Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 17 56435785 56435785 + Missense_Mutation SNP C C T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr17:56435785C>T c.1352G>A c.(1351-1353)tGc>tAc p.C451Y BLCA 17 56435956 56435956 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 g.chr17:56435956G>A c.1181C>T c.(1180-1182)gCa>gTa p.A394V BLCA 17 56437549 56437549 + Missense_Mutation SNP G G T TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr17:56437549G>T c.913C>A c.(913-915)Cag>Aag p.Q305K BLCA 17 56438251 56438251 + Missense_Mutation SNP A A G TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 g.chr17:56438251A>G c.742T>C c.(742-744)Tac>Cac p.Y248H BLCA 17 56492721 56492721 + Missense_Mutation SNP G G A TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 g.chr17:56492721G>A c.218C>T c.(217-219)gCt>gTt p.A73V BRCA 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs BRCA 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs BRCA 17 56435317 56435317 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr17:56435317G>A c.1820C>T c.(1819-1821)tCg>tTg p.S607L BRCA 17 56448375 56448375 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr17:56448375C>T c.272G>A c.(271-273)tGc>tAc p.C91Y BRCA 17 56492758 56492758 + Missense_Mutation SNP G G T TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr17:56492758G>T c.181C>A c.(181-183)Ctg>Atg p.L61M CESC 17 56435253 56435253 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 g.chr17:56435253G>A c.1884C>T c.(1882-1884)gaC>gaT p.D628D CESC 17 56435412 56435412 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr17:56435412G>A c.1725C>T c.(1723-1725)gtC>gtT p.V575V COAD 17 56434883 56434883 + Missense_Mutation SNP C C T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr17:56434883C>T c.2254G>A c.(2254-2256)Gca>Aca p.A752T COAD 17 56435047 56435047 + Missense_Mutation SNP T T C TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr17:56435047T>C c.2090A>G c.(2089-2091)cAc>cGc p.H697R COAD 17 56435072 56435072 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr17:56435072C>T c.2065G>A c.(2065-2067)Gca>Aca p.A689T COAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COAD 17 56435161 56435162 + Frame_Shift_Del DEL CC CC - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr17:56435161_56435162delCC c.1975_1976delGG c.(1975-1977)ggtfs p.G659fs COAD 17 56435167 56435167 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr17:56435167C>T c.1970G>A c.(1969-1971)cGg>cAg p.R657Q COAD 17 56435179 56435179 + Missense_Mutation SNP T T C TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr17:56435179T>C c.1958A>G c.(1957-1959)cAg>cGg p.Q653R COAD 17 56435252 56435252 + Frame_Shift_Del DEL C C - TCGA-A6-2671-01A-01D-1408-10 TCGA-A6-2671-10A-01D-1408-10 g.chr17:56435252delC c.1885delG c.(1885-1887)gccfs p.A629fs COAD 17 56435431 56435431 + Missense_Mutation SNP G G T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr17:56435431G>T c.1706C>A c.(1705-1707)cCt>cAt p.P569H COAD 17 56435552 56435552 + Missense_Mutation SNP G G A TCGA-AA-A00K-01A-02W-A005-10 TCGA-AA-A00K-10A-01W-A005-10 g.chr17:56435552G>A c.1585C>T c.(1585-1587)Cgg>Tgg p.R529W COAD 17 56435653 56435653 + Missense_Mutation SNP G G T TCGA-AA-A01I-01A-02W-A00E-09 TCGA-AA-A01I-10A-01W-A00E-09 g.chr17:56435653G>T c.1484C>A c.(1483-1485)tCt>tAt p.S495Y COAD 17 56435815 56435816 + Frame_Shift_Ins INS - - T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr17:56435815_56435816insT c.1321_1322insA c.(1321-1323)cctfs p.P441fs COAD 17 56435827 56435827 + Missense_Mutation SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr17:56435827C>T c.1310G>A c.(1309-1311)cGg>cAg p.R437Q COAD 17 56435861 56435861 + Nonsense_Mutation SNP G G A TCGA-A6-6649-01A-11D-1771-10 TCGA-A6-6649-10A-01D-1771-10 g.chr17:56435861G>A c.1276C>T c.(1276-1278)Cag>Tag p.Q426* COAD 17 56436150 56436150 + Silent SNP A A T TCGA-AA-3956-01A-02W-0995-10 TCGA-AA-3956-10A-01W-0995-10 g.chr17:56436150A>T c.987T>A c.(985-987)tcT>tcA p.S329S COAD 17 56437565 56437566 + Frame_Shift_Del DEL CA CA - TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr17:56437565_56437566delCA c.896_897delTG c.(895-897)gtgfs p.V299fs COAD 17 56437579 56437579 + Frame_Shift_Del DEL G G - TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr17:56437579delG c.883delC c.(883-885)catfs p.H295fs COAD 17 56437605 56437605 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr17:56437605C>T c.857G>A c.(856-858)cGg>cAg p.R286Q COAD 17 56438159 56438161 + In_Frame_Del DEL CTC CTC - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr17:56438159_56438161delCTC c.832_834delGAG c.(832-834)gagdel p.E278del COAD 17 56439945 56439945 + Missense_Mutation SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr17:56439945G>A c.647C>T c.(646-648)tCg>tTg p.S216L COAD 17 56439945 56439945 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:56439945G>A c.647C>T c.(646-648)tCg>tTg p.S216L COAD 17 56440904 56440904 + Nonsense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr17:56440904G>A c.433C>T c.(433-435)Cga>Tga p.R145* COAD 17 56448272 56448272 + Splice_Site SNP C C A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr17:56448272C>A c.375G>T c.(373-375)aaG>aaT p.K125N COAD 17 56448292 56448293 + Frame_Shift_Ins INS - - G TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr17:56448292_56448293insG c.354_355insC c.(352-357)ccctgcfs p.C119fs COAD 17 56448294 56448294 + Missense_Mutation SNP G G T TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr17:56448294G>T c.353C>A c.(352-354)cCc>cAc p.P118H COAD 17 56448297 56448297 + Frame_Shift_Del DEL C C - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr17:56448297delC c.350delG c.(349-351)cgcfs p.R117fs COAD 17 56448298 56448298 + Frame_Shift_Del DEL G G - TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr17:56448298delG c.349delC c.(349-351)cgcfs p.R117fs COAD 17 56448298 56448298 + Frame_Shift_Del DEL G G - TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr17:56448298delG c.349delC c.(349-351)cgcfs p.R117fs COAD 17 56448298 56448298 + Frame_Shift_Del DEL G G - TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr17:56448298delG c.349delC c.(349-351)cgcfs p.R117fs COAD 17 56448298 56448298 + Frame_Shift_Del DEL G G - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr17:56448298delG c.349delC c.(349-351)cgcfs p.R117fs COAD 17 56492691 56492691 + Missense_Mutation SNP A A G TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr17:56492691A>G c.248T>C c.(247-249)aTg>aCg p.M83T COAD 17 56492796 56492796 + Missense_Mutation SNP A A G TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr17:56492796A>G c.143T>C c.(142-144)aTc>aCc p.I48T COAD 17 56492891 56492891 + Frame_Shift_Del DEL C C - TCGA-CA-5796-01A-01D-1650-10 TCGA-CA-5796-10A-01D-1650-10 g.chr17:56492891delC c.48delG c.(46-48)ctgfs p.L17fs COADREAD 17 56434883 56434883 + Missense_Mutation SNP C C T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr17:56434883C>T c.2254G>A c.(2254-2256)Gca>Aca p.A752T COADREAD 17 56435047 56435047 + Missense_Mutation SNP T T C TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr17:56435047T>C c.2090A>G c.(2089-2091)cAc>cGc p.H697R COADREAD 17 56435072 56435072 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr17:56435072C>T c.2065G>A c.(2065-2067)Gca>Aca p.A689T COADREAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COADREAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COADREAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COADREAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COADREAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COADREAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COADREAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COADREAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COADREAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COADREAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COADREAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COADREAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COADREAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COADREAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COADREAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COADREAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COADREAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COADREAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COADREAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COADREAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COADREAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COADREAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COADREAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COADREAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs COADREAD 17 56435161 56435162 + Frame_Shift_Del DEL CC CC - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr17:56435161_56435162delCC c.1975_1976delGG c.(1975-1977)ggtfs p.G659fs COADREAD 17 56435167 56435167 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr17:56435167C>T c.1970G>A c.(1969-1971)cGg>cAg p.R657Q COADREAD 17 56435179 56435179 + Missense_Mutation SNP T T C TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr17:56435179T>C c.1958A>G c.(1957-1959)cAg>cGg p.Q653R COADREAD 17 56435252 56435252 + Frame_Shift_Del DEL C C - TCGA-A6-2671-01A-01D-1408-10 TCGA-A6-2671-10A-01D-1408-10 g.chr17:56435252delC c.1885delG c.(1885-1887)gccfs p.A629fs COADREAD 17 56435431 56435431 + Missense_Mutation SNP G G T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr17:56435431G>T c.1706C>A c.(1705-1707)cCt>cAt p.P569H COADREAD 17 56435547 56435547 + Silent SNP A A G TCGA-AG-3600-01A-01W-0833-10 TCGA-AG-3600-10A-01W-0833-10 g.chr17:56435547A>G c.1590T>C c.(1588-1590)ccT>ccC p.P530P COADREAD 17 56435552 56435552 + Missense_Mutation SNP G G A TCGA-AA-A00K-01A-02W-A005-10 TCGA-AA-A00K-10A-01W-A005-10 g.chr17:56435552G>A c.1585C>T c.(1585-1587)Cgg>Tgg p.R529W COADREAD 17 56435653 56435653 + Missense_Mutation SNP G G T TCGA-AA-A01I-01A-02W-A00E-09 TCGA-AA-A01I-10A-01W-A00E-09 g.chr17:56435653G>T c.1484C>A c.(1483-1485)tCt>tAt p.S495Y COADREAD 17 56435815 56435816 + Frame_Shift_Ins INS - - T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr17:56435815_56435816insT c.1321_1322insA c.(1321-1323)cctfs p.P441fs COADREAD 17 56435827 56435827 + Missense_Mutation SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr17:56435827C>T c.1310G>A c.(1309-1311)cGg>cAg p.R437Q COADREAD 17 56435861 56435861 + Nonsense_Mutation SNP G G A TCGA-A6-6649-01A-11D-1771-10 TCGA-A6-6649-10A-01D-1771-10 g.chr17:56435861G>A c.1276C>T c.(1276-1278)Cag>Tag p.Q426* COADREAD 17 56436150 56436150 + Silent SNP A A T TCGA-AA-3956-01A-02W-0995-10 TCGA-AA-3956-10A-01W-0995-10 g.chr17:56436150A>T c.987T>A c.(985-987)tcT>tcA p.S329S COADREAD 17 56437565 56437566 + Frame_Shift_Del DEL CA CA - TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr17:56437565_56437566delCA c.896_897delTG c.(895-897)gtgfs p.V299fs COADREAD 17 56437579 56437579 + Frame_Shift_Del DEL G G - TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr17:56437579delG c.883delC c.(883-885)catfs p.H295fs COADREAD 17 56437605 56437605 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr17:56437605C>T c.857G>A c.(856-858)cGg>cAg p.R286Q COADREAD 17 56438159 56438161 + In_Frame_Del DEL CTC CTC - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr17:56438159_56438161delCTC c.832_834delGAG c.(832-834)gagdel p.E278del COADREAD 17 56439945 56439945 + Missense_Mutation SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr17:56439945G>A c.647C>T c.(646-648)tCg>tTg p.S216L COADREAD 17 56439945 56439945 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:56439945G>A c.647C>T c.(646-648)tCg>tTg p.S216L COADREAD 17 56440904 56440904 + Nonsense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr17:56440904G>A c.433C>T c.(433-435)Cga>Tga p.R145* COADREAD 17 56448272 56448272 + Splice_Site SNP C C A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr17:56448272C>A c.375G>T c.(373-375)aaG>aaT p.K125N COADREAD 17 56448292 56448293 + Frame_Shift_Ins INS - - G TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr17:56448292_56448293insG c.354_355insC c.(352-357)ccctgcfs p.C119fs COADREAD 17 56448294 56448294 + Missense_Mutation SNP G G T TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr17:56448294G>T c.353C>A c.(352-354)cCc>cAc p.P118H COADREAD 17 56448297 56448297 + Frame_Shift_Del DEL C C - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr17:56448297delC c.350delG c.(349-351)cgcfs p.R117fs COADREAD 17 56448298 56448298 + Frame_Shift_Del DEL G G - TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr17:56448298delG c.349delC c.(349-351)cgcfs p.R117fs COADREAD 17 56448298 56448298 + Frame_Shift_Del DEL G G - TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr17:56448298delG c.349delC c.(349-351)cgcfs p.R117fs COADREAD 17 56448298 56448298 + Frame_Shift_Del DEL G G - TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr17:56448298delG c.349delC c.(349-351)cgcfs p.R117fs COADREAD 17 56448298 56448298 + Frame_Shift_Del DEL G G - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr17:56448298delG c.349delC c.(349-351)cgcfs p.R117fs COADREAD 17 56492691 56492691 + Missense_Mutation SNP A A G TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr17:56492691A>G c.248T>C c.(247-249)aTg>aCg p.M83T COADREAD 17 56492694 56492694 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:56492694A>G c.245T>C c.(244-246)tTa>tCa p.L82S COADREAD 17 56492796 56492796 + Missense_Mutation SNP A A G TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr17:56492796A>G c.143T>C c.(142-144)aTc>aCc p.I48T COADREAD 17 56492891 56492891 + Frame_Shift_Del DEL C C - TCGA-CA-5796-01A-01D-1650-10 TCGA-CA-5796-10A-01D-1650-10 g.chr17:56492891delC c.48delG c.(46-48)ctgfs p.L17fs ESCA 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs ESCA 17 56435892 56435892 + Silent SNP G G T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 g.chr17:56435892G>T c.1245C>A c.(1243-1245)ggC>ggA p.G415G ESCA 17 56438273 56438273 + Silent SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 g.chr17:56438273G>A c.720C>T c.(718-720)atC>atT p.I240I ESCA 17 56439977 56439977 + Silent SNP C C A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 g.chr17:56439977C>A c.615G>T c.(613-615)gtG>gtT p.V205V ESCA 17 56440667 56440667 + Missense_Mutation SNP A A G TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr17:56440667A>G c.551T>C c.(550-552)gTg>gCg p.V184A GBM 17 56435337 56435337 + Missense_Mutation SNP T T G TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 g.chr17:56435337T>G c.1800A>C c.(1798-1800)agA>agC p.R600S GBM 17 56439918 56439918 + Missense_Mutation SNP C C T TCGA-27-2528-01A-01D-1494-08 TCGA-27-2528-10A-01D-1494-08 g.chr17:56439918C>T c.674G>A c.(673-675)cGc>cAc p.R225H GBM 17 56492699 56492699 + Silent SNP T T C TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 g.chr17:56492699T>C c.240A>G c.(238-240)ggA>ggG p.G80G GBMLGG 17 56435337 56435337 + Missense_Mutation SNP T T G TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 g.chr17:56435337T>G c.1800A>C c.(1798-1800)agA>agC p.R600S GBMLGG 17 56435582 56435582 + Nonsense_Mutation SNP G G A TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 g.chr17:56435582G>A c.1555C>T c.(1555-1557)Cga>Tga p.R519* GBMLGG 17 56438188 56438188 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:56438188C>A c.805G>T c.(805-807)Gcc>Tcc p.A269S GBMLGG 17 56439918 56439918 + Missense_Mutation SNP C C T TCGA-27-2528-01A-01D-1494-08 TCGA-27-2528-10A-01D-1494-08 g.chr17:56439918C>T c.674G>A c.(673-675)cGc>cAc p.R225H GBMLGG 17 56439937 56439937 + Missense_Mutation SNP G G A TCGA-S9-A6TV-01A-12D-A34J-08 TCGA-S9-A6TV-10B-01D-A34M-08 g.chr17:56439937G>A c.655C>T c.(655-657)Cgc>Tgc p.R219C GBMLGG 17 56440939 56440939 + Missense_Mutation SNP C C T TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 g.chr17:56440939C>T c.398G>A c.(397-399)gGa>gAa p.G133E GBMLGG 17 56492699 56492699 + Silent SNP T T C TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 g.chr17:56492699T>C c.240A>G c.(238-240)ggA>ggG p.G80G HNSC 17 56435132 56435132 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr17:56435132G>A c.2005C>T c.(2005-2007)Ccc>Tcc p.P669S HNSC 17 56440747 56440747 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr17:56440747C>T c.471G>A c.(469-471)ctG>ctA p.L157L HNSC 17 56448300 56448300 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr17:56448300G>A c.347C>T c.(346-348)cCc>cTc p.P116L HNSC 17 56448301 56448301 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr17:56448301G>A c.346C>T c.(346-348)Ccc>Tcc p.P116S HNSC 17 56492716 56492716 + Missense_Mutation SNP T T C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 g.chr17:56492716T>C c.223A>G c.(223-225)Ata>Gta p.I75V HNSC 17 56492888 56492888 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr17:56492888C>T c.51G>A c.(49-51)ctG>ctA p.L17L KICH 17 56439960 56439960 + Missense_Mutation SNP A A G TCGA-KM-8476-01A-11D-2310-10 TCGA-KM-8476-10A-01D-2311-10 g.chr17:56439960A>G c.632T>C c.(631-633)gTg>gCg p.V211A KICH 17 56448329 56448329 + Silent SNP G G T TCGA-KL-8333-01A-11D-2310-10 TCGA-KL-8333-11A-01D-2310-10 g.chr17:56448329G>T c.318C>A c.(316-318)atC>atA p.I106I KIPAN 17 56435542 56435542 + Missense_Mutation SNP G G A TCGA-CJ-5672-01A-11D-1534-10 TCGA-CJ-5672-11A-01D-1534-10 g.chr17:56435542G>A c.1595C>T c.(1594-1596)tCc>tTc p.S532F KIPAN 17 56439960 56439960 + Missense_Mutation SNP A A G TCGA-KM-8476-01A-11D-2310-10 TCGA-KM-8476-10A-01D-2311-10 g.chr17:56439960A>G c.632T>C c.(631-633)gTg>gCg p.V211A KIPAN 17 56440700 56440700 + Missense_Mutation SNP A A G TCGA-CZ-5454-01A-01D-1501-10 TCGA-CZ-5454-11A-01D-1501-10 g.chr17:56440700A>G c.518T>C c.(517-519)aTg>aCg p.M173T KIPAN 17 56448329 56448329 + Silent SNP G G T TCGA-KL-8333-01A-11D-2310-10 TCGA-KL-8333-11A-01D-2310-10 g.chr17:56448329G>T c.318C>A c.(316-318)atC>atA p.I106I KIPAN 17 56492851 56492851 + Missense_Mutation SNP G G C TCGA-SX-A7SO-01A-11D-A34Z-10 TCGA-SX-A7SO-10A-01D-A34Z-10 g.chr17:56492851G>C c.88C>G c.(88-90)Ctg>Gtg p.L30V KIPAN 17 56492887 56492887 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr17:56492887T>C c.52A>G c.(52-54)Atg>Gtg p.M18V KIRC 17 56435542 56435542 + Missense_Mutation SNP G G A TCGA-CJ-5672-01A-11D-1534-10 TCGA-CJ-5672-11A-01D-1534-10 g.chr17:56435542G>A c.1595C>T c.(1594-1596)tCc>tTc p.S532F KIRC 17 56440700 56440700 + Missense_Mutation SNP A A G TCGA-CZ-5454-01A-01D-1501-10 TCGA-CZ-5454-11A-01D-1501-10 g.chr17:56440700A>G c.518T>C c.(517-519)aTg>aCg p.M173T KIRC 17 56492887 56492887 + Missense_Mutation SNP T T C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr17:56492887T>C c.52A>G c.(52-54)Atg>Gtg p.M18V KIRP 17 56492851 56492851 + Missense_Mutation SNP G G C TCGA-SX-A7SO-01A-11D-A34Z-10 TCGA-SX-A7SO-10A-01D-A34Z-10 g.chr17:56492851G>C c.88C>G c.(88-90)Ctg>Gtg p.L30V LGG 17 56435582 56435582 + Nonsense_Mutation SNP G G A TCGA-HT-7690-01A-11D-2253-08 TCGA-HT-7690-10A-01D-2253-08 g.chr17:56435582G>A c.1555C>T c.(1555-1557)Cga>Tga p.R519* LGG 17 56438188 56438188 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:56438188C>A c.805G>T c.(805-807)Gcc>Tcc p.A269S LGG 17 56439937 56439937 + Missense_Mutation SNP G G A TCGA-S9-A6TV-01A-12D-A34J-08 TCGA-S9-A6TV-10B-01D-A34M-08 g.chr17:56439937G>A c.655C>T c.(655-657)Cgc>Tgc p.R219C LGG 17 56440939 56440939 + Missense_Mutation SNP C C T TCGA-S9-A7QZ-01A-12D-A34J-08 TCGA-S9-A7QZ-10A-01D-A34M-08 g.chr17:56440939C>T c.398G>A c.(397-399)gGa>gAa p.G133E LIHC 17 56435197 56435197 + Missense_Mutation SNP A A T TCGA-ED-A7XP-01A-11D-A34Z-10 TCGA-ED-A7XP-10A-01D-A34Z-10 g.chr17:56435197A>T c.1940T>A c.(1939-1941)cTc>cAc p.L647H LIHC 17 56435407 56435407 + Missense_Mutation SNP T T A TCGA-ED-A459-01A-11D-A25V-10 TCGA-ED-A459-10A-01D-A25V-10 g.chr17:56435407T>A c.1730A>T c.(1729-1731)cAg>cTg p.Q577L LIHC 17 56448298 56448298 + Missense_Mutation SNP G G T TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr17:56448298G>T c.349C>A c.(349-351)Cgc>Agc p.R117S LUAD 17 56434870 56434870 + Missense_Mutation SNP G G A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 g.chr17:56434870G>A c.2267C>T c.(2266-2268)cCa>cTa p.P756L LUAD 17 56434943 56434943 + Missense_Mutation SNP G G A TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr17:56434943G>A c.2194C>T c.(2194-2196)Cgc>Tgc p.R732C LUAD 17 56434993 56434993 + Missense_Mutation SNP G G A TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr17:56434993G>A c.2144C>T c.(2143-2145)cCa>cTa p.P715L LUAD 17 56435120 56435120 + Missense_Mutation SNP T T C TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr17:56435120T>C c.2017A>G c.(2017-2019)Act>Gct p.T673A LUAD 17 56435128 56435128 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr17:56435128T>A c.2009A>T c.(2008-2010)cAg>cTg p.Q670L LUAD 17 56435163 56435163 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr17:56435163C>A c.1974G>T c.(1972-1974)ggG>ggT p.G658G LUAD 17 56438227 56438227 + Missense_Mutation SNP G G C TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 g.chr17:56438227G>C c.766C>G c.(766-768)Cgg>Ggg p.R256G LUAD 17 56438273 56438273 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr17:56438273G>A c.720C>T c.(718-720)atC>atT p.I240I LUAD 17 56439904 56439904 + Splice_Site SNP C C G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 g.chr17:56439904C>G c.e5+1 LUAD 17 56440903 56440904 + Frame_Shift_Ins INS - - AT TCGA-05-5429-01A-01D-1625-08 TCGA-05-5429-10A-01D-1625-08 g.chr17:56440903_56440904insAT c.433_434insAT c.(433-435)cgafs p.R145fs LUAD 17 56492903 56492903 + Silent SNP G G C TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr17:56492903G>C c.36C>G c.(34-36)ctC>ctG p.L12L LUSC 17 56434896 56434896 + Nonsense_Mutation SNP C C T TCGA-66-2773-01A-01D-1267-08 TCGA-66-2773-11A-01D-1267-08 g.chr17:56434896C>T c.2241G>A c.(2239-2241)tgG>tgA p.W747* LUSC 17 56435050 56435050 + Missense_Mutation SNP G G A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 g.chr17:56435050G>A c.2087C>T c.(2086-2088)gCa>gTa p.A696V LUSC 17 56435317 56435317 + Missense_Mutation SNP G G A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 g.chr17:56435317G>A c.1820C>T c.(1819-1821)tCg>tTg p.S607L LUSC 17 56435697 56435697 + Silent SNP G G A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 g.chr17:56435697G>A c.1440C>T c.(1438-1440)gtC>gtT p.V480V LUSC 17 56438267 56438267 + Silent SNP C C T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr17:56438267C>T c.726G>A c.(724-726)caG>caA p.Q242Q OV 17 56440919 56440919 + Missense_Mutation SNP C C G TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 g.chr17:56440919C>G c.418G>C c.(418-420)Gac>Cac p.D140H OV 17 56448295 56448295 + Missense_Mutation SNP G G T TCGA-25-2393-01A-01W-0799-08 TCGA-25-2393-10A-01W-0799-08 g.chr17:56448295G>T c.352C>A c.(352-354)Ccc>Acc p.P118T PAAD 17 56434978 56434978 + Missense_Mutation SNP G G A TCGA-YY-A8LH-01A-11D-A36O-08 TCGA-YY-A8LH-10A-01D-A367-08 g.chr17:56434978G>A c.2159C>T c.(2158-2160)tCa>tTa p.S720L PAAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs PAAD 17 56435356 56435356 + Frame_Shift_Del DEL G G - TCGA-YY-A8LH-01A-11D-A36O-08 TCGA-YY-A8LH-10A-01D-A367-08 g.chr17:56435356delG c.1781delC c.(1780-1782)cctfs p.P594fs PAAD 17 56435680 56435680 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:56435680C>A c.1457G>T c.(1456-1458)aGc>aTc p.S486I PAAD 17 56437602 56437603 + Frame_Shift_Ins INS - - C TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 g.chr17:56437602_56437603insC c.859_860insG c.(859-861)gtcfs p.V287fs PAAD 17 56439980 56439980 + Frame_Shift_Del DEL T T - TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr17:56439980delT c.612delA c.(610-612)acafs p.T204fs PAAD 17 56440681 56440681 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:56440681G>A c.537C>T c.(535-537)aaC>aaT p.N179N PAAD 17 56440904 56440904 + Nonsense_Mutation SNP G G A TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 g.chr17:56440904G>A c.433C>T c.(433-435)Cga>Tga p.R145* PAAD 17 56448270 56448270 + Splice_Site SNP A A G TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 g.chr17:56448270A>G c.e2+1 PAAD 17 56448366 56448366 + Missense_Mutation SNP C C A TCGA-YY-A8LH-01A-11D-A36O-08 TCGA-YY-A8LH-10A-01D-A367-08 g.chr17:56448366C>A c.281G>T c.(280-282)aGt>aTt p.S94I PAAD 17 56492756 56492757 + Frame_Shift_Del DEL CA CA - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 g.chr17:56492756_56492757delCA c.182_183delTG c.(181-183)ctgfs p.L61fs PAAD 17 56492875 56492875 + Nonsense_Mutation SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 g.chr17:56492875G>A c.64C>T c.(64-66)Cag>Tag p.Q22* PAAD 17 56492904 56492908 + Frame_Shift_Del DEL AGGGC AGGGC - TCGA-2L-AAQA-01A-21D-A38G-08 TCGA-2L-AAQA-11A-11D-A38J-08 g.chr17:56492904_56492908delAGGGC c.31_35delGCCCT c.(31-36)gccctcfs p.AL11fs PRAD 17 56434877 56434877 + Missense_Mutation SNP C C G TCGA-HC-7819-01A-11D-2114-08 TCGA-HC-7819-10A-01D-2115-08 g.chr17:56434877C>G c.2260G>C c.(2260-2262)Ggc>Cgc p.G754R PRAD 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr17:56435161delC c.1976delG c.(1975-1977)ggtfs p.G659fs PRAD 17 56435189 56435189 + Nonsense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr17:56435189G>A c.1948C>T c.(1948-1950)Cga>Tga p.R650* PRAD 17 56435456 56435456 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:56435456G>A c.1681C>T c.(1681-1683)Cgg>Tgg p.R561W PRAD 17 56439945 56439945 + Nonsense_Mutation SNP G G T TCGA-X4-A8KQ-01A-12D-A364-08 TCGA-X4-A8KQ-10A-01D-A362-08 g.chr17:56439945G>T c.647C>A c.(646-648)tCg>tAg p.S216* READ 17 56435547 56435547 + Silent SNP A A G TCGA-AG-3600-01A-01W-0833-10 TCGA-AG-3600-10A-01W-0833-10 g.chr17:56435547A>G c.1590T>C c.(1588-1590)ccT>ccC p.P530P READ 17 56492694 56492694 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:56492694A>G c.245T>C c.(244-246)tTa>tCa p.L82S SARC 17 56435245 56435245 + Missense_Mutation SNP C C A TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 g.chr17:56435245C>A c.1892G>T c.(1891-1893)aGc>aTc p.S631I SKCM 17 56432331 56432331 + Silent SNP G G A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr17:56432331G>A c.2325C>T c.(2323-2325)ctC>ctT p.L775L SKCM 17 56434905 56434905 + Silent SNP A A T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr17:56434905A>T c.2232T>A c.(2230-2232)ccT>ccA p.P744P SKCM 17 56435042 56435042 + Missense_Mutation SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr17:56435042A>C c.2095T>G c.(2095-2097)Ttg>Gtg p.L699V SKCM 17 56435408 56435408 + Nonsense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr17:56435408G>A c.1729C>T c.(1729-1731)Cag>Tag p.Q577* SKCM 17 56435450 56435450 + Nonsense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr17:56435450G>A c.1687C>T c.(1687-1689)Cag>Tag p.Q563* SKCM 17 56435546 56435546 + Missense_Mutation SNP G G A TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 g.chr17:56435546G>A c.1591C>T c.(1591-1593)Cgt>Tgt p.R531C SKCM 17 56435718 56435718 + Silent SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 g.chr17:56435718G>A c.1419C>T c.(1417-1419)ggC>ggT p.G473G SKCM 17 56435835 56435835 + Silent SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr17:56435835G>A c.1302C>T c.(1300-1302)ccC>ccT p.P434P SKCM 17 56436015 56436015 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:56436015G>A c.1122C>T c.(1120-1122)ccC>ccT p.P374P

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 17 56435702 56435702 single base substitution C A downstream_gene_variant BLCA-CN 17 56435702 56435702 single base substitution C A missense_variant V352L 1054G>T BLCA-CN 17 56435702 56435702 single base substitution C A missense_variant V438L 1312G>T BLCA-CN 17 56435702 56435702 single base substitution C A missense_variant V479L 1435G>T BLCA-CN 17 56492818 56492818 single base substitution A T downstream_gene_variant BLCA-CN 17 56492818 56492818 single base substitution A T intron_variant BLCA-CN 17 56492818 56492818 single base substitution A T missense_variant S41T 121T>A BLCA-US 17 56428800 56428800 single base substitution C T downstream_gene_variant BLCA-US 17 56435956 56435956 single base substitution G A downstream_gene_variant BLCA-US 17 56435956 56435956 single base substitution G A missense_variant A267V 800C>T BLCA-US 17 56435956 56435956 single base substitution G A missense_variant A353V 1058C>T BLCA-US 17 56435956 56435956 single base substitution G A missense_variant A394V 1181C>T BOCA-FR 17 56439879 56439879 single base substitution G A downstream_gene_variant BOCA-FR 17 56439879 56439879 single base substitution G A intron_variant BOCA-FR 17 56476798 56476798 single base substitution C A intron_variant BOCA-FR 17 56487824 56487824 single base substitution T C intron_variant BRCA-EU 17 56426067 56426067 single base substitution G C downstream_gene_variant BRCA-EU 17 56428098 56428098 single base substitution G A downstream_gene_variant BRCA-EU 17 56428421 56428421 single base substitution G A downstream_gene_variant BRCA-EU 17 56428873 56428873 single base substitution G T downstream_gene_variant BRCA-EU 17 56432682 56432682 deletion of <=200bp T - downstream_gene_variant BRCA-EU 17 56432682 56432682 deletion of <=200bp T - intron_variant BRCA-EU 17 56433090 56433090 single base substitution G A downstream_gene_variant BRCA-EU 17 56433090 56433090 single base substitution G A intron_variant BRCA-EU 17 56434031 56434031 single base substitution C T downstream_gene_variant BRCA-EU 17 56434031 56434031 single base substitution C T intron_variant BRCA-EU 17 56434356 56434356 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 56434356 56434356 single base substitution G A intron_variant BRCA-EU 17 56436687 56436687 single base substitution G A downstream_gene_variant BRCA-EU 17 56436687 56436687 single base substitution G A intron_variant BRCA-EU 17 56438205 56438205 single base substitution C T downstream_gene_variant BRCA-EU 17 56438205 56438205 single base substitution C T missense_variant G136E 407G>A BRCA-EU 17 56438205 56438205 single base substitution C T missense_variant G222E 665G>A BRCA-EU 17 56438205 56438205 single base substitution C T missense_variant G263E 788G>A BRCA-EU 17 56438448 56438448 single base substitution C T downstream_gene_variant BRCA-EU 17 56438448 56438448 single base substitution C T intron_variant BRCA-EU 17 56439470 56439471 deletion of <=200bp AC - downstream_gene_variant BRCA-EU 17 56439470 56439471 deletion of <=200bp AC - intron_variant BRCA-EU 17 56439471 56439471 deletion of <=200bp C - downstream_gene_variant BRCA-EU 17 56439471 56439471 deletion of <=200bp C - intron_variant BRCA-EU 17 56443330 56443330 single base substitution C T intron_variant BRCA-EU 17 56443330 56443330 single base substitution C T upstream_gene_variant BRCA-EU 17 56443544 56443544 single base substitution C T intron_variant BRCA-EU 17 56443544 56443544 single base substitution C T upstream_gene_variant BRCA-EU 17 56443711 56443711 insertion of <=200bp - C intron_variant BRCA-EU 17 56443711 56443711 insertion of <=200bp - C upstream_gene_variant BRCA-EU 17 56446889 56446889 single base substitution C T intron_variant BRCA-EU 17 56446892 56446892 single base substitution C G intron_variant BRCA-EU 17 56447140 56447140 single base substitution T G intron_variant BRCA-EU 17 56447531 56447531 single base substitution A G intron_variant BRCA-EU 17 56448514 56448514 single base substitution G C intron_variant BRCA-EU 17 56449402 56449402 single base substitution T A intron_variant BRCA-EU 17 56451137 56451137 deletion of <=200bp T - intron_variant BRCA-EU 17 56451897 56451897 single base substitution G A intron_variant BRCA-EU 17 56452306 56452306 single base substitution C T intron_variant BRCA-EU 17 56452506 56452506 single base substitution T C intron_variant BRCA-EU 17 56452750 56452750 single base substitution T A intron_variant BRCA-EU 17 56455170 56455170 single base substitution C G intron_variant BRCA-EU 17 56455589 56455589 single base substitution C T intron_variant BRCA-EU 17 56456188 56456188 single base substitution G A intron_variant BRCA-EU 17 56456200 56456200 single base substitution G C intron_variant BRCA-EU 17 56457532 56457532 single base substitution G C intron_variant BRCA-EU 17 56457641 56457641 single base substitution G T intron_variant BRCA-EU 17 56458670 56458670 single base substitution G A intron_variant BRCA-EU 17 56459736 56459736 single base substitution T C intron_variant BRCA-EU 17 56459828 56459828 single base substitution G A intron_variant BRCA-EU 17 56459945 56459945 single base substitution G C intron_variant BRCA-EU 17 56461539 56461539 single base substitution G C intron_variant BRCA-EU 17 56462414 56462414 single base substitution C G intron_variant BRCA-EU 17 56463771 56463771 single base substitution G C intron_variant BRCA-EU 17 56464735 56464735 single base substitution G A intron_variant BRCA-EU 17 56465161 56465164 deletion of <=200bp TAAC - intron_variant BRCA-EU 17 56467374 56467374 single base substitution C T intron_variant BRCA-EU 17 56467939 56467939 single base substitution G C intron_variant BRCA-EU 17 56468786 56468786 single base substitution G T intron_variant BRCA-EU 17 56468892 56468892 single base substitution G C intron_variant BRCA-EU 17 56471170 56471170 single base substitution C A intron_variant BRCA-EU 17 56473310 56473310 single base substitution T C intron_variant BRCA-EU 17 56474197 56474197 single base substitution C T intron_variant BRCA-EU 17 56474860 56474860 deletion of <=200bp A - intron_variant BRCA-EU 17 56474884 56474884 single base substitution C A intron_variant BRCA-EU 17 56475427 56475427 single base substitution G T intron_variant BRCA-EU 17 56477153 56477153 single base substitution C G intron_variant BRCA-EU 17 56477443 56477443 single base substitution G A intron_variant BRCA-EU 17 56479345 56479345 single base substitution G C intron_variant BRCA-EU 17 56479702 56479702 single base substitution T A intron_variant BRCA-EU 17 56480952 56480952 single base substitution G C intron_variant BRCA-EU 17 56480952 56480952 single base substitution G C upstream_gene_variant BRCA-EU 17 56481094 56481094 single base substitution A G intron_variant BRCA-EU 17 56481094 56481094 single base substitution A G upstream_gene_variant BRCA-EU 17 56482564 56482564 single base substitution G A intron_variant BRCA-EU 17 56482564 56482564 single base substitution G A upstream_gene_variant BRCA-EU 17 56483532 56483532 single base substitution A T intron_variant BRCA-EU 17 56483532 56483532 single base substitution A T upstream_gene_variant BRCA-EU 17 56483594 56483594 single base substitution T A intron_variant BRCA-EU 17 56483594 56483594 single base substitution T A upstream_gene_variant BRCA-EU 17 56484035 56484035 single base substitution G C intron_variant BRCA-EU 17 56484035 56484035 single base substitution G C upstream_gene_variant BRCA-EU 17 56484821 56484821 single base substitution T A intron_variant BRCA-EU 17 56484821 56484821 single base substitution T A upstream_gene_variant BRCA-EU 17 56486171 56486171 single base substitution A T intron_variant BRCA-EU 17 56486197 56486197 single base substitution C T intron_variant BRCA-EU 17 56486570 56486570 single base substitution A T intron_variant BRCA-EU 17 56486653 56486653 single base substitution G A intron_variant BRCA-EU 17 56486791 56486791 single base substitution G C intron_variant BRCA-EU 17 56487156 56487156 single base substitution C T intron_variant BRCA-EU 17 56489070 56489070 single base substitution T C intron_variant BRCA-EU 17 56490632 56490632 single base substitution C T downstream_gene_variant BRCA-EU 17 56490632 56490632 single base substitution C T intron_variant BRCA-EU 17 56491423 56491423 single base substitution T G downstream_gene_variant BRCA-EU 17 56491423 56491423 single base substitution T G intron_variant BRCA-EU 17 56492015 56492016 deletion of <=200bp TA - downstream_gene_variant BRCA-EU 17 56492015 56492016 deletion of <=200bp TA - intron_variant BRCA-EU 17 56494815 56494815 single base substitution C T 5_prime_UTR_variant BRCA-EU 17 56494815 56494815 single base substitution C T exon_variant BRCA-EU 17 56494815 56494815 single base substitution C T upstream_gene_variant BRCA-EU 17 56495085 56495085 insertion of <=200bp - C upstream_gene_variant BRCA-EU 17 56496491 56496491 single base substitution G A upstream_gene_variant BRCA-FR 17 56427035 56427035 single base substitution C T downstream_gene_variant BRCA-FR 17 56436520 56436520 single base substitution C G downstream_gene_variant BRCA-FR 17 56436520 56436520 single base substitution C G intron_variant BRCA-FR 17 56438448 56438448 single base substitution C T downstream_gene_variant BRCA-FR 17 56438448 56438448 single base substitution C T intron_variant BRCA-FR 17 56447651 56447651 single base substitution G A intron_variant BRCA-FR 17 56456200 56456200 single base substitution G C intron_variant BRCA-FR 17 56457532 56457532 single base substitution G C intron_variant BRCA-FR 17 56457641 56457641 single base substitution G T intron_variant BRCA-FR 17 56463771 56463771 single base substitution G C intron_variant BRCA-FR 17 56463775 56463775 single base substitution G A intron_variant BRCA-FR 17 56467009 56467009 single base substitution C T intron_variant BRCA-FR 17 56467939 56467939 single base substitution G C intron_variant BRCA-FR 17 56468786 56468786 single base substitution G T intron_variant BRCA-FR 17 56475427 56475427 single base substitution G T intron_variant BRCA-FR 17 56476424 56476424 single base substitution G C intron_variant BRCA-FR 17 56477443 56477443 single base substitution G A intron_variant BRCA-FR 17 56483594 56483594 single base substitution T A intron_variant BRCA-FR 17 56483594 56483594 single base substitution T A upstream_gene_variant BRCA-FR 17 56484035 56484035 single base substitution G C intron_variant BRCA-FR 17 56484035 56484035 single base substitution G C upstream_gene_variant BRCA-FR 17 56486197 56486197 single base substitution C T intron_variant BRCA-KR 17 56439982 56439982 single base substitution T C downstream_gene_variant BRCA-KR 17 56439982 56439982 single base substitution T C missense_variant T163A 487A>G BRCA-KR 17 56439982 56439982 single base substitution T C missense_variant T204A 610A>G BRCA-KR 17 56439982 56439982 single base substitution T C missense_variant T77A 229A>G BRCA-UK 17 56428098 56428098 single base substitution G A downstream_gene_variant BRCA-UK 17 56428421 56428421 single base substitution G A downstream_gene_variant BRCA-UK 17 56467374 56467374 single base substitution C T intron_variant BRCA-UK 17 56468272 56468272 single base substitution C T intron_variant BRCA-UK 17 56469795 56469795 single base substitution C A intron_variant BRCA-UK 17 56492663 56492663 single base substitution G C downstream_gene_variant BRCA-UK 17 56492663 56492663 single base substitution G C intron_variant BRCA-UK 17 56492836 56492836 single base substitution C A downstream_gene_variant BRCA-UK 17 56492836 56492836 single base substitution C A intron_variant BRCA-UK 17 56492836 56492836 single base substitution C A missense_variant A35S 103G>T BRCA-UK 17 56493011 56493011 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant BRCA-UK 17 56493011 56493011 single base substitution G T downstream_gene_variant BRCA-UK 17 56493011 56493011 single base substitution G T intron_variant BRCA-UK 17 56493011 56493011 single base substitution G T upstream_gene_variant BRCA-UK 17 56493904 56493904 single base substitution G A 5_prime_UTR_variant BRCA-UK 17 56493904 56493904 single base substitution G A downstream_gene_variant BRCA-UK 17 56493904 56493904 single base substitution G A intron_variant BRCA-UK 17 56493904 56493904 single base substitution G A upstream_gene_variant BRCA-UK 17 56493915 56493915 single base substitution G C 5_prime_UTR_variant BRCA-UK 17 56493915 56493915 single base substitution G C downstream_gene_variant BRCA-UK 17 56493915 56493915 single base substitution G C intron_variant BRCA-UK 17 56493915 56493915 single base substitution G C upstream_gene_variant BRCA-UK 17 56494626 56494626 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-UK 17 56494626 56494626 single base substitution G C intron_variant BRCA-UK 17 56494626 56494626 single base substitution G C upstream_gene_variant BRCA-US 17 56435161 56435161 deletion of <=200bp C - frameshift_variant G532 BRCA-US 17 56435161 56435161 deletion of <=200bp C - frameshift_variant G618 BRCA-US 17 56435161 56435161 deletion of <=200bp C - frameshift_variant G659 BRCA-US 17 56435317 56435317 single base substitution G A missense_variant S480L 1439C>T BRCA-US 17 56435317 56435317 single base substitution G A missense_variant S566L 1697C>T BRCA-US 17 56435317 56435317 single base substitution G A missense_variant S607L 1820C>T BRCA-US 17 56448375 56448375 single base substitution C T 5_prime_UTR_variant BRCA-US 17 56448375 56448375 single base substitution C T intron_variant BRCA-US 17 56448375 56448375 single base substitution C T missense_variant C91Y 272G>A BRCA-US 17 56492758 56492758 single base substitution G T downstream_gene_variant BRCA-US 17 56492758 56492758 single base substitution G T intron_variant BRCA-US 17 56492758 56492758 single base substitution G T missense_variant L61M 181C>A BTCA-JP 17 56429595 56429595 single base substitution C T downstream_gene_variant BTCA-JP 17 56435161 56435161 deletion of <=200bp C - frameshift_variant G532 BTCA-JP 17 56435161 56435161 deletion of <=200bp C - frameshift_variant G618 BTCA-JP 17 56435161 56435161 deletion of <=200bp C - frameshift_variant G659 BTCA-JP 17 56435376 56435376 single base substitution G A synonymous_variant P460P 1380C>T BTCA-JP 17 56435376 56435376 single base substitution G A synonymous_variant P546P 1638C>T BTCA-JP 17 56435376 56435376 single base substitution G A synonymous_variant P587P 1761C>T BTCA-JP 17 56435746 56435746 insertion of <=200bp - CTGG downstream_gene_variant BTCA-JP 17 56435746 56435746 insertion of <=200bp - CTGG frameshift_variant S337SQ? BTCA-JP 17 56435746 56435746 insertion of <=200bp - CTGG frameshift_variant S423SQ? BTCA-JP 17 56435746 56435746 insertion of <=200bp - CTGG frameshift_variant S464SQ? BTCA-JP 17 56437721 56437721 single base substitution G C downstream_gene_variant BTCA-JP 17 56437721 56437721 single base substitution G C intron_variant BTCA-JP 17 56437772 56437772 single base substitution G C downstream_gene_variant BTCA-JP 17 56437772 56437772 single base substitution G C intron_variant BTCA-JP 17 56437984 56437984 single base substitution G C downstream_gene_variant BTCA-JP 17 56437984 56437984 single base substitution G C intron_variant BTCA-JP 17 56438216 56438216 single base substitution C T downstream_gene_variant BTCA-JP 17 56438216 56438216 single base substitution C T stop_gained W132* 396G>A BTCA-JP 17 56438216 56438216 single base substitution C T stop_gained W218* 654G>A BTCA-JP 17 56438216 56438216 single base substitution C T stop_gained W259* 777G>A BTCA-JP 17 56492694 56492694 single base substitution A C downstream_gene_variant BTCA-JP 17 56492694 56492694 single base substitution A C intron_variant BTCA-JP 17 56492694 56492694 single base substitution A C stop_gained L82* 245T>G BTCA-JP 17 56499614 56499614 deletion of <=200bp T - upstream_gene_variant CESC-US 17 56429476 56429476 single base substitution C T downstream_gene_variant CESC-US 17 56434537 56434537 single base substitution G A intron_variant CESC-US 17 56434537 56434537 single base substitution G A missense_variant S740L 2219C>T CESC-US 17 56435253 56435253 single base substitution G A synonymous_variant D501D 1503C>T CESC-US 17 56435253 56435253 single base substitution G A synonymous_variant D587D 1761C>T CESC-US 17 56435253 56435253 single base substitution G A synonymous_variant D628D 1884C>T CESC-US 17 56435412 56435412 single base substitution G A synonymous_variant V448V 1344C>T CESC-US 17 56435412 56435412 single base substitution G A synonymous_variant V534V 1602C>T CESC-US 17 56435412 56435412 single base substitution G A synonymous_variant V575V 1725C>T CLLE-ES 17 56433499 56433499 single base substitution C A downstream_gene_variant CLLE-ES 17 56433499 56433499 single base substitution C A intron_variant CLLE-ES 17 56476749 56476749 single base substitution C T intron_variant COAD-US 17 56429483 56429483 single base substitution G A downstream_gene_variant COAD-US 17 56435047 56435047 single base substitution T C missense_variant H570R 1709A>G COAD-US 17 56435047 56435047 single base substitution T C missense_variant H656R 1967A>G COAD-US 17 56435047 56435047 single base substitution T C missense_variant H697R 2090A>G COAD-US 17 56435161 56435161 deletion of <=200bp C - frameshift_variant G532 COAD-US 17 56435161 56435161 deletion of <=200bp C - frameshift_variant G618 COAD-US 17 56435161 56435161 deletion of <=200bp C - frameshift_variant G659 COAD-US 17 56435161 56435162 deletion of <=200bp CC - frameshift_variant G532 COAD-US 17 56435161 56435162 deletion of <=200bp CC - frameshift_variant G618 COAD-US 17 56435161 56435162 deletion of <=200bp CC - frameshift_variant G659 COAD-US 17 56435167 56435167 single base substitution C T missense_variant R530Q 1589G>A COAD-US 17 56435167 56435167 single base substitution C T missense_variant R616Q 1847G>A COAD-US 17 56435167 56435167 single base substitution C T missense_variant R657Q 1970G>A COAD-US 17 56435252 56435252 deletion of <=200bp C - frameshift_variant A502 COAD-US 17 56435252 56435252 deletion of <=200bp C - frameshift_variant A588 COAD-US 17 56435252 56435252 deletion of <=200bp C - frameshift_variant A629 COAD-US 17 56435431 56435431 single base substitution G T missense_variant P442H 1325C>A COAD-US 17 56435431 56435431 single base substitution G T missense_variant P528H 1583C>A COAD-US 17 56435431 56435431 single base substitution G T missense_variant P569H 1706C>A COAD-US 17 56435827 56435827 single base substitution C T downstream_gene_variant COAD-US 17 56435827 56435827 single base substitution C T missense_variant R310Q 929G>A COAD-US 17 56435827 56435827 single base substitution C T missense_variant R396Q 1187G>A COAD-US 17 56435827 56435827 single base substitution C T missense_variant R437Q 1310G>A COAD-US 17 56435861 56435861 single base substitution G A downstream_gene_variant COAD-US 17 56435861 56435861 single base substitution G A stop_gained Q299* 895C>T COAD-US 17 56435861 56435861 single base substitution G A stop_gained Q385* 1153C>T COAD-US 17 56435861 56435861 single base substitution G A stop_gained Q426* 1276C>T COAD-US 17 56437579 56437579 deletion of <=200bp G - downstream_gene_variant COAD-US 17 56437579 56437579 deletion of <=200bp G - frameshift_variant H168 COAD-US 17 56437579 56437579 deletion of <=200bp G - frameshift_variant H254 COAD-US 17 56437579 56437579 deletion of <=200bp G - frameshift_variant H295 COAD-US 17 56437605 56437605 single base substitution C T downstream_gene_variant COAD-US 17 56437605 56437605 single base substitution C T missense_variant R159Q 476G>A COAD-US 17 56437605 56437605 single base substitution C T missense_variant R245Q 734G>A COAD-US 17 56437605 56437605 single base substitution C T missense_variant R286Q 857G>A COAD-US 17 56438159 56438161 deletion of <=200bp CTC - downstream_gene_variant COAD-US 17 56438159 56438161 deletion of <=200bp CTC - inframe_deletion E151 COAD-US 17 56438159 56438161 deletion of <=200bp CTC - inframe_deletion E237 COAD-US 17 56438159 56438161 deletion of <=200bp CTC - inframe_deletion E278 COAD-US 17 56440904 56440904 single base substitution G A exon_variant COAD-US 17 56440904 56440904 single base substitution G A stop_gained R104* 310C>T COAD-US 17 56440904 56440904 single base substitution G A stop_gained R145* 433C>T COAD-US 17 56440904 56440904 single base substitution G A stop_gained R18* 52C>T COAD-US 17 56448272 56448272 single base substitution C A intron_variant COAD-US 17 56448272 56448272 single base substitution C A missense_variant K125N 375G>T COAD-US 17 56448272 56448272 single base substitution C A splice_region_variant COAD-US 17 56448292 56448292 insertion of <=200bp - G 5_prime_UTR_variant COAD-US 17 56448292 56448292 insertion of <=200bp - G frameshift_variant C119S? COAD-US 17 56448292 56448292 insertion of <=200bp - G intron_variant COAD-US 17 56448297 56448297 deletion of <=200bp C - 5_prime_UTR_variant COAD-US 17 56448297 56448297 deletion of <=200bp C - frameshift_variant R117 COAD-US 17 56448297 56448297 deletion of <=200bp C - intron_variant COAD-US 17 56448297 56448297 insertion of <=200bp - G 5_prime_UTR_variant COAD-US 17 56448297 56448297 insertion of <=200bp - G frameshift_variant R117R? COAD-US 17 56448297 56448297 insertion of <=200bp - G intron_variant COAD-US 17 56448297 56448297 single base substitution C T 5_prime_UTR_variant COAD-US 17 56448297 56448297 single base substitution C T intron_variant COAD-US 17 56448297 56448297 single base substitution C T missense_variant R117H 350G>A COAD-US 17 56448298 56448298 deletion of <=200bp G - 5_prime_UTR_variant COAD-US 17 56448298 56448298 deletion of <=200bp G - frameshift_variant R117 COAD-US 17 56448298 56448298 deletion of <=200bp G - intron_variant COAD-US 17 56492740 56492740 single base substitution C A downstream_gene_variant COAD-US 17 56492740 56492740 single base substitution C A intron_variant COAD-US 17 56492740 56492740 single base substitution C A missense_variant G67C 199G>T COAD-US 17 56492891 56492891 deletion of <=200bp C - downstream_gene_variant COAD-US 17 56492891 56492891 deletion of <=200bp C - frameshift_variant L16 COAD-US 17 56492891 56492891 deletion of <=200bp C - intron_variant COAD-US 17 56499786 56499786 single base substitution G T upstream_gene_variant COCA-CN 17 56429595 56429595 single base substitution C T downstream_gene_variant COCA-CN 17 56429675 56429675 single base substitution C G downstream_gene_variant COCA-CN 17 56432362 56432362 single base substitution C G downstream_gene_variant COCA-CN 17 56432362 56432362 single base substitution C G intron_variant COCA-CN 17 56435189 56435189 single base substitution G A stop_gained R523* 1567C>T COCA-CN 17 56435189 56435189 single base substitution G A stop_gained R609* 1825C>T COCA-CN 17 56435189 56435189 single base substitution G A stop_gained R650* 1948C>T COCA-CN 17 56436108 56436108 single base substitution G A downstream_gene_variant COCA-CN 17 56436108 56436108 single base substitution G A synonymous_variant R216R 648C>T COCA-CN 17 56436108 56436108 single base substitution G A synonymous_variant R302R 906C>T COCA-CN 17 56436108 56436108 single base substitution G A synonymous_variant R343R 1029C>T COCA-CN 17 56437958 56437958 single base substitution C T downstream_gene_variant COCA-CN 17 56437958 56437958 single base substitution C T intron_variant COCA-CN 17 56440642 56440642 single base substitution C G exon_variant COCA-CN 17 56440642 56440642 single base substitution C G synonymous_variant P151P 453G>C COCA-CN 17 56440642 56440642 single base substitution C G synonymous_variant P192P 576G>C COCA-CN 17 56440642 56440642 single base substitution C G synonymous_variant P65P 195G>C COCA-CN 17 56440919 56440919 single base substitution C A exon_variant COCA-CN 17 56440919 56440919 single base substitution C A missense_variant D13Y 37G>T COCA-CN 17 56440919 56440919 single base substitution C A missense_variant D140Y 418G>T COCA-CN 17 56440919 56440919 single base substitution C A missense_variant D99Y 295G>T COCA-CN 17 56448298 56448298 single base substitution G T 5_prime_UTR_variant COCA-CN 17 56448298 56448298 single base substitution G T intron_variant COCA-CN 17 56448298 56448298 single base substitution G T missense_variant R117S 349C>A COCA-CN 17 56448310 56448310 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 17 56448310 56448310 single base substitution G A intron_variant COCA-CN 17 56448310 56448310 single base substitution G A stop_gained R113* 337C>T COCA-CN 17 56492805 56492805 single base substitution T G downstream_gene_variant COCA-CN 17 56492805 56492805 single base substitution T G intron_variant COCA-CN 17 56492805 56492805 single base substitution T G missense_variant K45T 134A>C COCA-CN 17 56492854 56492854 single base substitution C A downstream_gene_variant COCA-CN 17 56492854 56492854 single base substitution C A intron_variant COCA-CN 17 56492854 56492854 single base substitution C A stop_gained G29* 85G>T COCA-CN 17 56499861 56499861 single base substitution G A upstream_gene_variant ESAD-UK 17 56425137 56425137 single base substitution C T downstream_gene_variant ESAD-UK 17 56427241 56427241 single base substitution G C downstream_gene_variant ESAD-UK 17 56427658 56427658 single base substitution A G downstream_gene_variant ESAD-UK 17 56428545 56428545 single base substitution C T downstream_gene_variant ESAD-UK 17 56430389 56430389 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 56430389 56430389 single base substitution C T downstream_gene_variant ESAD-UK 17 56431239 56431239 insertion of <=200bp - CCGGC 3_prime_UTR_variant ESAD-UK 17 56431239 56431239 insertion of <=200bp - CCGGC downstream_gene_variant ESAD-UK 17 56432331 56432331 single base substitution G A downstream_gene_variant ESAD-UK 17 56432331 56432331 single base substitution G A synonymous_variant L648L 1944C>T ESAD-UK 17 56432331 56432331 single base substitution G A synonymous_variant L734L 2202C>T ESAD-UK 17 56432331 56432331 single base substitution G A synonymous_variant L775L 2325C>T ESAD-UK 17 56435161 56435161 deletion of <=200bp C - frameshift_variant G532 ESAD-UK 17 56435161 56435161 deletion of <=200bp C - frameshift_variant G618 ESAD-UK 17 56435161 56435161 deletion of <=200bp C - frameshift_variant G659 ESAD-UK 17 56435559 56435568 deletion of <=200bp CACACTAGGC - downstream_gene_variant ESAD-UK 17 56435559 56435568 deletion of <=200bp CACACTAGGC - frameshift_variant QPSV396 ESAD-UK 17 56435559 56435568 deletion of <=200bp CACACTAGGC - frameshift_variant QPSV482 ESAD-UK 17 56435559 56435568 deletion of <=200bp CACACTAGGC - frameshift_variant QPSV523 ESAD-UK 17 56435725 56435725 single base substitution C T downstream_gene_variant ESAD-UK 17 56435725 56435725 single base substitution C T missense_variant C344Y 1031G>A ESAD-UK 17 56435725 56435725 single base substitution C T missense_variant C430Y 1289G>A ESAD-UK 17 56435725 56435725 single base substitution C T missense_variant C471Y 1412G>A ESAD-UK 17 56435744 56435744 insertion of <=200bp - CA downstream_gene_variant ESAD-UK 17 56435744 56435744 insertion of <=200bp - CA frameshift_variant D338V? ESAD-UK 17 56435744 56435744 insertion of <=200bp - CA frameshift_variant D424V? ESAD-UK 17 56435744 56435744 insertion of <=200bp - CA frameshift_variant D465V? ESAD-UK 17 56436149 56436149 single base substitution G A downstream_gene_variant ESAD-UK 17 56436149 56436149 single base substitution G A stop_gained R203* 607C>T ESAD-UK 17 56436149 56436149 single base substitution G A stop_gained R289* 865C>T ESAD-UK 17 56436149 56436149 single base substitution G A stop_gained R330* 988C>T ESAD-UK 17 56438146 56438146 single base substitution G A downstream_gene_variant ESAD-UK 17 56438146 56438146 single base substitution G A stop_gained Q156* 466C>T ESAD-UK 17 56438146 56438146 single base substitution G A stop_gained Q242* 724C>T ESAD-UK 17 56438146 56438146 single base substitution G A stop_gained Q283* 847C>T ESAD-UK 17 56439537 56439537 single base substitution C A downstream_gene_variant ESAD-UK 17 56439537 56439537 single base substitution C A intron_variant ESAD-UK 17 56440201 56440201 single base substitution C A downstream_gene_variant ESAD-UK 17 56440201 56440201 single base substitution C A intron_variant ESAD-UK 17 56440578 56440578 single base substitution G T exon_variant ESAD-UK 17 56440578 56440578 single base substitution G T intron_variant ESAD-UK 17 56440643 56440643 deletion of <=200bp G - exon_variant ESAD-UK 17 56440643 56440643 deletion of <=200bp G - frameshift_variant P151 ESAD-UK 17 56440643 56440643 deletion of <=200bp G - frameshift_variant P192 ESAD-UK 17 56440643 56440643 deletion of <=200bp G - frameshift_variant P65 ESAD-UK 17 56440948 56440948 single base substitution C T exon_variant ESAD-UK 17 56440948 56440948 single base substitution C T missense_variant G130D 389G>A ESAD-UK 17 56440948 56440948 single base substitution C T missense_variant G3D 8G>A ESAD-UK 17 56440948 56440948 single base substitution C T missense_variant G89D 266G>A ESAD-UK 17 56441831 56441831 single base substitution T G intron_variant ESAD-UK 17 56441831 56441831 single base substitution T G upstream_gene_variant ESAD-UK 17 56445612 56445612 single base substitution G C intron_variant ESAD-UK 17 56445612 56445612 single base substitution G C upstream_gene_variant ESAD-UK 17 56448385 56448385 deletion of <=200bp G - 5_prime_UTR_variant ESAD-UK 17 56448385 56448385 deletion of <=200bp G - frameshift_variant L88 ESAD-UK 17 56448385 56448385 deletion of <=200bp G - intron_variant ESAD-UK 17 56448387 56448390 deletion of <=200bp GGGT - 5_prime_UTR_variant ESAD-UK 17 56448387 56448390 deletion of <=200bp GGGT - frameshift_variant HP86 ESAD-UK 17 56448387 56448390 deletion of <=200bp GGGT - intron_variant ESAD-UK 17 56450576 56450576 single base substitution C T intron_variant ESAD-UK 17 56451146 56451146 single base substitution A T intron_variant ESAD-UK 17 56455790 56455790 single base substitution G T intron_variant ESAD-UK 17 56459082 56459082 single base substitution T A intron_variant ESAD-UK 17 56459248 56459248 deletion of <=200bp C - intron_variant ESAD-UK 17 56460303 56460304 deletion of <=200bp TT - intron_variant ESAD-UK 17 56461350 56461350 single base substitution C T intron_variant ESAD-UK 17 56462521 56462521 single base substitution A T intron_variant ESAD-UK 17 56463344 56463344 single base substitution G A intron_variant ESAD-UK 17 56468797 56468797 single base substitution A G intron_variant ESAD-UK 17 56471026 56471026 single base substitution G T intron_variant ESAD-UK 17 56472989 56472989 single base substitution G T intron_variant ESAD-UK 17 56480354 56480354 insertion of <=200bp - T intron_variant ESAD-UK 17 56480354 56480354 insertion of <=200bp - T upstream_gene_variant ESAD-UK 17 56482951 56482951 single base substitution G A intron_variant ESAD-UK 17 56482951 56482951 single base substitution G A upstream_gene_variant ESAD-UK 17 56483802 56483802 single base substitution T C intron_variant ESAD-UK 17 56483802 56483802 single base substitution T C upstream_gene_variant ESAD-UK 17 56483834 56483834 single base substitution C G intron_variant ESAD-UK 17 56483834 56483834 single base substitution C G upstream_gene_variant ESAD-UK 17 56485536 56485536 single base substitution T G intron_variant ESAD-UK 17 56487117 56487117 single base substitution G A intron_variant ESAD-UK 17 56492781 56492781 single base substitution A T downstream_gene_variant ESAD-UK 17 56492781 56492781 single base substitution A T intron_variant ESAD-UK 17 56492781 56492781 single base substitution A T stop_gained L53* 158T>A ESAD-UK 17 56495323 56495323 single base substitution G A upstream_gene_variant ESAD-UK 17 56496057 56496057 insertion of <=200bp - T upstream_gene_variant ESAD-UK 17 56496221 56496221 single base substitution T A upstream_gene_variant ESAD-UK 17 56498848 56498851 deletion of <=200bp AAAT - upstream_gene_variant ESAD-UK 17 56499561 56499561 single base substitution C T upstream_gene_variant ESAD-UK 17 56499616 56499616 single base substitution T A upstream_gene_variant ESAD-UK 17 56499636 56499636 insertion of <=200bp - A upstream_gene_variant ESAD-UK 17 56499849 56499849 single base substitution G A upstream_gene_variant ESCA-CN 17 56435317 56435317 single base substitution G A missense_variant S480L 1439C>T ESCA-CN 17 56435317 56435317 single base substitution G A missense_variant S566L 1697C>T ESCA-CN 17 56435317 56435317 single base substitution G A missense_variant S607L 1820C>T ESCA-CN 17 56440706 56440706 single base substitution T C exon_variant ESCA-CN 17 56440706 56440706 single base substitution T C missense_variant K130R 389A>G ESCA-CN 17 56440706 56440706 single base substitution T C missense_variant K171R 512A>G ESCA-CN 17 56440706 56440706 single base substitution T C missense_variant K44R 131A>G GBM-US 17 56435337 56435337 single base substitution T G missense_variant R473S 1419A>C GBM-US 17 56435337 56435337 single base substitution T G missense_variant R559S 1677A>C GBM-US 17 56435337 56435337 single base substitution T G missense_variant R600S 1800A>C GBM-US 17 56439918 56439918 single base substitution C T downstream_gene_variant GBM-US 17 56439918 56439918 single base substitution C T missense_variant R184H 551G>A GBM-US 17 56439918 56439918 single base substitution C T missense_variant R225H 674G>A GBM-US 17 56439918 56439918 single base substitution C T missense_variant R98H 293G>A KIRC-US 17 56435542 56435542 single base substitution G A downstream_gene_variant KIRC-US 17 56435542 56435542 single base substitution G A missense_variant S405F 1214C>T KIRC-US 17 56435542 56435542 single base substitution G A missense_variant S491F 1472C>T KIRC-US 17 56435542 56435542 single base substitution G A missense_variant S532F 1595C>T KIRC-US 17 56440700 56440700 single base substitution A G exon_variant KIRC-US 17 56440700 56440700 single base substitution A G missense_variant M132T 395T>C KIRC-US 17 56440700 56440700 single base substitution A G missense_variant M173T 518T>C KIRC-US 17 56440700 56440700 single base substitution A G missense_variant M46T 137T>C LGG-US 17 56435582 56435582 single base substitution G A downstream_gene_variant LGG-US 17 56435582 56435582 single base substitution G A stop_gained R392* 1174C>T LGG-US 17 56435582 56435582 single base substitution G A stop_gained R478* 1432C>T LGG-US 17 56435582 56435582 single base substitution G A stop_gained R519* 1555C>T LICA-FR 17 56428647 56428647 single base substitution T A downstream_gene_variant LICA-FR 17 56435311 56435311 single base substitution C A missense_variant R482L 1445G>T LICA-FR 17 56435311 56435311 single base substitution C A missense_variant R568L 1703G>T LICA-FR 17 56435311 56435311 single base substitution C A missense_variant R609L 1826G>T LICA-FR 17 56435526 56435526 single base substitution C A downstream_gene_variant LICA-FR 17 56435526 56435526 single base substitution C A synonymous_variant V410V 1230G>T LICA-FR 17 56435526 56435526 single base substitution C A synonymous_variant V496V 1488G>T LICA-FR 17 56435526 56435526 single base substitution C A synonymous_variant V537V 1611G>T LICA-FR 17 56436105 56436105 single base substitution C A downstream_gene_variant LICA-FR 17 56436105 56436105 single base substitution C A missense_variant Q217H 651G>T LICA-FR 17 56436105 56436105 single base substitution C A missense_variant Q303H 909G>T LICA-FR 17 56436105 56436105 single base substitution C A missense_variant Q344H 1032G>T LICA-FR 17 56440326 56440326 single base substitution T C downstream_gene_variant LICA-FR 17 56440326 56440326 single base substitution T C intron_variant LICA-FR 17 56460938 56460938 insertion of <=200bp - ATA intron_variant LICA-FR 17 56475025 56475025 deletion of <=200bp A - intron_variant LICA-FR 17 56476033 56476033 single base substitution T A intron_variant LICA-FR 17 56477005 56477005 deletion of <=200bp T - intron_variant LICA-FR 17 56492868 56492868 single base substitution C A downstream_gene_variant LICA-FR 17 56492868 56492868 single base substitution C A intron_variant LICA-FR 17 56492868 56492868 single base substitution C A missense_variant G24V 71G>T LICA-FR 17 56496634 56496634 single base substitution G T upstream_gene_variant LICA-FR 17 56496645 56496645 single base substitution G A upstream_gene_variant LIHC-US 17 56435197 56435197 single base substitution A T missense_variant L520H 1559T>A LIHC-US 17 56435197 56435197 single base substitution A T missense_variant L606H 1817T>A LIHC-US 17 56435197 56435197 single base substitution A T missense_variant L647H 1940T>A LIHC-US 17 56435407 56435407 single base substitution T A missense_variant Q450L 1349A>T LIHC-US 17 56435407 56435407 single base substitution T A missense_variant Q536L 1607A>T LIHC-US 17 56435407 56435407 single base substitution T A missense_variant Q577L 1730A>T LIHC-US 17 56437569 56437569 single base substitution C T downstream_gene_variant LIHC-US 17 56437569 56437569 single base substitution C T missense_variant C171Y 512G>A LIHC-US 17 56437569 56437569 single base substitution C T missense_variant C257Y 770G>A LIHC-US 17 56437569 56437569 single base substitution C T missense_variant C298Y 893G>A LINC-JP 17 56424909 56424909 single base substitution G A downstream_gene_variant LINC-JP 17 56429395 56429395 single base substitution C A downstream_gene_variant LINC-JP 17 56432402 56432402 single base substitution G A downstream_gene_variant LINC-JP 17 56432402 56432402 single base substitution G A intron_variant LINC-JP 17 56434551 56434551 single base substitution G A intron_variant LINC-JP 17 56434551 56434551 single base substitution G A synonymous_variant A735A 2205C>T LINC-JP 17 56435671 56435679 deletion of <=200bp CCCTGTAGG - disruptive_inframe_deletion SLQG359R LINC-JP 17 56435671 56435679 deletion of <=200bp CCCTGTAGG - disruptive_inframe_deletion SLQG445R LINC-JP 17 56435671 56435679 deletion of <=200bp CCCTGTAGG - disruptive_inframe_deletion SLQG486R LINC-JP 17 56435671 56435679 deletion of <=200bp CCCTGTAGG - downstream_gene_variant LINC-JP 17 56458502 56458502 single base substitution G C intron_variant LINC-JP 17 56476064 56476064 single base substitution C A intron_variant LINC-JP 17 56494255 56494255 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 17 56494255 56494255 single base substitution T C downstream_gene_variant LINC-JP 17 56494255 56494255 single base substitution T C intron_variant LINC-JP 17 56494255 56494255 single base substitution T C upstream_gene_variant LIRI-JP 17 56424937 56424937 single base substitution G A downstream_gene_variant LIRI-JP 17 56427444 56427444 single base substitution G A downstream_gene_variant LIRI-JP 17 56427835 56427835 single base substitution G C downstream_gene_variant LIRI-JP 17 56428563 56428563 single base substitution T C downstream_gene_variant LIRI-JP 17 56429215 56429215 single base substitution T A downstream_gene_variant LIRI-JP 17 56430615 56430615 single base substitution T C 3_prime_UTR_variant LIRI-JP 17 56430615 56430615 single base substitution T C downstream_gene_variant LIRI-JP 17 56432244 56432244 single base substitution G A 3_prime_UTR_variant LIRI-JP 17 56432244 56432244 single base substitution G A downstream_gene_variant LIRI-JP 17 56432938 56432938 single base substitution C A downstream_gene_variant LIRI-JP 17 56432938 56432938 single base substitution C A intron_variant LIRI-JP 17 56433348 56433348 single base substitution C A downstream_gene_variant LIRI-JP 17 56433348 56433348 single base substitution C A intron_variant LIRI-JP 17 56433386 56433386 single base substitution A G downstream_gene_variant LIRI-JP 17 56433386 56433386 single base substitution A G intron_variant LIRI-JP 17 56436490 56436490 single base substitution T A downstream_gene_variant LIRI-JP 17 56436490 56436490 single base substitution T A intron_variant LIRI-JP 17 56444274 56444274 single base substitution C A intron_variant LIRI-JP 17 56444274 56444274 single base substitution C A upstream_gene_variant LIRI-JP 17 56447372 56447372 single base substitution C A intron_variant LIRI-JP 17 56447412 56447412 single base substitution A C intron_variant LIRI-JP 17 56448293 56448293 deletion of <=200bp G - 5_prime_UTR_variant LIRI-JP 17 56448293 56448293 deletion of <=200bp G - frameshift_variant P118 LIRI-JP 17 56448293 56448293 deletion of <=200bp G - intron_variant LIRI-JP 17 56449018 56449018 single base substitution A T intron_variant LIRI-JP 17 56449885 56449885 deletion of <=200bp T - intron_variant LIRI-JP 17 56452013 56452013 single base substitution C T intron_variant LIRI-JP 17 56452449 56452449 single base substitution T A intron_variant LIRI-JP 17 56452973 56452973 single base substitution T C intron_variant LIRI-JP 17 56452997 56452997 single base substitution A C intron_variant LIRI-JP 17 56453711 56453711 single base substitution G C intron_variant LIRI-JP 17 56455119 56455119 single base substitution C T intron_variant LIRI-JP 17 56455730 56455730 single base substitution T C intron_variant LIRI-JP 17 56456311 56456311 single base substitution G C intron_variant LIRI-JP 17 56457312 56457312 insertion of <=200bp - A intron_variant LIRI-JP 17 56458086 56458086 single base substitution T C intron_variant LIRI-JP 17 56458477 56458477 single base substitution G A intron_variant LIRI-JP 17 56460149 56460149 single base substitution A C intron_variant LIRI-JP 17 56460389 56460389 single base substitution T A intron_variant LIRI-JP 17 56461526 56461526 single base substitution G A intron_variant LIRI-JP 17 56464349 56464349 single base substitution C T intron_variant LIRI-JP 17 56466529 56466529 single base substitution A G intron_variant LIRI-JP 17 56468875 56468875 single base substitution C G intron_variant LIRI-JP 17 56469478 56469478 single base substitution T C intron_variant LIRI-JP 17 56470788 56470788 single base substitution G C intron_variant LIRI-JP 17 56471555 56471555 single base substitution A C intron_variant LIRI-JP 17 56472819 56472819 single base substitution T C intron_variant LIRI-JP 17 56475490 56475490 single base substitution T A intron_variant LIRI-JP 17 56477822 56477822 single base substitution T C intron_variant LIRI-JP 17 56479956 56479956 single base substitution C T intron_variant LIRI-JP 17 56486055 56486055 single base substitution C A intron_variant LIRI-JP 17 56487652 56487652 single base substitution T A intron_variant LIRI-JP 17 56493641 56493641 single base substitution A C 5_prime_UTR_variant LIRI-JP 17 56493641 56493641 single base substitution A C downstream_gene_variant LIRI-JP 17 56493641 56493641 single base substitution A C intron_variant LIRI-JP 17 56493641 56493641 single base substitution A C upstream_gene_variant LIRI-JP 17 56493901 56493901 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 17 56493901 56493901 single base substitution C A downstream_gene_variant LIRI-JP 17 56493901 56493901 single base substitution C A intron_variant LIRI-JP 17 56493901 56493901 single base substitution C A upstream_gene_variant LIRI-JP 17 56494797 56494797 single base substitution A C 5_prime_UTR_variant LIRI-JP 17 56494797 56494797 single base substitution A C exon_variant LIRI-JP 17 56494797 56494797 single base substitution A C upstream_gene_variant LIRI-JP 17 56495071 56495071 single base substitution C G upstream_gene_variant LIRI-JP 17 56495580 56495580 single base substitution C T upstream_gene_variant LIRI-JP 17 56496675 56496675 single base substitution A G upstream_gene_variant LIRI-JP 17 56497117 56497117 single base substitution G C upstream_gene_variant LIRI-JP 17 56499465 56499465 single base substitution C T upstream_gene_variant LUSC-KR 17 56430302 56430302 single base substitution C G 3_prime_UTR_variant LUSC-KR 17 56430302 56430302 single base substitution C G downstream_gene_variant LUSC-KR 17 56430452 56430452 single base substitution T C 3_prime_UTR_variant LUSC-KR 17 56430452 56430452 single base substitution T C downstream_gene_variant LUSC-KR 17 56434031 56434031 single base substitution C G downstream_gene_variant LUSC-KR 17 56434031 56434031 single base substitution C G intron_variant LUSC-KR 17 56441843 56441843 single base substitution G A intron_variant LUSC-KR 17 56441843 56441843 single base substitution G A upstream_gene_variant LUSC-KR 17 56443961 56443961 single base substitution T C intron_variant LUSC-KR 17 56443961 56443961 single base substitution T C upstream_gene_variant LUSC-KR 17 56447392 56447392 single base substitution G C intron_variant LUSC-KR 17 56448732 56448732 single base substitution C T intron_variant LUSC-KR 17 56451979 56451979 single base substitution C T intron_variant LUSC-KR 17 56458754 56458754 single base substitution T C intron_variant LUSC-KR 17 56463141 56463141 single base substitution A G intron_variant LUSC-KR 17 56467912 56467912 single base substitution T C intron_variant LUSC-KR 17 56470788 56470788 single base substitution G A intron_variant LUSC-KR 17 56473081 56473081 single base substitution G A intron_variant LUSC-KR 17 56480952 56480952 single base substitution G C intron_variant LUSC-KR 17 56480952 56480952 single base substitution G C upstream_gene_variant LUSC-KR 17 56482457 56482457 single base substitution G T intron_variant LUSC-KR 17 56482457 56482457 single base substitution G T upstream_gene_variant LUSC-KR 17 56486041 56486041 single base substitution C A intron_variant LUSC-KR 17 56495003 56495003 single base substitution G A upstream_gene_variant LUSC-KR 17 56496356 56496356 single base substitution A C upstream_gene_variant LUSC-KR 17 56496385 56496385 single base substitution G T upstream_gene_variant LUSC-KR 17 56497780 56497780 single base substitution T C upstream_gene_variant LUSC-US 17 56434896 56434896 single base substitution C T stop_gained W620* 1860G>A LUSC-US 17 56434896 56434896 single base substitution C T stop_gained W706* 2118G>A LUSC-US 17 56434896 56434896 single base substitution C T stop_gained W747* 2241G>A LUSC-US 17 56435050 56435050 single base substitution G A missense_variant A569V 1706C>T LUSC-US 17 56435050 56435050 single base substitution G A missense_variant A655V 1964C>T LUSC-US 17 56435050 56435050 single base substitution G A missense_variant A696V 2087C>T LUSC-US 17 56435317 56435317 single base substitution G A missense_variant S480L 1439C>T LUSC-US 17 56435317 56435317 single base substitution G A missense_variant S566L 1697C>T LUSC-US 17 56435317 56435317 single base substitution G A missense_variant S607L 1820C>T LUSC-US 17 56435697 56435697 single base substitution G A downstream_gene_variant LUSC-US 17 56435697 56435697 single base substitution G A synonymous_variant V353V 1059C>T LUSC-US 17 56435697 56435697 single base substitution G A synonymous_variant V439V 1317C>T LUSC-US 17 56435697 56435697 single base substitution G A synonymous_variant V480V 1440C>T LUSC-US 17 56438267 56438267 single base substitution C T downstream_gene_variant LUSC-US 17 56438267 56438267 single base substitution C T synonymous_variant Q115Q 345G>A LUSC-US 17 56438267 56438267 single base substitution C T synonymous_variant Q201Q 603G>A LUSC-US 17 56438267 56438267 single base substitution C T synonymous_variant Q242Q 726G>A MALY-DE 17 56425005 56425005 single base substitution T A downstream_gene_variant MALY-DE 17 56429583 56429583 single base substitution C A downstream_gene_variant MALY-DE 17 56429601 56429601 single base substitution G T downstream_gene_variant MALY-DE 17 56430034 56430034 single base substitution T G 3_prime_UTR_variant MALY-DE 17 56430034 56430034 single base substitution T G downstream_gene_variant MALY-DE 17 56433398 56433398 single base substitution G A downstream_gene_variant MALY-DE 17 56433398 56433398 single base substitution G A intron_variant MALY-DE 17 56441963 56441963 single base substitution G A intron_variant MALY-DE 17 56441963 56441963 single base substitution G A upstream_gene_variant MALY-DE 17 56451084 56451084 single base substitution T C intron_variant MALY-DE 17 56456618 56456618 single base substitution C A intron_variant MALY-DE 17 56461098 56461098 single base substitution C T intron_variant MALY-DE 17 56466376 56466376 insertion of <=200bp - A intron_variant MALY-DE 17 56471770 56471770 single base substitution A C intron_variant MALY-DE 17 56472596 56472596 single base substitution C T intron_variant MALY-DE 17 56476988 56476988 single base substitution T C intron_variant MALY-DE 17 56480601 56480601 single base substitution G A intron_variant MALY-DE 17 56480601 56480601 single base substitution G A upstream_gene_variant MALY-DE 17 56484281 56484281 single base substitution G A intron_variant MALY-DE 17 56484281 56484281 single base substitution G A upstream_gene_variant MALY-DE 17 56487374 56487374 single base substitution C T intron_variant MALY-DE 17 56493278 56493278 single base substitution C T 5_prime_UTR_variant MALY-DE 17 56493278 56493278 single base substitution C T downstream_gene_variant MALY-DE 17 56493278 56493278 single base substitution C T intron_variant MALY-DE 17 56493278 56493278 single base substitution C T upstream_gene_variant MELA-AU 17 56425956 56425956 single base substitution G T downstream_gene_variant MELA-AU 17 56426309 56426309 single base substitution A T downstream_gene_variant MELA-AU 17 56426859 56426859 single base substitution G A downstream_gene_variant MELA-AU 17 56427071 56427071 single base substitution G A downstream_gene_variant MELA-AU 17 56427247 56427247 single base substitution G A downstream_gene_variant MELA-AU 17 56427365 56427365 single base substitution C T downstream_gene_variant MELA-AU 17 56428653 56428653 single base substitution C T downstream_gene_variant MELA-AU 17 56428884 56428884 single base substitution A C downstream_gene_variant MELA-AU 17 56429601 56429601 single base substitution G A downstream_gene_variant MELA-AU 17 56429609 56429609 single base substitution C T downstream_gene_variant MELA-AU 17 56429963 56429963 single base substitution C T 3_prime_UTR_variant MELA-AU 17 56429963 56429963 single base substitution C T downstream_gene_variant MELA-AU 17 56430408 56430408 single base substitution C T 3_prime_UTR_variant MELA-AU 17 56430408 56430408 single base substitution C T downstream_gene_variant MELA-AU 17 56431179 56431179 single base substitution G A 3_prime_UTR_variant MELA-AU 17 56431179 56431179 single base substitution G A downstream_gene_variant MELA-AU 17 56431924 56431924 single base substitution G A 3_prime_UTR_variant MELA-AU 17 56431924 56431924 single base substitution G A downstream_gene_variant MELA-AU 17 56432254 56432254 single base substitution G A 3_prime_UTR_variant MELA-AU 17 56432254 56432254 single base substitution G A downstream_gene_variant MELA-AU 17 56432278 56432278 single base substitution C T 3_prime_UTR_variant MELA-AU 17 56432278 56432278 single base substitution C T downstream_gene_variant MELA-AU 17 56432849 56432849 single base substitution A T downstream_gene_variant MELA-AU 17 56432849 56432849 single base substitution A T intron_variant MELA-AU 17 56433552 56433552 single base substitution G A downstream_gene_variant MELA-AU 17 56433552 56433552 single base substitution G A intron_variant MELA-AU 17 56434771 56434771 single base substitution G A intron_variant MELA-AU 17 56434771 56434771 single base substitution G A missense_variant S662L 1985C>T MELA-AU 17 56434840 56434840 single base substitution G A missense_variant S639L 1916C>T MELA-AU 17 56434840 56434840 single base substitution G A missense_variant S725L 2174C>T MELA-AU 17 56434840 56434840 single base substitution G A missense_variant S766L 2297C>T MELA-AU 17 56435058 56435058 single base substitution G A synonymous_variant S566S 1698C>T MELA-AU 17 56435058 56435058 single base substitution G A synonymous_variant S652S 1956C>T MELA-AU 17 56435058 56435058 single base substitution G A synonymous_variant S693S 2079C>T MELA-AU 17 56435092 56435092 single base substitution G A missense_variant P555L 1664C>T MELA-AU 17 56435092 56435092 single base substitution G A missense_variant P641L 1922C>T MELA-AU 17 56435092 56435092 single base substitution G A missense_variant P682L 2045C>T MELA-AU 17 56435093 56435093 single base substitution G A missense_variant P555S 1663C>T MELA-AU 17 56435093 56435093 single base substitution G A missense_variant P641S 1921C>T MELA-AU 17 56435093 56435093 single base substitution G A missense_variant P682S 2044C>T MELA-AU 17 56435110 56435110 single base substitution G A missense_variant P549L 1646C>T MELA-AU 17 56435110 56435110 single base substitution G A missense_variant P635L 1904C>T MELA-AU 17 56435110 56435110 single base substitution G A missense_variant P676L 2027C>T MELA-AU 17 56435154 56435154 single base substitution G T synonymous_variant S534S 1602C>A MELA-AU 17 56435154 56435154 single base substitution G T synonymous_variant S620S 1860C>A MELA-AU 17 56435154 56435154 single base substitution G T synonymous_variant S661S 1983C>A MELA-AU 17 56435322 56435322 single base substitution G A synonymous_variant A478A 1434C>T MELA-AU 17 56435322 56435322 single base substitution G A synonymous_variant A564A 1692C>T MELA-AU 17 56435322 56435322 single base substitution G A synonymous_variant A605A 1815C>T MELA-AU 17 56435456 56435456 single base substitution G A missense_variant R434W 1300C>T MELA-AU 17 56435456 56435456 single base substitution G A missense_variant R520W 1558C>T MELA-AU 17 56435456 56435456 single base substitution G A missense_variant R561W 1681C>T MELA-AU 17 56435541 56435541 single base substitution G A downstream_gene_variant MELA-AU 17 56435541 56435541 single base substitution G A synonymous_variant S405S 1215C>T MELA-AU 17 56435541 56435541 single base substitution G A synonymous_variant S491S 1473C>T MELA-AU 17 56435541 56435541 single base substitution G A synonymous_variant S532S 1596C>T MELA-AU 17 56435835 56435836 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 56435835 56435836 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P307L 920CC>TT MELA-AU 17 56435835 56435836 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P393L 1178CC>TT MELA-AU 17 56435835 56435836 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P434L 1301CC>TT MELA-AU 17 56436016 56436016 single base substitution G A downstream_gene_variant MELA-AU 17 56436016 56436016 single base substitution G A missense_variant P247L 740C>T MELA-AU 17 56436016 56436016 single base substitution G A missense_variant P333L 998C>T MELA-AU 17 56436016 56436016 single base substitution G A missense_variant P374L 1121C>T MELA-AU 17 56436183 56436183 single base substitution C T downstream_gene_variant MELA-AU 17 56436183 56436183 single base substitution C T splice_region_variant MELA-AU 17 56436306 56436306 single base substitution G A downstream_gene_variant MELA-AU 17 56436306 56436306 single base substitution G A intron_variant MELA-AU 17 56436307 56436307 single base substitution G A downstream_gene_variant MELA-AU 17 56436307 56436307 single base substitution G A intron_variant MELA-AU 17 56437500 56437500 single base substitution C G downstream_gene_variant MELA-AU 17 56437500 56437500 single base substitution C G intron_variant MELA-AU 17 56438738 56438738 single base substitution C T downstream_gene_variant MELA-AU 17 56438738 56438738 single base substitution C T intron_variant MELA-AU 17 56438954 56438954 single base substitution T A downstream_gene_variant MELA-AU 17 56438954 56438954 single base substitution T A intron_variant MELA-AU 17 56439472 56439472 single base substitution A T downstream_gene_variant MELA-AU 17 56439472 56439472 single base substitution A T intron_variant MELA-AU 17 56439727 56439727 single base substitution G A downstream_gene_variant MELA-AU 17 56439727 56439727 single base substitution G A intron_variant MELA-AU 17 56440290 56440290 single base substitution C T downstream_gene_variant MELA-AU 17 56440290 56440290 single base substitution C T intron_variant MELA-AU 17 56440307 56440307 single base substitution G A downstream_gene_variant MELA-AU 17 56440307 56440307 single base substitution G A intron_variant MELA-AU 17 56441602 56441603 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 56441602 56441603 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 56441859 56441859 single base substitution G A intron_variant MELA-AU 17 56441859 56441859 single base substitution G A upstream_gene_variant MELA-AU 17 56441984 56441984 single base substitution C T intron_variant MELA-AU 17 56441984 56441984 single base substitution C T upstream_gene_variant MELA-AU 17 56442606 56442606 single base substitution G C intron_variant MELA-AU 17 56442606 56442606 single base substitution G C upstream_gene_variant MELA-AU 17 56442606 56442606 single base substitution G T intron_variant MELA-AU 17 56442606 56442606 single base substitution G T upstream_gene_variant MELA-AU 17 56442619 56442619 single base substitution G A intron_variant MELA-AU 17 56442619 56442619 single base substitution G A upstream_gene_variant MELA-AU 17 56443096 56443096 single base substitution G A intron_variant MELA-AU 17 56443096 56443096 single base substitution G A upstream_gene_variant MELA-AU 17 56443216 56443217 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 56443216 56443217 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 56444082 56444082 single base substitution G A intron_variant MELA-AU 17 56444082 56444082 single base substitution G A upstream_gene_variant MELA-AU 17 56444630 56444630 single base substitution G A intron_variant MELA-AU 17 56444630 56444630 single base substitution G A upstream_gene_variant MELA-AU 17 56444955 56444955 single base substitution G A intron_variant MELA-AU 17 56444955 56444955 single base substitution G A upstream_gene_variant MELA-AU 17 56445067 56445067 single base substitution G A intron_variant MELA-AU 17 56445067 56445067 single base substitution G A upstream_gene_variant MELA-AU 17 56445078 56445078 single base substitution G A intron_variant MELA-AU 17 56445078 56445078 single base substitution G A upstream_gene_variant MELA-AU 17 56446202 56446202 single base substitution A T intron_variant MELA-AU 17 56446335 56446335 single base substitution G A intron_variant MELA-AU 17 56446436 56446436 single base substitution A G intron_variant MELA-AU 17 56446452 56446452 single base substitution A G intron_variant MELA-AU 17 56446497 56446498 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 56446814 56446814 single base substitution C T intron_variant MELA-AU 17 56446823 56446823 single base substitution G A intron_variant MELA-AU 17 56447030 56447030 single base substitution C T intron_variant MELA-AU 17 56447054 56447054 single base substitution A G intron_variant MELA-AU 17 56447315 56447315 single base substitution G A intron_variant MELA-AU 17 56448160 56448160 single base substitution G A intron_variant MELA-AU 17 56448694 56448694 single base substitution C T intron_variant MELA-AU 17 56448746 56448746 single base substitution C T intron_variant MELA-AU 17 56449100 56449100 single base substitution G A intron_variant MELA-AU 17 56450172 56450172 single base substitution G A intron_variant MELA-AU 17 56450217 56450217 single base substitution G A intron_variant MELA-AU 17 56450771 56450771 single base substitution C T intron_variant MELA-AU 17 56450787 56450787 single base substitution G A intron_variant MELA-AU 17 56452502 56452502 single base substitution G A intron_variant MELA-AU 17 56453274 56453274 single base substitution C T intron_variant MELA-AU 17 56453309 56453310 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 56453480 56453480 single base substitution G A intron_variant MELA-AU 17 56453530 56453530 single base substitution C T intron_variant MELA-AU 17 56453711 56453711 single base substitution G A intron_variant MELA-AU 17 56453854 56453854 single base substitution T C intron_variant MELA-AU 17 56454070 56454070 single base substitution G A intron_variant MELA-AU 17 56454355 56454355 single base substitution G A intron_variant MELA-AU 17 56455301 56455301 single base substitution A G intron_variant MELA-AU 17 56455363 56455363 single base substitution C T intron_variant MELA-AU 17 56455956 56455956 single base substitution T A intron_variant MELA-AU 17 56457417 56457417 single base substitution C T intron_variant MELA-AU 17 56458757 56458757 single base substitution G A intron_variant MELA-AU 17 56459354 56459355 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 56460500 56460500 single base substitution G A intron_variant MELA-AU 17 56461781 56461781 single base substitution G A intron_variant MELA-AU 17 56462212 56462212 single base substitution G A intron_variant MELA-AU 17 56462551 56462551 single base substitution G A intron_variant MELA-AU 17 56463317 56463317 single base substitution A T intron_variant MELA-AU 17 56464013 56464013 single base substitution G A intron_variant MELA-AU 17 56465116 56465116 single base substitution A T intron_variant MELA-AU 17 56465950 56465950 single base substitution G A intron_variant MELA-AU 17 56466159 56466159 single base substitution G A intron_variant MELA-AU 17 56466600 56466601 multiple base substitution (>=2bp and <=200bp) GT AC intron_variant MELA-AU 17 56466731 56466731 single base substitution G A intron_variant MELA-AU 17 56466732 56466732 single base substitution G A intron_variant MELA-AU 17 56466923 56466923 single base substitution A G intron_variant MELA-AU 17 56467553 56467553 single base substitution A G intron_variant MELA-AU 17 56467591 56467591 single base substitution C T intron_variant MELA-AU 17 56468874 56468874 single base substitution G A intron_variant MELA-AU 17 56469824 56469824 single base substitution G A intron_variant MELA-AU 17 56470392 56470392 single base substitution A C intron_variant MELA-AU 17 56470848 56470848 single base substitution C T intron_variant MELA-AU 17 56470922 56470922 single base substitution G A intron_variant MELA-AU 17 56472930 56472930 single base substitution C T intron_variant MELA-AU 17 56473632 56473632 single base substitution G A intron_variant MELA-AU 17 56474493 56474493 single base substitution G A intron_variant MELA-AU 17 56474813 56474813 single base substitution G A intron_variant MELA-AU 17 56475443 56475443 single base substitution A T intron_variant MELA-AU 17 56476587 56476587 single base substitution A T intron_variant MELA-AU 17 56476711 56476711 single base substitution T A intron_variant MELA-AU 17 56477218 56477218 single base substitution G A intron_variant MELA-AU 17 56477717 56477717 single base substitution G A intron_variant MELA-AU 17 56478367 56478367 single base substitution C T intron_variant MELA-AU 17 56479665 56479665 single base substitution G A intron_variant MELA-AU 17 56480233 56480233 single base substitution C T intron_variant MELA-AU 17 56480233 56480233 single base substitution C T upstream_gene_variant MELA-AU 17 56480571 56480571 single base substitution T A intron_variant MELA-AU 17 56480571 56480571 single base substitution T A upstream_gene_variant MELA-AU 17 56481469 56481469 single base substitution G A intron_variant MELA-AU 17 56481469 56481469 single base substitution G A upstream_gene_variant MELA-AU 17 56482105 56482105 single base substitution G A intron_variant MELA-AU 17 56482105 56482105 single base substitution G A upstream_gene_variant MELA-AU 17 56482532 56482532 single base substitution G A intron_variant MELA-AU 17 56482532 56482532 single base substitution G A upstream_gene_variant MELA-AU 17 56482533 56482533 single base substitution G A intron_variant MELA-AU 17 56482533 56482533 single base substitution G A upstream_gene_variant MELA-AU 17 56483127 56483127 single base substitution A G intron_variant MELA-AU 17 56483127 56483127 single base substitution A G upstream_gene_variant MELA-AU 17 56483129 56483129 single base substitution G A intron_variant MELA-AU 17 56483129 56483129 single base substitution G A upstream_gene_variant MELA-AU 17 56484009 56484009 single base substitution G A intron_variant MELA-AU 17 56484009 56484009 single base substitution G A upstream_gene_variant MELA-AU 17 56484465 56484465 single base substitution G A intron_variant MELA-AU 17 56484465 56484465 single base substitution G A upstream_gene_variant MELA-AU 17 56485289 56485289 single base substitution G A intron_variant MELA-AU 17 56486578 56486578 single base substitution C T intron_variant MELA-AU 17 56486806 56486806 single base substitution G A intron_variant MELA-AU 17 56490029 56490029 single base substitution C T downstream_gene_variant MELA-AU 17 56490029 56490029 single base substitution C T intron_variant MELA-AU 17 56493341 56493341 single base substitution G A 5_prime_UTR_variant MELA-AU 17 56493341 56493341 single base substitution G A downstream_gene_variant MELA-AU 17 56493341 56493341 single base substitution G A intron_variant MELA-AU 17 56493341 56493341 single base substitution G A upstream_gene_variant MELA-AU 17 56493524 56493524 single base substitution C T 5_prime_UTR_variant MELA-AU 17 56493524 56493524 single base substitution C T downstream_gene_variant MELA-AU 17 56493524 56493524 single base substitution C T intron_variant MELA-AU 17 56493524 56493524 single base substitution C T upstream_gene_variant MELA-AU 17 56494082 56494082 single base substitution A T 5_prime_UTR_variant MELA-AU 17 56494082 56494082 single base substitution A T downstream_gene_variant MELA-AU 17 56494082 56494082 single base substitution A T intron_variant MELA-AU 17 56494082 56494082 single base substitution A T upstream_gene_variant MELA-AU 17 56495071 56495071 single base substitution C T upstream_gene_variant MELA-AU 17 56495109 56495110 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 56495169 56495169 single base substitution A T upstream_gene_variant MELA-AU 17 56495295 56495295 single base substitution G A upstream_gene_variant MELA-AU 17 56495950 56495950 single base substitution A C upstream_gene_variant MELA-AU 17 56496396 56496396 single base substitution C T upstream_gene_variant MELA-AU 17 56496396 56496397 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 56496870 56496870 single base substitution T G upstream_gene_variant MELA-AU 17 56497447 56497447 single base substitution C T upstream_gene_variant MELA-AU 17 56497543 56497543 single base substitution C T upstream_gene_variant MELA-AU 17 56498137 56498138 multiple base substitution (>=2bp and <=200bp) GA AT upstream_gene_variant MELA-AU 17 56498594 56498594 deletion of <=200bp A - upstream_gene_variant ORCA-IN 17 56436989 56436989 single base substitution T A downstream_gene_variant ORCA-IN 17 56436989 56436989 single base substitution T A intron_variant ORCA-IN 17 56478090 56478090 single base substitution T G intron_variant ORCA-IN 17 56486290 56486290 single base substitution C G intron_variant OV-AU 17 56427272 56427272 single base substitution G C downstream_gene_variant OV-AU 17 56432254 56432254 single base substitution G A 3_prime_UTR_variant OV-AU 17 56432254 56432254 single base substitution G A downstream_gene_variant OV-AU 17 56437531 56437531 deletion of <=200bp G - downstream_gene_variant OV-AU 17 56437531 56437531 deletion of <=200bp G - frameshift_variant L184 OV-AU 17 56437531 56437531 deletion of <=200bp G - frameshift_variant L270 OV-AU 17 56437531 56437531 deletion of <=200bp G - frameshift_variant L311 OV-AU 17 56439820 56439820 single base substitution T A downstream_gene_variant OV-AU 17 56439820 56439820 single base substitution T A intron_variant OV-AU 17 56444617 56444617 single base substitution C A intron_variant OV-AU 17 56444617 56444617 single base substitution C A upstream_gene_variant OV-AU 17 56446694 56446694 single base substitution G T intron_variant OV-AU 17 56453952 56453952 single base substitution C A intron_variant OV-AU 17 56458753 56458753 single base substitution C A intron_variant OV-AU 17 56477666 56477666 single base substitution T A intron_variant OV-AU 17 56478634 56478634 single base substitution G A intron_variant OV-AU 17 56479788 56479788 single base substitution C G intron_variant OV-AU 17 56497433 56497433 single base substitution A T upstream_gene_variant PACA-AU 17 56428518 56428518 single base substitution C T downstream_gene_variant PACA-AU 17 56434872 56434872 single base substitution C A missense_variant R628S 1884G>T PACA-AU 17 56434872 56434872 single base substitution C A missense_variant R714S 2142G>T PACA-AU 17 56434872 56434872 single base substitution C A missense_variant R755S 2265G>T PACA-AU 17 56435161 56435161 deletion of <=200bp C - frameshift_variant G532 PACA-AU 17 56435161 56435161 deletion of <=200bp C - frameshift_variant G618 PACA-AU 17 56435161 56435161 deletion of <=200bp C - frameshift_variant G659 PACA-AU 17 56435669 56435669 insertion of <=200bp - C downstream_gene_variant PACA-AU 17 56435669 56435669 insertion of <=200bp - C frameshift_variant V363G? PACA-AU 17 56435669 56435669 insertion of <=200bp - C frameshift_variant V449G? PACA-AU 17 56435669 56435669 insertion of <=200bp - C frameshift_variant V490G? PACA-AU 17 56436091 56436103 deletion of <=200bp GCATGGCCGGGAT - downstream_gene_variant PACA-AU 17 56436091 56436103 deletion of <=200bp GCATGGCCGGGAT - frameshift_variant HPGHA218 PACA-AU 17 56436091 56436103 deletion of <=200bp GCATGGCCGGGAT - frameshift_variant HPGHA304 PACA-AU 17 56436091 56436103 deletion of <=200bp GCATGGCCGGGAT - frameshift_variant HPGHA345 PACA-AU 17 56436149 56436149 single base substitution G A downstream_gene_variant PACA-AU 17 56436149 56436149 single base substitution G A stop_gained R203* 607C>T PACA-AU 17 56436149 56436149 single base substitution G A stop_gained R289* 865C>T PACA-AU 17 56436149 56436149 single base substitution G A stop_gained R330* 988C>T PACA-AU 17 56437536 56437536 single base substitution C A downstream_gene_variant PACA-AU 17 56437536 56437536 single base substitution C A missense_variant C182F 545G>T PACA-AU 17 56437536 56437536 single base substitution C A missense_variant C268F 803G>T PACA-AU 17 56437536 56437536 single base substitution C A missense_variant C309F 926G>T PACA-AU 17 56437554 56437554 insertion of <=200bp - A downstream_gene_variant PACA-AU 17 56437554 56437554 insertion of <=200bp - A frameshift_variant L176F? PACA-AU 17 56437554 56437554 insertion of <=200bp - A frameshift_variant L262F? PACA-AU 17 56437554 56437554 insertion of <=200bp - A frameshift_variant L303F? PACA-AU 17 56437603 56437603 insertion of <=200bp - C downstream_gene_variant PACA-AU 17 56437603 56437603 insertion of <=200bp - C frameshift_variant V160G? PACA-AU 17 56437603 56437603 insertion of <=200bp - C frameshift_variant V246G? PACA-AU 17 56437603 56437603 insertion of <=200bp - C frameshift_variant V287G? PACA-AU 17 56437606 56437606 single base substitution G A downstream_gene_variant PACA-AU 17 56437606 56437606 single base substitution G A missense_variant R159W 475C>T PACA-AU 17 56437606 56437606 single base substitution G A missense_variant R245W 733C>T PACA-AU 17 56437606 56437606 single base substitution G A missense_variant R286W 856C>T PACA-AU 17 56438206 56438207 deletion of <=200bp CT - downstream_gene_variant PACA-AU 17 56438206 56438207 deletion of <=200bp CT - frameshift_variant SG135 PACA-AU 17 56438206 56438207 deletion of <=200bp CT - frameshift_variant SG221 PACA-AU 17 56438206 56438207 deletion of <=200bp CT - frameshift_variant SG262 PACA-AU 17 56438497 56438497 single base substitution C G downstream_gene_variant PACA-AU 17 56438497 56438497 single base substitution C G intron_variant PACA-AU 17 56439943 56439943 single base substitution C T downstream_gene_variant PACA-AU 17 56439943 56439943 single base substitution C T missense_variant V176M 526G>A PACA-AU 17 56439943 56439943 single base substitution C T missense_variant V217M 649G>A PACA-AU 17 56439943 56439943 single base substitution C T missense_variant V90M 268G>A PACA-AU 17 56440721 56440721 single base substitution C A exon_variant PACA-AU 17 56440721 56440721 single base substitution C A missense_variant G125V 374G>T PACA-AU 17 56440721 56440721 single base substitution C A missense_variant G166V 497G>T PACA-AU 17 56440721 56440721 single base substitution C A missense_variant G39V 116G>T PACA-AU 17 56440730 56440730 insertion of <=200bp - A exon_variant PACA-AU 17 56440730 56440730 insertion of <=200bp - A frameshift_variant L122F? PACA-AU 17 56440730 56440730 insertion of <=200bp - A frameshift_variant L163F? PACA-AU 17 56440730 56440730 insertion of <=200bp - A frameshift_variant L36F? PACA-AU 17 56440741 56440741 single base substitution C T exon_variant PACA-AU 17 56440741 56440741 single base substitution C T stop_gained W118* 354G>A PACA-AU 17 56440741 56440741 single base substitution C T stop_gained W159* 477G>A PACA-AU 17 56440741 56440741 single base substitution C T stop_gained W32* 96G>A PACA-AU 17 56440904 56440904 single base substitution G A exon_variant PACA-AU 17 56440904 56440904 single base substitution G A stop_gained R104* 310C>T PACA-AU 17 56440904 56440904 single base substitution G A stop_gained R145* 433C>T PACA-AU 17 56440904 56440904 single base substitution G A stop_gained R18* 52C>T PACA-AU 17 56440943 56440943 single base substitution G A exon_variant PACA-AU 17 56440943 56440943 single base substitution G A stop_gained R132* 394C>T PACA-AU 17 56440943 56440943 single base substitution G A stop_gained R5* 13C>T PACA-AU 17 56440943 56440943 single base substitution G A stop_gained R91* 271C>T PACA-AU 17 56441658 56441658 single base substitution G A intron_variant PACA-AU 17 56441658 56441658 single base substitution G A upstream_gene_variant PACA-AU 17 56446969 56446969 single base substitution A G intron_variant PACA-AU 17 56448068 56448068 single base substitution C T intron_variant PACA-AU 17 56457184 56457184 single base substitution T A intron_variant PACA-AU 17 56460507 56460507 single base substitution T C intron_variant PACA-AU 17 56460595 56460595 single base substitution T C intron_variant PACA-AU 17 56461040 56461040 single base substitution G A intron_variant PACA-AU 17 56461864 56461864 single base substitution G T intron_variant PACA-AU 17 56465394 56465394 single base substitution G A intron_variant PACA-AU 17 56474177 56474177 single base substitution T G intron_variant PACA-AU 17 56474470 56474470 single base substitution A C intron_variant PACA-AU 17 56480360 56480360 single base substitution T G intron_variant PACA-AU 17 56480360 56480360 single base substitution T G upstream_gene_variant PACA-AU 17 56485844 56485844 insertion of <=200bp - A intron_variant PACA-AU 17 56488326 56488326 single base substitution G C intron_variant PACA-AU 17 56492886 56492886 insertion of <=200bp - TGAT downstream_gene_variant PACA-AU 17 56492886 56492886 insertion of <=200bp - TGAT frameshift_variant M18IS? PACA-AU 17 56492886 56492886 insertion of <=200bp - TGAT intron_variant PACA-AU 17 56492890 56492890 single base substitution G T downstream_gene_variant PACA-AU 17 56492890 56492890 single base substitution G T intron_variant PACA-AU 17 56492890 56492890 single base substitution G T missense_variant L17M 49C>A PACA-AU 17 56492895 56492917 deletion of <=200bp CAGGGCCAGAGGGCAGCCAGCTG - downstream_gene_variant PACA-AU 17 56492895 56492917 deletion of <=200bp CAGGGCCAGAGGGCAGCCAGCTG - frameshift_variant QLAALWPW8 PACA-AU 17 56492895 56492917 deletion of <=200bp CAGGGCCAGAGGGCAGCCAGCTG - intron_variant PACA-AU 17 56492917 56492917 single base substitution G A downstream_gene_variant PACA-AU 17 56492917 56492917 single base substitution G A intron_variant PACA-AU 17 56492917 56492917 single base substitution G A stop_gained Q8* 22C>T PACA-AU 17 56494344 56494344 single base substitution G C 5_prime_UTR_variant PACA-AU 17 56494344 56494344 single base substitution G C downstream_gene_variant PACA-AU 17 56494344 56494344 single base substitution G C intron_variant PACA-AU 17 56494344 56494344 single base substitution G C upstream_gene_variant PACA-AU 17 56496689 56496689 single base substitution T A upstream_gene_variant PACA-AU 17 56498651 56498651 single base substitution T A upstream_gene_variant PACA-CA 17 56425638 56425638 single base substitution A G downstream_gene_variant PACA-CA 17 56428942 56428942 single base substitution C A downstream_gene_variant PACA-CA 17 56430093 56430119 deletion of <=200bp CTACGGCGGAAAAAAATGCGTATTTAT - 3_prime_UTR_variant PACA-CA 17 56430093 56430119 deletion of <=200bp CTACGGCGGAAAAAAATGCGTATTTAT - downstream_gene_variant PACA-CA 17 56435501 56435501 insertion of <=200bp - G frameshift_variant S419T? PACA-CA 17 56435501 56435501 insertion of <=200bp - G frameshift_variant S505T? PACA-CA 17 56435501 56435501 insertion of <=200bp - G frameshift_variant S546T? PACA-CA 17 56435712 56435712 deletion of <=200bp G - downstream_gene_variant PACA-CA 17 56435712 56435712 deletion of <=200bp G - frameshift_variant S348 PACA-CA 17 56435712 56435712 deletion of <=200bp G - frameshift_variant S434 PACA-CA 17 56435712 56435712 deletion of <=200bp G - frameshift_variant S475 PACA-CA 17 56435717 56435717 single base substitution A G downstream_gene_variant PACA-CA 17 56435717 56435717 single base substitution A G missense_variant S347P 1039T>C PACA-CA 17 56435717 56435717 single base substitution A G missense_variant S433P 1297T>C PACA-CA 17 56435717 56435717 single base substitution A G missense_variant S474P 1420T>C PACA-CA 17 56435948 56435948 single base substitution G A downstream_gene_variant PACA-CA 17 56435948 56435948 single base substitution G A missense_variant R270W 808C>T PACA-CA 17 56435948 56435948 single base substitution G A missense_variant R356W 1066C>T PACA-CA 17 56435948 56435948 single base substitution G A missense_variant R397W 1189C>T PACA-CA 17 56436149 56436149 single base substitution G T downstream_gene_variant PACA-CA 17 56436149 56436149 single base substitution G T synonymous_variant R203R 607C>A PACA-CA 17 56436149 56436149 single base substitution G T synonymous_variant R289R 865C>A PACA-CA 17 56436149 56436149 single base substitution G T synonymous_variant R330R 988C>A PACA-CA 17 56436183 56436183 single base substitution C A downstream_gene_variant PACA-CA 17 56436183 56436183 single base substitution C A missense_variant E191D 573G>T PACA-CA 17 56436183 56436183 single base substitution C A missense_variant E277D 831G>T PACA-CA 17 56436183 56436183 single base substitution C A missense_variant E318D 954G>T PACA-CA 17 56436185 56436185 single base substitution C T downstream_gene_variant PACA-CA 17 56436185 56436185 single base substitution C T splice_acceptor_variant PACA-CA 17 56438166 56438166 single base substitution A G downstream_gene_variant PACA-CA 17 56438166 56438166 single base substitution A G missense_variant L149P 446T>C PACA-CA 17 56438166 56438166 single base substitution A G missense_variant L235P 704T>C PACA-CA 17 56438166 56438166 single base substitution A G missense_variant L276P 827T>C PACA-CA 17 56440011 56440011 single base substitution T C downstream_gene_variant PACA-CA 17 56440011 56440011 single base substitution T C splice_acceptor_variant PACA-CA 17 56440147 56440147 single base substitution A G downstream_gene_variant PACA-CA 17 56440147 56440147 single base substitution A G intron_variant PACA-CA 17 56440713 56440713 single base substitution C T exon_variant PACA-CA 17 56440713 56440713 single base substitution C T missense_variant A128T 382G>A PACA-CA 17 56440713 56440713 single base substitution C T missense_variant A169T 505G>A PACA-CA 17 56440713 56440713 single base substitution C T missense_variant A42T 124G>A PACA-CA 17 56440739 56440739 single base substitution G C exon_variant PACA-CA 17 56440739 56440739 single base substitution G C missense_variant P119R 356C>G PACA-CA 17 56440739 56440739 single base substitution G C missense_variant P160R 479C>G PACA-CA 17 56440739 56440739 single base substitution G C missense_variant P33R 98C>G PACA-CA 17 56440757 56440757 single base substitution G A exon_variant PACA-CA 17 56440757 56440757 single base substitution G A missense_variant P113L 338C>T PACA-CA 17 56440757 56440757 single base substitution G A missense_variant P154L 461C>T PACA-CA 17 56440757 56440757 single base substitution G A missense_variant P27L 80C>T PACA-CA 17 56440761 56440761 single base substitution G A exon_variant PACA-CA 17 56440761 56440761 single base substitution G A stop_gained Q112* 334C>T PACA-CA 17 56440761 56440761 single base substitution G A stop_gained Q153* 457C>T PACA-CA 17 56440761 56440761 single base substitution G A stop_gained Q26* 76C>T PACA-CA 17 56440768 56440768 single base substitution C A splice_acceptor_variant PACA-CA 17 56440940 56440940 single base substitution C T exon_variant PACA-CA 17 56440940 56440940 single base substitution C T missense_variant G133R 397G>A PACA-CA 17 56440940 56440940 single base substitution C T missense_variant G6R 16G>A PACA-CA 17 56440940 56440940 single base substitution C T missense_variant G92R 274G>A PACA-CA 17 56442141 56442141 single base substitution C T intron_variant PACA-CA 17 56442141 56442141 single base substitution C T upstream_gene_variant PACA-CA 17 56444906 56444906 single base substitution C A intron_variant PACA-CA 17 56444906 56444906 single base substitution C A upstream_gene_variant PACA-CA 17 56446454 56446454 single base substitution G A intron_variant PACA-CA 17 56448131 56448131 single base substitution A T intron_variant PACA-CA 17 56448375 56448375 single base substitution C G 5_prime_UTR_variant PACA-CA 17 56448375 56448375 single base substitution C G intron_variant PACA-CA 17 56448375 56448375 single base substitution C G missense_variant C91S 272G>C PACA-CA 17 56451632 56451632 single base substitution A G intron_variant PACA-CA 17 56456334 56456334 single base substitution C T intron_variant PACA-CA 17 56459823 56459823 single base substitution T C intron_variant PACA-CA 17 56462470 56462470 single base substitution C T intron_variant PACA-CA 17 56463197 56463197 single base substitution G A intron_variant PACA-CA 17 56466242 56466243 deletion of <=200bp AA - intron_variant PACA-CA 17 56469887 56469892 deletion of <=200bp ATATGT - intron_variant PACA-CA 17 56470797 56470798 deletion of <=200bp AG - intron_variant PACA-CA 17 56472930 56472930 single base substitution C G intron_variant PACA-CA 17 56477675 56477675 single base substitution G C intron_variant PACA-CA 17 56480360 56480360 single base substitution T G intron_variant PACA-CA 17 56480360 56480360 single base substitution T G upstream_gene_variant PACA-CA 17 56487314 56487314 single base substitution C T intron_variant PACA-CA 17 56487787 56487787 deletion of <=200bp T - intron_variant PACA-CA 17 56491566 56491566 single base substitution C T downstream_gene_variant PACA-CA 17 56491566 56491566 single base substitution C T intron_variant PACA-CA 17 56492730 56492730 single base substitution G C downstream_gene_variant PACA-CA 17 56492730 56492730 single base substitution G C intron_variant PACA-CA 17 56492730 56492730 single base substitution G C missense_variant A70G 209C>G PACA-CA 17 56492802 56492802 single base substitution G A downstream_gene_variant PACA-CA 17 56492802 56492802 single base substitution G A intron_variant PACA-CA 17 56492802 56492802 single base substitution G A missense_variant A46V 137C>T PACA-CA 17 56494492 56494492 deletion of <=200bp C - 5_prime_UTR_variant PACA-CA 17 56494492 56494492 deletion of <=200bp C - exon_variant PACA-CA 17 56494492 56494492 deletion of <=200bp C - upstream_gene_variant PACA-CA 17 56494887 56494887 single base substitution T C 5_prime_UTR_variant PACA-CA 17 56494887 56494887 single base substitution T C exon_variant PACA-CA 17 56494887 56494887 single base substitution T C upstream_gene_variant PACA-CA 17 56497730 56497730 single base substitution C T upstream_gene_variant PAEN-AU 17 56438080 56438080 single base substitution A C downstream_gene_variant PAEN-AU 17 56438080 56438080 single base substitution A C intron_variant PAEN-AU 17 56446436 56446436 single base substitution A G intron_variant PAEN-AU 17 56460963 56460963 single base substitution T A intron_variant PAEN-AU 17 56488039 56488039 single base substitution A C intron_variant PAEN-AU 17 56489571 56489571 single base substitution C T downstream_gene_variant PAEN-AU 17 56489571 56489571 single base substitution C T intron_variant PAEN-IT 17 56455973 56455973 single base substitution A G intron_variant PAEN-IT 17 56481632 56481632 single base substitution A G intron_variant PAEN-IT 17 56481632 56481632 single base substitution A G upstream_gene_variant PBCA-DE 17 56433865 56433865 single base substitution C A downstream_gene_variant PBCA-DE 17 56433865 56433865 single base substitution C A intron_variant PBCA-DE 17 56433886 56433886 single base substitution A G downstream_gene_variant PBCA-DE 17 56433886 56433886 single base substitution A G intron_variant PBCA-DE 17 56444409 56444409 single base substitution C T intron_variant PBCA-DE 17 56444409 56444409 single base substitution C T upstream_gene_variant PBCA-DE 17 56446110 56446110 single base substitution C T intron_variant PBCA-DE 17 56446430 56446431 deletion of <=200bp AC - intron_variant PBCA-DE 17 56470769 56470769 deletion of <=200bp A - intron_variant PBCA-DE 17 56482287 56482287 insertion of <=200bp - A intron_variant PBCA-DE 17 56482287 56482287 insertion of <=200bp - A upstream_gene_variant PBCA-DE 17 56483566 56483566 single base substitution C T intron_variant PBCA-DE 17 56483566 56483566 single base substitution C T upstream_gene_variant PBCA-DE 17 56496453 56496453 single base substitution G A upstream_gene_variant PBCA-DE 17 56498865 56498865 single base substitution C T upstream_gene_variant PRAD-CA 17 56427274 56427274 single base substitution T C downstream_gene_variant PRAD-CA 17 56440946 56440946 single base substitution C A exon_variant PRAD-CA 17 56440946 56440946 single base substitution C A stop_gained E131* 391G>T PRAD-CA 17 56440946 56440946 single base substitution C A stop_gained E4* 10G>T PRAD-CA 17 56440946 56440946 single base substitution C A stop_gained E90* 268G>T PRAD-CA 17 56457819 56457819 single base substitution A T intron_variant PRAD-CA 17 56458344 56458344 single base substitution T G intron_variant PRAD-UK 17 56432546 56432546 single base substitution T C downstream_gene_variant PRAD-UK 17 56432546 56432546 single base substitution T C intron_variant PRAD-UK 17 56437262 56437262 deletion of <=200bp G - downstream_gene_variant PRAD-UK 17 56437262 56437262 deletion of <=200bp G - intron_variant PRAD-UK 17 56442185 56442185 single base substitution C G intron_variant PRAD-UK 17 56442185 56442185 single base substitution C G upstream_gene_variant PRAD-UK 17 56444481 56444481 single base substitution C T intron_variant PRAD-UK 17 56444481 56444481 single base substitution C T upstream_gene_variant PRAD-UK 17 56447595 56447595 single base substitution A C intron_variant PRAD-UK 17 56449966 56449966 single base substitution G A intron_variant PRAD-UK 17 56496170 56496170 single base substitution A G upstream_gene_variant PRAD-UK 17 56496438 56496485 deletion of <=200bp CTCACTGCAAGCTCCGCCTCCCGGTTCATGCCATTCTCCTGCCTCAGC - upstream_gene_variant PRAD-US 17 56434877 56434877 single base substitution C G missense_variant G627R 1879G>C PRAD-US 17 56434877 56434877 single base substitution C G missense_variant G713R 2137G>C PRAD-US 17 56434877 56434877 single base substitution C G missense_variant G754R 2260G>C PRAD-US 17 56435161 56435161 deletion of <=200bp C - frameshift_variant G532 PRAD-US 17 56435161 56435161 deletion of <=200bp C - frameshift_variant G618 PRAD-US 17 56435161 56435161 deletion of <=200bp C - frameshift_variant G659 PRAD-US 17 56435189 56435189 single base substitution G A stop_gained R523* 1567C>T PRAD-US 17 56435189 56435189 single base substitution G A stop_gained R609* 1825C>T PRAD-US 17 56435189 56435189 single base substitution G A stop_gained R650* 1948C>T PRAD-US 17 56435501 56435501 insertion of <=200bp - G frameshift_variant S419T? PRAD-US 17 56435501 56435501 insertion of <=200bp - G frameshift_variant S505T? PRAD-US 17 56435501 56435501 insertion of <=200bp - G frameshift_variant S546T? READ-US 17 56492792 56492805 deletion of <=200bp TCTGATAATAGCTT - downstream_gene_variant READ-US 17 56492792 56492805 deletion of <=200bp TCTGATAATAGCTT - frameshift_variant KAIIR45 READ-US 17 56492792 56492805 deletion of <=200bp TCTGATAATAGCTT - intron_variant READ-US 17 56492812 56492812 deletion of <=200bp C - downstream_gene_variant READ-US 17 56492812 56492812 deletion of <=200bp C - frameshift_variant E43 READ-US 17 56492812 56492812 deletion of <=200bp C - intron_variant RECA-EU 17 56425589 56425589 single base substitution G T downstream_gene_variant RECA-EU 17 56436535 56436535 single base substitution T C downstream_gene_variant RECA-EU 17 56436535 56436535 single base substitution T C intron_variant RECA-EU 17 56448492 56448492 single base substitution C T intron_variant RECA-EU 17 56454249 56454249 single base substitution T G intron_variant RECA-EU 17 56462308 56462308 single base substitution G T intron_variant RECA-EU 17 56466338 56466338 single base substitution G A intron_variant RECA-EU 17 56471910 56471910 single base substitution A G intron_variant RECA-EU 17 56474145 56474145 single base substitution A T intron_variant RECA-EU 17 56476463 56476463 single base substitution G T intron_variant RECA-EU 17 56485908 56485908 single base substitution T G intron_variant RECA-EU 17 56486308 56486308 single base substitution G T intron_variant RECA-EU 17 56492082 56492082 single base substitution T C downstream_gene_variant RECA-EU 17 56492082 56492082 single base substitution T C intron_variant RECA-EU 17 56497617 56497617 single base substitution G A upstream_gene_variant SKCA-BR 17 56428197 56428198 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 17 56429768 56429768 single base substitution T G downstream_gene_variant SKCA-BR 17 56435501 56435501 insertion of <=200bp - TG frameshift_variant S419T? SKCA-BR 17 56435501 56435501 insertion of <=200bp - TG frameshift_variant S505T? SKCA-BR 17 56435501 56435501 insertion of <=200bp - TG frameshift_variant S546T? SKCA-BR 17 56438946 56438946 single base substitution G A downstream_gene_variant SKCA-BR 17 56438946 56438946 single base substitution G A intron_variant SKCA-BR 17 56444930 56444930 single base substitution C T intron_variant SKCA-BR 17 56444930 56444930 single base substitution C T upstream_gene_variant SKCA-BR 17 56446839 56446839 single base substitution G A intron_variant SKCA-BR 17 56447539 56447539 single base substitution C T intron_variant SKCA-BR 17 56449419 56449419 single base substitution G T intron_variant SKCA-BR 17 56451407 56451407 single base substitution T G intron_variant SKCA-BR 17 56454709 56454709 single base substitution G A intron_variant SKCA-BR 17 56455260 56455260 single base substitution C G intron_variant SKCA-BR 17 56457559 56457559 single base substitution C T intron_variant SKCA-BR 17 56458743 56458743 single base substitution T A intron_variant SKCA-BR 17 56461327 56461327 single base substitution A C intron_variant SKCA-BR 17 56464097 56464097 single base substitution G A intron_variant SKCA-BR 17 56470322 56470329 deletion of <=200bp CAACACAG - intron_variant SKCA-BR 17 56487508 56487508 single base substitution G A intron_variant SKCA-BR 17 56495767 56495767 single base substitution A C upstream_gene_variant SKCA-BR 17 56498495 56498495 single base substitution G A upstream_gene_variant SKCM-US 17 56432331 56432331 single base substitution G A downstream_gene_variant SKCM-US 17 56432331 56432331 single base substitution G A synonymous_variant L648L 1944C>T SKCM-US 17 56432331 56432331 single base substitution G A synonymous_variant L734L 2202C>T SKCM-US 17 56432331 56432331 single base substitution G A synonymous_variant L775L 2325C>T SKCM-US 17 56434905 56434905 single base substitution A T synonymous_variant P617P 1851T>A SKCM-US 17 56434905 56434905 single base substitution A T synonymous_variant P703P 2109T>A SKCM-US 17 56434905 56434905 single base substitution A T synonymous_variant P744P 2232T>A SKCM-US 17 56435042 56435042 single base substitution A C missense_variant L572V 1714T>G SKCM-US 17 56435042 56435042 single base substitution A C missense_variant L658V 1972T>G SKCM-US 17 56435042 56435042 single base substitution A C missense_variant L699V 2095T>G SKCM-US 17 56435408 56435408 single base substitution G A stop_gained Q450* 1348C>T SKCM-US 17 56435408 56435408 single base substitution G A stop_gained Q536* 1606C>T SKCM-US 17 56435408 56435408 single base substitution G A stop_gained Q577* 1729C>T SKCM-US 17 56435450 56435450 single base substitution G A stop_gained Q436* 1306C>T SKCM-US 17 56435450 56435450 single base substitution G A stop_gained Q522* 1564C>T SKCM-US 17 56435450 56435450 single base substitution G A stop_gained Q563* 1687C>T SKCM-US 17 56435504 56435504 single base substitution A G missense_variant S418P 1252T>C SKCM-US 17 56435504 56435504 single base substitution A G missense_variant S504P 1510T>C SKCM-US 17 56435504 56435504 single base substitution A G missense_variant S545P 1633T>C SKCM-US 17 56435546 56435546 single base substitution G A downstream_gene_variant SKCM-US 17 56435546 56435546 single base substitution G A missense_variant R404C 1210C>T SKCM-US 17 56435546 56435546 single base substitution G A missense_variant R490C 1468C>T SKCM-US 17 56435546 56435546 single base substitution G A missense_variant R531C 1591C>T SKCM-US 17 56435718 56435718 single base substitution G A downstream_gene_variant SKCM-US 17 56435718 56435718 single base substitution G A synonymous_variant G346G 1038C>T SKCM-US 17 56435718 56435718 single base substitution G A synonymous_variant G432G 1296C>T SKCM-US 17 56435718 56435718 single base substitution G A synonymous_variant G473G 1419C>T SKCM-US 17 56435835 56435835 single base substitution G A downstream_gene_variant SKCM-US 17 56435835 56435835 single base substitution G A synonymous_variant P307P 921C>T SKCM-US 17 56435835 56435835 single base substitution G A synonymous_variant P393P 1179C>T SKCM-US 17 56435835 56435835 single base substitution G A synonymous_variant P434P 1302C>T SKCM-US 17 56436015 56436015 single base substitution G A downstream_gene_variant SKCM-US 17 56436015 56436015 single base substitution G A synonymous_variant P247P 741C>T SKCM-US 17 56436015 56436015 single base substitution G A synonymous_variant P333P 999C>T SKCM-US 17 56436015 56436015 single base substitution G A synonymous_variant P374P 1122C>T SKCM-US 17 56440957 56440957 single base substitution C T 5_prime_UTR_variant SKCM-US 17 56440957 56440957 single base substitution C T missense_variant R127Q 380G>A SKCM-US 17 56440957 56440957 single base substitution C T missense_variant R86Q 257G>A SKCM-US 17 56440957 56440957 single base substitution C T upstream_gene_variant SKCM-US 17 56448328 56448328 single base substitution C T 5_prime_UTR_variant SKCM-US 17 56448328 56448328 single base substitution C T intron_variant SKCM-US 17 56448328 56448328 single base substitution C T missense_variant V107I 319G>A STAD-US 17 56424934 56424934 single base substitution A G downstream_gene_variant STAD-US 17 56435035 56435035 single base substitution C T missense_variant C574Y 1721G>A STAD-US 17 56435035 56435035 single base substitution C T missense_variant C660Y 1979G>A STAD-US 17 56435035 56435035 single base substitution C T missense_variant C701Y 2102G>A STAD-US 17 56435094 56435094 deletion of <=200bp A - frameshift_variant F554 STAD-US 17 56435094 56435094 deletion of <=200bp A - frameshift_variant F640 STAD-US 17 56435094 56435094 deletion of <=200bp A - frameshift_variant F681 STAD-US 17 56435161 56435161 deletion of <=200bp C - frameshift_variant G532 STAD-US 17 56435161 56435161 deletion of <=200bp C - frameshift_variant G618 STAD-US 17 56435161 56435161 deletion of <=200bp C - frameshift_variant G659 STAD-US 17 56435161 56435161 insertion of <=200bp - C frameshift_variant G532G? STAD-US 17 56435161 56435161 insertion of <=200bp - C frameshift_variant G618G? STAD-US 17 56435161 56435161 insertion of <=200bp - C frameshift_variant G659G? STAD-US 17 56435355 56435357 deletion of <=200bp AGG - inframe_deletion P467 STAD-US 17 56435355 56435357 deletion of <=200bp AGG - inframe_deletion P553 STAD-US 17 56435355 56435357 deletion of <=200bp AGG - inframe_deletion P594 STAD-US 17 56435590 56435590 single base substitution T C downstream_gene_variant STAD-US 17 56435590 56435590 single base substitution T C missense_variant D389G 1166A>G STAD-US 17 56435590 56435590 single base substitution T C missense_variant D475G 1424A>G STAD-US 17 56435590 56435590 single base substitution T C missense_variant D516G 1547A>G STAD-US 17 56435591 56435591 insertion of <=200bp - C downstream_gene_variant STAD-US 17 56435591 56435591 insertion of <=200bp - C frameshift_variant D389G? STAD-US 17 56435591 56435591 insertion of <=200bp - C frameshift_variant D475G? STAD-US 17 56435591 56435591 insertion of <=200bp - C frameshift_variant D516G? STAD-US 17 56435709 56435709 single base substitution A G downstream_gene_variant STAD-US 17 56435709 56435709 single base substitution A G synonymous_variant S349S 1047T>C STAD-US 17 56435709 56435709 single base substitution A G synonymous_variant S435S 1305T>C STAD-US 17 56435709 56435709 single base substitution A G synonymous_variant S476S 1428T>C STAD-US 17 56435766 56435766 single base substitution G T downstream_gene_variant STAD-US 17 56435766 56435766 single base substitution G T stop_gained Y330* 990C>A STAD-US 17 56435766 56435766 single base substitution G T stop_gained Y416* 1248C>A STAD-US 17 56435766 56435766 single base substitution G T stop_gained Y457* 1371C>A STAD-US 17 56436149 56436149 single base substitution G A downstream_gene_variant STAD-US 17 56436149 56436149 single base substitution G A stop_gained R203* 607C>T STAD-US 17 56436149 56436149 single base substitution G A stop_gained R289* 865C>T STAD-US 17 56436149 56436149 single base substitution G A stop_gained R330* 988C>T STAD-US 17 56437515 56437515 single base substitution A G downstream_gene_variant STAD-US 17 56437515 56437515 single base substitution A G missense_variant I189T 566T>C STAD-US 17 56437515 56437515 single base substitution A G missense_variant I275T 824T>C STAD-US 17 56437515 56437515 single base substitution A G missense_variant I316T 947T>C STAD-US 17 56437531 56437531 deletion of <=200bp G - downstream_gene_variant STAD-US 17 56437531 56437531 deletion of <=200bp G - frameshift_variant L184 STAD-US 17 56437531 56437531 deletion of <=200bp G - frameshift_variant L270 STAD-US 17 56437531 56437531 deletion of <=200bp G - frameshift_variant L311 STAD-US 17 56437605 56437605 single base substitution C T downstream_gene_variant STAD-US 17 56437605 56437605 single base substitution C T missense_variant R159Q 476G>A STAD-US 17 56437605 56437605 single base substitution C T missense_variant R245Q 734G>A STAD-US 17 56437605 56437605 single base substitution C T missense_variant R286Q 857G>A STAD-US 17 56438164 56438164 single base substitution C A downstream_gene_variant STAD-US 17 56438164 56438164 single base substitution C A stop_gained E150* 448G>T STAD-US 17 56438164 56438164 single base substitution C A stop_gained E236* 706G>T STAD-US 17 56438164 56438164 single base substitution C A stop_gained E277* 829G>T STAD-US 17 56438233 56438233 single base substitution G A downstream_gene_variant STAD-US 17 56438233 56438233 single base substitution G A stop_gained Q127* 379C>T STAD-US 17 56438233 56438233 single base substitution G A stop_gained Q213* 637C>T STAD-US 17 56438233 56438233 single base substitution G A stop_gained Q254* 760C>T STAD-US 17 56439908 56439908 single base substitution C T downstream_gene_variant STAD-US 17 56439908 56439908 single base substitution C T synonymous_variant R101R 303G>A STAD-US 17 56439908 56439908 single base substitution C T synonymous_variant R187R 561G>A STAD-US 17 56439908 56439908 single base substitution C T synonymous_variant R228R 684G>A STAD-US 17 56439936 56439936 single base substitution C T downstream_gene_variant STAD-US 17 56439936 56439936 single base substitution C T missense_variant R178H 533G>A STAD-US 17 56439936 56439936 single base substitution C T missense_variant R219H 656G>A STAD-US 17 56439936 56439936 single base substitution C T missense_variant R92H 275G>A STAD-US 17 56440698 56440720 deletion of <=200bp CCATCAGCTTCTCAGCGTCATTA - exon_variant STAD-US 17 56440698 56440720 deletion of <=200bp CCATCAGCTTCTCAGCGTCATTA - frameshift_variant GNDAEKLME125 STAD-US 17 56440698 56440720 deletion of <=200bp CCATCAGCTTCTCAGCGTCATTA - frameshift_variant GNDAEKLME166 STAD-US 17 56440698 56440720 deletion of <=200bp CCATCAGCTTCTCAGCGTCATTA - frameshift_variant GNDAEKLME39 STAD-US 17 56448298 56448298 deletion of <=200bp G - 5_prime_UTR_variant STAD-US 17 56448298 56448298 deletion of <=200bp G - frameshift_variant R117 STAD-US 17 56448298 56448298 deletion of <=200bp G - intron_variant STAD-US 17 56448298 56448298 insertion of <=200bp - G 5_prime_UTR_variant STAD-US 17 56448298 56448298 insertion of <=200bp - G frameshift_variant R117P? STAD-US 17 56448298 56448298 insertion of <=200bp - G intron_variant STAD-US 17 56448391 56448391 single base substitution G A 5_prime_UTR_variant STAD-US 17 56448391 56448391 single base substitution G A intron_variant STAD-US 17 56448391 56448391 single base substitution G A missense_variant H86Y 256C>T STAD-US 17 56492797 56492797 insertion of <=200bp - A downstream_gene_variant STAD-US 17 56492797 56492797 insertion of <=200bp - A frameshift_variant I48I? STAD-US 17 56492797 56492797 insertion of <=200bp - A intron_variant STAD-US 17 56492798 56492798 insertion of <=200bp - A downstream_gene_variant STAD-US 17 56492798 56492798 insertion of <=200bp - A frameshift_variant I47I? STAD-US 17 56492798 56492798 insertion of <=200bp - A intron_variant UCEC-US 17 56424919 56424919 single base substitution T C downstream_gene_variant UCEC-US 17 56435317 56435317 single base substitution G A missense_variant S480L 1439C>T UCEC-US 17 56435317 56435317 single base substitution G A missense_variant S566L 1697C>T UCEC-US 17 56435317 56435317 single base substitution G A missense_variant S607L 1820C>T UCEC-US 17 56435378 56435378 single base substitution G A missense_variant P460S 1378C>T UCEC-US 17 56435378 56435378 single base substitution G A missense_variant P546S 1636C>T UCEC-US 17 56435378 56435378 single base substitution G A missense_variant P587S 1759C>T UCEC-US 17 56435545 56435545 single base substitution C T downstream_gene_variant UCEC-US 17 56435545 56435545 single base substitution C T missense_variant R404H 1211G>A UCEC-US 17 56435545 56435545 single base substitution C T missense_variant R490H 1469G>A UCEC-US 17 56435545 56435545 single base substitution C T missense_variant R531H 1592G>A UCEC-US 17 56435582 56435582 single base substitution G A downstream_gene_variant UCEC-US 17 56435582 56435582 single base substitution G A stop_gained R392* 1174C>T UCEC-US 17 56435582 56435582 single base substitution G A stop_gained R478* 1432C>T UCEC-US 17 56435582 56435582 single base substitution G A stop_gained R519* 1555C>T UCEC-US 17 56435790 56435790 single base substitution G A downstream_gene_variant UCEC-US 17 56435790 56435790 single base substitution G A synonymous_variant S322S 966C>T UCEC-US 17 56435790 56435790 single base substitution G A synonymous_variant S408S 1224C>T UCEC-US 17 56435790 56435790 single base substitution G A synonymous_variant S449S 1347C>T UCEC-US 17 56436128 56436128 single base substitution G A downstream_gene_variant UCEC-US 17 56436128 56436128 single base substitution G A stop_gained R210* 628C>T UCEC-US 17 56436128 56436128 single base substitution G A stop_gained R296* 886C>T UCEC-US 17 56436128 56436128 single base substitution G A stop_gained R337* 1009C>T UCEC-US 17 56437556 56437556 deletion of <=200bp C - downstream_gene_variant UCEC-US 17 56437556 56437556 deletion of <=200bp C - frameshift_variant W175 UCEC-US 17 56437556 56437556 deletion of <=200bp C - frameshift_variant W261 UCEC-US 17 56437556 56437556 deletion of <=200bp C - frameshift_variant W302 UCEC-US 17 56437606 56437606 single base substitution G A downstream_gene_variant UCEC-US 17 56437606 56437606 single base substitution G A missense_variant R159W 475C>T UCEC-US 17 56437606 56437606 single base substitution G A missense_variant R245W 733C>T UCEC-US 17 56437606 56437606 single base substitution G A missense_variant R286W 856C>T UCEC-US 17 56439936 56439936 single base substitution C T downstream_gene_variant UCEC-US 17 56439936 56439936 single base substitution C T missense_variant R178H 533G>A UCEC-US 17 56439936 56439936 single base substitution C T missense_variant R219H 656G>A UCEC-US 17 56439936 56439936 single base substitution C T missense_variant R92H 275G>A UCEC-US 17 56439944 56439944 single base substitution C T downstream_gene_variant UCEC-US 17 56439944 56439944 single base substitution C T synonymous_variant S175S 525G>A UCEC-US 17 56439944 56439944 single base substitution C T synonymous_variant S216S 648G>A UCEC-US 17 56439944 56439944 single base substitution C T synonymous_variant S89S 267G>A UCEC-US 17 56440011 56440011 single base substitution T A downstream_gene_variant UCEC-US 17 56440011 56440011 single base substitution T A splice_acceptor_variant UCEC-US 17 56440645 56440645 single base substitution G A exon_variant UCEC-US 17 56440645 56440645 single base substitution G A synonymous_variant P150P 450C>T UCEC-US 17 56440645 56440645 single base substitution G A synonymous_variant P191P 573C>T UCEC-US 17 56440645 56440645 single base substitution G A synonymous_variant P64P 192C>T UCEC-US 17 56440757 56440757 single base substitution G A exon_variant UCEC-US 17 56440757 56440757 single base substitution G A missense_variant P113L 338C>T UCEC-US 17 56440757 56440757 single base substitution G A missense_variant P154L 461C>T UCEC-US 17 56440757 56440757 single base substitution G A missense_variant P27L 80C>T UCEC-US 17 56440758 56440758 single base substitution G A exon_variant UCEC-US 17 56440758 56440758 single base substitution G A missense_variant P113S 337C>T UCEC-US 17 56440758 56440758 single base substitution G A missense_variant P154S 460C>T UCEC-US 17 56440758 56440758 single base substitution G A missense_variant P27S 79C>T UCEC-US 17 56440943 56440943 single base substitution G A exon_variant UCEC-US 17 56440943 56440943 single base substitution G A stop_gained R132* 394C>T UCEC-US 17 56440943 56440943 single base substitution G A stop_gained R5* 13C>T UCEC-US 17 56440943 56440943 single base substitution G A stop_gained R91* 271C>T UCEC-US 17 56448393 56448393 single base substitution G A intron_variant UCEC-US 17 56448393 56448393 single base substitution G A missense_variant S85F 254C>T UCEC-US 17 56448393 56448393 single base substitution G A splice_region_variant UCEC-US 17 56492875 56492875 single base substitution G A downstream_gene_variant UCEC-US 17 56492875 56492875 single base substitution G A intron_variant UCEC-US 17 56492875 56492875 single base substitution G A stop_gained Q22* 64C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T464 COSM3195610 c.1976_1977insG p.P660fs*87 Insertion - Frameshift 17:58357799-58357800 - 2361997 COSM4972294 c.? p.L7fs*? Frameshift SH-6055 COSM3755721 c.350G>A p.R117H Substitution - Missense 17:58370936-58370936 - C135 COSM1734865 c.1977delT p.S661fs*39 Deletion - Frameshift 17:58357799-58357799 - TCGA-AP-A0LM-01 COSM981858 c.1347C>T p.S449S Substitution - coding silent 17:58358429-58358429 - PD3858a COSM164065 c.103G>T p.A35S Substitution - Missense 17:58415475-58415475 - 2432489 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - T3202 COSM1729131 c.149T>C p.V50A Substitution - Missense 17:58415429-58415429 - TCGA-EI-7004-01 COSM5079827 c.127delG p.E43fs*8 Deletion - Frameshift 17:58415451-58415451 - BD124T COSM5493616 c.1761C>T p.P587P Substitution - coding silent 17:58358015-58358015 - pfg068T COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - CHC1744T COSM4792380 c.1032G>T p.Q344H Substitution - Missense 17:58358744-58358744 - TCGA-A6-6781-01 COSM1384749 c.1970G>A p.R657Q Substitution - Missense 17:58357806-58357806 - ESO-120 COSM981860 c.1009C>T p.R337* Substitution - Nonsense 17:58358767-58358767 - RKO COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2432566 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2244229 COSM4381088 c.928C>G p.P310A Substitution - Missense 17:58360173-58360173 - 2478225 COSM5613055 c.766_766delC p.R256fs*163 Deletion - Frameshift 17:58360866-58360866 - TCGA-ER-A42K-06 COSM4894905 c.1591C>T p.R531C Substitution - Missense 17:58358185-58358185 - 12-P4072 COSM4579916 c.1564A>C p.M522L Substitution - Missense 17:58358212-58358212 - TCGA-AJ-A23M-01 COSM981866 c.573C>T p.P191P Substitution - coding silent 17:58363284-58363284 - pfg008T COSM176982 c.245T>C p.L82S Substitution - Missense 17:58415333-58415333 - CG10 COSM5422863 c.905G>A p.W302* Substitution - Nonsense 17:58360196-58360196 - 2478315 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - TCGA-BR-A4QM-01 COSM4068168 c.256C>T p.H86Y Substitution - Missense 17:58371030-58371030 - TCGA-AA-3947-01 COSM272263 c.1321_1322insA p.P441fs*2 Insertion - Frameshift 17:58358454-58358455 - TCGA-CZ-5454-01 COSM473106 c.518T>C p.M173T Substitution - Missense 17:58363339-58363339 - TCGA-AX-A060-01 COSM981855 c.1759C>T p.P587S Substitution - Missense 17:58358017-58358017 - TCGA-D5-6928-01 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2432475 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2432576 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - LUAD-AEIUF COSM392886 c.1407G>T p.G469G Substitution - coding silent 17:58358369-58358369 - 2478304 COSM1716835 c.931_932insC p.L311fs*132 Insertion - Frameshift 17:58360169-58360170 - T3336 COSM4589929 c.1393G>A p.D465N Substitution - Missense 17:58358383-58358383 - TCGA-BR-6452-01 COSM4068167 c.684G>A p.R228R Substitution - coding silent 17:58362547-58362547 - CSCC-17-T COSM4514966 c.992C>T p.S331F Substitution - Missense 17:58358784-58358784 - TCGA-13-1494-01 COSM116233 c.437C>G p.A146G Substitution - Missense 17:58363539-58363539 - T3182 COSM4589926 c.77_78insGG p.R27fs*25 Insertion - Frameshift 17:58415500-58415501 - SC_9103 COSM5562923 c.2306C>G p.P769R Substitution - Missense 17:58357470-58357470 - TCGA-AA-3715-01 COSM270051 c.2065G>A p.A689T Substitution - Missense 17:58357711-58357711 - T2932 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2432564 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - HCC131T COSM1610539 c.1080C>T p.G360G Substitution - coding silent 17:58358696-58358696 - PT37 COSM5921233 c.1742C>T p.P581L Substitution - Missense 17:58358034-58358034 - 2478285 COSM5613069 c.335_335delC p.P112fs*46 Deletion - Frameshift 17:58370951-58370951 - TCGA-CG-4469-01 COSM4068165 c.829G>T p.E277* Substitution - Nonsense 17:58360803-58360803 - 2478308 COSM5613073 c.356G>A p.C119Y Substitution - Missense 17:58370930-58370930 - TCGA-HC-7819-01 COSM4392568 c.2260G>C p.G754R Substitution - Missense 17:58357516-58357516 - TCGA-AA-3663-01 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - LS174T COSM1734865 c.1977delT p.S661fs*39 Deletion - Frameshift 17:58357799-58357799 - PCSI_0060_Pa_X COSM248855 c.505G>A p.A169T Substitution - Missense 17:58363352-58363352 - 2361996 COSM4972295 c.? p.R117fs*? Frameshift MM20T COSM5417542 c.2261G>A p.G754D Substitution - Missense 17:58357515-58357515 - 587338 COSM1224016 c.1360C>T p.R454C Substitution - Missense 17:58358416-58358416 - SH-9771 COSM3755721 c.350G>A p.R117H Substitution - Missense 17:58370936-58370936 - 2432554 COSM1384762 c.349delC p.R117fs*41 Deletion - Frameshift 17:58370937-58370937 - LIM2405 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2432490 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2478239 COSM248786 c.433C>T p.R145* Substitution - Nonsense 17:58363543-58363543 - TCGA-AP-A0LM-01 COSM981863 c.656G>A p.R219H Substitution - Missense 17:58362575-58362575 - TCGA-EJ-7782-01 COSM303124 c.1948C>T p.R650* Substitution - Nonsense 17:58357828-58357828 - 1881343 COSM1716833 c.583-586delCCAG p.P195fs*7 Deletion - Frameshift 17:58362649-58362649 - T3064 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - pfg413T COSM981870 c.394C>T p.R132* Substitution - Nonsense 17:58363582-58363582 - SW48 COSM1384754 c.896_897delTG p.V299fs*143 Deletion - Frameshift 17:58360204-58360205 - SNU-C2B COSM3195642 c.825_828delTCTG p.C275fs*143 Deletion - Frameshift 17:58360804-58360807 - TCGA-AN-A0AK-01 COSM3820069 c.272G>A p.C91Y Substitution - Missense 17:58371014-58371014 - 2478308 COSM3195627 c.1556G>A p.R519Q Substitution - Missense 17:58358220-58358220 - T368 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - TCGA-BG-A0M4-01 COSM981872 c.232G>A p.A78T Substitution - Missense 17:58415346-58415346 - TCGA-D5-6540-01 COSM1384756 c.857G>A p.R286Q Substitution - Missense 17:58360244-58360244 - TCGA-CG-5720-01 COSM4068163 c.1371C>A p.Y457* Substitution - Nonsense 17:58358405-58358405 - 2432557 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - PDA_103 COSM5003647 c.484G>A p.V162M Substitution - Missense 17:58363373-58363373 - CSCC-38-T COSM4512419 c.901C>T p.P301S Substitution - Missense 17:58360200-58360200 - 2432556 COSM1384762 c.349delC p.R117fs*41 Deletion - Frameshift 17:58370937-58370937 - pfg019T COSM1640760 c.2280G>A p.P760P Substitution - coding silent 17:58357496-58357496 - sysucc-1370T COSM303124 c.1948C>T p.R650* Substitution - Nonsense 17:58357828-58357828 - pfg143T COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - SW48 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - PCSI_0112_Pa_P COSM3378434 c.988C>A p.R330R Substitution - coding silent 17:58358788-58358788 - 2478292 COSM3388049 c.988C>T p.R330* Substitution - Nonsense 17:58358788-58358788 - 2432494 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - TCGA-HT-7690-01 COSM981857 c.1555C>T p.R519* Substitution - Nonsense 17:58358221-58358221 - 1881339 COSM1716830 c.16C>T p.Q6* Substitution - Nonsense 17:58415562-58415562 - 8047838 COSM3388049 c.988C>T p.R330* Substitution - Nonsense 17:58358788-58358788 - MO_1012 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - T3202 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - TCGA-AD-6895-01 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2432575 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - TCGA-AZ-6598-01 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2432484 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - T3091 COSM4589921 c.2058delC p.S687fs*13 Deletion - Frameshift 17:58357718-58357718 - 2478297 COSM5613072 c.52_53insA p.M18fs*22 Insertion - Frameshift 17:58415525-58415526 - 2244226 COSM4381086 c.457C>T p.Q153* Substitution - Nonsense 17:58363400-58363400 - PCSI_0090_Pa_X COSM3378268 c.954G>T p.E318D Substitution - Missense 17:58358822-58358822 - 8013294 COSM3388051 c.649G>A p.V217M Substitution - Missense 17:58362582-58362582 - T3174 COSM4589925 c.1436_1437delTG p.V479fs*25 Deletion - Frameshift 17:58358339-58358340 - 1881336 COSM1716829 c.182_183delTG p.L61fs*13 Deletion - Frameshift 17:58415395-58415396 - PCSI_0093_Pa_X COSM3378270 c.272G>C p.C91S Substitution - Missense 17:58371014-58371014 - TCGA-BG-A0M2-01 COSM981862 c.856C>T p.R286W Substitution - Missense 17:58360245-58360245 - 2432550 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2432492 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - TCGA-AD-6889-01 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - TCGA-EE-A29B-06 COSM3520123 c.2232T>A p.P744P Substitution - coding silent 17:58357544-58357544 - 2478269 COSM5613065 c.512_513insA p.L172fs*16 Insertion - Frameshift 17:58363344-58363345 - TCGA-G4-6628-01 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - TCGA-D1-A0ZS-01 COSM981867 c.548A>G p.H183R Substitution - Missense 17:58363309-58363309 - 345973 COSM3726697 c.434G>A p.R145Q Substitution - Missense 17:58363542-58363542 - CHC1154T COSM4952267 c.1826G>T p.R609L Substitution - Missense 17:58357950-58357950 - 108 COSM3733214 c.?_?ins? p.R117fs*8 Unknown 2432477 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - B89-5-Tumor COSM3932678 c.1435G>T p.V479L Substitution - Missense 17:58358341-58358341 - T3202 COSM4589927 c.2055C>A p.T685T Substitution - coding silent 17:58357721-58357721 - 2478310 COSM5613074 c.114_115insT p.E39fs*1 Insertion - Frameshift 17:58415463-58415464 - I2L-P19Tb-Tumor-Organoid COSM5367908 c.1065_1066insT p.A356fs*87 Insertion - Frameshift 17:58358710-58358711 - 2432474 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - LS411 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - TCGA-06-2562-01 COSM2152805 c.1800A>C p.R600S Substitution - Missense 17:58357976-58357976 - 2478210 COSM3195650 c.508G>A p.E170K Substitution - Missense 17:58363349-58363349 - 2361996 COSM4972296 c.? p.K560fs Frameshift TCGA-27-2528-01 COSM3195646 c.674G>A p.R225H Substitution - Missense 17:58362557-58362557 - I2L-P7-Tumor-Organoid COSM5364354 c.2007C>A p.P669P Substitution - coding silent 17:58357769-58357769 - B101 COSM1750193 c.121T>A p.S41T Substitution - Missense 17:58415457-58415457 - MCN170 COSM249106 c.122C>G p.S41* Substitution - Nonsense 17:58415456-58415456 - TCGA-AA-3715-01 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - TCGA-AZ-4615-01 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2432572 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - Pat_11_A COSM5853091 c.1286C>T p.A429V Substitution - Missense 17:58358490-58358490 - HCT-15 COSM1679951 c.640C>A p.L214M Substitution - Missense 17:58362591-58362591 - PT33 COSM5909622 c.2215C>T p.P739S Substitution - Missense 17:58357561-58357561 - 2432571 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2432573 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - Pat_41_A COSM3195614 c.1885G>A p.A629T Substitution - Missense 17:58357891-58357891 - T3670 COSM4589931 c.599G>A p.W200* Substitution - Nonsense 17:58362632-58362632 - XPA31PT COSM1579884 c.1621G>A p.E541K Substitution - Missense 17:58358155-58358155 - TCGA-ED-A459-01 COSM4935606 c.1730A>T p.Q577L Substitution - Missense 17:58358046-58358046 - TCGA-AP-A051-01 COSM981869 c.460C>T p.P154S Substitution - Missense 17:58363397-58363397 - 2432560 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - T31 COSM5618411 c.139A>G p.I47V Substitution - Missense 17:58415439-58415439 - TCGA-BH-A18P-01 COSM437000 c.1820C>T p.S607L Substitution - Missense 17:58357956-58357956 - T3174 COSM248855 c.505G>A p.A169T Substitution - Missense 17:58363352-58363352 - TCGA-B5-A11E-01 COSM981868 c.461C>T p.P154L Substitution - Missense 17:58363396-58363396 - TCGA-AA-A010-01 COSM284639 c.647C>T p.S216L Substitution - Missense 17:58362584-58362584 - pfg115T COSM4747296 c.864_885del22 p.S289fs*123 Deletion - Frameshift 17:58360216-58360237 - CSCC-31-T COSM4528552 c.1546G>A p.D516N Substitution - Missense 17:58358230-58358230 - TCGA-A6-6653-01 COSM1384748 c.1975_1976delGG p.G659fs*87 Deletion - Frameshift 17:58357800-58357801 - TCGA-CM-6674-01 COSM1384762 c.349delC p.R117fs*41 Deletion - Frameshift 17:58370937-58370937 - 2432565 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - Gp5D COSM3195603 c.2311T>A p.S771T Substitution - Missense 17:58354984-58354984 - 2432482 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2478365 COSM5613067 c.79C>T p.R27C Substitution - Missense 17:58415499-58415499 - HPAF-II COSM1716824 c.520G>T p.E174* Substitution - Nonsense 17:58363337-58363337 - pfg016T COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2432479 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2432559 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - MCN168 COSM249075 c.380G>C p.R127P Substitution - Missense 17:58363596-58363596 - 135fp COSM3733212 c.? p.S321I Substitution - Missense STC232 COSM5055636 c.887G>A p.R296H Substitution - Missense 17:58360214-58360214 - TARGET-30-PATINJ COSM1287671 c.554G>T p.R185M Substitution - Missense 17:58363303-58363303 - 2244231 COSM4381089 c.1087_1087delC p.R363fs*56 Deletion - Frameshift 17:58358689-58358689 - pfg092T COSM4765799 c.261_262insC p.L88fs*8 Insertion - Frameshift 17:58371024-58371025 - TCGA-DA-A1IC-06 COSM3520122 c.2325C>T p.L775L Substitution - coding silent 17:58354970-58354970 - cSCCP7 COSM140146 c.689A>T p.D230V Substitution - Missense 17:58360943-58360943 - U044 COSM308138 c.500A>T p.N167I Substitution - Missense 17:58363357-58363357 - T276 COSM4589915 c.354delC p.C119fs*39 Deletion - Frameshift 17:58370932-58370932 - 2432473 COSM1384762 c.349delC p.R117fs*41 Deletion - Frameshift 17:58370937-58370937 - LS174T COSM3195637 c.1166G>A p.R389H Substitution - Missense 17:58358610-58358610 - 2432569 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 8067541 COSM981870 c.394C>T p.R132* Substitution - Nonsense 17:58363582-58363582 - 2478315 COSM5613078 c.122C>A p.S41* Substitution - Nonsense 17:58415456-58415456 - PDA_064 COSM5001338 c.2338_2339insTTCG p.E780fs*>6 Insertion - Frameshift 17:58354956-58354957 - 2432550 COSM1384762 c.349delC p.R117fs*41 Deletion - Frameshift 17:58370937-58370937 - 2432570 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2432493 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 1881338 COSM1716831 c.1392_1393insCAGT p.D465fs*2 Insertion - Frameshift 17:58358383-58358384 - 46M COSM5588832 c.1152C>T p.G384G Substitution - coding silent 17:58358624-58358624 - STC246 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2478312 COSM5613076 c.154_158CCCTT>GGG p.P52fs*22 Complex - frameshift 17:58415420-58415424 - LUAD-YINHD COSM349389 c.324G>T p.K108N Substitution - Missense 17:58370962-58370962 - XPA33PT COSM1579884 c.1621G>A p.E541K Substitution - Missense 17:58358155-58358155 - TCGA-AP-A0LT-01 COSM981873 c.64C>T p.Q22* Substitution - Nonsense 17:58415514-58415514 - DLD1 COSM1734865 c.1977delT p.S661fs*39 Deletion - Frameshift 17:58357799-58357799 - 2478306 COSM3195650 c.508G>A p.E170K Substitution - Missense 17:58363349-58363349 - sysucc-936T COSM5453600 c.418G>T p.D140Y Substitution - Missense 17:58363558-58363558 - 2478257 COSM5613063 c.35_41delTCTGGCC p.L12fs*4 Deletion - Frameshift 17:58415537-58415543 - TCGA-CM-6162-01 COSM248786 c.433C>T p.R145* Substitution - Nonsense 17:58363543-58363543 - SW48 COSM1384754 c.896_897delTG p.V299fs*143 Deletion - Frameshift 17:58360204-58360205 - T2197 COSM1384754 c.896_897delTG p.V299fs*143 Deletion - Frameshift 17:58360204-58360205 - 2432552 COSM1384762 c.349delC p.R117fs*41 Deletion - Frameshift 17:58370937-58370937 - CCK81 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2432486 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2432483 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2432563 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - RKO COSM4269348 c.1645C>A p.H549N Substitution - Missense 17:58358131-58358131 - 2432553 COSM1384762 c.349delC p.R117fs*41 Deletion - Frameshift 17:58370937-58370937 - 2432553 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - PCSI_0090_Pa_P COSM3378268 c.954G>T p.E318D Substitution - Missense 17:58358822-58358822 - T368 COSM3195627 c.1556G>A p.R519Q Substitution - Missense 17:58358220-58358220 - A159 COSM248969 c.337C>T p.R113* Substitution - Nonsense 17:58370949-58370949 - PDA_108 COSM981870 c.394C>T p.R132* Substitution - Nonsense 17:58363582-58363582 - TCGA-66-2773-01 COSM706682 c.2241G>A p.W747* Substitution - Nonsense 17:58357535-58357535 - 2318491 COSM4776595 c.2257G>C p.E753Q Substitution - Missense 17:58357519-58357519 - CSCC-62-T COSM4472592 c.1794C>T p.V598V Substitution - coding silent 17:58357982-58357982 - IPMN11 COSM248786 c.433C>T p.R145* Substitution - Nonsense 17:58363543-58363543 - TCGA-AZ-4615-01 COSM3691712 c.199G>T p.G67C Substitution - Missense 17:58415379-58415379 - pfg247T COSM4755836 c.503A>T p.D168V Substitution - Missense 17:58363354-58363354 - TCGA-AM-5820-01 COSM3755721 c.350G>A p.R117H Substitution - Missense 17:58370936-58370936 - 136fp COSM3733213 c.? p.R371* Substitution - Nonsense 8058303 COSM4387790 c.49C>A p.L17M Substitution - Missense 17:58415529-58415529 - SH-7166 COSM3755721 c.350G>A p.R117H Substitution - Missense 17:58370936-58370936 - BD55T COSM5509543 c.777G>A p.W259* Substitution - Nonsense 17:58360855-58360855 - 2478208 COSM3195627 c.1556G>A p.R519Q Substitution - Missense 17:58358220-58358220 - 2478287 COSM3195627 c.1556G>A p.R519Q Substitution - Missense 17:58358220-58358220 - 68 COSM981868 c.461C>T p.P154L Substitution - Missense 17:58363396-58363396 - TCGA-CM-5861-01 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - TCGA-D1-A17R-01 COSM981859 c.1070A>G p.Y357C Substitution - Missense 17:58358706-58358706 - 2478296 COSM5613071 c.238G>A p.G80R Substitution - Missense 17:58415340-58415340 - KM12 COSM3195638 c.1047C>T p.A349A Substitution - coding silent 17:58358729-58358729 - 2432558 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2432568 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - TCGA-BR-4368-01 COSM4068162 c.1428T>C p.S476S Substitution - coding silent 17:58358348-58358348 - ESO-191 COSM1264402 c.2058C>T p.P686P Substitution - coding silent 17:58357718-58357718 - 2432551 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2432478 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - T8 COSM5618411 c.139A>G p.I47V Substitution - Missense 17:58415439-58415439 - TCGA-G4-6299-01 COSM1384755 c.883delC p.H295fs*124 Deletion - Frameshift 17:58360218-58360218 - SNU-C2B COSM3195649 c.562C>T p.L188L Substitution - coding silent 17:58363295-58363295 - T3174 COSM4589924 c.1788G>A p.Q596Q Substitution - coding silent 17:58357988-58357988 - TCGA-G4-6586-01 COSM1384762 c.349delC p.R117fs*41 Deletion - Frameshift 17:58370937-58370937 - TCGA-AD-6889-01 COSM1384747 c.2090A>G p.H697R Substitution - Missense 17:58357686-58357686 - TCGA-BG-A0LX-01 COSM981871 c.254C>T p.S85F Substitution - Missense 17:58371032-58371032 - TCGA-G4-6628-01 COSM1384757 c.375G>T p.K125N Substitution - Missense 17:58370911-58370911 - 2478310 COSM5613075 c.144C>G p.I48M Substitution - Missense 17:58415434-58415434 - 2432472 COSM1384762 c.349delC p.R117fs*41 Deletion - Frameshift 17:58370937-58370937 - LS180 COSM3195637 c.1166G>A p.R389H Substitution - Missense 17:58358610-58358610 - T3724 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 8047575 COSM248786 c.433C>T p.R145* Substitution - Nonsense 17:58363543-58363543 - HT115 COSM3195632 c.1340G>A p.G447E Substitution - Missense 17:58358436-58358436 - KM12 COSM1734865 c.1977delT p.S661fs*39 Deletion - Frameshift 17:58357799-58357799 - SNU-C4 COSM4589922 c.673delC p.R225fs*194 Deletion - Frameshift 17:58362558-58362558 - CSCC-56-T COSM3520126 c.1419C>T p.G473G Substitution - coding silent 17:58358357-58358357 - T3091 COSM4589920 c.867C>A p.S289S Substitution - coding silent 17:58360234-58360234 - NCI-H716 COSM3195630 c.1416delT p.H472fs*30 Deletion - Frameshift 17:58358360-58358360 - W012 COSM308139 c.2167C>T p.Q723* Substitution - Nonsense 17:58357609-58357609 - PCSI_0476_Pa_P_526 COSM5031354 c.1420T>C p.S474P Substitution - Missense 17:58358356-58358356 - TCGA-AX-A0J1-01 COSM981856 c.1592G>A p.R531H Substitution - Missense 17:58358184-58358184 - TCGA-AA-3672-01 COSM267347 c.248T>C p.M83T Substitution - Missense 17:58415330-58415330 - VLTS-23 COSM5369904 c.804_804delA p.A269fs*150 Deletion - Frameshift 17:58360828-58360828 - TCGA-F4-6570-01 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - T407 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - TCGA-AD-6889-01 COSM1384760 c.350delG p.R117fs*41 Deletion - Frameshift 17:58370936-58370936 - RKO COSM1734865 c.1977delT p.S661fs*39 Deletion - Frameshift 17:58357799-58357799 - pfg127T COSM1734865 c.1977delT p.S661fs*39 Deletion - Frameshift 17:58357799-58357799 - PDA_028 COSM4999362 c.557T>C p.I186T Substitution - Missense 17:58363300-58363300 - 2478198 COSM3195627 c.1556G>A p.R519Q Substitution - Missense 17:58358220-58358220 - T3262 COSM4589928 c.1924T>G p.L642V Substitution - Missense 17:58357852-58357852 - 2432562 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - ESO-717 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - TCGA-BR-4368-01 COSM4068160 c.2102G>A p.C701Y Substitution - Missense 17:58357674-58357674 - HCT15 COSM1734865 c.1977delT p.S661fs*39 Deletion - Frameshift 17:58357799-58357799 - A074 COSM308296 c.611C>G p.T204R Substitution - Missense 17:58362620-58362620 - HCT-116 COSM1684517 c.344delC p.R117fs*41 Deletion - Frameshift 17:58370942-58370942 - T3152 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - T3021 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2432481 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - STC291 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - SC_9084 COSM401732 c.496G>T p.G166C Substitution - Missense 17:58363361-58363361 - 2244225 COSM4381085 c.204_205delGT p.F69fs*5 Deletion - Frameshift 17:58415373-58415374 - 587278 COSM1224015 c.1682G>A p.R561Q Substitution - Missense 17:58358094-58358094 - PDA_030 COSM4999483 c.925delT p.C309fs*110 Deletion - Frameshift 17:58360176-58360176 - PD9464a COSM5797339 c.788G>A p.G263E Substitution - Missense 17:58360844-58360844 - B101-Tumor COSM1750193 c.121T>A p.S41T Substitution - Missense 17:58415457-58415457 - 12T COSM3733617 c.420C>G p.D140E Substitution - Missense 17:58363556-58363556 - TCGA-ED-A7XP-01 COSM4913403 c.1940T>A p.L647H Substitution - Missense 17:58357836-58357836 - pfg407T COSM4755837 c.367G>C p.A123P Substitution - Missense 17:58370919-58370919 - VLTS-6 COSM5702826 c.212delG p.G71fs*5 Deletion - Frameshift 17:58415366-58415366 - 2478256 COSM5613062 c.260_261insC p.L88fs*8 Insertion - Frameshift 17:58371025-58371026 - ESCC_BICR_007T COSM437000 c.1820C>T p.S607L Substitution - Missense 17:58357956-58357956 - 2432574 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - PCSI_0302_Pa_P_526 COSM4965293 c.827T>C p.L276P Substitution - Missense 17:58360805-58360805 - 2244228 COSM4381087 c.786_786delA p.S264fs*155 Deletion - Frameshift 17:58360846-58360846 - ASHPC_0034_Pa_P COSM981868 c.461C>T p.P154L Substitution - Missense 17:58363396-58363396 - TCGA-B0-5098-01 COSM1494023 c.52A>G p.M18V Substitution - Missense 17:58415526-58415526 - 2046707 COSM1716834 c.760_760delC p.Q254fs*165 Deletion - Frameshift 17:58360872-58360872 - pfg068T COSM4765798 c.1085_1086insT p.R363fs*80 Insertion - Frameshift 17:58358690-58358691 - PCSI_0340_Pa_P_526 COSM248855 c.505G>A p.A169T Substitution - Missense 17:58363352-58363352 - 61 COSM981855 c.1759C>T p.P587S Substitution - Missense 17:58358017-58358017 - TCGA-A6-5665-01 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - TARGET-30-PASTKC COSM1287672 c.2177G>T p.W726L Substitution - Missense 17:58357599-58357599 - 30T COSM248855 c.505G>A p.A169T Substitution - Missense 17:58363352-58363352 - T3033 COSM4589918 c.239G>A p.G80E Substitution - Missense 17:58415339-58415339 - 8058336 COSM3388053 c.477G>A p.W159* Substitution - Nonsense 17:58363380-58363380 - VLTS-4 COSM981868 c.461C>T p.P154L Substitution - Missense 17:58363396-58363396 - LAU108 COSM235295 c.603C>T p.I201I Substitution - coding silent 17:58362628-58362628 - Au3 COSM3378268 c.954G>T p.E318D Substitution - Missense 17:58358822-58358822 - CHC1598T COSM4788970 c.71G>T p.G24V Substitution - Missense 17:58415507-58415507 - PCSI_0128_Pa_P COSM3378269 c.479C>G p.P160R Substitution - Missense 17:58363378-58363378 - TCGA-FW-A3R5-06 COSM3890062 c.1122C>T p.P374P Substitution - coding silent 17:58358654-58358654 - sysucc-882T COSM5447232 c.576G>C p.P192P Substitution - coding silent 17:58363281-58363281 - 169 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - C135 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - ESO-0459 COSM248786 c.433C>T p.R145* Substitution - Nonsense 17:58363543-58363543 - CHC1598T COSM4788970 c.71G>T p.G24V Substitution - Missense 17:58415507-58415507 - XHDG51C COSM4767729 c.996C>A p.Y332* Substitution - Nonsense 17:58358780-58358780 - 046T COSM1729747 c.898G>T p.D300Y Substitution - Missense 17:58360203-58360203 - T368 COSM1384761 c.349_350insC p.R117fs*8 Insertion - Frameshift 17:58370936-58370937 - T2769 COSM4589916 c.704_705delGA p.R235fs*23 Deletion - Frameshift 17:58360927-58360928 - IPMN36 COSM248896 c.647C>A p.S216* Substitution - Nonsense 17:58362584-58362584 - MO_1262 COSM5562131 c.929C>A p.P310H Substitution - Missense 17:58360172-58360172 - T36 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - TCGA-AU-6004-01 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 119 COSM3733211 c.? p.E258* Substitution - Nonsense SH-102782 COSM3755721 c.350G>A p.R117H Substitution - Missense 17:58370936-58370936 - 2478331 COSM3195627 c.1556G>A p.R519Q Substitution - Missense 17:58358220-58358220 - YURISA COSM5386896 c.1816_1817CC>TT p.P606F Substitution - Missense 17:58357959-58357960 - TCGA-FS-A4FC-06 COSM3520124 c.1729C>T p.Q577* Substitution - Nonsense 17:58358047-58358047 - IPMN21 COSM248855 c.505G>A p.A169T Substitution - Missense 17:58363352-58363352 - I2L-P8-Tumor-Organoid COSM437000 c.1820C>T p.S607L Substitution - Missense 17:58357956-58357956 - T1154 COSM1384754 c.896_897delTG p.V299fs*143 Deletion - Frameshift 17:58360204-58360205 - CSCC-55-T COSM4473527 c.1857C>T p.L619L Substitution - coding silent 17:58357919-58357919 - sysucc-1370T COSM5470718 c.349C>A p.R117S Substitution - Missense 17:58370937-58370937 - 2432554 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - TCGA-AA-A01I-01 COSM287212 c.1484C>A p.S495Y Substitution - Missense 17:58358292-58358292 - 587350 COSM1224019 c.1826G>A p.R609Q Substitution - Missense 17:58357950-58357950 - LIM2405 COSM1734865 c.1977delT p.S661fs*39 Deletion - Frameshift 17:58357799-58357799 - T3262 COSM1384761 c.349_350insC p.R117fs*8 Insertion - Frameshift 17:58370936-58370937 - CSCC-31-T COSM4464180 c.1320C>T p.P440P Substitution - coding silent 17:58358456-58358456 - TCGA-D8-A1XQ-01 COSM3820070 c.181C>A p.L61M Substitution - Missense 17:58415397-58415397 - pfg353T COSM3388053 c.477G>A p.W159* Substitution - Nonsense 17:58363380-58363380 - TCGA-CK-5913-01 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2432487 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2013208 COSM1172444 c.142A>G p.I48V Substitution - Missense 17:58415436-58415436 - 2478284 COSM5613068 c.948_949insTC p.T317fs*103 Insertion - Frameshift 17:58360152-58360153 - TCGA-A8-A09Z-01 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - IPMN12 COSM248811 c.531C>A p.Y177* Substitution - Nonsense 17:58363326-58363326 - MM20T COSM5417543 c.919C>T p.R307W Substitution - Missense 17:58360182-58360182 - TCGA-FS-A1ZN-01 COSM3520127 c.380G>A p.R127Q Substitution - Missense 17:58363596-58363596 - TCGA-CG-5733-01 COSM3388049 c.988C>T p.R330* Substitution - Nonsense 17:58358788-58358788 - I2L-P8-Tumor-Biopsy COSM437000 c.1820C>T p.S607L Substitution - Missense 17:58357956-58357956 - MO_1262 COSM5560059 c.245T>A p.L82* Substitution - Nonsense 17:58415333-58415333 - T3024 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 8013127 COSM981870 c.394C>T p.R132* Substitution - Nonsense 17:58363582-58363582 - ESO-S41 COSM1264401 c.1932_1933insA p.S645fs*102 Insertion - Frameshift 17:58357843-58357844 - TCGA-A6-6649-01 COSM1384753 c.1276C>T p.Q426* Substitution - Nonsense 17:58358500-58358500 - TCGA-25-2393-01 COSM72463 c.352C>A p.P118T Substitution - Missense 17:58370934-58370934 - TCGA-CM-6171-01 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - HCT15 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 587228 COSM1180841 c.832_834delGAG p.E278delE Deletion - In frame 17:58360798-58360800 - 587316 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2432472 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - Gp5D COSM3195615 c.1883A>G p.D628G Substitution - Missense 17:58357893-58357893 - TCGA-BR-4201-01 COSM1384756 c.857G>A p.R286Q Substitution - Missense 17:58360244-58360244 - 61 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - TCGA-13-2059-01 COSM1324938 c.418G>C p.D140H Substitution - Missense 17:58363558-58363558 - TCGA-CM-4746-01 COSM1384752 c.1310G>A p.R437Q Substitution - Missense 17:58358466-58358466 - Gp2D COSM3195615 c.1883A>G p.D628G Substitution - Missense 17:58357893-58357893 - ZZUFHECRKL-G057T COSM5445529 c.512A>G p.K171R Substitution - Missense 17:58363345-58363345 - YUOMEGA COSM5386897 c.1645C>T p.H549Y Substitution - Missense 17:58358131-58358131 - 2244227 COSM3195651 c.491T>A p.I164N Substitution - Missense 17:58363366-58363366 - T263 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - STC297 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - UACC-257 COSM1679952 c.319G>C p.V107L Substitution - Missense 17:58370967-58370967 - 2478278 COSM5613066 c.127G>T p.E43* Substitution - Nonsense 17:58415451-58415451 - IPMN21 COSM248856 c.1111C>T p.R371* Substitution - Nonsense 17:58358665-58358665 - MD-277 COSM303124 c.1948C>T p.R650* Substitution - Nonsense 17:58357828-58357828 - TCGA-EE-A2GJ-06 COSM3520125 c.1687C>T p.Q563* Substitution - Nonsense 17:58358089-58358089 - LUAD-NYU1219 COSM369938 c.1802C>G p.S601C Substitution - Missense 17:58357974-58357974 - 2432577 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - EGC15 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - TCGA-G4-6302-01 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - KM12 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 1N26-VS-1T26 COSM4973505 c.183G>A p.L61L Substitution - coding silent 17:58415395-58415395 - T2944 COSM1384762 c.349delC p.R117fs*41 Deletion - Frameshift 17:58370937-58370937 - pfg057T COSM4755833 c.914A>G p.Q305R Substitution - Missense 17:58360187-58360187 - 587332 COSM1224018 c.424A>G p.T142A Substitution - Missense 17:58363552-58363552 - TCGA-BR-8487-01 COSM4068161 c.1547A>G p.D516G Substitution - Missense 17:58358229-58358229 - S02246 COSM5678908 c.632T>C p.V211A Substitution - Missense 17:58362599-58362599 - IPMN41 COSM248969 c.337C>T p.R113* Substitution - Nonsense 17:58370949-58370949 - 2432551 COSM1384762 c.349delC p.R117fs*41 Deletion - Frameshift 17:58370937-58370937 - 2478231 COSM3733617 c.420C>G p.D140E Substitution - Missense 17:58363556-58363556 - VLTS-2 COSM5702825 c.604delC p.L202fs*1 Deletion - Frameshift 17:58362627-58362627 - 2293777 COSM4609715 c.122delC p.S41fs*1 Deletion - Frameshift 17:58415456-58415456 - T2944 COSM248855 c.505G>A p.A169T Substitution - Missense 17:58363352-58363352 - 12P3 COSM3733617 c.420C>G p.D140E Substitution - Missense 17:58363556-58363556 - 2046688 COSM981862 c.856C>T p.R286W Substitution - Missense 17:58360245-58360245 - TCGA-D1-A17R-01 COSM981854 c.1939C>A p.L647I Substitution - Missense 17:58357837-58357837 - CSCC-16-T COSM4535493 c.2199G>A p.Q733Q Substitution - coding silent 17:58357577-58357577 - TCGA-CK-5913-01 COSM1384761 c.349_350insC p.R117fs*8 Insertion - Frameshift 17:58370936-58370937 - CPCG0083-F1 COSM4880178 c.391G>T p.E131* Substitution - Nonsense 17:58363585-58363585 - SW48 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - STC232 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 8031704 COSM248786 c.433C>T p.R145* Substitution - Nonsense 17:58363543-58363543 - TCGA-HJ-7597-01 COSM981863 c.656G>A p.R219H Substitution - Missense 17:58362575-58362575 - 2432474 COSM1384762 c.349delC p.R117fs*41 Deletion - Frameshift 17:58370937-58370937 - T2941 COSM1384762 c.349delC p.R117fs*41 Deletion - Frameshift 17:58370937-58370937 - IPMN20 COSM248831 c.454C>T p.Q152* Substitution - Nonsense 17:58363403-58363403 - 2432567 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - Capan-2 COSM1716825 c.989_989delG p.R330fs*89 Deletion - Frameshift 17:58358787-58358787 - T3118 COSM3195614 c.1885G>A p.A629T Substitution - Missense 17:58357891-58357891 - TCGA-EB-A41B-01 COSM3195659 c.319G>A p.V107I Substitution - Missense 17:58370967-58370967 - PCSI_0509_Pa_P_526 COSM4962067 c.451-1G>T p.? Unknown 17:58363407-58363407 - PCSI_0465_Pa_P_526 COSM4964595 c.209C>G p.A70G Substitution - Missense 17:58415369-58415369 - TCGA-AA-3956-01 COSM297149 c.987T>A p.S329S Substitution - coding silent 17:58358789-58358789 - 2013209 COSM1684824 c.118_118delA p.R40fs*11 Deletion - Frameshift 17:58415460-58415460 - PaTu8988S COSM1716823 c.206T>G p.F69C Substitution - Missense 17:58415372-58415372 - 1644146 COSM1716835 c.931_932insC p.L311fs*132 Insertion - Frameshift 17:58360169-58360170 - TCGA-BR-8588-01 COSM4068166 c.760C>T p.Q254* Substitution - Nonsense 17:58360872-58360872 - TCGA-FS-A1ZQ-06 COSM3520126 c.1419C>T p.G473G Substitution - coding silent 17:58358357-58358357 - KPOPBR-03-T COSM5965693 c.610A>G p.T204A Substitution - Missense 17:58362621-58362621 - 2478281 COSM5613067 c.79C>T p.R27C Substitution - Missense 17:58415499-58415499 - PCSI_0302_Pa_P_526 COSM4965295 c.583-2A>G p.? Unknown 17:58362650-58362650 - 2432552 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2478325 COSM3195650 c.508G>A p.E170K Substitution - Missense 17:58363349-58363349 - TCGA-BT-A42C-01 COSM4390103 c.1181C>T p.A394V Substitution - Missense 17:58358595-58358595 - T3090 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - T3202 COSM981870 c.394C>T p.R132* Substitution - Nonsense 17:58363582-58363582 - R104 COSM308137 c.355T>C p.C119R Substitution - Missense 17:58370931-58370931 - SH-3133 COSM3755721 c.350G>A p.R117H Substitution - Missense 17:58370936-58370936 - TCGA-D1-A17M-01 COSM981865 c.583-2A>T p.? Unknown 17:58362650-58362650 - CHC1626T COSM4791671 c.1611G>T p.V537V Substitution - coding silent 17:58358165-58358165 - TCGA-39-5031-01 COSM706679 c.726G>A p.Q242Q Substitution - coding silent 17:58360906-58360906 - pfg156T COSM4068168 c.256C>T p.H86Y Substitution - Missense 17:58371030-58371030 - T3091 COSM4589923 c.156_157insC p.K54fs*21 Insertion - Frameshift 17:58415421-58415422 - MCN166 COSM248856 c.1111C>T p.R371* Substitution - Nonsense 17:58358665-58358665 - RMS77_ COSM4988445 c.1811C>A p.A604E Substitution - Missense 17:58357965-58357965 - ACINAR03 COSM1734865 c.1977delT p.S661fs*39 Deletion - Frameshift 17:58357799-58357799 - NCI-H720 COSM3195633 c.1322C>A p.P441H Substitution - Missense 17:58358454-58358454 - CHC1744T COSM4792380 c.1032G>T p.Q344H Substitution - Missense 17:58358744-58358744 - TCGA-A6-6781-01 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - T2944 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - ESO-0292 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2478260 COSM5613064 c.156_156delC p.L53fs*1 Deletion - Frameshift 17:58415422-58415422 - 2478255 COSM5613061 c.224_225insT p.T76fs*20 Insertion - Frameshift 17:58415353-58415354 - ME049T COSM230339 c.1171C>T p.P391S Substitution - Missense 17:58358605-58358605 - TCGA-G3-A7M7-01 COSM3195641 c.893G>A p.C298Y Substitution - Missense 17:58360208-58360208 - 2432561 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - I2L-P19Ta-Tumor-Biopsy COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2244232 COSM4381090 c.1466_1466delG p.V490fs*12 Deletion - Frameshift 17:58358310-58358310 - T595 COSM4589932 c.1214T>C p.L405P Substitution - Missense 17:58358562-58358562 - TCGA-A6-2671-01 COSM1384750 c.1885delG p.A629fs*71 Deletion - Frameshift 17:58357891-58357891 - OVCAR-5 COSM1679950 c.906G>T p.W302C Substitution - Missense 17:58360195-58360195 - LUAD_E01047 COSM390115 c.720C>T p.I240I Substitution - coding silent 17:58360912-58360912 - 1881340 COSM1716832 c.850G>T p.E284* Substitution - Nonsense 17:58360251-58360251 - PCSI_0295_Pa_P_526 COSM4965793 c.397G>A p.G133R Substitution - Missense 17:58363579-58363579 - BD57T COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - T3049 COSM4589919 c.451-1G>A p.? Unknown 17:58363407-58363407 - cSCCP7 COSM140145 c.2173G>T p.V725L Substitution - Missense 17:58357603-58357603 - TCGA-BM-6198-01 COSM5075835 c.134_147del14 p.K45fs*25 Deletion - Frameshift 17:58415431-58415444 - 76629543 COSM1582353 c.581G>A p.W194* Substitution - Nonsense 17:58363276-58363276 - TCGA-56-6545-01 COSM706680 c.1440C>T p.V480V Substitution - coding silent 17:58358336-58358336 - HCT15 COSM1679951 c.640C>A p.L214M Substitution - Missense 17:58362591-58362591 - TCGA-39-5036-01 COSM437000 c.1820C>T p.S607L Substitution - Missense 17:58357956-58357956 - T2197 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - T2940 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - sysucc-1365T COSM248969 c.337C>T p.R113* Substitution - Nonsense 17:58370949-58370949 - T3080 COSM981868 c.461C>T p.P154L Substitution - Missense 17:58363396-58363396 - TCGA-AD-5900-01 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - SNU-C2B COSM4651313 c.1165C>T p.R389C Substitution - Missense 17:58358611-58358611 - 8047865 COSM4389679 c.2265G>T p.R755S Substitution - Missense 17:58357511-58357511 - T3262 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - T207 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - PCSI_0509_Pa_P_526 COSM4381086 c.457C>T p.Q153* Substitution - Nonsense 17:58363400-58363400 - TCGA-CJ-5672-01 COSM473105 c.1595C>T p.S532F Substitution - Missense 17:58358181-58358181 - T3091 COSM4589922 c.673delC p.R225fs*194 Deletion - Frameshift 17:58362558-58362558 - CHC1626T COSM4791671 c.1611G>T p.V537V Substitution - coding silent 17:58358165-58358165 - C086 COSM5538304 c.866C>T p.S289F Substitution - Missense 17:58360235-58360235 - TCGA-CA-5796-01 COSM1384763 c.48delG p.L17fs*1 Deletion - Frameshift 17:58415530-58415530 - TCGA-CG-5733-01 COSM4068164 c.947T>C p.I316T Substitution - Missense 17:58360154-58360154 - DLD1 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 587228 COSM981870 c.394C>T p.R132* Substitution - Nonsense 17:58363582-58363582 - T3610 COSM4589930 c.194delT p.L65fs*11 Deletion - Frameshift 17:58415384-58415384 - 2432488 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 8070202 COSM4389393 c.22C>T p.Q8* Substitution - Nonsense 17:58415556-58415556 - PT33 COSM5909621 c.2044C>T p.P682S Substitution - Missense 17:58357732-58357732 - 2478267 COSM1384755 c.883delC p.H295fs*124 Deletion - Frameshift 17:58360218-58360218 - LP6007394-DNA_A01 COSM5952715 c.1412G>A p.C471Y Substitution - Missense 17:58358364-58358364 - 111 COSM3733209 c.? p.N179K Substitution - Missense BD233T COSM5490640 c.245T>G p.L82* Substitution - Nonsense 17:58415333-58415333 - MOLT-4 COSM1679953 c.305G>A p.G102E Substitution - Missense 17:58370981-58370981 - 8047896 COSM3388052 c.497G>T p.G166V Substitution - Missense 17:58363360-58363360 - 66 COSM5743858 c.1087C>T p.R363W Substitution - Missense 17:58358689-58358689 - TCGA-AD-6895-01 COSM1384762 c.349delC p.R117fs*41 Deletion - Frameshift 17:58370937-58370937 - LS180 COSM3195658 c.322A>G p.K108E Substitution - Missense 17:58370964-58370964 - 113 COSM3733210 c.?_?del p.M18fs*31 Unknown pfg188T COSM4747295 c.1410_1411delCT p.C471fs*6 Deletion - Frameshift 17:58358365-58358366 - 2432476 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 587372 COSM1224017 c.398G>A p.G133E Substitution - Missense 17:58363578-58363578 - PCSI_0083_Pa_P_526 COSM3787382 c.1189C>T p.R397W Substitution - Missense 17:58358587-58358587 - 041T COSM1729131 c.149T>C p.V50A Substitution - Missense 17:58415429-58415429 - sysucc-863T COSM5765236 c.1029C>T p.R343R Substitution - coding silent 17:58358747-58358747 - TCGA-F4-6856-01 COSM1384762 c.349delC p.R117fs*41 Deletion - Frameshift 17:58370937-58370937 - CSCC-44-T COSM4471885 c.1747C>G p.P583A Substitution - Missense 17:58358029-58358029 - 8033691 COSM3388049 c.988C>T p.R330* Substitution - Nonsense 17:58358788-58358788 - ME011T COSM224530 c.955G>A p.G319R Substitution - Missense 17:58358821-58358821 - XHDG53C COSM4767730 c.2085G>T p.E695D Substitution - Missense 17:58357691-58357691 - TCGA-AP-A059-01 COSM981857 c.1555C>T p.R519* Substitution - Nonsense 17:58358221-58358221 - 2244230 COSM1716835 c.931_932insC p.L311fs*132 Insertion - Frameshift 17:58360169-58360170 - CCK81 COSM4269343 c.1984G>A p.E662K Substitution - Missense 17:58357792-58357792 - DLD1 COSM1679951 c.640C>A p.L214M Substitution - Missense 17:58362591-58362591 - TCGA-EE-A2GR-06 COSM3195635 c.1302C>T p.P434P Substitution - coding silent 17:58358474-58358474 - TCGA-BH-A18G-01 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - PTC-7C COSM4130449 c.1252C>A p.L418M Substitution - Missense 17:58358524-58358524 - PDA_057 COSM5000981 c.31G>T p.A11S Substitution - Missense 17:58415547-58415547 - 2478313 COSM5613077 c.982_984CCC>TCTTACCAAG p.P328fs*117 Complex - frameshift 17:58358792-58358794 - TCGA-AD-6895-01 COSM1384751 c.1706C>A p.P569H Substitution - Missense 17:58358070-58358070 - HCT-116 COSM1384762 c.349delC p.R117fs*41 Deletion - Frameshift 17:58370937-58370937 - TCGA-G4-6588-01 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - TCGA-D5-6930-01 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - TCGA-AP-A051-01 COSM981861 c.906delG p.W302fs*117 Deletion - Frameshift 17:58360195-58360195 - 2432555 COSM1384762 c.349delC p.R117fs*41 Deletion - Frameshift 17:58370937-58370937 - TCGA-22-5471-01 COSM706681 c.2087C>T p.A696V Substitution - Missense 17:58357689-58357689 - TCGA-EE-A2MJ-06 COSM3890061 c.1633T>C p.S545P Substitution - Missense 17:58358143-58358143 - HCT116 COSM1384762 c.349delC p.R117fs*41 Deletion - Frameshift 17:58370937-58370937 - 2334199 COSM323095 c.1703A>T p.K568M Substitution - Missense 17:58358073-58358073 - 587234 COSM981870 c.394C>T p.R132* Substitution - Nonsense 17:58363582-58363582 - ESOSCC157T COSM1172444 c.142A>G p.I48V Substitution - Missense 17:58415436-58415436 - TCGA-EA-A5FO-01 COSM4851863 c.1884C>T p.D628D Substitution - coding silent 17:58357892-58357892 - HCC73T COSM1610538 c.1458_1466delCCTACAGGG p.S486_G489>R Complex - deletion inframe 17:58358310-58358318 - 2478286 COSM5613070 c.461_462insC p.L155fs*13 Insertion - Frameshift 17:58363395-58363396 - TCGA-AA-3555-01 COSM284639 c.647C>T p.S216L Substitution - Missense 17:58362584-58362584 - EGC3 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2432485 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - LS174T COSM3195658 c.322A>G p.K108E Substitution - Missense 17:58370964-58370964 - TCGA-C5-A1BQ-01 COSM4842748 c.1725C>T p.V575V Substitution - coding silent 17:58358051-58358051 - TCGA-B5-A11N-01 COSM981860 c.1009C>T p.R337* Substitution - Nonsense 17:58358767-58358767 - T3498 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - TCGA-D9-A6EC-06 COSM4404964 c.2095T>G p.L699V Substitution - Missense 17:58357681-58357681 - ESCC_11 COSM5649991 c.2298_2300delGGC p.A767delA Deletion - In frame 17:58357476-58357478 - 2432491 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 2432473 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - LUAD-5V8LT COSM401732 c.496G>T p.G166C Substitution - Missense 17:58363361-58363361 - TCGA-06-2562 COSM2152805 c.1800A>C p.R600S Substitution - Missense 17:58357976-58357976 - 2046708 COSM981860 c.1009C>T p.R337* Substitution - Nonsense 17:58358767-58358767 - 61 COSM981870 c.394C>T p.R132* Substitution - Nonsense 17:58363582-58363582 - HCT116 COSM1384762 c.349delC p.R117fs*41 Deletion - Frameshift 17:58370937-58370937 - TCGA-CK-5916-01 COSM1384758 c.354_355insC p.C119fs*6 Insertion - Frameshift 17:58370931-58370932 - 8044522 COSM981862 c.856C>T p.R286W Substitution - Missense 17:58360245-58360245 - TCGA-BS-A0U8-01 COSM437000 c.1820C>T p.S607L Substitution - Missense 17:58357956-58357956 - TCGA-A6-6653-01 COSM1180841 c.832_834delGAG p.E278delE Deletion - In frame 17:58360798-58360800 - TCGA-AP-A0LM-01 COSM981870 c.394C>T p.R132* Substitution - Nonsense 17:58363582-58363582 - CHC1154T COSM4952267 c.1826G>T p.R609L Substitution - Missense 17:58357950-58357950 - 526T COSM4386091 c.859G>T p.V287F Substitution - Missense 17:58360242-58360242 - WA16 COSM238104 c.504C>T p.D168D Substitution - coding silent 17:58363353-58363353 - pfg008T COSM176982 c.245T>C p.L82S Substitution - Missense 17:58415333-58415333 - TCGA-A5-A0RA-01 COSM981864 c.648G>A p.S216S Substitution - coding silent 17:58362583-58362583 - 2432480 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - BD124T COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - LS174T COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - pfg181T COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - T2940 COSM4589917 c.343delG p.A115fs*43 Deletion - Frameshift 17:58370943-58370943 - pfg213T COSM4755838 c.257A>G p.H86R Substitution - Missense 17:58371029-58371029 - T613 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - CSCC-44-T COSM4470439 c.1660C>G p.R554G Substitution - Missense 17:58358116-58358116 - 39 COSM5733824 c.2216_2217ins17 p.G741fs*>49 Insertion - Frameshift 17:58357559-58357560 - PCSI_0590_Pa_P_526 COSM5760864 c.1425delC p.S476fs*26 Deletion - Frameshift 17:58358351-58358351 - TCGA-AD-6964-01 COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - I2L-P19Ta-Tumor-Organoid COSM270052 c.1976delG p.G659fs*41 Deletion - Frameshift 17:58357800-58357800 - 8012854 COSM3388050 c.926G>T p.C309F Substitution - Missense 17:58360175-58360175 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.584916 17q22 612482

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.I316T c.947T>C 17 56437515 STAD A G Missense p.L82S c.245T>C 17 56492694 STAD A G Missense p.M173T c.518T>C 17 56440700 RCCC A G Missense p.S545P c.1633T>C 17 56435504 CM A G Synonymous p.P530P c.1590T>C 17 56435547 COREAD A G Synonymous p.S476S c.1428T>C 17 56435709 STAD - AT Frameshift p.R145Ifs*14 c.431_432dupAT 17 56440904 LUAD A T Synonymous p.P744P c.2232T>A 17 56434905 CM A T Synonymous p.S329S c.987T>A 17 56436150 COREAD C A Missense p.A35S c.103G>T 17 56492836 BRCA C A Missense p.R185M c.554G>T 17 56440664 NB C A Missense p.W726L c.2177G>T 17 56434960 NB C A Nonsense p.E277* c.829G>T 17 56438164 STAD C - Frameshift p.G659Vfs*41 c.1976delG 17 56435161 STAD C G Missense p.G754R c.2260G>C 17 56434877 PRAD C G SpliceDonorSNV . c.687+1G>C 17 56439904 LUAD C T Missense p.C701Y c.2102G>A 17 56435035 STAD C T Missense p.G67S c.199G>A 17 56492740 CM C T Missense p.R225H c.674G>A 17 56439918 GBM C T Missense p.R286Q c.857G>A 17 56437605 STAD C T Nonsense p.W747* c.2241G>A 17 56434896 LUSC C T Synonymous p.L157L c.471G>A 17 56440747 HNSC C T Synonymous p.P760P c.2280G>A 17 56434857 STAD C T Synonymous p.Q242Q c.726G>A 17 56438267 LUSC C T Synonymous p.S216S c.648G>A 17 56439944 UCEC G A Missense p.A696V c.2087C>T 17 56435050 LUSC G A Missense p.P229S c.685C>T 17 56439907 STAD G A Missense p.P587S c.1759C>T 17 56435378 UCEC G A Missense p.P669L c.2006C>T 17 56435131 CM G A Missense p.P715L c.2144C>T 17 56434993 LUAD G A Missense p.P756L c.2267C>T 17 56434870 LUAD G A Missense p.R286W c.856C>T 17 56437606 UCEC G A Missense p.S532F c.1595C>T 17 56435542 RCCC G A Missense p.S607L c.1820C>T 17 56435317 LUSC G A Missense p.S607L c.1820C>T 17 56435317 UCEC G A Missense p.S85F c.254C>T 17 56448393 UCEC G A Missense p.T308I c.923C>T 17 56437539 LUAD G A Nonsense p.Q22* c.64C>T 17 56492875 UCEC G A Nonsense p.Q563* c.1687C>T 17 56435450 CM G A Nonsense p.R145* c.433C>T 17 56440904 ESCA G A Nonsense p.R330* c.988C>T 17 56436149 STAD G A Nonsense p.R337* c.1009C>T 17 56436128 ESCA G A Nonsense p.R519* c.1555C>T 17 56435582 LGG G A Synonymous p.G473G c.1419C>T 17 56435718 CM G A Synonymous p.L775L c.2325C>T 17 56432331 CM G A Synonymous p.P191P c.573C>T 17 56440645 UCEC G A Synonymous p.P434P c.1302C>T 17 56435835 CM G A Synonymous p.P686P c.2058C>T 17 56435079 ESCA G A Synonymous p.V480V c.1440C>T 17 56435697 LUSC G C Missense p.A146G c.437C>G 17 56440900 OV - G Frameshift p.A463Sfs*3 c.1385dupC 17 56435752 RCCC - G Frameshift p.S546Qfs*50 c.1635dupC 17 56435502 LUAD - G Frameshift p.S546Qfs*50 c.1635dupC 17 56435502 PRAD GGGATCCCCTTTA - Frameshift p.K514Sfs*9 c.1539_1551delTAAAGGGGATCCC 17 56435586 BRCA G T Missense p.P118T c.352C>A 17 56448295 OV G T Missense p.S495Y c.1484C>A 17 56435653 COREAD G T Nonsense p.Y457* c.1371C>A 17 56435766 STAD T A Missense p.K568M c.1703A>T 17 56435434 SCLC T A SpliceAcceptorSNV . c.583-2A>T 17 56440011 UCEC T C Missense p.H86R c.257A>G 17 56448390 STAD T C Missense p.T673A c.2017A>G 17 56435120 LUAD T C Synonymous p.G80G c.240A>G 17 56492699 GBM - T Frameshift p.S645Ifs*102 c.1932dupA 17 56435205 ESCA T G Missense p.R600S c.1800A>C 17 56435337 GBM