Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 18 19321641 19321641 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr18:19321641G>A c.97G>A c.(97-99)Gag>Aag p.E33K BLCA 18 19321658 19321658 + Silent SNP C C G TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr18:19321658C>G c.114C>G c.(112-114)acC>acG p.T38T BLCA 18 19321721 19321721 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 g.chr18:19321721C>T c.177C>T c.(175-177)aaC>aaT p.N59N BLCA 18 19345737 19345737 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 g.chr18:19345737C>T c.234C>T c.(232-234)atC>atT p.I78I BLCA 18 19345741 19345741 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 g.chr18:19345741C>G c.238C>G c.(238-240)Cat>Gat p.H80D BLCA 18 19358105 19358105 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr18:19358105C>G c.678C>G c.(676-678)ttC>ttG p.F226L BLCA 18 19359586 19359586 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 g.chr18:19359586G>C c.848G>C c.(847-849)gGa>gCa p.G283A BLCA 18 19378188 19378188 + Splice_Site SNP T T A TCGA-E7-A541-01A-11D-A26M-08 TCGA-E7-A541-10A-01D-A26K-08 g.chr18:19378188T>A c.1236T>A c.(1234-1236)ggT>ggA p.G412G BLCA 18 19395622 19395622 + Missense_Mutation SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 g.chr18:19395622G>A c.1525G>A c.(1525-1527)Gaa>Aaa p.E509K BLCA 18 19427037 19427037 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr18:19427037G>A c.2344G>A c.(2344-2346)Gat>Aat p.D782N BLCA 18 19429163 19429163 + Silent SNP A A G TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr18:19429163A>G c.2400A>G c.(2398-2400)caA>caG p.Q800Q BLCA 18 19444545 19444545 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 g.chr18:19444545G>A c.2939G>A c.(2938-2940)gGa>gAa p.G980E BLCA 18 19444607 19444607 + Nonsense_Mutation SNP C C T TCGA-E7-A5KE-01A-11D-A289-08 TCGA-E7-A5KE-10A-01D-A289-08 g.chr18:19444607C>T c.3001C>T c.(3001-3003)Cga>Tga p.R1001* BRCA 18 19348649 19348649 + Missense_Mutation SNP G G C TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 g.chr18:19348649G>C c.467G>C c.(466-468)aGa>aCa p.R156T BRCA 18 19353670 19353670 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr18:19353670G>A c.617G>A c.(616-618)aGa>aAa p.R206K BRCA 18 19371349 19371349 + Missense_Mutation SNP C C T TCGA-AR-A1AJ-01A-21D-A12Q-09 TCGA-AR-A1AJ-10A-01D-A12Q-09 g.chr18:19371349C>T c.923C>T c.(922-924)cCt>cTt p.P308L BRCA 18 19371401 19371401 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr18:19371401T>G c.975T>G c.(973-975)ggT>ggG p.G325G BRCA 18 19424122 19424122 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr18:19424122C>G c.2119C>G c.(2119-2121)Cta>Gta p.L707V BRCA 18 19426998 19426998 + Nonsense_Mutation SNP C C T TCGA-B6-A0I2-01A-11W-A050-09 TCGA-B6-A0I2-10A-01W-A055-09 g.chr18:19426998C>T c.2305C>T c.(2305-2307)Cga>Tga p.R769* BRCA 18 19438538 19438538 + Missense_Mutation SNP C C G TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 g.chr18:19438538C>G c.2811C>G c.(2809-2811)gaC>gaG p.D937E BRCA 18 19438554 19438554 + Missense_Mutation SNP G G A TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 g.chr18:19438554G>A c.2827G>A c.(2827-2829)Gtc>Atc p.V943I CESC 18 19359615 19359615 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr18:19359615G>A c.877G>A c.(877-879)Gac>Aac p.D293N CESC 18 19418375 19418375 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 g.chr18:19418375G>A c.1879G>A c.(1879-1881)Gag>Aag p.E627K COAD 18 19321667 19321667 + Missense_Mutation SNP C C A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr18:19321667C>A c.123C>A c.(121-123)agC>agA p.S41R COAD 18 19353627 19353627 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr18:19353627G>A c.574G>A c.(574-576)Gca>Aca p.A192T COAD 18 19359513 19359513 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr18:19359513G>A c.775G>A c.(775-777)Gaa>Aaa p.E259K COAD 18 19378063 19378063 + Nonsense_Mutation SNP C C T TCGA-A6-5662-01A-01D-1650-10 TCGA-A6-5662-10A-01D-1650-10 g.chr18:19378063C>T c.1111C>T c.(1111-1113)Cga>Tga p.R371* COAD 18 19378063 19378063 + Nonsense_Mutation SNP C C T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr18:19378063C>T c.1111C>T c.(1111-1113)Cga>Tga p.R371* COAD 18 19378063 19378063 + Nonsense_Mutation SNP C C T TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr18:19378063C>T c.1111C>T c.(1111-1113)Cga>Tga p.R371* COAD 18 19378064 19378064 + Missense_Mutation SNP G G T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr18:19378064G>T c.1112G>T c.(1111-1113)cGa>cTa p.R371L COAD 18 19378065 19378065 + Silent SNP A A G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr18:19378065A>G c.1113A>G c.(1111-1113)cgA>cgG p.R371R COAD 18 19383882 19383882 + Silent SNP T T C TCGA-A6-6138-01A-11D-1771-10 TCGA-A6-6138-10A-01D-1771-10 g.chr18:19383882T>C c.1386T>C c.(1384-1386)tgT>tgC p.C462C COAD 18 19424072 19424072 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr18:19424072C>T c.2069C>T c.(2068-2070)gCc>gTc p.A690V COAD 18 19427018 19427018 + Silent SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr18:19427018G>A c.2325G>A c.(2323-2325)tcG>tcA p.S775S COAD 18 19429214 19429214 + Silent SNP A A G TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr18:19429214A>G c.2451A>G c.(2449-2451)gaA>gaG p.E817E COAD 18 19429214 19429214 + Silent SNP A A G TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr18:19429214A>G c.2451A>G c.(2449-2451)gaA>gaG p.E817E COAD 18 19444495 19444495 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr18:19444495C>T c.2889C>T c.(2887-2889)tgC>tgT p.C963C COADREAD 18 19321667 19321667 + Missense_Mutation SNP C C A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr18:19321667C>A c.123C>A c.(121-123)agC>agA p.S41R COADREAD 18 19348680 19348680 + Missense_Mutation SNP A A T TCGA-AG-3731-01A-11D-1733-10 TCGA-AG-3731-11A-01D-1733-10 g.chr18:19348680A>T c.498A>T c.(496-498)gaA>gaT p.E166D COADREAD 18 19353627 19353627 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr18:19353627G>A c.574G>A c.(574-576)Gca>Aca p.A192T COADREAD 18 19359513 19359513 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:19359513G>A c.775G>A c.(775-777)Gaa>Aaa p.E259K COADREAD 18 19359513 19359513 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr18:19359513G>A c.775G>A c.(775-777)Gaa>Aaa p.E259K COADREAD 18 19378063 19378063 + Nonsense_Mutation SNP C C T TCGA-A6-5662-01A-01D-1650-10 TCGA-A6-5662-10A-01D-1650-10 g.chr18:19378063C>T c.1111C>T c.(1111-1113)Cga>Tga p.R371* COADREAD 18 19378063 19378063 + Nonsense_Mutation SNP C C T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr18:19378063C>T c.1111C>T c.(1111-1113)Cga>Tga p.R371* COADREAD 18 19378063 19378063 + Nonsense_Mutation SNP C C T TCGA-F5-6465-01A-11D-1733-10 TCGA-F5-6465-10A-01D-1733-10 g.chr18:19378063C>T c.1111C>T c.(1111-1113)Cga>Tga p.R371* COADREAD 18 19378063 19378063 + Nonsense_Mutation SNP C C T TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr18:19378063C>T c.1111C>T c.(1111-1113)Cga>Tga p.R371* COADREAD 18 19378064 19378064 + Missense_Mutation SNP G G T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr18:19378064G>T c.1112G>T c.(1111-1113)cGa>cTa p.R371L COADREAD 18 19378065 19378065 + Silent SNP A A G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr18:19378065A>G c.1113A>G c.(1111-1113)cgA>cgG p.R371R COADREAD 18 19383882 19383882 + Silent SNP T T C TCGA-A6-6138-01A-11D-1771-10 TCGA-A6-6138-10A-01D-1771-10 g.chr18:19383882T>C c.1386T>C c.(1384-1386)tgT>tgC p.C462C COADREAD 18 19424072 19424072 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr18:19424072C>T c.2069C>T c.(2068-2070)gCc>gTc p.A690V COADREAD 18 19427018 19427018 + Silent SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr18:19427018G>A c.2325G>A c.(2323-2325)tcG>tcA p.S775S COADREAD 18 19429197 19429197 + Missense_Mutation SNP G G T TCGA-AG-3883-01A-02W-0899-10 TCGA-AG-3883-10A-01W-0901-10 g.chr18:19429197G>T c.2434G>T c.(2434-2436)Gat>Tat p.D812Y COADREAD 18 19429214 19429214 + Silent SNP A A G TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr18:19429214A>G c.2451A>G c.(2449-2451)gaA>gaG p.E817E COADREAD 18 19429214 19429214 + Silent SNP A A G TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr18:19429214A>G c.2451A>G c.(2449-2451)gaA>gaG p.E817E COADREAD 18 19429285 19429285 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:19429285C>A c.2522C>A c.(2521-2523)tCt>tAt p.S841Y COADREAD 18 19444495 19444495 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr18:19444495C>T c.2889C>T c.(2887-2889)tgC>tgT p.C963C ESCA 18 19429195 19429195 + Missense_Mutation SNP A A T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 g.chr18:19429195A>T c.2432A>T c.(2431-2433)aAt>aTt p.N811I GBM 18 19321653 19321653 + Missense_Mutation SNP G G C TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 g.chr18:19321653G>C c.109G>C c.(109-111)Ggc>Cgc p.G37R GBM 18 19345780 19345780 + Missense_Mutation SNP A A G TCGA-06-0155-01B-01D-1492-08 TCGA-06-0155-10A-01D-1492-08 g.chr18:19345780A>G c.277A>G c.(277-279)Atc>Gtc p.I93V GBM 18 19358097 19358097 + Missense_Mutation SNP G G A TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 g.chr18:19358097G>A c.670G>A c.(670-672)Ggt>Agt p.G224S GBM 18 19395686 19395686 + Missense_Mutation SNP G G A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 g.chr18:19395686G>A c.1589G>A c.(1588-1590)cGa>cAa p.R530Q GBMLGG 18 19321653 19321653 + Missense_Mutation SNP G G C TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 g.chr18:19321653G>C c.109G>C c.(109-111)Ggc>Cgc p.G37R GBMLGG 18 19345780 19345780 + Missense_Mutation SNP A A G TCGA-06-0155-01B-01D-1492-08 TCGA-06-0155-10A-01D-1492-08 g.chr18:19345780A>G c.277A>G c.(277-279)Atc>Gtc p.I93V GBMLGG 18 19358097 19358097 + Missense_Mutation SNP G G A TCGA-19-5953-01B-12D-1845-08 TCGA-19-5953-10A-01D-1845-08 g.chr18:19358097G>A c.670G>A c.(670-672)Ggt>Agt p.G224S GBMLGG 18 19395686 19395686 + Missense_Mutation SNP G G A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 g.chr18:19395686G>A c.1589G>A c.(1588-1590)cGa>cAa p.R530Q GBMLGG 18 19426999 19426999 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:19426999G>A c.2306G>A c.(2305-2307)cGa>cAa p.R769Q HNSC 18 19359503 19359503 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr18:19359503T>C c.765T>C c.(763-765)gaT>gaC p.D255D HNSC 18 19378062 19378062 + Silent SNP C C T TCGA-BB-4223-01A-01D-1434-08 TCGA-BB-4223-10A-01D-1434-08 g.chr18:19378062C>T c.1110C>T c.(1108-1110)ggC>ggT p.G370G HNSC 18 19379870 19379870 + Missense_Mutation SNP G G C TCGA-CR-6471-01A-11D-1870-08 TCGA-CR-6471-10A-01D-1870-08 g.chr18:19379870G>C c.1306G>C c.(1306-1308)Gtt>Ctt p.V436L HNSC 18 19423102 19423102 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr18:19423102A>G c.1973A>G c.(1972-1974)aAc>aGc p.N658S HNSC 18 19424087 19424087 + Missense_Mutation SNP A A T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 g.chr18:19424087A>T c.2084A>T c.(2083-2085)cAg>cTg p.Q695L HNSC 18 19429197 19429197 + Missense_Mutation SNP G G C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 g.chr18:19429197G>C c.2434G>C c.(2434-2436)Gat>Cat p.D812H HNSC 18 19429231 19429231 + Nonsense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr18:19429231C>G c.2468C>G c.(2467-2469)tCa>tGa p.S823* KICH 18 19379923 19379923 + Silent SNP A A G TCGA-KL-8330-01A-11D-2310-10 TCGA-KL-8330-11A-01D-2310-10 g.chr18:19379923A>G c.1359A>G c.(1357-1359)agA>agG p.R453R KIPAN 18 19379923 19379923 + Silent SNP A A G TCGA-KL-8330-01A-11D-2310-10 TCGA-KL-8330-11A-01D-2310-10 g.chr18:19379923A>G c.1359A>G c.(1357-1359)agA>agG p.R453R KIPAN 18 19438539 19438539 + Frame_Shift_Del DEL A A - TCGA-IA-A83W-01A-11D-A34Z-10 TCGA-IA-A83W-11A-11D-A34Z-10 g.chr18:19438539delA c.2812delA c.(2812-2814)aagfs p.K938fs KIRP 18 19438539 19438539 + Frame_Shift_Del DEL A A - TCGA-IA-A83W-01A-11D-A34Z-10 TCGA-IA-A83W-11A-11D-A34Z-10 g.chr18:19438539delA c.2812delA c.(2812-2814)aagfs p.K938fs LGG 18 19426999 19426999 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:19426999G>A c.2306G>A c.(2305-2307)cGa>cAa p.R769Q LIHC 18 19345790 19345790 + Missense_Mutation SNP T T A TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr18:19345790T>A c.287T>A c.(286-288)aTt>aAt p.I96N LIHC 18 19359600 19359600 + Missense_Mutation SNP A A T TCGA-RC-A7SB-01A-21D-A34Z-10 TCGA-RC-A7SB-10A-01D-A34Z-10 g.chr18:19359600A>T c.862A>T c.(862-864)Att>Ttt p.I288F LIHC 18 19383906 19383906 + Silent SNP T T C TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr18:19383906T>C c.1410T>C c.(1408-1410)gcT>gcC p.A470A LIHC 18 19399526 19399526 + Missense_Mutation SNP T T G TCGA-DD-AAW0-01A-11D-A40R-10 TCGA-DD-AAW0-10A-01D-A40U-10 g.chr18:19399526T>G c.1748T>G c.(1747-1749)tTg>tGg p.L583W LIHC 18 19437092 19437092 + Splice_Site SNP C C T TCGA-DD-AAE7-01A-11D-A40R-10 TCGA-DD-AAE7-10A-01D-A40U-10 g.chr18:19437092C>T c.2667C>T c.(2665-2667)aaC>aaT p.N889N LUAD 18 19321594 19321594 + Missense_Mutation SNP G G T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr18:19321594G>T c.50G>T c.(49-51)cGg>cTg p.R17L LUAD 18 19345792 19345792 + Nonsense_Mutation SNP C C T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 g.chr18:19345792C>T c.289C>T c.(289-291)Cga>Tga p.R97* LUAD 18 19348706 19348706 + Missense_Mutation SNP G G T TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr18:19348706G>T c.524G>T c.(523-525)aGg>aTg p.R175M LUAD 18 19348713 19348713 + Splice_Site SNP G G A TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr18:19348713G>A c.531G>A c.(529-531)aaG>aaA p.K177K LUAD 18 19353597 19353597 + Nonsense_Mutation SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 g.chr18:19353597C>T c.544C>T c.(544-546)Cag>Tag p.Q182* LUAD 18 19359454 19359454 + Missense_Mutation SNP G G A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr18:19359454G>A c.716G>A c.(715-717)gGc>gAc p.G239D LUAD 18 19371426 19371426 + Missense_Mutation SNP C C A TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr18:19371426C>A c.1000C>A c.(1000-1002)Caa>Aaa p.Q334K LUAD 18 19399507 19399507 + Missense_Mutation SNP G G C TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr18:19399507G>C c.1729G>C c.(1729-1731)Gat>Cat p.D577H LUAD 18 19399576 19399576 + Silent SNP C C T TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr18:19399576C>T c.1798C>T c.(1798-1800)Ctg>Ttg p.L600L LUAD 18 19424150 19424150 + Missense_Mutation SNP G G T TCGA-73-4668-01A-01D-1265-08 TCGA-73-4668-11A-01D-1265-08 g.chr18:19424150G>T c.2147G>T c.(2146-2148)cGt>cTt p.R716L LUAD 18 19426986 19426986 + Missense_Mutation SNP G G A TCGA-86-8056-01A-11D-2238-08 TCGA-86-8056-10A-01D-2238-08 g.chr18:19426986G>A c.2293G>A c.(2293-2295)Gac>Aac p.D765N LUAD 18 19429241 19429241 + Missense_Mutation SNP G G T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 g.chr18:19429241G>T c.2478G>T c.(2476-2478)aaG>aaT p.K826N LUAD 18 19444611 19444611 + Missense_Mutation SNP G G T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr18:19444611G>T c.3005G>T c.(3004-3006)aGg>aTg p.R1002M LUSC 18 19345762 19345762 + Missense_Mutation SNP A A T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 g.chr18:19345762A>T c.259A>T c.(259-261)Acc>Tcc p.T87S LUSC 18 19379821 19379821 + Silent SNP G G A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 g.chr18:19379821G>A c.1257G>A c.(1255-1257)ctG>ctA p.L419L LUSC 18 19424132 19424132 + Missense_Mutation SNP A A T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr18:19424132A>T c.2129A>T c.(2128-2130)cAc>cTc p.H710L OV 18 19353583 19353589 + Splice_Site DEL AGGTAAC AGGTAAC - TCGA-04-1331-01A-01W-0486-08 TCGA-04-1331-10A-01W-0486-08 g.chr18:19353583_19353589delAGGTAAC c.531_536delAGGTAAC c.(529-537)aaaggtaac>aac p.KG177fs OV 18 19378064 19378064 + Missense_Mutation SNP G G A TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 g.chr18:19378064G>A c.1112G>A c.(1111-1113)cGa>cAa p.R371Q OV 18 19395664 19395664 + Missense_Mutation SNP T T G TCGA-25-1329-01A-01W-0492-08 TCGA-25-1329-10A-01W-0492-08 g.chr18:19395664T>G c.1567T>G c.(1567-1569)Ttg>Gtg p.L523V OV 18 19429212 19429212 + Missense_Mutation SNP G G C TCGA-24-1424-01A-01W-0549-09 TCGA-24-1424-10A-01W-0549-09 g.chr18:19429212G>C c.2449G>C c.(2449-2451)Gaa>Caa p.E817Q PAAD 18 19353645 19353645 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 g.chr18:19353645G>A c.592G>A c.(592-594)Gat>Aat p.D198N PAAD 18 19429284 19429284 + Missense_Mutation SNP T T C TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 g.chr18:19429284T>C c.2521T>C c.(2521-2523)Tct>Cct p.S841P PAAD 18 19437203 19437203 + Splice_Site SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr18:19437203C>T c.2778C>T c.(2776-2778)atC>atT p.I926I PRAD 18 19345871 19345871 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr18:19345871G>A c.368G>A c.(367-369)cGc>cAc p.R123H PRAD 18 19348668 19348668 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr18:19348668C>T c.486C>T c.(484-486)gaC>gaT p.D162D PRAD 18 19395662 19395663 + Frame_Shift_Ins INS - - T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 g.chr18:19395662_19395663insT c.1565_1566insT c.(1564-1569)gatttgfs p.L523fs READ 18 19348680 19348680 + Missense_Mutation SNP A A T TCGA-AG-3731-01A-11D-1733-10 TCGA-AG-3731-11A-01D-1733-10 g.chr18:19348680A>T c.498A>T c.(496-498)gaA>gaT p.E166D READ 18 19359513 19359513 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:19359513G>A c.775G>A c.(775-777)Gaa>Aaa p.E259K READ 18 19378063 19378063 + Nonsense_Mutation SNP C C T TCGA-F5-6465-01A-11D-1733-10 TCGA-F5-6465-10A-01D-1733-10 g.chr18:19378063C>T c.1111C>T c.(1111-1113)Cga>Tga p.R371* READ 18 19429197 19429197 + Missense_Mutation SNP G G T TCGA-AG-3883-01A-02W-0899-10 TCGA-AG-3883-10A-01W-0901-10 g.chr18:19429197G>T c.2434G>T c.(2434-2436)Gat>Tat p.D812Y READ 18 19429285 19429285 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:19429285C>A c.2522C>A c.(2521-2523)tCt>tAt p.S841Y SKCM 18 19353597 19353597 + Nonsense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr18:19353597C>T c.544C>T c.(544-546)Cag>Tag p.Q182* SKCM 18 19359527 19359527 + Silent SNP T T C TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 g.chr18:19359527T>C c.789T>C c.(787-789)tcT>tcC p.S263S SKCM 18 19359612 19359612 + Missense_Mutation SNP C C T TCGA-EE-A2GH-06A-11D-A196-08 TCGA-EE-A2GH-10A-01D-A198-08 g.chr18:19359612C>T c.874C>T c.(874-876)Cat>Tat p.H292Y SKCM 18 19399522 19399522 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr18:19399522C>T c.1744C>T c.(1744-1746)Ctt>Ttt p.L582F SKCM 18 19424197 19424197 + Missense_Mutation SNP G G A TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr18:19424197G>A c.2194G>A c.(2194-2196)Gag>Aag p.E732K SKCM 18 19429261 19429261 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr18:19429261C>T c.2498C>T c.(2497-2499)cCa>cTa p.P833L SKCM 18 19429316 19429316 + Silent SNP C C T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr18:19429316C>T c.2553C>T c.(2551-2553)ctC>ctT p.L851L SKCM 18 19444569 19444569 + Missense_Mutation SNP G G C TCGA-D3-A1Q9-06A-11D-A19A-08 TCGA-D3-A1Q9-10A-01D-A19A-08 g.chr18:19444569G>C c.2963G>C c.(2962-2964)cGc>cCc p.R988P

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 18 19321699 19321699 single base substitution G A intron_variant BLCA-CN 18 19321699 19321699 single base substitution G A stop_gained W52* 155G>A BLCA-US 18 19321641 19321641 single base substitution G A intron_variant BLCA-US 18 19321641 19321641 single base substitution G A missense_variant E33K 97G>A BLCA-US 18 19321721 19321721 single base substitution C T intron_variant BLCA-US 18 19321721 19321721 single base substitution C T synonymous_variant N59N 177C>T BLCA-US 18 19345737 19345737 single base substitution C T exon_variant BLCA-US 18 19345737 19345737 single base substitution C T synonymous_variant I78I 234C>T BLCA-US 18 19345741 19345741 single base substitution C G exon_variant BLCA-US 18 19345741 19345741 single base substitution C G missense_variant H80D 238C>G BLCA-US 18 19359586 19359586 single base substitution G C exon_variant BLCA-US 18 19359586 19359586 single base substitution G C missense_variant G283A 848G>C BLCA-US 18 19427037 19427037 single base substitution G A exon_variant BLCA-US 18 19427037 19427037 single base substitution G A missense_variant D782N 2344G>A BOCA-FR 18 19430874 19430874 single base substitution T G intron_variant BOCA-FR 18 19432773 19432773 single base substitution G A intron_variant BRCA-EU 18 19280954 19280954 single base substitution C G upstream_gene_variant BRCA-EU 18 19280991 19280991 single base substitution T A upstream_gene_variant BRCA-EU 18 19280992 19280992 single base substitution T A upstream_gene_variant BRCA-EU 18 19281447 19281447 single base substitution G A upstream_gene_variant BRCA-EU 18 19281684 19281684 deletion of <=200bp A - upstream_gene_variant BRCA-EU 18 19282251 19282251 insertion of <=200bp - A upstream_gene_variant BRCA-EU 18 19282550 19282550 single base substitution C G upstream_gene_variant BRCA-EU 18 19282710 19282710 single base substitution G C upstream_gene_variant BRCA-EU 18 19282815 19282815 single base substitution T A upstream_gene_variant BRCA-EU 18 19283438 19283438 single base substitution T C upstream_gene_variant BRCA-EU 18 19285849 19285849 single base substitution T C intron_variant BRCA-EU 18 19285871 19285871 single base substitution G A intron_variant BRCA-EU 18 19287280 19287280 single base substitution G A intron_variant BRCA-EU 18 19288399 19288399 single base substitution G C intron_variant BRCA-EU 18 19289471 19289471 single base substitution C T intron_variant BRCA-EU 18 19289657 19289657 single base substitution C T intron_variant BRCA-EU 18 19291771 19291771 single base substitution C T intron_variant BRCA-EU 18 19292597 19292597 single base substitution A G intron_variant BRCA-EU 18 19295346 19295346 single base substitution C T intron_variant BRCA-EU 18 19295625 19295625 insertion of <=200bp - A intron_variant BRCA-EU 18 19296789 19296789 single base substitution G T intron_variant BRCA-EU 18 19297590 19297590 deletion of <=200bp A - intron_variant BRCA-EU 18 19299009 19299009 single base substitution A C intron_variant BRCA-EU 18 19302771 19302771 single base substitution A T intron_variant BRCA-EU 18 19303322 19303322 single base substitution G C intron_variant BRCA-EU 18 19303393 19303393 single base substitution T C intron_variant BRCA-EU 18 19303782 19303782 insertion of <=200bp - T intron_variant BRCA-EU 18 19304096 19304096 single base substitution G A intron_variant BRCA-EU 18 19304189 19304189 deletion of <=200bp A - intron_variant BRCA-EU 18 19305520 19305520 single base substitution C T intron_variant BRCA-EU 18 19305648 19305648 insertion of <=200bp - T intron_variant BRCA-EU 18 19305787 19305787 single base substitution C G intron_variant BRCA-EU 18 19305915 19305915 single base substitution C A intron_variant BRCA-EU 18 19306790 19306790 single base substitution T G intron_variant BRCA-EU 18 19307081 19307081 insertion of <=200bp - T intron_variant BRCA-EU 18 19307332 19307332 single base substitution G C intron_variant BRCA-EU 18 19307418 19307418 single base substitution C G intron_variant BRCA-EU 18 19307797 19307797 single base substitution G T intron_variant BRCA-EU 18 19308455 19308455 insertion of <=200bp - A intron_variant BRCA-EU 18 19309224 19309224 single base substitution G A intron_variant BRCA-EU 18 19309704 19309704 single base substitution A G intron_variant BRCA-EU 18 19310460 19310460 single base substitution C T intron_variant BRCA-EU 18 19312243 19312243 single base substitution C G intron_variant BRCA-EU 18 19312905 19312905 single base substitution C T intron_variant BRCA-EU 18 19313199 19313199 single base substitution A G intron_variant BRCA-EU 18 19314019 19314019 single base substitution C G intron_variant BRCA-EU 18 19315514 19315514 single base substitution A G intron_variant BRCA-EU 18 19315850 19315850 single base substitution G A intron_variant BRCA-EU 18 19316204 19316204 single base substitution G A intron_variant BRCA-EU 18 19317137 19317137 single base substitution C T intron_variant BRCA-EU 18 19317137 19317137 single base substitution C T upstream_gene_variant BRCA-EU 18 19317588 19317588 single base substitution G C intron_variant BRCA-EU 18 19317588 19317588 single base substitution G C upstream_gene_variant BRCA-EU 18 19318153 19318153 single base substitution C T intron_variant BRCA-EU 18 19318153 19318153 single base substitution C T upstream_gene_variant BRCA-EU 18 19319206 19319206 single base substitution C G intron_variant BRCA-EU 18 19319206 19319206 single base substitution C G upstream_gene_variant BRCA-EU 18 19319571 19319571 single base substitution G A intron_variant BRCA-EU 18 19319571 19319571 single base substitution G A upstream_gene_variant BRCA-EU 18 19320766 19320766 single base substitution G T intron_variant BRCA-EU 18 19320766 19320766 single base substitution G T upstream_gene_variant BRCA-EU 18 19320837 19320837 single base substitution C G intron_variant BRCA-EU 18 19320837 19320837 single base substitution C G upstream_gene_variant BRCA-EU 18 19321264 19321264 single base substitution C T intron_variant BRCA-EU 18 19321264 19321264 single base substitution C T upstream_gene_variant BRCA-EU 18 19322324 19322324 single base substitution T A intron_variant BRCA-EU 18 19322738 19322738 single base substitution C G intron_variant BRCA-EU 18 19322885 19322885 single base substitution T C intron_variant BRCA-EU 18 19325020 19325020 single base substitution G A intron_variant BRCA-EU 18 19326009 19326009 insertion of <=200bp - A intron_variant BRCA-EU 18 19326886 19326886 insertion of <=200bp - A intron_variant BRCA-EU 18 19327630 19327630 single base substitution A G intron_variant BRCA-EU 18 19327698 19327698 single base substitution C A intron_variant BRCA-EU 18 19327926 19327926 single base substitution C G intron_variant BRCA-EU 18 19331174 19331174 deletion of <=200bp A - intron_variant BRCA-EU 18 19332306 19332306 single base substitution A C intron_variant BRCA-EU 18 19332765 19332765 single base substitution C G intron_variant BRCA-EU 18 19333646 19333646 insertion of <=200bp - T intron_variant BRCA-EU 18 19334067 19334067 single base substitution C G intron_variant BRCA-EU 18 19335025 19335025 single base substitution G T intron_variant BRCA-EU 18 19335562 19335562 single base substitution C T intron_variant BRCA-EU 18 19335738 19335738 single base substitution T C intron_variant BRCA-EU 18 19337460 19337460 single base substitution T G intron_variant BRCA-EU 18 19338280 19338280 single base substitution G A intron_variant BRCA-EU 18 19338740 19338740 single base substitution C T intron_variant BRCA-EU 18 19339988 19339988 single base substitution G C intron_variant BRCA-EU 18 19340780 19340780 single base substitution C A intron_variant BRCA-EU 18 19340836 19340836 single base substitution G A intron_variant BRCA-EU 18 19341899 19341899 single base substitution C G intron_variant BRCA-EU 18 19344056 19344056 single base substitution A G intron_variant BRCA-EU 18 19344941 19344941 single base substitution C A intron_variant BRCA-EU 18 19345252 19345252 single base substitution A G intron_variant BRCA-EU 18 19347123 19347123 single base substitution C T intron_variant BRCA-EU 18 19347521 19347521 insertion of <=200bp - T intron_variant BRCA-EU 18 19350174 19350174 single base substitution A C intron_variant BRCA-EU 18 19350785 19350785 deletion of <=200bp A - intron_variant BRCA-EU 18 19352351 19352351 single base substitution C T intron_variant BRCA-EU 18 19352353 19352353 single base substitution G T intron_variant BRCA-EU 18 19352650 19352650 single base substitution T A intron_variant BRCA-EU 18 19354148 19354164 deletion of <=200bp AAAATGATTGACTTAGA - intron_variant BRCA-EU 18 19354368 19354368 single base substitution G A intron_variant BRCA-EU 18 19356379 19356379 single base substitution C T intron_variant BRCA-EU 18 19356444 19356444 single base substitution A G intron_variant BRCA-EU 18 19358163 19358163 single base substitution A G intron_variant BRCA-EU 18 19358755 19358755 deletion of <=200bp T - intron_variant BRCA-EU 18 19358763 19358763 single base substitution T A intron_variant BRCA-EU 18 19360079 19360079 single base substitution G C intron_variant BRCA-EU 18 19360522 19360522 single base substitution G A intron_variant BRCA-EU 18 19361959 19361959 single base substitution A G intron_variant BRCA-EU 18 19362061 19362061 single base substitution G A intron_variant BRCA-EU 18 19363646 19363649 deletion of <=200bp CTTC - intron_variant BRCA-EU 18 19363842 19363842 single base substitution G T intron_variant BRCA-EU 18 19364442 19364442 single base substitution C G intron_variant BRCA-EU 18 19365337 19365337 single base substitution C T intron_variant BRCA-EU 18 19365346 19365346 deletion of <=200bp A - intron_variant BRCA-EU 18 19366780 19366780 single base substitution T C intron_variant BRCA-EU 18 19367091 19367091 single base substitution G A intron_variant BRCA-EU 18 19370198 19370198 single base substitution G C intron_variant BRCA-EU 18 19370489 19370489 deletion of <=200bp A - intron_variant BRCA-EU 18 19370743 19370743 single base substitution T C intron_variant BRCA-EU 18 19372969 19372969 single base substitution C T intron_variant BRCA-EU 18 19373783 19373783 single base substitution G C intron_variant BRCA-EU 18 19373783 19373783 single base substitution G C upstream_gene_variant BRCA-EU 18 19377449 19377449 deletion of <=200bp A - intron_variant BRCA-EU 18 19377449 19377449 deletion of <=200bp A - upstream_gene_variant BRCA-EU 18 19378551 19378551 single base substitution C G intron_variant BRCA-EU 18 19378561 19378561 single base substitution T G intron_variant BRCA-EU 18 19381860 19381860 single base substitution C A intron_variant BRCA-EU 18 19381860 19381860 single base substitution C A upstream_gene_variant BRCA-EU 18 19381927 19381927 single base substitution C G intron_variant BRCA-EU 18 19381927 19381927 single base substitution C G upstream_gene_variant BRCA-EU 18 19382934 19382934 single base substitution G C intron_variant BRCA-EU 18 19382934 19382934 single base substitution G C upstream_gene_variant BRCA-EU 18 19383093 19383093 single base substitution A G intron_variant BRCA-EU 18 19383093 19383093 single base substitution A G upstream_gene_variant BRCA-EU 18 19383745 19383745 single base substitution C T exon_variant BRCA-EU 18 19383745 19383745 single base substitution C T intron_variant BRCA-EU 18 19385264 19385264 single base substitution G A intron_variant BRCA-EU 18 19385330 19385330 single base substitution C G intron_variant BRCA-EU 18 19386295 19386295 single base substitution A G intron_variant BRCA-EU 18 19388471 19388471 deletion of <=200bp T - intron_variant BRCA-EU 18 19388558 19388558 single base substitution A G intron_variant BRCA-EU 18 19388761 19388761 single base substitution G C intron_variant BRCA-EU 18 19389487 19389487 single base substitution C G intron_variant BRCA-EU 18 19389496 19389496 single base substitution G C intron_variant BRCA-EU 18 19391558 19391558 single base substitution C T intron_variant BRCA-EU 18 19392358 19392358 single base substitution A C exon_variant BRCA-EU 18 19392358 19392358 single base substitution A C intron_variant BRCA-EU 18 19392482 19392482 single base substitution T C intron_variant BRCA-EU 18 19395484 19395484 single base substitution C G intron_variant BRCA-EU 18 19395730 19395730 single base substitution G C exon_variant BRCA-EU 18 19395730 19395730 single base substitution G C missense_variant V545L 1633G>C BRCA-EU 18 19395946 19395946 deletion of <=200bp T - intron_variant BRCA-EU 18 19398048 19398048 single base substitution T A intron_variant BRCA-EU 18 19398176 19398176 single base substitution C G intron_variant BRCA-EU 18 19400517 19400517 single base substitution G C downstream_gene_variant BRCA-EU 18 19400517 19400517 single base substitution G C intron_variant BRCA-EU 18 19401584 19401584 single base substitution G C downstream_gene_variant BRCA-EU 18 19401584 19401584 single base substitution G C intron_variant BRCA-EU 18 19402273 19402273 single base substitution G A downstream_gene_variant BRCA-EU 18 19402273 19402273 single base substitution G A intron_variant BRCA-EU 18 19403153 19403153 single base substitution C A downstream_gene_variant BRCA-EU 18 19403153 19403153 single base substitution C A intron_variant BRCA-EU 18 19406764 19406764 single base substitution A T intron_variant BRCA-EU 18 19407061 19407061 insertion of <=200bp - A intron_variant BRCA-EU 18 19407464 19407464 single base substitution G T intron_variant BRCA-EU 18 19407828 19407828 single base substitution C G intron_variant BRCA-EU 18 19408869 19408869 single base substitution T G intron_variant BRCA-EU 18 19409627 19409627 single base substitution G A intron_variant BRCA-EU 18 19411077 19411077 insertion of <=200bp - C intron_variant BRCA-EU 18 19411111 19411111 deletion of <=200bp C - intron_variant BRCA-EU 18 19411769 19411769 deletion of <=200bp A - intron_variant BRCA-EU 18 19412721 19412721 single base substitution T C intron_variant BRCA-EU 18 19413736 19413736 single base substitution T C intron_variant BRCA-EU 18 19414268 19414268 deletion of <=200bp T - intron_variant BRCA-EU 18 19414277 19414277 single base substitution G T intron_variant BRCA-EU 18 19414604 19414604 single base substitution G A intron_variant BRCA-EU 18 19415238 19415238 single base substitution G C intron_variant BRCA-EU 18 19416129 19416129 single base substitution C T intron_variant BRCA-EU 18 19416948 19416948 single base substitution A G intron_variant BRCA-EU 18 19417979 19417979 single base substitution G C intron_variant BRCA-EU 18 19418496 19418496 single base substitution T A intron_variant BRCA-EU 18 19420225 19420225 single base substitution A G intron_variant BRCA-EU 18 19422283 19422283 insertion of <=200bp - TC intron_variant BRCA-EU 18 19422823 19422823 single base substitution G T intron_variant BRCA-EU 18 19422849 19422849 single base substitution G T intron_variant BRCA-EU 18 19424191 19424191 single base substitution G T exon_variant BRCA-EU 18 19424191 19424191 single base substitution G T missense_variant A730S 2188G>T BRCA-EU 18 19426110 19426110 single base substitution C G intron_variant BRCA-EU 18 19426127 19426127 single base substitution C T intron_variant BRCA-EU 18 19427474 19427474 single base substitution T A intron_variant BRCA-EU 18 19429449 19429449 single base substitution C G intron_variant BRCA-EU 18 19431070 19431070 single base substitution T C intron_variant BRCA-EU 18 19431824 19431824 deletion of <=200bp T - intron_variant BRCA-EU 18 19432137 19432137 single base substitution G C intron_variant BRCA-EU 18 19432967 19432967 single base substitution G C intron_variant BRCA-EU 18 19434379 19434379 single base substitution G A intron_variant BRCA-EU 18 19435345 19435345 single base substitution G C intron_variant BRCA-EU 18 19436939 19436939 single base substitution G A intron_variant BRCA-EU 18 19437214 19437214 single base substitution T G intron_variant BRCA-EU 18 19440129 19440129 single base substitution T C intron_variant BRCA-EU 18 19440439 19440439 single base substitution A T intron_variant BRCA-EU 18 19442206 19442206 single base substitution C T intron_variant BRCA-EU 18 19442383 19442383 single base substitution C G intron_variant BRCA-EU 18 19445019 19445019 single base substitution G C 3_prime_UTR_variant BRCA-EU 18 19445019 19445019 single base substitution G C downstream_gene_variant BRCA-EU 18 19446074 19446074 single base substitution C A 3_prime_UTR_variant BRCA-EU 18 19446074 19446074 single base substitution C A downstream_gene_variant BRCA-EU 18 19446271 19446271 single base substitution G A 3_prime_UTR_variant BRCA-EU 18 19446271 19446271 single base substitution G A downstream_gene_variant BRCA-EU 18 19448203 19448203 single base substitution A G 3_prime_UTR_variant BRCA-EU 18 19448203 19448203 single base substitution A G downstream_gene_variant BRCA-EU 18 19449954 19449954 single base substitution G T 3_prime_UTR_variant BRCA-EU 18 19450389 19450389 single base substitution T C 3_prime_UTR_variant BRCA-EU 18 19450957 19450957 single base substitution C T downstream_gene_variant BRCA-EU 18 19452531 19452531 single base substitution C T downstream_gene_variant BRCA-EU 18 19453052 19453052 single base substitution A G downstream_gene_variant BRCA-EU 18 19453482 19453482 deletion of <=200bp C - downstream_gene_variant BRCA-EU 18 19453482 19453482 single base substitution C A downstream_gene_variant BRCA-EU 18 19454269 19454269 deletion of <=200bp C - downstream_gene_variant BRCA-EU 18 19454966 19454966 single base substitution C A downstream_gene_variant BRCA-FR 18 19286381 19286381 single base substitution G C intron_variant BRCA-FR 18 19299524 19299524 single base substitution C T intron_variant BRCA-FR 18 19302771 19302771 single base substitution A T intron_variant BRCA-FR 18 19314019 19314019 single base substitution C G intron_variant BRCA-FR 18 19326505 19326505 single base substitution G T intron_variant BRCA-FR 18 19332765 19332765 single base substitution C G intron_variant BRCA-FR 18 19334067 19334067 single base substitution C G intron_variant BRCA-FR 18 19336130 19336130 single base substitution C T intron_variant BRCA-FR 18 19338280 19338280 single base substitution G A intron_variant BRCA-FR 18 19340836 19340836 single base substitution G A intron_variant BRCA-FR 18 19341899 19341899 single base substitution C G intron_variant BRCA-FR 18 19350174 19350174 single base substitution A C intron_variant BRCA-FR 18 19360863 19360863 single base substitution G A intron_variant BRCA-FR 18 19381676 19381676 single base substitution C G intron_variant BRCA-FR 18 19381676 19381676 single base substitution C G upstream_gene_variant BRCA-FR 18 19381860 19381860 single base substitution C A intron_variant BRCA-FR 18 19381860 19381860 single base substitution C A upstream_gene_variant BRCA-FR 18 19381927 19381927 single base substitution C G intron_variant BRCA-FR 18 19381927 19381927 single base substitution C G upstream_gene_variant BRCA-FR 18 19382934 19382934 single base substitution G C intron_variant BRCA-FR 18 19382934 19382934 single base substitution G C upstream_gene_variant BRCA-FR 18 19408869 19408869 single base substitution T G intron_variant BRCA-FR 18 19415238 19415238 single base substitution G C intron_variant BRCA-FR 18 19416129 19416129 single base substitution C T intron_variant BRCA-FR 18 19418432 19418432 single base substitution G C exon_variant BRCA-FR 18 19418432 19418432 single base substitution G C missense_variant E646Q 1936G>C BRCA-FR 18 19436939 19436939 single base substitution G A intron_variant BRCA-KR 18 19282404 19282404 single base substitution C G upstream_gene_variant BRCA-UK 18 19296872 19296872 single base substitution C T intron_variant BRCA-UK 18 19303393 19303393 single base substitution T C intron_variant BRCA-UK 18 19305260 19305275 deletion of <=200bp AAAATGTGGAAGGCAG - intron_variant BRCA-UK 18 19305787 19305787 single base substitution C G intron_variant BRCA-UK 18 19310762 19310762 single base substitution C A intron_variant BRCA-UK 18 19322753 19322753 single base substitution C T intron_variant BRCA-UK 18 19327698 19327698 single base substitution C A intron_variant BRCA-UK 18 19339817 19339817 single base substitution G A intron_variant BRCA-UK 18 19342676 19342676 single base substitution C G intron_variant BRCA-UK 18 19352650 19352650 single base substitution T A intron_variant BRCA-UK 18 19360522 19360522 single base substitution G A intron_variant BRCA-US 18 19348649 19348649 single base substitution G C exon_variant BRCA-US 18 19348649 19348649 single base substitution G C missense_variant R156T 467G>C BRCA-US 18 19353670 19353670 single base substitution G A exon_variant BRCA-US 18 19353670 19353670 single base substitution G A missense_variant R206K 617G>A BRCA-US 18 19371349 19371349 single base substitution C T exon_variant BRCA-US 18 19371349 19371349 single base substitution C T missense_variant P308L 923C>T BRCA-US 18 19371401 19371401 single base substitution T G exon_variant BRCA-US 18 19371401 19371401 single base substitution T G synonymous_variant G325G 975T>G BRCA-US 18 19405701 19405701 single base substitution G A intron_variant BRCA-US 18 19424122 19424122 single base substitution C G exon_variant BRCA-US 18 19424122 19424122 single base substitution C G missense_variant L707V 2119C>G BRCA-US 18 19426998 19426998 single base substitution C T exon_variant BRCA-US 18 19426998 19426998 single base substitution C T stop_gained R769* 2305C>T BRCA-US 18 19438538 19438538 single base substitution C G exon_variant BRCA-US 18 19438538 19438538 single base substitution C G missense_variant D937E 2811C>G BRCA-US 18 19438554 19438554 single base substitution G A exon_variant BRCA-US 18 19438554 19438554 single base substitution G A missense_variant V943I 2827G>A BTCA-JP 18 19282339 19282339 single base substitution C A upstream_gene_variant BTCA-JP 18 19379990 19379990 single base substitution A T intron_variant BTCA-JP 18 19379990 19379990 single base substitution A T upstream_gene_variant BTCA-JP 18 19383849 19383849 insertion of <=200bp - T exon_variant BTCA-JP 18 19383849 19383849 insertion of <=200bp - T intron_variant BTCA-JP 18 19395627 19395627 single base substitution C T exon_variant BTCA-JP 18 19395627 19395627 single base substitution C T synonymous_variant G510G 1530C>T BTCA-JP 18 19408892 19408892 single base substitution T G intron_variant BTCA-JP 18 19418493 19418493 deletion of <=200bp T - intron_variant BTCA-JP 18 19429112 19429112 single base substitution A T intron_variant BTCA-JP 18 19429218 19429218 single base substitution T C exon_variant BTCA-JP 18 19429218 19429218 single base substitution T C missense_variant C819R 2455T>C BTCA-JP 18 19437032 19437032 single base substitution A G intron_variant CESC-US 18 19283676 19283676 single base substitution G A upstream_gene_variant CESC-US 18 19291975 19291975 single base substitution C A intron_variant CESC-US 18 19359615 19359615 single base substitution G A exon_variant CESC-US 18 19359615 19359615 single base substitution G A missense_variant D293N 877G>A CESC-US 18 19409106 19409106 single base substitution G A intron_variant CESC-US 18 19418375 19418375 single base substitution G A exon_variant CESC-US 18 19418375 19418375 single base substitution G A missense_variant E627K 1879G>A CLLE-ES 18 19308525 19308525 single base substitution A G intron_variant CLLE-ES 18 19325969 19325969 single base substitution T C intron_variant CLLE-ES 18 19361788 19361788 single base substitution A G intron_variant CLLE-ES 18 19367939 19367939 single base substitution A G intron_variant CLLE-ES 18 19395034 19395034 single base substitution G T intron_variant CLLE-ES 18 19441716 19441716 single base substitution A G intron_variant COAD-US 18 19284483 19284483 single base substitution G C upstream_gene_variant COAD-US 18 19321667 19321667 single base substitution C A intron_variant COAD-US 18 19321667 19321667 single base substitution C A missense_variant S41R 123C>A COAD-US 18 19353627 19353627 single base substitution G A exon_variant COAD-US 18 19353627 19353627 single base substitution G A missense_variant A192T 574G>A COAD-US 18 19359513 19359513 single base substitution G A exon_variant COAD-US 18 19359513 19359513 single base substitution G A missense_variant E259K 775G>A COAD-US 18 19378064 19378064 single base substitution G A exon_variant COAD-US 18 19378064 19378064 single base substitution G A missense_variant R371Q 1112G>A COAD-US 18 19383882 19383882 single base substitution T C exon_variant COAD-US 18 19383882 19383882 single base substitution T C synonymous_variant C462C 1386T>C COAD-US 18 19424072 19424072 single base substitution C T exon_variant COAD-US 18 19424072 19424072 single base substitution C T missense_variant A690V 2069C>T COAD-US 18 19427018 19427018 single base substitution G A exon_variant COAD-US 18 19427018 19427018 single base substitution G A synonymous_variant S775S 2325G>A COCA-CN 18 19321810 19321810 single base substitution G A intron_variant COCA-CN 18 19345696 19345696 single base substitution T G intron_variant COCA-CN 18 19345871 19345871 single base substitution G A exon_variant COCA-CN 18 19345871 19345871 single base substitution G A missense_variant R123H 368G>A COCA-CN 18 19358251 19358251 single base substitution T G intron_variant COCA-CN 18 19358284 19358284 single base substitution C A intron_variant COCA-CN 18 19359513 19359513 single base substitution G A exon_variant COCA-CN 18 19359513 19359513 single base substitution G A missense_variant E259K 775G>A COCA-CN 18 19379958 19379958 single base substitution T C intron_variant COCA-CN 18 19379958 19379958 single base substitution T C upstream_gene_variant COCA-CN 18 19399504 19399504 single base substitution G T exon_variant COCA-CN 18 19399504 19399504 single base substitution G T missense_variant D576Y 1726G>T COCA-CN 18 19399546 19399546 single base substitution A C downstream_gene_variant COCA-CN 18 19399546 19399546 single base substitution A C exon_variant COCA-CN 18 19399546 19399546 single base substitution A C missense_variant T590P 1768A>C EOPC-DE 18 19302077 19302077 single base substitution G A intron_variant EOPC-DE 18 19341731 19341731 single base substitution C T intron_variant EOPC-DE 18 19363931 19363931 single base substitution T A intron_variant EOPC-DE 18 19391248 19391248 single base substitution G T intron_variant ESAD-UK 18 19283919 19283922 deletion of <=200bp GTTT - upstream_gene_variant ESAD-UK 18 19284449 19284449 single base substitution G T upstream_gene_variant ESAD-UK 18 19285830 19285830 single base substitution G A intron_variant ESAD-UK 18 19287486 19287486 single base substitution G A intron_variant ESAD-UK 18 19288107 19288107 single base substitution C A intron_variant ESAD-UK 18 19288262 19288262 single base substitution G C intron_variant ESAD-UK 18 19288622 19288622 single base substitution C A intron_variant ESAD-UK 18 19291500 19291500 single base substitution T C intron_variant ESAD-UK 18 19292022 19292022 deletion of <=200bp A - intron_variant ESAD-UK 18 19292188 19292188 insertion of <=200bp - T intron_variant ESAD-UK 18 19293053 19293053 single base substitution G A intron_variant ESAD-UK 18 19295083 19295083 single base substitution G A intron_variant ESAD-UK 18 19295136 19295136 single base substitution C A intron_variant ESAD-UK 18 19295468 19295469 deletion of <=200bp CC - intron_variant ESAD-UK 18 19295472 19295484 deletion of <=200bp GAAGAAATCTCTG - intron_variant ESAD-UK 18 19297983 19297983 single base substitution G T intron_variant ESAD-UK 18 19298360 19298360 deletion of <=200bp T - intron_variant ESAD-UK 18 19300241 19300241 single base substitution G T intron_variant ESAD-UK 18 19301761 19301761 single base substitution A C intron_variant ESAD-UK 18 19301869 19301869 deletion of <=200bp T - intron_variant ESAD-UK 18 19302203 19302203 single base substitution G A intron_variant ESAD-UK 18 19302351 19302351 single base substitution G A intron_variant ESAD-UK 18 19302357 19302357 single base substitution G C intron_variant ESAD-UK 18 19303161 19303161 single base substitution T C intron_variant ESAD-UK 18 19304973 19304973 single base substitution G A intron_variant ESAD-UK 18 19306382 19306382 single base substitution T A intron_variant ESAD-UK 18 19308461 19308461 single base substitution A T intron_variant ESAD-UK 18 19311002 19311002 single base substitution A C intron_variant ESAD-UK 18 19311325 19311325 single base substitution G C intron_variant ESAD-UK 18 19312193 19312193 single base substitution G T intron_variant ESAD-UK 18 19316385 19316385 single base substitution G C intron_variant ESAD-UK 18 19316385 19316385 single base substitution G C upstream_gene_variant ESAD-UK 18 19316975 19316975 single base substitution G A intron_variant ESAD-UK 18 19316975 19316975 single base substitution G A upstream_gene_variant ESAD-UK 18 19318035 19318035 single base substitution A T intron_variant ESAD-UK 18 19318035 19318035 single base substitution A T upstream_gene_variant ESAD-UK 18 19319450 19319450 single base substitution A G intron_variant ESAD-UK 18 19319450 19319450 single base substitution A G upstream_gene_variant ESAD-UK 18 19322453 19322453 insertion of <=200bp - T intron_variant ESAD-UK 18 19322907 19322907 single base substitution A T intron_variant ESAD-UK 18 19323829 19323829 single base substitution C T intron_variant ESAD-UK 18 19323877 19323877 single base substitution C G intron_variant ESAD-UK 18 19324143 19324143 single base substitution C A intron_variant ESAD-UK 18 19324162 19324162 single base substitution C G intron_variant ESAD-UK 18 19324571 19324571 single base substitution G C intron_variant ESAD-UK 18 19324773 19324773 single base substitution G T intron_variant ESAD-UK 18 19329300 19329300 single base substitution C T intron_variant ESAD-UK 18 19329518 19329518 single base substitution C A intron_variant ESAD-UK 18 19331739 19331739 single base substitution T C intron_variant ESAD-UK 18 19333443 19333443 single base substitution C A intron_variant ESAD-UK 18 19333532 19333532 single base substitution A C intron_variant ESAD-UK 18 19333644 19333644 single base substitution C T intron_variant ESAD-UK 18 19334567 19334567 single base substitution C T intron_variant ESAD-UK 18 19334662 19334662 single base substitution A G intron_variant ESAD-UK 18 19336621 19336621 single base substitution C T intron_variant ESAD-UK 18 19339518 19339518 single base substitution A T intron_variant ESAD-UK 18 19341059 19341059 single base substitution G A intron_variant ESAD-UK 18 19341431 19341431 single base substitution A G intron_variant ESAD-UK 18 19341715 19341715 single base substitution C T intron_variant ESAD-UK 18 19344792 19344792 single base substitution A T intron_variant ESAD-UK 18 19345368 19345368 single base substitution A G intron_variant ESAD-UK 18 19346142 19346142 single base substitution G C intron_variant ESAD-UK 18 19348917 19348917 single base substitution A C intron_variant ESAD-UK 18 19354826 19354826 single base substitution T C intron_variant ESAD-UK 18 19356007 19356007 single base substitution C A intron_variant ESAD-UK 18 19358763 19358763 single base substitution T A intron_variant ESAD-UK 18 19359708 19359708 single base substitution G A intron_variant ESAD-UK 18 19360197 19360197 single base substitution A G intron_variant ESAD-UK 18 19361789 19361789 single base substitution T C intron_variant ESAD-UK 18 19364156 19364156 single base substitution C T intron_variant ESAD-UK 18 19366780 19366780 single base substitution T C intron_variant ESAD-UK 18 19367914 19367914 single base substitution C T intron_variant ESAD-UK 18 19369517 19369517 deletion of <=200bp T - intron_variant ESAD-UK 18 19376250 19376250 single base substitution C G intron_variant ESAD-UK 18 19376250 19376250 single base substitution C G upstream_gene_variant ESAD-UK 18 19376622 19376622 single base substitution T G intron_variant ESAD-UK 18 19376622 19376622 single base substitution T G upstream_gene_variant ESAD-UK 18 19383856 19383856 single base substitution T A exon_variant ESAD-UK 18 19383856 19383856 single base substitution T A intron_variant ESAD-UK 18 19384020 19384020 single base substitution G C intron_variant ESAD-UK 18 19384092 19384092 single base substitution G C intron_variant ESAD-UK 18 19384284 19384284 single base substitution G A intron_variant ESAD-UK 18 19384716 19384716 single base substitution G A intron_variant ESAD-UK 18 19386531 19386531 single base substitution G T intron_variant ESAD-UK 18 19390879 19390879 single base substitution G T intron_variant ESAD-UK 18 19391877 19391877 single base substitution C T intron_variant ESAD-UK 18 19393557 19393557 single base substitution T C intron_variant ESAD-UK 18 19395878 19395878 single base substitution T A intron_variant ESAD-UK 18 19396675 19396675 single base substitution G T intron_variant ESAD-UK 18 19398223 19398223 single base substitution T C intron_variant ESAD-UK 18 19400585 19400585 single base substitution C A downstream_gene_variant ESAD-UK 18 19400585 19400585 single base substitution C A intron_variant ESAD-UK 18 19401738 19401738 deletion of <=200bp T - downstream_gene_variant ESAD-UK 18 19401738 19401738 deletion of <=200bp T - intron_variant ESAD-UK 18 19405347 19405347 single base substitution G T intron_variant ESAD-UK 18 19407039 19407039 single base substitution C T intron_variant ESAD-UK 18 19410267 19410267 single base substitution T C intron_variant ESAD-UK 18 19410472 19410472 single base substitution T G intron_variant ESAD-UK 18 19412974 19412974 single base substitution G A intron_variant ESAD-UK 18 19414984 19414984 single base substitution A C intron_variant ESAD-UK 18 19415132 19415132 single base substitution G A intron_variant ESAD-UK 18 19415216 19415216 single base substitution T G intron_variant ESAD-UK 18 19415589 19415589 single base substitution G A intron_variant ESAD-UK 18 19415743 19415743 single base substitution A T intron_variant ESAD-UK 18 19416669 19416669 single base substitution C T intron_variant ESAD-UK 18 19417655 19417655 single base substitution C T intron_variant ESAD-UK 18 19417967 19417967 single base substitution C T intron_variant ESAD-UK 18 19419931 19419931 single base substitution G C intron_variant ESAD-UK 18 19422259 19422259 single base substitution G A intron_variant ESAD-UK 18 19429756 19429756 single base substitution T G intron_variant ESAD-UK 18 19431339 19431339 single base substitution G T intron_variant ESAD-UK 18 19432282 19432282 single base substitution G A intron_variant ESAD-UK 18 19432553 19432553 single base substitution A G intron_variant ESAD-UK 18 19435170 19435170 single base substitution G A intron_variant ESAD-UK 18 19436654 19436654 single base substitution G A intron_variant ESAD-UK 18 19437240 19437240 deletion of <=200bp T - intron_variant ESAD-UK 18 19443326 19443326 single base substitution C T intron_variant ESAD-UK 18 19443923 19443923 single base substitution C T intron_variant ESAD-UK 18 19449880 19449880 single base substitution G C 3_prime_UTR_variant ESAD-UK 18 19449880 19449880 single base substitution G C downstream_gene_variant ESAD-UK 18 19450356 19450356 single base substitution C T 3_prime_UTR_variant ESAD-UK 18 19450676 19450676 single base substitution A G 3_prime_UTR_variant ESAD-UK 18 19452301 19452301 single base substitution C G downstream_gene_variant ESAD-UK 18 19453773 19453776 deletion of <=200bp TGAC - downstream_gene_variant ESCA-CN 18 19283602 19283602 single base substitution C G upstream_gene_variant ESCA-CN 18 19437198 19437198 single base substitution G A exon_variant ESCA-CN 18 19437198 19437198 single base substitution G A missense_variant D925N 2773G>A GBM-US 18 19283692 19283692 single base substitution G A upstream_gene_variant GBM-US 18 19321653 19321653 single base substitution G C intron_variant GBM-US 18 19321653 19321653 single base substitution G C missense_variant G37R 109G>C GBM-US 18 19345780 19345780 single base substitution A G exon_variant GBM-US 18 19345780 19345780 single base substitution A G missense_variant I93V 277A>G GBM-US 18 19358097 19358097 single base substitution G A exon_variant GBM-US 18 19358097 19358097 single base substitution G A missense_variant G224S 670G>A GBM-US 18 19395686 19395686 single base substitution G A exon_variant GBM-US 18 19395686 19395686 single base substitution G A missense_variant R530Q 1589G>A KIRP-US 18 19399507 19399507 single base substitution G A exon_variant KIRP-US 18 19399507 19399507 single base substitution G A missense_variant D577N 1729G>A LAML-KR 18 19280175 19280175 single base substitution C T upstream_gene_variant LAML-KR 18 19280440 19280440 single base substitution C A upstream_gene_variant LAML-KR 18 19422077 19422077 single base substitution A G intron_variant LICA-CN 18 19353678 19353678 single base substitution T C exon_variant LICA-CN 18 19353678 19353678 single base substitution T C missense_variant F209L 625T>C LICA-CN 18 19418454 19418454 single base substitution A T exon_variant LICA-CN 18 19418454 19418454 single base substitution A T missense_variant H653L 1958A>T LICA-CN 18 19429266 19429266 single base substitution G A exon_variant LICA-CN 18 19429266 19429266 single base substitution G A missense_variant G835R 2503G>A LICA-FR 18 19284605 19284605 single base substitution G A upstream_gene_variant LICA-FR 18 19294325 19294325 single base substitution G A intron_variant LICA-FR 18 19294611 19294611 single base substitution G A intron_variant LICA-FR 18 19306893 19306893 single base substitution G C intron_variant LICA-FR 18 19310539 19310539 single base substitution A T intron_variant LICA-FR 18 19312313 19312313 insertion of <=200bp - ACACAC intron_variant LICA-FR 18 19318747 19318747 single base substitution C A intron_variant LICA-FR 18 19318747 19318747 single base substitution C A upstream_gene_variant LICA-FR 18 19321653 19321653 single base substitution G A intron_variant LICA-FR 18 19321653 19321653 single base substitution G A missense_variant G37S 109G>A LICA-FR 18 19358339 19358339 single base substitution C T intron_variant LICA-FR 18 19363938 19363938 single base substitution A C intron_variant LICA-FR 18 19383960 19383960 single base substitution G A exon_variant LICA-FR 18 19383960 19383960 single base substitution G A synonymous_variant V488V 1464G>A LICA-FR 18 19385313 19385313 single base substitution A G intron_variant LICA-FR 18 19407530 19407530 single base substitution A G intron_variant LICA-FR 18 19424154 19424154 single base substitution G A exon_variant LICA-FR 18 19424154 19424154 single base substitution G A synonymous_variant Q717Q 2151G>A LICA-FR 18 19440518 19440518 single base substitution A G intron_variant LICA-FR 18 19442916 19442916 single base substitution A G intron_variant LICA-FR 18 19444546 19444546 single base substitution A G exon_variant LICA-FR 18 19444546 19444546 single base substitution A G synonymous_variant G980G 2940A>G LIHC-US 18 19345790 19345790 single base substitution T A exon_variant LIHC-US 18 19345790 19345790 single base substitution T A missense_variant I96N 287T>A LINC-JP 18 19312309 19312309 single base substitution G A intron_variant LINC-JP 18 19320595 19320595 single base substitution C T intron_variant LINC-JP 18 19320595 19320595 single base substitution C T upstream_gene_variant LINC-JP 18 19337448 19337448 single base substitution C T intron_variant LINC-JP 18 19345210 19345210 single base substitution A G intron_variant LINC-JP 18 19350595 19350595 deletion of <=200bp T - intron_variant LINC-JP 18 19354870 19354870 single base substitution A T intron_variant LINC-JP 18 19358145 19358145 single base substitution T C intron_variant LINC-JP 18 19371435 19371435 single base substitution G T exon_variant LINC-JP 18 19371435 19371435 single base substitution G T missense_variant D337Y 1009G>T LINC-JP 18 19378332 19378332 single base substitution C A intron_variant LINC-JP 18 19383856 19383856 single base substitution T A exon_variant LINC-JP 18 19383856 19383856 single base substitution T A intron_variant LINC-JP 18 19393093 19393093 single base substitution G A intron_variant LINC-JP 18 19407067 19407067 single base substitution A G intron_variant LINC-JP 18 19408883 19408883 single base substitution A T intron_variant LINC-JP 18 19424100 19424100 single base substitution G A exon_variant LINC-JP 18 19424100 19424100 single base substitution G A synonymous_variant G699G 2097G>A LINC-JP 18 19424150 19424150 single base substitution G A exon_variant LINC-JP 18 19424150 19424150 single base substitution G A missense_variant R716H 2147G>A LINC-JP 18 19429137 19429137 single base substitution G A intron_variant LINC-JP 18 19430367 19430367 single base substitution C G intron_variant LIRI-JP 18 19305200 19305200 single base substitution C A intron_variant LIRI-JP 18 19305278 19305278 single base substitution A G intron_variant LIRI-JP 18 19305810 19305810 single base substitution A G intron_variant LIRI-JP 18 19310553 19310555 deletion of <=200bp TTG - intron_variant LIRI-JP 18 19320098 19320098 single base substitution G C intron_variant LIRI-JP 18 19320098 19320098 single base substitution G C upstream_gene_variant LIRI-JP 18 19320197 19320197 single base substitution A T intron_variant LIRI-JP 18 19320197 19320197 single base substitution A T upstream_gene_variant LIRI-JP 18 19320877 19320877 single base substitution G T intron_variant LIRI-JP 18 19320877 19320877 single base substitution G T upstream_gene_variant LIRI-JP 18 19336826 19336826 single base substitution A G intron_variant LIRI-JP 18 19343576 19343576 deletion of <=200bp A - intron_variant LIRI-JP 18 19343586 19343586 single base substitution T G intron_variant LIRI-JP 18 19343710 19343710 single base substitution C T intron_variant LIRI-JP 18 19345419 19345419 single base substitution C G intron_variant LIRI-JP 18 19345705 19345705 single base substitution A G intron_variant LIRI-JP 18 19345880 19345880 single base substitution G T exon_variant LIRI-JP 18 19345880 19345880 single base substitution G T missense_variant R126L 377G>T LIRI-JP 18 19348858 19348858 single base substitution A T intron_variant LIRI-JP 18 19351371 19351371 single base substitution A G intron_variant LIRI-JP 18 19353610 19353610 single base substitution C T exon_variant LIRI-JP 18 19353610 19353610 single base substitution C T missense_variant A186V 557C>T LIRI-JP 18 19358357 19358357 single base substitution C T intron_variant LIRI-JP 18 19358792 19358792 single base substitution C T intron_variant LIRI-JP 18 19359423 19359423 single base substitution A G intron_variant LIRI-JP 18 19359438 19359438 single base substitution A T splice_region_variant LIRI-JP 18 19370770 19370770 single base substitution A G intron_variant LIRI-JP 18 19371594 19371594 single base substitution A T intron_variant LIRI-JP 18 19380846 19380846 single base substitution A G intron_variant LIRI-JP 18 19380846 19380846 single base substitution A G upstream_gene_variant LIRI-JP 18 19388616 19388616 single base substitution T C intron_variant LIRI-JP 18 19393966 19393966 single base substitution T G intron_variant LIRI-JP 18 19394250 19394250 single base substitution A T intron_variant LIRI-JP 18 19399480 19399480 single base substitution C T exon_variant LIRI-JP 18 19399480 19399480 single base substitution C T missense_variant H568Y 1702C>T LIRI-JP 18 19410134 19410136 deletion of <=200bp AGA - intron_variant LIRI-JP 18 19410328 19410328 single base substitution A G intron_variant LIRI-JP 18 19410681 19410681 single base substitution C G intron_variant LIRI-JP 18 19410887 19410887 single base substitution A G intron_variant LIRI-JP 18 19411691 19411691 single base substitution T A intron_variant LIRI-JP 18 19411735 19411735 single base substitution A G intron_variant LIRI-JP 18 19412200 19412200 single base substitution A G intron_variant LIRI-JP 18 19415323 19415323 single base substitution C T intron_variant LIRI-JP 18 19419172 19419172 single base substitution A G intron_variant LIRI-JP 18 19419836 19419836 single base substitution G C intron_variant LIRI-JP 18 19430876 19430876 single base substitution T C intron_variant LIRI-JP 18 19432517 19432517 single base substitution A G intron_variant LIRI-JP 18 19434079 19434079 single base substitution T A intron_variant LIRI-JP 18 19441593 19441593 single base substitution G A intron_variant LIRI-JP 18 19442288 19442288 single base substitution C A intron_variant LIRI-JP 18 19444415 19444415 single base substitution A G intron_variant LIRI-JP 18 19445326 19445326 single base substitution A G 3_prime_UTR_variant LIRI-JP 18 19445326 19445326 single base substitution A G downstream_gene_variant LIRI-JP 18 19445739 19445739 single base substitution A G 3_prime_UTR_variant LIRI-JP 18 19445739 19445739 single base substitution A G downstream_gene_variant LIRI-JP 18 19445747 19445747 single base substitution G A 3_prime_UTR_variant LIRI-JP 18 19445747 19445747 single base substitution G A downstream_gene_variant LIRI-JP 18 19447373 19447373 single base substitution G T 3_prime_UTR_variant LIRI-JP 18 19447373 19447373 single base substitution G T downstream_gene_variant LIRI-JP 18 19448327 19448327 single base substitution A G 3_prime_UTR_variant LIRI-JP 18 19448327 19448327 single base substitution A G downstream_gene_variant LIRI-JP 18 19451377 19451377 single base substitution A G downstream_gene_variant LUSC-KR 18 19280175 19280175 single base substitution C T upstream_gene_variant LUSC-KR 18 19284961 19284961 single base substitution C A exon_variant LUSC-KR 18 19289669 19289669 single base substitution C T intron_variant LUSC-KR 18 19294584 19294584 single base substitution G A intron_variant LUSC-KR 18 19295433 19295433 single base substitution A G intron_variant LUSC-KR 18 19295713 19295713 single base substitution G T intron_variant LUSC-KR 18 19304216 19304216 single base substitution A T intron_variant LUSC-KR 18 19306707 19306707 single base substitution G A intron_variant LUSC-KR 18 19309349 19309349 single base substitution A G intron_variant LUSC-KR 18 19309640 19309640 single base substitution A T intron_variant LUSC-KR 18 19314099 19314099 single base substitution G T intron_variant LUSC-KR 18 19316414 19316414 single base substitution C T intron_variant LUSC-KR 18 19316414 19316414 single base substitution C T upstream_gene_variant LUSC-KR 18 19317294 19317294 single base substitution G A intron_variant LUSC-KR 18 19317294 19317294 single base substitution G A upstream_gene_variant LUSC-KR 18 19319536 19319536 single base substitution G T intron_variant LUSC-KR 18 19319536 19319536 single base substitution G T upstream_gene_variant LUSC-KR 18 19319604 19319604 single base substitution G A intron_variant LUSC-KR 18 19319604 19319604 single base substitution G A upstream_gene_variant LUSC-KR 18 19319825 19319825 single base substitution G A intron_variant LUSC-KR 18 19319825 19319825 single base substitution G A upstream_gene_variant LUSC-KR 18 19319827 19319827 single base substitution G A intron_variant LUSC-KR 18 19319827 19319827 single base substitution G A upstream_gene_variant LUSC-KR 18 19320172 19320172 single base substitution C T intron_variant LUSC-KR 18 19320172 19320172 single base substitution C T upstream_gene_variant LUSC-KR 18 19320278 19320278 single base substitution A T intron_variant LUSC-KR 18 19320278 19320278 single base substitution A T upstream_gene_variant LUSC-KR 18 19320583 19320583 single base substitution C G intron_variant LUSC-KR 18 19320583 19320583 single base substitution C G upstream_gene_variant LUSC-KR 18 19321464 19321464 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 18 19321464 19321464 single base substitution G T intron_variant LUSC-KR 18 19322222 19322222 single base substitution G C intron_variant LUSC-KR 18 19323358 19323358 single base substitution A T intron_variant LUSC-KR 18 19324491 19324491 single base substitution G A intron_variant LUSC-KR 18 19328892 19328892 single base substitution G C intron_variant LUSC-KR 18 19328939 19328939 single base substitution G T intron_variant LUSC-KR 18 19332994 19332994 single base substitution C A intron_variant LUSC-KR 18 19335663 19335663 single base substitution A G intron_variant LUSC-KR 18 19343469 19343469 single base substitution G A intron_variant LUSC-KR 18 19357966 19357966 single base substitution G C intron_variant LUSC-KR 18 19359637 19359637 single base substitution G T exon_variant LUSC-KR 18 19359637 19359637 single base substitution G T missense_variant S300I 899G>T LUSC-KR 18 19359639 19359639 single base substitution G T exon_variant LUSC-KR 18 19359639 19359639 single base substitution G T missense_variant G301C 901G>T LUSC-KR 18 19361429 19361429 single base substitution G C intron_variant LUSC-KR 18 19362626 19362626 single base substitution G C intron_variant LUSC-KR 18 19367022 19367022 single base substitution C A intron_variant LUSC-KR 18 19371543 19371543 single base substitution G T intron_variant LUSC-KR 18 19386795 19386795 single base substitution G C intron_variant LUSC-KR 18 19391674 19391674 single base substitution A T intron_variant LUSC-KR 18 19393509 19393509 single base substitution G T intron_variant LUSC-KR 18 19393632 19393632 single base substitution A G intron_variant LUSC-KR 18 19393715 19393715 single base substitution G T intron_variant LUSC-KR 18 19411472 19411472 single base substitution T C intron_variant LUSC-KR 18 19415762 19415762 single base substitution C A intron_variant LUSC-KR 18 19417643 19417643 single base substitution G T intron_variant LUSC-KR 18 19421105 19421105 single base substitution T A intron_variant LUSC-KR 18 19421107 19421107 single base substitution A C intron_variant LUSC-KR 18 19422077 19422077 single base substitution A G intron_variant LUSC-KR 18 19422343 19422343 single base substitution A T intron_variant LUSC-KR 18 19424860 19424860 single base substitution G A intron_variant LUSC-KR 18 19429184 19429184 single base substitution T G exon_variant LUSC-KR 18 19429184 19429184 single base substitution T G synonymous_variant S807S 2421T>G LUSC-KR 18 19429846 19429846 single base substitution A G intron_variant LUSC-KR 18 19435696 19435696 single base substitution C G intron_variant LUSC-KR 18 19437428 19437428 single base substitution A T intron_variant LUSC-KR 18 19437429 19437429 single base substitution C T intron_variant LUSC-KR 18 19438633 19438633 single base substitution G A intron_variant LUSC-KR 18 19439546 19439546 single base substitution A T intron_variant LUSC-KR 18 19439847 19439847 single base substitution C A intron_variant LUSC-KR 18 19440358 19440358 single base substitution G T intron_variant LUSC-KR 18 19440359 19440359 single base substitution G T intron_variant LUSC-KR 18 19440371 19440371 single base substitution G T intron_variant LUSC-KR 18 19443447 19443447 single base substitution G T intron_variant LUSC-KR 18 19444544 19444544 single base substitution G T exon_variant LUSC-KR 18 19444544 19444544 single base substitution G T stop_gained G980* 2938G>T LUSC-KR 18 19444743 19444743 single base substitution A T 3_prime_UTR_variant LUSC-KR 18 19444743 19444743 single base substitution A T exon_variant LUSC-KR 18 19446178 19446178 single base substitution A T 3_prime_UTR_variant LUSC-KR 18 19446178 19446178 single base substitution A T downstream_gene_variant LUSC-KR 18 19449678 19449678 single base substitution C G 3_prime_UTR_variant LUSC-KR 18 19449678 19449678 single base substitution C G downstream_gene_variant LUSC-KR 18 19450386 19450386 single base substitution T C 3_prime_UTR_variant LUSC-KR 18 19450757 19450757 single base substitution A G 3_prime_UTR_variant LUSC-US 18 19345762 19345762 single base substitution A T exon_variant LUSC-US 18 19345762 19345762 single base substitution A T missense_variant T87S 259A>T LUSC-US 18 19379821 19379821 single base substitution G A exon_variant LUSC-US 18 19379821 19379821 single base substitution G A synonymous_variant L419L 1257G>A LUSC-US 18 19379821 19379821 single base substitution G A upstream_gene_variant LUSC-US 18 19424132 19424132 single base substitution A T exon_variant LUSC-US 18 19424132 19424132 single base substitution A T missense_variant H710L 2129A>T MALY-DE 18 19302012 19302013 deletion of <=200bp GT - intron_variant MALY-DE 18 19308076 19308076 single base substitution A C intron_variant MALY-DE 18 19309915 19309915 single base substitution T G intron_variant MALY-DE 18 19311980 19311981 deletion of <=200bp AT - intron_variant MALY-DE 18 19313053 19313053 single base substitution C A intron_variant MALY-DE 18 19313172 19313172 single base substitution G A intron_variant MALY-DE 18 19314317 19314317 single base substitution C G intron_variant MALY-DE 18 19314455 19314455 single base substitution C T intron_variant MALY-DE 18 19315654 19315654 single base substitution G A intron_variant MALY-DE 18 19321231 19321231 single base substitution G C intron_variant MALY-DE 18 19321231 19321231 single base substitution G C upstream_gene_variant MALY-DE 18 19325237 19325237 single base substitution T G intron_variant MALY-DE 18 19325637 19325637 insertion of <=200bp - AC intron_variant MALY-DE 18 19325637 19325638 deletion of <=200bp AC - intron_variant MALY-DE 18 19331396 19331396 single base substitution A T intron_variant MALY-DE 18 19337527 19337527 single base substitution C A intron_variant MALY-DE 18 19340932 19340932 single base substitution A G intron_variant MALY-DE 18 19344342 19344342 single base substitution A G intron_variant MALY-DE 18 19344684 19344684 single base substitution A G intron_variant MALY-DE 18 19358763 19358763 single base substitution T A intron_variant MALY-DE 18 19359823 19359824 deletion of <=200bp GT - intron_variant MALY-DE 18 19373832 19373832 single base substitution A G intron_variant MALY-DE 18 19373832 19373832 single base substitution A G upstream_gene_variant MALY-DE 18 19377259 19377259 single base substitution G T intron_variant MALY-DE 18 19377259 19377259 single base substitution G T upstream_gene_variant MALY-DE 18 19378801 19378801 single base substitution T C intron_variant MALY-DE 18 19378801 19378801 single base substitution T C upstream_gene_variant MALY-DE 18 19380209 19380209 insertion of <=200bp - T intron_variant MALY-DE 18 19380209 19380209 insertion of <=200bp - T upstream_gene_variant MALY-DE 18 19380511 19380511 single base substitution C T intron_variant MALY-DE 18 19380511 19380511 single base substitution C T upstream_gene_variant MALY-DE 18 19380956 19380956 single base substitution T C intron_variant MALY-DE 18 19380956 19380956 single base substitution T C upstream_gene_variant MALY-DE 18 19381302 19381302 single base substitution C T intron_variant MALY-DE 18 19381302 19381302 single base substitution C T upstream_gene_variant MALY-DE 18 19388139 19388139 single base substitution A T intron_variant MALY-DE 18 19389930 19389930 single base substitution T G intron_variant MALY-DE 18 19395447 19395447 single base substitution T G intron_variant MALY-DE 18 19399903 19399903 single base substitution C T downstream_gene_variant MALY-DE 18 19399903 19399903 single base substitution C T intron_variant MALY-DE 18 19408935 19408935 single base substitution C T intron_variant MALY-DE 18 19411292 19411292 single base substitution T C intron_variant MALY-DE 18 19418008 19418008 single base substitution G A intron_variant MALY-DE 18 19422023 19422023 single base substitution A T intron_variant MALY-DE 18 19422142 19422142 single base substitution A C intron_variant MALY-DE 18 19422181 19422181 single base substitution A C intron_variant MALY-DE 18 19422286 19422286 single base substitution T G intron_variant MALY-DE 18 19427497 19427497 single base substitution C T intron_variant MALY-DE 18 19432160 19432160 single base substitution T C intron_variant MALY-DE 18 19432522 19432522 single base substitution T C intron_variant MALY-DE 18 19440444 19440444 single base substitution A C intron_variant MALY-DE 18 19443525 19443525 single base substitution G C intron_variant MALY-DE 18 19444899 19444899 single base substitution A G 3_prime_UTR_variant MALY-DE 18 19444899 19444899 single base substitution A G exon_variant MELA-AU 18 19280383 19280383 single base substitution G A upstream_gene_variant MELA-AU 18 19280889 19280890 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 18 19281754 19281754 single base substitution G A upstream_gene_variant MELA-AU 18 19282112 19282112 single base substitution C T upstream_gene_variant MELA-AU 18 19283811 19283811 single base substitution G A upstream_gene_variant MELA-AU 18 19284293 19284293 single base substitution G A upstream_gene_variant MELA-AU 18 19285429 19285429 single base substitution A G intron_variant MELA-AU 18 19285710 19285711 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 19285781 19285781 single base substitution C T intron_variant MELA-AU 18 19286060 19286060 single base substitution G A intron_variant MELA-AU 18 19286062 19286062 single base substitution G A intron_variant MELA-AU 18 19286178 19286178 single base substitution G A intron_variant MELA-AU 18 19286667 19286667 single base substitution C T intron_variant MELA-AU 18 19286839 19286839 single base substitution C T intron_variant MELA-AU 18 19287269 19287269 single base substitution C T intron_variant MELA-AU 18 19287284 19287284 single base substitution C T intron_variant MELA-AU 18 19289367 19289367 single base substitution C T intron_variant MELA-AU 18 19289465 19289465 single base substitution G A intron_variant MELA-AU 18 19289573 19289573 single base substitution G A intron_variant MELA-AU 18 19291867 19291867 single base substitution C T intron_variant MELA-AU 18 19292303 19292303 single base substitution C T intron_variant MELA-AU 18 19292329 19292329 single base substitution C T intron_variant MELA-AU 18 19293352 19293352 single base substitution C T intron_variant MELA-AU 18 19293398 19293398 single base substitution C T intron_variant MELA-AU 18 19293860 19293861 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 19294030 19294030 single base substitution C T intron_variant MELA-AU 18 19294111 19294111 single base substitution T C intron_variant MELA-AU 18 19294304 19294304 single base substitution G A intron_variant MELA-AU 18 19294325 19294325 single base substitution G T intron_variant MELA-AU 18 19294570 19294571 multiple base substitution (>=2bp and <=200bp) TG GT intron_variant MELA-AU 18 19295363 19295363 single base substitution C T intron_variant MELA-AU 18 19295748 19295748 single base substitution C T intron_variant MELA-AU 18 19295926 19295926 single base substitution C T intron_variant MELA-AU 18 19296164 19296164 single base substitution C T intron_variant MELA-AU 18 19296346 19296346 single base substitution C T intron_variant MELA-AU 18 19296695 19296695 single base substitution C T intron_variant MELA-AU 18 19296696 19296696 single base substitution C T intron_variant MELA-AU 18 19297083 19297083 single base substitution C T intron_variant MELA-AU 18 19297608 19297608 single base substitution C T intron_variant MELA-AU 18 19297804 19297804 single base substitution C T intron_variant MELA-AU 18 19298223 19298223 single base substitution G A intron_variant MELA-AU 18 19298264 19298264 single base substitution T G intron_variant MELA-AU 18 19298709 19298709 single base substitution C T intron_variant MELA-AU 18 19298714 19298714 single base substitution G A intron_variant MELA-AU 18 19299050 19299050 single base substitution G A intron_variant MELA-AU 18 19299224 19299224 single base substitution G A intron_variant MELA-AU 18 19299532 19299532 single base substitution G A intron_variant MELA-AU 18 19299868 19299868 single base substitution C T intron_variant MELA-AU 18 19300112 19300112 single base substitution G A intron_variant MELA-AU 18 19300159 19300159 single base substitution T G intron_variant MELA-AU 18 19300300 19300300 single base substitution C T intron_variant MELA-AU 18 19300312 19300312 single base substitution C T intron_variant MELA-AU 18 19300326 19300326 single base substitution C T intron_variant MELA-AU 18 19300525 19300525 single base substitution G A intron_variant MELA-AU 18 19300698 19300699 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 19301673 19301673 single base substitution G A intron_variant MELA-AU 18 19302006 19302006 single base substitution C T intron_variant MELA-AU 18 19302163 19302163 single base substitution G A intron_variant MELA-AU 18 19302173 19302174 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 18 19302266 19302266 single base substitution C T intron_variant MELA-AU 18 19302323 19302323 single base substitution C T intron_variant MELA-AU 18 19302565 19302565 single base substitution C T intron_variant MELA-AU 18 19302877 19302877 single base substitution T C intron_variant MELA-AU 18 19303458 19303458 single base substitution C T intron_variant MELA-AU 18 19303587 19303587 single base substitution C T intron_variant MELA-AU 18 19303845 19303845 single base substitution T C intron_variant MELA-AU 18 19304087 19304087 single base substitution C T intron_variant MELA-AU 18 19304829 19304829 single base substitution G A intron_variant MELA-AU 18 19305159 19305159 single base substitution T C intron_variant MELA-AU 18 19305200 19305200 single base substitution C G intron_variant MELA-AU 18 19305208 19305208 single base substitution G A intron_variant MELA-AU 18 19305585 19305585 single base substitution G A intron_variant MELA-AU 18 19305849 19305849 single base substitution C T intron_variant MELA-AU 18 19306463 19306463 single base substitution C T intron_variant MELA-AU 18 19306933 19306933 single base substitution C T intron_variant MELA-AU 18 19308064 19308064 single base substitution C T intron_variant MELA-AU 18 19308337 19308337 single base substitution C T intron_variant MELA-AU 18 19308448 19308448 single base substitution C T intron_variant MELA-AU 18 19308449 19308449 single base substitution C T intron_variant MELA-AU 18 19308475 19308475 single base substitution C T intron_variant MELA-AU 18 19308949 19308949 single base substitution C T intron_variant MELA-AU 18 19309313 19309313 single base substitution T C intron_variant MELA-AU 18 19309896 19309896 single base substitution A T intron_variant MELA-AU 18 19309978 19309978 single base substitution T C intron_variant MELA-AU 18 19310165 19310165 single base substitution C T intron_variant MELA-AU 18 19310184 19310184 single base substitution C T intron_variant MELA-AU 18 19310380 19310380 single base substitution T G intron_variant MELA-AU 18 19310545 19310545 single base substitution C T intron_variant MELA-AU 18 19310716 19310716 single base substitution T C intron_variant MELA-AU 18 19310752 19310752 single base substitution C T intron_variant MELA-AU 18 19311086 19311086 single base substitution C T intron_variant MELA-AU 18 19311143 19311143 single base substitution C T intron_variant MELA-AU 18 19311490 19311490 single base substitution C T intron_variant MELA-AU 18 19311520 19311520 single base substitution C T intron_variant MELA-AU 18 19312385 19312385 single base substitution C T intron_variant MELA-AU 18 19312590 19312590 single base substitution G A intron_variant MELA-AU 18 19312669 19312670 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 18 19312779 19312779 single base substitution C T intron_variant MELA-AU 18 19313049 19313049 single base substitution C T intron_variant MELA-AU 18 19313696 19313696 single base substitution C T intron_variant MELA-AU 18 19314170 19314170 single base substitution C T intron_variant MELA-AU 18 19314258 19314258 single base substitution G A intron_variant MELA-AU 18 19314407 19314407 single base substitution G A intron_variant MELA-AU 18 19314439 19314439 single base substitution T C intron_variant MELA-AU 18 19315158 19315158 single base substitution C T intron_variant MELA-AU 18 19316798 19316798 single base substitution A T intron_variant MELA-AU 18 19316798 19316798 single base substitution A T upstream_gene_variant MELA-AU 18 19316949 19316949 single base substitution C T intron_variant MELA-AU 18 19316949 19316949 single base substitution C T upstream_gene_variant MELA-AU 18 19317105 19317105 single base substitution C T intron_variant MELA-AU 18 19317105 19317105 single base substitution C T upstream_gene_variant MELA-AU 18 19318391 19318391 single base substitution G A intron_variant MELA-AU 18 19318391 19318391 single base substitution G A upstream_gene_variant MELA-AU 18 19318778 19318778 single base substitution A T intron_variant MELA-AU 18 19318778 19318778 single base substitution A T upstream_gene_variant MELA-AU 18 19319400 19319400 single base substitution C T intron_variant MELA-AU 18 19319400 19319400 single base substitution C T upstream_gene_variant MELA-AU 18 19319478 19319478 single base substitution C T intron_variant MELA-AU 18 19319478 19319478 single base substitution C T upstream_gene_variant MELA-AU 18 19320611 19320611 single base substitution G A intron_variant MELA-AU 18 19320611 19320611 single base substitution G A upstream_gene_variant MELA-AU 18 19320662 19320662 single base substitution G A intron_variant MELA-AU 18 19320662 19320662 single base substitution G A upstream_gene_variant MELA-AU 18 19320675 19320675 single base substitution G A intron_variant MELA-AU 18 19320675 19320675 single base substitution G A upstream_gene_variant MELA-AU 18 19320715 19320715 single base substitution G A intron_variant MELA-AU 18 19320715 19320715 single base substitution G A upstream_gene_variant MELA-AU 18 19322584 19322584 single base substitution G A intron_variant MELA-AU 18 19323364 19323364 single base substitution G A intron_variant MELA-AU 18 19323730 19323730 single base substitution G A intron_variant MELA-AU 18 19324133 19324133 single base substitution A G intron_variant MELA-AU 18 19324326 19324326 single base substitution A T intron_variant MELA-AU 18 19324682 19324682 single base substitution C T intron_variant MELA-AU 18 19325614 19325614 single base substitution C T intron_variant MELA-AU 18 19325795 19325795 single base substitution G A intron_variant MELA-AU 18 19326219 19326219 single base substitution G A intron_variant MELA-AU 18 19326276 19326276 single base substitution C T intron_variant MELA-AU 18 19326503 19326503 single base substitution C T intron_variant MELA-AU 18 19327797 19327797 single base substitution C T intron_variant MELA-AU 18 19329128 19329128 single base substitution C T intron_variant MELA-AU 18 19329436 19329436 single base substitution T A intron_variant MELA-AU 18 19330238 19330238 single base substitution G T intron_variant MELA-AU 18 19330507 19330507 single base substitution C T intron_variant MELA-AU 18 19331381 19331381 single base substitution C T intron_variant MELA-AU 18 19331504 19331504 insertion of <=200bp - T intron_variant MELA-AU 18 19331634 19331635 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 19332000 19332000 single base substitution C T intron_variant MELA-AU 18 19333003 19333003 deletion of <=200bp C - intron_variant MELA-AU 18 19333887 19333888 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 19333999 19333999 single base substitution C T intron_variant MELA-AU 18 19334056 19334056 single base substitution C T intron_variant MELA-AU 18 19334057 19334057 single base substitution C T intron_variant MELA-AU 18 19334418 19334418 single base substitution T C intron_variant MELA-AU 18 19335047 19335047 single base substitution C T intron_variant MELA-AU 18 19336189 19336189 single base substitution G A intron_variant MELA-AU 18 19336614 19336614 deletion of <=200bp G - intron_variant MELA-AU 18 19338584 19338584 single base substitution C T intron_variant MELA-AU 18 19340674 19340674 single base substitution G A intron_variant MELA-AU 18 19340756 19340756 single base substitution C T intron_variant MELA-AU 18 19341822 19341822 single base substitution T C intron_variant MELA-AU 18 19342495 19342495 single base substitution C T intron_variant MELA-AU 18 19343465 19343465 single base substitution T C intron_variant MELA-AU 18 19343553 19343553 single base substitution C T intron_variant MELA-AU 18 19343989 19343989 single base substitution A C intron_variant MELA-AU 18 19344065 19344065 single base substitution C T intron_variant MELA-AU 18 19344190 19344190 single base substitution C T intron_variant MELA-AU 18 19344571 19344571 single base substitution T C intron_variant MELA-AU 18 19345664 19345664 single base substitution C T intron_variant MELA-AU 18 19347149 19347149 single base substitution A T intron_variant MELA-AU 18 19347357 19347357 single base substitution T A intron_variant MELA-AU 18 19347611 19347611 single base substitution C T intron_variant MELA-AU 18 19347893 19347893 single base substitution C T intron_variant MELA-AU 18 19348230 19348230 single base substitution C T intron_variant MELA-AU 18 19348380 19348380 single base substitution G T intron_variant MELA-AU 18 19349138 19349138 single base substitution C T intron_variant MELA-AU 18 19349707 19349707 single base substitution C T intron_variant MELA-AU 18 19349758 19349758 single base substitution C T intron_variant MELA-AU 18 19350261 19350261 single base substitution A G intron_variant MELA-AU 18 19350855 19350855 single base substitution A G intron_variant MELA-AU 18 19350996 19350996 single base substitution C T intron_variant MELA-AU 18 19351518 19351518 single base substitution C T intron_variant MELA-AU 18 19351694 19351694 single base substitution C T intron_variant MELA-AU 18 19351883 19351883 single base substitution C T intron_variant MELA-AU 18 19352154 19352154 single base substitution C T intron_variant MELA-AU 18 19352199 19352199 single base substitution G A intron_variant MELA-AU 18 19352646 19352646 single base substitution A G intron_variant MELA-AU 18 19353024 19353024 single base substitution C T intron_variant MELA-AU 18 19354087 19354087 single base substitution T A intron_variant MELA-AU 18 19354750 19354750 single base substitution C T intron_variant MELA-AU 18 19354991 19354991 single base substitution C T intron_variant MELA-AU 18 19355310 19355310 single base substitution C T intron_variant MELA-AU 18 19355428 19355428 single base substitution C T intron_variant MELA-AU 18 19355437 19355437 single base substitution C T intron_variant MELA-AU 18 19355467 19355467 single base substitution T G intron_variant MELA-AU 18 19355681 19355681 single base substitution G A intron_variant MELA-AU 18 19355782 19355782 single base substitution C T intron_variant MELA-AU 18 19356019 19356019 single base substitution G A intron_variant MELA-AU 18 19356249 19356249 single base substitution C T intron_variant MELA-AU 18 19356694 19356694 single base substitution C T intron_variant MELA-AU 18 19356885 19356885 single base substitution C T intron_variant MELA-AU 18 19357717 19357717 single base substitution C T intron_variant MELA-AU 18 19358177 19358177 single base substitution C T intron_variant MELA-AU 18 19359059 19359059 single base substitution C T intron_variant MELA-AU 18 19359619 19359619 single base substitution T A exon_variant MELA-AU 18 19359619 19359619 single base substitution T A missense_variant I294N 881T>A MELA-AU 18 19361410 19361410 single base substitution C T intron_variant MELA-AU 18 19362421 19362421 single base substitution C T intron_variant MELA-AU 18 19363242 19363242 single base substitution C T intron_variant MELA-AU 18 19363400 19363400 single base substitution C T intron_variant MELA-AU 18 19364915 19364915 single base substitution C T intron_variant MELA-AU 18 19364956 19364956 single base substitution C T intron_variant MELA-AU 18 19365178 19365178 single base substitution C T intron_variant MELA-AU 18 19365475 19365475 single base substitution T C intron_variant MELA-AU 18 19365786 19365786 single base substitution C T intron_variant MELA-AU 18 19366148 19366148 single base substitution C T intron_variant MELA-AU 18 19366258 19366258 single base substitution C T intron_variant MELA-AU 18 19366591 19366591 single base substitution C T intron_variant MELA-AU 18 19367029 19367029 single base substitution G A intron_variant MELA-AU 18 19367205 19367205 single base substitution C T intron_variant MELA-AU 18 19367231 19367231 single base substitution G A intron_variant MELA-AU 18 19367609 19367609 single base substitution C T intron_variant MELA-AU 18 19367896 19367896 single base substitution C T intron_variant MELA-AU 18 19368137 19368137 single base substitution C T intron_variant MELA-AU 18 19371241 19371242 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 19371312 19371312 single base substitution G A exon_variant MELA-AU 18 19371312 19371312 single base substitution G A intron_variant MELA-AU 18 19371988 19371988 single base substitution A G intron_variant MELA-AU 18 19372177 19372177 single base substitution T C intron_variant MELA-AU 18 19372202 19372202 single base substitution C T intron_variant MELA-AU 18 19372425 19372426 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 19373390 19373390 single base substitution C T intron_variant MELA-AU 18 19373390 19373390 single base substitution C T upstream_gene_variant MELA-AU 18 19374052 19374052 single base substitution C T intron_variant MELA-AU 18 19374052 19374052 single base substitution C T upstream_gene_variant MELA-AU 18 19374468 19374468 single base substitution C T intron_variant MELA-AU 18 19374468 19374468 single base substitution C T upstream_gene_variant MELA-AU 18 19375177 19375177 single base substitution T C intron_variant MELA-AU 18 19375177 19375177 single base substitution T C upstream_gene_variant MELA-AU 18 19375665 19375665 single base substitution G A intron_variant MELA-AU 18 19375665 19375665 single base substitution G A upstream_gene_variant MELA-AU 18 19375736 19375736 single base substitution C T intron_variant MELA-AU 18 19375736 19375736 single base substitution C T upstream_gene_variant MELA-AU 18 19375816 19375816 single base substitution C T intron_variant MELA-AU 18 19375816 19375816 single base substitution C T upstream_gene_variant MELA-AU 18 19376236 19376236 single base substitution T G intron_variant MELA-AU 18 19376236 19376236 single base substitution T G upstream_gene_variant MELA-AU 18 19377840 19377840 single base substitution C G intron_variant MELA-AU 18 19377840 19377840 single base substitution C G upstream_gene_variant MELA-AU 18 19378415 19378415 single base substitution T C intron_variant MELA-AU 18 19378985 19378985 single base substitution T C intron_variant MELA-AU 18 19378985 19378985 single base substitution T C upstream_gene_variant MELA-AU 18 19379015 19379015 single base substitution T C intron_variant MELA-AU 18 19379015 19379015 single base substitution T C upstream_gene_variant MELA-AU 18 19379393 19379393 single base substitution C T intron_variant MELA-AU 18 19379393 19379393 single base substitution C T upstream_gene_variant MELA-AU 18 19379611 19379611 single base substitution G A intron_variant MELA-AU 18 19379611 19379611 single base substitution G A upstream_gene_variant MELA-AU 18 19380220 19380220 single base substitution C T intron_variant MELA-AU 18 19380220 19380220 single base substitution C T upstream_gene_variant MELA-AU 18 19380886 19380887 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 19380886 19380887 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 18 19381562 19381562 single base substitution C T intron_variant MELA-AU 18 19381562 19381562 single base substitution C T upstream_gene_variant MELA-AU 18 19381566 19381566 single base substitution C T intron_variant MELA-AU 18 19381566 19381566 single base substitution C T upstream_gene_variant MELA-AU 18 19382061 19382061 single base substitution C T intron_variant MELA-AU 18 19382061 19382061 single base substitution C T upstream_gene_variant MELA-AU 18 19382406 19382406 single base substitution C T intron_variant MELA-AU 18 19382406 19382406 single base substitution C T upstream_gene_variant MELA-AU 18 19382459 19382459 single base substitution C T intron_variant MELA-AU 18 19382459 19382459 single base substitution C T upstream_gene_variant MELA-AU 18 19382626 19382626 single base substitution C T intron_variant MELA-AU 18 19382626 19382626 single base substitution C T upstream_gene_variant MELA-AU 18 19383271 19383271 single base substitution G A intron_variant MELA-AU 18 19383271 19383271 single base substitution G A upstream_gene_variant MELA-AU 18 19384066 19384066 single base substitution A G intron_variant MELA-AU 18 19384517 19384517 single base substitution T C intron_variant MELA-AU 18 19385192 19385192 single base substitution T A intron_variant MELA-AU 18 19385232 19385232 single base substitution C T intron_variant MELA-AU 18 19385509 19385509 single base substitution T A intron_variant MELA-AU 18 19385671 19385671 single base substitution T C intron_variant MELA-AU 18 19385754 19385754 single base substitution G A intron_variant MELA-AU 18 19385895 19385895 single base substitution C T intron_variant MELA-AU 18 19386102 19386102 single base substitution G A intron_variant MELA-AU 18 19386276 19386276 single base substitution T C intron_variant MELA-AU 18 19386587 19386587 single base substitution T G intron_variant MELA-AU 18 19386590 19386590 single base substitution T A intron_variant MELA-AU 18 19387330 19387330 single base substitution C T intron_variant MELA-AU 18 19387516 19387516 single base substitution G A intron_variant MELA-AU 18 19387974 19387974 single base substitution C T intron_variant MELA-AU 18 19388091 19388091 single base substitution G T intron_variant MELA-AU 18 19390228 19390228 single base substitution C T intron_variant MELA-AU 18 19390361 19390361 single base substitution C T intron_variant MELA-AU 18 19390801 19390801 single base substitution A T intron_variant MELA-AU 18 19391516 19391516 single base substitution G T intron_variant MELA-AU 18 19391518 19391518 single base substitution C A intron_variant MELA-AU 18 19391877 19391877 single base substitution C T intron_variant MELA-AU 18 19392799 19392799 single base substitution A C intron_variant MELA-AU 18 19392812 19392812 single base substitution A G intron_variant MELA-AU 18 19393933 19393933 single base substitution C T intron_variant MELA-AU 18 19394009 19394009 single base substitution A G intron_variant MELA-AU 18 19394232 19394232 single base substitution C T intron_variant MELA-AU 18 19394733 19394733 single base substitution C T intron_variant MELA-AU 18 19395254 19395254 single base substitution C T intron_variant MELA-AU 18 19395310 19395310 single base substitution G A intron_variant MELA-AU 18 19396453 19396453 single base substitution T A intron_variant MELA-AU 18 19397100 19397100 single base substitution C T intron_variant MELA-AU 18 19398397 19398397 single base substitution G A intron_variant MELA-AU 18 19398562 19398562 single base substitution C T intron_variant MELA-AU 18 19398619 19398619 single base substitution C T intron_variant MELA-AU 18 19398645 19398645 single base substitution C T intron_variant MELA-AU 18 19398756 19398756 single base substitution C T intron_variant MELA-AU 18 19398778 19398778 single base substitution C T intron_variant MELA-AU 18 19399010 19399010 single base substitution A G intron_variant MELA-AU 18 19399207 19399208 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 19399423 19399423 single base substitution G T intron_variant MELA-AU 18 19400004 19400004 single base substitution C T downstream_gene_variant MELA-AU 18 19400004 19400004 single base substitution C T intron_variant MELA-AU 18 19400112 19400112 single base substitution G T downstream_gene_variant MELA-AU 18 19400112 19400112 single base substitution G T intron_variant MELA-AU 18 19400122 19400122 single base substitution C T downstream_gene_variant MELA-AU 18 19400122 19400122 single base substitution C T intron_variant MELA-AU 18 19401122 19401122 single base substitution C T downstream_gene_variant MELA-AU 18 19401122 19401122 single base substitution C T intron_variant MELA-AU 18 19401383 19401383 single base substitution C T downstream_gene_variant MELA-AU 18 19401383 19401383 single base substitution C T intron_variant MELA-AU 18 19401565 19401565 single base substitution T G downstream_gene_variant MELA-AU 18 19401565 19401565 single base substitution T G intron_variant MELA-AU 18 19401804 19401804 single base substitution C A downstream_gene_variant MELA-AU 18 19401804 19401804 single base substitution C A intron_variant MELA-AU 18 19402069 19402069 single base substitution A C downstream_gene_variant MELA-AU 18 19402069 19402069 single base substitution A C intron_variant MELA-AU 18 19402671 19402671 single base substitution C T downstream_gene_variant MELA-AU 18 19402671 19402671 single base substitution C T intron_variant MELA-AU 18 19403626 19403626 single base substitution A T downstream_gene_variant MELA-AU 18 19403626 19403626 single base substitution A T intron_variant MELA-AU 18 19403874 19403874 single base substitution C T downstream_gene_variant MELA-AU 18 19403874 19403874 single base substitution C T intron_variant MELA-AU 18 19404776 19404776 single base substitution A T intron_variant MELA-AU 18 19405880 19405880 single base substitution G A intron_variant MELA-AU 18 19407341 19407341 single base substitution A T intron_variant MELA-AU 18 19408072 19408072 single base substitution T G intron_variant MELA-AU 18 19409385 19409385 single base substitution C T intron_variant MELA-AU 18 19409737 19409737 single base substitution C T intron_variant MELA-AU 18 19410810 19410810 single base substitution C T intron_variant MELA-AU 18 19411260 19411260 single base substitution T C intron_variant MELA-AU 18 19411361 19411361 single base substitution C T intron_variant MELA-AU 18 19411717 19411717 single base substitution C T intron_variant MELA-AU 18 19413574 19413574 single base substitution T C intron_variant MELA-AU 18 19413683 19413683 single base substitution C T intron_variant MELA-AU 18 19414100 19414100 single base substitution C T intron_variant MELA-AU 18 19414563 19414563 single base substitution T C intron_variant MELA-AU 18 19414574 19414574 single base substitution T C intron_variant MELA-AU 18 19414891 19414891 single base substitution G T intron_variant MELA-AU 18 19415018 19415018 single base substitution A G intron_variant MELA-AU 18 19415185 19415185 single base substitution T C intron_variant MELA-AU 18 19416917 19416917 single base substitution C T intron_variant MELA-AU 18 19416960 19416960 single base substitution T C intron_variant MELA-AU 18 19417046 19417046 single base substitution G T intron_variant MELA-AU 18 19417463 19417463 single base substitution C T intron_variant MELA-AU 18 19417986 19417986 single base substitution C T intron_variant MELA-AU 18 19418443 19418443 single base substitution A G exon_variant MELA-AU 18 19418443 19418443 single base substitution A G synonymous_variant E649E 1947A>G MELA-AU 18 19418481 19418481 single base substitution C T intron_variant MELA-AU 18 19418586 19418586 single base substitution G T intron_variant MELA-AU 18 19418816 19418816 single base substitution A C intron_variant MELA-AU 18 19418864 19418864 single base substitution G C intron_variant MELA-AU 18 19419232 19419232 single base substitution C T intron_variant MELA-AU 18 19419290 19419290 single base substitution C T intron_variant MELA-AU 18 19419611 19419611 single base substitution C T intron_variant MELA-AU 18 19420188 19420188 single base substitution C T intron_variant MELA-AU 18 19421108 19421108 deletion of <=200bp C - intron_variant MELA-AU 18 19422040 19422040 single base substitution G A intron_variant MELA-AU 18 19422493 19422493 single base substitution C T intron_variant MELA-AU 18 19423113 19423113 single base substitution C T exon_variant MELA-AU 18 19423113 19423113 single base substitution C T stop_gained Q662* 1984C>T MELA-AU 18 19424107 19424107 single base substitution C T exon_variant MELA-AU 18 19424107 19424107 single base substitution C T missense_variant P702S 2104C>T MELA-AU 18 19424137 19424137 single base substitution T A exon_variant MELA-AU 18 19424137 19424137 single base substitution T A missense_variant L712M 2134T>A MELA-AU 18 19425010 19425010 single base substitution C T intron_variant MELA-AU 18 19425353 19425353 single base substitution C T intron_variant MELA-AU 18 19427146 19427146 single base substitution C T intron_variant MELA-AU 18 19428609 19428609 single base substitution C T intron_variant MELA-AU 18 19429009 19429009 single base substitution T C intron_variant MELA-AU 18 19429076 19429076 single base substitution T G intron_variant MELA-AU 18 19431429 19431429 single base substitution C T intron_variant MELA-AU 18 19431461 19431462 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 19431945 19431945 single base substitution A G intron_variant MELA-AU 18 19433496 19433496 single base substitution G A intron_variant MELA-AU 18 19434971 19434971 single base substitution C T intron_variant MELA-AU 18 19435271 19435271 single base substitution C T intron_variant MELA-AU 18 19435751 19435751 single base substitution C T intron_variant MELA-AU 18 19436717 19436717 single base substitution C T intron_variant MELA-AU 18 19437322 19437322 single base substitution C T intron_variant MELA-AU 18 19437421 19437421 single base substitution C T intron_variant MELA-AU 18 19437594 19437594 single base substitution T C intron_variant MELA-AU 18 19438091 19438091 single base substitution C T intron_variant MELA-AU 18 19438107 19438107 single base substitution A T intron_variant MELA-AU 18 19439552 19439552 single base substitution T A intron_variant MELA-AU 18 19439675 19439675 single base substitution C T intron_variant MELA-AU 18 19439833 19439833 single base substitution G A intron_variant MELA-AU 18 19440972 19440972 single base substitution C T intron_variant MELA-AU 18 19441013 19441013 single base substitution G C intron_variant MELA-AU 18 19441028 19441028 single base substitution A G intron_variant MELA-AU 18 19441097 19441097 single base substitution T C intron_variant MELA-AU 18 19442028 19442028 single base substitution A T intron_variant MELA-AU 18 19442117 19442117 single base substitution C T intron_variant MELA-AU 18 19442913 19442913 single base substitution C T intron_variant MELA-AU 18 19442938 19442938 single base substitution T G intron_variant MELA-AU 18 19443231 19443231 single base substitution C T intron_variant MELA-AU 18 19443468 19443468 single base substitution C T intron_variant MELA-AU 18 19443785 19443785 single base substitution T G intron_variant MELA-AU 18 19444034 19444034 single base substitution C T intron_variant MELA-AU 18 19444355 19444355 single base substitution A G intron_variant MELA-AU 18 19445240 19445240 single base substitution C T 3_prime_UTR_variant MELA-AU 18 19445240 19445240 single base substitution C T downstream_gene_variant MELA-AU 18 19445616 19445616 single base substitution C T 3_prime_UTR_variant MELA-AU 18 19445616 19445616 single base substitution C T downstream_gene_variant MELA-AU 18 19445683 19445683 single base substitution C T 3_prime_UTR_variant MELA-AU 18 19445683 19445683 single base substitution C T downstream_gene_variant MELA-AU 18 19446182 19446182 single base substitution C T 3_prime_UTR_variant MELA-AU 18 19446182 19446182 single base substitution C T downstream_gene_variant MELA-AU 18 19447030 19447030 single base substitution G A 3_prime_UTR_variant MELA-AU 18 19447030 19447030 single base substitution G A downstream_gene_variant MELA-AU 18 19447770 19447770 single base substitution T C 3_prime_UTR_variant MELA-AU 18 19447770 19447770 single base substitution T C downstream_gene_variant MELA-AU 18 19447826 19447826 single base substitution C T 3_prime_UTR_variant MELA-AU 18 19447826 19447826 single base substitution C T downstream_gene_variant MELA-AU 18 19449778 19449778 single base substitution C T 3_prime_UTR_variant MELA-AU 18 19449778 19449778 single base substitution C T downstream_gene_variant MELA-AU 18 19449818 19449818 single base substitution C A 3_prime_UTR_variant MELA-AU 18 19449818 19449818 single base substitution C A downstream_gene_variant MELA-AU 18 19450016 19450016 single base substitution C T 3_prime_UTR_variant MELA-AU 18 19450130 19450130 single base substitution C T 3_prime_UTR_variant MELA-AU 18 19450403 19450403 single base substitution C T 3_prime_UTR_variant MELA-AU 18 19450713 19450713 single base substitution A G 3_prime_UTR_variant MELA-AU 18 19450931 19450931 single base substitution C T downstream_gene_variant MELA-AU 18 19452388 19452388 single base substitution T A downstream_gene_variant MELA-AU 18 19453096 19453096 single base substitution G A downstream_gene_variant MELA-AU 18 19453457 19453457 single base substitution C T downstream_gene_variant MELA-AU 18 19453599 19453599 single base substitution C T downstream_gene_variant MELA-AU 18 19454463 19454463 single base substitution C T downstream_gene_variant MELA-AU 18 19454585 19454585 single base substitution G A downstream_gene_variant MELA-AU 18 19455086 19455086 single base substitution C T downstream_gene_variant ORCA-IN 18 19281188 19281188 deletion of <=200bp C - upstream_gene_variant ORCA-IN 18 19306937 19306937 single base substitution C G intron_variant ORCA-IN 18 19312314 19312314 single base substitution C T intron_variant ORCA-IN 18 19325668 19325668 single base substitution C A intron_variant ORCA-IN 18 19345740 19345740 single base substitution G T exon_variant ORCA-IN 18 19345740 19345740 single base substitution G T missense_variant K79N 237G>T ORCA-IN 18 19355235 19355235 single base substitution C T intron_variant ORCA-IN 18 19383870 19383870 deletion of <=200bp A - exon_variant ORCA-IN 18 19383870 19383870 deletion of <=200bp A - frameshift_variant V458 ORCA-IN 18 19383870 19383870 deletion of <=200bp A - splice_region_variant ORCA-IN 18 19395589 19395589 single base substitution G T exon_variant ORCA-IN 18 19395589 19395589 single base substitution G T missense_variant D498Y 1492G>T ORCA-IN 18 19397722 19397722 single base substitution C T intron_variant ORCA-IN 18 19400985 19400985 single base substitution C T downstream_gene_variant ORCA-IN 18 19400985 19400985 single base substitution C T intron_variant ORCA-IN 18 19437122 19437122 single base substitution G A exon_variant ORCA-IN 18 19437122 19437122 single base substitution G A synonymous_variant Q899Q 2697G>A OV-AU 18 19284705 19284705 single base substitution C G upstream_gene_variant OV-AU 18 19285241 19285241 single base substitution G A intron_variant OV-AU 18 19285501 19285501 single base substitution A T intron_variant OV-AU 18 19289561 19289561 single base substitution C A intron_variant OV-AU 18 19292369 19292369 single base substitution A C intron_variant OV-AU 18 19301064 19301064 single base substitution A G intron_variant OV-AU 18 19305659 19305659 single base substitution C T intron_variant OV-AU 18 19307530 19307530 single base substitution T A intron_variant OV-AU 18 19308095 19308095 single base substitution C T intron_variant OV-AU 18 19308855 19308855 single base substitution G A intron_variant OV-AU 18 19312531 19312531 single base substitution G C intron_variant OV-AU 18 19316010 19316010 single base substitution A G intron_variant OV-AU 18 19317324 19317324 single base substitution A G intron_variant OV-AU 18 19317324 19317324 single base substitution A G upstream_gene_variant OV-AU 18 19320547 19320547 single base substitution C G intron_variant OV-AU 18 19320547 19320547 single base substitution C G upstream_gene_variant OV-AU 18 19321605 19321614 deletion of <=200bp GGCCCGGACT - frameshift_variant GPDW21 OV-AU 18 19321605 19321614 deletion of <=200bp GGCCCGGACT - intron_variant OV-AU 18 19322097 19322097 single base substitution G A intron_variant OV-AU 18 19323334 19323334 single base substitution G A intron_variant OV-AU 18 19332669 19332669 single base substitution C A intron_variant OV-AU 18 19334818 19334818 single base substitution T G intron_variant OV-AU 18 19335361 19335361 single base substitution C G intron_variant OV-AU 18 19339230 19339230 single base substitution G A intron_variant OV-AU 18 19344876 19344876 single base substitution C T intron_variant OV-AU 18 19351977 19351977 single base substitution T C intron_variant OV-AU 18 19363664 19363664 single base substitution G A intron_variant OV-AU 18 19364671 19364671 single base substitution T G intron_variant OV-AU 18 19366704 19366704 single base substitution C T intron_variant OV-AU 18 19374275 19374275 single base substitution G A intron_variant OV-AU 18 19374275 19374275 single base substitution G A upstream_gene_variant OV-AU 18 19375360 19375360 single base substitution T C intron_variant OV-AU 18 19375360 19375360 single base substitution T C upstream_gene_variant OV-AU 18 19384745 19384745 single base substitution G A intron_variant OV-AU 18 19385785 19385785 single base substitution T G intron_variant OV-AU 18 19396918 19396918 single base substitution G A intron_variant OV-AU 18 19399831 19399831 single base substitution G C downstream_gene_variant OV-AU 18 19399831 19399831 single base substitution G C intron_variant OV-AU 18 19424694 19424694 single base substitution A G intron_variant OV-AU 18 19425671 19425671 single base substitution G T intron_variant OV-AU 18 19428886 19428886 single base substitution C T intron_variant OV-AU 18 19435919 19435919 single base substitution C T intron_variant OV-AU 18 19442653 19442653 single base substitution T C intron_variant OV-AU 18 19442926 19442926 single base substitution G C intron_variant OV-AU 18 19445137 19445137 single base substitution G A 3_prime_UTR_variant OV-AU 18 19445137 19445137 single base substitution G A downstream_gene_variant OV-AU 18 19449942 19449942 single base substitution T C 3_prime_UTR_variant OV-US 18 19429212 19429212 single base substitution G C exon_variant OV-US 18 19429212 19429212 single base substitution G C missense_variant E817Q 2449G>C PACA-AU 18 19280146 19280146 single base substitution G T upstream_gene_variant PACA-AU 18 19292922 19292922 single base substitution T G intron_variant PACA-AU 18 19297416 19297416 single base substitution G A intron_variant PACA-AU 18 19297467 19297467 single base substitution G A intron_variant PACA-AU 18 19297550 19297550 single base substitution C A intron_variant PACA-AU 18 19297558 19297558 single base substitution G A intron_variant PACA-AU 18 19297572 19297572 single base substitution G A intron_variant PACA-AU 18 19297834 19297834 single base substitution G A intron_variant PACA-AU 18 19298058 19298058 single base substitution G A intron_variant PACA-AU 18 19298059 19298059 single base substitution G T intron_variant PACA-AU 18 19298156 19298156 single base substitution G A intron_variant PACA-AU 18 19298162 19298162 single base substitution G A intron_variant PACA-AU 18 19299417 19299417 single base substitution T A intron_variant PACA-AU 18 19301370 19301370 single base substitution G A intron_variant PACA-AU 18 19302012 19302012 insertion of <=200bp - GT intron_variant PACA-AU 18 19303867 19303867 single base substitution C T intron_variant PACA-AU 18 19305726 19305726 single base substitution A G intron_variant PACA-AU 18 19307898 19307898 single base substitution C G intron_variant PACA-AU 18 19308192 19308192 single base substitution G A intron_variant PACA-AU 18 19309417 19309417 single base substitution C T intron_variant PACA-AU 18 19310852 19310852 single base substitution G C intron_variant PACA-AU 18 19312429 19312429 single base substitution C T intron_variant PACA-AU 18 19313266 19313266 deletion of <=200bp T - intron_variant PACA-AU 18 19321786 19321786 single base substitution C T intron_variant PACA-AU 18 19323239 19323239 single base substitution A G intron_variant PACA-AU 18 19324968 19324968 single base substitution G T intron_variant PACA-AU 18 19324977 19324977 single base substitution G A intron_variant PACA-AU 18 19325277 19325277 single base substitution G A intron_variant PACA-AU 18 19331503 19331503 single base substitution G T intron_variant PACA-AU 18 19333443 19333443 single base substitution C G intron_variant PACA-AU 18 19335074 19335074 single base substitution G C intron_variant PACA-AU 18 19337446 19337446 single base substitution G T intron_variant PACA-AU 18 19345740 19345740 single base substitution G A exon_variant PACA-AU 18 19345740 19345740 single base substitution G A synonymous_variant K79K 237G>A PACA-AU 18 19349903 19349903 single base substitution G A intron_variant PACA-AU 18 19351192 19351192 single base substitution T G intron_variant PACA-AU 18 19354336 19354361 deletion of <=200bp AGTCAGGAGTTTGAGATCACACTGGC - intron_variant PACA-AU 18 19355075 19355075 single base substitution T G intron_variant PACA-AU 18 19356434 19356434 single base substitution C T intron_variant PACA-AU 18 19359270 19359270 single base substitution T A intron_variant PACA-AU 18 19362071 19362071 single base substitution T A intron_variant PACA-AU 18 19369943 19369943 single base substitution T G intron_variant PACA-AU 18 19372266 19372284 deletion of <=200bp CTCCATCCTGTCCCATGTA - intron_variant PACA-AU 18 19376877 19376877 single base substitution G A intron_variant PACA-AU 18 19376877 19376877 single base substitution G A upstream_gene_variant PACA-AU 18 19377013 19377013 single base substitution A C intron_variant PACA-AU 18 19377013 19377013 single base substitution A C upstream_gene_variant PACA-AU 18 19378349 19378349 deletion of <=200bp A - intron_variant PACA-AU 18 19382779 19382779 single base substitution G A intron_variant PACA-AU 18 19382779 19382779 single base substitution G A upstream_gene_variant PACA-AU 18 19386841 19386841 single base substitution C G intron_variant PACA-AU 18 19390938 19390938 single base substitution C T intron_variant PACA-AU 18 19395931 19395931 insertion of <=200bp - T intron_variant PACA-AU 18 19396389 19396389 single base substitution C T intron_variant PACA-AU 18 19398200 19398200 single base substitution C T intron_variant PACA-AU 18 19410379 19410379 single base substitution T C intron_variant PACA-AU 18 19411076 19411076 single base substitution A C intron_variant PACA-AU 18 19415496 19415496 single base substitution A C intron_variant PACA-AU 18 19415539 19415539 single base substitution C A intron_variant PACA-AU 18 19429837 19429837 single base substitution G C intron_variant PACA-AU 18 19430812 19430812 single base substitution A C intron_variant PACA-AU 18 19431209 19431209 single base substitution A G intron_variant PACA-AU 18 19437726 19437726 single base substitution G T intron_variant PACA-AU 18 19439056 19439056 single base substitution A C intron_variant PACA-AU 18 19439781 19439781 single base substitution T C intron_variant PACA-AU 18 19444526 19444526 single base substitution A T exon_variant PACA-AU 18 19444526 19444526 single base substitution A T missense_variant I974F 2920A>T PACA-AU 18 19451734 19451734 single base substitution T A downstream_gene_variant PACA-CA 18 19281504 19281504 single base substitution C A upstream_gene_variant PACA-CA 18 19284696 19284696 single base substitution G A upstream_gene_variant PACA-CA 18 19288853 19288853 single base substitution T G intron_variant PACA-CA 18 19290902 19290902 single base substitution A C intron_variant PACA-CA 18 19292491 19292491 single base substitution C T intron_variant PACA-CA 18 19292498 19292498 single base substitution T C intron_variant PACA-CA 18 19299310 19299310 single base substitution G A intron_variant PACA-CA 18 19299474 19299474 single base substitution C A intron_variant PACA-CA 18 19303495 19303495 single base substitution G T intron_variant PACA-CA 18 19306662 19306670 deletion of <=200bp TATGTAGAT - intron_variant PACA-CA 18 19313116 19313116 single base substitution C G intron_variant PACA-CA 18 19313117 19313117 single base substitution C A intron_variant PACA-CA 18 19313155 19313155 single base substitution C G intron_variant PACA-CA 18 19314234 19314234 deletion of <=200bp T - intron_variant PACA-CA 18 19316977 19316977 single base substitution A T intron_variant PACA-CA 18 19316977 19316977 single base substitution A T upstream_gene_variant PACA-CA 18 19319893 19319893 single base substitution A C intron_variant PACA-CA 18 19319893 19319893 single base substitution A C upstream_gene_variant PACA-CA 18 19319925 19319925 single base substitution T A intron_variant PACA-CA 18 19319925 19319925 single base substitution T A upstream_gene_variant PACA-CA 18 19325231 19325231 single base substitution G C intron_variant PACA-CA 18 19331899 19331899 single base substitution C T intron_variant PACA-CA 18 19333253 19333253 single base substitution G A intron_variant PACA-CA 18 19334292 19334292 single base substitution A T intron_variant PACA-CA 18 19334381 19334381 single base substitution C A intron_variant PACA-CA 18 19336119 19336119 single base substitution T C intron_variant PACA-CA 18 19337041 19337041 single base substitution T G intron_variant PACA-CA 18 19337917 19337917 single base substitution C T intron_variant PACA-CA 18 19338552 19338552 single base substitution A G intron_variant PACA-CA 18 19339190 19339190 single base substitution G A intron_variant PACA-CA 18 19343516 19343516 deletion of <=200bp T - intron_variant PACA-CA 18 19344660 19344660 single base substitution C T intron_variant PACA-CA 18 19344781 19344794 deletion of <=200bp AGTAAATACAGACG - intron_variant PACA-CA 18 19345535 19345535 deletion of <=200bp A - intron_variant PACA-CA 18 19346250 19346250 single base substitution T A intron_variant PACA-CA 18 19347710 19347710 single base substitution G A intron_variant PACA-CA 18 19352407 19352407 single base substitution G A intron_variant PACA-CA 18 19353180 19353180 single base substitution G A intron_variant PACA-CA 18 19356571 19356571 single base substitution G C intron_variant PACA-CA 18 19357313 19357313 single base substitution G A intron_variant PACA-CA 18 19359271 19359271 single base substitution T A intron_variant PACA-CA 18 19364523 19364523 single base substitution G A intron_variant PACA-CA 18 19374264 19374264 single base substitution C G intron_variant PACA-CA 18 19374264 19374264 single base substitution C G upstream_gene_variant PACA-CA 18 19377449 19377449 deletion of <=200bp A - intron_variant PACA-CA 18 19377449 19377449 deletion of <=200bp A - upstream_gene_variant PACA-CA 18 19378030 19378030 insertion of <=200bp - T intron_variant PACA-CA 18 19378030 19378030 insertion of <=200bp - T upstream_gene_variant PACA-CA 18 19380181 19380181 single base substitution A T intron_variant PACA-CA 18 19380181 19380181 single base substitution A T upstream_gene_variant PACA-CA 18 19380284 19380284 single base substitution C G intron_variant PACA-CA 18 19380284 19380284 single base substitution C G upstream_gene_variant PACA-CA 18 19380880 19380880 single base substitution G A intron_variant PACA-CA 18 19380880 19380880 single base substitution G A upstream_gene_variant PACA-CA 18 19383100 19383100 single base substitution C T intron_variant PACA-CA 18 19383100 19383100 single base substitution C T upstream_gene_variant PACA-CA 18 19386388 19386388 single base substitution C G intron_variant PACA-CA 18 19395382 19395382 single base substitution G A intron_variant PACA-CA 18 19398850 19398850 single base substitution C T intron_variant PACA-CA 18 19402670 19402670 insertion of <=200bp - TC downstream_gene_variant PACA-CA 18 19402670 19402670 insertion of <=200bp - TC intron_variant PACA-CA 18 19403720 19403720 insertion of <=200bp - T downstream_gene_variant PACA-CA 18 19403720 19403720 insertion of <=200bp - T intron_variant PACA-CA 18 19404183 19404183 single base substitution G C downstream_gene_variant PACA-CA 18 19404183 19404183 single base substitution G C intron_variant PACA-CA 18 19404306 19404306 single base substitution G C downstream_gene_variant PACA-CA 18 19404306 19404306 single base substitution G C intron_variant PACA-CA 18 19404374 19404374 single base substitution G C downstream_gene_variant PACA-CA 18 19404374 19404374 single base substitution G C intron_variant PACA-CA 18 19411187 19411187 single base substitution G C intron_variant PACA-CA 18 19416564 19416564 single base substitution A G intron_variant PACA-CA 18 19416631 19416631 single base substitution A T intron_variant PACA-CA 18 19418225 19418225 insertion of <=200bp - T intron_variant PACA-CA 18 19422305 19422305 single base substitution C A intron_variant PACA-CA 18 19427710 19427710 single base substitution G A intron_variant PACA-CA 18 19433075 19433079 deletion of <=200bp CTGTG - intron_variant PACA-CA 18 19433233 19433233 insertion of <=200bp - AA intron_variant PACA-CA 18 19434333 19434333 single base substitution A G intron_variant PACA-CA 18 19434899 19434899 single base substitution G A intron_variant PACA-CA 18 19435040 19435040 single base substitution G A intron_variant PACA-CA 18 19435365 19435365 single base substitution G A intron_variant PACA-CA 18 19435845 19435845 single base substitution G A intron_variant PACA-CA 18 19439070 19439070 single base substitution G A intron_variant PACA-CA 18 19441311 19441311 single base substitution C T intron_variant PACA-CA 18 19441321 19441321 single base substitution C T intron_variant PACA-CA 18 19441515 19441515 single base substitution C T intron_variant PACA-CA 18 19441927 19441927 single base substitution A G intron_variant PACA-CA 18 19451484 19451484 single base substitution A T downstream_gene_variant PACA-CA 18 19452428 19452428 single base substitution G T downstream_gene_variant PAEN-AU 18 19286514 19286514 single base substitution C T intron_variant PAEN-AU 18 19335117 19335117 single base substitution T G intron_variant PAEN-AU 18 19339226 19339226 single base substitution C T intron_variant PAEN-AU 18 19365390 19365390 single base substitution T C intron_variant PAEN-AU 18 19392200 19392200 single base substitution C T intron_variant PAEN-AU 18 19396771 19396771 single base substitution A C intron_variant PAEN-AU 18 19423296 19423296 single base substitution T C intron_variant PAEN-IT 18 19292269 19292269 single base substitution C G intron_variant PAEN-IT 18 19315098 19315098 single base substitution C T intron_variant PAEN-IT 18 19328689 19328689 single base substitution G A intron_variant PAEN-IT 18 19361643 19361643 single base substitution T A intron_variant PAEN-IT 18 19377135 19377135 single base substitution C A intron_variant PAEN-IT 18 19377135 19377135 single base substitution C A upstream_gene_variant PAEN-IT 18 19397421 19397421 single base substitution G A intron_variant PBCA-DE 18 19296813 19296813 insertion of <=200bp - A intron_variant PBCA-DE 18 19299131 19299132 deletion of <=200bp AA - intron_variant PBCA-DE 18 19311980 19311981 deletion of <=200bp AT - intron_variant PBCA-DE 18 19313162 19313162 single base substitution T A intron_variant PBCA-DE 18 19314455 19314455 single base substitution C T intron_variant PBCA-DE 18 19337442 19337442 single base substitution G A intron_variant PBCA-DE 18 19338950 19338950 single base substitution A T intron_variant PBCA-DE 18 19339925 19339925 single base substitution C T intron_variant PBCA-DE 18 19339927 19339927 single base substitution A T intron_variant PBCA-DE 18 19343484 19343484 single base substitution C T intron_variant PBCA-DE 18 19343505 19343505 single base substitution C T intron_variant PBCA-DE 18 19347510 19347510 insertion of <=200bp - T intron_variant PBCA-DE 18 19347525 19347525 single base substitution T C intron_variant PBCA-DE 18 19354337 19354337 single base substitution G A intron_variant PBCA-DE 18 19354662 19354662 single base substitution G T intron_variant PBCA-DE 18 19358733 19358733 insertion of <=200bp - T intron_variant PBCA-DE 18 19363206 19363206 insertion of <=200bp - T intron_variant PBCA-DE 18 19373743 19373751 deletion of <=200bp AAAAAAAAA - intron_variant PBCA-DE 18 19373743 19373751 deletion of <=200bp AAAAAAAAA - upstream_gene_variant PBCA-DE 18 19374404 19374405 deletion of <=200bp CT - intron_variant PBCA-DE 18 19374404 19374405 deletion of <=200bp CT - upstream_gene_variant PBCA-DE 18 19385852 19385852 single base substitution C T intron_variant PBCA-DE 18 19395977 19395977 single base substitution G T intron_variant PBCA-DE 18 19406490 19406499 deletion of <=200bp TTACTTCTCA - intron_variant PBCA-DE 18 19416337 19416337 single base substitution C T intron_variant PBCA-DE 18 19421585 19421585 deletion of <=200bp T - intron_variant PBCA-DE 18 19424409 19424409 insertion of <=200bp - TGT intron_variant PBCA-DE 18 19424725 19424725 single base substitution A G intron_variant PBCA-DE 18 19424755 19424755 single base substitution T C intron_variant PBCA-DE 18 19431289 19431289 single base substitution G A intron_variant PBCA-DE 18 19437575 19437575 single base substitution G C intron_variant PBCA-DE 18 19438524 19438524 single base substitution G A exon_variant PBCA-DE 18 19438524 19438524 single base substitution G A missense_variant V933I 2797G>A PBCA-DE 18 19449955 19449955 single base substitution T C 3_prime_UTR_variant PBCA-DE 18 19453492 19453492 single base substitution T A downstream_gene_variant PRAD-CA 18 19281188 19281188 single base substitution C T upstream_gene_variant PRAD-CA 18 19287720 19287720 single base substitution G A intron_variant PRAD-CA 18 19293110 19293110 single base substitution C T intron_variant PRAD-CA 18 19299048 19299048 single base substitution C T intron_variant PRAD-CA 18 19314275 19314275 single base substitution C T intron_variant PRAD-CA 18 19321726 19321726 single base substitution G C intron_variant PRAD-CA 18 19321726 19321726 single base substitution G C missense_variant R61P 182G>C PRAD-CA 18 19325570 19325570 single base substitution G A intron_variant PRAD-CA 18 19331300 19331300 single base substitution C T intron_variant PRAD-CA 18 19344700 19344700 single base substitution C A intron_variant PRAD-CA 18 19356429 19356429 single base substitution C T intron_variant PRAD-CA 18 19385511 19385511 single base substitution A G intron_variant PRAD-CA 18 19417235 19417235 single base substitution C G intron_variant PRAD-CA 18 19439002 19439002 single base substitution G A intron_variant PRAD-CA 18 19444058 19444058 single base substitution C T intron_variant PRAD-UK 18 19297039 19297039 single base substitution A G intron_variant PRAD-UK 18 19300239 19300239 single base substitution A G intron_variant PRAD-UK 18 19314552 19314552 single base substitution C G intron_variant PRAD-UK 18 19321885 19321885 single base substitution C G intron_variant PRAD-UK 18 19335832 19335832 single base substitution G C intron_variant PRAD-UK 18 19342051 19342051 insertion of <=200bp - T intron_variant PRAD-UK 18 19344722 19344722 insertion of <=200bp - A intron_variant PRAD-UK 18 19352960 19352960 single base substitution C T intron_variant PRAD-UK 18 19355313 19355313 single base substitution A G intron_variant PRAD-UK 18 19386312 19386312 single base substitution C T intron_variant PRAD-UK 18 19392651 19392651 single base substitution G T intron_variant PRAD-UK 18 19406532 19406532 single base substitution C T intron_variant PRAD-UK 18 19407290 19407290 single base substitution A T intron_variant PRAD-UK 18 19415669 19415669 single base substitution T C intron_variant PRAD-UK 18 19429561 19429561 single base substitution T C intron_variant PRAD-UK 18 19430621 19430621 single base substitution A G intron_variant PRAD-UK 18 19442514 19442514 single base substitution C A intron_variant PRAD-UK 18 19455623 19455623 single base substitution A G downstream_gene_variant PRAD-US 18 19395662 19395662 insertion of <=200bp - T exon_variant PRAD-US 18 19395662 19395662 insertion of <=200bp - T frameshift_variant D522V? READ-US 18 19348680 19348680 single base substitution A T exon_variant READ-US 18 19348680 19348680 single base substitution A T missense_variant E166D 498A>T READ-US 18 19378145 19378145 single base substitution C T exon_variant READ-US 18 19378145 19378145 single base substitution C T missense_variant S398F 1193C>T READ-US 18 19399480 19399480 single base substitution C A exon_variant READ-US 18 19399480 19399480 single base substitution C A missense_variant H568N 1702C>A READ-US 18 19429171 19429171 single base substitution C A exon_variant READ-US 18 19429171 19429171 single base substitution C A missense_variant S803Y 2408C>A READ-US 18 19444613 19444613 single base substitution A G exon_variant READ-US 18 19444613 19444613 single base substitution A G missense_variant I1003V 3007A>G RECA-EU 18 19291426 19291426 single base substitution G T intron_variant RECA-EU 18 19295765 19295765 single base substitution A T intron_variant RECA-EU 18 19319340 19319340 single base substitution A T intron_variant RECA-EU 18 19319340 19319340 single base substitution A T upstream_gene_variant RECA-EU 18 19319704 19319704 single base substitution A T intron_variant RECA-EU 18 19319704 19319704 single base substitution A T upstream_gene_variant RECA-EU 18 19321808 19321808 single base substitution G A intron_variant RECA-EU 18 19333961 19333961 single base substitution G A intron_variant RECA-EU 18 19378846 19378846 single base substitution A G intron_variant RECA-EU 18 19378846 19378846 single base substitution A G upstream_gene_variant RECA-EU 18 19384720 19384720 single base substitution G C intron_variant RECA-EU 18 19386342 19386342 single base substitution T A intron_variant RECA-EU 18 19410853 19410853 single base substitution C A intron_variant RECA-EU 18 19415797 19415797 single base substitution C A intron_variant RECA-EU 18 19418308 19418308 single base substitution T A intron_variant RECA-EU 18 19419850 19419850 single base substitution T G intron_variant RECA-EU 18 19419888 19419888 single base substitution C A intron_variant RECA-EU 18 19421065 19421065 single base substitution G A intron_variant RECA-EU 18 19423242 19423242 single base substitution C T intron_variant RECA-EU 18 19428570 19428570 single base substitution G A intron_variant RECA-EU 18 19440800 19440800 single base substitution A G intron_variant RECA-EU 18 19441288 19441288 single base substitution T C intron_variant RECA-EU 18 19442748 19442748 single base substitution A T intron_variant RECA-EU 18 19445679 19445679 single base substitution A T 3_prime_UTR_variant RECA-EU 18 19445679 19445679 single base substitution A T downstream_gene_variant SKCA-BR 18 19281173 19281173 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 18 19284328 19284328 single base substitution T G upstream_gene_variant SKCA-BR 18 19285055 19285055 single base substitution T G exon_variant SKCA-BR 18 19286374 19286374 single base substitution C T intron_variant SKCA-BR 18 19286596 19286596 single base substitution T C intron_variant SKCA-BR 18 19287258 19287258 single base substitution C T intron_variant SKCA-BR 18 19287629 19287629 single base substitution G A intron_variant SKCA-BR 18 19288104 19288104 single base substitution A G intron_variant SKCA-BR 18 19289269 19289269 insertion of <=200bp - ACT intron_variant SKCA-BR 18 19290788 19290788 insertion of <=200bp - AT intron_variant SKCA-BR 18 19301121 19301121 insertion of <=200bp - TTTG intron_variant SKCA-BR 18 19301122 19301122 insertion of <=200bp - TTG intron_variant SKCA-BR 18 19302068 19302068 single base substitution T A intron_variant SKCA-BR 18 19303699 19303699 single base substitution A C intron_variant SKCA-BR 18 19303869 19303869 single base substitution C T intron_variant SKCA-BR 18 19304686 19304686 insertion of <=200bp - AAT intron_variant SKCA-BR 18 19304690 19304690 single base substitution T A intron_variant SKCA-BR 18 19305746 19305750 deletion of <=200bp GGGAA - intron_variant SKCA-BR 18 19310809 19310809 single base substitution G A intron_variant SKCA-BR 18 19311469 19311469 single base substitution T G intron_variant SKCA-BR 18 19311600 19311600 single base substitution G A intron_variant SKCA-BR 18 19311787 19311787 single base substitution T G intron_variant SKCA-BR 18 19313667 19313667 single base substitution C T intron_variant SKCA-BR 18 19315726 19315726 single base substitution C T intron_variant SKCA-BR 18 19319695 19319695 single base substitution C T intron_variant SKCA-BR 18 19319695 19319695 single base substitution C T upstream_gene_variant SKCA-BR 18 19319967 19319967 single base substitution C A intron_variant SKCA-BR 18 19319967 19319967 single base substitution C A upstream_gene_variant SKCA-BR 18 19319968 19319968 single base substitution C T intron_variant SKCA-BR 18 19319968 19319968 single base substitution C T upstream_gene_variant SKCA-BR 18 19323334 19323334 single base substitution G C intron_variant SKCA-BR 18 19324510 19324510 single base substitution T A intron_variant SKCA-BR 18 19325636 19325636 insertion of <=200bp - AAC intron_variant SKCA-BR 18 19325759 19325759 single base substitution C T intron_variant SKCA-BR 18 19331470 19331470 single base substitution A C intron_variant SKCA-BR 18 19333731 19333731 single base substitution A G intron_variant SKCA-BR 18 19336296 19336296 single base substitution C T intron_variant SKCA-BR 18 19336754 19336754 single base substitution C T intron_variant SKCA-BR 18 19338154 19338154 single base substitution T G intron_variant SKCA-BR 18 19338654 19338654 single base substitution C T intron_variant SKCA-BR 18 19342837 19342837 single base substitution C T intron_variant SKCA-BR 18 19343022 19343022 single base substitution A T intron_variant SKCA-BR 18 19343033 19343033 insertion of <=200bp - GT intron_variant SKCA-BR 18 19347011 19347011 single base substitution T C intron_variant SKCA-BR 18 19349939 19349939 single base substitution T G intron_variant SKCA-BR 18 19350532 19350532 single base substitution C T intron_variant SKCA-BR 18 19355458 19355458 single base substitution C T intron_variant SKCA-BR 18 19360295 19360295 single base substitution C T intron_variant SKCA-BR 18 19367006 19367006 single base substitution G T intron_variant SKCA-BR 18 19367445 19367445 single base substitution G A intron_variant SKCA-BR 18 19368322 19368322 single base substitution A T intron_variant SKCA-BR 18 19375250 19375274 deletion of <=200bp ATATATATAATATATAAATATATAT - intron_variant SKCA-BR 18 19375250 19375274 deletion of <=200bp ATATATATAATATATAAATATATAT - upstream_gene_variant SKCA-BR 18 19375560 19375560 single base substitution T A intron_variant SKCA-BR 18 19375560 19375560 single base substitution T A upstream_gene_variant SKCA-BR 18 19383801 19383801 single base substitution C G exon_variant SKCA-BR 18 19383801 19383801 single base substitution C G intron_variant SKCA-BR 18 19390956 19390956 single base substitution T A intron_variant SKCA-BR 18 19413715 19413715 single base substitution A G intron_variant SKCA-BR 18 19415797 19415797 insertion of <=200bp - CACACAA intron_variant SKCA-BR 18 19415797 19415797 insertion of <=200bp - CACACACACACAA intron_variant SKCA-BR 18 19415797 19415797 insertion of <=200bp - CACACACACACACAA intron_variant SKCA-BR 18 19417247 19417247 single base substitution A G intron_variant SKCA-BR 18 19418875 19418875 single base substitution C T intron_variant SKCA-BR 18 19419551 19419551 single base substitution G T intron_variant SKCA-BR 18 19420159 19420159 single base substitution T C intron_variant SKCA-BR 18 19424633 19424633 single base substitution A C intron_variant SKCA-BR 18 19430431 19430431 single base substitution G A intron_variant SKCA-BR 18 19432779 19432779 single base substitution C T intron_variant SKCA-BR 18 19433971 19433972 deletion of <=200bp CT - intron_variant SKCA-BR 18 19436121 19436121 single base substitution G A intron_variant SKCA-BR 18 19442904 19442904 single base substitution C T intron_variant SKCA-BR 18 19448971 19448971 single base substitution C T 3_prime_UTR_variant SKCA-BR 18 19448971 19448971 single base substitution C T downstream_gene_variant SKCA-BR 18 19451732 19451732 single base substitution A G downstream_gene_variant SKCA-BR 18 19453238 19453238 single base substitution G A downstream_gene_variant SKCA-BR 18 19454344 19454344 single base substitution A G downstream_gene_variant SKCM-US 18 19282284 19282284 single base substitution C T upstream_gene_variant SKCM-US 18 19282424 19282424 single base substitution G A upstream_gene_variant SKCM-US 18 19345796 19345796 single base substitution G A exon_variant SKCM-US 18 19345796 19345796 single base substitution G A stop_gained W98* 293G>A SKCM-US 18 19353597 19353597 single base substitution C T exon_variant SKCM-US 18 19353597 19353597 single base substitution C T stop_gained Q182* 544C>T SKCM-US 18 19359527 19359527 single base substitution T C exon_variant SKCM-US 18 19359527 19359527 single base substitution T C synonymous_variant S263S 789T>C SKCM-US 18 19359612 19359612 single base substitution C T exon_variant SKCM-US 18 19359612 19359612 single base substitution C T missense_variant H292Y 874C>T SKCM-US 18 19399522 19399522 single base substitution C T downstream_gene_variant SKCM-US 18 19399522 19399522 single base substitution C T exon_variant SKCM-US 18 19399522 19399522 single base substitution C T missense_variant L582F 1744C>T SKCM-US 18 19424141 19424141 single base substitution C T exon_variant SKCM-US 18 19424141 19424141 single base substitution C T missense_variant S713F 2138C>T SKCM-US 18 19424197 19424197 single base substitution G A exon_variant SKCM-US 18 19424197 19424197 single base substitution G A missense_variant E732K 2194G>A SKCM-US 18 19429261 19429261 single base substitution C T exon_variant SKCM-US 18 19429261 19429261 single base substitution C T missense_variant P833L 2498C>T SKCM-US 18 19444569 19444569 single base substitution G C exon_variant SKCM-US 18 19444569 19444569 single base substitution G C missense_variant R988P 2963G>C STAD-US 18 19282375 19282375 single base substitution G A upstream_gene_variant STAD-US 18 19282376 19282376 single base substitution C T upstream_gene_variant STAD-US 18 19283615 19283615 single base substitution A G upstream_gene_variant STAD-US 18 19283682 19283682 single base substitution C T upstream_gene_variant STAD-US 18 19284546 19284546 single base substitution G T upstream_gene_variant STAD-US 18 19371466 19371466 single base substitution G A exon_variant STAD-US 18 19371466 19371466 single base substitution G A missense_variant R347Q 1040G>A STAD-US 18 19383901 19383901 single base substitution C T exon_variant STAD-US 18 19383901 19383901 single base substitution C T stop_gained Q469* 1405C>T STAD-US 18 19395628 19395628 single base substitution G A exon_variant STAD-US 18 19395628 19395628 single base substitution G A missense_variant A511T 1531G>A STAD-US 18 19418353 19418353 single base substitution A G exon_variant STAD-US 18 19418353 19418353 single base substitution A G synonymous_variant L619L 1857A>G STAD-US 18 19418419 19418419 single base substitution T G exon_variant STAD-US 18 19418419 19418419 single base substitution T G synonymous_variant L641L 1923T>G STAD-US 18 19427012 19427012 single base substitution T A exon_variant STAD-US 18 19427012 19427012 single base substitution T A synonymous_variant G773G 2319T>A STAD-US 18 19444574 19444574 single base substitution A T exon_variant STAD-US 18 19444574 19444574 single base substitution A T missense_variant S990C 2968A>T THCA-US 18 19378075 19378075 single base substitution A T exon_variant THCA-US 18 19378075 19378075 single base substitution A T missense_variant I375F 1123A>T UCEC-US 18 19345793 19345793 single base substitution G A exon_variant UCEC-US 18 19345793 19345793 single base substitution G A missense_variant R97Q 290G>A UCEC-US 18 19345880 19345880 single base substitution G A exon_variant UCEC-US 18 19345880 19345880 single base substitution G A missense_variant R126Q 377G>A UCEC-US 18 19399502 19399502 single base substitution G A exon_variant UCEC-US 18 19399502 19399502 single base substitution G A missense_variant R575H 1724G>A UCEC-US 18 19409028 19409028 single base substitution G T intron_variant UCEC-US 18 19424149 19424149 single base substitution C T exon_variant UCEC-US 18 19424149 19424149 single base substitution C T missense_variant R716C 2146C>T UCEC-US 18 19424189 19424189 single base substitution C T exon_variant UCEC-US 18 19424189 19424189 single base substitution C T missense_variant A729V 2186C>T UCEC-US 18 19429183 19429183 single base substitution C A exon_variant UCEC-US 18 19429183 19429183 single base substitution C A missense_variant S807Y 2420C>A UCEC-US 18 19429276 19429276 single base substitution C T exon_variant UCEC-US 18 19429276 19429276 single base substitution C T missense_variant A838V 2513C>T UCEC-US 18 19429299 19429299 single base substitution C T exon_variant UCEC-US 18 19429299 19429299 single base substitution C T missense_variant R846C 2536C>T UCEC-US 18 19437119 19437119 single base substitution G A exon_variant UCEC-US 18 19437119 19437119 single base substitution G A synonymous_variant V898V 2694G>A UCEC-US 18 19438604 19438604 single base substitution G A exon_variant UCEC-US 18 19438604 19438604 single base substitution G A synonymous_variant E959E 2877G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PTC-7C COSM4130931 c.461G>T p.G154V Substitution - Missense 18:21768682-21768682 + HCC058T COSM5804797 c.1958A>T p.H653L Substitution - Missense 18:21838493-21838493 + TCGA-D7-5577-01 COSM4071456 c.1405C>T p.Q469* Substitution - Nonsense 18:21803940-21803940 + sysucc-1163T COSM5458671 c.1768A>C p.T590P Substitution - Missense 18:21819585-21819585 + DLBCL694 COSM1581225 c.1552C>T p.R518* Substitution - Nonsense 18:21815688-21815688 + Pat_40_A COSM5809850 c.2503G>A p.G835R Substitution - Missense 18:21849305-21849305 + TCGA-16-0846-01 COSM3403458 c.1589G>A p.R530Q Substitution - Missense 18:21815725-21815725 + TCGA-18-5595-01 COSM708338 c.1257G>A p.L419L Substitution - coding silent 18:21799860-21799860 + 234 COSM3730718 c.703+8_703+10delAGA p.? Unknown 18:21778177-21778179 + SNU-C4 COSM4652962 c.2790T>C p.N930N Substitution - coding silent 18:21858556-21858556 + Esp66 COSM1742615 c.1996C>A p.Q666K Substitution - Missense 18:21843164-21843164 + PT37 COSM5921354 c.761T>G p.I254R Substitution - Missense 18:21779538-21779538 + TCGA-EI-6917-01 COSM3422082 c.1193C>T p.S398F Substitution - Missense 18:21798184-21798184 + TCGA-D3-A51T-06 COSM1522554 c.544C>T p.Q182* Substitution - Nonsense 18:21773636-21773636 + Pat_40_B COSM5809850 c.2503G>A p.G835R Substitution - Missense 18:21849305-21849305 + TCGA-CF-A27C-01 COSM1303605 c.234C>T p.I78I Substitution - coding silent 18:21765776-21765776 + CHC892T COSM4795292 c.2151G>A p.Q717Q Substitution - coding silent 18:21844193-21844193 + ESCC_BICR_055T COSM5436656 c.2773G>A p.D925N Substitution - Missense 18:21857237-21857237 + TCGA-AP-A0LM-01 COSM986957 c.2536C>T p.R846C Substitution - Missense 18:21849338-21849338 + RK010_C COSM1630529 c.704-4A>T p.? Unknown 18:21779477-21779477 + CHEWS024 COSM4580332 c.898A>G p.S300G Substitution - Missense 18:21779675-21779675 + YUKAT COSM5387852 c.1962G>A p.Q654Q Substitution - coding silent 18:21838497-21838497 + ESO-1427 COSM1257694 c.992C>A p.S331* Substitution - Nonsense 18:21791457-21791457 + 438 COSM4434282 c.46G>C p.A16P Substitution - Missense 18:21741629-21741629 + BD236T COSM2885023 c.1530C>T p.G510G Substitution - coding silent 18:21815666-21815666 + TCGA-B6-A0I2-01 COSM437970 c.2305C>T p.R769* Substitution - Nonsense 18:21847037-21847037 + SJBALL021507_D1 COSM4994146 c.1039C>T p.R347* Substitution - Nonsense 18:21791504-21791504 + TCGA-B2-5641-01 COSM473670 c.2530T>C p.S844P Substitution - Missense 18:21849332-21849332 + TCGA-AP-A0LM-01 COSM986958 c.2694G>A p.V898V Substitution - coding silent 18:21857158-21857158 + DLD1 COSM4623739 c.2390T>C p.V797A Substitution - Missense 18:21847122-21847122 + TCGA-04-1331-01 COSM1324675 c.532-2_536delAGGTAAC p.? Unknown 18:21773622-21773628 + 587332 COSM1215062 c.2767A>G p.T923A Substitution - Missense 18:21857231-21857231 + TCGA-B0-4700-01 COSM473669 c.2044G>C p.V682L Substitution - Missense 18:21843212-21843212 + CHC1148T COSM4954822 c.2940A>G p.G980G Substitution - coding silent 18:21864585-21864585 + TCGA-06-0155 COSM2149975 c.277A>G p.I93V Substitution - Missense 18:21765819-21765819 + T2269 COSM4702092 c.769G>A p.D257N Substitution - Missense 18:21779546-21779546 + CSCC-18-T COSM4537118 c.2382G>A p.K794K Substitution - coding silent 18:21847114-21847114 + CHC892T COSM4959025 c.109G>A p.G37S Substitution - Missense 18:21741692-21741692 + TCGA-BR-7196-01 COSM4071460 c.2968A>T p.S990C Substitution - Missense 18:21864613-21864613 + TCGA-FE-A22Z-01 COSM3371010 c.1123A>T p.I375F Substitution - Missense 18:21798114-21798114 + OSCC-GB_00810111 COSM4891244 c.2697G>A p.Q899Q Substitution - coding silent 18:21857161-21857161 + CHC892T COSM4795292 c.2151G>A p.Q717Q Substitution - coding silent 18:21844193-21844193 + 61 COSM5741226 c.1585C>T p.R529C Substitution - Missense 18:21815721-21815721 + CHC892T COSM4959025 c.109G>A p.G37S Substitution - Missense 18:21741692-21741692 + HCC059T COSM5809850 c.2503G>A p.G835R Substitution - Missense 18:21849305-21849305 + TCGA-B5-A0JY-01 COSM986951 c.377G>A p.R126Q Substitution - Missense 18:21765919-21765919 + ESCC_107 COSM5638479 c.927T>A p.A309A Substitution - coding silent 18:21791392-21791392 + RK014_C01 COSM1630528 c.557C>T p.A186V Substitution - Missense 18:21773649-21773649 + XHDG17 COSM4768713 c.2406T>C p.G802G Substitution - coding silent 18:21849208-21849208 + TCGA-D5-6540-01 COSM1387967 c.123C>A p.S41R Substitution - Missense 18:21741706-21741706 + 2_PRE-TREATMENT COSM1722246 c.2730C>T p.F910F Substitution - coding silent 18:21857194-21857194 + TCGA-BR-8680-01 COSM4071455 c.1040G>A p.R347Q Substitution - Missense 18:21791505-21791505 + 393 COSM4428429 c.1354A>G p.K452E Substitution - Missense 18:21799957-21799957 + TCGA-04-1331-01 COSM69173 c.532-2_536delAGGTAAC p.? Unknown TCGA-AX-A05Z-01 COSM986953 c.2146C>T p.R716C Substitution - Missense 18:21844188-21844188 + TCGA-ER-A19F-06 COSM3524392 c.1744C>T p.L582F Substitution - Missense 18:21819561-21819561 + RK006_C01 COSM1630527 c.377G>T p.R126L Substitution - Missense 18:21765919-21765919 + TCGA-D3-A1Q9-06 COSM3524396 c.2963G>C p.R988P Substitution - Missense 18:21864608-21864608 + TCGA-AX-A05Z-01 COSM986952 c.1724G>A p.R575H Substitution - Missense 18:21819541-21819541 + TCGA-AC-A23H-01 COSM3821222 c.617G>A p.R206K Substitution - Missense 18:21773709-21773709 + PT37 COSM5921355 c.1825C>T p.P609S Substitution - Missense 18:21819642-21819642 + TCGA-19-5953-01 COSM3403457 c.670G>A p.G224S Substitution - Missense 18:21778136-21778136 + TCGA-BK-A0C9-01 COSM986956 c.2513C>T p.A838V Substitution - Missense 18:21849315-21849315 + TCGA-D5-6928-01 COSM1387968 c.574G>A p.A192T Substitution - Missense 18:21773666-21773666 + TCGA-26-1442-01 COSM3403456 c.109G>C p.G37R Substitution - Missense 18:21741692-21741692 + LUAD-B01102 COSM405245 c.1563_1564delTG p.D522fs*18 Deletion - Frameshift 18:21815699-21815700 + CSCC-59-T COSM4469910 c.1627C>G p.L543V Substitution - Missense 18:21815763-21815763 + TCGA-AP-A059-01 COSM986955 c.2420C>A p.S807Y Substitution - Missense 18:21849222-21849222 + PT13 COSM5896349 c.2801T>C p.L934S Substitution - Missense 18:21858567-21858567 + 2_RESISTANT COSM1722246 c.2730C>T p.F910F Substitution - coding silent 18:21857194-21857194 + sysucc-311T COSM176503 c.775G>A p.E259K Substitution - Missense 18:21779552-21779552 + LC_S19 COSM1189653 c.2038C>T p.Q680* Substitution - Nonsense 18:21843206-21843206 + TCGA-06-0155-01 COSM2149975 c.277A>G p.I93V Substitution - Missense 18:21765819-21765819 + TCGA-B5-A0JY-01 COSM986950 c.290G>A p.R97Q Substitution - Missense 18:21765832-21765832 + TCGA-AA-3492-01 COSM1387973 c.2069C>T p.A690V Substitution - Missense 18:21844111-21844111 + TCGA-CF-A27C-01 COSM1303606 c.238C>G p.H80D Substitution - Missense 18:21765780-21765780 + TCGA-AR-A1AJ-01 COSM437969 c.923C>T p.P308L Substitution - Missense 18:21791388-21791388 + PD11750a COSM5786525 c.2779+10T>G p.? Unknown 18:21857253-21857253 + LUAD-RT-S01487 COSM377891 c.2073G>T p.K691N Substitution - Missense 18:21844115-21844115 + pfg008T COSM1640935 c.1315G>A p.A439T Substitution - Missense 18:21799918-21799918 + ESO-167 COSM1257695 c.2836G>C p.D946H Substitution - Missense 18:21858602-21858602 + 50T COSM3712616 c.1492G>T p.D498Y Substitution - Missense 18:21815628-21815628 + HX20T COSM3717838 c.2097G>A p.G699G Substitution - coding silent 18:21844139-21844139 + 2334202 COSM321687 c.1038A>C p.E346D Substitution - Missense 18:21791503-21791503 + RK006_C1 COSM1630527 c.377G>T p.R126L Substitution - Missense 18:21765919-21765919 + TCGA-EB-A4IS-01 COSM3524389 c.293G>A p.W98* Substitution - Nonsense 18:21765835-21765835 + 8036140 COSM3388388 c.2920A>T p.I974F Substitution - Missense 18:21864565-21864565 + ESCC_133 COSM5642519 c.406C>G p.L136V Substitution - Missense 18:21768627-21768627 + CSCC-37-T COSM4537169 c.2389G>A p.V797I Substitution - Missense 18:21847121-21847121 + TCGA-BT-A3PJ-01 COSM3796305 c.97G>A p.E33K Substitution - Missense 18:21741680-21741680 + CHC1148T COSM4954822 c.2940A>G p.G980G Substitution - coding silent 18:21864585-21864585 + CSCC-56-T COSM4526780 c.1419G>A p.Q473Q Substitution - coding silent 18:21803954-21803954 + TCGA-EI-6917-01 COSM3422083 c.1702C>A p.H568N Substitution - Missense 18:21819519-21819519 + TCGA-A8-A0A6-01 COSM3821223 c.975T>G p.G325G Substitution - coding silent 18:21791440-21791440 + TCGA-IR-A3LK-01 COSM4817602 c.877G>A p.D293N Substitution - Missense 18:21779654-21779654 + B96 COSM1750465 c.155G>A p.W52* Substitution - Nonsense 18:21741738-21741738 + DLBCL1020 COSM1581228 c.3015G>T p.L1005F Substitution - Missense 18:21864660-21864660 + DLBCL890 COSM1581227 c.2427T>G p.I809M Substitution - Missense 18:21849229-21849229 + TCGA-AZ-4315-01 COSM176503 c.775G>A p.E259K Substitution - Missense 18:21779552-21779552 + ATL074 COSM5706699 c.2245A>T p.K749* Substitution - Nonsense 18:21846977-21846977 + 8044460 COSM3388387 c.237G>A p.K79K Substitution - coding silent 18:21765779-21765779 + TCGA-CG-5721-01 COSM4071457 c.1857A>G p.L619L Substitution - coding silent 18:21838392-21838392 + TCGA-EW-A3E8-01 COSM3821225 c.2827G>A p.V943I Substitution - Missense 18:21858593-21858593 + BN40 COSM1611100 c.1009G>T p.D337Y Substitution - Missense 18:21791474-21791474 + TCGA-D1-A0ZO-01 COSM986954 c.2186C>T p.A729V Substitution - Missense 18:21844228-21844228 + TCGA-AG-3883-01 COSM288505 c.2434G>T p.D812Y Substitution - Missense 18:21849236-21849236 + RK086_C01 COSM1630530 c.1702C>T p.H568Y Substitution - Missense 18:21819519-21819519 + RK010_C01 COSM1630529 c.704-4A>T p.? Unknown 18:21779477-21779477 + 343 COSM1742217 c.1576C>T p.R526* Substitution - Nonsense 18:21815712-21815712 + BD124T COSM5493692 c.2455T>C p.C819R Substitution - Missense 18:21849257-21849257 + TCGA-F5-6814-01 COSM3422084 c.2408C>A p.S803Y Substitution - Missense 18:21849210-21849210 + LC_S25 COSM1189652 c.1720A>G p.K574E Substitution - Missense 18:21819537-21819537 + 46M COSM5588288 c.2482G>C p.D828H Substitution - Missense 18:21849284-21849284 + TCGA-BS-A0UF-01 COSM986950 c.290G>A p.R97Q Substitution - Missense 18:21765832-21765832 + sysucc-1028T COSM5468963 c.1726G>T p.D576Y Substitution - Missense 18:21819543-21819543 + pfg008T COSM1640935 c.1315G>A p.A439T Substitution - Missense 18:21799918-21799918 + BN40T COSM1611100 c.1009G>T p.D337Y Substitution - Missense 18:21791474-21791474 + TCGA-59-2352-01 COSM117041 c.151G>C p.V51L Substitution - Missense 18:21741734-21741734 + C086 COSM5534548 c.340C>T p.H114Y Substitution - Missense 18:21765882-21765882 + ESO-0292 COSM1241431 c.2898T>C p.C966C Substitution - coding silent 18:21864543-21864543 + TCGA-25-1329-01 COSM71642 c.1567T>G p.L523V Substitution - Missense 18:21815703-21815703 + TCGA-AG-3731-01 COSM1564093 c.498A>T p.E166D Substitution - Missense 18:21768719-21768719 + HCC049T COSM5812079 c.625T>C p.F209L Substitution - Missense 18:21773717-21773717 + SC_9028 COSM5550322 c.193G>C p.A65P Substitution - Missense 18:21741776-21741776 + TCGA-22-4613-01 COSM708337 c.2129A>T p.H710L Substitution - Missense 18:21844171-21844171 + CCRF-CEM COSM1680262 c.266G>A p.R89H Substitution - Missense 18:21765808-21765808 + 587220 COSM1215061 c.385A>G p.T129A Substitution - Missense 18:21765927-21765927 + TCGA-EE-A2GH-06 COSM3524391 c.874C>T p.H292Y Substitution - Missense 18:21779651-21779651 + OSCC-GB_00500111 COSM3712616 c.1492G>T p.D498Y Substitution - Missense 18:21815628-21815628 + TCGA-AO-A0JE-01 COSM437968 c.467G>C p.R156T Substitution - Missense 18:21768688-21768688 + PDA_013 COSM2885036 c.2702G>A p.R901Q Substitution - Missense 18:21857166-21857166 + A549 COSM1193367 c.1857A>T p.L619F Substitution - Missense 18:21838392-21838392 + TCGA-CG-5726-01 COSM2885024 c.1531G>A p.A511T Substitution - Missense 18:21815667-21815667 + J74_T COSM3959065 c.2421T>G p.S807S Substitution - coding silent 18:21849223-21849223 + TCGA-BR-A4QM-01 COSM4071459 c.2319T>A p.G773G Substitution - coding silent 18:21847051-21847051 + ESO-107 COSM1257693 c.2194G>T p.E732* Substitution - Nonsense 18:21844236-21844236 + TCGA-AC-A23H-01 COSM3821224 c.2119C>G p.L707V Substitution - Missense 18:21844161-21844161 + C608 COSM4442804 c.1879G>A p.E627K Substitution - Missense 18:21838414-21838414 + TCGA-BR-4267-01 COSM4071458 c.1923T>G p.L641L Substitution - coding silent 18:21838458-21838458 + HCT15 COSM1680263 c.982G>T p.G328* Substitution - Nonsense 18:21791447-21791447 + QC2-05-T2 COSM5651981 c.1264T>G p.L422V Substitution - Missense 18:21799867-21799867 + A549 COSM1193367 c.1857A>T p.L619F Substitution - Missense 18:21838392-21838392 + YUKAT COSM5387854 c.2794C>G p.P932A Substitution - Missense 18:21858560-21858560 + TCGA-24-1424-01 COSM75415 c.2449G>C p.E817Q Substitution - Missense 18:21849251-21849251 + TCGA-CK-5916-01 COSM78089 c.1112G>A p.R371Q Substitution - Missense 18:21798103-21798103 + TCGA-EI-6882-01 COSM3422085 c.3007A>G p.I1003V Substitution - Missense 18:21864652-21864652 + S00944 COSM312866 c.2010A>G p.L670L Substitution - coding silent 18:21843178-21843178 + BRC39 COSM1581225 c.1552C>T p.R518* Substitution - Nonsense 18:21815688-21815688 + P-Thy051 COSM5095529 c.26T>G p.V9G Substitution - Missense 18:21741609-21741609 + 134417 COSM325811 c.1033C>G p.L345V Substitution - Missense 18:21791498-21791498 + HCC87T COSM1611101 c.2147G>A p.R716H Substitution - Missense 18:21844189-21844189 + 1287_T COSM3959064 c.2317G>T p.G773C Substitution - Missense 18:21847049-21847049 + TCGA-A6-6138-01 COSM1387972 c.1386T>C p.C462C Substitution - coding silent 18:21803921-21803921 + TCGA-CM-4743-01 COSM1387974 c.2325G>A p.S775S Substitution - coding silent 18:21847057-21847057 + B96-Tumor COSM1750465 c.155G>A p.W52* Substitution - Nonsense 18:21741738-21741738 + S00944 COSM312866 c.2010A>G p.L670L Substitution - coding silent 18:21843178-21843178 + TCGA-AO-A124-01 COSM437971 c.2811C>G p.D937E Substitution - Missense 18:21858577-21858577 + HT COSM1581226 c.1933G>A p.V645I Substitution - Missense 18:21838468-21838468 + TCGA-13-0889-01 COSM78089 c.1112G>A p.R371Q Substitution - Missense 18:21798103-21798103 + TCGA-DA-A3F3-06 COSM3524390 c.789T>C p.S263S Substitution - coding silent 18:21779566-21779566 + LUAD-B01102 COSM391088 c.1564delG p.D522fs*2 Deletion - Frameshift 18:21815700-21815700 + TCGA-DK-A2I6-01 COSM1303607 c.848G>C p.G283A Substitution - Missense 18:21779625-21779625 + BK0095 COSM4188915 c.745G>T p.G249C Substitution - Missense 18:21779522-21779522 + TCGA-UB-A7MB-01 COSM4930689 c.287T>A p.I96N Substitution - Missense 18:21765829-21765829 + YUKAT COSM5387853 c.2792T>A p.I931N Substitution - Missense 18:21858558-21858558 + I2L-P27-Tumor-Organoid COSM5364620 c.835T>G p.L279V Substitution - Missense 18:21779612-21779612 + PD11358a COSM5786251 c.2188G>T p.A730S Substitution - Missense 18:21844230-21844230 + HCT-15 COSM1680263 c.982G>T p.G328* Substitution - Nonsense 18:21791447-21791447 + DLD1 COSM1680263 c.982G>T p.G328* Substitution - Nonsense 18:21791447-21791447 + P147 COSM1737233 c.1451T>G p.L484W Substitution - Missense 18:21803986-21803986 + CHC892T COSM4959523 c.1464G>A p.V488V Substitution - coding silent 18:21803999-21803999 + CSCC-55-T COSM4565039 c.1678-1_1678GG>AA p.? Unknown 18:21819494-21819495 + TCGA-EB-A24D-01 COSM3524393 c.2138C>T p.S713F Substitution - Missense 18:21844180-21844180 + I2L-P19Ta-Tumor-Organoid COSM5364567 c.1968T>C p.N656N Substitution - coding silent 18:21843136-21843136 + TCGA-EE-A2MS-06 COSM3524395 c.2498C>T p.P833L Substitution - Missense 18:21849300-21849300 + OSCC-GB_00740111 COSM4890820 c.237G>T p.K79N Substitution - Missense 18:21765779-21765779 + TCGA-FS-A1ZA-06 COSM3524394 c.2194G>A p.E732K Substitution - Missense 18:21844236-21844236 + TCGA-AX-A0J1-01 COSM986959 c.2877G>A p.E959E Substitution - coding silent 18:21858643-21858643 + HCC87 COSM1611101 c.2147G>A p.R716H Substitution - Missense 18:21844189-21844189 + TCGA-HE-7130-01 COSM3989485 c.1729G>A p.D577N Substitution - Missense 18:21819546-21819546 + SNU-175 COSM2885012 c.801T>G p.G267G Substitution - coding silent 18:21779578-21779578 + Pat_63_A COSM5853960 c.2324C>T p.S775L Substitution - Missense 18:21847056-21847056 + TCGA-DK-A3WW-01 COSM3796307 c.2344G>A p.D782N Substitution - Missense 18:21847076-21847076 + CSB13 COSM5028415 c.419G>A p.R140H Substitution - Missense 18:21768640-21768640 + 1N64-VS-1T64 COSM563097 c.289C>T p.R97* Substitution - Nonsense 18:21765831-21765831 + 435 COSM4433829 c.920A>G p.N307S Substitution - Missense 18:21791385-21791385 + TCGA-66-2800-01 COSM708339 c.259A>T p.T87S Substitution - Missense 18:21765801-21765801 + SNU-C4 COSM4652961 c.1648T>G p.L550V Substitution - Missense 18:21815784-21815784 + LUAD-B02077 COSM335071 c.403G>T p.V135F Substitution - Missense 18:21768624-21768624 + LUAD-LC15C COSM341767 c.1807G>A p.A603T Substitution - Missense 18:21819624-21819624 + TCGA-EA-A43B-01 COSM4442804 c.1879G>A p.E627K Substitution - Missense 18:21838414-21838414 + CHC892T COSM4959523 c.1464G>A p.V488V Substitution - coding silent 18:21803999-21803999 + 49M COSM5591854 c.2488C>T p.L830F Substitution - Missense 18:21849290-21849290 + YUDAB COSM1711016 c.2857C>T p.Q953* Substitution - Nonsense 18:21858623-21858623 + TCGA-BT-A3PK-01 COSM3796306 c.177C>T p.N59N Substitution - coding silent 18:21741760-21741760 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.140841;Hs.140903 18q11.2 608677 Hs.658791;Hs.658793;Hs.658794;Hs.658795;Hs.658796;Hs.658797;Hs.658798;Hs.658799;Hs.658800;Hs.658801;Hs.658802;Hs.658803;Hs.658804;Hs.658805;Hs.658806;Hs.658807;Hs.658808 18q11.2 608677

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E346D c.1038A>C 18 19371464 SCLC A G 3-UTRSNV . c.3018+275A>G 18 19444899 DLBCL AGGTAAC - SpliceAcceptorDeletion . c.532_538delGTAACAG 18 19353583 OV A G Missense p.I93V c.277A>G 18 19345780 GBM A G Synonymous p.L670L c.2010A>G 18 19423139 SCLC A T Missense p.H710L c.2129A>T 18 19424132 LUSC A T Missense p.I375F c.1123A>T 18 19378075 THCA A T Missense p.Q695L c.2084A>T 18 19424087 HNSC A T Missense p.T87S c.259A>T 18 19345762 LUSC C A Nonsense p.S331* c.992C>A 18 19371418 ESCA C G Missense p.D937E c.2811C>G 18 19438538 BRCA C G Missense p.H80D c.238C>G 18 19345741 BLCA C G Missense p.L345V c.1033C>G 18 19371459 SCLC C G Nonsense p.S823* c.2468C>G 18 19429231 HNSC C T IntronicSNV . c.2665+1660C>T 18 19434839 CM C T Missense p.A729V c.2186C>T 18 19424189 UCEC C T Missense p.A838V c.2513C>T 18 19429276 UCEC C T Missense p.H292Y c.874C>T 18 19359612 CM C T Missense p.H568Y c.1702C>T 18 19399480 HC C T Missense p.L582F c.1744C>T 18 19399522 CM C T Missense p.P308L c.923C>T 18 19371349 BRCA C T Missense p.P833L c.2498C>T 18 19429261 CM C T Missense p.S713F c.2138C>T 18 19424141 CM C T Nonsense p.Q182* c.544C>T 18 19353597 CM C T Nonsense p.Q469* c.1405C>T 18 19383901 STAD C T Nonsense p.Q719* c.2155C>T 18 19424158 CM C T Nonsense p.R518* c.1552C>T 18 19395649 BRCA C T Nonsense p.R769* c.2305C>T 18 19426998 BRCA C T Nonsense p.R97* c.289C>T 18 19345792 LUAD C T Synonymous p.I78I c.234C>T 18 19345737 BLCA C T Synonymous p.L785L c.2355C>T 18 19427048 HNSC C T Synonymous p.N59N c.177C>T 18 19321721 BLCA G A 3-UTRSNV . c.3018+4989G>A 18 19449613 ALL G A Missense p.A439T c.1315G>A 18 19379879 STAD G A Missense p.A511T c.1531G>A 18 19395628 STAD G A Missense p.E33K c.97G>A 18 19321641 BLCA G A Missense p.E732K c.2194G>A 18 19424197 CM G A Missense p.G224S c.670G>A 18 19358097 GBM G A Missense p.G239D c.716G>A 18 19359454 LUAD G A Missense p.G269R c.805G>A 18 19359543 STAD G A Missense p.R140H c.419G>A 18 19348601 BRCA G A Missense p.R371Q c.1112G>A 18 19378064 OV G A Missense p.R530Q c.1589G>A 18 19395686 GBM G A Synonymous p.L419L c.1257G>A 18 19379821 LUSC G C 3-UTRSNV . c.3018+8G>C 18 19444632 NSCLC G C Missense p.D812H c.2434G>C 18 19429197 HNSC G C Missense p.D946H c.2836G>C 18 19438563 ESCA G C Missense p.D956H c.2866G>C 18 19438593 LUAD G C Missense p.E817Q c.2449G>C 18 19429212 OV G C Missense p.G283A c.848G>C 18 19359586 BLCA G C Missense p.G37R c.109G>C 18 19321653 GBM G C Missense p.R156T c.467G>C 18 19348649 BRCA G C Missense p.R988P c.2963G>C 18 19444569 CM G C Missense p.V436L c.1306G>C 18 19379870 HNSC G C Missense p.V51L c.151G>C 18 19321695 OV G T IntronicSNV . c.1830-9298G>T 18 19409028 UCEC G T Missense p.D631Y c.1891G>T 18 19418387 HNSC G T Missense p.D812Y c.2434G>T 18 19429197 COREAD G T Missense p.R126L c.377G>T 18 19345880 HC G T Missense p.R716L c.2147G>T 18 19424150 LUAD G T Nonsense p.E732* c.2194G>T 18 19424197 ESCA T A Synonymous p.V477V c.1431T>A 18 19383927 CM T C 3-UTRSNV . c.3018+5331T>C 18 19449955 MB T C Synonymous p.L246L c.736T>C 18 19359474 LGG T C Synonymous p.S263S c.789T>C 18 19359527 CM T G Missense p.L523V c.1567T>G 18 19395664 OV T G Synonymous p.L641L c.1923T>G 18 19418419 STAD T - IntronicDeletion . c.1093-8delT 18 19378031 STAD