 c.2368C>T p.R790C Substitution - Missense 19:6853982-6853982 + T3603 COSM3971350 c.1523C>T p.P508L Substitution - Missense 19:6833198-6833198 + 19M COSM5579962 c.412G>A p.D138N Substitution - Missense 19:6821822-6821822 + 49M COSM1003075 c.2405C>T p.S802L Substitution - Missense 19:6854019-6854019 + TCGA-BR-4370-01 COSM4082661 c.2407C>A p.L803I Substitution - Missense 19:6854021-6854021 + ATL247 COSM5707290 c.1501A>G p.M501V Substitution - Missense 19:6832193-6832193 + PD2193a COSM26589 c.1041G>A p.T347T Substitution - coding silent 19:6828436-6828436 + ATL076 COSM5707286 c.1492C>A p.Q498K Substitution - Missense 19:6832184-6832184 + TCGA-06-2563-01 COSM2152911 c.71C>A p.T24N Substitution - Missense 19:6772878-6772878 + ESO-0053 COSM1270153 c.1473_1475delGAA p.K494delK Deletion - In frame 19:6832165-6832167 + GC_325T-GC_325N COSM3836111 c.1696C>T p.R566* Substitution - Nonsense 19:6833613-6833613 + TCGA-EE-A2GU-06 COSM3541109 c.2387G>A p.R796Q Substitution - Missense 19:6854001-6854001 + ATL303 COSM5707278 c.530T>G p.L177R Substitution - Missense 19:6822301-6822301 + TCGA-EE-A29Q-06 COSM3541093 c.1422C>T p.I474I Substitution - coding silent 19:6832114-6832114 + TCGA-IR-A3LA-01 COSM4845283 c.1059G>A p.K353K Substitution - coding silent 19:6828454-6828454 + ATL356 COSM5707284 c.1211A>G p.K404R Substitution - Missense 19:6828846-6828846 + TCGA-GN-A26A-06 COSM3541073 c.400G>A p.E134K Substitution - Missense 19:6821810-6821810 + TCGA-DU-6397-01 COSM3971349 c.1523C>T p.P508L Substitution - Missense 19:6833198-6833198 + TCGA-34-5239-01 COSM713978 c.702G>T p.E234D Substitution - Missense 19:6825100-6825100 + RK222_C01 COSM4780249 c.1231A>C p.I411L Substitution - Missense 19:6828866-6828866 + ATL285 COSM5707284 c.1211A>G p.K404R Substitution - Missense 19:6828846-6828846 + ATL356 COSM5707283 c.1211A>G p.K404R Substitution - Missense 19:6828846-6828846 + T3603 COSM3971349 c.1523C>T p.P508L Substitution - Missense 19:6833198-6833198 + BD135T COSM1003069 c.1107C>T p.C369C Substitution - coding silent 19:6828636-6828636 + SNU-283 COSM2728173 c.750C>T p.F250F Substitution - coding silent 19:6825329-6825329 + TCGA-DK-A2I6-01 COSM1305275 c.1907G>A p.W636* Substitution - Nonsense 19:6836561-6836561 + LAU50_1 COSM233733 c.601G>A p.E201K Substitution - Missense 19:6822461-6822461 + ATL157 COSM223961 c.2393G>A p.R798Q Substitution - Missense 19:6854007-6854007 + ATL181 COSM5707263 c.205T>G p.F69V Substitution - Missense 19:6820702-6820702 + 8031133 COSM3389500 c.2365G>T p.A789S Substitution - Missense 19:6853979-6853979 + TCGA-G4-6310-01 COSM5176582 c.1542C>T p.N514N Substitution - coding silent 19:6833217-6833217 + ATL093 COSM5707267 c.469G>A p.E157K Substitution - Missense 19:6822240-6822240 + PT35 COSM5914217 c.1642C>T p.R548W Substitution - Missense 19:6833559-6833559 + TCGA-EE-A2GT-06 COSM3541077 c.673C>G p.Q225E Substitution - Missense 19:6825071-6825071 + ATL174 COSM5707297 c.1668G>C p.E556D Substitution - Missense 19:6833585-6833585 + ATL255 COSM4771528 c.1668G>T p.E556D Substitution - Missense 19:6833585-6833585 + TCGA-EE-A3J5-06 COSM96277 c.1248G>A p.R416R Substitution - coding silent 19:6828883-6828883 + HCC106 COSM1397442 c.361G>A p.A121T Substitution - Missense 19:6821661-6821661 + TCGA-BR-8589-01 COSM4082642 c.167A>C p.N56T Substitution - Missense 19:6772974-6772974 + ATL277 COSM5707312 c.2465G>T p.R822L Substitution - Missense 19:6854079-6854079 + MO_1094 COSM5552016 c.883G>A p.D295N Substitution - Missense 19:6826667-6826667 + TCGA-G3-A25S-01 COSM4926882 c.826A>G p.R276G Substitution - Missense 19:6825405-6825405 + NB07C COSM1236558 c.872G>T p.S291I Substitution - Missense 19:6826656-6826656 + HN_62237 COSM130144 c.1852C>T p.R618W Substitution - Missense 19:6836506-6836506 + HCC106T COSM1397442 c.361G>A p.A121T Substitution - Missense 19:6821661-6821661 + TCGA-EE-A2GJ-06 COSM3541090 c.1114G>A p.E372K Substitution - Missense 19:6828643-6828643 + TCGA-DU-6397-01 COSM3971350 c.1523C>T p.P508L Substitution - Missense 19:6833198-6833198 + SJHGG057_A COSM4971086 c.2382C>T p.C794C Substitution - coding silent 19:6853996-6853996 + ATL413 COSM5707296 c.1514A>C p.N505T Substitution - Missense 19:6833189-6833189 + ATL324 COSM5707297 c.1668G>C p.E556D Substitution - Missense 19:6833585-6833585 + TCGA-A6-5661-01 COSM1397452 c.2033G>A p.R678Q Substitution - Missense 19:6848018-6848018 + MZ7-mel COSM21871 c.827G>A p.R276K Substitution - Missense 19:6825406-6825406 + PS-352-1D COSM4423979 c.546_547insG p.V183fs*11 Insertion - Frameshift 19:6822317-6822318 + HDC87 COSM4637008 c.354C>G p.T118T Substitution - coding silent 19:6821654-6821654 + 1N47-VS-1T47 COSM4976249 c.1423G>A p.E475K Substitution - Missense 19:6832115-6832115 + TCGA-HT-8564-01 COSM3971345 c.49C>G p.L17V Substitution - Missense 19:6772856-6772856 + CHEWS031 COSM4581565 c.2211G>C p.G737G Substitution - coding silent 19:6850751-6850751 + TCGA-A5-A0VP-01 COSM1003066 c.786C>T p.G262G Substitution - coding silent 19:6825365-6825365 + TCGA-KK-A59X-01 COSM4877728 c.513C>G p.D171E Substitution - Missense 19:6822284-6822284 + T1154 COSM4740180 c.42C>T p.C14C Substitution - coding silent 19:6772849-6772849 + CSCC-4-T COSM3541079 c.798C>T p.L266L Substitution - coding silent 19:6825377-6825377 + ATL303 COSM5707277 c.530T>G p.L177R Substitution - Missense 19:6822301-6822301 + RK225_C01 COSM4944714 c.326T>A p.I109N Substitution - Missense 19:6821626-6821626 + C086 COSM5541528 c.953G>A p.G318E Substitution - Missense 19:6828101-6828101 + TCGA-EE-A3AE-06 COSM3541105 c.2071G>A p.G691R Substitution - Missense 19:6848056-6848056 + TCGA-EW-A1J5-01 COSM5231440 c.879C>G p.H293Q Substitution - Missense 19:6826663-6826663 + TCGA-19-5954-01 COSM2156722 c.1132G>A p.E378K Substitution - Missense 19:6828661-6828661 + A673 COSM4581563 c.1047G>A p.E349E Substitution - coding silent 19:6828442-6828442 + C658 COSM4443368 c.1657G>A p.A553T Substitution - Missense 19:6833574-6833574 + TCGA-A2-A0D0-01 COSM440605 c.1216G>A p.D406N Substitution - Missense 19:6828851-6828851 + ATL077 COSM223961 c.2393G>A p.R798Q Substitution - Missense 19:6854007-6854007 + ATL255 COSM4771527 c.1668G>T p.E556D Substitution - Missense 19:6833585-6833585 + ESO-887 COSM1270154 c.1742delA p.H581fs*75 Deletion - Frameshift 19:6833918-6833918 + TCGA-AZ-4315-01 COSM1397442 c.361G>A p.A121T Substitution - Missense 19:6821661-6821661 + 115-1917-01TD COSM3836110 c.1696C>T p.R566* Substitution - Nonsense 19:6833613-6833613 + 2462859 COSM3389498 c.172C>T p.R58C Substitution - Missense 19:6772979-6772979 + TCGA-BS-A0UV-01 COSM1003061 c.274G>A p.E92K Substitution - Missense 19:6820771-6820771 + ATL242 COSM4771527 c.1668G>T p.E556D Substitution - Missense 19:6833585-6833585 + HCT15 COSM2728170 c.363C>A p.A121A Substitution - coding silent 19:6821663-6821663 + TCGA-GN-A266-06 COSM3541101 c.1713C>T p.F571F Substitution - coding silent 19:6833715-6833715 + ATL413 COSM5707295 c.1514A>C p.N505T Substitution - Missense 19:6833189-6833189 + 2492722 COSM5722798 c.1827C>T p.P609P Substitution - coding silent 19:6836481-6836481 + HCA7 COSM4630545 c.598C>T p.R200W Substitution - Missense 19:6822458-6822458 + ATL077 COSM5707303 c.2393G>A p.R798Q Substitution - Missense 19:6854007-6854007 + HCC106 COSM3707510 c.361G>A p.A121T Substitution - Missense 19:6821661-6821661 + CRC-02T COSM4138269 c.834C>T p.L278L Substitution - coding silent 19:6826618-6826618 + C086 COSM95503 c.1376C>T p.S459L Substitution - Missense 19:6829896-6829896 + TCGA-EI-6882-01 COSM3423343 c.1231A>T p.I411F Substitution - Missense 19:6828866-6828866 + KM12 COSM4288682 c.1291C>T p.L431L Substitution - coding silent 19:6829811-6829811 + TCGA-ER-A2NF-06 COSM3541070 c.373G>A p.G125R Substitution - Missense 19:6821673-6821673 + TCGA-41-2575-01 COSM3404760 c.1113C>T p.N371N Substitution - coding silent 19:6828642-6828642 + CSCC-40-T COSM4460899 c.1183C>T p.Q395* Substitution - Nonsense 19:6828818-6828818 + LIM2405 COSM4642394 c.238T>C p.S80P Substitution - Missense 19:6820735-6820735 + TCGA-A2-A0T5-01 COSM3836109 c.1241T>G p.V414G Substitution - Missense 19:6828876-6828876 + SC_9109 COSM179586 c.2086C>T p.R696W Substitution - Missense 19:6848071-6848071 + ESO-0123 COSM1270156 c.1239G>T p.S413S Substitution - coding silent 19:6828874-6828874 + LUAD-NYU195 COSM371078 c.928G>T p.E310* Substitution - Nonsense 19:6828076-6828076 + ATL246 COSM5707309 c.2443A>G p.K815E Substitution - Missense 19:6854057-6854057 + TCGA-G3-A25S-01 COSM4926883 c.826A>G p.R276G Substitution - Missense 19:6825405-6825405 + TCGA-ER-A2NF-01 COSM3541070 c.373G>A p.G125R Substitution - Missense 19:6821673-6821673 + 19 COSM179577 c.511G>A p.D171N Substitution - Missense 19:6822282-6822282 + TCGA-BR-4370-01 COSM4082662 c.2407C>A p.L803I Substitution - Missense 19:6854021-6854021 + C658 COSM4443367 c.1657G>A p.A553T Substitution - Missense 19:6833574-6833574 + HCT8 COSM4288671 c.964C>A p.L322M Substitution - Missense 19:6828112-6828112 + TCGA-AZ-4315-01 COSM3707510 c.361G>A p.A121T Substitution - Missense 19:6821661-6821661 + Au8 COSM5607195 c.388C>T p.P130S Substitution - Missense 19:6821798-6821798 + TCGA-C5-A2LX-01 COSM4827538 c.366G>C p.Q122H Substitution - Missense 19:6821666-6821666 + 2324292 COSM4771528 c.1668G>T p.E556D Substitution - Missense 19:6833585-6833585 + TCGA-CM-5348-01 COSM5157424 c.1108G>A p.V370M Substitution - Missense 19:6828637-6828637 + ATL353 COSM5707285 c.1492C>A p.Q498K Substitution - Missense 19:6832184-6832184 + CSCC-27-T COSM4479062 c.2290C>T p.P764S Substitution - Missense 19:6853037-6853037 + TCGA-D1-A17Q-01 COSM1003062 c.283G>A p.E95K Substitution - Missense 19:6820780-6820780 + TCGA-AP-A056-01 COSM1003067 c.787G>A p.A263T Substitution - Missense 19:6825366-6825366 + TCGA-EE-A3J5-06 COSM3541092 c.1248G>A p.R416R Substitution - coding silent 19:6828883-6828883 + ATL306 COSM5707276 c.524A>T p.E175V Substitution - Missense 19:6822295-6822295 + TCGA-74-6575-01 COSM3404765 c.2392C>T p.R798* Substitution - Nonsense 19:6854006-6854006 + TCGA-EE-A2MJ-06 COSM3541116 c.2468G>A p.G823E Substitution - Missense 19:6854082-6854082 + TCGA-BR-4368-01 COSM4082648 c.677G>A p.R226Q Substitution - Missense 19:6825075-6825075 + TCGA-AZ-4615-01 COSM3693196 c.504G>A p.A168A Substitution - coding silent 19:6822275-6822275 + DLD1 COSM4082647 c.363C>A p.A121A Substitution - coding silent 19:6821663-6821663 + 409 COSM4430700 c.1373C>T p.S458F Substitution - Missense 19:6829893-6829893 + TCGA-A6-5661-01 COSM5088917 c.2033G>A p.R678Q Substitution - Missense 19:6848018-6848018 + GC_357T-GC_357N COSM4774227 c.2087G>A p.R696Q Substitution - Missense 19:6848072-6848072 + TCGA-D3-A5GU-06 COSM2728173 c.750C>T p.F250F Substitution - coding silent 19:6825329-6825329 + TCGA-EE-A2MJ-06 COSM3541084 c.1017T>C p.L339L Substitution - coding silent 19:6828165-6828165 + HCA7 COSM4630544 c.598C>T p.R200W Substitution - Missense 19:6822458-6822458 + ATL420 COSM5707270 c.521A>G p.Y174C Substitution - Missense 19:6822292-6822292 + AOCS-150-3-1 COSM4127984 c.1679G>C p.R560T Substitution - Missense 19:6833596-6833596 + Pat_76_A COSM5857049 c.2412_2413GG>AA p.E805K Substitution - Missense 19:6854026-6854027 + GBM_IV-20 COSM4967022 c.2145C>T p.V715V Substitution - coding silent 19:6850685-6850685 + ATL063 COSM5707294 c.1502T>G p.M501R Substitution - Missense 19:6832194-6832194 + ATL317 COSM5707265 c.305T>A p.V102E Substitution - Missense 19:6820802-6820802 + P06-1125 COSM248272 c.1182C>A p.D394E Substitution - Missense 19:6828817-6828817 + YUSCA COSM5391087 c.648C>T p.I216I Substitution - coding silent 19:6822508-6822508 + ATL336 COSM5707306 c.2413G>A p.E805K Substitution - Missense 19:6854027-6854027 + Pat_76_A COSM5857050 c.2412_2413GG>AA p.E805K Substitution - Missense 19:6854026-6854027 + BD124T COSM5493790 c.1000C>T p.L334F Substitution - Missense 19:6828148-6828148 + ATL117 COSM5707287 c.1493A>G p.Q498R Substitution - Missense 19:6832185-6832185 + ATL093 COSM5707268 c.469G>A p.E157K Substitution - Missense 19:6822240-6822240 + ITNET_0100_T COSM4963656 c.1449G>A p.E483E Substitution - coding silent 19:6832141-6832141 + ATL068 COSM5707304 c.2393G>C p.R798P Substitution - Missense 19:6854007-6854007 + ATL011 COSM5707300 c.2389G>A p.D797N Substitution - Missense 19:6854003-6854003 + AOCS-150-8-X COSM4127984 c.1679G>C p.R560T Substitution - Missense 19:6833596-6833596 + 2492721 COSM5722798 c.1827C>T p.P609P Substitution - coding silent 19:6836481-6836481 + ATL002 COSM5707305 c.2393G>C p.R798P Substitution - Missense 19:6854007-6854007 + GBM_IV-20 COSM4967023 c.2145C>T p.V715V Substitution - coding silent 19:6850685-6850685 + ATL261 COSM5707268 c.469G>A p.E157K Substitution - Missense 19:6822240-6822240 + RK308_C01 COSM3743194 c.2116G>A p.A706T Substitution - Missense 19:6848101-6848101 + Pat_30_B COSM5857046 c.321_321+1GG>AA p.? Unknown 19:6820818-6820819 + ATL277 COSM5707313 c.2465G>T p.R822L Substitution - Missense 19:6854079-6854079 + DLD1 COSM4288671 c.964C>A p.L322M Substitution - Missense 19:6828112-6828112 + ATL090 COSM5707299 c.2389G>A p.D797N Substitution - Missense 19:6854003-6854003 + TCGA-EB-A5UN-06 COSM3541095 c.1511C>T p.S504F Substitution - Missense 19:6833186-6833186 + TCGA-B5-A0K2-01 COSM1003069 c.1107C>T p.C369C Substitution - coding silent 19:6828636-6828636 + TCGA-AX-A0J0-01 COSM1003071 c.1281C>T p.L427L Substitution - coding silent 19:6829801-6829801 + T3064 COSM4740183 c.153_154insC p.H53fs*7 Insertion - Frameshift 19:6772960-6772961 + TCGA-EE-A2GJ-06 COSM3541089 c.1114G>A p.E372K Substitution - Missense 19:6828643-6828643 + ATL157 COSM5707303 c.2393G>A p.R798Q Substitution - Missense 19:6854007-6854007 + ATL242 COSM4771528 c.1668G>T p.E556D Substitution - Missense 19:6833585-6833585 + YUWAND COSM1711670 c.1222G>A p.E408K Substitution - Missense 19:6828857-6828857 + 16835 COSM48837 c.2402T>C p.L801P Substitution - Missense 19:6854016-6854016 + GC_325T-GC_325N COSM3836110 c.1696C>T p.R566* Substitution - Nonsense 19:6833613-6833613 + SJHGG015_D COSM4969243 c.486C>T p.C162C Substitution - coding silent 19:6822257-6822257 + Pat_30_A COSM5857045 c.321_321+1GG>AA p.? Unknown 19:6820818-6820819 + TCGA-D9-A4Z3-01 COSM3541087 c.1060G>A p.E354K Substitution - Missense 19:6828455-6828455 + TCGA-DA-A3F8-06 COSM1711668 c.157C>T p.H53Y Substitution - Missense 19:6772964-6772964 + SM-4B295 COSM5032445 c.710T>C p.F237S Substitution - Missense 19:6825108-6825108 + TCGA-60-2722-01 COSM713975 c.1624C>G p.Q542E Substitution - Missense 19:6833541-6833541 + ATL347 COSM5707310 c.2465G>A p.R822Q Substitution - Missense 19:6854079-6854079 + T70 COSM4740189 c.2460G>C p.W820C Substitution - Missense 19:6854074-6854074 + pfg143T COSM4749374 c.1535C>T p.T512I Substitution - Missense 19:6833210-6833210 + TCGA-A7-A13F-01 COSM5197937 c.1697G>A p.R566Q Substitution - Missense 19:6833614-6833614 + MO_1012 COSM5566583 c.187C>T p.R63C Substitution - Missense 19:6772994-6772994 + TCGA-FW-A3R5-06 COSM3893842 c.1414C>T p.L472F Substitution - Missense 19:6832106-6832106 + PACA44 COSM1158111 c.172C>T p.R58C Substitution - Missense 19:6772979-6772979 + ATL004 COSM5707305 c.2393G>C p.R798P Substitution - Missense 19:6854007-6854007 + TCGA-HT-8564-01 COSM3971346 c.49C>G p.L17V Substitution - Missense 19:6772856-6772856 + J36_T COSM233733 c.601G>A p.E201K Substitution - Missense 19:6822461-6822461 + 382 COSM4426612 c.540G>A p.S180S Substitution - coding silent 19:6822311-6822311 + KM12 COSM1397443 c.540G>A p.S180S Substitution - coding silent 19:6822311-6822311 + TCGA-F1-A448-01 COSM4082655 c.1696C>A p.R566R Substitution - coding silent 19:6833613-6833613 + 1N64-VS-1T64 COSM4978049 c.705C>T p.I235I Substitution - coding silent 19:6825103-6825103 + ATL181 COSM5707264 c.205T>G p.F69V Substitution - Missense 19:6820702-6820702 + ATL230 COSM5707302 c.2389G>C p.D797H Substitution - Missense 19:6854003-6854003 + 2492723 COSM5722798 c.1827C>T p.P609P Substitution - coding silent 19:6836481-6836481 + ATL154 COSM3541098 c.1666G>A p.E556K Substitution - Missense 19:6833583-6833583 + S00827 COSM5659566 c.360C>A p.I120I Substitution - coding silent 19:6821660-6821660 + T3724 COSM4740186 c.237G>A p.L79L Substitution - coding silent 19:6820734-6820734 + PCSI_0469_Pa_P_526 COSM4808808 c.2462G>A p.W821* Substitution - Nonsense 19:6854076-6854076 + TCGA-EB-A5UN-06 COSM3541096 c.1511C>T p.S504F Substitution - Missense 19:6833186-6833186 + 587276 COSM1232199 c.2013G>A p.W671* Substitution - Nonsense 19:6847998-6847998 + sysucc-311T COSM5464819 c.302A>G p.D101G Substitution - Missense 19:6820799-6820799 + 2492712 COSM5607196 c.388C>T p.P130S Substitution - Missense 19:6821798-6821798 + TCGA-EE-A3AC-06 COSM3541080 c.798C>T p.L266L Substitution - coding silent 19:6825377-6825377 + TCGA-EE-A29D-06 COSM3541098 c.1666G>A p.E556K Substitution - Missense 19:6833583-6833583 + ATL173 COSM5707274 c.523_524GA>TT p.E175L Substitution - Missense 19:6822294-6822295 + C086 COSM5541530 c.375G>A p.G125G Substitution - coding silent 19:6821675-6821675 + C0019T COSM4154411 c.349T>C p.W117R Substitution - Missense 19:6821649-6821649 + YUROC COSM5391082 c.100G>A p.A34T Substitution - Missense 19:6772907-6772907 + ATL252 COSM5707283 c.1211A>G p.K404R Substitution - Missense 19:6828846-6828846 + TCGA-D3-A5GU-06 COSM3541078 c.750C>T p.F250F Substitution - coding silent 19:6825329-6825329 + TCGA-F1-A448-01 COSM4082654 c.1696C>A p.R566R Substitution - coding silent 19:6833613-6833613 + 29 COSM4172253 c.2333-1_2336delGTGGG p.? Unknown 19:6853946-6853950 + SNUH_G10_S1 COSM4001041 c.1996C>G p.L666V Substitution - Missense 19:6843150-6843150 + TCGA-UC-A7PF-01 COSM4830229 c.937C>T p.Q313* Substitution - Nonsense 19:6828085-6828085 + HCC017T COSM5814723 c.1581A>T p.T527T Substitution - coding silent 19:6833256-6833256 + ATL011 COSM5707299 c.2389G>A p.D797N Substitution - Missense 19:6854003-6854003 + PCSI_0469_Pa_P_526 COSM4808807 c.2462G>A p.W821* Substitution - Nonsense 19:6854076-6854076 + AOCS-091-1-3 COSM4127982 c.848A>T p.Y283F Substitution - Missense 19:6826632-6826632 + YUGAFFE COSM1711668 c.157C>T p.H53Y Substitution - Missense 19:6772964-6772964 + ESCC_157 COSM5646318 c.1936G>A p.E646K Substitution - Missense 19:6837006-6837006 + 11M COSM5577195 c.1804G>A p.E602K Substitution - Missense 19:6836458-6836458 + TCGA-BH-A0HF-01 COSM3836111 c.1696C>T p.R566* Substitution - Nonsense 19:6833613-6833613 + YUROC COSM5391083 c.100G>A p.A34T Substitution - Missense 19:6772907-6772907 + ATL076 COSM5707285 c.1492C>A p.Q498K Substitution - Missense 19:6832184-6832184 + LUAD-YINHD COSM349693 c.1990C>T p.Q664* Substitution - Nonsense 19:6843144-6843144 + LUAD-RT-S01777 COSM382055 c.1532C>A p.A511D Substitution - Missense 19:6833207-6833207 + 61 COSM5741381 c.1852C>T p.R618W Substitution - Missense 19:6836506-6836506 + TCGA-FS-A4F9-06 COSM3541064 c.279C>T p.L93L Substitution - coding silent 19:6820776-6820776 + 2293755 COSM4606803 c.1343A>G p.N448S Substitution - Missense 19:6829863-6829863 + PD2193a COSM26589 c.1041G>A p.T347T Substitution - coding silent 19:6828436-6828436 + HCT-15 COSM1680558 c.964C>A p.L322M Substitution - Missense 19:6828112-6828112 + ATL048 COSM5707284 c.1211A>G p.K404R Substitution - Missense 19:6828846-6828846 + LAU50_2 COSM233733 c.601G>A p.E201K Substitution - Missense 19:6822461-6822461 + ATL125 COSM5707271 c.523_524GA>CT p.E175L Substitution - Missense 19:6822294-6822295 + ATL347 COSM5707311 c.2465G>A p.R822Q Substitution - Missense 19:6854079-6854079 + TCGA-BP-4963-01 COSM475459 c.2292C>T p.P764P Substitution - coding silent 19:6853039-6853039 + 2293755 COSM4606802 c.1343A>G p.N448S Substitution - Missense 19:6829863-6829863 + 5 COSM179581 c.1384C>T p.R462* Substitution - Nonsense 19:6829904-6829904 + TCGA-D3-A1Q5-06 COSM3541117 c.2483G>T p.R828L Substitution - Missense 19:6854097-6854097 + NCI-H727 COSM2728184 c.1218C>A p.D406E Substitution - Missense 19:6828853-6828853 + TCGA-GN-A26A-06 COSM3541072 c.400G>A p.E134K Substitution - Missense 19:6821810-6821810 + BD124T COSM5493791 c.1000C>T p.L334F Substitution - Missense 19:6828148-6828148 + TCGA-19-5954-01 COSM3404762 c.1132G>A p.E378K Substitution - Missense 19:6828661-6828661 + PT35 COSM5914215 c.1640A>T p.H547L Substitution - Missense 19:6833557-6833557 + TCGA-EE-A3AA-06 COSM3541068 c.370A>C p.R124R Substitution - coding silent 19:6821670-6821670 + 2492712 COSM5607195 c.388C>T p.P130S Substitution - Missense 19:6821798-6821798 + 2_PRE-TREATMENT COSM1722932 c.2515G>A p.E839K Substitution - Missense 19:6857084-6857084 + YUPAT COSM1711674 c.2512G>A p.E838K Substitution - Missense 19:6857081-6857081 + TCGA-A2-A0D0-01 COSM3541091 c.1216G>A p.D406N Substitution - Missense 19:6828851-6828851 + TCGA-FS-A4F9-06 COSM3541065 c.279C>T p.L93L Substitution - coding silent 19:6820776-6820776 + ATL004 COSM5707304 c.2393G>C p.R798P Substitution - Missense 19:6854007-6854007 + TCGA-AY-6386-01 COSM1397441 c.262C>T p.L88F Substitution - Missense 19:6820759-6820759 + TCGA-D3-A2JN-06 COSM3541061 c.234C>T p.F78F Substitution - coding silent 19:6820731-6820731 + TCGA-BS-A0UJ-01 COSM1003076 c.2467G>A p.G823R Substitution - Missense 19:6854081-6854081 + ATL173 COSM5707273 c.523_524GA>TT p.E175L Substitution - Missense 19:6822294-6822295 + ESCC_157 COSM5646317 c.1936G>A p.E646K Substitution - Missense 19:6837006-6837006 + TCGA-AB-2816-03 COSM1318234 c.1542C>T p.N514N Substitution - coding silent 19:6833217-6833217 + TCGA-CG-4442-01 COSM4082658 c.1745G>A p.R582H Substitution - Missense 19:6833921-6833921 + ATL104 COSM5707283 c.1211A>G p.K404R Substitution - Missense 19:6828846-6828846 + ATL353 COSM5707276 c.524A>T p.E175V Substitution - Missense 19:6822295-6822295 + TCGA-AP-A054-01 COSM1003074 c.2215A>G p.T739A Substitution - Missense 19:6850755-6850755 + C086 COSM3541090 c.1114G>A p.E372K Substitution - Missense 19:6828643-6828643 + ATL179 COSM5707275 c.524A>T p.E175V Substitution - Missense 19:6822295-6822295 + TCGA-CD-5800-01 COSM4082656 c.1731+1G>A p.? Unknown 19:6833734-6833734 + HCC095T COSM5811005 c.241A>G p.T81A Substitution - Missense 19:6820738-6820738 + ATL067 COSM5707280 c.533T>G p.M178R Substitution - Missense 19:6822304-6822304 + ATL306 COSM5707275 c.524A>T p.E175V Substitution - Missense 19:6822295-6822295 + LUAD_E01047 COSM390128 c.252G>C p.E84D Substitution - Missense 19:6820749-6820749 + ATL048 COSM5707283 c.1211A>G p.K404R Substitution - Missense 19:6828846-6828846 + PT35 COSM5914220 c.2333-6C>T p.? Unknown 19:6853941-6853941 + CSCC-38-T COSM4461375 c.1203C>T p.G401G Substitution - coding silent 19:6828838-6828838 + AOCS-150-8-X COSM4127985 c.1679G>C p.R560T Substitution - Missense 19:6833596-6833596 + CSCC-38-T COSM4461376 c.1203C>T p.G401G Substitution - coding silent 19:6828838-6828838 + S01020 COSM5665056 c.1398G>T p.K466N Substitution - Missense 19:6829918-6829918 + ATL104 COSM5707284 c.1211A>G p.K404R Substitution - Missense 19:6828846-6828846 + SC_9109 COSM5566652 c.2086C>T p.R696W Substitution - Missense 19:6848071-6848071 + ATL084 COSM5707310 c.2465G>A p.R822Q Substitution - Missense 19:6854079-6854079 + 103786 COSM96279 c.2178G>A p.L726L Substitution - coding silent 19:6850718-6850718 + TCGA-B7-5816-01 COSM4082652 c.1684C>T p.P562S Substitution - Missense 19:6833601-6833601 + TCGA-B5-A0JY-01 COSM1003068 c.801C>T p.Y267Y Substitution - coding silent 19:6825380-6825380 + PET100T COSM4963657 c.1449G>A p.E483E Substitution - coding silent 19:6832141-6832141 + TCGA-EE-A29D-06 COSM3541097 c.1666G>A p.E556K Substitution - Missense 19:6833583-6833583 + TCGA-BR-6452-01 COSM4082660 c.2301G>A p.E767E Substitution - coding silent 19:6853048-6853048 + TCGA-B7-5816-01 COSM4082653 c.1684C>T p.P562S Substitution - Missense 19:6833601-6833601 + TCGA-D3-A51T-06 COSM3541066 c.310G>A p.D104N Substitution - Missense 19:6820807-6820807 + 587350 COSM1232201 c.1109T>C p.V370A Substitution - Missense 19:6828638-6828638 + ATL309 COSM5707308 c.2443A>G p.K815E Substitution - Missense 19:6854057-6854057 + 2492721 COSM5722797 c.1827C>T p.P609P Substitution - coding silent 19:6836481-6836481 + TCGA-CD-5800-01 COSM4082657 c.1731+1G>A p.? Unknown 19:6833734-6833734 + TCGA-G7-6796-01 COSM3990393 c.1618T>G p.F540V Substitution - Missense 19:6833535-6833535 + ATL265 COSM4771528 c.1668G>T p.E556D Substitution - Missense 19:6833585-6833585 + ATL410 COSM5707314 c.2492G>T p.W831L Substitution - Missense 19:6857061-6857061 + 11M COSM5577194 c.1804G>A p.E602K Substitution - Missense 19:6836458-6836458 + PT46 COSM5929980 c.694G>A p.D232N Substitution - Missense 19:6825092-6825092 + TCGA-A7-A13F-01 COSM440606 c.1697G>A p.R566Q Substitution - Missense 19:6833614-6833614 + TCGA-AP-A051-01 COSM1003072 c.1732-1G>T p.? Unknown 19:6833907-6833907 + MN-294 COSM1578736 c.2137G>T p.V713F Substitution - Missense 19:6850677-6850677 + ATL058 COSM2728216 c.2368C>T p.R790C Substitution - Missense 19:6853982-6853982 + T3064 COSM4740182 c.153_154insC p.H53fs*7 Insertion - Frameshift 19:6772960-6772961 + ATL287 COSM5707270 c.521A>G p.Y174C Substitution - Missense 19:6822292-6822292 + TCGA-BH-A0HF-01 COSM3836110 c.1696C>T p.R566* Substitution - Nonsense 19:6833613-6833613 + T263 COSM4740188 c.2023C>T p.P675S Substitution - Missense 19:6848008-6848008 + HDC87 COSM4637007 c.354C>G p.T118T Substitution - coding silent 19:6821654-6821654 + TCGA-CM-5348-01 COSM1397448 c.1108G>A p.V370M Substitution - Missense 19:6828637-6828637 + 4-74-T1 COSM4745751 c.269G>A p.R90Q Substitution - Missense 19:6820766-6820766 + ATL002 COSM5707304 c.2393G>C p.R798P Substitution - Missense 19:6854007-6854007 + AOCS-091-1-3 COSM4127983 c.848A>T p.Y283F Substitution - Missense 19:6826632-6826632 + 2_RESISTANT COSM1722932 c.2515G>A p.E839K Substitution - Missense 19:6857084-6857084 + 61 COSM5741380 c.1123C>T p.R375* Substitution - Nonsense 19:6828652-6828652 + ATL343 COSM5707298 c.1668G>C p.E556D Substitution - Missense 19:6833585-6833585 + T3724 COSM4740185 c.237G>A p.L79L Substitution - coding silent 19:6820734-6820734 + 112527 COSM95504 c.1551C>A p.D517E Substitution - Missense 19:6833226-6833226 + ATL253 COSM5707311 c.2465G>A p.R822Q Substitution - Missense 19:6854079-6854079 + ATL230 COSM5707301 c.2389G>C p.D797H Substitution - Missense 19:6854003-6854003 + MO_1012 COSM5566582 c.187C>T p.R63C Substitution - Missense 19:6772994-6772994 + TCGA-FW-A3R5-06 COSM3893841 c.1414C>T p.L472F Substitution - Missense 19:6832106-6832106 + ATL217 COSM5707285 c.1492C>A p.Q498K Substitution - Missense 19:6832184-6832184 + TCGA-AA-3821-01 COSM294943 c.188G>A p.R63H Substitution - Missense 19:6772995-6772995 + PCSI_0076_Pa_P COSM3378876 c.1141C>T p.R381* Substitution - Nonsense 19:6828670-6828670 + sysucc-311T COSM5464820 c.302A>G p.D101G Substitution - Missense 19:6820799-6820799 + ME009T COSM223961 c.2393G>A p.R798Q Substitution - Missense 19:6854007-6854007 + ATL285 COSM5707283 c.1211A>G p.K404R Substitution - Missense 19:6828846-6828846 + PD6406a COSM5768926 c.36C>A p.I12I Substitution - coding silent 19:6772843-6772843 + TCGA-F4-6570-01 COSM4426612 c.540G>A p.S180S Substitution - coding silent 19:6822311-6822311 + Pat_76_B COSM5857050 c.2412_2413GG>AA p.E805K Substitution - Missense 19:6854026-6854027 + ATL261 COSM5707267 c.469G>A p.E157K Substitution - Missense 19:6822240-6822240 + 2492720 COSM5722798 c.1827C>T p.P609P Substitution - coding silent 19:6836481-6836481 + ATL032 COSM5707268 c.469G>A p.E157K Substitution - Missense 19:6822240-6822240 + TCGA-GN-A266-06 COSM3541107 c.2303C>T p.P768L Substitution - Missense 19:6853050-6853050 + 2492714 COSM5607196 c.388C>T p.P130S Substitution - Missense 19:6821798-6821798 + ATL117 COSM5707288 c.1493A>G p.Q498R Substitution - Missense 19:6832185-6832185 + PCSI_0118_Pa_P COSM1270155 c.2207G>A p.R736Q Substitution - Missense 19:6850747-6850747 + TCGA-D9-A4Z3-01 COSM3541088 c.1060G>A p.E354K Substitution - Missense 19:6828455-6828455 + TCGA-B5-A0JY-01 COSM1590434 c.101C>T p.A34V Substitution - Missense 19:6772908-6772908 + 2324292 COSM4771527 c.1668G>T p.E556D Substitution - Missense 19:6833585-6833585 + TCGA-FW-A3TU-06 COSM3541104 c.1905C>T p.N635N Substitution - coding silent 19:6836559-6836559 + 8031133 COSM3389499 c.2365G>T p.A789S Substitution - Missense 19:6853979-6853979 + AOCS-119-3-9 COSM3404761 c.1113C>T p.N371N Substitution - coding silent 19:6828642-6828642 + LUAD-CHTN-Z4716A COSM361933 c.2460G>A p.W820* Substitution - Nonsense 19:6854074-6854074 + ATL217 COSM5707286 c.1492C>A p.Q498K Substitution - Missense 19:6832184-6832184 + ATL084 COSM5707311 c.2465G>A p.R822Q Substitution - Missense 19:6854079-6854079 + PDA_070 COSM3836111 c.1696C>T p.R566* Substitution - Nonsense 19:6833613-6833613 + TCGA-39-5030-01 COSM713977 c.1173G>C p.E391D Substitution - Missense 19:6828702-6828702 + ATL265 COSM4771527 c.1668G>T p.E556D Substitution - Missense 19:6833585-6833585 + S00827 COSM316447 c.360C>A p.I120I Substitution - coding silent 19:6821660-6821660 + TCGA-BR-4368-01 COSM4082649 c.677G>A p.R226Q Substitution - Missense 19:6825075-6825075 + ATL305 COSM5707268 c.469G>A p.E157K Substitution - Missense 19:6822240-6822240 + TCGA-EE-A2GU-06 COSM3541110 c.2387G>A p.R796Q Substitution - Missense 19:6854001-6854001 + LUAD-NYU284 COSM372904 c.665A>T p.K222M Substitution - Missense 19:6825063-6825063 + C086 COSM5541527 c.1376C>T p.S459L Substitution - Missense 19:6829896-6829896 + Pat_15_B COSM5857048 c.1053G>A p.M351I Substitution - Missense 19:6828448-6828448 + TCGA-ER-A2NF-06 COSM3541071 c.373G>A p.G125R Substitution - Missense 19:6821673-6821673 + ATL147 COSM4771527 c.1668G>T p.E556D Substitution - Missense 19:6833585-6833585 + TCGA-B0-5699-01 COSM475457 c.1069C>T p.R357W Substitution - Missense 19:6828464-6828464 + YUSIPU COSM2728165 c.270G>A p.R90R Substitution - coding silent 19:6820767-6820767 + 8051719 COSM4138270 c.834C>T p.L278L Substitution - coding silent 19:6826618-6826618 + SNUH_G10_S1 COSM4001042 c.1996C>G p.L666V Substitution - Missense 19:6843150-6843150 + T263 COSM4740187 c.2023C>T p.P675S Substitution - Missense 19:6848008-6848008 + 2492714 COSM5607195 c.388C>T p.P130S Substitution - Missense 19:6821798-6821798 + YUROG COSM5391086 c.259_260GG>AA p.G87N Substitution - Missense 19:6820756-6820757 + S01022 COSM5701743 c.2406_2407GC>TT p.L803F Substitution - Missense 19:6854020-6854021 + TCGA-AA-A010-01 COSM286429 c.1854G>A p.R618R Substitution - coding silent 19:6836508-6836508 + ZZUFHECRKL-G005T COSM5435252 c.300C>T p.F100F Substitution - coding silent 19:6820797-6820797 + TCGA-EJ-8470-01 COSM3783302 c.503C>T p.A168V Substitution - Missense 19:6822274-6822274 + TCGA-BG-A0VW-01 COSM1003058 c.141T>C p.L47L Substitution - coding silent 19:6772948-6772948 + PACA-44-T COSM3389498 c.172C>T p.R58C Substitution - Missense 19:6772979-6772979 + ATL125 COSM5707291 c.1501A>T p.M501L Substitution - Missense 19:6832193-6832193 + HCC095T COSM5811006 c.241A>G p.T81A Substitution - Missense 19:6820738-6820738 + PR-09-5700 COSM248271 c.741T>C p.H247H Substitution - coding silent 19:6825320-6825320 + YUKIL COSM1711669 c.1009C>T p.H337Y Substitution - Missense 19:6828157-6828157 + GC_357T-GC_357N COSM4774228 c.2087G>A p.R696Q Substitution - Missense 19:6848072-6848072 + 081T COSM1730828 c.471G>T p.E157D Substitution - Missense 19:6822242-6822242 + PD2161a COSM28413 c.1876G>A p.E626K Substitution - Missense 19:6836530-6836530 + J36_T COSM3960674 c.601G>A p.E201K Substitution - Missense 19:6822461-6822461 + TCGA-EJ-8470-01 COSM3783301 c.503C>T p.A168V Substitution - Missense 19:6822274-6822274 + 3N38-VS-3T38 COSM4981355 c.621G>C p.E207D Substitution - Missense 19:6822481-6822481 + SJHGG015_D COSM4969244 c.486C>T p.C162C Substitution - coding silent 19:6822257-6822257 + Au4 COSM2728173 c.750C>T p.F250F Substitution - coding silent 19:6825329-6825329 + TCGA-D3-A2JN-06 COSM3541060 c.234C>T p.F78F Substitution - coding silent 19:6820731-6820731 + B66 COSM1751241 c.2334G>T p.V778V Substitution - coding silent 19:6853948-6853948 + TCGA-06-2563-01 COSM3404759 c.71C>A p.T24N Substitution - Missense 19:6772878-6772878 + 2492723 COSM5722797 c.1827C>T p.P609P Substitution - coding silent 19:6836481-6836481 + KM12 COSM4426612 c.540G>A p.S180S Substitution - coding silent 19:6822311-6822311 + TCGA-F5-6814-01 COSM3423342 c.418G>T p.D140Y Substitution - Missense 19:6821828-6821828 + TCGA-EE-A2A6-06 COSM3541100 c.1702G>A p.G568R Substitution - Missense 19:6833619-6833619 + TCGA-EE-A3AC-06 COSM3541074 c.448G>A p.D150N Substitution - Missense 19:6821858-6821858 + HCT15 COSM4082647 c.363C>A p.A121A Substitution - coding silent 19:6821663-6821663 + S01861 COSM5671183 c.2087G>T p.R696L Substitution - Missense 19:6848072-6848072 + 2492726 COSM5725128 c.1352G>A p.S451N Substitution - Missense 19:6829872-6829872 + TCGA-BR-7851-01 COSM2728169 c.357G>A p.P119P Substitution - coding silent 19:6821657-6821657 + HCC017T COSM5814724 c.1581A>T p.T527T Substitution - coding silent 19:6833256-6833256 + CSCC-4-T COSM3541080 c.798C>T p.L266L Substitution - coding silent 19:6825377-6825377 + HCC054T COSM5809638 c.2166A>T p.T722T Substitution - coding silent 19:6850706-6850706 + ATL315 COSM5707304 c.2393G>C p.R798P Substitution - Missense 19:6854007-6854007 + 61 COSM5741379 c.1123C>T p.R375* Substitution - Nonsense 19:6828652-6828652 + DLD1 COSM2728170 c.363C>A p.A121A Substitution - coding silent 19:6821663-6821663 + TCGA-EE-A29D-06 COSM3541086 c.1020C>T p.L340L Substitution - coding silent 19:6828168-6828168 + TCGA-FJ-A3ZE-01 COSM3797677 c.1117G>T p.V373F Substitution - Missense 19:6828646-6828646 + ATL324 COSM5707298 c.1668G>C p.E556D Substitution - Missense 19:6833585-6833585 + TCGA-AX-A05Z-01 COSM1003065 c.677G>T p.R226L Substitution - Missense 19:6825075-6825075 + TCGA-DU-7309-01 COSM3971348 c.1040C>T p.T347M Substitution - Missense 19:6828435-6828435 + 631076 COSM324237 c.2209G>T p.G737W Substitution - Missense 19:6850749-6850749 + 61 COSM130144 c.1852C>T p.R618W Substitution - Missense 19:6836506-6836506 + B66-Tumor COSM1751241 c.2334G>T p.V778V Substitution - coding silent 19:6853948-6853948 + 3N38-VS-3T38 COSM4981356 c.621G>C p.E207D Substitution - Missense 19:6822481-6822481 + 1N47-VS-1T47 COSM1397450 c.1423G>A p.E475K Substitution - Missense 19:6832115-6832115 + ATL067 COSM5707279 c.533T>G p.M178R Substitution - Missense 19:6822304-6822304 + Pat_30_A COSM5857046 c.321_321+1GG>AA p.? Unknown 19:6820818-6820819 + TCGA-AA-A01Z-01 COSM300453 c.510C>T p.G170G Substitution - coding silent 19:6822281-6822281 + SNU-283 COSM3541078 c.750C>T p.F250F Substitution - coding silent 19:6825329-6825329 + 547 COSM5612943 c.230C>A p.T77N Substitution - Missense 19:6820727-6820727 + YULAN COSM1711673 c.2044G>A p.E682K Substitution - Missense 19:6848029-6848029 + TCGA-74-6575-01 COSM3404766 c.2392C>T p.R798* Substitution - Nonsense 19:6854006-6854006 + HCC162T COSM3707511 c.2332+7G>A p.? Unknown 19:6853086-6853086 + ATL154 COSM3541097 c.1666G>A p.E556K Substitution - Missense 19:6833583-6833583 + TCGA-EE-A3AE-06 COSM3541106 c.2071G>A p.G691R Substitution - Missense 19:6848056-6848056 + TCGA-G3-A7M9-01 COSM4922563 c.1713C>A p.F571L Substitution - Missense 19:6833715-6833715 + SM-4B295 COSM5032446 c.710T>C p.F237S Substitution - Missense 19:6825108-6825108 + CHOL12 COSM1744717 c.1643G>T p.R548L Substitution - Missense 19:6833560-6833560 + 2492711 COSM5607196 c.388C>T p.P130S Substitution - Missense 19:6821798-6821798 + PD6406a COSM5768927 c.36C>A p.I12I Substitution - coding silent 19:6772843-6772843 + ATL168 COSM5707281 c.1195C>T p.H399Y Substitution - Missense 19:6828830-6828830 + Pat_66_A COSM4479063 c.2290C>T p.P764S Substitution - Missense 19:6853037-6853037 + ESO-164 COSM1270157 c.2070C>T p.D690D Substitution - coding silent 19:6848055-6848055 + TCGA-D3-A51T-06 COSM3541067 c.310G>A p.D104N Substitution - Missense 19:6820807-6820807 + TCGA-EW-A1J3-01 COSM5231347 c.2143G>A p.V715I Substitution - Missense 19:6850683-6850683 + C0019T COSM4154410 c.349T>C p.W117R Substitution - Missense 19:6821649-6821649 + DLD1 COSM1680558 c.964C>A p.L322M Substitution - Missense 19:6828112-6828112 + 2492726 COSM5725127 c.1352G>A p.S451N Substitution - Missense 19:6829872-6829872 + NCI-H727 COSM4288680 c.1218C>A p.D406E Substitution - Missense 19:6828853-6828853 + 1255_T COSM3960675 c.1737A>G p.K579K Substitution - coding silent 19:6833913-6833913 + ITNET_0100_T COSM4963657 c.1449G>A p.E483E Substitution - coding silent 19:6832141-6832141 + Pat_30_B COSM5857045 c.321_321+1GG>AA p.? Unknown 19:6820818-6820819 + TCGA-BR-8589-01 COSM4082643 c.167A>C p.N56T Substitution - Missense 19:6772974-6772974 + ATL247 COSM5707289 c.1501A>G p.M501V Substitution - Missense 19:6832193-6832193 + TCGA-ER-A19N-06 COSM3541112 c.2391C>T p.D797D Substitution - coding silent 19:6854005-6854005 + HF-23896 COSM95504 c.1551C>A p.D517E Substitution - Missense 19:6833226-6833226 + ATL032 COSM5707267 c.469G>A p.E157K Substitution - Missense 19:6822240-6822240 + 2492725 COSM5725128 c.1352G>A p.S451N Substitution - Missense 19:6829872-6829872 + RK057_C01 COSM3701577 c.2130-3C>T p.? Unknown 19:6850667-6850667 + Pat_15_B COSM5857047 c.1053G>A p.M351I Substitution - Missense 19:6828448-6828448 + MZ7-mel COSM21871 c.827G>A p.R276K Substitution - Missense 19:6825406-6825406 + 2492713 COSM5607196 c.388C>T p.P130S Substitution - Missense 19:6821798-6821798 + PCSI_0268_Pa_P_526 COSM4961693 c.1224A>G p.E408E Substitution - coding silent 19:6828859-6828859 + Pat_15_A COSM5857048 c.1053G>A p.M351I Substitution - Missense 19:6828448-6828448 + ATL058 COSM4288718 c.2368C>T p.R790C Substitution - Missense 19:6853982-6853982 + ATL147 COSM4771528 c.1668G>T p.E556D Substitution - Missense 19:6833585-6833585 + TCGA-D1-A103-01 COSM1003064 c.609G>A p.Q203Q Substitution - coding silent 19:6822469-6822469 + PACA-44-T COSM1158111 c.172C>T p.R58C Substitution - Missense 19:6772979-6772979 + S00827 COSM316447 c.360C>A p.I120I Substitution - coding silent 19:6821660-6821660 + 2492713 COSM5607195 c.388C>T p.P130S Substitution - Missense 19:6821798-6821798 + YUROG COSM5391085 c.259_260GG>AA p.G87N Substitution - Missense 19:6820756-6820757 + 19 COSM5123075 c.511G>A p.D171N Substitution - Missense 19:6822282-6822282 + HCT8 COSM1680558 c.964C>A p.L322M Substitution - Missense 19:6828112-6828112 + ZZUFHECRKL-G005T COSM5435253 c.300C>T p.F100F Substitution - coding silent 19:6820797-6820797 + TCGA-EE-A3AC-06 COSM3541075 c.448G>A p.D150N Substitution - Missense 19:6821858-6821858 + TCGA-EJ-A65M-01 COSM4392368 c.157C>A p.H53N Substitution - Missense 19:6772964-6772964 + 16668 COSM48836 c.175G>A p.E59K Substitution - Missense 19:6772982-6772982 + HCC054T COSM5809639 c.2166A>T p.T722T Substitution - coding silent 19:6850706-6850706 + BD121T COSM3541075 c.448G>A p.D150N Substitution - Missense 19:6821858-6821858 + KM12 COSM2728186 c.1291C>T p.L431L Substitution - coding silent 19:6829811-6829811 + CSCC-17-T COSM4561064 c.868G>A p.A290T Substitution - Missense 19:6826652-6826652 + TCGA-FW-A3TU-06 COSM3541103 c.1905C>T p.N635N Substitution - coding silent 19:6836559-6836559 + TCGA-EE-A20C-06 COSM3541060 c.234C>T p.F78F Substitution - coding silent 19:6820731-6820731 + ATL353 COSM5707286 c.1492C>A p.Q498K Substitution - Missense 19:6832184-6832184 + T70 COSM4740190 c.2460G>C p.W820C Substitution - Missense 19:6854074-6854074 + ATL024 COSM5707262 c.77A>G p.D26G Substitution - Missense 19:6772884-6772884 + SS6003111 COSM5033047 c.51G>A p.L17L Substitution - coding silent 19:6772858-6772858 + ATL315 COSM5707305 c.2393G>C p.R798P Substitution - Missense 19:6854007-6854007 + TCGA-BS-A0UL-01 COSM1003075 c.2405C>T p.S802L Substitution - Missense 19:6854019-6854019 + TCGA-FS-A4FD-06 COSM3541113 c.2446G>A p.G816R Substitution - Missense 19:6854060-6854060 + 5 COSM5013347 c.1384C>T p.R462* Substitution - Nonsense 19:6829904-6829904 + ATL011 COSM5707308 c.2443A>G p.K815E Substitution - Missense 19:6854057-6854057 + A673 COSM4581562 c.1047G>A p.E349E Substitution - coding silent 19:6828442-6828442 + ATL011 COSM5707309 c.2443A>G p.K815E Substitution - Missense 19:6854057-6854057 + TCGA-AA-3672-01 COSM267744 c.1744C>T p.R582C Substitution - Missense 19:6833920-6833920 + TCGA-D9-A4Z6-01 COSM3541091 c.1216G>A p.D406N Substitution - Missense 19:6828851-6828851 + ATL305 COSM5707267 c.469G>A p.E157K Substitution - Missense 19:6822240-6822240 + 3N62-VS-3T62 COSM4984440 c.599G>A p.R200Q Substitution - Missense 19:6822459-6822459 + TCGA-24-1546-01 COSM78760 c.1305G>T p.K435N Substitution - Missense 19:6829825-6829825 + ATL342 COSM4771528 c.1668G>T p.E556D Substitution - Missense 19:6833585-6833585 + Pat_66_A COSM4479062 c.2290C>T p.P764S Substitution - Missense 19:6853037-6853037 + TCGA-G3-A7M9-01 COSM4922562 c.1713C>A p.F571L Substitution - Missense 19:6833715-6833715 + W040 COSM308179 c.2383G>A p.A795T Substitution - Missense 19:6853997-6853997 + ATL141 COSM5707311 c.2465G>A p.R822Q Substitution - Missense 19:6854079-6854079 + TCGA-36-1578-01 COSM82442 c.1254C>G p.S418S Substitution - coding silent 19:6828889-6828889 + ATL168 COSM5707269 c.521A>G p.Y174C Substitution - Missense 19:6822292-6822292 + TCGA-FW-A3R5-06 COSM3893846 c.1578C>T p.T526T Substitution - coding silent 19:6833253-6833253 + TCGA-BP-4981-01 COSM475458 c.1237T>C p.S413P Substitution - Missense 19:6828872-6828872 + PD13763a COSM5773506 c.1611-5C>T p.? Unknown 19:6833523-6833523 + HCC162 COSM3707512 c.2332+7G>A p.? Unknown 19:6853086-6853086 + T578 COSM4740184 c.188G>A p.R63H Substitution - Missense 19:6772995-6772995 + TCGA-G7-6796-01 COSM3990392 c.1618T>G p.F540V Substitution - Missense 19:6833535-6833535 + 409 COSM4430699 c.1373C>T p.S458F Substitution - Missense 19:6829893-6829893 + ATL287 COSM5707269 c.521A>G p.Y174C Substitution - Missense 19:6822292-6822292 + TCGA-D9-A4Z6-01 COSM440605 c.1216G>A p.D406N Substitution - Missense 19:6828851-6828851 + TCGA-FJ-A3ZE-01 COSM3797678 c.1117G>T p.V373F Substitution - Missense 19:6828646-6828646 + PD2161a COSM28413 c.1876G>A p.E626K Substitution - Missense 19:6836530-6836530 + ATL353 COSM5707275 c.524A>T p.E175V Substitution - Missense 19:6822295-6822295 + RK057_C01 COSM3701576 c.2130-3C>T p.? Unknown 19:6850667-6850667 + SNU-C2B COSM4336700 c.1473_1475delGAA p.K494delK Deletion - In frame 19:6832165-6832167 + I2L-P28-Tumor-Organoid COSM5365429 c.951C>T p.N317N Substitution - coding silent 19:6828099-6828099 + CSCC-17-T COSM4561065 c.868G>A p.A290T Substitution - Missense 19:6826652-6826652 + OSCC-GB_00960111 COSM4885511 c.461A>C p.E154A Substitution - Missense 19:6822232-6822232 + TCGA-BP-4759-01 COSM3363075 c.1041G>A p.T347T Substitution - coding silent 19:6828436-6828436 + T3064 COSM3541091 c.1216G>A p.D406N Substitution - Missense 19:6828851-6828851 + ATL252 COSM5707284 c.1211A>G p.K404R Substitution - Missense 19:6828846-6828846 + 522_T COSM3960672 c.519C>A p.I173I Substitution - coding silent 19:6822290-6822290 + TCGA-12-3653-01 COSM3404763 c.1997T>C p.L666P Substitution - Missense 19:6843151-6843151 + C086 COSM3541089 c.1114G>A p.E372K Substitution - Missense 19:6828643-6828643 + ESO-1733 COSM1270158 c.2206C>T p.R736W Substitution - Missense 19:6850746-6850746 + AOCS-150-3-1 COSM4127985 c.1679G>C p.R560T Substitution - Missense 19:6833596-6833596 + TCGA-ER-A19F-06 COSM3541062 c.258C>T p.F86F Substitution - coding silent 19:6820755-6820755 + PT46 COSM5929979 c.694G>A p.D232N Substitution - Missense 19:6825092-6825092 + ATL030 COSM4771527 c.1668G>T p.E556D Substitution - Missense 19:6833585-6833585 + PT35 COSM5914219 c.2333-6C>T p.? Unknown 19:6853941-6853941 + TCGA-41-2575-01 COSM3404761 c.1113C>T p.N371N Substitution - coding silent 19:6828642-6828642 + 29 COSM4172254 c.2333-1_2336delGTGGG p.? Unknown 19:6853946-6853950 + CRC-02T COSM4138270 c.834C>T p.L278L Substitution - coding silent 19:6826618-6826618 + PT48 COSM5933960 c.2102A>T p.D701V Substitution - Missense 19:6848087-6848087 + TCGA-EE-A29D-06 COSM3541085 c.1020C>T p.L340L Substitution - coding silent 19:6828168-6828168 + 2492724 COSM5725128 c.1352G>A p.S451N Substitution - Missense 19:6829872-6829872 + LUAD-S01302 COSM395743 c.1381_1382GA>AC p.D461>? Complex 19:6829901-6829902 + pfg143T COSM4749375 c.1535C>T p.T512I Substitution - Missense 19:6833210-6833210 + ATL410 COSM5707315 c.2492G>T p.W831L Substitution - Missense 19:6857061-6857061 + CSCC-27-T COSM4479063 c.2290C>T p.P764S Substitution - Missense 19:6853037-6853037 + SNU-C2B COSM1270153 c.1473_1475delGAA p.K494delK Deletion - In frame 19:6832165-6832167 + 547 COSM5612942 c.230C>A p.T77N Substitution - Missense 19:6820727-6820727 + ATL246 COSM5707308 c.2443A>G p.K815E Substitution - Missense 19:6854057-6854057 + TCGA-FS-A4FD-06 COSM3541114 c.2446G>A p.G816R Substitution - Missense 19:6854060-6854060 + TCGA-F4-6570-01 COSM1397443 c.540G>A p.S180S Substitution - coding silent 19:6822311-6822311 + 115-1917-01TD COSM3836111 c.1696C>T p.R566* Substitution - Nonsense 19:6833613-6833613 + 2492722 COSM5722797 c.1827C>T p.P609P Substitution - coding silent 19:6836481-6836481 + HCC162 COSM3707511 c.2332+7G>A p.? Unknown 19:6853086-6853086 + ATL420 COSM5707269 c.521A>G p.Y174C Substitution - Missense 19:6822292-6822292 + ATL419 COSM5707283 c.1211A>G p.K404R Substitution - Missense 19:6828846-6828846 + ATL253 COSM5707310 c.2465G>A p.R822Q Substitution - Missense 19:6854079-6854079 + S01022 COSM5701744 c.2406_2407GC>TT p.L803F Substitution - Missense 19:6854020-6854021 + TCGA-EW-A1J5-01 COSM1481651 c.879C>G p.H293Q Substitution - Missense 19:6826663-6826663 + TCGA-24-1556-01 COSM78759 c.1181A>G p.D394G Substitution - Missense 19:6828816-6828816 + ATL415 COSM4771528 c.1668G>T p.E556D Substitution - Missense 19:6833585-6833585 + PT35 COSM5914216 c.1640A>T p.H547L Substitution - Missense 19:6833557-6833557 + TCGA-FW-A3R5-06 COSM3893844 c.1443C>T p.G481G Substitution - coding silent 19:6832135-6832135 + Au8 COSM5607196 c.388C>T p.P130S Substitution - Missense 19:6821798-6821798 + ATL054 COSM5707278 c.530T>G p.L177R Substitution - Missense 19:6822301-6822301 + pfg016T COSM1641271 c.2088G>A p.R696R Substitution - coding silent 19:6848073-6848073 + TCGA-B4-5835-01 COSM1494562 c.2349T>G p.Y783* Substitution - Nonsense 19:6853963-6853963 + C086 COSM5541529 c.953G>A p.G318E Substitution - Missense 19:6828101-6828101 + ATL174 COSM5707298 c.1668G>C p.E556D Substitution - Missense 19:6833585-6833585 + TCGA-UC-A7PF-01 COSM4830230 c.937C>T p.Q313* Substitution - Nonsense 19:6828085-6828085 + T3064 COSM440605 c.1216G>A p.D406N Substitution - Missense 19:6828851-6828851 + ATL106 COSM4288718 c.2368C>T p.R790C Substitution - Missense 19:6853982-6853982 + 104961 COSM96277 c.1248G>A p.R416R Substitution - coding silent 19:6828883-6828883 + TCGA-FW-A3R5-06 COSM3893843 c.1443C>T p.G481G Substitution - coding silent 19:6832135-6832135 + TCGA-GN-A266-06 COSM3541102 c.1713C>T p.F571F Substitution - coding silent 19:6833715-6833715 + SS6003111 COSM5033048 c.51G>A p.L17L Substitution - coding silent 19:6772858-6772858 + LUAD-E00897 COSM364450 c.1021C>T p.Q341* Substitution - Nonsense 19:6828169-6828169 + 112527 COSM96278 c.1650G>C p.R550R Substitution - coding silent 19:6833567-6833567 + LUAD-YINHD COSM349692 c.928-1G>T p.? Unknown 19:6828075-6828075 + TCGA-BS-A0UV-01 COSM1003059 c.175G>T p.E59* Substitution - Nonsense 19:6772982-6772982 + TCGA-19-5954 COSM2156722 c.1132G>A p.E378K Substitution - Missense 19:6828661-6828661 + TCGA-D3-A3ML-06 COSM3541082 c.1014C>T p.L338L Substitution - coding silent 19:6828162-6828162 + C086 COSM1003063 c.375G>A p.G125G Substitution - coding silent 19:6821675-6821675 + 2497781 COSM5751031 c.1634G>T p.R545L Substitution - Missense 19:6833551-6833551 + 103975 COSM95503 c.1376C>T p.S459L Substitution - Missense 19:6829896-6829896 + TCGA-BR-4201-01 COSM2728170 c.363C>A p.A121A Substitution - coding silent 19:6821663-6821663 + PDA_070 COSM3836110 c.1696C>T p.R566* Substitution - Nonsense 19:6833613-6833613 + TCGA-BR-4201-01 COSM4082647 c.363C>A p.A121A Substitution - coding silent 19:6821663-6821663 + HCT15 COSM4288671 c.964C>A p.L322M Substitution - Missense 19:6828112-6828112 + LP6007414-DNA_A02 COSM4409499 c.894C>T p.A298A Substitution - coding silent 19:6826678-6826678 + TCGA-BR-A4CR-01 COSM4082651 c.1016T>A p.L339H Substitution - Missense 19:6828164-6828164 + 587278 COSM1232200 c.773T>C p.L258P Substitution - Missense 19:6825352-6825352 + ATL415 COSM4771527 c.1668G>T p.E556D Substitution - Missense 19:6833585-6833585 + ATL090 COSM5707300 c.2389G>A p.D797N Substitution - Missense 19:6854003-6854003 + RK308_C01 COSM3743193 c.497A>C p.E166A Substitution - Missense 19:6822268-6822268 + TCGA-D3-A1Q5-06 COSM2728220 c.2483G>T p.R828L Substitution - Missense 19:6854097-6854097 + TCGA-AA-A010-01 COSM286430 c.2241G>T p.Q747H Substitution - Missense 19:6852988-6852988 + 2492724 COSM5725127 c.1352G>A p.S451N Substitution - Missense 19:6829872-6829872 + ATL142 COSM5707311 c.2465G>A p.R822Q Substitution - Missense 19:6854079-6854079 + TCGA-FW-A3R5-06 COSM3893845 c.1578C>T p.T526T Substitution - coding silent 19:6833253-6833253 + RK225_C01 COSM4944715 c.326T>A p.I109N Substitution - Missense 19:6821626-6821626 + ATL179 COSM5707276 c.524A>T p.E175V Substitution - Missense 19:6822295-6822295 + YUDEDE COSM1711671 c.1645T>G p.C549G Substitution - Missense 19:6833562-6833562 + TCGA-EE-A29Q-06 COSM3541094 c.1422C>T p.I474I Substitution - coding silent 19:6832114-6832114 + TCGA-D3-A5GU-06 COSM3541060 c.234C>T p.F78F Substitution - coding silent 19:6820731-6820731 + RK308_C01 COSM3743192 c.497A>C p.E166A Substitution - Missense 19:6822268-6822268 + TCGA-EJ-A65M-01 COSM4392369 c.157C>A p.H53N Substitution - Missense 19:6772964-6772964 + ATL309 COSM5707309 c.2443A>G p.K815E Substitution - Missense 19:6854057-6854057 + TCGA-ER-A19N-06 COSM3541111 c.2391C>T p.D797D Substitution - coding silent 19:6854005-6854005 + TCGA-DK-A1AC-01 COSM1305274 c.1329C>T p.L443L Substitution - coding silent 19:6829849-6829849 + ATL308 COSM5707284 c.1211A>G p.K404R Substitution - Missense 19:6828846-6828846 + TCGA-AP-A0LT-01 COSM1003073 c.2063G>A p.R688H Substitution - Missense 19:6848048-6848048 + 1255_T COSM3960676 c.1737A>G p.K579K Substitution - coding silent 19:6833913-6833913 + 382 COSM1397443 c.540G>A p.S180S Substitution - coding silent 19:6822311-6822311 + HN_62741 COSM128456 c.390C>G p.P130P Substitution - coding silent 19:6821800-6821800 + ATL317 COSM5707266 c.305T>A p.V102E Substitution - Missense 19:6820802-6820802 + CSCC-40-T COSM4460900 c.1183C>T p.Q395* Substitution - Nonsense 19:6828818-6828818 + LP6007414-DNA_A02 COSM4409500 c.894C>T p.A298A Substitution - coding silent 19:6826678-6826678 + LUAD-U6SJ7 COSM400209 c.2523T>C p.Y841Y Substitution - coding silent 19:6857092-6857092 + SJHGG057_A COSM4971087 c.2382C>T p.C794C Substitution - coding silent 19:6853996-6853996 + ATL343 COSM5707297 c.1668G>C p.E556D Substitution - Missense 19:6833585-6833585 + S01861 COSM5671182 c.2087G>T p.R696L Substitution - Missense 19:6848072-6848072 + ATL121 COSM5707297 c.1668G>C p.E556D Substitution - Missense 19:6833585-6833585 + ATL300 COSM5707283 c.1211A>G p.K404R Substitution - Missense 19:6828846-6828846 + ATL142 COSM5707310 c.2465G>A p.R822Q Substitution - Missense 19:6854079-6854079 + ATL054 COSM5707277 c.530T>G p.L177R Substitution - Missense 19:6822301-6822301 + 19M COSM5579963 c.412G>A p.D138N Substitution - Missense 19:6821822-6821822 + TCGA-AX-A0J1-01 COSM1003063 c.375G>A p.G125G Substitution - coding silent 19:6821675-6821675 + Pat_15_A COSM5857047 c.1053G>A p.M351I Substitution - Missense 19:6828448-6828448 + I2L-P28-Tumor-Organoid COSM5365428 c.951C>T p.N317N Substitution - coding silent 19:6828099-6828099 + TCGA-BR-7851-01 COSM4082646 c.357G>A p.P119P Substitution - coding silent 19:6821657-6821657 + 2492711 COSM5607195 c.388C>T p.P130S Substitution - Missense 19:6821798-6821798 + TCGA-CM-6679-01 COSM300453 c.510C>T p.G170G Substitution - coding silent 19:6822281-6822281 + TCGA-A2-A0T5-01 COSM3836108 c.1241T>G p.V414G Substitution - Missense 19:6828876-6828876 + 1N64-VS-1T64 COSM4978048 c.705C>T p.I235I Substitution - coding silent 19:6825103-6825103 + ATL300 COSM5707284 c.1211A>G p.K404R Substitution - Missense 19:6828846-6828846 + ATL336 COSM5707307 c.2413G>A p.E805K Substitution - Missense 19:6854027-6854027 + YUSCA COSM5391088 c.648C>T p.I216I Substitution - coding silent 19:6822508-6822508 + T1154 COSM4740181 c.42C>T p.C14C Substitution - coding silent 19:6772849-6772849 + 8051719 COSM4138269 c.834C>T p.L278L Substitution - coding silent 19:6826618-6826618 + 2492720 COSM5722797 c.1827C>T p.P609P Substitution - coding silent 19:6836481-6836481 + RK222_C01 COSM4780250 c.1231A>C p.I411L Substitution - Missense 19:6828866-6828866 + PD13763a COSM5773507 c.1611-5C>T p.? Unknown 19:6833523-6833523 + PET100T COSM4963656 c.1449G>A p.E483E Substitution - coding silent 19:6832141-6832141 + TCGA-CG-4442-01 COSM2728199 c.1745G>A p.R582H Substitution - Missense 19:6833921-6833921 + TCGA-D3-A5GU-06 COSM3541061 c.234C>T p.F78F Substitution - coding silent 19:6820731-6820731 + TCGA-IH-A3EA-01 COSM3541095 c.1511C>T p.S504F Substitution - Missense 19:6833186-6833186 + TCGA-33-4566-01 COSM713974 c.2365G>A p.A789T Substitution - Missense 19:6853979-6853979 + PT48 COSM5933959 c.2102A>T p.D701V Substitution - Missense 19:6848087-6848087 + TCGA-AZ-4615-01 COSM3693195 c.504G>A p.A168A Substitution - coding silent 19:6822275-6822275 + ATL024 COSM5707261 c.77A>G p.D26G Substitution - Missense 19:6772884-6772884 + RK308_C01 COSM3743195 c.2116G>A p.A706T Substitution - Missense 19:6848101-6848101 + TCGA-EI-6882-01 COSM3423344 c.1231A>T p.I411F Substitution - Missense 19:6828866-6828866 + ATL342 COSM4771527 c.1668G>T p.E556D Substitution - Missense 19:6833585-6833585 + S01020 COSM5665057 c.1398G>T p.K466N Substitution - Missense 19:6829918-6829918 + GB18 COSM1744718 c.2097G>A p.V699V Substitution - coding silent 19:6848082-6848082 + ATL308 COSM5707283 c.1211A>G p.K404R Substitution - Missense 19:6828846-6828846 + TCGA-24-1545-01 COSM116258 c.1444T>C p.Y482H Substitution - Missense 19:6832136-6832136 + CHEWS031 COSM4581564 c.2211G>C p.G737G Substitution - coding silent 19:6850751-6850751 + ATL125 COSM5707292 c.1501A>T p.M501L Substitution - Missense 19:6832193-6832193 + LIM2405 COSM4642395 c.238T>C p.S80P Substitution - Missense 19:6820735-6820735 + TCGA-22-5472-01 COSM713976 c.1306C>A p.R436S Substitution - Missense 19:6829826-6829826 + 49M COSM5593915 c.2405C>T p.S802L Substitution - Missense 19:6854019-6854019 + TCGA-ER-A2NF-01 COSM3541071 c.373G>A p.G125R Substitution - Missense 19:6821673-6821673 + Au4 COSM3541078 c.750C>T p.F250F Substitution - coding silent 19:6825329-6825329 + TCGA-BR-A4CR-01 COSM4082650 c.1016T>A p.L339H Substitution - Missense 19:6828164-6828164 + 1946219 COSM95504 c.1551C>A p.D517E Substitution - Missense 19:6833226-6833226 + TCGA-KK-A59X-01 COSM4877729 c.513C>G p.D171E Substitution - Missense 19:6822284-6822284 + TCGA-BR-6452-01 COSM4082659 c.2301G>A p.E767E Substitution - coding silent 19:6853048-6853048 + LUAD-CHTN-3090416 COSM357552 c.2455G>A p.G819S Substitution - Missense 19:6854069-6854069 + 2462859 COSM1158111 c.172C>T p.R58C Substitution - Missense 19:6772979-6772979 + TCGA-12-3653-01 COSM3404764 c.1997T>C p.L666P Substitution - Missense 19:6843151-6843151 + HCC162T COSM3707512 c.2332+7G>A p.? Unknown 19:6853086-6853086 + TCGA-EE-A20C-06 COSM3541061 c.234C>T p.F78F Substitution - coding silent 19:6820731-6820731 + PCSI_0142_Pa_P_526 COSM4808314 c.1943G>T p.G648V Substitution - Missense 19:6837013-6837013 + PCSI_0076_Pa_P COSM3378877 c.1141C>T p.R381* Substitution - Nonsense 19:6828670-6828670 + ATL168 COSM5707282 c.1195C>T p.H399Y Substitution - Missense 19:6828830-6828830 + TCGA-BP-4759-01 COSM26589 c.1041G>A p.T347T Substitution - coding silent 19:6828436-6828436 + PS-352-1D COSM4423978 c.546_547insG p.V183fs*11 Insertion - Frameshift 19:6822317-6822318 + ATL030 COSM4771528 c.1668G>T p.E556D Substitution - Missense 19:6833585-6833585 + T578 COSM294943 c.188G>A p.R63H Substitution - Missense 19:6772995-6772995 + TCGA-EE-A2MJ-06 COSM3541115 c.2468G>A p.G823E Substitution - Missense 19:6854082-6854082 + TCGA-AP-A059-01 COSM1003070 c.1176C>T p.N392N Substitution - coding silent 19:6828705-6828705 + 4-74-T1 COSM4745750 c.269G>A p.R90Q Substitution - Missense 19:6820766-6820766 + cSCCP7 COSM140189 c.790G>A p.A264T Substitution - Missense 19:6825369-6825369 + TCGA-DU-7309-01 COSM179579 c.1040C>T p.T347M Substitution - Missense 19:6828435-6828435 + TCGA-06-2563 COSM2152911 c.71C>A p.T24N Substitution - Missense 19:6772878-6772878 + BD135T COSM5516111 c.1107C>T p.C369C Substitution - coding silent 19:6828636-6828636 + BD121T COSM3541074 c.448G>A p.D150N Substitution - Missense 19:6821858-6821858 + TCGA-D3-A3ML-06 COSM3541081 c.1014C>T p.L338L Substitution - coding silent 19:6828162-6828162 + 2497781 COSM5751030 c.1634G>T p.R545L Substitution - Missense 19:6833551-6833551 + TCGA-F5-6814-01 COSM3423341 c.418G>T p.D140Y Substitution - Missense 19:6821828-6821828 + pfg129T COSM4288681 c.1219G>A p.G407R Substitution - Missense 19:6828854-6828854 + TCGA-EE-A3AC-06 COSM3541079 c.798C>T p.L266L Substitution - coding silent 19:6825377-6825377 + LC_S11 COSM1189796 c.1750G>T p.A584S Substitution - Missense 19:6833926-6833926 + YUAKER COSM1711672 c.2000C>T p.S667F Substitution - Missense 19:6843154-6843154 + Pat_76_B COSM5857049 c.2412_2413GG>AA p.E805K Substitution - Missense 19:6854026-6854027 + B66-Tumor COSM3933230 c.2334G>T p.V778V Substitution - coding silent 19:6853948-6853948 + AOCS-119-3-9 COSM3404760 c.1113C>T p.N371N Substitution - coding silent 19:6828642-6828642 + TCGA-G4-6310-01 COSM1318234 c.1542C>T p.N514N Substitution - coding silent 19:6833217-6833217 + TCGA-ER-A19F-06 COSM3541063 c.258C>T p.F86F Substitution - coding silent 19:6820755-6820755 + TCGA-EE-A2A6-06 COSM3541099 c.1702G>A p.G568R Substitution - Missense 19:6833619-6833619 + TCGA-56-1622-01 COSM713973 c.2446G>C p.G816R Substitution - Missense 19:6854060-6854060 + PCSI_0118_Pa_P COSM3378878 c.2207G>A p.R736Q Substitution - Missense 19:6850747-6850747 + TCGA-C5-A2LX-01 COSM4827537 c.366G>C p.Q122H Substitution - Missense 19:6821666-6821666 + PT35 COSM5914218 c.1642C>T p.R548W Substitution - Missense 19:6833559-6833559 + HCT15 COSM1680558 c.964C>A p.L322M Substitution - Missense 19:6828112-6828112 + TCGA-DA-A3F8-06 COSM3541058 c.157C>T p.H53Y Substitution - Missense 19:6772964-6772964 + 103979 COSM96280 c.2199G>A p.K733K Substitution - coding silent 19:6850739-6850739 + TCGA-EW-A1J3-01 COSM1481652 c.2143G>A p.V715I Substitution - Missense 19:6850683-6850683 + OSCC-GB_00960111 COSM4885510 c.461A>C p.E154A Substitution - Missense 19:6822232-6822232 + TCGA-IR-A3LA-01 COSM4845284 c.1059G>A p.K353K Substitution - coding silent 19:6828454-6828454 + PCSI_0268_Pa_P_526 COSM4961694 c.1224A>G p.E408E Substitution - coding silent 19:6828859-6828859 + TCGA-AY-6386-01 COSM5136822 c.262C>T p.L88F Substitution - Missense 19:6820759-6820759 + MO_1094 COSM5552017 c.883G>A p.D295N Substitution - Missense 19:6826667-6826667 + ATL063 COSM5707293 c.1502T>G p.M501R Substitution - Missense 19:6832194-6832194 + ATL168 COSM5707270 c.521A>G p.Y174C Substitution - Missense 19:6822292-6822292 + ATL419 COSM5707284 c.1211A>G p.K404R Substitution - Missense 19:6828846-6828846 + B104-0 COSM1751240 c.1771G>A p.E591K Substitution - Missense 19:6833947-6833947 + ATL141 COSM5707310 c.2465G>A p.R822Q Substitution - Missense 19:6854079-6854079 + pfg129T COSM2728185 c.1219G>A p.G407R Substitution - Missense 19:6828854-6828854 + YUSIPU COSM4288662 c.270G>A p.R90R Substitution - coding silent 19:6820767-6820767 + ATL121 COSM5707298 c.1668G>C p.E556D Substitution - Missense 19:6833585-6833585 + TCGA-60-2698-01 COSM713979 c.700G>C p.E234Q Substitution - Missense 19:6825098-6825098 + 2492725 COSM5725127 c.1352G>A p.S451N Substitution - Missense 19:6829872-6829872 + TCGA-EE-A2GT-06 COSM3541076 c.673C>G p.Q225E Substitution - Missense 19:6825071-6825071 + ATL068 COSM5707305 c.2393G>C p.R798P Substitution - Missense 19:6854007-6854007 + PCSI_0142_Pa_P_526 COSM4808313 c.1943G>T p.G648V Substitution - Missense 19:6837013-6837013 + TCGA-IH-A3EA-01 COSM3541096 c.1511C>T p.S504F Substitution - Missense 19:6833186-6833186 + 522_T COSM3960673 c.519C>A p.I173I Substitution - coding silent 19:6822290-6822290 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.116237 19p13.2 164875

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E769D c.2307A>C 19 6853065 CM A C Synonymous p.R124R c.370A>C 19 6821681 CM A G IntronicSNV . c.204+8797A>G 19 6781819 CLL A G Missense p.D394G c.1181A>G 19 6828827 OV A G Missense p.T739A c.2215A>G 19 6850766 UCEC - ATGC Nonsense p.Y423*fs*1 c.1268_1269insATGC 19 6829799 STAD A T Missense p.D456V c.1367A>T 19 6829898 HNSC C A Missense p.H53N c.157C>A 19 6772975 PRAD C A Missense p.L803I c.2407C>A 19 6854032 STAD C A Missense p.R436S c.1306C>A 19 6829837 LUSC C A Missense p.T24N c.71C>A 19 6772889 GBM C A Synonymous p.A121A c.363C>A 19 6821674 STAD C A Synonymous p.I120I c.360C>A 19 6821671 SCLC C G Missense p.D171E c.513C>G 19 6822295 PRAD C G Missense p.Q225E c.673C>G 19 6825082 CM C G Missense p.Q542E c.1624C>G 19 6833552 HNSC C G Missense p.Q542E c.1624C>G 19 6833552 LUSC C G Synonymous p.P130P c.390C>G 19 6821811 HNSC C G Synonymous p.S418S c.1254C>G 19 6828900 OV C G Synonymous p.V373V c.1119C>G 19 6828659 HNSC C T Missense p.H53Y c.157C>T 19 6772975 CM C T Missense p.P508L c.1523C>T 19 6833209 LGG C T Missense p.P562S c.1684C>T 19 6833612 STAD C T Missense p.R357W c.1069C>T 19 6828475 RCCC C T Missense p.R455W c.1363C>T 19 6829894 COREAD C T Missense p.R618W c.1852C>T 19 6836517 HNSC C T Missense p.R696W c.2086C>T 19 6848082 COREAD C T Missense p.R736W c.2206C>T 19 6850757 ESCA C T Missense p.S396F c.1187C>T 19 6828833 CM C T Missense p.S504F c.1511C>T 19 6833197 CM C T Missense p.S802L c.2405C>T 19 6854030 UCEC C T Nonsense p.R462* c.1384C>T 19 6829915 COREAD C T Nonsense p.R566* c.1696C>T 19 6833624 STAD C T Nonsense p.R798* c.2392C>T 19 6854017 GBM C T Synonymous p.C369C c.1107C>T 19 6828647 UCEC C T Synonymous p.D797D c.2391C>T 19 6854016 CM C T Synonymous p.F386F c.1158C>T 19 6828698 CM C T Synonymous p.F521F c.1563C>T 19 6833249 CM C T Synonymous p.F78F c.234C>T 19 6820742 CM C T Synonymous p.F86F c.258C>T 19 6820766 CM C T Synonymous p.F94F c.282C>T 19 6820790 CM C T Synonymous p.G262G c.786C>T 19 6825376 UCEC C T Synonymous p.I474I c.1422C>T 19 6832125 CM C T Synonymous p.L266L c.798C>T 19 6825388 CM C T Synonymous p.L338L c.1014C>T 19 6828173 CM C T Synonymous p.L472L c.1416C>T 19 6832119 CM C T Synonymous p.N371N c.1113C>T 19 6828653 GBM C T Synonymous p.N377N c.1131C>T 19 6828671 GBM C T Synonymous p.P764P c.2292C>T 19 6853050 RCCC GAA - InFrameDeletion p.K494delK c.1480_1482delAAG 19 6832176 ESCA G A Missense p.D101N c.301G>A 19 6820809 CM G A Missense p.D150N c.448G>A 19 6821869 CM G A Missense p.D406N c.1216G>A 19 6828862 BRCA G A Missense p.D840N c.2518G>A 19 6857098 CM G A Missense p.E134K c.400G>A 19 6821821 CM G A Missense p.E372K c.1114G>A 19 6828654 CM G A Missense p.E378K c.1132G>A 19 6828672 GBM G A Missense p.E59K c.175G>A 19 6772993 LUAD G A Missense p.E839K c.2515G>A 19 6857095 CM G A Missense p.G125R c.373G>A 19 6821684 CM G A Missense p.G568R c.1702G>A 19 6833630 CM G A Missense p.G691R c.2071G>A 19 6848067 CM G A Missense p.G823E c.2468G>A 19 6854093 CM G A Missense p.M597I c.1791G>A 19 6836456 CM G A Missense p.R226Q c.677G>A 19 6825086 STAD G A Missense p.R566Q c.1697G>A 19 6833625 BRCA G A Missense p.R688H c.2063G>A 19 6848059 UCEC G A Missense p.R736Q c.2207G>A 19 6850758 ESCA G A Missense p.R796Q c.2387G>A 19 6854012 CM G A Missense p.R798Q c.2393G>A 19 6854018 CM G A Missense p.V715I c.2143G>A 19 6850694 BRCA G A Nonsense p.W636* c.1907G>A 19 6836572 BLCA G A SpliceDonorSNV . c.1731+1G>A 19 6833745 STAD G A Synonymous p.G823G c.2469G>A 19 6854094 CM G A Synonymous p.K770K c.2310G>A 19 6853068 CM G A Synonymous p.R416R c.1248G>A 19 6828894 CM G A Synonymous p.R696R c.2088G>A 19 6848084 STAD G A Synonymous p.T347T c.1041G>A 19 6828447 RCCC G C Missense p.E391D c.1173G>C 19 6828713 LUSC G C Missense p.G816R c.2446G>C 19 6854071 LUSC G C Missense p.L221F c.663G>C 19 6825072 LUAD G C Missense p.Q122H c.366G>C 19 6821677 STAD GG AA SpliceDonorBlockSubstitution . c.558_558+1delinsAA 19 6822340 CM G T Missense p.E234D c.702G>T 19 6825111 LUSC G T Missense p.G737W c.2209G>T 19 6850760 SCLC G T Missense p.R332L c.995G>T 19 6828154 COREAD G T Missense p.R775S c.2325G>T 19 6853083 CM G T Missense p.R828L c.2483G>T 19 6854108 CM G T Missense p.S291I c.872G>T 19 6826667 NB G T Synonymous p.R828R c.2484G>T 19 6854109 HNSC G T Synonymous p.S413S c.1239G>T 19 6828885 ESCA T C Missense p.L666P c.1997T>C 19 6843162 GBM T C Missense p.L801P c.2402T>C 19 6854027 LUAD T C Missense p.S413P c.1237T>C 19 6828883 RCCC T C Missense p.Y482H c.1444T>C 19 6832147 OV T C Synonymous p.L339L c.1017T>C 19 6828176 CM T C Synonymous p.L47L c.141T>C 19 6772959 UCEC