Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 4 170017810 170017810 + Nonsense_Mutation SNP G G A TCGA-GV-A40E-01A-12D-A23M-08 TCGA-GV-A40E-10A-01D-A23K-08 g.chr4:170017810G>A c.2527C>T c.(2527-2529)Cag>Tag p.Q843* BLCA 4 170028027 170028027 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 g.chr4:170028027C>G c.2469G>C c.(2467-2469)ttG>ttC p.L823F BLCA 4 170028077 170028077 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 g.chr4:170028077G>A c.2419C>T c.(2419-2421)Ccc>Tcc p.P807S BLCA 4 170028181 170028181 + Missense_Mutation SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 g.chr4:170028181G>T c.2315C>A c.(2314-2316)tCc>tAc p.S772Y BLCA 4 170028280 170028280 + Missense_Mutation SNP G G A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr4:170028280G>A c.2216C>T c.(2215-2217)tCg>tTg p.S739L BLCA 4 170037711 170037711 + Silent SNP G G A TCGA-KQ-A41P-01A-12D-A339-08 TCGA-KQ-A41P-10F-01D-A339-08 g.chr4:170037711G>A c.1848C>T c.(1846-1848)ctC>ctT p.L616L BLCA 4 170038745 170038745 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 g.chr4:170038745G>C c.1706C>G c.(1705-1707)cCt>cGt p.P569R BLCA 4 170038769 170038769 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 g.chr4:170038769G>A c.1682C>T c.(1681-1683)tCa>tTa p.S561L BLCA 4 170038801 170038801 + Silent SNP C C T TCGA-XF-AAML-01A-11D-A42E-08 TCGA-XF-AAML-10A-01D-A42H-08 g.chr4:170038801C>T c.1650G>A c.(1648-1650)ggG>ggA p.G550G BLCA 4 170038903 170038903 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 g.chr4:170038903G>A c.1548C>T c.(1546-1548)gtC>gtT p.V516V BLCA 4 170042058 170042058 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr4:170042058G>A c.1429C>T c.(1429-1431)Cgc>Tgc p.R477C BLCA 4 170077566 170077566 + Missense_Mutation SNP G G C TCGA-FD-A43P-01A-31D-A23U-08 TCGA-FD-A43P-10A-01D-A23U-08 g.chr4:170077566G>C c.658C>G c.(658-660)Cca>Gca p.P220A BLCA 4 170190227 170190227 + Missense_Mutation SNP T T G TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr4:170190227T>G c.137A>C c.(136-138)gAa>gCa p.E46A BLCA 4 170190326 170190326 + Missense_Mutation SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr4:170190326G>C c.38C>G c.(37-39)cCg>cGg p.P13R BRCA 4 170017808 170017808 + Silent SNP C C T TCGA-AC-A62Y-01A-11D-A29N-09 TCGA-AC-A62Y-10A-01D-A29N-09 g.chr4:170017808C>T c.2529G>A c.(2527-2529)caG>caA p.Q843Q BRCA 4 170037434 170037434 + Missense_Mutation SNP C C G TCGA-AC-A5EH-01A-11D-A28B-09 TCGA-AC-A5EH-10A-01D-A28E-09 g.chr4:170037434C>G c.2125G>C c.(2125-2127)Gac>Cac p.D709H BRCA 4 170037744 170037744 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr4:170037744C>T c.1815G>A c.(1813-1815)gtG>gtA p.V605V BRCA 4 170038689 170038689 + Missense_Mutation SNP T T C TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr4:170038689T>C c.1762A>G c.(1762-1764)Aat>Gat p.N588D BRCA 4 170057685 170057685 + Silent SNP G G A TCGA-BH-A1F8-01A-11D-A13L-09 TCGA-BH-A1F8-11B-21D-A188-09 g.chr4:170057685G>A c.852C>T c.(850-852)gcC>gcT p.A284A CESC 4 170037479 170037479 + Missense_Mutation SNP C C T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 g.chr4:170037479C>T c.2080G>A c.(2080-2082)Gac>Aac p.D694N CESC 4 170038882 170038882 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 g.chr4:170038882C>G c.1569G>C c.(1567-1569)caG>caC p.Q523H CESC 4 170077646 170077646 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr4:170077646G>A c.578C>T c.(577-579)cCg>cTg p.P193L COAD 4 170017730 170017730 + Silent SNP G G T TCGA-AA-3517-01A-01W-0831-10 TCGA-AA-3517-10A-01W-0831-10 g.chr4:170017730G>T c.2607C>A c.(2605-2607)ggC>ggA p.G869G COAD 4 170028304 170028304 + Missense_Mutation SNP T T G TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr4:170028304T>G c.2192A>C c.(2191-2193)aAg>aCg p.K731T COAD 4 170037692 170037692 + Silent SNP G G A TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr4:170037692G>A c.1867C>T c.(1867-1869)Ctg>Ttg p.L623L COAD 4 170057631 170057631 + Silent SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr4:170057631C>T c.906G>A c.(904-906)cgG>cgA p.R302R COAD 4 170057676 170057676 + Silent SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr4:170057676G>A c.861C>T c.(859-861)agC>agT p.S287S COAD 4 170057765 170057765 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:170057765A>G c.772T>C c.(772-774)Tcg>Ccg p.S258P COAD 4 170076639 170076639 + Missense_Mutation SNP A A G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr4:170076639A>G c.757T>C c.(757-759)Tat>Cat p.Y253H COAD 4 170077733 170077733 + Missense_Mutation SNP C C T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr4:170077733C>T c.491G>A c.(490-492)cGa>cAa p.R164Q COAD 4 170190267 170190267 + Frame_Shift_Del DEL A A - TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr4:170190267delA c.97delT c.(97-99)tgcfs p.C33fs COADREAD 4 170017730 170017730 + Silent SNP G G T TCGA-AA-3517-01A-01W-0831-10 TCGA-AA-3517-10A-01W-0831-10 g.chr4:170017730G>T c.2607C>A c.(2605-2607)ggC>ggA p.G869G COADREAD 4 170028304 170028304 + Missense_Mutation SNP T T G TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr4:170028304T>G c.2192A>C c.(2191-2193)aAg>aCg p.K731T COADREAD 4 170037692 170037692 + Silent SNP G G A TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr4:170037692G>A c.1867C>T c.(1867-1869)Ctg>Ttg p.L623L COADREAD 4 170038875 170038875 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:170038875G>A c.1576C>T c.(1576-1578)Cgg>Tgg p.R526W COADREAD 4 170057631 170057631 + Silent SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr4:170057631C>T c.906G>A c.(904-906)cgG>cgA p.R302R COADREAD 4 170057676 170057676 + Silent SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr4:170057676G>A c.861C>T c.(859-861)agC>agT p.S287S COADREAD 4 170057765 170057765 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:170057765A>G c.772T>C c.(772-774)Tcg>Ccg p.S258P COADREAD 4 170076639 170076639 + Missense_Mutation SNP A A G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr4:170076639A>G c.757T>C c.(757-759)Tat>Cat p.Y253H COADREAD 4 170077733 170077733 + Missense_Mutation SNP C C T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr4:170077733C>T c.491G>A c.(490-492)cGa>cAa p.R164Q COADREAD 4 170190267 170190267 + Frame_Shift_Del DEL A A - TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr4:170190267delA c.97delT c.(97-99)tgcfs p.C33fs DLBC 4 170043268 170043268 + Silent SNP C C T TCGA-GS-A9TQ-01A-11D-A382-10 TCGA-GS-A9TQ-10A-01D-A385-10 g.chr4:170043268C>T c.1329G>A c.(1327-1329)ccG>ccA p.P443P ESCA 4 170057668 170057668 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 g.chr4:170057668G>T c.869C>A c.(868-870)cCa>cAa p.P290Q ESCA 4 170077739 170077741 + In_Frame_Del DEL ATG ATG - TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 g.chr4:170077739_170077741delATG c.483_485delCAT c.(481-486)atcatt>att p.161_162II>I ESCA 4 170077752 170077752 + Missense_Mutation SNP C C A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 g.chr4:170077752C>A c.472G>T c.(472-474)Ggt>Tgt p.G158C GBM 4 170043337 170043337 + Silent SNP A A G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 g.chr4:170043337A>G c.1260T>C c.(1258-1260)gcT>gcC p.A420A GBM 4 170190261 170190261 + Missense_Mutation SNP G G C TCGA-12-5299-01A-02D-1486-08 TCGA-12-5299-10A-01D-1486-08 g.chr4:170190261G>C c.103C>G c.(103-105)Cga>Gga p.R35G GBMLGG 4 170017683 170017690 + Frame_Shift_Del DEL ACAAAGCT ACAAAGCT - TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 g.chr4:170017683_170017690delACAAAGCT c.2647_2654delAGCTTTGT c.(2647-2655)agctttgtgfs p.SFV883fs GBMLGG 4 170028083 170028083 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:170028083C>T c.2413G>A c.(2413-2415)Gca>Aca p.A805T GBMLGG 4 170038810 170038810 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:170038810G>A c.1641C>T c.(1639-1641)ggC>ggT p.G547G GBMLGG 4 170042112 170042112 + Missense_Mutation SNP G G A TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 g.chr4:170042112G>A c.1375C>T c.(1375-1377)Cgg>Tgg p.R459W GBMLGG 4 170043326 170043326 + Missense_Mutation SNP G G A TCGA-HT-7689-01A-11D-2253-08 TCGA-HT-7689-10A-01D-2253-08 g.chr4:170043326G>A c.1271C>T c.(1270-1272)gCt>gTt p.A424V GBMLGG 4 170043337 170043337 + Silent SNP A A G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 g.chr4:170043337A>G c.1260T>C c.(1258-1260)gcT>gcC p.A420A GBMLGG 4 170190261 170190261 + Missense_Mutation SNP G G C TCGA-12-5299-01A-02D-1486-08 TCGA-12-5299-10A-01D-1486-08 g.chr4:170190261G>C c.103C>G c.(103-105)Cga>Gga p.R35G HNSC 4 170017675 170017675 + Missense_Mutation SNP T T C TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 g.chr4:170017675T>C c.2662A>G c.(2662-2664)Ata>Gta p.I888V HNSC 4 170028206 170028206 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 g.chr4:170028206C>T c.2290G>A c.(2290-2292)Gga>Aga p.G764R HNSC 4 170042098 170042098 + Silent SNP T T C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 g.chr4:170042098T>C c.1389A>G c.(1387-1389)gaA>gaG p.E463E HNSC 4 170042112 170042112 + Missense_Mutation SNP G G C TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr4:170042112G>C c.1375C>G c.(1375-1377)Cgg>Ggg p.R459G HNSC 4 170057513 170057513 + Missense_Mutation SNP G G A TCGA-KU-A66T-01A-11D-A30E-08 TCGA-KU-A66T-10A-01D-A30H-08 g.chr4:170057513G>A c.1024C>T c.(1024-1026)Cgg>Tgg p.R342W HNSC 4 170077719 170077719 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 g.chr4:170077719C>G c.505G>C c.(505-507)Gaa>Caa p.E169Q HNSC 4 170077830 170077830 + Splice_Site SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 g.chr4:170077830C>G c.394G>C c.(394-396)Ggt>Cgt p.G132R KIPAN 4 170028338 170028338 + Silent SNP A A G TCGA-J7-6720-01A-11D-2136-08 TCGA-J7-6720-10A-01D-2136-08 g.chr4:170028338A>G c.2158T>C c.(2158-2160)Ttg>Ctg p.L720L KIPAN 4 170037559 170037559 + Missense_Mutation SNP G G T TCGA-UZ-A9PL-01A-11D-A382-10 TCGA-UZ-A9PL-10A-01D-A385-10 g.chr4:170037559G>T c.2000C>A c.(1999-2001)cCa>cAa p.P667Q KIPAN 4 170190302 170190302 + Missense_Mutation SNP G G A TCGA-CZ-5456-01A-01D-1501-10 TCGA-CZ-5456-11A-01D-1501-10 g.chr4:170190302G>A c.62C>T c.(61-63)gCt>gTt p.A21V KIRC 4 170190302 170190302 + Missense_Mutation SNP G G A TCGA-CZ-5456-01A-01D-1501-10 TCGA-CZ-5456-11A-01D-1501-10 g.chr4:170190302G>A c.62C>T c.(61-63)gCt>gTt p.A21V KIRP 4 170028338 170028338 + Silent SNP A A G TCGA-J7-6720-01A-11D-2136-08 TCGA-J7-6720-10A-01D-2136-08 g.chr4:170028338A>G c.2158T>C c.(2158-2160)Ttg>Ctg p.L720L KIRP 4 170037559 170037559 + Missense_Mutation SNP G G T TCGA-UZ-A9PL-01A-11D-A382-10 TCGA-UZ-A9PL-10A-01D-A385-10 g.chr4:170037559G>T c.2000C>A c.(1999-2001)cCa>cAa p.P667Q LGG 4 170017683 170017690 + Frame_Shift_Del DEL ACAAAGCT ACAAAGCT - TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 g.chr4:170017683_170017690delACAAAGCT c.2647_2654delAGCTTTGT c.(2647-2655)agctttgtgfs p.SFV883fs LGG 4 170028083 170028083 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:170028083C>T c.2413G>A c.(2413-2415)Gca>Aca p.A805T LGG 4 170038810 170038810 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:170038810G>A c.1641C>T c.(1639-1641)ggC>ggT p.G547G LGG 4 170042112 170042112 + Missense_Mutation SNP G G A TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 g.chr4:170042112G>A c.1375C>T c.(1375-1377)Cgg>Tgg p.R459W LGG 4 170043326 170043326 + Missense_Mutation SNP G G A TCGA-HT-7689-01A-11D-2253-08 TCGA-HT-7689-10A-01D-2253-08 g.chr4:170043326G>A c.1271C>T c.(1270-1272)gCt>gTt p.A424V LIHC 4 170043263 170043263 + Missense_Mutation SNP G G A TCGA-DD-AADQ-01A-11D-A40R-10 TCGA-DD-AADQ-10A-01D-A40U-10 g.chr4:170043263G>A c.1334C>T c.(1333-1335)aCt>aTt p.T445I LIHC 4 170077556 170077556 + Splice_Site SNP T T G TCGA-G3-A5SK-01A-11D-A27I-10 TCGA-G3-A5SK-10A-01D-A27I-10 g.chr4:170077556T>G c.668A>C c.(667-669)aAg>aCg p.K223T LUAD 4 170017716 170017716 + Missense_Mutation SNP T T A TCGA-55-8616-01A-11D-2393-08 TCGA-55-8616-10A-01D-2393-08 g.chr4:170017716T>A c.2621A>T c.(2620-2622)aAt>aTt p.N874I LUAD 4 170017740 170017740 + Missense_Mutation SNP C C G TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 g.chr4:170017740C>G c.2597G>C c.(2596-2598)tGg>tCg p.W866S LUAD 4 170017808 170017808 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 g.chr4:170017808C>G c.2529G>C c.(2527-2529)caG>caC p.Q843H LUAD 4 170037448 170037448 + Missense_Mutation SNP G G A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr4:170037448G>A c.2111C>T c.(2110-2112)tCa>tTa p.S704L LUAD 4 170037777 170037777 + Silent SNP T T A TCGA-91-A4BC-01A-11D-A24D-08 TCGA-91-A4BC-10A-01D-A24F-08 g.chr4:170037777T>A c.1782A>T c.(1780-1782)gcA>gcT p.A594A LUAD 4 170043254 170043255 + Frame_Shift_Del DEL CT CT - TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 g.chr4:170043254_170043255delCT c.1342_1343delAG c.(1342-1344)agtfs p.S448fs LUAD 4 170077704 170077704 + Missense_Mutation SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 g.chr4:170077704C>T c.520G>A c.(520-522)Ggg>Agg p.G174R LUAD 4 170190190 170190190 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr4:170190190C>G c.174G>C c.(172-174)tcG>tcC p.S58S LUSC 4 170038713 170038713 + Missense_Mutation SNP G G T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 g.chr4:170038713G>T c.1738C>A c.(1738-1740)Caa>Aaa p.Q580K LUSC 4 170057544 170057544 + Silent SNP G G A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 g.chr4:170057544G>A c.993C>T c.(991-993)ctC>ctT p.L331L PAAD 4 170037775 170037775 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:170037775G>A c.1784C>T c.(1783-1785)gCg>gTg p.A595V PAAD 4 170043380 170043380 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:170043380G>A c.1217C>T c.(1216-1218)gCt>gTt p.A406V PAAD 4 170051308 170051308 + Splice_Site SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:170051308C>T c.e6-1 PRAD 4 170037774 170037774 + Silent SNP C C T TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 g.chr4:170037774C>T c.1785G>A c.(1783-1785)gcG>gcA p.A595A PRAD 4 170043369 170043369 + Missense_Mutation SNP G G A TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 g.chr4:170043369G>A c.1228C>T c.(1228-1230)Ctt>Ttt p.L410F READ 4 170038875 170038875 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:170038875G>A c.1576C>T c.(1576-1578)Cgg>Tgg p.R526W SKCM 4 170017731 170017731 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr4:170017731C>T c.2606G>A c.(2605-2607)gGc>gAc p.G869D SKCM 4 170028035 170028035 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 g.chr4:170028035G>A c.2461C>T c.(2461-2463)Cct>Tct p.P821S SKCM 4 170028123 170028123 + Silent SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr4:170028123G>A c.2373C>T c.(2371-2373)gcC>gcT p.A791A SKCM 4 170028181 170028181 + Missense_Mutation SNP G G A TCGA-EE-A29P-06A-11D-A197-08 TCGA-EE-A29P-10A-01D-A199-08 g.chr4:170028181G>A c.2315C>T c.(2314-2316)tCc>tTc p.S772F SKCM 4 170028273 170028273 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:170028273G>A c.2223C>T c.(2221-2223)acC>acT p.T741T SKCM 4 170028308 170028308 + Missense_Mutation SNP G G A TCGA-ER-A19E-06A-11D-A197-08 TCGA-ER-A19E-10A-01D-A199-08 g.chr4:170028308G>A c.2188C>T c.(2188-2190)Cgg>Tgg p.R730W SKCM 4 170028325 170028325 + Missense_Mutation SNP G G A TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr4:170028325G>A c.2171C>T c.(2170-2172)tCt>tTt p.S724F SKCM 4 170051274 170051274 + Missense_Mutation SNP G G A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr4:170051274G>A c.1102C>T c.(1102-1104)Ccg>Tcg p.P368S SKCM 4 170077708 170077708 + Silent SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr4:170077708G>A c.516C>T c.(514-516)taC>taT p.Y172Y SKCM 4 170077757 170077757 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr4:170077757C>T c.467G>A c.(466-468)aGc>aAc p.S156N

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 4 170190084 170190084 single base substitution T C downstream_gene_variant ALL-US 4 170190084 170190084 single base substitution T C exon_variant ALL-US 4 170190084 170190084 single base substitution T C missense_variant T94A 280A>G BLCA-CN 4 170017705 170017705 single base substitution C A missense_variant G878C 2632G>T BLCA-CN 4 170043272 170043272 single base substitution C T exon_variant BLCA-CN 4 170043272 170043272 single base substitution C T missense_variant R442Q 1325G>A BLCA-CN 4 170190286 170190286 single base substitution C G missense_variant L26F 78G>C BLCA-CN 4 170190286 170190286 single base substitution C G upstream_gene_variant BLCA-US 4 170017810 170017810 single base substitution G A stop_gained Q843* 2527C>T BLCA-US 4 170028027 170028027 single base substitution C G missense_variant L823F 2469G>C BLCA-US 4 170028077 170028077 single base substitution G A missense_variant P807S 2419C>T BLCA-US 4 170028181 170028181 single base substitution G T missense_variant S772Y 2315C>A BLCA-US 4 170038745 170038745 single base substitution G C 3_prime_UTR_variant BLCA-US 4 170038745 170038745 single base substitution G C exon_variant BLCA-US 4 170038745 170038745 single base substitution G C missense_variant P569R 1706C>G BLCA-US 4 170038769 170038769 single base substitution G A 3_prime_UTR_variant BLCA-US 4 170038769 170038769 single base substitution G A exon_variant BLCA-US 4 170038769 170038769 single base substitution G A missense_variant S561L 1682C>T BLCA-US 4 170038903 170038903 single base substitution G A 3_prime_UTR_variant BLCA-US 4 170038903 170038903 single base substitution G A exon_variant BLCA-US 4 170038903 170038903 single base substitution G A synonymous_variant V516V 1548C>T BOCA-FR 4 170155039 170155039 single base substitution C T intron_variant BRCA-EU 4 170011274 170011274 deletion of <=200bp A - downstream_gene_variant BRCA-EU 4 170011371 170011371 single base substitution C G downstream_gene_variant BRCA-EU 4 170011522 170011522 single base substitution C T downstream_gene_variant BRCA-EU 4 170011869 170011869 single base substitution C T downstream_gene_variant BRCA-EU 4 170013248 170013248 single base substitution C A downstream_gene_variant BRCA-EU 4 170013488 170013488 deletion of <=200bp T - downstream_gene_variant BRCA-EU 4 170013510 170013510 deletion of <=200bp T - downstream_gene_variant BRCA-EU 4 170014048 170014048 single base substitution G C downstream_gene_variant BRCA-EU 4 170014258 170014258 single base substitution C A downstream_gene_variant BRCA-EU 4 170014526 170014526 single base substitution T C downstream_gene_variant BRCA-EU 4 170014619 170014619 single base substitution G T downstream_gene_variant BRCA-EU 4 170016989 170016989 single base substitution C A 3_prime_UTR_variant BRCA-EU 4 170016989 170016989 single base substitution C T 3_prime_UTR_variant BRCA-EU 4 170017565 170017565 single base substitution C T 3_prime_UTR_variant BRCA-EU 4 170018180 170018180 single base substitution C G intron_variant BRCA-EU 4 170018865 170018865 single base substitution C T intron_variant BRCA-EU 4 170020469 170020469 single base substitution G T intron_variant BRCA-EU 4 170020549 170020549 single base substitution C A intron_variant BRCA-EU 4 170020846 170020846 single base substitution T G intron_variant BRCA-EU 4 170022298 170022298 single base substitution G T intron_variant BRCA-EU 4 170022667 170022667 single base substitution C G intron_variant BRCA-EU 4 170023548 170023548 single base substitution T G intron_variant BRCA-EU 4 170024030 170024030 single base substitution C G intron_variant BRCA-EU 4 170025516 170025516 single base substitution G A intron_variant BRCA-EU 4 170027239 170027239 single base substitution G A intron_variant BRCA-EU 4 170027300 170027300 single base substitution G A intron_variant BRCA-EU 4 170027980 170027980 single base substitution G T intron_variant BRCA-EU 4 170029547 170029547 insertion of <=200bp - AGACAGT intron_variant BRCA-EU 4 170029962 170029962 single base substitution C G intron_variant BRCA-EU 4 170030460 170030460 single base substitution C G intron_variant BRCA-EU 4 170030469 170030469 single base substitution C G intron_variant BRCA-EU 4 170030517 170030517 single base substitution C G intron_variant BRCA-EU 4 170030527 170030527 single base substitution C G intron_variant BRCA-EU 4 170031363 170031363 insertion of <=200bp - A intron_variant BRCA-EU 4 170031825 170031825 single base substitution G C intron_variant BRCA-EU 4 170031855 170031855 single base substitution G A intron_variant BRCA-EU 4 170032371 170032371 single base substitution G C intron_variant BRCA-EU 4 170033166 170033166 single base substitution C A downstream_gene_variant BRCA-EU 4 170033166 170033166 single base substitution C A intron_variant BRCA-EU 4 170033560 170033561 deletion of <=200bp AA - downstream_gene_variant BRCA-EU 4 170033560 170033561 deletion of <=200bp AA - intron_variant BRCA-EU 4 170036072 170036072 single base substitution C T downstream_gene_variant BRCA-EU 4 170036072 170036072 single base substitution C T intron_variant BRCA-EU 4 170036319 170036319 single base substitution C A downstream_gene_variant BRCA-EU 4 170036319 170036319 single base substitution C A intron_variant BRCA-EU 4 170038301 170038301 single base substitution G C intron_variant BRCA-EU 4 170039250 170039250 single base substitution C T intron_variant BRCA-EU 4 170039316 170039316 single base substitution C G intron_variant BRCA-EU 4 170039335 170039335 single base substitution C G intron_variant BRCA-EU 4 170039550 170039550 single base substitution C G intron_variant BRCA-EU 4 170039623 170039623 insertion of <=200bp - T intron_variant BRCA-EU 4 170040746 170040746 single base substitution C G intron_variant BRCA-EU 4 170040817 170040817 single base substitution G A intron_variant BRCA-EU 4 170040881 170040881 single base substitution G T intron_variant BRCA-EU 4 170040987 170040987 single base substitution A T intron_variant BRCA-EU 4 170043064 170043064 single base substitution C G intron_variant BRCA-EU 4 170043269 170043269 single base substitution G A exon_variant BRCA-EU 4 170043269 170043269 single base substitution G A missense_variant P443L 1328C>T BRCA-EU 4 170045314 170045314 single base substitution C T intron_variant BRCA-EU 4 170047120 170047120 single base substitution T G intron_variant BRCA-EU 4 170050479 170050480 deletion of <=200bp AC - intron_variant BRCA-EU 4 170052827 170052827 single base substitution C T intron_variant BRCA-EU 4 170053305 170053305 single base substitution C A intron_variant BRCA-EU 4 170053844 170053844 single base substitution T C intron_variant BRCA-EU 4 170057009 170057009 single base substitution T C intron_variant BRCA-EU 4 170057281 170057281 single base substitution C T intron_variant BRCA-EU 4 170058236 170058236 single base substitution G C intron_variant BRCA-EU 4 170058488 170058488 single base substitution G C intron_variant BRCA-EU 4 170059132 170059132 single base substitution A C intron_variant BRCA-EU 4 170060358 170060358 single base substitution G A intron_variant BRCA-EU 4 170061992 170061992 single base substitution T G intron_variant BRCA-EU 4 170064069 170064069 single base substitution G C intron_variant BRCA-EU 4 170064754 170064754 single base substitution C T intron_variant BRCA-EU 4 170065258 170065258 single base substitution A C intron_variant BRCA-EU 4 170066568 170066568 single base substitution G C intron_variant BRCA-EU 4 170066700 170066700 single base substitution C T intron_variant BRCA-EU 4 170067886 170067886 single base substitution A C intron_variant BRCA-EU 4 170067907 170067907 single base substitution A G intron_variant BRCA-EU 4 170069476 170069476 single base substitution C T intron_variant BRCA-EU 4 170071270 170071270 single base substitution C G intron_variant BRCA-EU 4 170071618 170071618 single base substitution C T intron_variant BRCA-EU 4 170072026 170072026 single base substitution G C intron_variant BRCA-EU 4 170072607 170072607 single base substitution G C intron_variant BRCA-EU 4 170074353 170074353 single base substitution G T intron_variant BRCA-EU 4 170074430 170074430 single base substitution C T intron_variant BRCA-EU 4 170077122 170077122 single base substitution C A intron_variant BRCA-EU 4 170078411 170078411 single base substitution T G intron_variant BRCA-EU 4 170078411 170078411 single base substitution T G upstream_gene_variant BRCA-EU 4 170078425 170078425 single base substitution G A intron_variant BRCA-EU 4 170078425 170078425 single base substitution G A upstream_gene_variant BRCA-EU 4 170078614 170078614 single base substitution A C intron_variant BRCA-EU 4 170078614 170078614 single base substitution A C upstream_gene_variant BRCA-EU 4 170083320 170083320 insertion of <=200bp - A intron_variant BRCA-EU 4 170083359 170083359 single base substitution T G intron_variant BRCA-EU 4 170083365 170083365 single base substitution T C intron_variant BRCA-EU 4 170083495 170083495 single base substitution T C intron_variant BRCA-EU 4 170085855 170085855 single base substitution G A intron_variant BRCA-EU 4 170085898 170085898 single base substitution C A intron_variant BRCA-EU 4 170086275 170086275 single base substitution G C intron_variant BRCA-EU 4 170087344 170087344 single base substitution C G intron_variant BRCA-EU 4 170087774 170087774 single base substitution G T intron_variant BRCA-EU 4 170087787 170087787 single base substitution A T intron_variant BRCA-EU 4 170090723 170090723 single base substitution G C intron_variant BRCA-EU 4 170091766 170091766 single base substitution C T intron_variant BRCA-EU 4 170092940 170092940 single base substitution G A intron_variant BRCA-EU 4 170092962 170092962 single base substitution G T intron_variant BRCA-EU 4 170093937 170093937 single base substitution C T intron_variant BRCA-EU 4 170094905 170094905 deletion of <=200bp T - intron_variant BRCA-EU 4 170095249 170095249 single base substitution C G intron_variant BRCA-EU 4 170095445 170095445 single base substitution C T intron_variant BRCA-EU 4 170100230 170100230 single base substitution G C intron_variant BRCA-EU 4 170100359 170100359 single base substitution C A intron_variant BRCA-EU 4 170100848 170100848 single base substitution C A intron_variant BRCA-EU 4 170101009 170101009 deletion of <=200bp T - intron_variant BRCA-EU 4 170101516 170101516 single base substitution T C intron_variant BRCA-EU 4 170102072 170102072 single base substitution C G intron_variant BRCA-EU 4 170102078 170102078 single base substitution G A intron_variant BRCA-EU 4 170104739 170104739 deletion of <=200bp T - intron_variant BRCA-EU 4 170104943 170104943 deletion of <=200bp A - intron_variant BRCA-EU 4 170108409 170108409 single base substitution G A intron_variant BRCA-EU 4 170110563 170110563 single base substitution G A intron_variant BRCA-EU 4 170112956 170112956 single base substitution C T intron_variant BRCA-EU 4 170113412 170113412 single base substitution T A intron_variant BRCA-EU 4 170114332 170114332 single base substitution C T intron_variant BRCA-EU 4 170115237 170115237 deletion of <=200bp T - intron_variant BRCA-EU 4 170117863 170117863 single base substitution C T intron_variant BRCA-EU 4 170119756 170119756 deletion of <=200bp T - intron_variant BRCA-EU 4 170121206 170121206 insertion of <=200bp - A intron_variant BRCA-EU 4 170123824 170123824 single base substitution T A intron_variant BRCA-EU 4 170123932 170123932 single base substitution C T intron_variant BRCA-EU 4 170125682 170125682 single base substitution A G intron_variant BRCA-EU 4 170127689 170127689 deletion of <=200bp A - intron_variant BRCA-EU 4 170129163 170129163 insertion of <=200bp - G intron_variant BRCA-EU 4 170131290 170131290 single base substitution G A intron_variant BRCA-EU 4 170132517 170132517 single base substitution C T intron_variant BRCA-EU 4 170132763 170132767 deletion of <=200bp ACTGT - intron_variant BRCA-EU 4 170132946 170132946 single base substitution C G intron_variant BRCA-EU 4 170133466 170133466 single base substitution C T intron_variant BRCA-EU 4 170133529 170133529 single base substitution T A intron_variant BRCA-EU 4 170134561 170134561 single base substitution G T intron_variant BRCA-EU 4 170134857 170134857 single base substitution T C intron_variant BRCA-EU 4 170135346 170135346 single base substitution T A intron_variant BRCA-EU 4 170135774 170135774 single base substitution C T intron_variant BRCA-EU 4 170139383 170139383 single base substitution C G intron_variant BRCA-EU 4 170140192 170140192 single base substitution C T intron_variant BRCA-EU 4 170140677 170140677 insertion of <=200bp - A intron_variant BRCA-EU 4 170142818 170142818 single base substitution T C intron_variant BRCA-EU 4 170148318 170148318 deletion of <=200bp A - intron_variant BRCA-EU 4 170149995 170149995 single base substitution T C intron_variant BRCA-EU 4 170150927 170150927 single base substitution C G intron_variant BRCA-EU 4 170151870 170151870 single base substitution C G intron_variant BRCA-EU 4 170151921 170151921 single base substitution C T intron_variant BRCA-EU 4 170152477 170152477 deletion of <=200bp G - intron_variant BRCA-EU 4 170152777 170152777 single base substitution C G intron_variant BRCA-EU 4 170152845 170152845 single base substitution C G intron_variant BRCA-EU 4 170157731 170157731 single base substitution G C intron_variant BRCA-EU 4 170157978 170157978 single base substitution C G intron_variant BRCA-EU 4 170159000 170159000 single base substitution C G intron_variant BRCA-EU 4 170159813 170159813 single base substitution G C intron_variant BRCA-EU 4 170160257 170160257 single base substitution C A intron_variant BRCA-EU 4 170161382 170161382 single base substitution C G intron_variant BRCA-EU 4 170161600 170161600 single base substitution C T intron_variant BRCA-EU 4 170161867 170161867 single base substitution T C intron_variant BRCA-EU 4 170162304 170162304 single base substitution C T intron_variant BRCA-EU 4 170162449 170162449 single base substitution T C intron_variant BRCA-EU 4 170162836 170162836 single base substitution G A intron_variant BRCA-EU 4 170163278 170163278 single base substitution T A intron_variant BRCA-EU 4 170164181 170164181 single base substitution G C intron_variant BRCA-EU 4 170164842 170164842 single base substitution G A intron_variant BRCA-EU 4 170165591 170165591 single base substitution G T intron_variant BRCA-EU 4 170165613 170165613 single base substitution G A intron_variant BRCA-EU 4 170166542 170166542 single base substitution T A intron_variant BRCA-EU 4 170170114 170170114 single base substitution C T intron_variant BRCA-EU 4 170171569 170171569 single base substitution C T intron_variant BRCA-EU 4 170172094 170172094 single base substitution G A intron_variant BRCA-EU 4 170172362 170172362 single base substitution G A intron_variant BRCA-EU 4 170175716 170175716 single base substitution T C intron_variant BRCA-EU 4 170178996 170178996 single base substitution T A intron_variant BRCA-EU 4 170183458 170183458 insertion of <=200bp - T intron_variant BRCA-EU 4 170183629 170183629 single base substitution C T intron_variant BRCA-EU 4 170183805 170183805 single base substitution G A intron_variant BRCA-EU 4 170186812 170186812 single base substitution C T downstream_gene_variant BRCA-EU 4 170186812 170186812 single base substitution C T intron_variant BRCA-EU 4 170187291 170187291 single base substitution G A downstream_gene_variant BRCA-EU 4 170187291 170187291 single base substitution G A intron_variant BRCA-EU 4 170188467 170188467 single base substitution C G downstream_gene_variant BRCA-EU 4 170188467 170188467 single base substitution C G intron_variant BRCA-EU 4 170188870 170188870 single base substitution A G downstream_gene_variant BRCA-EU 4 170188870 170188870 single base substitution A G intron_variant BRCA-EU 4 170190299 170190299 single base substitution G T missense_variant S22Y 65C>A BRCA-EU 4 170190299 170190299 single base substitution G T upstream_gene_variant BRCA-EU 4 170191882 170191882 single base substitution G C intron_variant BRCA-EU 4 170191882 170191882 single base substitution G C upstream_gene_variant BRCA-EU 4 170192127 170192127 single base substitution G A 5_prime_UTR_variant BRCA-EU 4 170192127 170192127 single base substitution G A upstream_gene_variant BRCA-EU 4 170192233 170192233 single base substitution G C 5_prime_UTR_variant BRCA-EU 4 170192233 170192233 single base substitution G C upstream_gene_variant BRCA-EU 4 170192897 170192897 single base substitution G A upstream_gene_variant BRCA-EU 4 170193094 170193094 single base substitution G A upstream_gene_variant BRCA-EU 4 170193476 170193476 single base substitution A G upstream_gene_variant BRCA-EU 4 170194421 170194421 single base substitution T G upstream_gene_variant BRCA-EU 4 170194433 170194433 single base substitution A C upstream_gene_variant BRCA-EU 4 170194648 170194648 single base substitution A G upstream_gene_variant BRCA-EU 4 170194853 170194853 single base substitution C G upstream_gene_variant BRCA-EU 4 170194880 170194880 single base substitution G A upstream_gene_variant BRCA-EU 4 170195610 170195610 single base substitution C T upstream_gene_variant BRCA-FR 4 170011371 170011371 single base substitution C G downstream_gene_variant BRCA-FR 4 170016989 170016989 single base substitution C T 3_prime_UTR_variant BRCA-FR 4 170022667 170022667 single base substitution C G intron_variant BRCA-FR 4 170024030 170024030 single base substitution C G intron_variant BRCA-FR 4 170027980 170027980 single base substitution G T intron_variant BRCA-FR 4 170033166 170033166 single base substitution C A downstream_gene_variant BRCA-FR 4 170033166 170033166 single base substitution C A intron_variant BRCA-FR 4 170040746 170040746 single base substitution C G intron_variant BRCA-FR 4 170074852 170074852 single base substitution C T intron_variant BRCA-FR 4 170095249 170095249 single base substitution C G intron_variant BRCA-FR 4 170098473 170098473 single base substitution G C intron_variant BRCA-FR 4 170099379 170099379 single base substitution G C intron_variant BRCA-FR 4 170152845 170152845 single base substitution C G intron_variant BRCA-FR 4 170159000 170159000 single base substitution C G intron_variant BRCA-FR 4 170159813 170159813 single base substitution G C intron_variant BRCA-FR 4 170161382 170161382 single base substitution C G intron_variant BRCA-FR 4 170162304 170162304 single base substitution C T intron_variant BRCA-FR 4 170165591 170165591 single base substitution G T intron_variant BRCA-FR 4 170188467 170188467 single base substitution C G downstream_gene_variant BRCA-FR 4 170188467 170188467 single base substitution C G intron_variant BRCA-FR 4 170190532 170190532 single base substitution G A intron_variant BRCA-FR 4 170190532 170190532 single base substitution G A upstream_gene_variant BRCA-UK 4 170011869 170011869 single base substitution C T downstream_gene_variant BRCA-UK 4 170022298 170022298 single base substitution G T intron_variant BRCA-UK 4 170030478 170030478 single base substitution T C intron_variant BRCA-UK 4 170039250 170039250 single base substitution C T intron_variant BRCA-UK 4 170039316 170039316 single base substitution C G intron_variant BRCA-UK 4 170039550 170039550 single base substitution C G intron_variant BRCA-UK 4 170095445 170095445 single base substitution C T intron_variant BRCA-UK 4 170099398 170099398 single base substitution G A intron_variant BRCA-UK 4 170132517 170132517 single base substitution C T intron_variant BRCA-UK 4 170157065 170157065 single base substitution C G intron_variant BRCA-US 4 170017808 170017808 single base substitution C T synonymous_variant Q843Q 2529G>A BRCA-US 4 170037744 170037744 single base substitution C T 3_prime_UTR_variant BRCA-US 4 170037744 170037744 single base substitution C T exon_variant BRCA-US 4 170037744 170037744 single base substitution C T synonymous_variant V605V 1815G>A BRCA-US 4 170038689 170038689 single base substitution T C 3_prime_UTR_variant BRCA-US 4 170038689 170038689 single base substitution T C exon_variant BRCA-US 4 170038689 170038689 single base substitution T C missense_variant N588D 1762A>G BRCA-US 4 170057685 170057685 single base substitution G A exon_variant BRCA-US 4 170057685 170057685 single base substitution G A synonymous_variant A284A 852C>T BTCA-JP 4 170051209 170051209 single base substitution T G exon_variant BTCA-JP 4 170051209 170051209 single base substitution T G missense_variant Q389H 1167A>C BTCA-JP 4 170190362 170190362 single base substitution A G start_lost M1T 2T>C BTCA-JP 4 170190362 170190362 single base substitution A G upstream_gene_variant CESC-US 4 170037479 170037479 single base substitution C T 3_prime_UTR_variant CESC-US 4 170037479 170037479 single base substitution C T exon_variant CESC-US 4 170037479 170037479 single base substitution C T missense_variant D694N 2080G>A CESC-US 4 170038882 170038882 single base substitution C G 3_prime_UTR_variant CESC-US 4 170038882 170038882 single base substitution C G exon_variant CESC-US 4 170038882 170038882 single base substitution C G missense_variant Q523H 1569G>C CESC-US 4 170077646 170077646 single base substitution G A exon_variant CESC-US 4 170077646 170077646 single base substitution G A missense_variant P193L 578C>T CLLE-ES 4 170019998 170019998 single base substitution C A intron_variant CLLE-ES 4 170020051 170020051 single base substitution T C intron_variant CLLE-ES 4 170020114 170020114 single base substitution T C intron_variant CLLE-ES 4 170026568 170026568 single base substitution A T intron_variant CLLE-ES 4 170065108 170065108 single base substitution T A intron_variant CLLE-ES 4 170067308 170067309 deletion of <=200bp AT - intron_variant CLLE-ES 4 170098397 170098397 single base substitution C T intron_variant CLLE-ES 4 170101433 170101433 single base substitution C G intron_variant CLLE-ES 4 170123466 170123466 single base substitution C T intron_variant CLLE-ES 4 170151996 170151996 single base substitution G T intron_variant CLLE-ES 4 170152116 170152116 single base substitution G T intron_variant CLLE-ES 4 170155377 170155377 single base substitution G T intron_variant CLLE-ES 4 170166356 170166356 single base substitution C A intron_variant CLLE-ES 4 170166872 170166872 single base substitution G A intron_variant CLLE-ES 4 170173304 170173304 single base substitution T C intron_variant CLLE-ES 4 170189811 170189811 single base substitution A G downstream_gene_variant CLLE-ES 4 170189811 170189811 single base substitution A G intron_variant COAD-US 4 170037692 170037692 single base substitution G A 3_prime_UTR_variant COAD-US 4 170037692 170037692 single base substitution G A exon_variant COAD-US 4 170037692 170037692 single base substitution G A synonymous_variant L623L 1867C>T COAD-US 4 170057543 170057543 single base substitution T C exon_variant COAD-US 4 170057543 170057543 single base substitution T C missense_variant I332V 994A>G COAD-US 4 170057631 170057631 single base substitution C T exon_variant COAD-US 4 170057631 170057631 single base substitution C T synonymous_variant R302R 906G>A COAD-US 4 170076639 170076639 single base substitution A G exon_variant COAD-US 4 170076639 170076639 single base substitution A G missense_variant Y253H 757T>C COAD-US 4 170077733 170077733 single base substitution C T exon_variant COAD-US 4 170077733 170077733 single base substitution C T missense_variant R164Q 491G>A COCA-CN 4 170038650 170038650 single base substitution G A intron_variant COCA-CN 4 170057821 170057821 single base substitution G T intron_variant COCA-CN 4 170077432 170077432 single base substitution A G intron_variant COCA-CN 4 170088024 170088024 single base substitution T A intron_variant COCA-CN 4 170150562 170150562 single base substitution T G intron_variant COCA-CN 4 170190358 170190358 single base substitution A G synonymous_variant D2D 6T>C COCA-CN 4 170190358 170190358 single base substitution A G upstream_gene_variant ESAD-UK 4 170012327 170012327 single base substitution T A downstream_gene_variant ESAD-UK 4 170012419 170012419 single base substitution C T downstream_gene_variant ESAD-UK 4 170019746 170019746 single base substitution A C intron_variant ESAD-UK 4 170021002 170021002 single base substitution C T intron_variant ESAD-UK 4 170022495 170022495 single base substitution G T intron_variant ESAD-UK 4 170023547 170023547 single base substitution T G intron_variant ESAD-UK 4 170023548 170023548 single base substitution T G intron_variant ESAD-UK 4 170025066 170025066 single base substitution C T intron_variant ESAD-UK 4 170028336 170028336 single base substitution C T synonymous_variant L720L 2160G>A ESAD-UK 4 170028504 170028504 single base substitution C A intron_variant ESAD-UK 4 170032754 170032754 single base substitution A G downstream_gene_variant ESAD-UK 4 170032754 170032754 single base substitution A G intron_variant ESAD-UK 4 170033204 170033204 single base substitution A C downstream_gene_variant ESAD-UK 4 170033204 170033204 single base substitution A C intron_variant ESAD-UK 4 170033251 170033251 single base substitution C A downstream_gene_variant ESAD-UK 4 170033251 170033251 single base substitution C A intron_variant ESAD-UK 4 170033882 170033882 single base substitution T G downstream_gene_variant ESAD-UK 4 170033882 170033882 single base substitution T G intron_variant ESAD-UK 4 170036959 170036959 single base substitution A C downstream_gene_variant ESAD-UK 4 170036959 170036959 single base substitution A C intron_variant ESAD-UK 4 170037623 170037623 single base substitution C T 3_prime_UTR_variant ESAD-UK 4 170037623 170037623 single base substitution C T exon_variant ESAD-UK 4 170037623 170037623 single base substitution C T missense_variant A646T 1936G>A ESAD-UK 4 170039623 170039623 deletion of <=200bp T - intron_variant ESAD-UK 4 170039887 170039887 deletion of <=200bp T - intron_variant ESAD-UK 4 170040913 170040913 single base substitution G T intron_variant ESAD-UK 4 170043412 170043412 single base substitution C A exon_variant ESAD-UK 4 170043412 170043412 single base substitution C A intron_variant ESAD-UK 4 170043412 170043412 single base substitution C A missense_variant L395F 1185G>T ESAD-UK 4 170046044 170046044 single base substitution C G intron_variant ESAD-UK 4 170046470 170046470 single base substitution C T intron_variant ESAD-UK 4 170047752 170047752 insertion of <=200bp - T intron_variant ESAD-UK 4 170048541 170048543 deletion of <=200bp TAA - intron_variant ESAD-UK 4 170048654 170048654 single base substitution T C intron_variant ESAD-UK 4 170049189 170049189 single base substitution G A intron_variant ESAD-UK 4 170050649 170050649 single base substitution G T intron_variant ESAD-UK 4 170058664 170058664 deletion of <=200bp A - intron_variant ESAD-UK 4 170061013 170061013 single base substitution A G intron_variant ESAD-UK 4 170062430 170062430 single base substitution C T intron_variant ESAD-UK 4 170062694 170062694 single base substitution A C intron_variant ESAD-UK 4 170063242 170063242 single base substitution T C intron_variant ESAD-UK 4 170064967 170064967 single base substitution T C intron_variant ESAD-UK 4 170065584 170065584 single base substitution C T intron_variant ESAD-UK 4 170078718 170078718 single base substitution C T intron_variant ESAD-UK 4 170078718 170078718 single base substitution C T upstream_gene_variant ESAD-UK 4 170078882 170078882 single base substitution C T intron_variant ESAD-UK 4 170078882 170078882 single base substitution C T upstream_gene_variant ESAD-UK 4 170083327 170083327 insertion of <=200bp - G intron_variant ESAD-UK 4 170083816 170083816 single base substitution G A intron_variant ESAD-UK 4 170085706 170085706 single base substitution A T intron_variant ESAD-UK 4 170087155 170087155 single base substitution A C intron_variant ESAD-UK 4 170089685 170089685 single base substitution C T intron_variant ESAD-UK 4 170089841 170089841 single base substitution A G intron_variant ESAD-UK 4 170091473 170091473 single base substitution C T intron_variant ESAD-UK 4 170096038 170096038 single base substitution T G intron_variant ESAD-UK 4 170098585 170098585 single base substitution G C intron_variant ESAD-UK 4 170103498 170103498 single base substitution G A intron_variant ESAD-UK 4 170107403 170107403 single base substitution A C intron_variant ESAD-UK 4 170113987 170113987 single base substitution G T intron_variant ESAD-UK 4 170114070 170114070 single base substitution T G intron_variant ESAD-UK 4 170114899 170114899 single base substitution A C intron_variant ESAD-UK 4 170115296 170115296 single base substitution G A intron_variant ESAD-UK 4 170115668 170115668 single base substitution G T intron_variant ESAD-UK 4 170116573 170116573 single base substitution C G intron_variant ESAD-UK 4 170119875 170119875 single base substitution T C intron_variant ESAD-UK 4 170122060 170122060 single base substitution A C intron_variant ESAD-UK 4 170123058 170123058 single base substitution T G intron_variant ESAD-UK 4 170125900 170125900 single base substitution C T intron_variant ESAD-UK 4 170127653 170127653 single base substitution G A intron_variant ESAD-UK 4 170128397 170128397 single base substitution A C intron_variant ESAD-UK 4 170133466 170133466 single base substitution C G intron_variant ESAD-UK 4 170135479 170135479 single base substitution G A intron_variant ESAD-UK 4 170138895 170138895 insertion of <=200bp - A intron_variant ESAD-UK 4 170139034 170139034 deletion of <=200bp A - intron_variant ESAD-UK 4 170139792 170139792 single base substitution G A intron_variant ESAD-UK 4 170140681 170140681 single base substitution A C intron_variant ESAD-UK 4 170144063 170144063 single base substitution C T intron_variant ESAD-UK 4 170148291 170148291 single base substitution C T intron_variant ESAD-UK 4 170150581 170150581 single base substitution C T intron_variant ESAD-UK 4 170153407 170153407 single base substitution C A intron_variant ESAD-UK 4 170155476 170155476 single base substitution C A intron_variant ESAD-UK 4 170155582 170155582 single base substitution G A intron_variant ESAD-UK 4 170155683 170155683 single base substitution T G intron_variant ESAD-UK 4 170157531 170157531 single base substitution G A intron_variant ESAD-UK 4 170158360 170158360 single base substitution G A intron_variant ESAD-UK 4 170159413 170159413 single base substitution C G intron_variant ESAD-UK 4 170162510 170162510 single base substitution A G intron_variant ESAD-UK 4 170163278 170163278 single base substitution T A intron_variant ESAD-UK 4 170163549 170163549 single base substitution G A intron_variant ESAD-UK 4 170163923 170163923 single base substitution C T intron_variant ESAD-UK 4 170167084 170167084 single base substitution C A intron_variant ESAD-UK 4 170167871 170167871 single base substitution A G intron_variant ESAD-UK 4 170168917 170168917 single base substitution C T intron_variant ESAD-UK 4 170171543 170171543 single base substitution G T intron_variant ESAD-UK 4 170173129 170173129 single base substitution A G intron_variant ESAD-UK 4 170181073 170181073 single base substitution G A intron_variant ESAD-UK 4 170184231 170184231 single base substitution A T intron_variant ESAD-UK 4 170185898 170185898 single base substitution T G downstream_gene_variant ESAD-UK 4 170185898 170185898 single base substitution T G intron_variant ESAD-UK 4 170186668 170186668 single base substitution A G downstream_gene_variant ESAD-UK 4 170186668 170186668 single base substitution A G intron_variant ESAD-UK 4 170188083 170188083 single base substitution C G downstream_gene_variant ESAD-UK 4 170188083 170188083 single base substitution C G intron_variant ESAD-UK 4 170196223 170196223 single base substitution T G upstream_gene_variant GBM-US 4 170190261 170190261 single base substitution G C missense_variant R35G 103C>G GBM-US 4 170190261 170190261 single base substitution G C upstream_gene_variant KIRP-US 4 170028338 170028338 single base substitution A G synonymous_variant L720L 2158T>C LAML-KR 4 170051220 170051220 single base substitution C T exon_variant LAML-KR 4 170051220 170051220 single base substitution C T missense_variant V386I 1156G>A LAML-KR 4 170054820 170054820 single base substitution T C intron_variant LAML-KR 4 170054821 170054821 single base substitution G A intron_variant LAML-KR 4 170076812 170076812 single base substitution A T intron_variant LAML-KR 4 170108177 170108177 single base substitution T A intron_variant LAML-KR 4 170124874 170124874 single base substitution C T intron_variant LGG-US 4 170017683 170017690 deletion of <=200bp ACAAAGCT - frameshift_variant SFV883 LGG-US 4 170042112 170042112 single base substitution G A exon_variant LGG-US 4 170042112 170042112 single base substitution G A missense_variant R459W 1375C>T LGG-US 4 170043326 170043326 single base substitution G A exon_variant LGG-US 4 170043326 170043326 single base substitution G A missense_variant A424V 1271C>T LICA-CN 4 170043376 170043376 single base substitution G A exon_variant LICA-CN 4 170043376 170043376 single base substitution G A intron_variant LICA-CN 4 170043376 170043376 single base substitution G A synonymous_variant A407A 1221C>T LICA-FR 4 170012202 170012202 single base substitution G T downstream_gene_variant LICA-FR 4 170036937 170036937 single base substitution T C downstream_gene_variant LICA-FR 4 170036937 170036937 single base substitution T C intron_variant LICA-FR 4 170038801 170038801 single base substitution C T 3_prime_UTR_variant LICA-FR 4 170038801 170038801 single base substitution C T exon_variant LICA-FR 4 170038801 170038801 single base substitution C T synonymous_variant G550G 1650G>A LICA-FR 4 170043322 170043322 single base substitution T C exon_variant LICA-FR 4 170043322 170043322 single base substitution T C synonymous_variant G425G 1275A>G LICA-FR 4 170056326 170056326 insertion of <=200bp - AAAC intron_variant LICA-FR 4 170070173 170070173 single base substitution T C intron_variant LICA-FR 4 170070174 170070174 single base substitution G C intron_variant LICA-FR 4 170077528 170077528 single base substitution C T intron_variant LICA-FR 4 170096633 170096633 single base substitution G C intron_variant LICA-FR 4 170108037 170108037 single base substitution T G intron_variant LICA-FR 4 170117934 170117934 single base substitution G A intron_variant LICA-FR 4 170135324 170135324 single base substitution C A intron_variant LICA-FR 4 170164699 170164699 single base substitution A T intron_variant LICA-FR 4 170184949 170184949 single base substitution T C intron_variant LIHC-US 4 170077556 170077556 single base substitution T G missense_variant K223T 668A>C LIHC-US 4 170077556 170077556 single base substitution T G splice_region_variant LIHC-US 4 170077719 170077719 single base substitution C T exon_variant LIHC-US 4 170077719 170077719 single base substitution C T missense_variant E169K 505G>A LINC-JP 4 170014453 170014453 single base substitution A G downstream_gene_variant LINC-JP 4 170016092 170016092 single base substitution T C 3_prime_UTR_variant LINC-JP 4 170023546 170023546 deletion of <=200bp A - intron_variant LINC-JP 4 170026193 170026193 single base substitution G T intron_variant LINC-JP 4 170029124 170029124 single base substitution G T intron_variant LINC-JP 4 170034309 170034309 single base substitution T A downstream_gene_variant LINC-JP 4 170034309 170034309 single base substitution T A intron_variant LINC-JP 4 170038615 170038615 single base substitution C T intron_variant LINC-JP 4 170048680 170048680 single base substitution C A intron_variant LINC-JP 4 170058782 170058782 single base substitution T C intron_variant LINC-JP 4 170059951 170059951 single base substitution C T intron_variant LINC-JP 4 170062951 170062951 single base substitution G A intron_variant LINC-JP 4 170070360 170070360 single base substitution T C intron_variant LINC-JP 4 170071180 170071180 single base substitution C T intron_variant LINC-JP 4 170076077 170076077 single base substitution A C intron_variant LINC-JP 4 170076559 170076559 single base substitution C G intron_variant LINC-JP 4 170093875 170093875 single base substitution G A intron_variant LINC-JP 4 170099424 170099424 single base substitution T A intron_variant LINC-JP 4 170104915 170104915 single base substitution C A intron_variant LINC-JP 4 170116064 170116064 single base substitution A G intron_variant LINC-JP 4 170138907 170138907 single base substitution T C intron_variant LINC-JP 4 170152299 170152299 single base substitution A G intron_variant LINC-JP 4 170159638 170159638 single base substitution T C intron_variant LINC-JP 4 170160421 170160421 single base substitution T C intron_variant LINC-JP 4 170162730 170162730 single base substitution C A intron_variant LINC-JP 4 170167120 170167120 single base substitution T C intron_variant LINC-JP 4 170171283 170171283 single base substitution T C intron_variant LINC-JP 4 170175607 170175607 single base substitution T C intron_variant LINC-JP 4 170175953 170175953 single base substitution C G intron_variant LINC-JP 4 170178562 170178562 single base substitution T C intron_variant LINC-JP 4 170190431 170190431 single base substitution T A 5_prime_UTR_variant LINC-JP 4 170190431 170190431 single base substitution T A upstream_gene_variant LINC-JP 4 170194899 170194899 single base substitution A C upstream_gene_variant LIRI-JP 4 170011055 170011055 single base substitution T C downstream_gene_variant LIRI-JP 4 170014301 170014301 single base substitution T C downstream_gene_variant LIRI-JP 4 170017084 170017084 single base substitution T C 3_prime_UTR_variant LIRI-JP 4 170017196 170017196 single base substitution A C 3_prime_UTR_variant LIRI-JP 4 170019982 170019982 single base substitution A G intron_variant LIRI-JP 4 170023752 170023752 single base substitution T C intron_variant LIRI-JP 4 170023999 170023999 single base substitution T C intron_variant LIRI-JP 4 170024673 170024673 single base substitution T C intron_variant LIRI-JP 4 170025926 170025926 single base substitution C T intron_variant LIRI-JP 4 170027248 170027249 deletion of <=200bp TA - intron_variant LIRI-JP 4 170029229 170029242 deletion of <=200bp CCTTCATTCTGAAA - intron_variant LIRI-JP 4 170031330 170031330 single base substitution G C intron_variant LIRI-JP 4 170034342 170034342 single base substitution A G downstream_gene_variant LIRI-JP 4 170034342 170034342 single base substitution A G intron_variant LIRI-JP 4 170034540 170034540 single base substitution T A downstream_gene_variant LIRI-JP 4 170034540 170034540 single base substitution T A intron_variant LIRI-JP 4 170034753 170034753 single base substitution A G downstream_gene_variant LIRI-JP 4 170034753 170034753 single base substitution A G intron_variant LIRI-JP 4 170035390 170035390 single base substitution C A downstream_gene_variant LIRI-JP 4 170035390 170035390 single base substitution C A intron_variant LIRI-JP 4 170035883 170035883 single base substitution T C downstream_gene_variant LIRI-JP 4 170035883 170035883 single base substitution T C intron_variant LIRI-JP 4 170036346 170036349 deletion of <=200bp ATGT - downstream_gene_variant LIRI-JP 4 170036346 170036349 deletion of <=200bp ATGT - intron_variant LIRI-JP 4 170038401 170038401 single base substitution C T intron_variant LIRI-JP 4 170039105 170039105 single base substitution G C intron_variant LIRI-JP 4 170039106 170039106 single base substitution A C intron_variant LIRI-JP 4 170039600 170039600 single base substitution T C intron_variant LIRI-JP 4 170040621 170040621 single base substitution T C intron_variant LIRI-JP 4 170041194 170041194 single base substitution C T intron_variant LIRI-JP 4 170043147 170043147 single base substitution T C intron_variant LIRI-JP 4 170046596 170046596 single base substitution G A intron_variant LIRI-JP 4 170046669 170046669 single base substitution G A intron_variant LIRI-JP 4 170046672 170046672 single base substitution C A intron_variant LIRI-JP 4 170051019 170051019 single base substitution G A intron_variant LIRI-JP 4 170052618 170052618 single base substitution T C intron_variant LIRI-JP 4 170052633 170052633 single base substitution T C intron_variant LIRI-JP 4 170053906 170053906 single base substitution T C intron_variant LIRI-JP 4 170058198 170058198 single base substitution A C intron_variant LIRI-JP 4 170058735 170058735 single base substitution T C intron_variant LIRI-JP 4 170058874 170058874 single base substitution G T intron_variant LIRI-JP 4 170059500 170059500 single base substitution T A intron_variant LIRI-JP 4 170061274 170061274 single base substitution T C intron_variant LIRI-JP 4 170064738 170064738 single base substitution T C intron_variant LIRI-JP 4 170065169 170065169 single base substitution G C intron_variant LIRI-JP 4 170066323 170066323 single base substitution G A intron_variant LIRI-JP 4 170068896 170068896 single base substitution T C intron_variant LIRI-JP 4 170073035 170073035 single base substitution C A intron_variant LIRI-JP 4 170073036 170073036 single base substitution C A intron_variant LIRI-JP 4 170073051 170073051 single base substitution A G intron_variant LIRI-JP 4 170073962 170073962 single base substitution C G intron_variant LIRI-JP 4 170076839 170076839 single base substitution A C intron_variant LIRI-JP 4 170078323 170078323 single base substitution T C intron_variant LIRI-JP 4 170078323 170078323 single base substitution T C upstream_gene_variant LIRI-JP 4 170082109 170082109 single base substitution C A intron_variant LIRI-JP 4 170082109 170082109 single base substitution C A upstream_gene_variant LIRI-JP 4 170082238 170082238 single base substitution T G intron_variant LIRI-JP 4 170082238 170082238 single base substitution T G upstream_gene_variant LIRI-JP 4 170083303 170083303 single base substitution G A intron_variant LIRI-JP 4 170084237 170084237 single base substitution G C intron_variant LIRI-JP 4 170090988 170090988 single base substitution C T intron_variant LIRI-JP 4 170092858 170092858 single base substitution A C intron_variant LIRI-JP 4 170093093 170093093 insertion of <=200bp - TT intron_variant LIRI-JP 4 170093974 170093974 single base substitution T C intron_variant LIRI-JP 4 170096959 170096959 single base substitution T C intron_variant LIRI-JP 4 170097523 170097523 single base substitution A T intron_variant LIRI-JP 4 170100463 170100463 single base substitution A T intron_variant LIRI-JP 4 170102278 170102278 single base substitution A T intron_variant LIRI-JP 4 170104150 170104150 single base substitution T C intron_variant LIRI-JP 4 170105790 170105790 single base substitution A C intron_variant LIRI-JP 4 170107239 170107239 single base substitution A T intron_variant LIRI-JP 4 170107360 170107360 single base substitution A C intron_variant LIRI-JP 4 170107517 170107517 single base substitution T C intron_variant LIRI-JP 4 170110001 170110001 single base substitution C T intron_variant LIRI-JP 4 170111909 170111909 single base substitution G A intron_variant LIRI-JP 4 170117649 170117649 single base substitution T C intron_variant LIRI-JP 4 170120422 170120422 single base substitution T G intron_variant LIRI-JP 4 170121949 170121949 single base substitution T C intron_variant LIRI-JP 4 170122644 170122644 single base substitution T C intron_variant LIRI-JP 4 170126779 170126779 single base substitution C G intron_variant LIRI-JP 4 170127267 170127267 single base substitution T A intron_variant LIRI-JP 4 170127329 170127329 single base substitution A G intron_variant LIRI-JP 4 170130976 170130976 single base substitution T G intron_variant LIRI-JP 4 170136267 170136267 single base substitution C T intron_variant LIRI-JP 4 170136777 170136777 single base substitution C T intron_variant LIRI-JP 4 170139303 170139303 single base substitution T C intron_variant LIRI-JP 4 170140146 170140146 single base substitution C A intron_variant LIRI-JP 4 170141343 170141343 single base substitution T C intron_variant LIRI-JP 4 170142291 170142291 single base substitution G C intron_variant LIRI-JP 4 170142454 170142454 single base substitution T C intron_variant LIRI-JP 4 170142781 170142781 single base substitution A T intron_variant LIRI-JP 4 170145103 170145103 single base substitution T A intron_variant LIRI-JP 4 170145532 170145532 single base substitution G A intron_variant LIRI-JP 4 170146954 170146954 single base substitution A T intron_variant LIRI-JP 4 170147617 170147617 single base substitution A C intron_variant LIRI-JP 4 170148684 170148684 single base substitution C T intron_variant LIRI-JP 4 170151187 170151187 single base substitution T C intron_variant LIRI-JP 4 170157279 170157279 single base substitution C T intron_variant LIRI-JP 4 170157561 170157561 single base substitution G A intron_variant LIRI-JP 4 170158612 170158612 single base substitution C A intron_variant LIRI-JP 4 170169090 170169090 single base substitution A T intron_variant LIRI-JP 4 170169357 170169357 single base substitution C T intron_variant LIRI-JP 4 170170688 170170688 single base substitution T C intron_variant LIRI-JP 4 170172179 170172179 single base substitution A T intron_variant LIRI-JP 4 170173327 170173327 single base substitution T A intron_variant LIRI-JP 4 170179823 170179823 single base substitution G A intron_variant LIRI-JP 4 170182074 170182074 single base substitution C T intron_variant LIRI-JP 4 170185287 170185287 single base substitution T C downstream_gene_variant LIRI-JP 4 170185287 170185287 single base substitution T C intron_variant LIRI-JP 4 170190564 170190567 deletion of <=200bp CTGT - intron_variant LIRI-JP 4 170190564 170190567 deletion of <=200bp CTGT - upstream_gene_variant LIRI-JP 4 170191459 170191459 single base substitution A C intron_variant LIRI-JP 4 170191459 170191459 single base substitution A C upstream_gene_variant LIRI-JP 4 170193100 170193100 single base substitution A C upstream_gene_variant LIRI-JP 4 170193764 170193764 single base substitution A G upstream_gene_variant LIRI-JP 4 170197072 170197072 single base substitution A G upstream_gene_variant LUSC-KR 4 170013634 170013634 single base substitution G T downstream_gene_variant LUSC-KR 4 170014290 170014290 single base substitution T C downstream_gene_variant LUSC-KR 4 170014942 170014942 single base substitution A G downstream_gene_variant LUSC-KR 4 170033216 170033216 single base substitution C A downstream_gene_variant LUSC-KR 4 170033216 170033216 single base substitution C A intron_variant LUSC-KR 4 170054281 170054281 single base substitution T C intron_variant LUSC-KR 4 170054624 170054624 single base substitution C A intron_variant LUSC-KR 4 170063408 170063408 single base substitution T C intron_variant LUSC-KR 4 170067518 170067518 single base substitution T G intron_variant LUSC-KR 4 170080321 170080321 single base substitution C G intron_variant LUSC-KR 4 170080321 170080321 single base substitution C G upstream_gene_variant LUSC-KR 4 170084653 170084653 single base substitution G C intron_variant LUSC-KR 4 170088827 170088827 single base substitution T A intron_variant LUSC-KR 4 170098492 170098492 single base substitution C T intron_variant LUSC-KR 4 170099379 170099379 single base substitution G A intron_variant LUSC-KR 4 170107192 170107192 single base substitution G T intron_variant LUSC-KR 4 170113923 170113923 single base substitution T C intron_variant LUSC-KR 4 170119241 170119241 single base substitution G C intron_variant LUSC-KR 4 170124320 170124320 single base substitution C A intron_variant LUSC-KR 4 170132458 170132458 single base substitution C A intron_variant LUSC-KR 4 170141535 170141535 single base substitution C A intron_variant LUSC-KR 4 170142513 170142513 single base substitution G A intron_variant LUSC-KR 4 170143141 170143141 single base substitution C G intron_variant LUSC-KR 4 170147189 170147189 single base substitution C A intron_variant LUSC-KR 4 170156550 170156550 single base substitution C A intron_variant LUSC-KR 4 170158251 170158251 single base substitution T C intron_variant LUSC-KR 4 170181873 170181873 single base substitution C A intron_variant LUSC-KR 4 170181874 170181874 single base substitution A G intron_variant LUSC-KR 4 170184486 170184486 single base substitution T C intron_variant LUSC-KR 4 170187384 170187384 single base substitution G T downstream_gene_variant LUSC-KR 4 170187384 170187384 single base substitution G T intron_variant LUSC-KR 4 170190753 170190753 single base substitution A G intron_variant LUSC-KR 4 170190753 170190753 single base substitution A G upstream_gene_variant LUSC-KR 4 170192142 170192142 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 4 170192142 170192142 single base substitution T A upstream_gene_variant LUSC-KR 4 170194305 170194305 single base substitution T C upstream_gene_variant LUSC-US 4 170038713 170038713 single base substitution G T 3_prime_UTR_variant LUSC-US 4 170038713 170038713 single base substitution G T exon_variant LUSC-US 4 170038713 170038713 single base substitution G T missense_variant Q580K 1738C>A LUSC-US 4 170057544 170057544 single base substitution G A exon_variant LUSC-US 4 170057544 170057544 single base substitution G A synonymous_variant L331L 993C>T MALY-DE 4 170011189 170011189 single base substitution G A downstream_gene_variant MALY-DE 4 170013429 170013429 single base substitution C T downstream_gene_variant MALY-DE 4 170016180 170016180 single base substitution C T 3_prime_UTR_variant MALY-DE 4 170017101 170017101 single base substitution T C 3_prime_UTR_variant MALY-DE 4 170028789 170028789 single base substitution G A intron_variant MALY-DE 4 170034748 170034748 single base substitution G A downstream_gene_variant MALY-DE 4 170034748 170034748 single base substitution G A intron_variant MALY-DE 4 170035830 170035830 single base substitution T C downstream_gene_variant MALY-DE 4 170035830 170035830 single base substitution T C intron_variant MALY-DE 4 170047752 170047752 insertion of <=200bp - T intron_variant MALY-DE 4 170063909 170063909 single base substitution T A intron_variant MALY-DE 4 170065762 170065762 single base substitution C T intron_variant MALY-DE 4 170073175 170073175 single base substitution T C intron_variant MALY-DE 4 170076708 170076708 single base substitution T C exon_variant MALY-DE 4 170076708 170076708 single base substitution T C missense_variant I230V 688A>G MALY-DE 4 170082974 170082974 single base substitution A G intron_variant MALY-DE 4 170089112 170089112 single base substitution T C intron_variant MALY-DE 4 170094736 170094736 single base substitution A T intron_variant MALY-DE 4 170095227 170095227 single base substitution T C intron_variant MALY-DE 4 170099769 170099769 single base substitution C T intron_variant MALY-DE 4 170102544 170102544 single base substitution G C intron_variant MALY-DE 4 170103278 170103278 single base substitution A G intron_variant MALY-DE 4 170114649 170114649 single base substitution T C intron_variant MALY-DE 4 170133513 170133513 single base substitution A G intron_variant MALY-DE 4 170135623 170135623 single base substitution G A intron_variant MALY-DE 4 170136924 170136924 single base substitution T G intron_variant MALY-DE 4 170161347 170161347 insertion of <=200bp - T intron_variant MALY-DE 4 170176201 170176201 insertion of <=200bp - A intron_variant MALY-DE 4 170184707 170184707 single base substitution T C intron_variant MELA-AU 4 170011161 170011161 single base substitution C T downstream_gene_variant MELA-AU 4 170011264 170011264 single base substitution A T downstream_gene_variant MELA-AU 4 170011550 170011550 single base substitution G A downstream_gene_variant MELA-AU 4 170011809 170011809 single base substitution G A downstream_gene_variant MELA-AU 4 170011839 170011839 single base substitution G A downstream_gene_variant MELA-AU 4 170012070 170012070 single base substitution G A downstream_gene_variant MELA-AU 4 170012781 170012781 single base substitution G A downstream_gene_variant MELA-AU 4 170012792 170012792 single base substitution G C downstream_gene_variant MELA-AU 4 170013360 170013360 single base substitution G A downstream_gene_variant MELA-AU 4 170013477 170013477 single base substitution G C downstream_gene_variant MELA-AU 4 170014104 170014104 single base substitution G A downstream_gene_variant MELA-AU 4 170014145 170014145 single base substitution G A downstream_gene_variant MELA-AU 4 170014297 170014297 single base substitution C T downstream_gene_variant MELA-AU 4 170014594 170014594 single base substitution G A downstream_gene_variant MELA-AU 4 170014827 170014827 single base substitution G A downstream_gene_variant MELA-AU 4 170014866 170014866 single base substitution G A downstream_gene_variant MELA-AU 4 170014998 170014998 single base substitution G A downstream_gene_variant MELA-AU 4 170015635 170015635 single base substitution G A 3_prime_UTR_variant MELA-AU 4 170016173 170016173 single base substitution C T 3_prime_UTR_variant MELA-AU 4 170016570 170016570 single base substitution G A 3_prime_UTR_variant MELA-AU 4 170017005 170017005 single base substitution A T 3_prime_UTR_variant MELA-AU 4 170017403 170017403 single base substitution C T 3_prime_UTR_variant MELA-AU 4 170017696 170017696 single base substitution G A missense_variant P881S 2641C>T MELA-AU 4 170018177 170018177 single base substitution C A intron_variant MELA-AU 4 170018288 170018288 single base substitution G A intron_variant MELA-AU 4 170018416 170018416 single base substitution G A intron_variant MELA-AU 4 170018644 170018644 single base substitution A C intron_variant MELA-AU 4 170018806 170018806 single base substitution G A intron_variant MELA-AU 4 170019239 170019239 single base substitution G A intron_variant MELA-AU 4 170019322 170019322 single base substitution G A intron_variant MELA-AU 4 170019522 170019522 single base substitution G A intron_variant MELA-AU 4 170019934 170019934 single base substitution G A intron_variant MELA-AU 4 170020039 170020039 single base substitution A G intron_variant MELA-AU 4 170020336 170020336 single base substitution C T intron_variant MELA-AU 4 170020374 170020374 single base substitution G A intron_variant MELA-AU 4 170020643 170020643 single base substitution C T intron_variant MELA-AU 4 170020810 170020810 single base substitution G A intron_variant MELA-AU 4 170020811 170020811 single base substitution G A intron_variant MELA-AU 4 170021303 170021303 single base substitution T C intron_variant MELA-AU 4 170021353 170021353 single base substitution G A intron_variant MELA-AU 4 170021512 170021512 single base substitution G A intron_variant MELA-AU 4 170021927 170021927 single base substitution C A intron_variant MELA-AU 4 170022068 170022068 single base substitution C T intron_variant MELA-AU 4 170022136 170022136 single base substitution A T intron_variant MELA-AU 4 170022556 170022556 single base substitution G A intron_variant MELA-AU 4 170023860 170023860 single base substitution G A intron_variant MELA-AU 4 170024432 170024432 single base substitution G A intron_variant MELA-AU 4 170024948 170024948 single base substitution A T intron_variant MELA-AU 4 170025441 170025441 single base substitution C A intron_variant MELA-AU 4 170025619 170025619 single base substitution G A intron_variant MELA-AU 4 170026896 170026896 single base substitution G A intron_variant MELA-AU 4 170027675 170027675 single base substitution G A intron_variant MELA-AU 4 170027774 170027774 single base substitution G A intron_variant MELA-AU 4 170027817 170027817 single base substitution G A intron_variant MELA-AU 4 170027984 170027984 single base substitution G A intron_variant MELA-AU 4 170028181 170028181 single base substitution G T missense_variant S772Y 2315C>A MELA-AU 4 170028286 170028286 single base substitution G A missense_variant P737L 2210C>T MELA-AU 4 170028288 170028288 single base substitution A G synonymous_variant P736P 2208T>C MELA-AU 4 170028760 170028760 single base substitution G A intron_variant MELA-AU 4 170029033 170029033 single base substitution A G intron_variant MELA-AU 4 170029599 170029599 single base substitution G A intron_variant MELA-AU 4 170030027 170030027 single base substitution G A intron_variant MELA-AU 4 170030083 170030083 single base substitution G A intron_variant MELA-AU 4 170030263 170030263 single base substitution C T intron_variant MELA-AU 4 170030920 170030920 single base substitution G A intron_variant MELA-AU 4 170031645 170031645 single base substitution G C intron_variant MELA-AU 4 170031652 170031652 single base substitution G A intron_variant MELA-AU 4 170031837 170031837 single base substitution G A intron_variant MELA-AU 4 170032056 170032056 single base substitution G A intron_variant MELA-AU 4 170032228 170032228 single base substitution G T intron_variant MELA-AU 4 170033007 170033007 single base substitution G A downstream_gene_variant MELA-AU 4 170033007 170033007 single base substitution G A intron_variant MELA-AU 4 170033299 170033299 single base substitution G A downstream_gene_variant MELA-AU 4 170033299 170033299 single base substitution G A intron_variant MELA-AU 4 170033312 170033312 single base substitution C T downstream_gene_variant MELA-AU 4 170033312 170033312 single base substitution C T intron_variant MELA-AU 4 170033504 170033504 single base substitution G A downstream_gene_variant MELA-AU 4 170033504 170033504 single base substitution G A intron_variant MELA-AU 4 170034118 170034118 single base substitution G A downstream_gene_variant MELA-AU 4 170034118 170034118 single base substitution G A intron_variant MELA-AU 4 170035582 170035582 single base substitution A T downstream_gene_variant MELA-AU 4 170035582 170035582 single base substitution A T intron_variant MELA-AU 4 170036059 170036059 single base substitution C T downstream_gene_variant MELA-AU 4 170036059 170036059 single base substitution C T intron_variant MELA-AU 4 170037799 170037799 single base substitution G A intron_variant MELA-AU 4 170037910 170037910 single base substitution G A intron_variant MELA-AU 4 170038154 170038154 single base substitution G A intron_variant MELA-AU 4 170038974 170038974 single base substitution G A intron_variant MELA-AU 4 170039072 170039072 single base substitution T C intron_variant MELA-AU 4 170039464 170039464 single base substitution G A intron_variant MELA-AU 4 170039823 170039823 single base substitution G A intron_variant MELA-AU 4 170042632 170042632 single base substitution G A intron_variant MELA-AU 4 170043567 170043567 single base substitution C T intron_variant MELA-AU 4 170046076 170046076 single base substitution A T intron_variant MELA-AU 4 170046436 170046436 single base substitution G A intron_variant MELA-AU 4 170046948 170046948 single base substitution G A intron_variant MELA-AU 4 170047025 170047025 single base substitution G A intron_variant MELA-AU 4 170047829 170047829 single base substitution G T intron_variant MELA-AU 4 170048511 170048511 single base substitution C T intron_variant MELA-AU 4 170049579 170049579 single base substitution G A intron_variant MELA-AU 4 170049736 170049736 single base substitution C T intron_variant MELA-AU 4 170050330 170050331 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 170051737 170051737 single base substitution G A intron_variant MELA-AU 4 170053049 170053049 single base substitution G A intron_variant MELA-AU 4 170053152 170053152 single base substitution C T intron_variant MELA-AU 4 170054109 170054109 single base substitution C T intron_variant MELA-AU 4 170054308 170054308 single base substitution G A intron_variant MELA-AU 4 170054360 170054360 single base substitution T C intron_variant MELA-AU 4 170054517 170054517 single base substitution T C intron_variant MELA-AU 4 170057488 170057488 single base substitution G A exon_variant MELA-AU 4 170057488 170057488 single base substitution G A missense_variant S350F 1049C>T MELA-AU 4 170057622 170057622 single base substitution G A exon_variant MELA-AU 4 170057622 170057622 single base substitution G A synonymous_variant F305F 915C>T MELA-AU 4 170057990 170057992 deletion of <=200bp TCC - intron_variant MELA-AU 4 170058204 170058204 single base substitution G A intron_variant MELA-AU 4 170058697 170058697 deletion of <=200bp A - intron_variant MELA-AU 4 170058703 170058703 single base substitution T G intron_variant MELA-AU 4 170059176 170059176 single base substitution G A intron_variant MELA-AU 4 170060452 170060452 single base substitution G C intron_variant MELA-AU 4 170060498 170060498 single base substitution A C intron_variant MELA-AU 4 170061670 170061670 single base substitution C T intron_variant MELA-AU 4 170061994 170061994 single base substitution G T intron_variant MELA-AU 4 170062244 170062244 single base substitution G A intron_variant MELA-AU 4 170062335 170062335 single base substitution G A intron_variant MELA-AU 4 170062628 170062628 single base substitution C T intron_variant MELA-AU 4 170063251 170063251 single base substitution G A intron_variant MELA-AU 4 170063297 170063297 single base substitution G A intron_variant MELA-AU 4 170064341 170064341 single base substitution G A intron_variant MELA-AU 4 170064379 170064379 deletion of <=200bp A - intron_variant MELA-AU 4 170065676 170065676 single base substitution G A intron_variant MELA-AU 4 170066106 170066106 single base substitution G A intron_variant MELA-AU 4 170066157 170066157 single base substitution G A intron_variant MELA-AU 4 170066163 170066163 single base substitution G A intron_variant MELA-AU 4 170066356 170066356 single base substitution G A intron_variant MELA-AU 4 170066519 170066519 single base substitution T C intron_variant MELA-AU 4 170066826 170066826 single base substitution C T intron_variant MELA-AU 4 170067221 170067221 single base substitution A G intron_variant MELA-AU 4 170068139 170068139 single base substitution A T intron_variant MELA-AU 4 170068843 170068843 single base substitution G A intron_variant MELA-AU 4 170068885 170068886 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 170069438 170069438 single base substitution G A intron_variant MELA-AU 4 170069597 170069597 single base substitution A T intron_variant MELA-AU 4 170069621 170069621 single base substitution G A intron_variant MELA-AU 4 170069664 170069664 single base substitution G A intron_variant MELA-AU 4 170069867 170069867 single base substitution G A intron_variant MELA-AU 4 170069942 170069942 single base substitution G A intron_variant MELA-AU 4 170071473 170071473 single base substitution G A intron_variant MELA-AU 4 170071847 170071847 single base substitution G A intron_variant MELA-AU 4 170072026 170072026 single base substitution G A intron_variant MELA-AU 4 170072422 170072422 single base substitution G A intron_variant MELA-AU 4 170073748 170073748 single base substitution C G intron_variant MELA-AU 4 170075578 170075578 single base substitution A C intron_variant MELA-AU 4 170075735 170075735 single base substitution G A intron_variant MELA-AU 4 170075809 170075809 single base substitution A G intron_variant MELA-AU 4 170077246 170077246 single base substitution T A intron_variant MELA-AU 4 170077291 170077291 single base substitution G A intron_variant MELA-AU 4 170077338 170077338 single base substitution G A intron_variant MELA-AU 4 170077757 170077757 single base substitution C T exon_variant MELA-AU 4 170077757 170077757 single base substitution C T missense_variant S156N 467G>A MELA-AU 4 170077849 170077849 single base substitution G A intron_variant MELA-AU 4 170077849 170077849 single base substitution G A upstream_gene_variant MELA-AU 4 170078303 170078303 single base substitution G A intron_variant MELA-AU 4 170078303 170078303 single base substitution G A upstream_gene_variant MELA-AU 4 170078418 170078418 single base substitution G A intron_variant MELA-AU 4 170078418 170078418 single base substitution G A upstream_gene_variant MELA-AU 4 170078471 170078471 single base substitution C T intron_variant MELA-AU 4 170078471 170078471 single base substitution C T upstream_gene_variant MELA-AU 4 170079128 170079128 single base substitution G A intron_variant MELA-AU 4 170079128 170079128 single base substitution G A upstream_gene_variant MELA-AU 4 170079260 170079260 single base substitution T C intron_variant MELA-AU 4 170079260 170079260 single base substitution T C upstream_gene_variant MELA-AU 4 170079266 170079266 single base substitution G A intron_variant MELA-AU 4 170079266 170079266 single base substitution G A upstream_gene_variant MELA-AU 4 170079641 170079641 single base substitution G A intron_variant MELA-AU 4 170079641 170079641 single base substitution G A upstream_gene_variant MELA-AU 4 170081668 170081668 single base substitution C T intron_variant MELA-AU 4 170081668 170081668 single base substitution C T upstream_gene_variant MELA-AU 4 170082717 170082717 single base substitution A G intron_variant MELA-AU 4 170082717 170082717 single base substitution A G upstream_gene_variant MELA-AU 4 170082803 170082803 single base substitution G A intron_variant MELA-AU 4 170082803 170082803 single base substitution G A upstream_gene_variant MELA-AU 4 170083427 170083427 single base substitution C T intron_variant MELA-AU 4 170083492 170083493 multiple base substitution (>=2bp and <=200bp) TG AA intron_variant MELA-AU 4 170084099 170084099 single base substitution C T intron_variant MELA-AU 4 170084258 170084258 single base substitution A C intron_variant MELA-AU 4 170084731 170084731 single base substitution G A intron_variant MELA-AU 4 170085612 170085612 single base substitution T C intron_variant MELA-AU 4 170085861 170085861 single base substitution G A intron_variant MELA-AU 4 170086413 170086413 single base substitution G A intron_variant MELA-AU 4 170086656 170086656 single base substitution A G intron_variant MELA-AU 4 170086973 170086974 multiple base substitution (>=2bp and <=200bp) AC GT intron_variant MELA-AU 4 170087201 170087201 single base substitution G A intron_variant MELA-AU 4 170087316 170087316 single base substitution G A intron_variant MELA-AU 4 170087540 170087540 single base substitution G A intron_variant MELA-AU 4 170087674 170087674 single base substitution G A intron_variant MELA-AU 4 170087723 170087723 single base substitution G A intron_variant MELA-AU 4 170088268 170088268 single base substitution A T intron_variant MELA-AU 4 170089371 170089371 single base substitution G A intron_variant MELA-AU 4 170089758 170089758 single base substitution C T intron_variant MELA-AU 4 170090341 170090341 single base substitution G A intron_variant MELA-AU 4 170091595 170091595 single base substitution G A intron_variant MELA-AU 4 170091969 170091969 single base substitution C T intron_variant MELA-AU 4 170092178 170092178 single base substitution C T intron_variant MELA-AU 4 170092975 170092975 single base substitution G A intron_variant MELA-AU 4 170093506 170093506 single base substitution G A intron_variant MELA-AU 4 170093768 170093768 single base substitution G T intron_variant MELA-AU 4 170095484 170095484 single base substitution G A intron_variant MELA-AU 4 170095921 170095921 single base substitution A G intron_variant MELA-AU 4 170095956 170095956 single base substitution G A intron_variant MELA-AU 4 170095967 170095967 single base substitution G A intron_variant MELA-AU 4 170096843 170096843 single base substitution A G intron_variant MELA-AU 4 170097202 170097202 single base substitution G A intron_variant MELA-AU 4 170097621 170097621 single base substitution A C intron_variant MELA-AU 4 170100112 170100112 single base substitution G A intron_variant MELA-AU 4 170101672 170101672 single base substitution G A intron_variant MELA-AU 4 170102189 170102189 single base substitution G A intron_variant MELA-AU 4 170102604 170102604 single base substitution G A intron_variant MELA-AU 4 170102920 170102920 single base substitution G A intron_variant MELA-AU 4 170103195 170103195 single base substitution G A intron_variant MELA-AU 4 170104934 170104934 single base substitution A T intron_variant MELA-AU 4 170105354 170105354 single base substitution G A intron_variant MELA-AU 4 170106517 170106517 single base substitution G A intron_variant MELA-AU 4 170106829 170106829 single base substitution G A intron_variant MELA-AU 4 170106945 170106946 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 170108084 170108084 single base substitution G A intron_variant MELA-AU 4 170109788 170109788 single base substitution A T intron_variant MELA-AU 4 170109984 170109985 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 170111262 170111262 single base substitution A G intron_variant MELA-AU 4 170111851 170111851 single base substitution G A intron_variant MELA-AU 4 170113922 170113922 insertion of <=200bp - AT intron_variant MELA-AU 4 170114072 170114072 insertion of <=200bp - AT intron_variant MELA-AU 4 170114489 170114489 single base substitution C A intron_variant MELA-AU 4 170114725 170114725 single base substitution A T intron_variant MELA-AU 4 170115024 170115024 single base substitution G A intron_variant MELA-AU 4 170115424 170115424 single base substitution G A intron_variant MELA-AU 4 170116462 170116462 single base substitution G A intron_variant MELA-AU 4 170116903 170116903 single base substitution G A intron_variant MELA-AU 4 170117682 170117682 single base substitution G A intron_variant MELA-AU 4 170117773 170117773 single base substitution G A intron_variant MELA-AU 4 170119967 170119967 single base substitution G A intron_variant MELA-AU 4 170120146 170120146 single base substitution G A intron_variant MELA-AU 4 170120284 170120284 single base substitution G A intron_variant MELA-AU 4 170120670 170120670 single base substitution G A intron_variant MELA-AU 4 170120753 170120753 single base substitution G A intron_variant MELA-AU 4 170120763 170120763 single base substitution T C intron_variant MELA-AU 4 170121017 170121017 single base substitution C A intron_variant MELA-AU 4 170121215 170121215 single base substitution G A intron_variant MELA-AU 4 170121240 170121240 single base substitution G A intron_variant MELA-AU 4 170121963 170121963 single base substitution C T intron_variant MELA-AU 4 170122052 170122052 single base substitution C T intron_variant MELA-AU 4 170122528 170122528 single base substitution G A intron_variant MELA-AU 4 170123974 170123974 single base substitution A T intron_variant MELA-AU 4 170124724 170124724 single base substitution G A intron_variant MELA-AU 4 170124954 170124954 single base substitution G A intron_variant MELA-AU 4 170125820 170125820 single base substitution G A intron_variant MELA-AU 4 170125864 170125864 single base substitution G A intron_variant MELA-AU 4 170126170 170126170 single base substitution G A intron_variant MELA-AU 4 170126282 170126283 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 4 170126810 170126810 single base substitution G A intron_variant MELA-AU 4 170128575 170128575 single base substitution C A intron_variant MELA-AU 4 170132011 170132011 single base substitution A G intron_variant MELA-AU 4 170133121 170133121 single base substitution T A intron_variant MELA-AU 4 170133587 170133587 single base substitution G A intron_variant MELA-AU 4 170133953 170133953 single base substitution G A intron_variant MELA-AU 4 170134096 170134096 single base substitution G A intron_variant MELA-AU 4 170134266 170134266 single base substitution T C intron_variant MELA-AU 4 170134546 170134546 single base substitution A C intron_variant MELA-AU 4 170135520 170135520 single base substitution G A intron_variant MELA-AU 4 170135668 170135668 single base substitution G A intron_variant MELA-AU 4 170136240 170136240 single base substitution G A intron_variant MELA-AU 4 170136241 170136241 single base substitution G A intron_variant MELA-AU 4 170136425 170136425 single base substitution G A intron_variant MELA-AU 4 170136446 170136446 single base substitution G A intron_variant MELA-AU 4 170136841 170136841 single base substitution C T intron_variant MELA-AU 4 170137443 170137443 single base substitution G A intron_variant MELA-AU 4 170138839 170138839 single base substitution G A intron_variant MELA-AU 4 170138845 170138845 single base substitution G A intron_variant MELA-AU 4 170140164 170140164 single base substitution A T intron_variant MELA-AU 4 170141563 170141563 single base substitution G A intron_variant MELA-AU 4 170141801 170141801 single base substitution G A intron_variant MELA-AU 4 170142486 170142486 single base substitution C T intron_variant MELA-AU 4 170143175 170143175 single base substitution A T intron_variant MELA-AU 4 170143177 170143177 single base substitution C T intron_variant MELA-AU 4 170143717 170143717 single base substitution G A intron_variant MELA-AU 4 170144017 170144017 single base substitution C A intron_variant MELA-AU 4 170144325 170144325 single base substitution G A intron_variant MELA-AU 4 170144558 170144558 single base substitution G A intron_variant MELA-AU 4 170144598 170144598 single base substitution G A intron_variant MELA-AU 4 170144769 170144769 single base substitution C T intron_variant MELA-AU 4 170145023 170145023 single base substitution G A intron_variant MELA-AU 4 170145230 170145230 single base substitution G A intron_variant MELA-AU 4 170146173 170146173 single base substitution G A intron_variant MELA-AU 4 170146327 170146327 single base substitution G A intron_variant MELA-AU 4 170146364 170146364 single base substitution G A intron_variant MELA-AU 4 170146692 170146692 single base substitution G T intron_variant MELA-AU 4 170147970 170147970 single base substitution G A intron_variant MELA-AU 4 170148209 170148209 single base substitution C T intron_variant MELA-AU 4 170148383 170148383 single base substitution G A intron_variant MELA-AU 4 170148493 170148493 single base substitution C T intron_variant MELA-AU 4 170148907 170148907 single base substitution C T intron_variant MELA-AU 4 170149071 170149071 single base substitution G A intron_variant MELA-AU 4 170149488 170149488 single base substitution G A intron_variant MELA-AU 4 170149862 170149862 single base substitution G A intron_variant MELA-AU 4 170149892 170149892 single base substitution A G intron_variant MELA-AU 4 170150339 170150339 single base substitution G A intron_variant MELA-AU 4 170150536 170150536 single base substitution T G intron_variant MELA-AU 4 170150628 170150628 single base substitution A G intron_variant MELA-AU 4 170150799 170150799 single base substitution G A intron_variant MELA-AU 4 170151890 170151890 single base substitution G A intron_variant MELA-AU 4 170151990 170151990 single base substitution G A intron_variant MELA-AU 4 170152239 170152239 single base substitution G A intron_variant MELA-AU 4 170152727 170152727 single base substitution T A intron_variant MELA-AU 4 170152823 170152823 single base substitution G A intron_variant MELA-AU 4 170153179 170153179 single base substitution G A intron_variant MELA-AU 4 170153746 170153746 single base substitution C T intron_variant MELA-AU 4 170155008 170155008 single base substitution G A intron_variant MELA-AU 4 170157359 170157359 single base substitution G A intron_variant MELA-AU 4 170157585 170157585 single base substitution C T intron_variant MELA-AU 4 170157695 170157695 single base substitution A G intron_variant MELA-AU 4 170157751 170157751 single base substitution C T intron_variant MELA-AU 4 170158551 170158551 single base substitution G A intron_variant MELA-AU 4 170158557 170158557 single base substitution G A intron_variant MELA-AU 4 170159440 170159440 single base substitution A G intron_variant MELA-AU 4 170159474 170159474 single base substitution G A intron_variant MELA-AU 4 170160134 170160134 single base substitution C T intron_variant MELA-AU 4 170160145 170160145 single base substitution C T intron_variant MELA-AU 4 170160327 170160327 single base substitution C A intron_variant MELA-AU 4 170161539 170161539 single base substitution G A intron_variant MELA-AU 4 170161591 170161591 single base substitution G A intron_variant MELA-AU 4 170162179 170162179 single base substitution A G intron_variant MELA-AU 4 170163172 170163172 single base substitution G A intron_variant MELA-AU 4 170163339 170163339 single base substitution G A intron_variant MELA-AU 4 170164113 170164113 single base substitution G A intron_variant MELA-AU 4 170165248 170165248 single base substitution C T intron_variant MELA-AU 4 170166009 170166009 single base substitution G A intron_variant MELA-AU 4 170166418 170166418 single base substitution G T intron_variant MELA-AU 4 170166863 170166863 single base substitution C T intron_variant MELA-AU 4 170167471 170167471 single base substitution T G intron_variant MELA-AU 4 170167746 170167746 single base substitution T C intron_variant MELA-AU 4 170167860 170167860 single base substitution G A intron_variant MELA-AU 4 170168128 170168128 single base substitution G A intron_variant MELA-AU 4 170168313 170168313 single base substitution G A intron_variant MELA-AU 4 170168368 170168368 single base substitution G A intron_variant MELA-AU 4 170169032 170169032 single base substitution C T intron_variant MELA-AU 4 170169933 170169933 single base substitution G A intron_variant MELA-AU 4 170170031 170170031 single base substitution C T intron_variant MELA-AU 4 170170174 170170174 single base substitution C T intron_variant MELA-AU 4 170173095 170173095 single base substitution C T intron_variant MELA-AU 4 170174640 170174641 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 170174796 170174796 single base substitution C T intron_variant MELA-AU 4 170175014 170175014 single base substitution G A intron_variant MELA-AU 4 170175968 170175968 single base substitution G A intron_variant MELA-AU 4 170176108 170176108 single base substitution G A intron_variant MELA-AU 4 170176117 170176118 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 4 170176714 170176714 single base substitution G A intron_variant MELA-AU 4 170177275 170177275 single base substitution G A intron_variant MELA-AU 4 170177419 170177419 single base substitution G A intron_variant MELA-AU 4 170177445 170177445 single base substitution G A intron_variant MELA-AU 4 170177663 170177663 single base substitution G A intron_variant MELA-AU 4 170177938 170177938 single base substitution G A intron_variant MELA-AU 4 170178116 170178116 single base substitution G A intron_variant MELA-AU 4 170179321 170179321 single base substitution C T intron_variant MELA-AU 4 170179425 170179425 single base substitution G A intron_variant MELA-AU 4 170179791 170179791 single base substitution G A intron_variant MELA-AU 4 170179890 170179890 single base substitution G A intron_variant MELA-AU 4 170181238 170181238 single base substitution G A intron_variant MELA-AU 4 170181250 170181250 single base substitution G T intron_variant MELA-AU 4 170181474 170181474 single base substitution G A intron_variant MELA-AU 4 170181614 170181614 single base substitution A C intron_variant MELA-AU 4 170181724 170181724 single base substitution G A intron_variant MELA-AU 4 170182098 170182098 single base substitution C T intron_variant MELA-AU 4 170182220 170182220 single base substitution G A intron_variant MELA-AU 4 170182508 170182508 single base substitution G A intron_variant MELA-AU 4 170183345 170183345 single base substitution G A intron_variant MELA-AU 4 170184289 170184289 single base substitution G C intron_variant MELA-AU 4 170184865 170184865 single base substitution C T intron_variant MELA-AU 4 170185839 170185839 single base substitution G A downstream_gene_variant MELA-AU 4 170185839 170185839 single base substitution G A intron_variant MELA-AU 4 170186187 170186187 single base substitution C T downstream_gene_variant MELA-AU 4 170186187 170186187 single base substitution C T intron_variant MELA-AU 4 170186301 170186301 single base substitution G A downstream_gene_variant MELA-AU 4 170186301 170186301 single base substitution G A intron_variant MELA-AU 4 170186673 170186673 single base substitution G A downstream_gene_variant MELA-AU 4 170186673 170186673 single base substitution G A intron_variant MELA-AU 4 170188085 170188085 single base substitution C T downstream_gene_variant MELA-AU 4 170188085 170188085 single base substitution C T intron_variant MELA-AU 4 170188214 170188214 single base substitution G A downstream_gene_variant MELA-AU 4 170188214 170188214 single base substitution G A intron_variant MELA-AU 4 170188611 170188611 single base substitution C T downstream_gene_variant MELA-AU 4 170188611 170188611 single base substitution C T intron_variant MELA-AU 4 170189614 170189614 single base substitution T C downstream_gene_variant MELA-AU 4 170189614 170189614 single base substitution T C intron_variant MELA-AU 4 170191489 170191489 single base substitution C T intron_variant MELA-AU 4 170191489 170191489 single base substitution C T upstream_gene_variant MELA-AU 4 170192207 170192207 single base substitution G A 5_prime_UTR_variant MELA-AU 4 170192207 170192207 single base substitution G A upstream_gene_variant MELA-AU 4 170192221 170192221 single base substitution G A 5_prime_UTR_variant MELA-AU 4 170192221 170192221 single base substitution G A upstream_gene_variant MELA-AU 4 170192633 170192634 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 170192640 170192640 single base substitution C T upstream_gene_variant MELA-AU 4 170192982 170192982 single base substitution G A upstream_gene_variant MELA-AU 4 170195042 170195042 single base substitution G A upstream_gene_variant MELA-AU 4 170195194 170195194 single base substitution G A upstream_gene_variant MELA-AU 4 170195473 170195473 single base substitution G A upstream_gene_variant MELA-AU 4 170195632 170195632 single base substitution C T upstream_gene_variant MELA-AU 4 170195638 170195638 single base substitution C T upstream_gene_variant MELA-AU 4 170195781 170195781 single base substitution C T upstream_gene_variant MELA-AU 4 170196136 170196136 single base substitution G A upstream_gene_variant MELA-AU 4 170196273 170196273 single base substitution C T upstream_gene_variant MELA-AU 4 170197104 170197104 single base substitution G A upstream_gene_variant MELA-AU 4 170197211 170197211 single base substitution G A upstream_gene_variant ORCA-IN 4 170013980 170013980 single base substitution A G downstream_gene_variant ORCA-IN 4 170037276 170037276 single base substitution T A downstream_gene_variant ORCA-IN 4 170037276 170037276 single base substitution T A intron_variant ORCA-IN 4 170053973 170053973 single base substitution G T intron_variant ORCA-IN 4 170059168 170059168 single base substitution C T intron_variant ORCA-IN 4 170062082 170062082 single base substitution G T intron_variant ORCA-IN 4 170092074 170092074 single base substitution A T intron_variant ORCA-IN 4 170093936 170093936 single base substitution G A intron_variant ORCA-IN 4 170108668 170108677 deletion of <=200bp TGTGTGTGTG - intron_variant ORCA-IN 4 170112711 170112711 single base substitution G A intron_variant ORCA-IN 4 170114993 170114993 single base substitution C T intron_variant ORCA-IN 4 170165577 170165577 single base substitution G A intron_variant OV-AU 4 170013299 170013299 single base substitution C A downstream_gene_variant OV-AU 4 170015686 170015686 single base substitution G A 3_prime_UTR_variant OV-AU 4 170018428 170018428 single base substitution C T intron_variant OV-AU 4 170019916 170019916 single base substitution T C intron_variant OV-AU 4 170020422 170020422 single base substitution T G intron_variant OV-AU 4 170024581 170024581 single base substitution G C intron_variant OV-AU 4 170037027 170037027 single base substitution G C downstream_gene_variant OV-AU 4 170037027 170037027 single base substitution G C intron_variant OV-AU 4 170043547 170043547 single base substitution G C intron_variant OV-AU 4 170047244 170047244 single base substitution A C intron_variant OV-AU 4 170052513 170052513 single base substitution C G intron_variant OV-AU 4 170067245 170067245 single base substitution C A intron_variant OV-AU 4 170067257 170067257 single base substitution T C intron_variant OV-AU 4 170067282 170067282 single base substitution T A intron_variant OV-AU 4 170067749 170067749 single base substitution A G intron_variant OV-AU 4 170071738 170071738 single base substitution T A intron_variant OV-AU 4 170071739 170071739 single base substitution C A intron_variant OV-AU 4 170072788 170072788 single base substitution T G intron_variant OV-AU 4 170074178 170074178 single base substitution C A intron_variant OV-AU 4 170076301 170076301 single base substitution G C intron_variant OV-AU 4 170082707 170082707 single base substitution T A intron_variant OV-AU 4 170082707 170082707 single base substitution T A upstream_gene_variant OV-AU 4 170083403 170083403 single base substitution C G intron_variant OV-AU 4 170084487 170084487 single base substitution A G intron_variant OV-AU 4 170092698 170092698 single base substitution A G intron_variant OV-AU 4 170100360 170100360 single base substitution A G intron_variant OV-AU 4 170109638 170109638 single base substitution T C intron_variant OV-AU 4 170110085 170110085 single base substitution G C intron_variant OV-AU 4 170110173 170110173 single base substitution T G intron_variant OV-AU 4 170119193 170119193 single base substitution C G intron_variant OV-AU 4 170126082 170126082 single base substitution T G intron_variant OV-AU 4 170139616 170139616 single base substitution A G intron_variant OV-AU 4 170142598 170142598 single base substitution G C intron_variant OV-AU 4 170143589 170143589 single base substitution C G intron_variant OV-AU 4 170150402 170150402 single base substitution G C intron_variant OV-AU 4 170154211 170154211 single base substitution C T intron_variant OV-AU 4 170158975 170158975 single base substitution C G intron_variant OV-AU 4 170162241 170162241 single base substitution C T intron_variant OV-AU 4 170163278 170163278 single base substitution T A intron_variant OV-AU 4 170163821 170163821 single base substitution G T intron_variant OV-AU 4 170163859 170163859 single base substitution T C intron_variant OV-AU 4 170177259 170177259 single base substitution T C intron_variant OV-AU 4 170180994 170180994 single base substitution C T intron_variant OV-AU 4 170183049 170183049 single base substitution C T intron_variant OV-AU 4 170184268 170184268 single base substitution C T intron_variant OV-AU 4 170184907 170184907 single base substitution C G intron_variant PACA-AU 4 170011205 170011205 single base substitution A G downstream_gene_variant PACA-AU 4 170017371 170017371 single base substitution C T 3_prime_UTR_variant PACA-AU 4 170023789 170023789 single base substitution C T intron_variant PACA-AU 4 170027254 170027254 single base substitution T C intron_variant PACA-AU 4 170029602 170029602 single base substitution G A intron_variant PACA-AU 4 170034272 170034272 single base substitution T C downstream_gene_variant PACA-AU 4 170034272 170034272 single base substitution T C intron_variant PACA-AU 4 170034716 170034716 single base substitution A T downstream_gene_variant PACA-AU 4 170034716 170034716 single base substitution A T intron_variant PACA-AU 4 170035029 170035029 deletion of <=200bp G - downstream_gene_variant PACA-AU 4 170035029 170035029 deletion of <=200bp G - intron_variant PACA-AU 4 170037220 170037220 single base substitution C G downstream_gene_variant PACA-AU 4 170037220 170037220 single base substitution C G intron_variant PACA-AU 4 170037299 170037299 single base substitution G A downstream_gene_variant PACA-AU 4 170037299 170037299 single base substitution G A intron_variant PACA-AU 4 170040252 170040255 deletion of <=200bp AGAT - intron_variant PACA-AU 4 170047913 170047913 single base substitution T A intron_variant PACA-AU 4 170049514 170049514 single base substitution T C intron_variant PACA-AU 4 170050550 170050550 single base substitution C T intron_variant PACA-AU 4 170054763 170054763 deletion of <=200bp T - intron_variant PACA-AU 4 170055502 170055502 single base substitution T C intron_variant PACA-AU 4 170058650 170058650 single base substitution T C intron_variant PACA-AU 4 170063850 170063850 single base substitution A C intron_variant PACA-AU 4 170066634 170066634 single base substitution T C intron_variant PACA-AU 4 170069721 170069721 single base substitution C A intron_variant PACA-AU 4 170073371 170073371 single base substitution A C intron_variant PACA-AU 4 170087545 170087545 single base substitution C G intron_variant PACA-AU 4 170093276 170093276 single base substitution A C intron_variant PACA-AU 4 170093629 170093629 single base substitution A T intron_variant PACA-AU 4 170095031 170095031 single base substitution C A intron_variant PACA-AU 4 170096702 170096702 single base substitution C A intron_variant PACA-AU 4 170099423 170099423 single base substitution A T intron_variant PACA-AU 4 170101959 170101959 single base substitution A C intron_variant PACA-AU 4 170109380 170109380 single base substitution C T intron_variant PACA-AU 4 170113947 170113947 single base substitution T A intron_variant PACA-AU 4 170115263 170115263 single base substitution C G intron_variant PACA-AU 4 170120166 170120182 deletion of <=200bp AGGTCTGAGTTGTAAGA - intron_variant PACA-AU 4 170120773 170120773 single base substitution A T intron_variant PACA-AU 4 170125973 170125973 single base substitution T C intron_variant PACA-AU 4 170128344 170128344 single base substitution A C intron_variant PACA-AU 4 170133867 170133867 single base substitution A G intron_variant PACA-AU 4 170135541 170135541 deletion of <=200bp T - intron_variant PACA-AU 4 170136720 170136720 deletion of <=200bp G - intron_variant PACA-AU 4 170145952 170145952 single base substitution C T intron_variant PACA-AU 4 170155597 170155597 single base substitution A G intron_variant PACA-AU 4 170156493 170156493 single base substitution A G intron_variant PACA-AU 4 170163890 170163890 single base substitution G A intron_variant PACA-AU 4 170165051 170165051 single base substitution T C intron_variant PACA-AU 4 170168748 170168748 single base substitution G A intron_variant PACA-AU 4 170171492 170171492 single base substitution A T intron_variant PACA-AU 4 170176515 170176515 deletion of <=200bp T - intron_variant PACA-AU 4 170195355 170195355 single base substitution G A upstream_gene_variant PACA-CA 4 170015937 170015937 deletion of <=200bp A - 3_prime_UTR_variant PACA-CA 4 170017640 170017640 single base substitution T C 3_prime_UTR_variant PACA-CA 4 170017913 170017913 single base substitution C T intron_variant PACA-CA 4 170018447 170018447 single base substitution T C intron_variant PACA-CA 4 170022254 170022254 single base substitution T A intron_variant PACA-CA 4 170022878 170022878 single base substitution T C intron_variant PACA-CA 4 170023557 170023557 single base substitution T C intron_variant PACA-CA 4 170024550 170024550 single base substitution A G intron_variant PACA-CA 4 170025330 170025330 single base substitution C G intron_variant PACA-CA 4 170025483 170025483 single base substitution A G intron_variant PACA-CA 4 170027147 170027147 insertion of <=200bp - T intron_variant PACA-CA 4 170032029 170032029 single base substitution A T intron_variant PACA-CA 4 170039787 170039787 single base substitution T C intron_variant PACA-CA 4 170042741 170042741 single base substitution G T intron_variant PACA-CA 4 170044849 170044849 single base substitution T C intron_variant PACA-CA 4 170047751 170047751 insertion of <=200bp - T intron_variant PACA-CA 4 170056993 170056993 single base substitution T G intron_variant PACA-CA 4 170058519 170058519 single base substitution C T intron_variant PACA-CA 4 170059252 170059252 single base substitution G A intron_variant PACA-CA 4 170066429 170066429 single base substitution T G intron_variant PACA-CA 4 170067762 170067762 single base substitution C T intron_variant PACA-CA 4 170069574 170069574 single base substitution C T intron_variant PACA-CA 4 170071074 170071074 single base substitution C A intron_variant PACA-CA 4 170071106 170071106 single base substitution C G intron_variant PACA-CA 4 170077575 170077583 deletion of <=200bp CTTTGTCTG - disruptive_inframe_deletion ADKD214D PACA-CA 4 170077575 170077583 deletion of <=200bp CTTTGTCTG - exon_variant PACA-CA 4 170078758 170078758 single base substitution C T intron_variant PACA-CA 4 170078758 170078758 single base substitution C T upstream_gene_variant PACA-CA 4 170079940 170079940 single base substitution A G intron_variant PACA-CA 4 170079940 170079940 single base substitution A G upstream_gene_variant PACA-CA 4 170084653 170084653 single base substitution G T intron_variant PACA-CA 4 170088737 170088737 single base substitution C A intron_variant PACA-CA 4 170089507 170089507 single base substitution C G intron_variant PACA-CA 4 170091967 170091967 single base substitution G A intron_variant PACA-CA 4 170096371 170096371 single base substitution C T intron_variant PACA-CA 4 170100610 170100610 single base substitution G A intron_variant PACA-CA 4 170102867 170102867 single base substitution T C intron_variant PACA-CA 4 170103841 170103841 single base substitution C G intron_variant PACA-CA 4 170107670 170107670 single base substitution C G intron_variant PACA-CA 4 170109243 170109243 single base substitution G A intron_variant PACA-CA 4 170113909 170113909 single base substitution A G intron_variant PACA-CA 4 170114031 170114031 single base substitution T G intron_variant PACA-CA 4 170122696 170122696 single base substitution T G intron_variant PACA-CA 4 170128532 170128532 single base substitution C T intron_variant PACA-CA 4 170128893 170128893 single base substitution T G intron_variant PACA-CA 4 170128896 170128896 single base substitution G T intron_variant PACA-CA 4 170128952 170128952 single base substitution C A intron_variant PACA-CA 4 170129471 170129471 single base substitution A G intron_variant PACA-CA 4 170135782 170135790 deletion of <=200bp TTGCATGTT - intron_variant PACA-CA 4 170137008 170137008 single base substitution G A intron_variant PACA-CA 4 170139146 170139146 single base substitution G A intron_variant PACA-CA 4 170139526 170139541 deletion of <=200bp TATAGAATATATATAT - intron_variant PACA-CA 4 170143662 170143662 insertion of <=200bp - TA intron_variant PACA-CA 4 170144673 170144673 single base substitution C T intron_variant PACA-CA 4 170147351 170147351 single base substitution G C intron_variant PACA-CA 4 170149169 170149169 single base substitution C A intron_variant PACA-CA 4 170157370 170157370 single base substitution C A intron_variant PACA-CA 4 170157756 170157756 single base substitution T C intron_variant PACA-CA 4 170162401 170162401 single base substitution C T intron_variant PACA-CA 4 170163456 170163456 single base substitution C T intron_variant PACA-CA 4 170173468 170173468 single base substitution T C intron_variant PACA-CA 4 170173801 170173801 deletion of <=200bp T - intron_variant PACA-CA 4 170175152 170175152 single base substitution C G intron_variant PACA-CA 4 170176040 170176040 single base substitution G T intron_variant PACA-CA 4 170182710 170182710 single base substitution A G intron_variant PACA-CA 4 170183647 170183647 single base substitution A G intron_variant PACA-CA 4 170185284 170185284 single base substitution G C downstream_gene_variant PACA-CA 4 170185284 170185284 single base substitution G C intron_variant PACA-CA 4 170186217 170186217 single base substitution C A downstream_gene_variant PACA-CA 4 170186217 170186217 single base substitution C A intron_variant PACA-CA 4 170191781 170191781 single base substitution G A intron_variant PACA-CA 4 170191781 170191781 single base substitution G A upstream_gene_variant PACA-CA 4 170191958 170191958 single base substitution G C 5_prime_UTR_variant PACA-CA 4 170191958 170191958 single base substitution G C intron_variant PACA-CA 4 170191958 170191958 single base substitution G C upstream_gene_variant PAEN-AU 4 170042592 170042592 single base substitution G C intron_variant PAEN-AU 4 170098295 170098295 single base substitution T C intron_variant PAEN-AU 4 170114254 170114254 single base substitution G T intron_variant PAEN-AU 4 170121710 170121710 single base substitution A T intron_variant PAEN-AU 4 170166230 170166230 single base substitution T C intron_variant PAEN-IT 4 170039195 170039195 single base substitution C A intron_variant PAEN-IT 4 170041412 170041412 single base substitution C A intron_variant PAEN-IT 4 170133214 170133214 single base substitution T C intron_variant PBCA-DE 4 170012662 170012662 single base substitution C T downstream_gene_variant PBCA-DE 4 170013488 170013488 insertion of <=200bp - T downstream_gene_variant PBCA-DE 4 170017983 170017983 single base substitution T A intron_variant PBCA-DE 4 170052538 170052538 deletion of <=200bp T - intron_variant PBCA-DE 4 170056259 170056259 single base substitution G A intron_variant PBCA-DE 4 170066989 170066989 insertion of <=200bp - TAA intron_variant PBCA-DE 4 170067003 170067005 deletion of <=200bp TTC - intron_variant PBCA-DE 4 170070289 170070289 single base substitution T G intron_variant PBCA-DE 4 170081566 170081566 single base substitution G A intron_variant PBCA-DE 4 170081566 170081566 single base substitution G A upstream_gene_variant PBCA-DE 4 170087470 170087470 single base substitution G A intron_variant PBCA-DE 4 170110550 170110550 single base substitution G T intron_variant PBCA-DE 4 170114582 170114582 single base substitution G T intron_variant PBCA-DE 4 170115237 170115237 insertion of <=200bp - T intron_variant PBCA-DE 4 170139466 170139466 single base substitution G T intron_variant PBCA-DE 4 170141604 170141604 single base substitution A G intron_variant PBCA-DE 4 170144747 170144747 single base substitution C G intron_variant PBCA-DE 4 170157421 170157421 single base substitution C T intron_variant PBCA-DE 4 170158236 170158238 deletion of <=200bp AGA - intron_variant PBCA-DE 4 170161166 170161166 insertion of <=200bp - CC intron_variant PBCA-DE 4 170161173 170161173 insertion of <=200bp - A intron_variant PBCA-DE 4 170162720 170162720 single base substitution T A intron_variant PBCA-DE 4 170171110 170171110 insertion of <=200bp - A intron_variant PBCA-DE 4 170179004 170179004 single base substitution C A intron_variant PBCA-DE 4 170183253 170183253 single base substitution T G intron_variant PBCA-DE 4 170184170 170184170 single base substitution G A intron_variant PBCA-DE 4 170194188 170194188 single base substitution A C upstream_gene_variant PRAD-CA 4 170032711 170032711 single base substitution C A downstream_gene_variant PRAD-CA 4 170032711 170032711 single base substitution C A intron_variant PRAD-CA 4 170060603 170060603 single base substitution A T intron_variant PRAD-CA 4 170101380 170101380 single base substitution T G intron_variant PRAD-CA 4 170129087 170129087 single base substitution G A intron_variant PRAD-CA 4 170137503 170137503 single base substitution T A intron_variant PRAD-CA 4 170145341 170145341 single base substitution A C intron_variant PRAD-UK 4 170026741 170026741 single base substitution C A intron_variant PRAD-UK 4 170033249 170033249 single base substitution C T downstream_gene_variant PRAD-UK 4 170033249 170033249 single base substitution C T intron_variant PRAD-UK 4 170036103 170036103 single base substitution G C downstream_gene_variant PRAD-UK 4 170036103 170036103 single base substitution G C intron_variant PRAD-UK 4 170040923 170040923 single base substitution A T intron_variant PRAD-UK 4 170051707 170051708 deletion of <=200bp CA - intron_variant PRAD-UK 4 170055231 170055231 single base substitution T G intron_variant PRAD-UK 4 170058725 170058725 single base substitution A T intron_variant PRAD-UK 4 170061245 170061245 single base substitution A C intron_variant PRAD-UK 4 170066703 170066703 single base substitution C T intron_variant PRAD-UK 4 170089512 170089512 insertion of <=200bp - A intron_variant PRAD-UK 4 170091276 170091276 single base substitution A C intron_variant PRAD-UK 4 170115638 170115638 single base substitution G A intron_variant PRAD-UK 4 170117889 170117889 single base substitution G A intron_variant PRAD-UK 4 170150784 170150784 single base substitution C A intron_variant PRAD-UK 4 170154804 170154804 single base substitution T C intron_variant PRAD-UK 4 170156565 170156565 single base substitution T G intron_variant PRAD-UK 4 170183093 170183093 single base substitution T C intron_variant PRAD-UK 4 170192340 170192340 single base substitution C A upstream_gene_variant PRAD-UK 4 170195143 170195143 single base substitution A T upstream_gene_variant READ-US 4 170051240 170051240 single base substitution G A exon_variant READ-US 4 170051240 170051240 single base substitution G A missense_variant S379L 1136C>T RECA-EU 4 170017157 170017157 single base substitution A T 3_prime_UTR_variant RECA-EU 4 170017306 170017306 single base substitution A T 3_prime_UTR_variant RECA-EU 4 170017313 170017313 single base substitution A G 3_prime_UTR_variant RECA-EU 4 170020970 170020970 single base substitution T A intron_variant RECA-EU 4 170025357 170025357 single base substitution A G intron_variant RECA-EU 4 170026658 170026658 single base substitution A T intron_variant RECA-EU 4 170027706 170027706 single base substitution A C intron_variant RECA-EU 4 170032915 170032915 single base substitution A C downstream_gene_variant RECA-EU 4 170032915 170032915 single base substitution A C intron_variant RECA-EU 4 170042932 170042932 single base substitution G A intron_variant RECA-EU 4 170054071 170054071 single base substitution G A intron_variant RECA-EU 4 170058849 170058849 single base substitution A T intron_variant RECA-EU 4 170061922 170061922 single base substitution G T intron_variant RECA-EU 4 170064934 170064934 single base substitution T C intron_variant RECA-EU 4 170070444 170070444 single base substitution T C intron_variant RECA-EU 4 170070547 170070547 single base substitution T C intron_variant RECA-EU 4 170071899 170071899 single base substitution T A intron_variant RECA-EU 4 170076267 170076267 single base substitution A C intron_variant RECA-EU 4 170077940 170077940 single base substitution A G intron_variant RECA-EU 4 170077940 170077940 single base substitution A G upstream_gene_variant RECA-EU 4 170090020 170090020 single base substitution A C intron_variant RECA-EU 4 170090150 170090150 single base substitution T A intron_variant RECA-EU 4 170090260 170090260 single base substitution C A intron_variant RECA-EU 4 170090413 170090413 single base substitution G A intron_variant RECA-EU 4 170092631 170092631 single base substitution A G intron_variant RECA-EU 4 170094971 170094971 single base substitution T A intron_variant RECA-EU 4 170096232 170096232 single base substitution A T intron_variant RECA-EU 4 170128674 170128674 single base substitution A G intron_variant RECA-EU 4 170133797 170133797 single base substitution C G intron_variant RECA-EU 4 170137061 170137061 single base substitution C G intron_variant RECA-EU 4 170141049 170141049 single base substitution T A intron_variant RECA-EU 4 170144276 170144276 single base substitution C T intron_variant RECA-EU 4 170146170 170146170 single base substitution A C intron_variant RECA-EU 4 170149508 170149508 single base substitution T A intron_variant RECA-EU 4 170150529 170150529 single base substitution T C intron_variant RECA-EU 4 170169219 170169219 single base substitution A T intron_variant RECA-EU 4 170176104 170176104 single base substitution T C intron_variant RECA-EU 4 170176329 170176329 single base substitution C T intron_variant RECA-EU 4 170178196 170178196 single base substitution A G intron_variant RECA-EU 4 170179198 170179198 single base substitution C A intron_variant RECA-EU 4 170181683 170181683 single base substitution G A intron_variant SKCA-BR 4 170014031 170014031 single base substitution G A downstream_gene_variant SKCA-BR 4 170015013 170015013 single base substitution G A downstream_gene_variant SKCA-BR 4 170021258 170021258 single base substitution G A intron_variant SKCA-BR 4 170028009 170028009 single base substitution G A synonymous_variant V829V 2487C>T SKCA-BR 4 170028435 170028435 single base substitution A C intron_variant SKCA-BR 4 170030799 170030799 single base substitution T A intron_variant SKCA-BR 4 170035638 170035638 single base substitution G A downstream_gene_variant SKCA-BR 4 170035638 170035638 single base substitution G A intron_variant SKCA-BR 4 170042371 170042371 single base substitution G A intron_variant SKCA-BR 4 170043358 170043358 single base substitution T G exon_variant SKCA-BR 4 170043358 170043358 single base substitution T G splice_region_variant SKCA-BR 4 170043358 170043358 single base substitution T G synonymous_variant T413T 1239A>C SKCA-BR 4 170043397 170043397 single base substitution T G exon_variant SKCA-BR 4 170043397 170043397 single base substitution T G intron_variant SKCA-BR 4 170043397 170043397 single base substitution T G synonymous_variant P400P 1200A>C SKCA-BR 4 170043834 170043834 single base substitution C A intron_variant SKCA-BR 4 170044835 170044835 single base substitution G A intron_variant SKCA-BR 4 170045042 170045042 insertion of <=200bp - CA intron_variant SKCA-BR 4 170056325 170056325 insertion of <=200bp - AAAACAAAC intron_variant SKCA-BR 4 170059207 170059207 single base substitution G A intron_variant SKCA-BR 4 170061494 170061494 single base substitution C T intron_variant SKCA-BR 4 170064538 170064538 single base substitution C T intron_variant SKCA-BR 4 170066610 170066610 single base substitution G A intron_variant SKCA-BR 4 170067093 170067096 deletion of <=200bp ATAT - intron_variant SKCA-BR 4 170067126 170067129 deletion of <=200bp ATAT - intron_variant SKCA-BR 4 170067176 170067179 deletion of <=200bp TTAC - intron_variant SKCA-BR 4 170067206 170067206 insertion of <=200bp - TATATTC intron_variant SKCA-BR 4 170067774 170067774 single base substitution G A intron_variant SKCA-BR 4 170067934 170067934 single base substitution G A intron_variant SKCA-BR 4 170072026 170072026 single base substitution G A intron_variant SKCA-BR 4 170073903 170073903 single base substitution G A intron_variant SKCA-BR 4 170078047 170078047 single base substitution A C intron_variant SKCA-BR 4 170078047 170078047 single base substitution A C upstream_gene_variant SKCA-BR 4 170080819 170080819 single base substitution C T intron_variant SKCA-BR 4 170080819 170080819 single base substitution C T upstream_gene_variant SKCA-BR 4 170083581 170083581 single base substitution G A intron_variant SKCA-BR 4 170086788 170086788 insertion of <=200bp - CG intron_variant SKCA-BR 4 170090948 170090948 single base substitution G A intron_variant SKCA-BR 4 170093506 170093506 single base substitution G A intron_variant SKCA-BR 4 170099379 170099379 single base substitution G C intron_variant SKCA-BR 4 170099550 170099550 single base substitution G A intron_variant SKCA-BR 4 170101410 170101410 single base substitution G A intron_variant SKCA-BR 4 170103879 170103879 single base substitution G A intron_variant SKCA-BR 4 170104092 170104092 single base substitution G A intron_variant SKCA-BR 4 170104176 170104176 single base substitution T G intron_variant SKCA-BR 4 170111752 170111752 single base substitution G A intron_variant SKCA-BR 4 170113992 170113992 insertion of <=200bp - GAT intron_variant SKCA-BR 4 170114300 170114300 single base substitution G A intron_variant SKCA-BR 4 170115014 170115014 single base substitution G A intron_variant SKCA-BR 4 170117746 170117746 single base substitution T C intron_variant SKCA-BR 4 170123759 170123759 single base substitution G A intron_variant SKCA-BR 4 170124954 170124954 single base substitution G A intron_variant SKCA-BR 4 170126161 170126161 single base substitution G A intron_variant SKCA-BR 4 170127361 170127361 single base substitution A G intron_variant SKCA-BR 4 170129300 170129300 insertion of <=200bp - GT intron_variant SKCA-BR 4 170130881 170130881 single base substitution A G intron_variant SKCA-BR 4 170132573 170132573 single base substitution T C intron_variant SKCA-BR 4 170137154 170137154 single base substitution C T intron_variant SKCA-BR 4 170138165 170138165 single base substitution C A intron_variant SKCA-BR 4 170145827 170145827 single base substitution G A intron_variant SKCA-BR 4 170148854 170148854 single base substitution G A intron_variant SKCA-BR 4 170148856 170148856 single base substitution A G intron_variant SKCA-BR 4 170151339 170151339 single base substitution G A intron_variant SKCA-BR 4 170153325 170153325 single base substitution G A intron_variant SKCA-BR 4 170153967 170153967 single base substitution A C intron_variant SKCA-BR 4 170156651 170156651 single base substitution G A intron_variant SKCA-BR 4 170158561 170158561 single base substitution G A intron_variant SKCA-BR 4 170160115 170160116 deletion of <=200bp GC - intron_variant SKCA-BR 4 170163795 170163795 single base substitution G A intron_variant SKCA-BR 4 170171667 170171667 single base substitution C A intron_variant SKCA-BR 4 170171668 170171668 single base substitution A T intron_variant SKCA-BR 4 170176690 170176690 single base substitution G C intron_variant SKCA-BR 4 170179302 170179302 single base substitution C T intron_variant SKCA-BR 4 170179791 170179791 single base substitution G A intron_variant SKCA-BR 4 170181477 170181477 single base substitution G A intron_variant SKCA-BR 4 170182755 170182755 insertion of <=200bp - CA intron_variant SKCA-BR 4 170185348 170185348 single base substitution C T downstream_gene_variant SKCA-BR 4 170185348 170185348 single base substitution C T intron_variant SKCA-BR 4 170185885 170185885 single base substitution C T downstream_gene_variant SKCA-BR 4 170185885 170185885 single base substitution C T intron_variant SKCA-BR 4 170192564 170192564 single base substitution G A upstream_gene_variant SKCA-BR 4 170193508 170193508 single base substitution G T upstream_gene_variant SKCA-BR 4 170195818 170195818 single base substitution A C upstream_gene_variant SKCA-BR 4 170195842 170195842 single base substitution A C upstream_gene_variant SKCM-US 4 170017731 170017731 single base substitution C T missense_variant G869D 2606G>A SKCM-US 4 170028035 170028035 single base substitution G A missense_variant P821S 2461C>T SKCM-US 4 170028067 170028067 single base substitution G A missense_variant P810L 2429C>T SKCM-US 4 170028093 170028093 single base substitution G A synonymous_variant S801S 2403C>T SKCM-US 4 170028123 170028123 single base substitution G A synonymous_variant A791A 2373C>T SKCM-US 4 170028181 170028181 single base substitution G A missense_variant S772F 2315C>T SKCM-US 4 170028273 170028273 single base substitution G A synonymous_variant T741T 2223C>T SKCM-US 4 170028308 170028308 single base substitution G A missense_variant R730W 2188C>T SKCM-US 4 170028325 170028325 single base substitution G A missense_variant S724F 2171C>T SKCM-US 4 170043353 170043353 single base substitution G A exon_variant SKCM-US 4 170043353 170043353 single base substitution G A missense_variant P415L 1244C>T SKCM-US 4 170043353 170043353 single base substitution G A splice_region_variant SKCM-US 4 170051274 170051274 single base substitution G A exon_variant SKCM-US 4 170051274 170051274 single base substitution G A missense_variant P368S 1102C>T SKCM-US 4 170077708 170077708 single base substitution G A exon_variant SKCM-US 4 170077708 170077708 single base substitution G A synonymous_variant Y172Y 516C>T SKCM-US 4 170077757 170077757 single base substitution C T exon_variant SKCM-US 4 170077757 170077757 single base substitution C T missense_variant S156N 467G>A STAD-US 4 170028302 170028302 single base substitution G A missense_variant P732S 2194C>T STAD-US 4 170037648 170037650 deletion of <=200bp CAT - 3_prime_UTR_variant STAD-US 4 170037648 170037650 deletion of <=200bp CAT - exon_variant STAD-US 4 170037648 170037650 deletion of <=200bp CAT - inframe_deletion M637 STAD-US 4 170038835 170038835 single base substitution G T 3_prime_UTR_variant STAD-US 4 170038835 170038835 single base substitution G T exon_variant STAD-US 4 170038835 170038835 single base substitution G T missense_variant P539H 1616C>A STAD-US 4 170038929 170038929 single base substitution C T 3_prime_UTR_variant STAD-US 4 170038929 170038929 single base substitution C T exon_variant STAD-US 4 170038929 170038929 single base substitution C T missense_variant V508M 1522G>A STAD-US 4 170041971 170041971 single base substitution T G splice_region_variant STAD-US 4 170043298 170043298 single base substitution T C exon_variant STAD-US 4 170043298 170043298 single base substitution T C synonymous_variant G433G 1299A>G STAD-US 4 170043340 170043340 single base substitution G A exon_variant STAD-US 4 170043340 170043340 single base substitution G A synonymous_variant A419A 1257C>T STAD-US 4 170057513 170057513 single base substitution G A exon_variant STAD-US 4 170057513 170057513 single base substitution G A missense_variant R342W 1024C>T STAD-US 4 170057551 170057551 deletion of <=200bp G - exon_variant STAD-US 4 170057551 170057551 deletion of <=200bp G - frameshift_variant P329 STAD-US 4 170057635 170057635 deletion of <=200bp T - exon_variant STAD-US 4 170057635 170057635 deletion of <=200bp T - frameshift_variant K301 STAD-US 4 170077617 170077617 single base substitution C A exon_variant STAD-US 4 170077617 170077617 single base substitution C A missense_variant A203S 607G>T STAD-US 4 170190147 170190147 single base substitution G T exon_variant STAD-US 4 170190147 170190147 single base substitution G T missense_variant L73M 217C>A THCA-SA 4 170015928 170015928 single base substitution T G 3_prime_UTR_variant UCEC-US 4 170017783 170017783 single base substitution C A stop_gained E852* 2554G>T UCEC-US 4 170028269 170028269 single base substitution C A stop_gained E743* 2227G>T UCEC-US 4 170038746 170038746 single base substitution G A 3_prime_UTR_variant UCEC-US 4 170038746 170038746 single base substitution G A exon_variant UCEC-US 4 170038746 170038746 single base substitution G A missense_variant P569S 1705C>T UCEC-US 4 170076716 170076716 single base substitution A C exon_variant UCEC-US 4 170076716 170076716 single base substitution A C missense_variant L227R 680T>G UCEC-US 4 170190013 170190013 single base substitution G A downstream_gene_variant UCEC-US 4 170190013 170190013 single base substitution G A exon_variant UCEC-US 4 170190013 170190013 single base substitution G A synonymous_variant G117G 351C>T UCEC-US 4 170190191 170190191 single base substitution G A exon_variant UCEC-US 4 170190191 170190191 single base substitution G A missense_variant S58L 173C>T UCEC-US 4 170190213 170190213 single base substitution C T exon_variant UCEC-US 4 170190213 170190213 single base substitution C T missense_variant E51K 151G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-HU-A4H4-01 COSM4123401 c.2194C>T p.P732S Substitution - Missense 4:169107151-169107151 - PASLZM COSM5006467 c.280A>G p.T94A Substitution - Missense 4:169268933-169268933 - YUKAT COSM5400849 c.23A>G p.D8G Substitution - Missense 4:169269190-169269190 - 86507 COSM95249 c.1319A>G p.H440R Substitution - Missense 4:169122127-169122127 - pfg127T COSM4748079 c.2197delC p.R733fs*10 Deletion - Frameshift 4:169107148-169107148 - TCGA-GU-A42R-01 COSM3775696 c.1548C>T p.V516V Substitution - coding silent 4:169117752-169117752 - B69 COSM254938 c.2617C>T p.R873C Substitution - Missense 4:169096569-169096569 - TCGA-GN-A263-01 COSM3601989 c.2429C>T p.P810L Substitution - Missense 4:169106916-169106916 - CN-AML-CR-58-Dx COSM5425243 c.1156G>A p.V386I Substitution - Missense 4:169130069-169130069 - HCC1008 COSM50525 c.1904C>T p.P635L Substitution - Missense 4:169116504-169116504 - TCGA-A6-5661-01 COSM1428509 c.757T>C p.Y253H Substitution - Missense 4:169155488-169155488 - B17-Tumor COSM253829 c.1325G>A p.R442Q Substitution - Missense 4:169122121-169122121 - TCGA-D9-A6EC-06 COSM4400180 c.2373C>T p.A791A Substitution - coding silent 4:169106972-169106972 - B89-4 COSM254939 c.78G>C p.L26F Substitution - Missense 4:169269135-169269135 - 49M COSM5593078 c.2453C>T p.S818F Substitution - Missense 4:169106892-169106892 - TCGA-HU-A4GQ-01 COSM4123404 c.1516A>C p.R506R Substitution - coding silent 4:169120820-169120820 - TCGA-AP-A051-01 COSM1053138 c.1705C>T p.P569S Substitution - Missense 4:169117595-169117595 - TCGA-J7-6720-01 COSM3993545 c.2158T>C p.L720L Substitution - coding silent 4:169107187-169107187 - T578 COSM3601992 c.2188C>T p.R730W Substitution - Missense 4:169107157-169107157 - T3021 COSM4725698 c.1271_1273delCTG p.A424delA Deletion - In frame 4:169122173-169122175 - TCGA-CZ-5464-01 COSM481053 c.2123C>G p.P708R Substitution - Missense 4:169116285-169116285 - ESCC_170 COSM5649504 c.1032C>T p.S344S Substitution - coding silent 4:169136354-169136354 - TCGA-AC-A62Y-01 COSM3825519 c.2529G>A p.Q843Q Substitution - coding silent 4:169096657-169096657 - TCGA-HT-7602-01 COSM3974809 c.1375C>T p.R459W Substitution - Missense 4:169120961-169120961 - TCGA-CC-A7IL-01 COSM4912073 c.505G>A p.E169K Substitution - Missense 4:169156568-169156568 - TCGA-BS-A0UF-01 COSM1053136 c.2554G>T p.E852* Substitution - Nonsense 4:169096632-169096632 - TCGA-CM-6674-01 COSM1428510 c.491G>A p.R164Q Substitution - Missense 4:169156582-169156582 - TCGA-BT-A3PH-01 COSM1309894 c.2469G>C p.L823F Substitution - Missense 4:169106876-169106876 - PD6722a COSM5778888 c.65C>A p.S22Y Substitution - Missense 4:169269148-169269148 - CHC892T COSM4797916 c.1650G>A p.G550G Substitution - coding silent 4:169117650-169117650 - LUAD-NYU1051S COSM368884 c.1776A>T p.T592T Substitution - coding silent 4:169117524-169117524 - TCGA-GV-A40E-01 COSM3775693 c.2527C>T p.Q843* Substitution - Nonsense 4:169096659-169096659 - CHLA-258 COSM4584917 c.1806G>A p.T602T Substitution - coding silent 4:169116602-169116602 - TCGA-BR-8487-01 COSM4123403 c.1522G>A p.V508M Substitution - Missense 4:169117778-169117778 - LUAD-S01331 COSM396559 c.1668C>T p.P556P Substitution - coding silent 4:169117632-169117632 - TCGA-HU-A4GU-01 COSM4123405 c.1299A>G p.G433G Substitution - coding silent 4:169122147-169122147 - TCGA-MY-A5BD-01 COSM4855494 c.2080G>A p.D694N Substitution - Missense 4:169116328-169116328 - TCGA-BR-7703-01 COSM4123407 c.1024C>T p.R342W Substitution - Missense 4:169136362-169136362 - ESO-175 COSM1265503 c.580T>C p.L194L Substitution - coding silent 4:169156493-169156493 - TCGA-DK-A2I6-01 COSM1309896 c.2315C>A p.S772Y Substitution - Missense 4:169107030-169107030 - TCGA-FW-A3R5-06 COSM3917451 c.2223C>T p.T741T Substitution - coding silent 4:169107122-169107122 - Au4 COSM5604857 c.915C>T p.F305F Substitution - coding silent 4:169136471-169136471 - I2L-P7-Tumor-Organoid COSM5356147 c.1355C>T p.A452V Substitution - Missense 4:169120981-169120981 - P03-1426 COSM247302 c.1316C>A p.A439E Substitution - Missense 4:169122130-169122130 - LC_C18 COSM1186699 c.1756G>T p.A586S Substitution - Missense 4:169117544-169117544 - PT50 COSM5937167 c.1655C>T p.P552L Substitution - Missense 4:169117645-169117645 - BZ19 COSM4725698 c.1271_1273delCTG p.A424delA Deletion - In frame 4:169122173-169122175 - HCC140T COSM5823196 c.1221C>T p.A407A Substitution - coding silent 4:169122225-169122225 - TCGA-D1-A17B-01 COSM1053144 c.41T>C p.V14A Substitution - Missense 4:169269172-169269172 - TCGA-AA-A010-01 COSM284965 c.772T>C p.S258P Substitution - Missense 4:169136614-169136614 - B89-4-Tumor COSM254939 c.78G>C p.L26F Substitution - Missense 4:169269135-169269135 - TCGA-BS-A0UF-01 COSM1053137 c.2227G>T p.E743* Substitution - Nonsense 4:169107118-169107118 - LUAD-NYU669 COSM375803 c.1989A>T p.P663P Substitution - coding silent 4:169116419-169116419 - TCGA-EE-A29E-06 COSM3601995 c.516C>T p.Y172Y Substitution - coding silent 4:169156557-169156557 - Hs-578-T COSM1671431 c.426A>T p.L142F Substitution - Missense 4:169156647-169156647 - TCGA-EE-A2GD-06 COSM3601988 c.2461C>T p.P821S Substitution - Missense 4:169106884-169106884 - TCGA-CZ-5456-01 COSM481054 c.62C>T p.A21V Substitution - Missense 4:169269151-169269151 - TCGA-FR-A3R1-01 COSM3601990 c.2403C>T p.S801S Substitution - coding silent 4:169106942-169106942 - TCGA-AG-A002-01 COSM263640 c.1576C>T p.R526W Substitution - Missense 4:169117724-169117724 - TCGA-G3-A5SK-01 COSM4927514 c.668A>C p.K223T Substitution - Missense 4:169156405-169156405 - TCGA-FS-A1Z3-06 COSM3917452 c.2171C>T p.S724F Substitution - Missense 4:169107174-169107174 - MO_1012 COSM5554653 c.439G>A p.G147R Substitution - Missense 4:169156634-169156634 - PTC-10C COSM149758 c.435T>C p.Y145Y Substitution - coding silent 4:169156638-169156638 - TCGA-39-5037-01 COSM733129 c.993C>T p.L331L Substitution - coding silent 4:169136393-169136393 - PA285 COSM1163359 c.2151G>A p.K717K Substitution - coding silent 4:169107194-169107194 - ATL052 COSM5709163 c.238C>T p.P80S Substitution - Missense 4:169268975-169268975 - pfg008T COSM1642442 c.1436A>C p.Q479P Substitution - Missense 4:169120900-169120900 - STC252 COSM5060235 c.52C>T p.R18C Substitution - Missense 4:169269161-169269161 - ESCC_16 COSM5625846 c.1523T>G p.V508G Substitution - Missense 4:169117777-169117777 - TCGA-GU-A42R-01 COSM3775695 c.1682C>T p.S561L Substitution - Missense 4:169117618-169117618 - 2521249 COSM5887869 c.1985C>T p.A662V Substitution - Missense 4:169116423-169116423 - T2944 COSM4725697 c.1914A>C p.P638P Substitution - coding silent 4:169116494-169116494 - YUPROST COSM1695253 c.2189G>A p.R730Q Substitution - Missense 4:169107156-169107156 - ESCC_65 COSM5633610 c.1046T>C p.L349P Substitution - Missense 4:169136340-169136340 - sysucc-1163T COSM3336324 c.6T>C p.D2D Substitution - coding silent 4:169269207-169269207 - TCGA-ER-A19E-06 COSM3601992 c.2188C>T p.R730W Substitution - Missense 4:169107157-169107157 - TCGA-BG-A0VZ-01 COSM1053141 c.351C>T p.G117G Substitution - coding silent 4:169268862-169268862 - GC8_T COSM149758 c.435T>C p.Y145Y Substitution - coding silent 4:169156638-169156638 - TCGA-AA-3517-01 COSM291664 c.2607C>A p.G869G Substitution - coding silent 4:169096579-169096579 - ME009T COSM222966 c.776C>T p.A259V Substitution - Missense 4:169136610-169136610 - T3724 COSM3336284 c.2150delA p.K717fs*4 Deletion - Frameshift 4:169107195-169107195 - SH-0622 COSM4725698 c.1271_1273delCTG p.A424delA Deletion - In frame 4:169122173-169122175 - Pat_02_B COSM4725698 c.1271_1273delCTG p.A424delA Deletion - In frame 4:169122173-169122175 - ATL074 COSM5709162 c.1925C>A p.T642K Substitution - Missense 4:169116483-169116483 - CSCC-60-T COSM4457901 c.1064C>T p.S355F Substitution - Missense 4:169136322-169136322 - Pat_04_A COSM5866057 c.773C>T p.S258L Substitution - Missense 4:169136613-169136613 - HN_62432 COSM121836 c.1389A>G p.E463E Substitution - coding silent 4:169120947-169120947 - YUBER COSM1053138 c.1705C>T p.P569S Substitution - Missense 4:169117595-169117595 - 169 COSM3728876 c.2140-5delT p.? Unknown 4:169107210-169107210 - TCGA-HT-7689-01 COSM3974810 c.1271C>T p.A424V Substitution - Missense 4:169122175-169122175 - Hs-578-T COSM1671430 c.430A>G p.N144D Substitution - Missense 4:169156643-169156643 - TCGA-B5-A11Y-01 COSM1053142 c.173C>T p.S58L Substitution - Missense 4:169269040-169269040 - 2P3 COSM3733663 c.1554G>T p.M518I Substitution - Missense 4:169117746-169117746 - TCGA-F5-6814-01 COSM3428328 c.1136C>T p.S379L Substitution - Missense 4:169130089-169130089 - Pat_41_B COSM5866056 c.1445G>A p.W482* Substitution - Nonsense 4:169120891-169120891 - TCGA-AS-3778-01 COSM1495725 c.454G>C p.D152H Substitution - Missense 4:169156619-169156619 - TCGA-AD-6889-01 COSM1428508 c.906G>A p.R302R Substitution - coding silent 4:169136480-169136480 - B34-Tumor COSM254937 c.2632G>T p.G878C Substitution - Missense 4:169096554-169096554 - TCGA-BH-A1F8-01 COSM1485831 c.852C>T p.A284A Substitution - coding silent 4:169136534-169136534 - TCGA-AO-A128-01 COSM3825521 c.1762A>G p.N588D Substitution - Missense 4:169117538-169117538 - YUHEF COSM1695254 c.842C>T p.S281L Substitution - Missense 4:169136544-169136544 - BCM723T COSM4956653 c.1275A>G p.G425G Substitution - coding silent 4:169122171-169122171 - ME050T COSM230558 c.2033_2034CC>TT p.P678>? Complex 4:169116374-169116375 - TCGA-EB-A3Y6-01 COSM3601993 c.1244C>T p.P415L Substitution - Missense 4:169122202-169122202 - SNUH_G76_S1 COSM4418243 c.435T>A p.Y145* Substitution - Nonsense 4:169156638-169156638 - KM12 COSM3336314 c.904C>T p.R302W Substitution - Missense 4:169136482-169136482 - 10T COSM3733543 c.2481_2483delACC p.R827_P828>S Complex - deletion inframe 4:169106862-169106864 - B34 COSM254937 c.2632G>T p.G878C Substitution - Missense 4:169096554-169096554 - TCGA-GU-A42R-01 COSM3775694 c.1706C>G p.P569R Substitution - Missense 4:169117594-169117594 - Pat_26_B COSM4725698 c.1271_1273delCTG p.A424delA Deletion - In frame 4:169122173-169122175 - 92 COSM5014465 c.125G>T p.G42V Substitution - Missense 4:169269088-169269088 - TCGA-EK-A3GJ-01 COSM4852344 c.1569G>C p.Q523H Substitution - Missense 4:169117731-169117731 - TCGA-BS-A0UV-01 COSM1053143 c.151G>A p.E51K Substitution - Missense 4:169269062-169269062 - B17 COSM253829 c.1325G>A p.R442Q Substitution - Missense 4:169122121-169122121 - SNU-175 COSM3336299 c.1453G>T p.G485W Substitution - Missense 4:169120883-169120883 - PR-09-2517 COSM247301 c.1033G>A p.E345K Substitution - Missense 4:169136353-169136353 - CHC892T COSM4797916 c.1650G>A p.G550G Substitution - coding silent 4:169117650-169117650 - LUAD-RT-S01709 COSM379970 c.220G>T p.D74Y Substitution - Missense 4:169268993-169268993 - 107384 COSM95250 c.326C>T p.S109L Substitution - Missense 4:169268887-169268887 - TCGA-EE-A29P-06 COSM3601991 c.2315C>T p.S772F Substitution - Missense 4:169107030-169107030 - TCGA-D5-6927-01 COSM1428507 c.1867C>T p.L623L Substitution - coding silent 4:169116541-169116541 - CSCC-35-T COSM4481852 c.254C>T p.P85L Substitution - Missense 4:169268959-169268959 - C91 COSM4444959 c.1147C>T p.P383S Substitution - Missense 4:169130078-169130078 - S01542 COSM5669699 c.353G>T p.G118V Substitution - Missense 4:169268860-169268860 - 19 COSM5746378 c.2426C>G p.A809G Substitution - Missense 4:169106919-169106919 - TCGA-DA-A1HY-06 COSM3601994 c.1102C>T p.P368S Substitution - Missense 4:169130123-169130123 - ME024T COSM226119 c.673G>A p.D225N Substitution - Missense 4:169155572-169155572 - B89-4 COSM254939 c.78G>C p.L26F Substitution - Missense 4:169269135-169269135 - TCGA-BR-4370-01 COSM4123406 c.1257C>T p.A419A Substitution - coding silent 4:169122189-169122189 - TCGA-BR-8078-01 COSM4123408 c.607G>T p.A203S Substitution - Missense 4:169156466-169156466 - 3N46-VS-3T46 COSM4982532 c.586C>T p.Q196* Substitution - Nonsense 4:169156487-169156487 - PT49 COSM5934918 c.2254C>T p.P752S Substitution - Missense 4:169107091-169107091 - BCM723T COSM4956653 c.1275A>G p.G425G Substitution - coding silent 4:169122171-169122171 - SJHGG010325 COSM4970048 c.2494G>A p.E832K Substitution - Missense 4:169106851-169106851 - LUAD-S01345 COSM397262 c.1770G>A p.V590V Substitution - coding silent 4:169117530-169117530 - TCGA-BH-A0B6-01 COSM3825520 c.1815G>A p.V605V Substitution - coding silent 4:169116593-169116593 - B34 COSM254937 c.2632G>T p.G878C Substitution - Missense 4:169096554-169096554 - pfg008T COSM1642442 c.1436A>C p.Q479P Substitution - Missense 4:169120900-169120900 - HCT8 COSM3336304 c.1260T>C p.A420A Substitution - coding silent 4:169122186-169122186 - BD236T COSM5518558 c.2T>C p.M1T Substitution - Missense 4:169269211-169269211 - pfg068T COSM4763522 c.532G>T p.G178* Substitution - Nonsense 4:169156541-169156541 - TCGA-HU-8602-01 COSM4123402 c.1616C>A p.P539H Substitution - Missense 4:169117684-169117684 - TCGA-B5-A11E-01 COSM1053139 c.680T>G p.L227R Substitution - Missense 4:169155565-169155565 - PDA_074 COSM5001936 c.1987C>T p.P663S Substitution - Missense 4:169116421-169116421 - T6 COSM5344673 c.1918T>C p.S640P Substitution - Missense 4:169116490-169116490 - TCGA-DK-A2I6-01 COSM1309895 c.2419C>T p.P807S Substitution - Missense 4:169106926-169106926 - S02299 COSM5690707 c.718G>A p.G240R Substitution - Missense 4:169155527-169155527 - TCGA-66-2786-01 COSM733132 c.1738C>A p.Q580K Substitution - Missense 4:169117562-169117562 - TCGA-EE-A2MS-06 COSM3601987 c.2606G>A p.G869D Substitution - Missense 4:169096580-169096580 - TCGA-G4-6302-01 COSM3696527 c.994A>G p.I332V Substitution - Missense 4:169136392-169136392 - TCGA-BR-4370-01 COSM4123410 c.217C>A p.L73M Substitution - Missense 4:169268996-169268996 - TCGA-12-5299-01 COSM3409164 c.103C>G p.R35G Substitution - Missense 4:169269110-169269110 - PD9001a COSM5772485 c.1328C>T p.P443L Substitution - Missense 4:169122118-169122118 - TCGA-EE-A3AA-06 COSM3601996 c.467G>A p.S156N Substitution - Missense 4:169156606-169156606 - CHEWS033 COSM3336289 c.1805C>T p.T602M Substitution - Missense 4:169116603-169116603 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.301804 4q32.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - AAAC IntronicInsertion . c.394-11540_394-11539insGTTT 4 170089369 CM ACAAAGCT - Frameshift p.S883Gfs*18 c.2647_2654delAGCTTTGT 4 170017683 LGG A G Synonymous p.A420A c.1260T>C 4 170043337 GBM A G Synonymous p.L194L c.580T>C 4 170077644 ESCA C A IntronicSNV . c.2499-2160G>T 4 170019998 CLL C G Missense p.L26F c.78G>C 4 170190286 CLL C G Missense p.L823F c.2469G>C 4 170028027 BLCA C G Missense p.Q843H c.2529G>C 4 170017808 LUAD C G Missense p.W866S c.2597G>C 4 170017740 LUAD C T 3-UTRSNV . c.2664+11G>A 4 170017662 CM C T Missense p.D225N c.673G>A 4 170076723 CM C T Missense p.E345K c.1033G>A 4 170057504 BRCA C T Missense p.G118E c.353G>A 4 170190011 CM C T Missense p.G174R c.520G>A 4 170077704 LUAD C T Missense p.G764R c.2290G>A 4 170028206 HNSC C T Missense p.G869D c.2606G>A 4 170017731 CM C T Missense p.S156N c.467G>A 4 170077757 CM G A IntronicSNV . c.393+23099C>T 4 170166872 CLL G A IntronicSNV . c.394-9640C>T 4 170087470 MB G A Missense p.A21V c.62C>T 4 170190302 RCCC G A Missense p.A259V c.776C>T 4 170057761 CM G A Missense p.A424V c.1271C>T 4 170043326 LGG G A Missense p.P220L c.659C>T 4 170077565 MM G A Missense p.P368S c.1102C>T 4 170051274 CM G A Missense p.P807S c.2419C>T 4 170028077 BLCA G A Missense p.P810L c.2429C>T 4 170028067 CM G A Missense p.P821S c.2461C>T 4 170028035 CM G A Missense p.R459W c.1375C>T 4 170042112 LGG G A Missense p.R730W c.2188C>T 4 170028308 CM G A Missense p.S58L c.173C>T 4 170190191 UCEC G A Missense p.S724F c.2171C>T 4 170028325 CM G A Missense p.S772F c.2315C>T 4 170028181 CM G A Synonymous p.A284A c.852C>T 4 170057685 BRCA G A Synonymous p.A419A c.1257C>T 4 170043340 STAD G A Synonymous p.G117G c.351C>T 4 170190013 UCEC G A Synonymous p.L331L c.993C>T 4 170057544 LUSC G A Synonymous p.S323S c.969C>T 4 170057568 CM G A Synonymous p.T185T c.555C>T 4 170077669 CM G C Missense p.R35G c.103C>G 4 170190261 GBM GG AA Missense p.P678L c.2033_2034delinsTT 4 170037525 CM GG AA Missense p.P881S c.2640_2641delinsTT 4 170017696 CM G T Missense p.L73M c.217C>A 4 170190147 STAD G T Missense p.Q580K c.1738C>A 4 170038713 LUSC G T Missense p.S772Y c.2315C>A 4 170028181 BLCA G T Synonymous p.G869G c.2607C>A 4 170017730 COREAD T C IntronicSNV . c.2499-2213A>G 4 170020051 CLL T C IntronicSNV . c.2499-2276A>G 4 170020114 CLL T C IntronicSNV . c.393+16667A>G 4 170173304 CLL T C IntronicSNV . c.393+46669A>G 4 170143302 PIA T C Missense p.I888V c.2662A>G 4 170017675 HNSC T C Synonymous p.E463E c.1389A>G 4 170042098 HNSC T G Missense p.Q479P c.1436A>C 4 170042051 STAD - T IntronicInsertion . c.2139+17_2139+18insA 4 170037402 STAD