Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 12 121868110 121868110 + Missense_Mutation SNP A A G TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr12:121868110A>G c.3992T>C c.(3991-3993)cTc>cCc p.L1331P ACC 12 121882310 121882310 + Missense_Mutation SNP G G C TCGA-OR-A5J8-01A-11D-A29I-10 TCGA-OR-A5J8-10A-01D-A29L-10 g.chr12:121882310G>C c.2133C>G c.(2131-2133)gaC>gaG p.D711E BLCA 12 121867944 121867944 + 3'UTR SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 g.chr12:121867944G>A BLCA 12 121868273 121868273 + Splice_Site SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr12:121868273C>T c.e23-1 BLCA 12 121878649 121878649 + Missense_Mutation SNP G G T TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 g.chr12:121878649G>T c.3580C>A c.(3580-3582)Ctc>Atc p.L1194I BLCA 12 121878735 121878735 + Missense_Mutation SNP G G A TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr12:121878735G>A c.3494C>T c.(3493-3495)tCg>tTg p.S1165L BLCA 12 121880471 121880471 + Missense_Mutation SNP C C T TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr12:121880471C>T c.2773G>A c.(2773-2775)Gag>Aag p.E925K BLCA 12 121880471 121880471 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 g.chr12:121880471C>T c.2773G>A c.(2773-2775)Gag>Aag p.E925K BLCA 12 121881584 121881584 + Missense_Mutation SNP G G C TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr12:121881584G>C c.2464C>G c.(2464-2466)Caa>Gaa p.Q822E BLCA 12 121882022 121882022 + Silent SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr12:121882022G>C c.2244C>G c.(2242-2244)ctC>ctG p.L748L BLCA 12 121882333 121882333 + Nonsense_Mutation SNP C C A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 g.chr12:121882333C>A c.2110G>T c.(2110-2112)Gag>Tag p.E704* BLCA 12 121883152 121883152 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr12:121883152C>G c.2029G>C c.(2029-2031)Gag>Cag p.E677Q BLCA 12 121932456 121932456 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 g.chr12:121932456C>G c.1660G>C c.(1660-1662)Gag>Cag p.E554Q BLCA 12 121947735 121947735 + Nonsense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 g.chr12:121947735C>A c.1282G>T c.(1282-1284)Gag>Tag p.E428* BLCA 12 121972449 121972449 + Missense_Mutation SNP C C T TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr12:121972449C>T c.730G>A c.(730-732)Gac>Aac p.D244N BLCA 12 122018741 122018741 + Missense_Mutation SNP T T C TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr12:122018741T>C c.76A>G c.(76-78)Aag>Gag p.K26E BLCA 12 122018804 122018804 + Missense_Mutation SNP G G C TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 g.chr12:122018804G>C c.13C>G c.(13-15)Caa>Gaa p.Q5E BRCA 12 121868126 121868126 + Missense_Mutation SNP G G T TCGA-E9-A3QA-01A-61D-A228-09 TCGA-E9-A3QA-10A-01D-A22A-09 g.chr12:121868126G>T c.3976C>A c.(3976-3978)Caa>Aaa p.Q1326K BRCA 12 121878692 121878692 + Frame_Shift_Del DEL A A - TCGA-BH-A0HY-01A-11W-A071-09 TCGA-BH-A0HY-10A-02W-A071-09 g.chr12:121878692delA c.3537delT c.(3535-3537)gatfs p.D1179fs BRCA 12 121878877 121878877 + Silent SNP C C A TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 g.chr12:121878877C>A c.3444G>T c.(3442-3444)ctG>ctT p.L1148L BRCA 12 121878934 121878934 + Silent SNP G G T TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 g.chr12:121878934G>T c.3387C>A c.(3385-3387)ctC>ctA p.L1129L BRCA 12 121880585 121880585 + Missense_Mutation SNP G G A TCGA-A2-A0YG-01A-21D-A10G-09 TCGA-A2-A0YG-10A-01D-A10G-09 g.chr12:121880585G>A c.2659C>T c.(2659-2661)Cgg>Tgg p.R887W BRCA 12 121947738 121947738 + Missense_Mutation SNP C C T TCGA-AC-A3TN-01A-11D-A228-09 TCGA-AC-A3TN-10A-01D-A22A-09 g.chr12:121947738C>T c.1279G>A c.(1279-1281)Gag>Aag p.E427K BRCA 12 121986850 121986850 + Silent SNP C C T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 g.chr12:121986850C>T c.615G>A c.(613-615)caG>caA p.Q205Q BRCA 12 122017957 122017957 + Intron DEL T T - TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr12:122017957delT CESC 12 121868153 121868153 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 g.chr12:121868153C>T c.3949G>A c.(3949-3951)Gag>Aag p.E1317K CESC 12 121880220 121880220 + Silent SNP C C T TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 g.chr12:121880220C>T c.3024G>A c.(3022-3024)ctG>ctA p.L1008L CESC 12 121880462 121880462 + Missense_Mutation SNP C C T TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 g.chr12:121880462C>T c.2782G>A c.(2782-2784)Gag>Aag p.E928K CESC 12 121947490 121947490 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr12:121947490G>C c.1527C>G c.(1525-1527)ctC>ctG p.L509L CESC 12 121947753 121947753 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr12:121947753C>G c.1264G>C c.(1264-1266)Gag>Cag p.E422Q CHOL 12 121881589 121881589 + Missense_Mutation SNP G G A TCGA-3X-AAVB-01A-31D-A417-09 TCGA-3X-AAVB-10A-01D-A41A-09 g.chr12:121881589G>A c.2459C>T c.(2458-2460)tCg>tTg p.S820L COAD 12 121868242 121868242 + Missense_Mutation SNP G G A TCGA-CK-5915-01A-11D-1650-10 TCGA-CK-5915-10A-01D-1650-10 g.chr12:121868242G>A c.3860C>T c.(3859-3861)tCc>tTc p.S1287F COAD 12 121877797 121877797 + Missense_Mutation SNP C C T TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr12:121877797C>T c.3692G>A c.(3691-3693)cGg>cAg p.R1231Q COAD 12 121879990 121879991 + Frame_Shift_Del DEL CA CA - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr12:121879990_121879991delCA c.3253_3254delTG c.(3253-3255)tgcfs p.C1085fs COAD 12 121880098 121880098 + Missense_Mutation SNP C C A TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr12:121880098C>A c.3146G>T c.(3145-3147)aGc>aTc p.S1049I COAD 12 121880522 121880522 + Missense_Mutation SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:121880522C>T c.2722G>A c.(2722-2724)Gac>Aac p.D908N COAD 12 121881909 121881910 + Missense_Mutation DNP GG GG CT TCGA-AY-4070-01A-01W-1073-09 TCGA-AY-4070-10A-01W-1073-09 g.chr12:121881909_121881910GG>CT c.2356_2357CC>AG c.(2356-2358)CCg>AGg p.P786R COAD 12 121883118 121883118 + Missense_Mutation SNP C C G TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr12:121883118C>G c.2063G>C c.(2062-2064)tGc>tCc p.C688S COAD 12 121890985 121890985 + Missense_Mutation SNP T T C TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr12:121890985T>C c.1897A>G c.(1897-1899)Atg>Gtg p.M633V COAD 12 121947649 121947649 + Silent SNP G G T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr12:121947649G>T c.1368C>A c.(1366-1368)gcC>gcA p.A456A COAD 12 121970784 121970784 + Silent SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:121970784G>T c.858C>A c.(856-858)atC>atA p.I286I COAD 12 121986794 121986794 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr12:121986794G>A c.671C>T c.(670-672)cCg>cTg p.P224L COAD 12 121987468 121987468 + Missense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr12:121987468C>T c.473G>A c.(472-474)cGt>cAt p.R158H COAD 12 122013746 122013746 + Missense_Mutation SNP A A G TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr12:122013746A>G c.290T>C c.(289-291)gTa>gCa p.V97A COAD 12 122016705 122016705 + Splice_Site SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:122016705A>G c.e2+1 COAD 12 122016782 122016782 + Missense_Mutation SNP G G A TCGA-AA-3848-01A-01W-0900-09 TCGA-AA-3848-10A-01W-0900-09 g.chr12:122016782G>A c.196C>T c.(196-198)Cgc>Tgc p.R66C COAD 12 122017934 122017934 + Intron SNP T T C TCGA-AA-A02K-01A-21W-A096-10 TCGA-AA-A02K-10A-01W-A096-10 g.chr12:122017934T>C COAD 12 122017957 122017957 + Intron DEL T T - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr12:122017957delT COAD 12 122018729 122018732 + Frame_Shift_Del DEL TAAC TAAC - TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr12:122018729_122018732delTAAC c.85_88delGTTA c.(85-90)gttatafs p.VI29fs COAD 12 122018740 122018740 + Frame_Shift_Del DEL T T - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr12:122018740delT c.77delA c.(76-78)aagfs p.K27fs COAD 12 122018740 122018740 + Frame_Shift_Del DEL T T - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr12:122018740delT c.77delA c.(76-78)aagfs p.K27fs COAD 12 122018740 122018740 + Frame_Shift_Del DEL T T - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr12:122018740delT c.77delA c.(76-78)aagfs p.K27fs COAD 12 122018740 122018740 + Frame_Shift_Del DEL T T - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr12:122018740delT c.77delA c.(76-78)aagfs p.K27fs COAD 12 122018748 122018749 + Frame_Shift_Ins INS - - T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr12:122018748_122018749insT c.68_69insA c.(67-69)aagfs p.K23fs COAD 12 122018773 122018773 + Frame_Shift_Del DEL G G - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr12:122018773delG c.44delC c.(43-45)ccafs p.P15fs COADREAD 12 121868242 121868242 + Missense_Mutation SNP G G A TCGA-CK-5915-01A-11D-1650-10 TCGA-CK-5915-10A-01D-1650-10 g.chr12:121868242G>A c.3860C>T c.(3859-3861)tCc>tTc p.S1287F COADREAD 12 121877797 121877797 + Missense_Mutation SNP C C T TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr12:121877797C>T c.3692G>A c.(3691-3693)cGg>cAg p.R1231Q COADREAD 12 121879990 121879991 + Frame_Shift_Del DEL CA CA - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr12:121879990_121879991delCA c.3253_3254delTG c.(3253-3255)tgcfs p.C1085fs COADREAD 12 121880098 121880098 + Missense_Mutation SNP C C A TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr12:121880098C>A c.3146G>T c.(3145-3147)aGc>aTc p.S1049I COADREAD 12 121880495 121880495 + Missense_Mutation SNP C C T TCGA-DC-5869-01A-01D-1657-10 TCGA-DC-5869-10A-01D-1657-10 g.chr12:121880495C>T c.2749G>A c.(2749-2751)Gcg>Acg p.A917T COADREAD 12 121880522 121880522 + Missense_Mutation SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:121880522C>T c.2722G>A c.(2722-2724)Gac>Aac p.D908N COADREAD 12 121881589 121881589 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:121881589G>A c.2459C>T c.(2458-2460)tCg>tTg p.S820L COADREAD 12 121881909 121881910 + Missense_Mutation DNP GG GG CT TCGA-AY-4070-01A-01W-1073-09 TCGA-AY-4070-10A-01W-1073-09 g.chr12:121881909_121881910GG>CT c.2356_2357CC>AG c.(2356-2358)CCg>AGg p.P786R COADREAD 12 121883118 121883118 + Missense_Mutation SNP C C G TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr12:121883118C>G c.2063G>C c.(2062-2064)tGc>tCc p.C688S COADREAD 12 121890985 121890985 + Missense_Mutation SNP T T C TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr12:121890985T>C c.1897A>G c.(1897-1899)Atg>Gtg p.M633V COADREAD 12 121947649 121947649 + Silent SNP G G T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr12:121947649G>T c.1368C>A c.(1366-1368)gcC>gcA p.A456A COADREAD 12 121970784 121970784 + Silent SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:121970784G>T c.858C>A c.(856-858)atC>atA p.I286I COADREAD 12 121986794 121986794 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr12:121986794G>A c.671C>T c.(670-672)cCg>cTg p.P224L COADREAD 12 121987468 121987468 + Missense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr12:121987468C>T c.473G>A c.(472-474)cGt>cAt p.R158H COADREAD 12 122013746 122013746 + Missense_Mutation SNP A A G TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr12:122013746A>G c.290T>C c.(289-291)gTa>gCa p.V97A COADREAD 12 122016705 122016705 + Splice_Site SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:122016705A>G c.e2+1 COADREAD 12 122016782 122016782 + Missense_Mutation SNP G G A TCGA-AA-3848-01A-01W-0900-09 TCGA-AA-3848-10A-01W-0900-09 g.chr12:122016782G>A c.196C>T c.(196-198)Cgc>Tgc p.R66C COADREAD 12 122017934 122017934 + Intron SNP T T C TCGA-AA-A02K-01A-21W-A096-10 TCGA-AA-A02K-10A-01W-A096-10 g.chr12:122017934T>C COADREAD 12 122017957 122017957 + Intron DEL T T - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr12:122017957delT COADREAD 12 122018729 122018732 + Frame_Shift_Del DEL TAAC TAAC - TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr12:122018729_122018732delTAAC c.85_88delGTTA c.(85-90)gttatafs p.VI29fs COADREAD 12 122018740 122018740 + Frame_Shift_Del DEL T T - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr12:122018740delT c.77delA c.(76-78)aagfs p.K27fs COADREAD 12 122018740 122018740 + Frame_Shift_Del DEL T T - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr12:122018740delT c.77delA c.(76-78)aagfs p.K27fs COADREAD 12 122018740 122018740 + Frame_Shift_Del DEL T T - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr12:122018740delT c.77delA c.(76-78)aagfs p.K27fs COADREAD 12 122018740 122018740 + Frame_Shift_Del DEL T T - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr12:122018740delT c.77delA c.(76-78)aagfs p.K27fs COADREAD 12 122018748 122018749 + Frame_Shift_Ins INS - - T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr12:122018748_122018749insT c.68_69insA c.(67-69)aagfs p.K23fs COADREAD 12 122018773 122018773 + Frame_Shift_Del DEL G G - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr12:122018773delG c.44delC c.(43-45)ccafs p.P15fs DLBC 12 121877738 121877738 + Missense_Mutation SNP C C T TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr12:121877738C>T c.3751G>A c.(3751-3753)Gtc>Atc p.V1251I DLBC 12 121877739 121877739 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr12:121877739G>A c.3750C>T c.(3748-3750)caC>caT p.H1250H DLBC 12 121881588 121881588 + Silent SNP C C T TCGA-GS-A9TT-01A-11D-A382-10 TCGA-GS-A9TT-10A-01D-A385-10 g.chr12:121881588C>T c.2460G>A c.(2458-2460)tcG>tcA p.S820S DLBC 12 121882313 121882313 + Silent SNP G G A TCGA-FA-A4BB-01A-11D-A31X-10 TCGA-FA-A4BB-10A-01D-A31X-10 g.chr12:121882313G>A c.2130C>T c.(2128-2130)aaC>aaT p.N710N DLBC 12 121891060 121891060 + Missense_Mutation SNP G G A TCGA-GR-A4D6-01A-11D-A31X-10 TCGA-GR-A4D6-10A-01D-A31X-10 g.chr12:121891060G>A c.1822C>T c.(1822-1824)Cgg>Tgg p.R608W ESCA 12 121877875 121877875 + Missense_Mutation SNP T T A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 g.chr12:121877875T>A c.3614A>T c.(3613-3615)cAg>cTg p.Q1205L ESCA 12 121878953 121878953 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 g.chr12:121878953C>T c.3368G>A c.(3367-3369)cGg>cAg p.R1123Q ESCA 12 121891050 121891050 + Missense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 g.chr12:121891050G>A c.1832C>T c.(1831-1833)aCg>aTg p.T611M ESCA 12 121947744 121947744 + Missense_Mutation SNP T T C TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 g.chr12:121947744T>C c.1273A>G c.(1273-1275)Aag>Gag p.K425E ESCA 12 121951122 121951122 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 g.chr12:121951122G>T c.1131C>A c.(1129-1131)cgC>cgA p.R377R ESCA 12 121951164 121951164 + Nonsense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 g.chr12:121951164G>T c.1089C>A c.(1087-1089)tgC>tgA p.C363* GBM 12 121880300 121880300 + Missense_Mutation SNP C C T TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 g.chr12:121880300C>T c.2944G>A c.(2944-2946)Gag>Aag p.E982K GBM 12 121880495 121880495 + Missense_Mutation SNP C C T TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 g.chr12:121880495C>T c.2749G>A c.(2749-2751)Gcg>Acg p.A917T GBM 12 121890960 121890960 + Missense_Mutation SNP C C T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 g.chr12:121890960C>T c.1922G>A c.(1921-1923)cGc>cAc p.R641H GBMLGG 12 121877673 121877673 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:121877673C>A c.3816G>T c.(3814-3816)gaG>gaT p.E1272D GBMLGG 12 121880300 121880300 + Missense_Mutation SNP C C T TCGA-02-2486-01A-01D-1494-08 TCGA-02-2486-10A-01D-1494-08 g.chr12:121880300C>T c.2944G>A c.(2944-2946)Gag>Aag p.E982K GBMLGG 12 121880495 121880495 + Missense_Mutation SNP C C T TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 g.chr12:121880495C>T c.2749G>A c.(2749-2751)Gcg>Acg p.A917T GBMLGG 12 121882002 121882002 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:121882002C>T c.2264G>A c.(2263-2265)cGg>cAg p.R755Q GBMLGG 12 121890960 121890960 + Missense_Mutation SNP C C T TCGA-28-5208-01A-01D-1486-08 TCGA-28-5208-10A-01D-1486-08 g.chr12:121890960C>T c.1922G>A c.(1921-1923)cGc>cAc p.R641H GBMLGG 12 122012481 122012481 + Missense_Mutation SNP A A C TCGA-HT-8563-01A-11D-2395-08 TCGA-HT-8563-10A-01D-2396-08 g.chr12:122012481A>C c.368T>G c.(367-369)tTc>tGc p.F123C HNSC 12 121868266 121868266 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:121868266T>C c.3836A>G c.(3835-3837)aAt>aGt p.N1279S HNSC 12 121878774 121878774 + Missense_Mutation SNP C C T TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 g.chr12:121878774C>T c.3455G>A c.(3454-3456)cGg>cAg p.R1152Q HNSC 12 121879997 121879997 + Missense_Mutation SNP A A T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 g.chr12:121879997A>T c.3247T>A c.(3247-3249)Tgt>Agt p.C1083S HNSC 12 121880094 121880094 + Silent SNP G G T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 g.chr12:121880094G>T c.3150C>A c.(3148-3150)ccC>ccA p.P1050P HNSC 12 121880319 121880319 + Silent SNP C C T TCGA-UF-A71D-01A-12D-A34J-08 TCGA-UF-A71D-10B-01D-A34M-08 g.chr12:121880319C>T c.2925G>A c.(2923-2925)tcG>tcA p.S975S HNSC 12 121880535 121880535 + Silent SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 g.chr12:121880535C>T c.2709G>A c.(2707-2709)aaG>aaA p.K903K HNSC 12 121880818 121880818 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 g.chr12:121880818C>T c.2581G>A c.(2581-2583)Gaa>Aaa p.E861K HNSC 12 121881866 121881866 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr12:121881866C>T c.2400G>A c.(2398-2400)ctG>ctA p.L800L HNSC 12 121947475 121947475 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 g.chr12:121947475C>T c.1542G>A c.(1540-1542)ctG>ctA p.L514L HNSC 12 121947596 121947596 + Missense_Mutation SNP G G A TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 g.chr12:121947596G>A c.1421C>T c.(1420-1422)tCt>tTt p.S474F HNSC 12 121947745 121947747 + In_Frame_Del DEL CTC CTC - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr12:121947745_121947747delCTC c.1270_1272delGAG c.(1270-1272)gagdel p.E424del HNSC 12 121970759 121970759 + Missense_Mutation SNP A A T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 g.chr12:121970759A>T c.883T>A c.(883-885)Tgc>Agc p.C295S HNSC 12 121986850 121986850 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:121986850C>T c.615G>A c.(613-615)caG>caA p.Q205Q HNSC 12 122012498 122012498 + Splice_Site SNP C C T TCGA-CV-6938-01A-11D-1912-08 TCGA-CV-6938-10A-01D-1912-08 g.chr12:122012498C>T c.351G>A c.(349-351)aaG>aaA p.K117K HNSC 12 122018774 122018774 + Missense_Mutation SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 g.chr12:122018774G>A c.43C>T c.(43-45)Cca>Tca p.P15S KICH 12 121891003 121891003 + Missense_Mutation SNP A A G TCGA-KN-8431-01A-11D-2310-10 TCGA-KN-8431-11A-01D-2311-10 g.chr12:121891003A>G c.1879T>C c.(1879-1881)Tgc>Cgc p.C627R KIPAN 12 121881832 121881833 + Missense_Mutation DNP GC GC AA TCGA-B9-A5W9-01A-11D-A28G-10 TCGA-B9-A5W9-10A-01D-A28G-10 g.chr12:121881832_121881833GC>AA c.2433_2434GC>TT c.(2431-2436)gaGCtg>gaTTtg p.E811D KIPAN 12 121881963 121881963 + Missense_Mutation SNP C C T TCGA-MH-A854-01A-11D-A34Z-10 TCGA-MH-A854-10A-01D-A34Z-10 g.chr12:121881963C>T c.2303G>A c.(2302-2304)aGt>aAt p.S768N KIPAN 12 121891003 121891003 + Missense_Mutation SNP A A G TCGA-KN-8431-01A-11D-2310-10 TCGA-KN-8431-11A-01D-2311-10 g.chr12:121891003A>G c.1879T>C c.(1879-1881)Tgc>Cgc p.C627R KIPAN 12 121947832 121947832 + Silent SNP C C T TCGA-EV-5901-01A-11D-1589-08 TCGA-EV-5901-10A-01D-1589-08 g.chr12:121947832C>T c.1185G>A c.(1183-1185)agG>agA p.R395R KIPAN 12 121972425 121972429 + Frame_Shift_Del DEL ACCAA ACCAA - TCGA-CZ-5459-01A-01D-1501-10 TCGA-CZ-5459-11A-01D-1501-10 g.chr12:121972425_121972429delACCAA c.750_754delTTGGT c.(748-756)gtttggtacfs p.WY251fs KIPAN 12 122013702 122013702 + Missense_Mutation SNP C C A TCGA-BP-4761-01A-01D-1366-10 TCGA-BP-4761-11A-01D-1366-10 g.chr12:122013702C>A c.334G>T c.(334-336)Gat>Tat p.D112Y KIRC 12 121972425 121972429 + Frame_Shift_Del DEL ACCAA ACCAA - TCGA-CZ-5459-01A-01D-1501-10 TCGA-CZ-5459-11A-01D-1501-10 g.chr12:121972425_121972429delACCAA c.750_754delTTGGT c.(748-756)gtttggtacfs p.WY251fs KIRC 12 122013702 122013702 + Missense_Mutation SNP C C A TCGA-BP-4761-01A-01D-1366-10 TCGA-BP-4761-11A-01D-1366-10 g.chr12:122013702C>A c.334G>T c.(334-336)Gat>Tat p.D112Y KIRP 12 121881832 121881833 + Missense_Mutation DNP GC GC AA TCGA-B9-A5W9-01A-11D-A28G-10 TCGA-B9-A5W9-10A-01D-A28G-10 g.chr12:121881832_121881833GC>AA c.2433_2434GC>TT c.(2431-2436)gaGCtg>gaTTtg p.E811D KIRP 12 121881963 121881963 + Missense_Mutation SNP C C T TCGA-MH-A854-01A-11D-A34Z-10 TCGA-MH-A854-10A-01D-A34Z-10 g.chr12:121881963C>T c.2303G>A c.(2302-2304)aGt>aAt p.S768N KIRP 12 121947832 121947832 + Silent SNP C C T TCGA-EV-5901-01A-11D-1589-08 TCGA-EV-5901-10A-01D-1589-08 g.chr12:121947832C>T c.1185G>A c.(1183-1185)agG>agA p.R395R LAML 12 121880386 121880386 + Missense_Mutation SNP T T C TCGA-AB-2806-03B-01W-0728-08 TCGA-AB-2806-11B-01W-0728-08 g.chr12:121880386T>C c.2858A>G c.(2857-2859)gAg>gGg p.E953G LGG 12 121877673 121877673 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:121877673C>A c.3816G>T c.(3814-3816)gaG>gaT p.E1272D LGG 12 121882002 121882002 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:121882002C>T c.2264G>A c.(2263-2265)cGg>cAg p.R755Q LGG 12 122012481 122012481 + Missense_Mutation SNP A A C TCGA-HT-8563-01A-11D-2395-08 TCGA-HT-8563-10A-01D-2396-08 g.chr12:122012481A>C c.368T>G c.(367-369)tTc>tGc p.F123C LIHC 12 121868167 121868167 + Missense_Mutation SNP T T C TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr12:121868167T>C c.3935A>G c.(3934-3936)gAg>gGg p.E1312G LIHC 12 121880092 121880092 + Frame_Shift_Del DEL G G - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr12:121880092delG c.3152delC c.(3151-3153)ccgfs p.P1052fs LIHC 12 121880092 121880092 + Frame_Shift_Del DEL G G - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr12:121880092delG c.3152delC c.(3151-3153)ccgfs p.P1052fs LIHC 12 121947514 121947514 + Missense_Mutation SNP C C G TCGA-CC-A8HT-01A-11D-A35Z-10 TCGA-CC-A8HT-10A-01D-A35Z-10 g.chr12:121947514C>G c.1503G>C c.(1501-1503)gaG>gaC p.E501D LIHC 12 122018773 122018773 + Frame_Shift_Del DEL G G - TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr12:122018773delG c.44delC c.(43-45)ccafs p.P15fs LUAD 12 121878685 121878685 + Missense_Mutation SNP A A T TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr12:121878685A>T c.3544T>A c.(3544-3546)Tgg>Agg p.W1182R LUAD 12 121878958 121878958 + Silent SNP G G A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 g.chr12:121878958G>A c.3363C>T c.(3361-3363)atC>atT p.I1121I LUAD 12 121881557 121881557 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 g.chr12:121881557G>A c.2491C>T c.(2491-2493)Ctc>Ttc p.L831F LUAD 12 121881874 121881874 + Missense_Mutation SNP C C T TCGA-38-6178-01A-11D-1753-08 TCGA-38-6178-10A-01D-1753-08 g.chr12:121881874C>T c.2392G>A c.(2392-2394)Gtg>Atg p.V798M LUAD 12 121881901 121881901 + Missense_Mutation SNP C C G TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 g.chr12:121881901C>G c.2365G>C c.(2365-2367)Ggc>Cgc p.G789R LUAD 12 121881939 121881939 + Missense_Mutation SNP C C G TCGA-17-Z028-01A-01W-0746-08 TCGA-17-Z028-11A-01W-0746-08 g.chr12:121881939C>G c.2327G>C c.(2326-2328)cGc>cCc p.R776P LUAD 12 121882033 121882033 + Missense_Mutation SNP C C A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 g.chr12:121882033C>A c.2233G>T c.(2233-2235)Ggc>Tgc p.G745C LUAD 12 121882328 121882328 + Silent SNP T T A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 g.chr12:121882328T>A c.2115A>T c.(2113-2115)tcA>tcT p.S705S LUAD 12 121890960 121890960 + Missense_Mutation SNP C C A TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 g.chr12:121890960C>A c.1922G>T c.(1921-1923)cGc>cTc p.R641L LUAD 12 121890993 121890993 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 g.chr12:121890993C>T c.1889G>A c.(1888-1890)tGc>tAc p.C630Y LUAD 12 121891037 121891037 + Missense_Mutation SNP C C G TCGA-MN-A4N1-01A-11D-A24P-08 TCGA-MN-A4N1-10A-01D-A24P-08 g.chr12:121891037C>G c.1845G>C c.(1843-1845)aaG>aaC p.K615N LUAD 12 121891041 121891041 + Missense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr12:121891041C>A c.1841G>T c.(1840-1842)cGc>cTc p.R614L LUAD 12 121947691 121947691 + Silent SNP G G T TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr12:121947691G>T c.1326C>A c.(1324-1326)ggC>ggA p.G442G LUAD 12 121947779 121947779 + Missense_Mutation SNP T T A TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 g.chr12:121947779T>A c.1238A>T c.(1237-1239)gAg>gTg p.E413V LUAD 12 121951131 121951131 + Silent SNP C C A TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chr12:121951131C>A c.1122G>T c.(1120-1122)gtG>gtT p.V374V LUAD 12 121987442 121987442 + Missense_Mutation SNP G G A TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr12:121987442G>A c.499C>T c.(499-501)Cgg>Tgg p.R167W LUAD 12 122012500 122012500 + Splice_Site SNP T T C TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr12:122012500T>C c.e4-2 LUAD 12 122017946 122017946 + Intron SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 g.chr12:122017946C>G LUAD 12 122018776 122018776 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chr12:122018776G>A c.41C>T c.(40-42)cCc>cTc p.P14L LUAD 12 122018777 122018777 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chr12:122018777G>A c.40C>T c.(40-42)Ccc>Tcc p.P14S LUSC 12 121877660 121877660 + Splice_Site SNP C C T TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chr12:121877660C>T c.3829G>A c.(3829-3831)Gac>Aac p.D1277N LUSC 12 121880003 121880003 + Missense_Mutation SNP C C G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chr12:121880003C>G c.3241G>C c.(3241-3243)Gac>Cac p.D1081H LUSC 12 121947413 121947413 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr12:121947413G>A c.1604C>T c.(1603-1605)cCc>cTc p.P535L LUSC 12 121958790 121958790 + Silent SNP G G T TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 g.chr12:121958790G>T c.1045C>A c.(1045-1047)Cgg>Agg p.R349R LUSC 12 121958890 121958890 + Silent SNP G G A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 g.chr12:121958890G>A c.945C>T c.(943-945)gcC>gcT p.A315A LUSC 12 121986815 121986815 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr12:121986815G>A c.650C>T c.(649-651)gCc>gTc p.A217V LUSC 12 122016728 122016728 + Missense_Mutation SNP C C T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chr12:122016728C>T c.250G>A c.(250-252)Gtg>Atg p.V84M OV 12 121877819 121877819 + Missense_Mutation SNP C C A TCGA-13-1497-01A-01W-0549-09 TCGA-13-1497-10A-01W-0549-09 g.chr12:121877819C>A c.3670G>T c.(3670-3672)Gac>Tac p.D1224Y PAAD 12 121878657 121878657 + Missense_Mutation SNP A A G TCGA-US-A776-01A-13D-A33T-08 TCGA-US-A776-11A-11D-A33W-08 g.chr12:121878657A>G c.3572T>C c.(3571-3573)aTg>aCg p.M1191T PAAD 12 121878882 121878882 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:121878882G>A c.3439C>T c.(3439-3441)Cgg>Tgg p.R1147W PAAD 12 121880000 121880000 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:121880000G>T c.3244C>A c.(3244-3246)Ctg>Atg p.L1082M PAAD 12 121880187 121880187 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:121880187C>T c.3057G>A c.(3055-3057)ccG>ccA p.P1019P PAAD 12 121880308 121880308 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:121880308C>T c.2936G>A c.(2935-2937)aGc>aAc p.S979N PAAD 12 121881856 121881856 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:121881856G>A c.2410C>T c.(2410-2412)Cgg>Tgg p.R804W PAAD 12 121891035 121891035 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:121891035C>T c.1847G>A c.(1846-1848)tGc>tAc p.C616Y PRAD 12 121880305 121880305 + Missense_Mutation SNP T T G TCGA-4L-AA1F-01A-11D-A41K-08 TCGA-4L-AA1F-10A-01D-A41N-08 g.chr12:121880305T>G c.2939A>C c.(2938-2940)gAg>gCg p.E980A PRAD 12 121880538 121880538 + Silent SNP G G A TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 g.chr12:121880538G>A c.2706C>T c.(2704-2706)ccC>ccT p.P902P PRAD 12 121880545 121880545 + Missense_Mutation SNP G G A TCGA-V1-A9O5-01A-11D-A41K-08 TCGA-V1-A9O5-10A-01D-A41N-08 g.chr12:121880545G>A c.2699C>T c.(2698-2700)gCg>gTg p.A900V PRAD 12 121882032 121882032 + Missense_Mutation SNP C C T TCGA-HC-A9TH-01A-11D-A41K-08 TCGA-HC-A9TH-10A-01D-A41N-08 g.chr12:121882032C>T c.2234G>A c.(2233-2235)gGc>gAc p.G745D PRAD 12 121947469 121947469 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:121947469G>A c.1548C>T c.(1546-1548)ggC>ggT p.G516G READ 12 121880495 121880495 + Missense_Mutation SNP C C T TCGA-DC-5869-01A-01D-1657-10 TCGA-DC-5869-10A-01D-1657-10 g.chr12:121880495C>T c.2749G>A c.(2749-2751)Gcg>Acg p.A917T READ 12 121881589 121881589 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:121881589G>A c.2459C>T c.(2458-2460)tCg>tTg p.S820L SKCM 12 121868128 121868128 + Missense_Mutation SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr12:121868128C>T c.3974G>A c.(3973-3975)gGg>gAg p.G1325E SKCM 12 121868129 121868129 + Missense_Mutation SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr12:121868129C>T c.3973G>A c.(3973-3975)Ggg>Agg p.G1325R SKCM 12 121877844 121877844 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr12:121877844G>A c.3645C>T c.(3643-3645)atC>atT p.I1215I SKCM 12 121878617 121878617 + Splice_Site SNP A A C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr12:121878617A>C c.e21+1 SKCM 12 121878775 121878775 + Missense_Mutation SNP G G A TCGA-EE-A2GP-06A-11D-A197-08 TCGA-EE-A2GP-10A-01D-A199-08 g.chr12:121878775G>A c.3454C>T c.(3454-3456)Cgg>Tgg p.R1152W SKCM 12 121878776 121878776 + Silent SNP G G A TCGA-EE-A2GP-06A-11D-A197-08 TCGA-EE-A2GP-10A-01D-A199-08 g.chr12:121878776G>A c.3453C>T c.(3451-3453)ctC>ctT p.L1151L SKCM 12 121878938 121878938 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr12:121878938G>A c.3383C>T c.(3382-3384)tCc>tTc p.S1128F SKCM 12 121878938 121878938 + Missense_Mutation SNP G G A TCGA-FS-A1ZF-06A-12D-A197-08 TCGA-FS-A1ZF-10A-01D-A199-08 g.chr12:121878938G>A c.3383C>T c.(3382-3384)tCc>tTc p.S1128F SKCM 12 121880145 121880145 + Silent SNP G G A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr12:121880145G>A c.3099C>T c.(3097-3099)ccC>ccT p.P1033P SKCM 12 121880150 121880150 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:121880150G>A c.3094C>T c.(3094-3096)Ccg>Tcg p.P1032S SKCM 12 121880284 121880284 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr12:121880284G>A c.2960C>T c.(2959-2961)cCc>cTc p.P987L SKCM 12 121880320 121880320 + Missense_Mutation SNP G G A TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr12:121880320G>A c.2924C>T c.(2923-2925)tCg>tTg p.S975L SKCM 12 121880394 121880394 + Silent SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr12:121880394C>T c.2850G>A c.(2848-2850)ctG>ctA p.L950L SKCM 12 121881908 121881908 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 g.chr12:121881908C>T c.2358G>A c.(2356-2358)ccG>ccA p.P786P SKCM 12 121932414 121932414 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 g.chr12:121932414G>A c.1702C>T c.(1702-1704)Cct>Tct p.P568S SKCM 12 121932424 121932424 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:121932424G>A c.1692C>T c.(1690-1692)atC>atT p.I564I SKCM 12 121932437 121932437 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr12:121932437G>A c.1679C>T c.(1678-1680)cCt>cTt p.P560L SKCM 12 121947408 121947408 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr12:121947408C>T c.1609G>A c.(1609-1611)Ggc>Agc p.G537S SKCM 12 121947409 121947409 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr12:121947409C>T c.1608G>A c.(1606-1608)gaG>gaA p.E536E SKCM 12 121947466 121947466 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr12:121947466C>T c.1551G>A c.(1549-1551)ctG>ctA p.L517L SKCM 12 121947613 121947613 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:121947613G>A c.1404C>T c.(1402-1404)ttC>ttT p.F468F SKCM 12 121958817 121958817 + Silent SNP G G T TCGA-ER-A19M-06A-61D-A23B-08 TCGA-ER-A19M-10A-01D-A23B-08 g.chr12:121958817G>T c.1018C>A c.(1018-1020)Cgg>Agg p.R340R SKCM 12 121958818 121958818 + Silent SNP C C T TCGA-ER-A19M-06A-61D-A23B-08 TCGA-ER-A19M-10A-01D-A23B-08 g.chr12:121958818C>T c.1017G>A c.(1015-1017)ctG>ctA p.L339L SKCM 12 121970717 121970717 + Missense_Mutation SNP G G A TCGA-D3-A2J9-06A-11D-A196-08 TCGA-D3-A2J9-10A-01D-A198-08 g.chr12:121970717G>A c.925C>T c.(925-927)Cct>Tct p.P309S SKCM 12 121970721 121970721 + Silent SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr12:121970721G>A c.921C>T c.(919-921)ttC>ttT p.F307F SKCM 12 121970772 121970772 + Silent SNP G G A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr12:121970772G>A c.870C>T c.(868-870)gaC>gaT p.D290D SKCM 12 121972449 121972449 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr12:121972449C>A c.730G>T c.(730-732)Gac>Tac p.D244Y SKCM 12 121986849 121986850 + Frame_Shift_Ins INS - - CTGGA TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr12:121986849_121986850insCTGGA c.615_616insTCCAG c.(613-618)cagcatfs p.H206fs SKCM 12 121986882 121986882 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr12:121986882G>A c.583C>T c.(583-585)Ctg>Ttg p.L195L SKCM 12 122012474 122012474 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr12:122012474G>A c.375C>T c.(373-375)gtC>gtT p.V125V SKCM 12 122013721 122013721 + Silent SNP G G A TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr12:122013721G>A c.315C>T c.(313-315)ccC>ccT p.P105P SKCM 12 122013722 122013722 + Missense_Mutation SNP G G A TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr12:122013722G>A c.314C>T c.(313-315)cCc>cTc p.P105L SKCM 12 122018775 122018775 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:122018775G>A c.42C>T c.(40-42)ccC>ccT p.P14P

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 12 121970849 121970849 single base substitution G A 3_prime_UTR_variant BLCA-CN 12 121970849 121970849 single base substitution G A 5_prime_UTR_variant BLCA-CN 12 121970849 121970849 single base substitution G A exon_variant BLCA-CN 12 121970849 121970849 single base substitution G A intron_variant BLCA-CN 12 121970849 121970849 single base substitution G A missense_variant P148S 442C>T BLCA-CN 12 121970849 121970849 single base substitution G A missense_variant P228S 682C>T BLCA-CN 12 121970849 121970849 single base substitution G A missense_variant P234S 700C>T BLCA-CN 12 121970849 121970849 single base substitution G A missense_variant P265S 793C>T BLCA-CN 12 121970849 121970849 single base substitution G A missense_variant P34S 100C>T BLCA-US 12 121867872 121867872 single base substitution G C 3_prime_UTR_variant BLCA-US 12 121867872 121867872 single base substitution G C exon_variant BLCA-US 12 121878735 121878735 single base substitution G A downstream_gene_variant BLCA-US 12 121878735 121878735 single base substitution G A exon_variant BLCA-US 12 121878735 121878735 single base substitution G A intron_variant BLCA-US 12 121878735 121878735 single base substitution G A missense_variant S1096L 3287C>T BLCA-US 12 121878735 121878735 single base substitution G A missense_variant S1165L 3494C>T BLCA-US 12 121878735 121878735 single base substitution G A missense_variant S533L 1598C>T BLCA-US 12 121882022 121882022 single base substitution G C exon_variant BLCA-US 12 121882022 121882022 single base substitution G C intron_variant BLCA-US 12 121882022 121882022 single base substitution G C synonymous_variant L116L 348C>G BLCA-US 12 121882022 121882022 single base substitution G C synonymous_variant L717L 2151C>G BLCA-US 12 121882022 121882022 single base substitution G C synonymous_variant L748L 2244C>G BLCA-US 12 121882022 121882022 single base substitution G C upstream_gene_variant BLCA-US 12 121882333 121882333 single base substitution C A exon_variant BLCA-US 12 121882333 121882333 single base substitution C A intron_variant BLCA-US 12 121882333 121882333 single base substitution C A stop_gained E673* 2017G>T BLCA-US 12 121882333 121882333 single base substitution C A stop_gained E704* 2110G>T BLCA-US 12 121882333 121882333 single base substitution C A stop_gained E72* 214G>T BLCA-US 12 121882333 121882333 single base substitution C A upstream_gene_variant BLCA-US 12 121947735 121947735 single base substitution C A 3_prime_UTR_variant BLCA-US 12 121947735 121947735 single base substitution C A downstream_gene_variant BLCA-US 12 121947735 121947735 single base substitution C A exon_variant BLCA-US 12 121947735 121947735 single base substitution C A stop_gained E311* 931G>T BLCA-US 12 121947735 121947735 single base substitution C A stop_gained E338* 1012G>T BLCA-US 12 121947735 121947735 single base substitution C A stop_gained E391* 1171G>T BLCA-US 12 121947735 121947735 single base substitution C A stop_gained E397* 1189G>T BLCA-US 12 121947735 121947735 single base substitution C A stop_gained E428* 1282G>T BLCA-US 12 121947735 121947735 single base substitution C A upstream_gene_variant BOCA-FR 12 121886656 121886656 single base substitution T A intron_variant BOCA-UK 12 121878746 121878746 single base substitution C T downstream_gene_variant BOCA-UK 12 121878746 121878746 single base substitution C T exon_variant BOCA-UK 12 121878746 121878746 single base substitution C T intron_variant BOCA-UK 12 121878746 121878746 single base substitution C T stop_gained W1092* 3276G>A BOCA-UK 12 121878746 121878746 single base substitution C T stop_gained W1161* 3483G>A BOCA-UK 12 121878746 121878746 single base substitution C T stop_gained W529* 1587G>A BRCA-EU 12 121861939 121861939 single base substitution C T downstream_gene_variant BRCA-EU 12 121864018 121864018 single base substitution T C downstream_gene_variant BRCA-EU 12 121864299 121864299 single base substitution G C downstream_gene_variant BRCA-EU 12 121864617 121864617 single base substitution G C downstream_gene_variant BRCA-EU 12 121866218 121866218 single base substitution G C downstream_gene_variant BRCA-EU 12 121869626 121869626 deletion of <=200bp A - intron_variant BRCA-EU 12 121870553 121870553 single base substitution G A intron_variant BRCA-EU 12 121871292 121871292 single base substitution G T intron_variant BRCA-EU 12 121871751 121871751 single base substitution G T intron_variant BRCA-EU 12 121871886 121871886 single base substitution G T intron_variant BRCA-EU 12 121874949 121874949 single base substitution C T downstream_gene_variant BRCA-EU 12 121874949 121874949 single base substitution C T intron_variant BRCA-EU 12 121875471 121875471 single base substitution G A downstream_gene_variant BRCA-EU 12 121875471 121875471 single base substitution G A intron_variant BRCA-EU 12 121875958 121875958 single base substitution G C downstream_gene_variant BRCA-EU 12 121875958 121875958 single base substitution G C intron_variant BRCA-EU 12 121879879 121879879 single base substitution C T downstream_gene_variant BRCA-EU 12 121879879 121879879 single base substitution C T intron_variant BRCA-EU 12 121879879 121879879 single base substitution C T upstream_gene_variant BRCA-EU 12 121880662 121880662 single base substitution G A downstream_gene_variant BRCA-EU 12 121880662 121880662 single base substitution G A exon_variant BRCA-EU 12 121880662 121880662 single base substitution G A intron_variant BRCA-EU 12 121880662 121880662 single base substitution G A upstream_gene_variant BRCA-EU 12 121885411 121885411 single base substitution C G intron_variant BRCA-EU 12 121885959 121885959 insertion of <=200bp - A intron_variant BRCA-EU 12 121888489 121888489 single base substitution C A intron_variant BRCA-EU 12 121888911 121888911 deletion of <=200bp C - intron_variant BRCA-EU 12 121889768 121889768 deletion of <=200bp A - intron_variant BRCA-EU 12 121890072 121890072 single base substitution A C intron_variant BRCA-EU 12 121891056 121891056 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 121891056 121891056 single base substitution C T 5_prime_UTR_variant BRCA-EU 12 121891056 121891056 single base substitution C T exon_variant BRCA-EU 12 121891056 121891056 single base substitution C T missense_variant R492H 1475G>A BRCA-EU 12 121891056 121891056 single base substitution C T missense_variant R578H 1733G>A BRCA-EU 12 121891056 121891056 single base substitution C T missense_variant R609H 1826G>A BRCA-EU 12 121891331 121891331 single base substitution G A intron_variant BRCA-EU 12 121892771 121892771 deletion of <=200bp C - intron_variant BRCA-EU 12 121893698 121893698 single base substitution G C intron_variant BRCA-EU 12 121894876 121894876 single base substitution C T intron_variant BRCA-EU 12 121896342 121896342 single base substitution C A intron_variant BRCA-EU 12 121897884 121897884 single base substitution C G intron_variant BRCA-EU 12 121902041 121902041 insertion of <=200bp - A intron_variant BRCA-EU 12 121902411 121902411 single base substitution G A intron_variant BRCA-EU 12 121902890 121902890 deletion of <=200bp A - intron_variant BRCA-EU 12 121904087 121904087 single base substitution C G intron_variant BRCA-EU 12 121904183 121904183 single base substitution G A intron_variant BRCA-EU 12 121904878 121904878 single base substitution C A intron_variant BRCA-EU 12 121906409 121906409 single base substitution C G exon_variant BRCA-EU 12 121906409 121906409 single base substitution C G intron_variant BRCA-EU 12 121906706 121906706 single base substitution A T exon_variant BRCA-EU 12 121906706 121906706 single base substitution A T intron_variant BRCA-EU 12 121907910 121907910 single base substitution A G exon_variant BRCA-EU 12 121907910 121907910 single base substitution A G intron_variant BRCA-EU 12 121908875 121908875 single base substitution C G intron_variant BRCA-EU 12 121908875 121908875 single base substitution C G upstream_gene_variant BRCA-EU 12 121909410 121909410 single base substitution C T intron_variant BRCA-EU 12 121909410 121909410 single base substitution C T upstream_gene_variant BRCA-EU 12 121910479 121910479 single base substitution T C intron_variant BRCA-EU 12 121910479 121910479 single base substitution T C upstream_gene_variant BRCA-EU 12 121911423 121911423 single base substitution G A intron_variant BRCA-EU 12 121911423 121911423 single base substitution G A upstream_gene_variant BRCA-EU 12 121912243 121912243 single base substitution C T intron_variant BRCA-EU 12 121912243 121912243 single base substitution C T upstream_gene_variant BRCA-EU 12 121912333 121912333 single base substitution T G intron_variant BRCA-EU 12 121912333 121912333 single base substitution T G upstream_gene_variant BRCA-EU 12 121912447 121912447 single base substitution A G intron_variant BRCA-EU 12 121912447 121912447 single base substitution A G upstream_gene_variant BRCA-EU 12 121912708 121912708 single base substitution T G intron_variant BRCA-EU 12 121912708 121912708 single base substitution T G upstream_gene_variant BRCA-EU 12 121913289 121913289 single base substitution C G intron_variant BRCA-EU 12 121913289 121913289 single base substitution C G upstream_gene_variant BRCA-EU 12 121913381 121913381 single base substitution G A intron_variant BRCA-EU 12 121913907 121913907 single base substitution G A intron_variant BRCA-EU 12 121914617 121914617 single base substitution G C intron_variant BRCA-EU 12 121915041 121915041 insertion of <=200bp - T intron_variant BRCA-EU 12 121918351 121918351 single base substitution C A intron_variant BRCA-EU 12 121921281 121921281 single base substitution G T intron_variant BRCA-EU 12 121922630 121922630 insertion of <=200bp - A intron_variant BRCA-EU 12 121925398 121925398 single base substitution G A intron_variant BRCA-EU 12 121926630 121926630 single base substitution G A intron_variant BRCA-EU 12 121927176 121927176 single base substitution G A downstream_gene_variant BRCA-EU 12 121927176 121927176 single base substitution G A intron_variant BRCA-EU 12 121927845 121927845 single base substitution C G downstream_gene_variant BRCA-EU 12 121927845 121927845 single base substitution C G intron_variant BRCA-EU 12 121928584 121928584 single base substitution G A downstream_gene_variant BRCA-EU 12 121928584 121928584 single base substitution G A intron_variant BRCA-EU 12 121929060 121929060 single base substitution C A downstream_gene_variant BRCA-EU 12 121929060 121929060 single base substitution C A intron_variant BRCA-EU 12 121929061 121929061 single base substitution T A downstream_gene_variant BRCA-EU 12 121929061 121929061 single base substitution T A intron_variant BRCA-EU 12 121929795 121929795 single base substitution A G downstream_gene_variant BRCA-EU 12 121929795 121929795 single base substitution A G intron_variant BRCA-EU 12 121929898 121929898 single base substitution T C downstream_gene_variant BRCA-EU 12 121929898 121929898 single base substitution T C intron_variant BRCA-EU 12 121930731 121930731 single base substitution A G downstream_gene_variant BRCA-EU 12 121930731 121930731 single base substitution A G intron_variant BRCA-EU 12 121931228 121931228 single base substitution C A downstream_gene_variant BRCA-EU 12 121931228 121931228 single base substitution C A intron_variant BRCA-EU 12 121931932 121931932 single base substitution A G 3_prime_UTR_variant BRCA-EU 12 121931932 121931932 single base substitution A G intron_variant BRCA-EU 12 121932874 121932874 single base substitution C T intron_variant BRCA-EU 12 121933120 121933120 single base substitution C T intron_variant BRCA-EU 12 121933534 121933534 single base substitution G A intron_variant BRCA-EU 12 121937089 121937089 single base substitution C G intron_variant BRCA-EU 12 121937297 121937297 single base substitution T A intron_variant BRCA-EU 12 121942358 121942358 single base substitution C T intron_variant BRCA-EU 12 121942527 121942527 single base substitution G A downstream_gene_variant BRCA-EU 12 121942527 121942527 single base substitution G A intron_variant BRCA-EU 12 121943484 121943484 single base substitution G A downstream_gene_variant BRCA-EU 12 121943484 121943484 single base substitution G A intron_variant BRCA-EU 12 121943494 121943494 single base substitution C T downstream_gene_variant BRCA-EU 12 121943494 121943494 single base substitution C T intron_variant BRCA-EU 12 121943705 121943705 single base substitution G C downstream_gene_variant BRCA-EU 12 121943705 121943705 single base substitution G C intron_variant BRCA-EU 12 121944129 121944129 single base substitution G A downstream_gene_variant BRCA-EU 12 121944129 121944129 single base substitution G A intron_variant BRCA-EU 12 121944481 121944481 single base substitution C T downstream_gene_variant BRCA-EU 12 121944481 121944481 single base substitution C T intron_variant BRCA-EU 12 121945122 121945122 single base substitution A G downstream_gene_variant BRCA-EU 12 121945122 121945122 single base substitution A G intron_variant BRCA-EU 12 121946256 121946256 single base substitution G A downstream_gene_variant BRCA-EU 12 121946256 121946256 single base substitution G A intron_variant BRCA-EU 12 121946834 121946834 single base substitution G A downstream_gene_variant BRCA-EU 12 121946834 121946834 single base substitution G A intron_variant BRCA-EU 12 121948921 121948921 single base substitution C G downstream_gene_variant BRCA-EU 12 121948921 121948921 single base substitution C G intron_variant BRCA-EU 12 121948921 121948921 single base substitution C G upstream_gene_variant BRCA-EU 12 121951729 121951729 single base substitution G A downstream_gene_variant BRCA-EU 12 121951729 121951729 single base substitution G A intron_variant BRCA-EU 12 121951729 121951729 single base substitution G A upstream_gene_variant BRCA-EU 12 121952184 121952184 single base substitution G C downstream_gene_variant BRCA-EU 12 121952184 121952184 single base substitution G C intron_variant BRCA-EU 12 121952184 121952184 single base substitution G C upstream_gene_variant BRCA-EU 12 121953423 121953427 deletion of <=200bp TCCGT - downstream_gene_variant BRCA-EU 12 121953423 121953427 deletion of <=200bp TCCGT - intron_variant BRCA-EU 12 121953735 121953735 single base substitution T G downstream_gene_variant BRCA-EU 12 121953735 121953735 single base substitution T G intron_variant BRCA-EU 12 121954219 121954219 single base substitution T A 3_prime_UTR_variant BRCA-EU 12 121954219 121954219 single base substitution T A downstream_gene_variant BRCA-EU 12 121954219 121954219 single base substitution T A intron_variant BRCA-EU 12 121955880 121955880 single base substitution G C downstream_gene_variant BRCA-EU 12 121955880 121955880 single base substitution G C intron_variant BRCA-EU 12 121956990 121956990 single base substitution T A downstream_gene_variant BRCA-EU 12 121956990 121956990 single base substitution T A intron_variant BRCA-EU 12 121957630 121957630 single base substitution G A downstream_gene_variant BRCA-EU 12 121957630 121957630 single base substitution G A intron_variant BRCA-EU 12 121958068 121958068 single base substitution G A downstream_gene_variant BRCA-EU 12 121958068 121958068 single base substitution G A intron_variant BRCA-EU 12 121959087 121959087 single base substitution G C intron_variant BRCA-EU 12 121959845 121959845 single base substitution G A intron_variant BRCA-EU 12 121959976 121959976 single base substitution C A intron_variant BRCA-EU 12 121961417 121961417 single base substitution G A intron_variant BRCA-EU 12 121965338 121965338 single base substitution G A intron_variant BRCA-EU 12 121965338 121965338 single base substitution G A upstream_gene_variant BRCA-EU 12 121966705 121966705 single base substitution G A downstream_gene_variant BRCA-EU 12 121966705 121966705 single base substitution G A intron_variant BRCA-EU 12 121966705 121966705 single base substitution G A upstream_gene_variant BRCA-EU 12 121968034 121968034 single base substitution G A downstream_gene_variant BRCA-EU 12 121968034 121968034 single base substitution G A intron_variant BRCA-EU 12 121969335 121969335 single base substitution G A downstream_gene_variant BRCA-EU 12 121969335 121969335 single base substitution G A intron_variant BRCA-EU 12 121969782 121969782 single base substitution G C downstream_gene_variant BRCA-EU 12 121969782 121969782 single base substitution G C intron_variant BRCA-EU 12 121970543 121970543 single base substitution G T downstream_gene_variant BRCA-EU 12 121970543 121970543 single base substitution G T intron_variant BRCA-EU 12 121971990 121971990 single base substitution C T intron_variant BRCA-EU 12 121972981 121972981 single base substitution C G intron_variant BRCA-EU 12 121972981 121972981 single base substitution C G upstream_gene_variant BRCA-EU 12 121973158 121973158 single base substitution A T intron_variant BRCA-EU 12 121973158 121973158 single base substitution A T upstream_gene_variant BRCA-EU 12 121974852 121974852 single base substitution G T intron_variant BRCA-EU 12 121974852 121974852 single base substitution G T upstream_gene_variant BRCA-EU 12 121976653 121976653 single base substitution T C intron_variant BRCA-EU 12 121976653 121976653 single base substitution T C upstream_gene_variant BRCA-EU 12 121977450 121977450 single base substitution C T intron_variant BRCA-EU 12 121977450 121977450 single base substitution C T upstream_gene_variant BRCA-EU 12 121978140 121978140 single base substitution G A intron_variant BRCA-EU 12 121978140 121978140 single base substitution G A upstream_gene_variant BRCA-EU 12 121978509 121978509 single base substitution T A intron_variant BRCA-EU 12 121978509 121978509 single base substitution T A upstream_gene_variant BRCA-EU 12 121979464 121979464 single base substitution C T intron_variant BRCA-EU 12 121979464 121979464 single base substitution C T upstream_gene_variant BRCA-EU 12 121979530 121979530 single base substitution C G intron_variant BRCA-EU 12 121979530 121979530 single base substitution C G upstream_gene_variant BRCA-EU 12 121980668 121980668 single base substitution C T intron_variant BRCA-EU 12 121982382 121982382 single base substitution G C intron_variant BRCA-EU 12 121982574 121982574 single base substitution T A intron_variant BRCA-EU 12 121984429 121984429 single base substitution A T intron_variant BRCA-EU 12 121985585 121985585 single base substitution C T intron_variant BRCA-EU 12 121985696 121985696 insertion of <=200bp - CAC intron_variant BRCA-EU 12 121986972 121986972 deletion of <=200bp C - intron_variant BRCA-EU 12 121987565 121987565 single base substitution T A intron_variant BRCA-EU 12 121987565 121987565 single base substitution T A upstream_gene_variant BRCA-EU 12 121988703 121988703 deletion of <=200bp T - intron_variant BRCA-EU 12 121988703 121988703 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 121995645 121995645 single base substitution A G intron_variant BRCA-EU 12 121995962 121995962 single base substitution C T intron_variant BRCA-EU 12 121996251 121996251 single base substitution G A intron_variant BRCA-EU 12 121997568 121997568 single base substitution G A intron_variant BRCA-EU 12 121997995 121997995 single base substitution G C intron_variant BRCA-EU 12 121999068 121999068 single base substitution C G intron_variant BRCA-EU 12 121999203 121999203 single base substitution T C intron_variant BRCA-EU 12 122000496 122000496 single base substitution T G intron_variant BRCA-EU 12 122000554 122000554 single base substitution G C intron_variant BRCA-EU 12 122000871 122000871 single base substitution G C intron_variant BRCA-EU 12 122001050 122001050 single base substitution C T intron_variant BRCA-EU 12 122001765 122001765 single base substitution G T intron_variant BRCA-EU 12 122001814 122001814 deletion of <=200bp A - intron_variant BRCA-EU 12 122002206 122002206 single base substitution C T intron_variant BRCA-EU 12 122002366 122002366 deletion of <=200bp A - intron_variant BRCA-EU 12 122003239 122003239 insertion of <=200bp - A intron_variant BRCA-EU 12 122003338 122003338 single base substitution C T intron_variant BRCA-EU 12 122004311 122004311 single base substitution G T intron_variant BRCA-EU 12 122005954 122005954 single base substitution G A intron_variant BRCA-EU 12 122006057 122006057 single base substitution G C intron_variant BRCA-EU 12 122007348 122007348 single base substitution G A downstream_gene_variant BRCA-EU 12 122007348 122007348 single base substitution G A intron_variant BRCA-EU 12 122009531 122009531 single base substitution C A downstream_gene_variant BRCA-EU 12 122009531 122009531 single base substitution C A intron_variant BRCA-EU 12 122009735 122009735 single base substitution T C downstream_gene_variant BRCA-EU 12 122009735 122009735 single base substitution T C intron_variant BRCA-EU 12 122010339 122010339 single base substitution A T downstream_gene_variant BRCA-EU 12 122010339 122010339 single base substitution A T intron_variant BRCA-EU 12 122010591 122010591 single base substitution C A downstream_gene_variant BRCA-EU 12 122010591 122010591 single base substitution C A intron_variant BRCA-EU 12 122014186 122014186 single base substitution G A intron_variant BRCA-EU 12 122014315 122014316 deletion of <=200bp TG - intron_variant BRCA-EU 12 122016026 122016026 single base substitution G C intron_variant BRCA-EU 12 122016492 122016492 single base substitution C T intron_variant BRCA-EU 12 122020558 122020558 insertion of <=200bp - C upstream_gene_variant BRCA-EU 12 122021004 122021004 single base substitution C T upstream_gene_variant BRCA-EU 12 122022327 122022327 single base substitution A G upstream_gene_variant BRCA-EU 12 122022510 122022510 single base substitution G A upstream_gene_variant BRCA-FR 12 121871751 121871751 single base substitution G T intron_variant BRCA-FR 12 121874949 121874949 single base substitution C T downstream_gene_variant BRCA-FR 12 121874949 121874949 single base substitution C T intron_variant BRCA-FR 12 121875958 121875958 single base substitution G C downstream_gene_variant BRCA-FR 12 121875958 121875958 single base substitution G C intron_variant BRCA-FR 12 121880662 121880662 single base substitution G A downstream_gene_variant BRCA-FR 12 121880662 121880662 single base substitution G A exon_variant BRCA-FR 12 121880662 121880662 single base substitution G A intron_variant BRCA-FR 12 121880662 121880662 single base substitution G A upstream_gene_variant BRCA-FR 12 121890112 121890112 single base substitution C G intron_variant BRCA-FR 12 121891533 121891533 single base substitution T C intron_variant BRCA-FR 12 121893698 121893698 single base substitution G C intron_variant BRCA-FR 12 121895225 121895225 single base substitution C T intron_variant BRCA-FR 12 121932874 121932874 single base substitution C T intron_variant BRCA-FR 12 121943494 121943494 single base substitution C T downstream_gene_variant BRCA-FR 12 121943494 121943494 single base substitution C T intron_variant BRCA-FR 12 121943705 121943705 single base substitution G C downstream_gene_variant BRCA-FR 12 121943705 121943705 single base substitution G C intron_variant BRCA-FR 12 121944129 121944129 single base substitution G A downstream_gene_variant BRCA-FR 12 121944129 121944129 single base substitution G A intron_variant BRCA-FR 12 121945938 121945938 single base substitution A G downstream_gene_variant BRCA-FR 12 121945938 121945938 single base substitution A G intron_variant BRCA-FR 12 121959087 121959087 single base substitution G C intron_variant BRCA-FR 12 121959845 121959845 single base substitution G A intron_variant BRCA-FR 12 121965338 121965338 single base substitution G A intron_variant BRCA-FR 12 121965338 121965338 single base substitution G A upstream_gene_variant BRCA-FR 12 121969278 121969278 single base substitution G A downstream_gene_variant BRCA-FR 12 121969278 121969278 single base substitution G A intron_variant BRCA-FR 12 121969782 121969782 single base substitution G C downstream_gene_variant BRCA-FR 12 121969782 121969782 single base substitution G C intron_variant BRCA-FR 12 121970543 121970543 single base substitution G T downstream_gene_variant BRCA-FR 12 121970543 121970543 single base substitution G T intron_variant BRCA-FR 12 121992541 121992541 single base substitution C A intron_variant BRCA-FR 12 121992541 121992541 single base substitution C A upstream_gene_variant BRCA-FR 12 122002237 122002237 single base substitution C T intron_variant BRCA-FR 12 122002559 122002559 single base substitution G A intron_variant BRCA-FR 12 122005954 122005954 single base substitution G A intron_variant BRCA-UK 12 121987512 121987512 single base substitution C T 3_prime_UTR_variant BRCA-UK 12 121987512 121987512 single base substitution C T exon_variant BRCA-UK 12 121987512 121987512 single base substitution C T synonymous_variant V106V 318G>A BRCA-UK 12 121987512 121987512 single base substitution C T synonymous_variant V112V 336G>A BRCA-UK 12 121987512 121987512 single base substitution C T synonymous_variant V143V 429G>A BRCA-UK 12 121987512 121987512 single base substitution C T synonymous_variant V26V 78G>A BRCA-UK 12 121999536 121999536 single base substitution G A intron_variant BRCA-UK 12 122000598 122000598 single base substitution G A intron_variant BRCA-UK 12 122003338 122003338 single base substitution C T intron_variant BRCA-UK 12 122004912 122004912 single base substitution G C intron_variant BRCA-UK 12 122005483 122005483 single base substitution G A intron_variant BRCA-UK 12 122005494 122005494 single base substitution G A intron_variant BRCA-UK 12 122005533 122005533 single base substitution G C intron_variant BRCA-UK 12 122006266 122006266 single base substitution G A intron_variant BRCA-UK 12 122006284 122006284 single base substitution G C intron_variant BRCA-UK 12 122010339 122010339 single base substitution A T downstream_gene_variant BRCA-UK 12 122010339 122010339 single base substitution A T intron_variant BRCA-US 12 121868126 121868126 single base substitution G T 3_prime_UTR_variant BRCA-US 12 121868126 121868126 single base substitution G T exon_variant BRCA-US 12 121868126 121868126 single base substitution G T intron_variant BRCA-US 12 121868126 121868126 single base substitution G T missense_variant Q1326K 3976C>A BRCA-US 12 121868126 121868126 single base substitution G T missense_variant Q694K 2080C>A BRCA-US 12 121878877 121878877 single base substitution C A downstream_gene_variant BRCA-US 12 121878877 121878877 single base substitution C A exon_variant BRCA-US 12 121878877 121878877 single base substitution C A intron_variant BRCA-US 12 121878877 121878877 single base substitution C A synonymous_variant L1079L 3237G>T BRCA-US 12 121878877 121878877 single base substitution C A synonymous_variant L1148L 3444G>T BRCA-US 12 121878877 121878877 single base substitution C A synonymous_variant L516L 1548G>T BRCA-US 12 121878934 121878934 single base substitution G T downstream_gene_variant BRCA-US 12 121878934 121878934 single base substitution G T exon_variant BRCA-US 12 121878934 121878934 single base substitution G T intron_variant BRCA-US 12 121878934 121878934 single base substitution G T synonymous_variant L1060L 3180C>A BRCA-US 12 121878934 121878934 single base substitution G T synonymous_variant L1129L 3387C>A BRCA-US 12 121878934 121878934 single base substitution G T synonymous_variant L497L 1491C>A BRCA-US 12 121880537 121880537 insertion of <=200bp - G downstream_gene_variant BRCA-US 12 121880537 121880537 insertion of <=200bp - G exon_variant BRCA-US 12 121880537 121880537 insertion of <=200bp - G frameshift_variant K271T? BRCA-US 12 121880537 121880537 insertion of <=200bp - G frameshift_variant K834T? BRCA-US 12 121880537 121880537 insertion of <=200bp - G frameshift_variant K903T? BRCA-US 12 121880537 121880537 insertion of <=200bp - G intron_variant BRCA-US 12 121880537 121880537 insertion of <=200bp - G upstream_gene_variant BRCA-US 12 121880585 121880585 single base substitution G A downstream_gene_variant BRCA-US 12 121880585 121880585 single base substitution G A exon_variant BRCA-US 12 121880585 121880585 single base substitution G A intron_variant BRCA-US 12 121880585 121880585 single base substitution G A missense_variant R255W 763C>T BRCA-US 12 121880585 121880585 single base substitution G A missense_variant R818W 2452C>T BRCA-US 12 121880585 121880585 single base substitution G A missense_variant R887W 2659C>T BRCA-US 12 121880585 121880585 single base substitution G A upstream_gene_variant BRCA-US 12 121947738 121947738 single base substitution C T 3_prime_UTR_variant BRCA-US 12 121947738 121947738 single base substitution C T downstream_gene_variant BRCA-US 12 121947738 121947738 single base substitution C T exon_variant BRCA-US 12 121947738 121947738 single base substitution C T missense_variant E310K 928G>A BRCA-US 12 121947738 121947738 single base substitution C T missense_variant E337K 1009G>A BRCA-US 12 121947738 121947738 single base substitution C T missense_variant E390K 1168G>A BRCA-US 12 121947738 121947738 single base substitution C T missense_variant E396K 1186G>A BRCA-US 12 121947738 121947738 single base substitution C T missense_variant E427K 1279G>A BRCA-US 12 121947738 121947738 single base substitution C T upstream_gene_variant BRCA-US 12 121986850 121986850 single base substitution C T 3_prime_UTR_variant BRCA-US 12 121986850 121986850 single base substitution C T exon_variant BRCA-US 12 121986850 121986850 single base substitution C T synonymous_variant Q168Q 504G>A BRCA-US 12 121986850 121986850 single base substitution C T synonymous_variant Q174Q 522G>A BRCA-US 12 121986850 121986850 single base substitution C T synonymous_variant Q205Q 615G>A BRCA-US 12 121986850 121986850 single base substitution C T synonymous_variant Q88Q 264G>A BRCA-US 12 122017957 122017957 deletion of <=200bp T - 5_prime_UTR_variant BRCA-US 12 122017957 122017957 deletion of <=200bp T - exon_variant BRCA-US 12 122017957 122017957 deletion of <=200bp T - frameshift_variant M1 BRCA-US 12 122017957 122017957 deletion of <=200bp T - intron_variant BRCA-US 12 122017957 122017957 deletion of <=200bp T - upstream_gene_variant BTCA-JP 12 121962370 121962370 single base substitution G A intron_variant BTCA-JP 12 121986986 121986986 single base substitution C T intron_variant BTCA-JP 12 122016803 122016803 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 12 122016803 122016803 single base substitution C T exon_variant BTCA-JP 12 122016803 122016803 single base substitution C T missense_variant V22M 64G>A BTCA-JP 12 122016803 122016803 single base substitution C T missense_variant V28M 82G>A BTCA-JP 12 122016803 122016803 single base substitution C T missense_variant V59M 175G>A BTCA-JP 12 122018074 122018074 single base substitution C T 5_prime_UTR_variant BTCA-JP 12 122018074 122018074 single base substitution C T intron_variant BTCA-JP 12 122018074 122018074 single base substitution C T upstream_gene_variant CESC-US 12 121868153 121868153 single base substitution C T 3_prime_UTR_variant CESC-US 12 121868153 121868153 single base substitution C T exon_variant CESC-US 12 121868153 121868153 single base substitution C T missense_variant E1248K 3742G>A CESC-US 12 121868153 121868153 single base substitution C T missense_variant E1317K 3949G>A CESC-US 12 121868153 121868153 single base substitution C T missense_variant E685K 2053G>A CESC-US 12 121880220 121880220 single base substitution C T downstream_gene_variant CESC-US 12 121880220 121880220 single base substitution C T exon_variant CESC-US 12 121880220 121880220 single base substitution C T intron_variant CESC-US 12 121880220 121880220 single base substitution C T synonymous_variant L1008L 3024G>A CESC-US 12 121880220 121880220 single base substitution C T synonymous_variant L376L 1128G>A CESC-US 12 121880220 121880220 single base substitution C T synonymous_variant L939L 2817G>A CESC-US 12 121880220 121880220 single base substitution C T upstream_gene_variant CESC-US 12 121880462 121880462 single base substitution C T downstream_gene_variant CESC-US 12 121880462 121880462 single base substitution C T exon_variant CESC-US 12 121880462 121880462 single base substitution C T intron_variant CESC-US 12 121880462 121880462 single base substitution C T missense_variant E296K 886G>A CESC-US 12 121880462 121880462 single base substitution C T missense_variant E859K 2575G>A CESC-US 12 121880462 121880462 single base substitution C T missense_variant E928K 2782G>A CESC-US 12 121880462 121880462 single base substitution C T upstream_gene_variant CESC-US 12 121947490 121947490 single base substitution G C 3_prime_UTR_variant CESC-US 12 121947490 121947490 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant CESC-US 12 121947490 121947490 single base substitution G C downstream_gene_variant CESC-US 12 121947490 121947490 single base substitution G C exon_variant CESC-US 12 121947490 121947490 single base substitution G C synonymous_variant L392L 1176C>G CESC-US 12 121947490 121947490 single base substitution G C synonymous_variant L419L 1257C>G CESC-US 12 121947490 121947490 single base substitution G C synonymous_variant L472L 1416C>G CESC-US 12 121947490 121947490 single base substitution G C synonymous_variant L478L 1434C>G CESC-US 12 121947490 121947490 single base substitution G C synonymous_variant L509L 1527C>G CESC-US 12 121947753 121947753 single base substitution C G 3_prime_UTR_variant CESC-US 12 121947753 121947753 single base substitution C G downstream_gene_variant CESC-US 12 121947753 121947753 single base substitution C G exon_variant CESC-US 12 121947753 121947753 single base substitution C G missense_variant E124Q 370G>C CESC-US 12 121947753 121947753 single base substitution C G missense_variant E305Q 913G>C CESC-US 12 121947753 121947753 single base substitution C G missense_variant E332Q 994G>C CESC-US 12 121947753 121947753 single base substitution C G missense_variant E385Q 1153G>C CESC-US 12 121947753 121947753 single base substitution C G missense_variant E391Q 1171G>C CESC-US 12 121947753 121947753 single base substitution C G missense_variant E422Q 1264G>C CESC-US 12 121947753 121947753 single base substitution C G upstream_gene_variant CLLE-ES 12 121865299 121865299 single base substitution C T downstream_gene_variant CLLE-ES 12 121872249 121872249 single base substitution A C intron_variant CLLE-ES 12 121881870 121881870 single base substitution T C exon_variant CLLE-ES 12 121881870 121881870 single base substitution T C intron_variant CLLE-ES 12 121881870 121881870 single base substitution T C missense_variant H167R 500A>G CLLE-ES 12 121881870 121881870 single base substitution T C missense_variant H768R 2303A>G CLLE-ES 12 121881870 121881870 single base substitution T C missense_variant H799R 2396A>G CLLE-ES 12 121881870 121881870 single base substitution T C upstream_gene_variant CLLE-ES 12 121901931 121901931 single base substitution G A intron_variant CLLE-ES 12 121902749 121902749 single base substitution A G intron_variant CLLE-ES 12 121904889 121904889 single base substitution T G intron_variant CLLE-ES 12 121913619 121913619 single base substitution T A intron_variant CLLE-ES 12 121929809 121929809 single base substitution A G downstream_gene_variant CLLE-ES 12 121929809 121929809 single base substitution A G intron_variant CLLE-ES 12 121946334 121946334 single base substitution C T downstream_gene_variant CLLE-ES 12 121946334 121946334 single base substitution C T intron_variant CLLE-ES 12 121979645 121979645 single base substitution C T intron_variant CLLE-ES 12 121979645 121979645 single base substitution C T upstream_gene_variant CLLE-ES 12 121989277 121989277 single base substitution G T intron_variant CLLE-ES 12 121989277 121989277 single base substitution G T upstream_gene_variant CLLE-ES 12 121992157 121992157 single base substitution T G intron_variant CLLE-ES 12 121992157 121992157 single base substitution T G upstream_gene_variant CLLE-ES 12 121992484 121992484 single base substitution T A intron_variant CLLE-ES 12 121992484 121992484 single base substitution T A upstream_gene_variant CLLE-ES 12 122008349 122008349 single base substitution C T downstream_gene_variant CLLE-ES 12 122008349 122008349 single base substitution C T intron_variant COAD-US 12 121868242 121868242 single base substitution G A 3_prime_UTR_variant COAD-US 12 121868242 121868242 single base substitution G A exon_variant COAD-US 12 121868242 121868242 single base substitution G A missense_variant P547S 1639C>T COAD-US 12 121868242 121868242 single base substitution G A missense_variant S1218F 3653C>T COAD-US 12 121868242 121868242 single base substitution G A missense_variant S1287F 3860C>T COAD-US 12 121868242 121868242 single base substitution G A missense_variant S655F 1964C>T COAD-US 12 121877797 121877797 single base substitution C T downstream_gene_variant COAD-US 12 121877797 121877797 single base substitution C T exon_variant COAD-US 12 121877797 121877797 single base substitution C T intron_variant COAD-US 12 121877797 121877797 single base substitution C T missense_variant R1162Q 3485G>A COAD-US 12 121877797 121877797 single base substitution C T missense_variant R1231Q 3692G>A COAD-US 12 121877797 121877797 single base substitution C T missense_variant R599Q 1796G>A COAD-US 12 121878659 121878659 single base substitution C T downstream_gene_variant COAD-US 12 121878659 121878659 single base substitution C T exon_variant COAD-US 12 121878659 121878659 single base substitution C T intron_variant COAD-US 12 121878659 121878659 single base substitution C T synonymous_variant Q1121Q 3363G>A COAD-US 12 121878659 121878659 single base substitution C T synonymous_variant Q1190Q 3570G>A COAD-US 12 121878659 121878659 single base substitution C T synonymous_variant Q558Q 1674G>A COAD-US 12 121879990 121879991 deletion of <=200bp CA - downstream_gene_variant COAD-US 12 121879990 121879991 deletion of <=200bp CA - exon_variant COAD-US 12 121879990 121879991 deletion of <=200bp CA - frameshift_variant C1016 COAD-US 12 121879990 121879991 deletion of <=200bp CA - frameshift_variant C1085 COAD-US 12 121879990 121879991 deletion of <=200bp CA - frameshift_variant C453 COAD-US 12 121879990 121879991 deletion of <=200bp CA - intron_variant COAD-US 12 121879990 121879991 deletion of <=200bp CA - upstream_gene_variant COAD-US 12 121880098 121880098 single base substitution C A downstream_gene_variant COAD-US 12 121880098 121880098 single base substitution C A exon_variant COAD-US 12 121880098 121880098 single base substitution C A intron_variant COAD-US 12 121880098 121880098 single base substitution C A missense_variant S1049I 3146G>T COAD-US 12 121880098 121880098 single base substitution C A missense_variant S417I 1250G>T COAD-US 12 121880098 121880098 single base substitution C A missense_variant S980I 2939G>T COAD-US 12 121880098 121880098 single base substitution C A upstream_gene_variant COAD-US 12 121880520 121880520 single base substitution G A downstream_gene_variant COAD-US 12 121880520 121880520 single base substitution G A exon_variant COAD-US 12 121880520 121880520 single base substitution G A intron_variant COAD-US 12 121880520 121880520 single base substitution G A synonymous_variant D276D 828C>T COAD-US 12 121880520 121880520 single base substitution G A synonymous_variant D839D 2517C>T COAD-US 12 121880520 121880520 single base substitution G A synonymous_variant D908D 2724C>T COAD-US 12 121880520 121880520 single base substitution G A upstream_gene_variant COAD-US 12 121880522 121880522 single base substitution C T downstream_gene_variant COAD-US 12 121880522 121880522 single base substitution C T exon_variant COAD-US 12 121880522 121880522 single base substitution C T intron_variant COAD-US 12 121880522 121880522 single base substitution C T missense_variant D276N 826G>A COAD-US 12 121880522 121880522 single base substitution C T missense_variant D839N 2515G>A COAD-US 12 121880522 121880522 single base substitution C T missense_variant D908N 2722G>A COAD-US 12 121880522 121880522 single base substitution C T upstream_gene_variant COAD-US 12 121880796 121880796 deletion of <=200bp T - downstream_gene_variant COAD-US 12 121880796 121880796 deletion of <=200bp T - exon_variant COAD-US 12 121880796 121880796 deletion of <=200bp T - frameshift_variant K236 COAD-US 12 121880796 121880796 deletion of <=200bp T - frameshift_variant K799 COAD-US 12 121880796 121880796 deletion of <=200bp T - frameshift_variant K868 COAD-US 12 121880796 121880796 deletion of <=200bp T - intron_variant COAD-US 12 121880796 121880796 deletion of <=200bp T - upstream_gene_variant COAD-US 12 121881848 121881848 single base substitution G A exon_variant COAD-US 12 121881848 121881848 single base substitution G A intron_variant COAD-US 12 121881848 121881848 single base substitution G A synonymous_variant Y174Y 522C>T COAD-US 12 121881848 121881848 single base substitution G A synonymous_variant Y775Y 2325C>T COAD-US 12 121881848 121881848 single base substitution G A synonymous_variant Y806Y 2418C>T COAD-US 12 121881848 121881848 single base substitution G A upstream_gene_variant COAD-US 12 121891053 121891053 single base substitution C T 3_prime_UTR_variant COAD-US 12 121891053 121891053 single base substitution C T 5_prime_UTR_variant COAD-US 12 121891053 121891053 single base substitution C T exon_variant COAD-US 12 121891053 121891053 single base substitution C T missense_variant R493Q 1478G>A COAD-US 12 121891053 121891053 single base substitution C T missense_variant R579Q 1736G>A COAD-US 12 121891053 121891053 single base substitution C T missense_variant R610Q 1829G>A COAD-US 12 122017957 122017957 deletion of <=200bp T - 5_prime_UTR_variant COAD-US 12 122017957 122017957 deletion of <=200bp T - exon_variant COAD-US 12 122017957 122017957 deletion of <=200bp T - frameshift_variant M1 COAD-US 12 122017957 122017957 deletion of <=200bp T - intron_variant COAD-US 12 122017957 122017957 deletion of <=200bp T - upstream_gene_variant COAD-US 12 122018729 122018732 deletion of <=200bp TAAC - 5_prime_UTR_variant COAD-US 12 122018729 122018732 deletion of <=200bp TAAC - exon_variant COAD-US 12 122018729 122018732 deletion of <=200bp TAAC - frameshift_variant VI29 COAD-US 12 122018729 122018732 deletion of <=200bp TAAC - upstream_gene_variant COAD-US 12 122018740 122018740 deletion of <=200bp T - 5_prime_UTR_variant COAD-US 12 122018740 122018740 deletion of <=200bp T - exon_variant COAD-US 12 122018740 122018740 deletion of <=200bp T - frameshift_variant K26 COAD-US 12 122018740 122018740 deletion of <=200bp T - upstream_gene_variant COAD-US 12 122018748 122018748 insertion of <=200bp - T 5_prime_UTR_variant COAD-US 12 122018748 122018748 insertion of <=200bp - T exon_variant COAD-US 12 122018748 122018748 insertion of <=200bp - T frameshift_variant K23K? COAD-US 12 122018748 122018748 insertion of <=200bp - T upstream_gene_variant COAD-US 12 122018761 122018761 single base substitution T C 5_prime_UTR_variant COAD-US 12 122018761 122018761 single base substitution T C exon_variant COAD-US 12 122018761 122018761 single base substitution T C missense_variant H19R 56A>G COAD-US 12 122018761 122018761 single base substitution T C upstream_gene_variant COAD-US 12 122018773 122018773 deletion of <=200bp G - 5_prime_UTR_variant COAD-US 12 122018773 122018773 deletion of <=200bp G - exon_variant COAD-US 12 122018773 122018773 deletion of <=200bp G - frameshift_variant P15 COAD-US 12 122018773 122018773 deletion of <=200bp G - upstream_gene_variant COCA-CN 12 121868247 121868247 single base substitution G A 3_prime_UTR_variant COCA-CN 12 121868247 121868247 single base substitution G A exon_variant COCA-CN 12 121868247 121868247 single base substitution G A missense_variant A545V 1634C>T COCA-CN 12 121868247 121868247 single base substitution G A synonymous_variant C1216C 3648C>T COCA-CN 12 121868247 121868247 single base substitution G A synonymous_variant C1285C 3855C>T COCA-CN 12 121868247 121868247 single base substitution G A synonymous_variant C653C 1959C>T COCA-CN 12 121877622 121877622 single base substitution G A downstream_gene_variant COCA-CN 12 121877622 121877622 single base substitution G A intron_variant COCA-CN 12 121878734 121878734 single base substitution C A downstream_gene_variant COCA-CN 12 121878734 121878734 single base substitution C A exon_variant COCA-CN 12 121878734 121878734 single base substitution C A intron_variant COCA-CN 12 121878734 121878734 single base substitution C A synonymous_variant S1096S 3288G>T COCA-CN 12 121878734 121878734 single base substitution C A synonymous_variant S1165S 3495G>T COCA-CN 12 121878734 121878734 single base substitution C A synonymous_variant S533S 1599G>T COCA-CN 12 121880228 121880228 single base substitution G A downstream_gene_variant COCA-CN 12 121880228 121880228 single base substitution G A exon_variant COCA-CN 12 121880228 121880228 single base substitution G A intron_variant COCA-CN 12 121880228 121880228 single base substitution G A missense_variant R1006W 3016C>T COCA-CN 12 121880228 121880228 single base substitution G A missense_variant R374W 1120C>T COCA-CN 12 121880228 121880228 single base substitution G A missense_variant R937W 2809C>T COCA-CN 12 121880228 121880228 single base substitution G A upstream_gene_variant COCA-CN 12 121882471 121882471 single base substitution G C exon_variant COCA-CN 12 121882471 121882471 single base substitution G C intron_variant COCA-CN 12 121882471 121882471 single base substitution G C upstream_gene_variant COCA-CN 12 121947645 121947645 single base substitution C T 3_prime_UTR_variant COCA-CN 12 121947645 121947645 single base substitution C T downstream_gene_variant COCA-CN 12 121947645 121947645 single base substitution C T exon_variant COCA-CN 12 121947645 121947645 single base substitution C T missense_variant G341R 1021G>A COCA-CN 12 121947645 121947645 single base substitution C T missense_variant G368R 1102G>A COCA-CN 12 121947645 121947645 single base substitution C T missense_variant G421R 1261G>A COCA-CN 12 121947645 121947645 single base substitution C T missense_variant G427R 1279G>A COCA-CN 12 121947645 121947645 single base substitution C T missense_variant G458R 1372G>A COCA-CN 12 121947645 121947645 single base substitution C T upstream_gene_variant COCA-CN 12 121954179 121954179 single base substitution G A 3_prime_UTR_variant COCA-CN 12 121954179 121954179 single base substitution G A downstream_gene_variant COCA-CN 12 121954179 121954179 single base substitution G A intron_variant COCA-CN 12 121954219 121954219 single base substitution T A 3_prime_UTR_variant COCA-CN 12 121954219 121954219 single base substitution T A downstream_gene_variant COCA-CN 12 121954219 121954219 single base substitution T A intron_variant COCA-CN 12 121970784 121970784 single base substitution G T 3_prime_UTR_variant COCA-CN 12 121970784 121970784 single base substitution G T 5_prime_UTR_variant COCA-CN 12 121970784 121970784 single base substitution G T exon_variant COCA-CN 12 121970784 121970784 single base substitution G T intron_variant COCA-CN 12 121970784 121970784 single base substitution G T synonymous_variant I169I 507C>A COCA-CN 12 121970784 121970784 single base substitution G T synonymous_variant I249I 747C>A COCA-CN 12 121970784 121970784 single base substitution G T synonymous_variant I255I 765C>A COCA-CN 12 121970784 121970784 single base substitution G T synonymous_variant I286I 858C>A COCA-CN 12 121970784 121970784 single base substitution G T synonymous_variant I55I 165C>A COCA-CN 12 121987524 121987524 single base substitution G T 3_prime_UTR_variant COCA-CN 12 121987524 121987524 single base substitution G T exon_variant COCA-CN 12 121987524 121987524 single base substitution G T missense_variant D102E 306C>A COCA-CN 12 121987524 121987524 single base substitution G T missense_variant D108E 324C>A COCA-CN 12 121987524 121987524 single base substitution G T missense_variant D139E 417C>A COCA-CN 12 121987524 121987524 single base substitution G T missense_variant D22E 66C>A COCA-CN 12 122012429 122012429 insertion of <=200bp - CA exon_variant COCA-CN 12 122012429 122012429 insertion of <=200bp - CA intron_variant COCA-CN 12 122013711 122013711 single base substitution G A exon_variant COCA-CN 12 122013711 122013711 single base substitution G A intron_variant COCA-CN 12 122013711 122013711 single base substitution G A stop_gained R109* 325C>T COCA-CN 12 122013711 122013711 single base substitution G A stop_gained R72* 214C>T COCA-CN 12 122013711 122013711 single base substitution G A stop_gained R78* 232C>T COCA-CN 12 122016866 122016866 single base substitution A G intron_variant COCA-CN 12 122017866 122017866 single base substitution G A intron_variant COCA-CN 12 122017866 122017866 single base substitution G A upstream_gene_variant COCA-CN 12 122017868 122017868 single base substitution T A intron_variant COCA-CN 12 122017868 122017868 single base substitution T A upstream_gene_variant COCA-CN 12 122017882 122017882 single base substitution G A intron_variant COCA-CN 12 122017882 122017882 single base substitution G A upstream_gene_variant COCA-CN 12 122018054 122018054 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 12 122018054 122018054 single base substitution A C intron_variant COCA-CN 12 122018054 122018054 single base substitution A C upstream_gene_variant COCA-CN 12 122018717 122018717 single base substitution A C 5_prime_UTR_variant COCA-CN 12 122018717 122018717 single base substitution A C exon_variant COCA-CN 12 122018717 122018717 single base substitution A C missense_variant C34G 100T>G COCA-CN 12 122018717 122018717 single base substitution A C upstream_gene_variant EOPC-DE 12 121894851 121894851 single base substitution C T intron_variant EOPC-DE 12 121914473 121914473 single base substitution G A intron_variant EOPC-DE 12 121974963 121974963 single base substitution G C intron_variant EOPC-DE 12 121974963 121974963 single base substitution G C upstream_gene_variant ESAD-UK 12 121864803 121864803 single base substitution T G downstream_gene_variant ESAD-UK 12 121866298 121866298 single base substitution T C downstream_gene_variant ESAD-UK 12 121868483 121868483 single base substitution G T intron_variant ESAD-UK 12 121875795 121875795 single base substitution G A downstream_gene_variant ESAD-UK 12 121875795 121875795 single base substitution G A intron_variant ESAD-UK 12 121876876 121876876 single base substitution G C downstream_gene_variant ESAD-UK 12 121876876 121876876 single base substitution G C intron_variant ESAD-UK 12 121877245 121877245 single base substitution G A downstream_gene_variant ESAD-UK 12 121877245 121877245 single base substitution G A intron_variant ESAD-UK 12 121878216 121878216 insertion of <=200bp - G downstream_gene_variant ESAD-UK 12 121878216 121878216 insertion of <=200bp - G exon_variant ESAD-UK 12 121878216 121878216 insertion of <=200bp - G intron_variant ESAD-UK 12 121878769 121878769 single base substitution A G downstream_gene_variant ESAD-UK 12 121878769 121878769 single base substitution A G exon_variant ESAD-UK 12 121878769 121878769 single base substitution A G intron_variant ESAD-UK 12 121878769 121878769 single base substitution A G synonymous_variant L1085L 3253T>C ESAD-UK 12 121878769 121878769 single base substitution A G synonymous_variant L1154L 3460T>C ESAD-UK 12 121878769 121878769 single base substitution A G synonymous_variant L522L 1564T>C ESAD-UK 12 121878819 121878819 single base substitution G A downstream_gene_variant ESAD-UK 12 121878819 121878819 single base substitution G A intron_variant ESAD-UK 12 121879068 121879068 single base substitution A G downstream_gene_variant ESAD-UK 12 121879068 121879068 single base substitution A G intron_variant ESAD-UK 12 121879068 121879068 single base substitution A G upstream_gene_variant ESAD-UK 12 121884199 121884199 deletion of <=200bp A - intron_variant ESAD-UK 12 121884604 121884604 single base substitution C G intron_variant ESAD-UK 12 121887911 121887911 single base substitution G T intron_variant ESAD-UK 12 121888662 121888662 single base substitution A C intron_variant ESAD-UK 12 121890086 121890086 single base substitution A T intron_variant ESAD-UK 12 121893274 121893274 single base substitution G T intron_variant ESAD-UK 12 121894056 121894056 single base substitution A T intron_variant ESAD-UK 12 121895051 121895051 insertion of <=200bp - TTCTT intron_variant ESAD-UK 12 121899925 121899925 single base substitution C G intron_variant ESAD-UK 12 121904255 121904255 single base substitution A C intron_variant ESAD-UK 12 121908211 121908211 single base substitution T C exon_variant ESAD-UK 12 121908211 121908211 single base substitution T C intron_variant ESAD-UK 12 121910794 121910794 single base substitution C T intron_variant ESAD-UK 12 121910794 121910794 single base substitution C T upstream_gene_variant ESAD-UK 12 121911719 121911719 single base substitution C A intron_variant ESAD-UK 12 121911719 121911719 single base substitution C A upstream_gene_variant ESAD-UK 12 121911981 121911981 single base substitution T C intron_variant ESAD-UK 12 121911981 121911981 single base substitution T C upstream_gene_variant ESAD-UK 12 121914071 121914071 single base substitution C A intron_variant ESAD-UK 12 121914291 121914291 single base substitution A T intron_variant ESAD-UK 12 121914811 121914811 single base substitution C T intron_variant ESAD-UK 12 121917527 121917527 single base substitution C T intron_variant ESAD-UK 12 121917575 121917575 single base substitution C T intron_variant ESAD-UK 12 121919601 121919601 single base substitution G T intron_variant ESAD-UK 12 121920392 121920392 single base substitution C T intron_variant ESAD-UK 12 121924755 121924755 single base substitution A G intron_variant ESAD-UK 12 121925278 121925278 single base substitution C T intron_variant ESAD-UK 12 121926731 121926731 single base substitution C T downstream_gene_variant ESAD-UK 12 121926731 121926731 single base substitution C T intron_variant ESAD-UK 12 121928583 121928583 single base substitution C A downstream_gene_variant ESAD-UK 12 121928583 121928583 single base substitution C A intron_variant ESAD-UK 12 121929387 121929387 single base substitution G T downstream_gene_variant ESAD-UK 12 121929387 121929387 single base substitution G T intron_variant ESAD-UK 12 121930171 121930171 single base substitution C T downstream_gene_variant ESAD-UK 12 121930171 121930171 single base substitution C T intron_variant ESAD-UK 12 121934008 121934008 deletion of <=200bp T - intron_variant ESAD-UK 12 121934503 121934503 single base substitution C T intron_variant ESAD-UK 12 121936168 121936168 single base substitution G A intron_variant ESAD-UK 12 121937751 121937751 single base substitution C G intron_variant ESAD-UK 12 121937906 121937906 single base substitution G C intron_variant ESAD-UK 12 121938143 121938143 single base substitution G C intron_variant ESAD-UK 12 121938578 121938578 single base substitution C T intron_variant ESAD-UK 12 121939260 121939260 single base substitution G A intron_variant ESAD-UK 12 121940293 121940293 single base substitution G A intron_variant ESAD-UK 12 121941282 121941282 single base substitution T G intron_variant ESAD-UK 12 121944652 121944652 single base substitution T A downstream_gene_variant ESAD-UK 12 121944652 121944652 single base substitution T A intron_variant ESAD-UK 12 121946898 121946898 single base substitution G A downstream_gene_variant ESAD-UK 12 121946898 121946898 single base substitution G A intron_variant ESAD-UK 12 121954841 121954841 single base substitution G A downstream_gene_variant ESAD-UK 12 121954841 121954841 single base substitution G A intron_variant ESAD-UK 12 121955608 121955608 single base substitution A T downstream_gene_variant ESAD-UK 12 121955608 121955608 single base substitution A T intron_variant ESAD-UK 12 121955943 121955943 single base substitution G A downstream_gene_variant ESAD-UK 12 121955943 121955943 single base substitution G A intron_variant ESAD-UK 12 121958764 121958764 single base substitution G A downstream_gene_variant ESAD-UK 12 121958764 121958764 single base substitution G A intron_variant ESAD-UK 12 121959351 121959351 single base substitution C T intron_variant ESAD-UK 12 121961688 121961688 single base substitution C T intron_variant ESAD-UK 12 121966344 121966344 single base substitution A G downstream_gene_variant ESAD-UK 12 121966344 121966344 single base substitution A G intron_variant ESAD-UK 12 121966344 121966344 single base substitution A G upstream_gene_variant ESAD-UK 12 121970614 121970614 single base substitution A T downstream_gene_variant ESAD-UK 12 121970614 121970614 single base substitution A T intron_variant ESAD-UK 12 121971965 121971965 single base substitution A T intron_variant ESAD-UK 12 121973682 121973682 single base substitution A C intron_variant ESAD-UK 12 121973682 121973682 single base substitution A C upstream_gene_variant ESAD-UK 12 121973737 121973737 single base substitution G A intron_variant ESAD-UK 12 121973737 121973737 single base substitution G A upstream_gene_variant ESAD-UK 12 121975775 121975775 single base substitution C G intron_variant ESAD-UK 12 121975775 121975775 single base substitution C G upstream_gene_variant ESAD-UK 12 121981849 121981849 single base substitution G A intron_variant ESAD-UK 12 121982879 121982879 single base substitution C T intron_variant ESAD-UK 12 121985283 121985283 single base substitution A C intron_variant ESAD-UK 12 121989582 121989582 single base substitution C T intron_variant ESAD-UK 12 121989582 121989582 single base substitution C T upstream_gene_variant ESAD-UK 12 121991402 121991402 single base substitution G A intron_variant ESAD-UK 12 121991402 121991402 single base substitution G A upstream_gene_variant ESAD-UK 12 121995266 121995266 single base substitution C A intron_variant ESAD-UK 12 121995630 121995630 single base substitution C T intron_variant ESAD-UK 12 122001814 122001814 single base substitution A T intron_variant ESAD-UK 12 122002176 122002176 single base substitution G C intron_variant ESAD-UK 12 122003034 122003034 single base substitution G A intron_variant ESAD-UK 12 122004090 122004090 single base substitution C T intron_variant ESAD-UK 12 122004640 122004640 single base substitution G T intron_variant ESAD-UK 12 122005003 122005003 single base substitution C T intron_variant ESAD-UK 12 122005496 122005496 single base substitution G A intron_variant ESAD-UK 12 122006958 122006958 single base substitution A C intron_variant ESAD-UK 12 122007793 122007793 single base substitution G A downstream_gene_variant ESAD-UK 12 122007793 122007793 single base substitution G A intron_variant ESAD-UK 12 122008957 122008957 single base substitution G C downstream_gene_variant ESAD-UK 12 122008957 122008957 single base substitution G C intron_variant ESAD-UK 12 122011845 122011845 single base substitution C G downstream_gene_variant ESAD-UK 12 122011845 122011845 single base substitution C G intron_variant ESAD-UK 12 122014293 122014293 single base substitution A G intron_variant ESAD-UK 12 122014756 122014756 single base substitution C T intron_variant ESAD-UK 12 122016675 122016675 single base substitution G A intron_variant ESAD-UK 12 122017316 122017316 single base substitution C G intron_variant ESAD-UK 12 122018330 122018330 single base substitution C G 5_prime_UTR_variant ESAD-UK 12 122018330 122018330 single base substitution C G intron_variant ESAD-UK 12 122018330 122018330 single base substitution C G upstream_gene_variant ESAD-UK 12 122021570 122021570 single base substitution C T upstream_gene_variant ESAD-UK 12 122022937 122022937 deletion of <=200bp A - upstream_gene_variant ESCA-CN 12 121880612 121880612 single base substitution G A downstream_gene_variant ESCA-CN 12 121880612 121880612 single base substitution G A exon_variant ESCA-CN 12 121880612 121880612 single base substitution G A intron_variant ESCA-CN 12 121880612 121880612 single base substitution G A missense_variant R246C 736C>T ESCA-CN 12 121880612 121880612 single base substitution G A missense_variant R809C 2425C>T ESCA-CN 12 121880612 121880612 single base substitution G A missense_variant R878C 2632C>T ESCA-CN 12 121880612 121880612 single base substitution G A upstream_gene_variant GBM-US 12 121880300 121880300 single base substitution C T downstream_gene_variant GBM-US 12 121880300 121880300 single base substitution C T exon_variant GBM-US 12 121880300 121880300 single base substitution C T intron_variant GBM-US 12 121880300 121880300 single base substitution C T missense_variant E350K 1048G>A GBM-US 12 121880300 121880300 single base substitution C T missense_variant E913K 2737G>A GBM-US 12 121880300 121880300 single base substitution C T missense_variant E982K 2944G>A GBM-US 12 121880300 121880300 single base substitution C T upstream_gene_variant GBM-US 12 121880495 121880495 single base substitution C T downstream_gene_variant GBM-US 12 121880495 121880495 single base substitution C T exon_variant GBM-US 12 121880495 121880495 single base substitution C T intron_variant GBM-US 12 121880495 121880495 single base substitution C T missense_variant A285T 853G>A GBM-US 12 121880495 121880495 single base substitution C T missense_variant A848T 2542G>A GBM-US 12 121880495 121880495 single base substitution C T missense_variant A917T 2749G>A GBM-US 12 121880495 121880495 single base substitution C T upstream_gene_variant GBM-US 12 121890960 121890960 single base substitution C T 3_prime_UTR_variant GBM-US 12 121890960 121890960 single base substitution C T exon_variant GBM-US 12 121890960 121890960 single base substitution C T missense_variant R524H 1571G>A GBM-US 12 121890960 121890960 single base substitution C T missense_variant R610H 1829G>A GBM-US 12 121890960 121890960 single base substitution C T missense_variant R641H 1922G>A GBM-US 12 121890960 121890960 single base substitution C T missense_variant R9H 26G>A KIRC-US 12 121972425 121972429 deletion of <=200bp ACCAA - 3_prime_UTR_variant KIRC-US 12 121972425 121972429 deletion of <=200bp ACCAA - 5_prime_UTR_variant KIRC-US 12 121972425 121972429 deletion of <=200bp ACCAA - exon_variant KIRC-US 12 121972425 121972429 deletion of <=200bp ACCAA - frameshift_variant VWY133 KIRC-US 12 121972425 121972429 deletion of <=200bp ACCAA - frameshift_variant VWY19 KIRC-US 12 121972425 121972429 deletion of <=200bp ACCAA - frameshift_variant VWY213 KIRC-US 12 121972425 121972429 deletion of <=200bp ACCAA - frameshift_variant VWY219 KIRC-US 12 121972425 121972429 deletion of <=200bp ACCAA - frameshift_variant VWY250 KIRC-US 12 122013702 122013702 single base substitution C A exon_variant KIRC-US 12 122013702 122013702 single base substitution C A intron_variant KIRC-US 12 122013702 122013702 single base substitution C A missense_variant D112Y 334G>T KIRC-US 12 122013702 122013702 single base substitution C A missense_variant D75Y 223G>T KIRC-US 12 122013702 122013702 single base substitution C A missense_variant D81Y 241G>T KIRP-US 12 121881832 121881832 single base substitution G A exon_variant KIRP-US 12 121881832 121881832 single base substitution G A intron_variant KIRP-US 12 121881832 121881832 single base substitution G A synonymous_variant L180L 538C>T KIRP-US 12 121881832 121881832 single base substitution G A synonymous_variant L781L 2341C>T KIRP-US 12 121881832 121881832 single base substitution G A synonymous_variant L812L 2434C>T KIRP-US 12 121881832 121881832 single base substitution G A upstream_gene_variant KIRP-US 12 121881833 121881833 single base substitution C A exon_variant KIRP-US 12 121881833 121881833 single base substitution C A intron_variant KIRP-US 12 121881833 121881833 single base substitution C A missense_variant E179D 537G>T KIRP-US 12 121881833 121881833 single base substitution C A missense_variant E780D 2340G>T KIRP-US 12 121881833 121881833 single base substitution C A missense_variant E811D 2433G>T KIRP-US 12 121881833 121881833 single base substitution C A upstream_gene_variant KIRP-US 12 121947832 121947832 single base substitution C T 3_prime_UTR_variant KIRP-US 12 121947832 121947832 single base substitution C T downstream_gene_variant KIRP-US 12 121947832 121947832 single base substitution C T exon_variant KIRP-US 12 121947832 121947832 single base substitution C T synonymous_variant R164R 492G>A KIRP-US 12 121947832 121947832 single base substitution C T synonymous_variant R278R 834G>A KIRP-US 12 121947832 121947832 single base substitution C T synonymous_variant R305R 915G>A KIRP-US 12 121947832 121947832 single base substitution C T synonymous_variant R358R 1074G>A KIRP-US 12 121947832 121947832 single base substitution C T synonymous_variant R364R 1092G>A KIRP-US 12 121947832 121947832 single base substitution C T synonymous_variant R395R 1185G>A KIRP-US 12 121947832 121947832 single base substitution C T synonymous_variant R97R 291G>A KIRP-US 12 121947832 121947832 single base substitution C T upstream_gene_variant KIRP-US 12 122016841 122016841 single base substitution T C 5_prime_UTR_variant KIRP-US 12 122016841 122016841 single base substitution T C exon_variant KIRP-US 12 122016841 122016841 single base substitution T C missense_variant D15G 44A>G KIRP-US 12 122016841 122016841 single base substitution T C missense_variant D46G 137A>G KIRP-US 12 122016841 122016841 single base substitution T C missense_variant D9G 26A>G LAML-KR 12 121869700 121869700 single base substitution G T intron_variant LAML-KR 12 121882098 121882098 single base substitution T G intron_variant LAML-KR 12 121882098 121882098 single base substitution T G upstream_gene_variant LAML-KR 12 121916673 121916673 single base substitution G T intron_variant LAML-KR 12 121916677 121916677 single base substitution G T intron_variant LAML-KR 12 121949195 121949195 single base substitution G T downstream_gene_variant LAML-KR 12 121949195 121949195 single base substitution G T intron_variant LAML-KR 12 121949195 121949195 single base substitution G T upstream_gene_variant LAML-KR 12 121955903 121955903 single base substitution T C downstream_gene_variant LAML-KR 12 121955903 121955903 single base substitution T C intron_variant LAML-KR 12 122002241 122002241 single base substitution A T intron_variant LAML-KR 12 122017886 122017886 single base substitution C A intron_variant LAML-KR 12 122017886 122017886 single base substitution C A upstream_gene_variant LAML-KR 12 122017889 122017889 single base substitution A T intron_variant LAML-KR 12 122017889 122017889 single base substitution A T upstream_gene_variant LGG-US 12 122012481 122012481 single base substitution A C exon_variant LGG-US 12 122012481 122012481 single base substitution A C missense_variant F123C 368T>G LGG-US 12 122012481 122012481 single base substitution A C missense_variant F6C 17T>G LGG-US 12 122012481 122012481 single base substitution A C missense_variant F86C 257T>G LGG-US 12 122012481 122012481 single base substitution A C missense_variant F92C 275T>G LICA-CN 12 121881938 121881938 single base substitution G A exon_variant LICA-CN 12 121881938 121881938 single base substitution G A intron_variant LICA-CN 12 121881938 121881938 single base substitution G A synonymous_variant R144R 432C>T LICA-CN 12 121881938 121881938 single base substitution G A synonymous_variant R745R 2235C>T LICA-CN 12 121881938 121881938 single base substitution G A synonymous_variant R776R 2328C>T LICA-CN 12 121881938 121881938 single base substitution G A upstream_gene_variant LICA-CN 12 121881939 121881939 single base substitution C G exon_variant LICA-CN 12 121881939 121881939 single base substitution C G intron_variant LICA-CN 12 121881939 121881939 single base substitution C G missense_variant R144P 431G>C LICA-CN 12 121881939 121881939 single base substitution C G missense_variant R745P 2234G>C LICA-CN 12 121881939 121881939 single base substitution C G missense_variant R776P 2327G>C LICA-CN 12 121881939 121881939 single base substitution C G upstream_gene_variant LICA-CN 12 121970843 121970843 single base substitution T A 3_prime_UTR_variant LICA-CN 12 121970843 121970843 single base substitution T A 5_prime_UTR_variant LICA-CN 12 121970843 121970843 single base substitution T A exon_variant LICA-CN 12 121970843 121970843 single base substitution T A intron_variant LICA-CN 12 121970843 121970843 single base substitution T A missense_variant T150S 448A>T LICA-CN 12 121970843 121970843 single base substitution T A missense_variant T230S 688A>T LICA-CN 12 121970843 121970843 single base substitution T A missense_variant T236S 706A>T LICA-CN 12 121970843 121970843 single base substitution T A missense_variant T267S 799A>T LICA-CN 12 121970843 121970843 single base substitution T A missense_variant T36S 106A>T LICA-FR 12 121862714 121862714 single base substitution A C downstream_gene_variant LICA-FR 12 121872841 121872841 deletion of <=200bp A - downstream_gene_variant LICA-FR 12 121872841 121872841 deletion of <=200bp A - intron_variant LICA-FR 12 121915602 121915602 single base substitution A C intron_variant LICA-FR 12 121924488 121924488 single base substitution C G intron_variant LICA-FR 12 121934465 121934465 single base substitution T G intron_variant LICA-FR 12 121965584 121965584 single base substitution T G intron_variant LICA-FR 12 121965584 121965584 single base substitution T G upstream_gene_variant LICA-FR 12 121987510 121987510 insertion of <=200bp - CCCATTTAAAAAGGGGCAAGGCTACCCAACTCCAGCTTACCTCCTATGGGG 3_prime_UTR_variant LICA-FR 12 121987510 121987510 insertion of <=200bp - CCCATTTAAAAAGGGGCAAGGCTACCCAACTCCAGCTTACCTCCTATGGGG exon_variant LICA-FR 12 121987510 121987510 insertion of <=200bp - CCCATTTAAAAAGGGGCAAGGCTACCCAACTCCAGCTTACCTCCTATGGGG stop_gained N107NPIGGKLELGSLAPF*MG LICA-FR 12 121987510 121987510 insertion of <=200bp - CCCATTTAAAAAGGGGCAAGGCTACCCAACTCCAGCTTACCTCCTATGGGG stop_gained N113NPIGGKLELGSLAPF*MG LICA-FR 12 121987510 121987510 insertion of <=200bp - CCCATTTAAAAAGGGGCAAGGCTACCCAACTCCAGCTTACCTCCTATGGGG stop_gained N144NPIGGKLELGSLAPF*MG LICA-FR 12 121987510 121987510 insertion of <=200bp - CCCATTTAAAAAGGGGCAAGGCTACCCAACTCCAGCTTACCTCCTATGGGG stop_gained N27NPIGGKLELGSLAPF*MG LICA-FR 12 122006772 122006774 deletion of <=200bp AAA - intron_variant LIHC-US 12 121878722 121878722 single base substitution G T downstream_gene_variant LIHC-US 12 121878722 121878722 single base substitution G T exon_variant LIHC-US 12 121878722 121878722 single base substitution G T intron_variant LIHC-US 12 121878722 121878722 single base substitution G T missense_variant S1100R 3300C>A LIHC-US 12 121878722 121878722 single base substitution G T missense_variant S1169R 3507C>A LIHC-US 12 121878722 121878722 single base substitution G T missense_variant S537R 1611C>A LIHC-US 12 121947800 121947800 single base substitution G T 3_prime_UTR_variant LIHC-US 12 121947800 121947800 single base substitution G T downstream_gene_variant LIHC-US 12 121947800 121947800 single base substitution G T exon_variant LIHC-US 12 121947800 121947800 single base substitution G T missense_variant S108Y 323C>A LIHC-US 12 121947800 121947800 single base substitution G T missense_variant S289Y 866C>A LIHC-US 12 121947800 121947800 single base substitution G T missense_variant S316Y 947C>A LIHC-US 12 121947800 121947800 single base substitution G T missense_variant S369Y 1106C>A LIHC-US 12 121947800 121947800 single base substitution G T missense_variant S375Y 1124C>A LIHC-US 12 121947800 121947800 single base substitution G T missense_variant S406Y 1217C>A LIHC-US 12 121947800 121947800 single base substitution G T upstream_gene_variant LINC-JP 12 121867864 121867864 single base substitution A G 3_prime_UTR_variant LINC-JP 12 121867864 121867864 single base substitution A G exon_variant LINC-JP 12 121870265 121870265 single base substitution A C intron_variant LINC-JP 12 121878876 121878876 single base substitution G T downstream_gene_variant LINC-JP 12 121878876 121878876 single base substitution G T exon_variant LINC-JP 12 121878876 121878876 single base substitution G T intron_variant LINC-JP 12 121878876 121878876 single base substitution G T missense_variant P1080T 3238C>A LINC-JP 12 121878876 121878876 single base substitution G T missense_variant P1149T 3445C>A LINC-JP 12 121878876 121878876 single base substitution G T missense_variant P517T 1549C>A LINC-JP 12 121879611 121879611 single base substitution C T downstream_gene_variant LINC-JP 12 121879611 121879611 single base substitution C T intron_variant LINC-JP 12 121879611 121879611 single base substitution C T upstream_gene_variant LINC-JP 12 121880021 121880021 single base substitution T A downstream_gene_variant LINC-JP 12 121880021 121880021 single base substitution T A exon_variant LINC-JP 12 121880021 121880021 single base substitution T A intron_variant LINC-JP 12 121880021 121880021 single base substitution T A missense_variant S1006C 3016A>T LINC-JP 12 121880021 121880021 single base substitution T A missense_variant S1075C 3223A>T LINC-JP 12 121880021 121880021 single base substitution T A missense_variant S443C 1327A>T LINC-JP 12 121880021 121880021 single base substitution T A upstream_gene_variant LINC-JP 12 121880862 121880862 single base substitution T G downstream_gene_variant LINC-JP 12 121880862 121880862 single base substitution T G exon_variant LINC-JP 12 121880862 121880862 single base substitution T G intron_variant LINC-JP 12 121880862 121880862 single base substitution T G upstream_gene_variant LINC-JP 12 121882206 121882206 insertion of <=200bp - C intron_variant LINC-JP 12 121882206 121882206 insertion of <=200bp - C upstream_gene_variant LINC-JP 12 121888377 121888377 single base substitution C G intron_variant LINC-JP 12 121903939 121903939 insertion of <=200bp - A intron_variant LINC-JP 12 121906455 121906455 single base substitution C T exon_variant LINC-JP 12 121906455 121906455 single base substitution C T intron_variant LINC-JP 12 121916308 121916308 single base substitution T C intron_variant LINC-JP 12 121918425 121918425 single base substitution T G intron_variant LINC-JP 12 121918785 121918785 single base substitution C T intron_variant LINC-JP 12 121930945 121930945 single base substitution A T downstream_gene_variant LINC-JP 12 121930945 121930945 single base substitution A T intron_variant LINC-JP 12 121940633 121940633 single base substitution C A intron_variant LINC-JP 12 121950992 121950992 single base substitution T G downstream_gene_variant LINC-JP 12 121950992 121950992 single base substitution T G intron_variant LINC-JP 12 121950992 121950992 single base substitution T G upstream_gene_variant LINC-JP 12 121965287 121965287 single base substitution C T intron_variant LINC-JP 12 121965287 121965287 single base substitution C T upstream_gene_variant LINC-JP 12 121977160 121977160 single base substitution C T intron_variant LINC-JP 12 121977160 121977160 single base substitution C T upstream_gene_variant LINC-JP 12 121983329 121983329 deletion of <=200bp T - intron_variant LINC-JP 12 121986817 121986817 single base substitution G A 3_prime_UTR_variant LINC-JP 12 121986817 121986817 single base substitution G A exon_variant LINC-JP 12 121986817 121986817 single base substitution G A synonymous_variant N179N 537C>T LINC-JP 12 121986817 121986817 single base substitution G A synonymous_variant N185N 555C>T LINC-JP 12 121986817 121986817 single base substitution G A synonymous_variant N216N 648C>T LINC-JP 12 121986817 121986817 single base substitution G A synonymous_variant N99N 297C>T LINC-JP 12 121991557 121991557 single base substitution A C intron_variant LINC-JP 12 121991557 121991557 single base substitution A C upstream_gene_variant LINC-JP 12 122013566 122013566 single base substitution G A intron_variant LINC-JP 12 122018158 122018158 deletion of <=200bp G - 5_prime_UTR_variant LINC-JP 12 122018158 122018158 deletion of <=200bp G - intron_variant LINC-JP 12 122018158 122018158 deletion of <=200bp G - upstream_gene_variant LIRI-JP 12 121862497 121862497 single base substitution G A downstream_gene_variant LIRI-JP 12 121862629 121862629 single base substitution G T downstream_gene_variant LIRI-JP 12 121867747 121867747 single base substitution T C 3_prime_UTR_variant LIRI-JP 12 121867747 121867747 single base substitution T C exon_variant LIRI-JP 12 121867932 121867932 single base substitution A G 3_prime_UTR_variant LIRI-JP 12 121867932 121867932 single base substitution A G exon_variant LIRI-JP 12 121867932 121867932 single base substitution A G missense_variant L1262S 3785T>C LIRI-JP 12 121870588 121870588 single base substitution A C intron_variant LIRI-JP 12 121870905 121870905 single base substitution T A intron_variant LIRI-JP 12 121870917 121870917 single base substitution T C intron_variant LIRI-JP 12 121876244 121876244 single base substitution A G downstream_gene_variant LIRI-JP 12 121876244 121876244 single base substitution A G intron_variant LIRI-JP 12 121877979 121877979 single base substitution T C downstream_gene_variant LIRI-JP 12 121877979 121877979 single base substitution T C exon_variant LIRI-JP 12 121877979 121877979 single base substitution T C intron_variant LIRI-JP 12 121879823 121879823 single base substitution T C downstream_gene_variant LIRI-JP 12 121879823 121879823 single base substitution T C intron_variant LIRI-JP 12 121879823 121879823 single base substitution T C upstream_gene_variant LIRI-JP 12 121883131 121883131 single base substitution T A exon_variant LIRI-JP 12 121883131 121883131 single base substitution T A intron_variant LIRI-JP 12 121883131 121883131 single base substitution T A missense_variant M52L 154A>T LIRI-JP 12 121883131 121883131 single base substitution T A missense_variant M653L 1957A>T LIRI-JP 12 121883131 121883131 single base substitution T A missense_variant M684L 2050A>T LIRI-JP 12 121883131 121883131 single base substitution T A upstream_gene_variant LIRI-JP 12 121887879 121887879 single base substitution C A intron_variant LIRI-JP 12 121889288 121889288 single base substitution G A intron_variant LIRI-JP 12 121890968 121890968 single base substitution G C 3_prime_UTR_variant LIRI-JP 12 121890968 121890968 single base substitution G C exon_variant LIRI-JP 12 121890968 121890968 single base substitution G C synonymous_variant G521G 1563C>G LIRI-JP 12 121890968 121890968 single base substitution G C synonymous_variant G607G 1821C>G LIRI-JP 12 121890968 121890968 single base substitution G C synonymous_variant G638G 1914C>G LIRI-JP 12 121890968 121890968 single base substitution G C synonymous_variant G6G 18C>G LIRI-JP 12 121892695 121892695 single base substitution C A intron_variant LIRI-JP 12 121901056 121901056 single base substitution T C intron_variant LIRI-JP 12 121902906 121902906 single base substitution A G intron_variant LIRI-JP 12 121905874 121905874 single base substitution C T exon_variant LIRI-JP 12 121905874 121905874 single base substitution C T intron_variant LIRI-JP 12 121906386 121906386 single base substitution A G exon_variant LIRI-JP 12 121906386 121906386 single base substitution A G intron_variant LIRI-JP 12 121908605 121908612 deletion of <=200bp TAATTCTG - intron_variant LIRI-JP 12 121908605 121908612 deletion of <=200bp TAATTCTG - upstream_gene_variant LIRI-JP 12 121909324 121909324 single base substitution C A intron_variant LIRI-JP 12 121909324 121909324 single base substitution C A upstream_gene_variant LIRI-JP 12 121909720 121909720 single base substitution T G intron_variant LIRI-JP 12 121909720 121909720 single base substitution T G upstream_gene_variant LIRI-JP 12 121909782 121909782 single base substitution C T intron_variant LIRI-JP 12 121909782 121909782 single base substitution C T upstream_gene_variant LIRI-JP 12 121911718 121911718 single base substitution A G intron_variant LIRI-JP 12 121911718 121911718 single base substitution A G upstream_gene_variant LIRI-JP 12 121920153 121920153 single base substitution C A intron_variant LIRI-JP 12 121920443 121920443 single base substitution C T intron_variant LIRI-JP 12 121924648 121924648 single base substitution C T intron_variant LIRI-JP 12 121931122 121931122 single base substitution T C downstream_gene_variant LIRI-JP 12 121931122 121931122 single base substitution T C intron_variant LIRI-JP 12 121939453 121939453 single base substitution T C intron_variant LIRI-JP 12 121939499 121939499 single base substitution C T intron_variant LIRI-JP 12 121939939 121939939 single base substitution C T intron_variant LIRI-JP 12 121943140 121943140 single base substitution C T downstream_gene_variant LIRI-JP 12 121943140 121943140 single base substitution C T intron_variant LIRI-JP 12 121954293 121954293 single base substitution C T 3_prime_UTR_variant LIRI-JP 12 121954293 121954293 single base substitution C T downstream_gene_variant LIRI-JP 12 121954293 121954293 single base substitution C T intron_variant LIRI-JP 12 121954293 121954293 single base substitution C T missense_variant G10E 29G>A LIRI-JP 12 121956628 121956628 single base substitution C A downstream_gene_variant LIRI-JP 12 121956628 121956628 single base substitution C A intron_variant LIRI-JP 12 121957469 121957469 single base substitution T C downstream_gene_variant LIRI-JP 12 121957469 121957469 single base substitution T C intron_variant LIRI-JP 12 121957568 121957568 single base substitution A T downstream_gene_variant LIRI-JP 12 121957568 121957568 single base substitution A T intron_variant LIRI-JP 12 121957809 121957809 single base substitution C T downstream_gene_variant LIRI-JP 12 121957809 121957809 single base substitution C T intron_variant LIRI-JP 12 121959837 121959837 single base substitution C A intron_variant LIRI-JP 12 121960140 121960140 single base substitution G C intron_variant LIRI-JP 12 121961684 121961684 single base substitution C T intron_variant LIRI-JP 12 121964358 121964358 single base substitution T C intron_variant LIRI-JP 12 121964358 121964358 single base substitution T C upstream_gene_variant LIRI-JP 12 121966664 121966664 single base substitution G A downstream_gene_variant LIRI-JP 12 121966664 121966664 single base substitution G A intron_variant LIRI-JP 12 121966664 121966664 single base substitution G A upstream_gene_variant LIRI-JP 12 121968994 121968996 deletion of <=200bp AGG - downstream_gene_variant LIRI-JP 12 121968994 121968996 deletion of <=200bp AGG - intron_variant LIRI-JP 12 121969101 121969101 single base substitution C A downstream_gene_variant LIRI-JP 12 121969101 121969101 single base substitution C A intron_variant LIRI-JP 12 121969655 121969655 single base substitution C A downstream_gene_variant LIRI-JP 12 121969655 121969655 single base substitution C A intron_variant LIRI-JP 12 121970654 121970654 single base substitution C A downstream_gene_variant LIRI-JP 12 121970654 121970654 single base substitution C A intron_variant LIRI-JP 12 121971802 121971802 single base substitution G T intron_variant LIRI-JP 12 121972162 121972162 single base substitution G A intron_variant LIRI-JP 12 121973298 121973298 single base substitution G C intron_variant LIRI-JP 12 121973298 121973298 single base substitution G C upstream_gene_variant LIRI-JP 12 121973598 121973598 single base substitution T C intron_variant LIRI-JP 12 121973598 121973598 single base substitution T C upstream_gene_variant LIRI-JP 12 121979975 121979975 single base substitution G A intron_variant LIRI-JP 12 121979975 121979975 single base substitution G A upstream_gene_variant LIRI-JP 12 121980723 121980723 single base substitution T C intron_variant LIRI-JP 12 121985502 121985502 single base substitution C G intron_variant LIRI-JP 12 121988354 121988354 single base substitution C T intron_variant LIRI-JP 12 121988354 121988354 single base substitution C T upstream_gene_variant LIRI-JP 12 121989054 121989054 single base substitution C G intron_variant LIRI-JP 12 121989054 121989054 single base substitution C G upstream_gene_variant LIRI-JP 12 121991426 121991426 single base substitution C A intron_variant LIRI-JP 12 121991426 121991426 single base substitution C A upstream_gene_variant LIRI-JP 12 121991889 121991889 single base substitution G C intron_variant LIRI-JP 12 121991889 121991889 single base substitution G C upstream_gene_variant LIRI-JP 12 121999230 121999230 single base substitution C T intron_variant LIRI-JP 12 122001527 122001527 single base substitution C A intron_variant LIRI-JP 12 122001934 122001934 single base substitution C A intron_variant LIRI-JP 12 122002110 122002110 single base substitution C G intron_variant LIRI-JP 12 122003767 122003767 single base substitution G C intron_variant LIRI-JP 12 122005392 122005392 single base substitution T A intron_variant LIRI-JP 12 122005393 122005393 single base substitution C A intron_variant LIRI-JP 12 122005581 122005581 single base substitution T A intron_variant LIRI-JP 12 122005750 122005750 single base substitution C T intron_variant LIRI-JP 12 122005842 122005842 single base substitution C T intron_variant LIRI-JP 12 122006066 122006066 single base substitution C T intron_variant LIRI-JP 12 122007527 122007527 single base substitution A G downstream_gene_variant LIRI-JP 12 122007527 122007527 single base substitution A G intron_variant LIRI-JP 12 122007793 122007793 single base substitution G T downstream_gene_variant LIRI-JP 12 122007793 122007793 single base substitution G T intron_variant LIRI-JP 12 122009844 122009844 single base substitution C T downstream_gene_variant LIRI-JP 12 122009844 122009844 single base substitution C T intron_variant LIRI-JP 12 122012329 122012329 single base substitution G C exon_variant LIRI-JP 12 122012329 122012329 single base substitution G C intron_variant LIRI-JP 12 122012497 122012497 single base substitution T C missense_variant M118V 352A>G LIRI-JP 12 122012497 122012497 single base substitution T C missense_variant M81V 241A>G LIRI-JP 12 122012497 122012497 single base substitution T C missense_variant M87V 259A>G LIRI-JP 12 122012497 122012497 single base substitution T C splice_region_variant LIRI-JP 12 122012497 122012497 single base substitution T C start_lost M1V 1A>G LIRI-JP 12 122013747 122013747 single base substitution C T exon_variant LIRI-JP 12 122013747 122013747 single base substitution C T intron_variant LIRI-JP 12 122013747 122013747 single base substitution C T missense_variant V60I 178G>A LIRI-JP 12 122013747 122013747 single base substitution C T missense_variant V66I 196G>A LIRI-JP 12 122013747 122013747 single base substitution C T missense_variant V97I 289G>A LIRI-JP 12 122013822 122013822 single base substitution G A intron_variant LIRI-JP 12 122014011 122014011 single base substitution C A intron_variant LIRI-JP 12 122015183 122015183 single base substitution C A intron_variant LIRI-JP 12 122016106 122016106 single base substitution T A intron_variant LIRI-JP 12 122018740 122018740 deletion of <=200bp T - 5_prime_UTR_variant LIRI-JP 12 122018740 122018740 deletion of <=200bp T - exon_variant LIRI-JP 12 122018740 122018740 deletion of <=200bp T - frameshift_variant K26 LIRI-JP 12 122018740 122018740 deletion of <=200bp T - upstream_gene_variant LIRI-JP 12 122020352 122020352 single base substitution A G upstream_gene_variant LIRI-JP 12 122021284 122021284 single base substitution C A upstream_gene_variant LIRI-JP 12 122023233 122023233 single base substitution C T upstream_gene_variant LIRI-JP 12 122023245 122023245 single base substitution G A upstream_gene_variant LIRI-JP 12 122023674 122023674 single base substitution A C upstream_gene_variant LUSC-KR 12 121866876 121866876 single base substitution C G downstream_gene_variant LUSC-KR 12 121866985 121866985 single base substitution T G 3_prime_UTR_variant LUSC-KR 12 121866985 121866985 single base substitution T G downstream_gene_variant LUSC-KR 12 121878659 121878659 single base substitution C T downstream_gene_variant LUSC-KR 12 121878659 121878659 single base substitution C T exon_variant LUSC-KR 12 121878659 121878659 single base substitution C T intron_variant LUSC-KR 12 121878659 121878659 single base substitution C T synonymous_variant Q1121Q 3363G>A LUSC-KR 12 121878659 121878659 single base substitution C T synonymous_variant Q1190Q 3570G>A LUSC-KR 12 121878659 121878659 single base substitution C T synonymous_variant Q558Q 1674G>A LUSC-KR 12 121879111 121879111 single base substitution G C downstream_gene_variant LUSC-KR 12 121879111 121879111 single base substitution G C intron_variant LUSC-KR 12 121879111 121879111 single base substitution G C upstream_gene_variant LUSC-KR 12 121882372 121882372 single base substitution G A exon_variant LUSC-KR 12 121882372 121882372 single base substitution G A intron_variant LUSC-KR 12 121882372 121882372 single base substitution G A upstream_gene_variant LUSC-KR 12 121883820 121883820 single base substitution G A intron_variant LUSC-KR 12 121883820 121883820 single base substitution G A upstream_gene_variant LUSC-KR 12 121885571 121885571 single base substitution A G intron_variant LUSC-KR 12 121890926 121890926 single base substitution G A 3_prime_UTR_variant LUSC-KR 12 121890926 121890926 single base substitution G A exon_variant LUSC-KR 12 121890926 121890926 single base substitution G A synonymous_variant I20I 60C>T LUSC-KR 12 121890926 121890926 single base substitution G A synonymous_variant I535I 1605C>T LUSC-KR 12 121890926 121890926 single base substitution G A synonymous_variant I621I 1863C>T LUSC-KR 12 121890926 121890926 single base substitution G A synonymous_variant I652I 1956C>T LUSC-KR 12 121891060 121891060 single base substitution G A 3_prime_UTR_variant LUSC-KR 12 121891060 121891060 single base substitution G A 5_prime_UTR_variant LUSC-KR 12 121891060 121891060 single base substitution G A exon_variant LUSC-KR 12 121891060 121891060 single base substitution G A missense_variant R491W 1471C>T LUSC-KR 12 121891060 121891060 single base substitution G A missense_variant R577W 1729C>T LUSC-KR 12 121891060 121891060 single base substitution G A missense_variant R608W 1822C>T LUSC-KR 12 121895080 121895080 single base substitution T A intron_variant LUSC-KR 12 121897820 121897820 single base substitution T C intron_variant LUSC-KR 12 121909025 121909025 single base substitution C A intron_variant LUSC-KR 12 121909025 121909025 single base substitution C A upstream_gene_variant LUSC-KR 12 121912244 121912244 single base substitution G A intron_variant LUSC-KR 12 121912244 121912244 single base substitution G A upstream_gene_variant LUSC-KR 12 121916673 121916673 single base substitution G T intron_variant LUSC-KR 12 121916677 121916677 single base substitution G T intron_variant LUSC-KR 12 121923144 121923144 single base substitution A G intron_variant LUSC-KR 12 121933083 121933083 single base substitution C G intron_variant LUSC-KR 12 121933345 121933345 single base substitution C T intron_variant LUSC-KR 12 121945401 121945401 single base substitution C T downstream_gene_variant LUSC-KR 12 121945401 121945401 single base substitution C T intron_variant LUSC-KR 12 121947873 121947873 single base substitution G A downstream_gene_variant LUSC-KR 12 121947873 121947873 single base substitution G A intron_variant LUSC-KR 12 121947873 121947873 single base substitution G A upstream_gene_variant LUSC-KR 12 121948069 121948069 single base substitution C G downstream_gene_variant LUSC-KR 12 121948069 121948069 single base substitution C G intron_variant LUSC-KR 12 121948069 121948069 single base substitution C G upstream_gene_variant LUSC-KR 12 121951757 121951757 single base substitution C G downstream_gene_variant LUSC-KR 12 121951757 121951757 single base substitution C G intron_variant LUSC-KR 12 121951757 121951757 single base substitution C G upstream_gene_variant LUSC-KR 12 121953312 121953312 single base substitution C A downstream_gene_variant LUSC-KR 12 121953312 121953312 single base substitution C A intron_variant LUSC-KR 12 121953478 121953478 single base substitution C A downstream_gene_variant LUSC-KR 12 121953478 121953478 single base substitution C A intron_variant LUSC-KR 12 121954112 121954112 single base substitution G A downstream_gene_variant LUSC-KR 12 121954112 121954112 single base substitution G A intron_variant LUSC-KR 12 121956234 121956234 single base substitution C T downstream_gene_variant LUSC-KR 12 121956234 121956234 single base substitution C T intron_variant LUSC-KR 12 121959398 121959398 single base substitution C A intron_variant LUSC-KR 12 121960278 121960278 single base substitution T C intron_variant LUSC-KR 12 121964130 121964130 single base substitution T C intron_variant LUSC-KR 12 121964130 121964130 single base substitution T C upstream_gene_variant LUSC-KR 12 121966747 121966747 single base substitution G A downstream_gene_variant LUSC-KR 12 121966747 121966747 single base substitution G A intron_variant LUSC-KR 12 121966747 121966747 single base substitution G A upstream_gene_variant LUSC-KR 12 121966881 121966881 single base substitution C G downstream_gene_variant LUSC-KR 12 121966881 121966881 single base substitution C G intron_variant LUSC-KR 12 121966881 121966881 single base substitution C G upstream_gene_variant LUSC-KR 12 121970593 121970593 single base substitution G C downstream_gene_variant LUSC-KR 12 121970593 121970593 single base substitution G C intron_variant LUSC-KR 12 121971696 121971696 single base substitution C A intron_variant LUSC-KR 12 121973160 121973160 single base substitution T A intron_variant LUSC-KR 12 121973160 121973160 single base substitution T A upstream_gene_variant LUSC-KR 12 121976131 121976131 single base substitution C G intron_variant LUSC-KR 12 121976131 121976131 single base substitution C G upstream_gene_variant LUSC-KR 12 121981426 121981426 single base substitution A T intron_variant LUSC-KR 12 121983739 121983739 single base substitution A C intron_variant LUSC-KR 12 121988353 121988353 single base substitution C G intron_variant LUSC-KR 12 121988353 121988353 single base substitution C G upstream_gene_variant LUSC-KR 12 121995415 121995415 single base substitution G C intron_variant LUSC-KR 12 121999512 121999512 single base substitution C G intron_variant LUSC-KR 12 122002483 122002483 single base substitution T C intron_variant LUSC-KR 12 122004604 122004604 single base substitution G A intron_variant LUSC-KR 12 122005614 122005614 single base substitution T G intron_variant LUSC-KR 12 122006105 122006105 single base substitution G A intron_variant LUSC-KR 12 122007541 122007541 single base substitution G T downstream_gene_variant LUSC-KR 12 122007541 122007541 single base substitution G T intron_variant LUSC-KR 12 122022902 122022902 single base substitution G C upstream_gene_variant LUSC-KR 12 122023355 122023355 single base substitution G T upstream_gene_variant LUSC-US 12 121877660 121877660 single base substitution C T downstream_gene_variant LUSC-US 12 121877660 121877660 single base substitution C T intron_variant LUSC-US 12 121877660 121877660 single base substitution C T missense_variant D1208N 3622G>A LUSC-US 12 121877660 121877660 single base substitution C T missense_variant D1277N 3829G>A LUSC-US 12 121877660 121877660 single base substitution C T missense_variant D645N 1933G>A LUSC-US 12 121877660 121877660 single base substitution C T splice_region_variant LUSC-US 12 121880003 121880003 single base substitution C G downstream_gene_variant LUSC-US 12 121880003 121880003 single base substitution C G exon_variant LUSC-US 12 121880003 121880003 single base substitution C G intron_variant LUSC-US 12 121880003 121880003 single base substitution C G missense_variant D1012H 3034G>C LUSC-US 12 121880003 121880003 single base substitution C G missense_variant D1081H 3241G>C LUSC-US 12 121880003 121880003 single base substitution C G missense_variant D449H 1345G>C LUSC-US 12 121880003 121880003 single base substitution C G upstream_gene_variant LUSC-US 12 121947413 121947413 single base substitution G A 3_prime_UTR_variant LUSC-US 12 121947413 121947413 single base substitution G A 5_prime_UTR_variant LUSC-US 12 121947413 121947413 single base substitution G A downstream_gene_variant LUSC-US 12 121947413 121947413 single base substitution G A exon_variant LUSC-US 12 121947413 121947413 single base substitution G A missense_variant P418L 1253C>T LUSC-US 12 121947413 121947413 single base substitution G A missense_variant P445L 1334C>T LUSC-US 12 121947413 121947413 single base substitution G A missense_variant P498L 1493C>T LUSC-US 12 121947413 121947413 single base substitution G A missense_variant P504L 1511C>T LUSC-US 12 121947413 121947413 single base substitution G A missense_variant P535L 1604C>T LUSC-US 12 121958790 121958790 single base substitution G T downstream_gene_variant LUSC-US 12 121958790 121958790 single base substitution G T intron_variant LUSC-US 12 121958790 121958790 single base substitution G T splice_region_variant LUSC-US 12 121958890 121958890 single base substitution G A 3_prime_UTR_variant LUSC-US 12 121958890 121958890 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LUSC-US 12 121958890 121958890 single base substitution G A exon_variant LUSC-US 12 121958890 121958890 single base substitution G A intron_variant LUSC-US 12 121958890 121958890 single base substitution G A synonymous_variant A17A 51C>T LUSC-US 12 121958890 121958890 single base substitution G A synonymous_variant A198A 594C>T LUSC-US 12 121958890 121958890 single base substitution G A synonymous_variant A278A 834C>T LUSC-US 12 121958890 121958890 single base substitution G A synonymous_variant A284A 852C>T LUSC-US 12 121958890 121958890 single base substitution G A synonymous_variant A315A 945C>T LUSC-US 12 121958890 121958890 single base substitution G A synonymous_variant A84A 252C>T LUSC-US 12 121986815 121986815 single base substitution G A 3_prime_UTR_variant LUSC-US 12 121986815 121986815 single base substitution G A exon_variant LUSC-US 12 121986815 121986815 single base substitution G A missense_variant A100V 299C>T LUSC-US 12 121986815 121986815 single base substitution G A missense_variant A180V 539C>T LUSC-US 12 121986815 121986815 single base substitution G A missense_variant A186V 557C>T LUSC-US 12 121986815 121986815 single base substitution G A missense_variant A217V 650C>T LUSC-US 12 122016728 122016728 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LUSC-US 12 122016728 122016728 single base substitution C T exon_variant LUSC-US 12 122016728 122016728 single base substitution C T missense_variant V47M 139G>A LUSC-US 12 122016728 122016728 single base substitution C T missense_variant V53M 157G>A LUSC-US 12 122016728 122016728 single base substitution C T missense_variant V84M 250G>A MALY-DE 12 121864677 121864677 single base substitution T C downstream_gene_variant MALY-DE 12 121866983 121866983 single base substitution G A 3_prime_UTR_variant MALY-DE 12 121866983 121866983 single base substitution G A downstream_gene_variant MALY-DE 12 121871531 121871531 single base substitution T C intron_variant MALY-DE 12 121878410 121878410 deletion of <=200bp C - downstream_gene_variant MALY-DE 12 121878410 121878410 deletion of <=200bp C - exon_variant MALY-DE 12 121878410 121878410 deletion of <=200bp C - intron_variant MALY-DE 12 121879953 121879953 single base substitution C A downstream_gene_variant MALY-DE 12 121879953 121879953 single base substitution C A intron_variant MALY-DE 12 121879953 121879953 single base substitution C A splice_region_variant MALY-DE 12 121879953 121879953 single base substitution C A upstream_gene_variant MALY-DE 12 121881086 121881086 single base substitution G T downstream_gene_variant MALY-DE 12 121881086 121881086 single base substitution G T exon_variant MALY-DE 12 121881086 121881086 single base substitution G T intron_variant MALY-DE 12 121881086 121881086 single base substitution G T upstream_gene_variant MALY-DE 12 121885117 121885117 single base substitution T C intron_variant MALY-DE 12 121886176 121886176 single base substitution A G intron_variant MALY-DE 12 121890145 121890145 deletion of <=200bp C - intron_variant MALY-DE 12 121891060 121891060 single base substitution G A 3_prime_UTR_variant MALY-DE 12 121891060 121891060 single base substitution G A 5_prime_UTR_variant MALY-DE 12 121891060 121891060 single base substitution G A exon_variant MALY-DE 12 121891060 121891060 single base substitution G A missense_variant R491W 1471C>T MALY-DE 12 121891060 121891060 single base substitution G A missense_variant R577W 1729C>T MALY-DE 12 121891060 121891060 single base substitution G A missense_variant R608W 1822C>T MALY-DE 12 121894767 121894767 single base substitution T C intron_variant MALY-DE 12 121895543 121895544 deletion of <=200bp AC - intron_variant MALY-DE 12 121908071 121908071 single base substitution T C exon_variant MALY-DE 12 121908071 121908071 single base substitution T C intron_variant MALY-DE 12 121910740 121910740 single base substitution T A intron_variant MALY-DE 12 121910740 121910740 single base substitution T A upstream_gene_variant MALY-DE 12 121915419 121915419 single base substitution C T intron_variant MALY-DE 12 121915435 121915435 single base substitution C T intron_variant MALY-DE 12 121921405 121921405 single base substitution G A intron_variant MALY-DE 12 121934323 121934324 deletion of <=200bp AG - intron_variant MALY-DE 12 121937502 121937502 single base substitution G A intron_variant MALY-DE 12 121937569 121937569 single base substitution A T intron_variant MALY-DE 12 121941097 121941097 single base substitution T G intron_variant MALY-DE 12 121946179 121946179 single base substitution G A downstream_gene_variant MALY-DE 12 121946179 121946179 single base substitution G A intron_variant MALY-DE 12 121954215 121954215 single base substitution A T 3_prime_UTR_variant MALY-DE 12 121954215 121954215 single base substitution A T downstream_gene_variant MALY-DE 12 121954215 121954215 single base substitution A T intron_variant MALY-DE 12 121962735 121962735 single base substitution G A intron_variant MALY-DE 12 121962735 121962735 single base substitution G A upstream_gene_variant MALY-DE 12 121967241 121967241 single base substitution A G downstream_gene_variant MALY-DE 12 121967241 121967241 single base substitution A G intron_variant MALY-DE 12 121967241 121967241 single base substitution A G upstream_gene_variant MALY-DE 12 121968497 121968497 single base substitution C G downstream_gene_variant MALY-DE 12 121968497 121968497 single base substitution C G intron_variant MALY-DE 12 121970755 121970755 single base substitution T C 3_prime_UTR_variant MALY-DE 12 121970755 121970755 single base substitution T C 5_prime_UTR_variant MALY-DE 12 121970755 121970755 single base substitution T C exon_variant MALY-DE 12 121970755 121970755 single base substitution T C intron_variant MALY-DE 12 121970755 121970755 single base substitution T C missense_variant Q179R 536A>G MALY-DE 12 121970755 121970755 single base substitution T C missense_variant Q259R 776A>G MALY-DE 12 121970755 121970755 single base substitution T C missense_variant Q265R 794A>G MALY-DE 12 121970755 121970755 single base substitution T C missense_variant Q296R 887A>G MALY-DE 12 121970755 121970755 single base substitution T C missense_variant Q65R 194A>G MALY-DE 12 121971217 121971217 single base substitution G A intron_variant MALY-DE 12 121976682 121976682 single base substitution A T intron_variant MALY-DE 12 121976682 121976682 single base substitution A T upstream_gene_variant MALY-DE 12 121977284 121977284 single base substitution A G intron_variant MALY-DE 12 121977284 121977284 single base substitution A G upstream_gene_variant MALY-DE 12 121978789 121978789 single base substitution A G intron_variant MALY-DE 12 121978789 121978789 single base substitution A G upstream_gene_variant MALY-DE 12 121979636 121979636 single base substitution G A intron_variant MALY-DE 12 121979636 121979636 single base substitution G A upstream_gene_variant MALY-DE 12 121983596 121983596 single base substitution C T intron_variant MALY-DE 12 121988797 121988797 single base substitution A T intron_variant MALY-DE 12 121988797 121988797 single base substitution A T upstream_gene_variant MALY-DE 12 121990163 121990163 single base substitution G C intron_variant MALY-DE 12 121990163 121990163 single base substitution G C upstream_gene_variant MALY-DE 12 121993992 121993992 single base substitution T A intron_variant MALY-DE 12 122013513 122013513 single base substitution G A intron_variant MALY-DE 12 122016316 122016316 single base substitution C A intron_variant MALY-DE 12 122017086 122017086 single base substitution G A intron_variant MELA-AU 12 121863686 121863686 single base substitution C T downstream_gene_variant MELA-AU 12 121864152 121864152 single base substitution A G downstream_gene_variant MELA-AU 12 121864235 121864235 single base substitution C T downstream_gene_variant MELA-AU 12 121865583 121865583 single base substitution A C downstream_gene_variant MELA-AU 12 121866525 121866525 single base substitution C T downstream_gene_variant MELA-AU 12 121866965 121866965 single base substitution C T 3_prime_UTR_variant MELA-AU 12 121866965 121866965 single base substitution C T downstream_gene_variant MELA-AU 12 121868129 121868129 single base substitution C G 3_prime_UTR_variant MELA-AU 12 121868129 121868129 single base substitution C G exon_variant MELA-AU 12 121868129 121868129 single base substitution C G intron_variant MELA-AU 12 121868129 121868129 single base substitution C G missense_variant G1325R 3973G>C MELA-AU 12 121868129 121868129 single base substitution C G missense_variant G693R 2077G>C MELA-AU 12 121869779 121869779 single base substitution C T intron_variant MELA-AU 12 121871807 121871807 single base substitution G A intron_variant MELA-AU 12 121872105 121872105 single base substitution G T intron_variant MELA-AU 12 121874844 121874844 single base substitution C T downstream_gene_variant MELA-AU 12 121874844 121874844 single base substitution C T intron_variant MELA-AU 12 121874851 121874851 single base substitution G A downstream_gene_variant MELA-AU 12 121874851 121874851 single base substitution G A intron_variant MELA-AU 12 121875079 121875079 single base substitution G A downstream_gene_variant MELA-AU 12 121875079 121875079 single base substitution G A intron_variant MELA-AU 12 121876212 121876212 single base substitution C G downstream_gene_variant MELA-AU 12 121876212 121876212 single base substitution C G intron_variant MELA-AU 12 121876806 121876806 single base substitution C T downstream_gene_variant MELA-AU 12 121876806 121876806 single base substitution C T intron_variant MELA-AU 12 121877395 121877395 single base substitution G A downstream_gene_variant MELA-AU 12 121877395 121877395 single base substitution G A intron_variant MELA-AU 12 121878196 121878196 single base substitution A G downstream_gene_variant MELA-AU 12 121878196 121878196 single base substitution A G exon_variant MELA-AU 12 121878196 121878196 single base substitution A G intron_variant MELA-AU 12 121878210 121878210 single base substitution A G downstream_gene_variant MELA-AU 12 121878210 121878210 single base substitution A G exon_variant MELA-AU 12 121878210 121878210 single base substitution A G intron_variant MELA-AU 12 121878491 121878492 multiple base substitution (>=2bp and <=200bp) GA AC downstream_gene_variant MELA-AU 12 121878491 121878492 multiple base substitution (>=2bp and <=200bp) GA AC exon_variant MELA-AU 12 121878491 121878492 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 12 121878611 121878611 single base substitution C T downstream_gene_variant MELA-AU 12 121878611 121878611 single base substitution C T exon_variant MELA-AU 12 121878611 121878611 single base substitution C T intron_variant MELA-AU 12 121878611 121878611 single base substitution C T splice_region_variant MELA-AU 12 121878697 121878697 single base substitution G A downstream_gene_variant MELA-AU 12 121878697 121878697 single base substitution G A exon_variant MELA-AU 12 121878697 121878697 single base substitution G A intron_variant MELA-AU 12 121878697 121878697 single base substitution G A synonymous_variant L1109L 3325C>T MELA-AU 12 121878697 121878697 single base substitution G A synonymous_variant L1178L 3532C>T MELA-AU 12 121878697 121878697 single base substitution G A synonymous_variant L546L 1636C>T MELA-AU 12 121878704 121878704 single base substitution G A downstream_gene_variant MELA-AU 12 121878704 121878704 single base substitution G A exon_variant MELA-AU 12 121878704 121878704 single base substitution G A intron_variant MELA-AU 12 121878704 121878704 single base substitution G A synonymous_variant L1106L 3318C>T MELA-AU 12 121878704 121878704 single base substitution G A synonymous_variant L1175L 3525C>T MELA-AU 12 121878704 121878704 single base substitution G A synonymous_variant L543L 1629C>T MELA-AU 12 121879026 121879026 single base substitution T C downstream_gene_variant MELA-AU 12 121879026 121879026 single base substitution T C exon_variant MELA-AU 12 121879026 121879026 single base substitution T C intron_variant MELA-AU 12 121879026 121879026 single base substitution T C missense_variant K1030E 3088A>G MELA-AU 12 121879026 121879026 single base substitution T C missense_variant K1099E 3295A>G MELA-AU 12 121879026 121879026 single base substitution T C missense_variant K467E 1399A>G MELA-AU 12 121879041 121879041 single base substitution G A downstream_gene_variant MELA-AU 12 121879041 121879041 single base substitution G A exon_variant MELA-AU 12 121879041 121879041 single base substitution G A intron_variant MELA-AU 12 121879041 121879041 single base substitution G A splice_region_variant MELA-AU 12 121880258 121880258 single base substitution G A downstream_gene_variant MELA-AU 12 121880258 121880258 single base substitution G A exon_variant MELA-AU 12 121880258 121880258 single base substitution G A intron_variant MELA-AU 12 121880258 121880258 single base substitution G A missense_variant R364C 1090C>T MELA-AU 12 121880258 121880258 single base substitution G A missense_variant R927C 2779C>T MELA-AU 12 121880258 121880258 single base substitution G A missense_variant R996C 2986C>T MELA-AU 12 121880258 121880258 single base substitution G A upstream_gene_variant MELA-AU 12 121880262 121880263 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 121880262 121880263 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 12 121880262 121880263 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 121880262 121880263 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P362L 1085CC>TT MELA-AU 12 121880262 121880263 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P925L 2774CC>TT MELA-AU 12 121880262 121880263 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P994L 2981CC>TT MELA-AU 12 121880262 121880263 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 121880804 121880804 single base substitution G A downstream_gene_variant MELA-AU 12 121880804 121880804 single base substitution G A exon_variant MELA-AU 12 121880804 121880804 single base substitution G A intron_variant MELA-AU 12 121880804 121880804 single base substitution G A synonymous_variant F233F 699C>T MELA-AU 12 121880804 121880804 single base substitution G A synonymous_variant F796F 2388C>T MELA-AU 12 121880804 121880804 single base substitution G A synonymous_variant F865F 2595C>T MELA-AU 12 121880804 121880804 single base substitution G A upstream_gene_variant MELA-AU 12 121881194 121881195 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 121881194 121881195 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 12 121881194 121881195 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 121881194 121881195 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 121881260 121881260 single base substitution G A downstream_gene_variant MELA-AU 12 121881260 121881260 single base substitution G A exon_variant MELA-AU 12 121881260 121881260 single base substitution G A intron_variant MELA-AU 12 121881260 121881260 single base substitution G A upstream_gene_variant MELA-AU 12 121882682 121882682 single base substitution G A exon_variant MELA-AU 12 121882682 121882682 single base substitution G A intron_variant MELA-AU 12 121882682 121882682 single base substitution G A upstream_gene_variant MELA-AU 12 121883149 121883149 single base substitution C T exon_variant MELA-AU 12 121883149 121883149 single base substitution C T intron_variant MELA-AU 12 121883149 121883149 single base substitution C T missense_variant E46K 136G>A MELA-AU 12 121883149 121883149 single base substitution C T missense_variant E647K 1939G>A MELA-AU 12 121883149 121883149 single base substitution C T missense_variant E678K 2032G>A MELA-AU 12 121883149 121883149 single base substitution C T upstream_gene_variant MELA-AU 12 121883267 121883267 single base substitution A G intron_variant MELA-AU 12 121883267 121883267 single base substitution A G upstream_gene_variant MELA-AU 12 121883280 121883280 single base substitution G A intron_variant MELA-AU 12 121883280 121883280 single base substitution G A upstream_gene_variant MELA-AU 12 121883310 121883310 single base substitution C G intron_variant MELA-AU 12 121883310 121883310 single base substitution C G upstream_gene_variant MELA-AU 12 121883583 121883583 single base substitution A G intron_variant MELA-AU 12 121883583 121883583 single base substitution A G upstream_gene_variant MELA-AU 12 121883975 121883975 single base substitution G A intron_variant MELA-AU 12 121883975 121883975 single base substitution G A upstream_gene_variant MELA-AU 12 121884187 121884187 single base substitution C G intron_variant MELA-AU 12 121884434 121884434 single base substitution G A intron_variant MELA-AU 12 121884581 121884581 single base substitution A G intron_variant MELA-AU 12 121884766 121884766 single base substitution G A intron_variant MELA-AU 12 121886306 121886306 single base substitution G A intron_variant MELA-AU 12 121886706 121886706 single base substitution C T intron_variant MELA-AU 12 121886946 121886946 single base substitution G A intron_variant MELA-AU 12 121887098 121887099 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 121887099 121887099 single base substitution G A intron_variant MELA-AU 12 121887258 121887259 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 121887270 121887270 single base substitution G A intron_variant MELA-AU 12 121887466 121887466 single base substitution G A intron_variant MELA-AU 12 121888731 121888731 single base substitution C T intron_variant MELA-AU 12 121888754 121888754 single base substitution C T intron_variant MELA-AU 12 121889529 121889529 single base substitution A G intron_variant MELA-AU 12 121889949 121889949 single base substitution A T intron_variant MELA-AU 12 121890361 121890361 deletion of <=200bp C - intron_variant MELA-AU 12 121890508 121890508 single base substitution G A intron_variant MELA-AU 12 121890965 121890965 single base substitution G C 3_prime_UTR_variant MELA-AU 12 121890965 121890965 single base substitution G C exon_variant MELA-AU 12 121890965 121890965 single base substitution G C synonymous_variant P522P 1566C>G MELA-AU 12 121890965 121890965 single base substitution G C synonymous_variant P608P 1824C>G MELA-AU 12 121890965 121890965 single base substitution G C synonymous_variant P639P 1917C>G MELA-AU 12 121890965 121890965 single base substitution G C synonymous_variant P7P 21C>G MELA-AU 12 121891180 121891180 single base substitution G A intron_variant MELA-AU 12 121891208 121891208 single base substitution G A intron_variant MELA-AU 12 121891331 121891331 single base substitution G A intron_variant MELA-AU 12 121891449 121891449 single base substitution G A intron_variant MELA-AU 12 121891484 121891484 single base substitution G A intron_variant MELA-AU 12 121892759 121892759 single base substitution G A intron_variant MELA-AU 12 121893030 121893030 single base substitution T C intron_variant MELA-AU 12 121893839 121893839 single base substitution C T intron_variant MELA-AU 12 121894059 121894059 single base substitution G A intron_variant MELA-AU 12 121894736 121894736 single base substitution A C intron_variant MELA-AU 12 121895415 121895415 single base substitution G A intron_variant MELA-AU 12 121895536 121895536 single base substitution G T intron_variant MELA-AU 12 121895662 121895662 single base substitution A C intron_variant MELA-AU 12 121896100 121896100 single base substitution G A intron_variant MELA-AU 12 121896650 121896650 single base substitution G A intron_variant MELA-AU 12 121897838 121897838 single base substitution A T intron_variant MELA-AU 12 121898031 121898031 single base substitution C T intron_variant MELA-AU 12 121898431 121898431 single base substitution G A intron_variant MELA-AU 12 121898501 121898501 single base substitution G A intron_variant MELA-AU 12 121898895 121898895 single base substitution G A intron_variant MELA-AU 12 121898959 121898959 single base substitution C T intron_variant MELA-AU 12 121899206 121899206 single base substitution G A intron_variant MELA-AU 12 121899469 121899469 single base substitution A T intron_variant MELA-AU 12 121899620 121899620 single base substitution G A intron_variant MELA-AU 12 121899916 121899916 single base substitution G A intron_variant MELA-AU 12 121900156 121900156 single base substitution G A intron_variant MELA-AU 12 121902313 121902313 single base substitution G A intron_variant MELA-AU 12 121902322 121902322 single base substitution G A intron_variant MELA-AU 12 121903509 121903509 single base substitution G A intron_variant MELA-AU 12 121903651 121903651 single base substitution C T intron_variant MELA-AU 12 121906277 121906277 single base substitution A G exon_variant MELA-AU 12 121906277 121906277 single base substitution A G intron_variant MELA-AU 12 121908311 121908311 single base substitution G A exon_variant MELA-AU 12 121908311 121908311 single base substitution G A intron_variant MELA-AU 12 121908463 121908463 single base substitution G A intron_variant MELA-AU 12 121908463 121908463 single base substitution G A upstream_gene_variant MELA-AU 12 121909470 121909470 single base substitution G A intron_variant MELA-AU 12 121909470 121909470 single base substitution G A upstream_gene_variant MELA-AU 12 121909657 121909657 single base substitution G A intron_variant MELA-AU 12 121909657 121909657 single base substitution G A upstream_gene_variant MELA-AU 12 121909658 121909658 single base substitution G A intron_variant MELA-AU 12 121909658 121909658 single base substitution G A upstream_gene_variant MELA-AU 12 121909753 121909753 single base substitution C T intron_variant MELA-AU 12 121909753 121909753 single base substitution C T upstream_gene_variant MELA-AU 12 121910427 121910427 single base substitution G A intron_variant MELA-AU 12 121910427 121910427 single base substitution G A upstream_gene_variant MELA-AU 12 121910450 121910450 single base substitution G A intron_variant MELA-AU 12 121910450 121910450 single base substitution G A upstream_gene_variant MELA-AU 12 121910729 121910729 single base substitution G A intron_variant MELA-AU 12 121910729 121910729 single base substitution G A upstream_gene_variant MELA-AU 12 121910952 121910952 single base substitution G A intron_variant MELA-AU 12 121910952 121910952 single base substitution G A upstream_gene_variant MELA-AU 12 121911713 121911713 single base substitution G A intron_variant MELA-AU 12 121911713 121911713 single base substitution G A upstream_gene_variant MELA-AU 12 121911736 121911736 single base substitution G A intron_variant MELA-AU 12 121911736 121911736 single base substitution G A upstream_gene_variant MELA-AU 12 121911872 121911873 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 121911872 121911873 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 121912001 121912001 single base substitution G A intron_variant MELA-AU 12 121912001 121912001 single base substitution G A upstream_gene_variant MELA-AU 12 121912213 121912213 single base substitution G A intron_variant MELA-AU 12 121912213 121912213 single base substitution G A upstream_gene_variant MELA-AU 12 121912551 121912551 single base substitution T C intron_variant MELA-AU 12 121912551 121912551 single base substitution T C upstream_gene_variant MELA-AU 12 121912926 121912926 single base substitution G A intron_variant MELA-AU 12 121912926 121912926 single base substitution G A upstream_gene_variant MELA-AU 12 121913675 121913675 single base substitution A C intron_variant MELA-AU 12 121913826 121913827 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 121914187 121914187 single base substitution A T intron_variant MELA-AU 12 121914790 121914790 single base substitution G A intron_variant MELA-AU 12 121914844 121914844 single base substitution G A intron_variant MELA-AU 12 121915217 121915217 single base substitution T C intron_variant MELA-AU 12 121915658 121915658 single base substitution G A intron_variant MELA-AU 12 121916247 121916247 single base substitution C T intron_variant MELA-AU 12 121916259 121916259 single base substitution T C intron_variant MELA-AU 12 121917473 121917474 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 121917869 121917869 single base substitution C T intron_variant MELA-AU 12 121917969 121917970 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 121917999 121917999 single base substitution G A intron_variant MELA-AU 12 121918030 121918030 single base substitution G A intron_variant MELA-AU 12 121918694 121918694 single base substitution A T intron_variant MELA-AU 12 121918824 121918824 single base substitution G A intron_variant MELA-AU 12 121919195 121919195 single base substitution G A intron_variant MELA-AU 12 121919400 121919400 single base substitution T G intron_variant MELA-AU 12 121919446 121919446 single base substitution G A intron_variant MELA-AU 12 121919630 121919630 single base substitution G A intron_variant MELA-AU 12 121919685 121919685 single base substitution G A intron_variant MELA-AU 12 121920834 121920835 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 121921136 121921136 single base substitution C T intron_variant MELA-AU 12 121921244 121921244 single base substitution G C intron_variant MELA-AU 12 121921428 121921428 single base substitution C T intron_variant MELA-AU 12 121921800 121921800 single base substitution A T intron_variant MELA-AU 12 121921854 121921854 single base substitution G A intron_variant MELA-AU 12 121922444 121922444 single base substitution G A intron_variant MELA-AU 12 121922997 121922997 single base substitution G A intron_variant MELA-AU 12 121923190 121923190 single base substitution G A intron_variant MELA-AU 12 121924971 121924971 single base substitution A C intron_variant MELA-AU 12 121925270 121925270 single base substitution C T intron_variant MELA-AU 12 121926328 121926328 single base substitution G A intron_variant MELA-AU 12 121926331 121926331 single base substitution G A intron_variant MELA-AU 12 121926799 121926799 single base substitution G A downstream_gene_variant MELA-AU 12 121926799 121926799 single base substitution G A intron_variant MELA-AU 12 121926962 121926962 single base substitution G A downstream_gene_variant MELA-AU 12 121926962 121926962 single base substitution G A intron_variant MELA-AU 12 121926963 121926963 single base substitution G A downstream_gene_variant MELA-AU 12 121926963 121926963 single base substitution G A intron_variant MELA-AU 12 121927051 121927051 single base substitution T C downstream_gene_variant MELA-AU 12 121927051 121927051 single base substitution T C intron_variant MELA-AU 12 121927922 121927922 single base substitution G A downstream_gene_variant MELA-AU 12 121927922 121927922 single base substitution G A intron_variant MELA-AU 12 121928059 121928059 single base substitution G A downstream_gene_variant MELA-AU 12 121928059 121928059 single base substitution G A intron_variant MELA-AU 12 121928535 121928536 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 121928535 121928536 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 121929219 121929219 single base substitution C T downstream_gene_variant MELA-AU 12 121929219 121929219 single base substitution C T intron_variant MELA-AU 12 121929899 121929899 single base substitution T G downstream_gene_variant MELA-AU 12 121929899 121929899 single base substitution T G intron_variant MELA-AU 12 121929944 121929944 single base substitution G A downstream_gene_variant MELA-AU 12 121929944 121929944 single base substitution G A intron_variant MELA-AU 12 121930694 121930694 single base substitution T A downstream_gene_variant MELA-AU 12 121930694 121930694 single base substitution T A intron_variant MELA-AU 12 121931626 121931626 single base substitution G A downstream_gene_variant MELA-AU 12 121931626 121931626 single base substitution G A intron_variant MELA-AU 12 121931892 121931892 single base substitution C T 3_prime_UTR_variant MELA-AU 12 121931892 121931892 single base substitution C T intron_variant MELA-AU 12 121932415 121932415 single base substitution G A 3_prime_UTR_variant MELA-AU 12 121932415 121932415 single base substitution G A 5_prime_UTR_variant MELA-AU 12 121932415 121932415 single base substitution G A exon_variant MELA-AU 12 121932415 121932415 single base substitution G A synonymous_variant V450V 1350C>T MELA-AU 12 121932415 121932415 single base substitution G A synonymous_variant V477V 1431C>T MELA-AU 12 121932415 121932415 single base substitution G A synonymous_variant V536V 1608C>T MELA-AU 12 121932415 121932415 single base substitution G A synonymous_variant V567V 1701C>T MELA-AU 12 121933382 121933382 single base substitution G A intron_variant MELA-AU 12 121933886 121933886 single base substitution G A intron_variant MELA-AU 12 121934113 121934113 single base substitution G A intron_variant MELA-AU 12 121934201 121934201 single base substitution G A intron_variant MELA-AU 12 121934634 121934634 single base substitution G A intron_variant MELA-AU 12 121934811 121934811 single base substitution G A intron_variant MELA-AU 12 121934888 121934888 single base substitution G A intron_variant MELA-AU 12 121934960 121934961 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 121935295 121935295 single base substitution G A intron_variant MELA-AU 12 121935379 121935379 single base substitution G A intron_variant MELA-AU 12 121935914 121935914 single base substitution A T intron_variant MELA-AU 12 121935920 121935920 single base substitution A G intron_variant MELA-AU 12 121936142 121936143 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 12 121936291 121936291 single base substitution G A intron_variant MELA-AU 12 121936500 121936500 single base substitution G A intron_variant MELA-AU 12 121937379 121937379 single base substitution C T intron_variant MELA-AU 12 121937751 121937751 single base substitution C A intron_variant MELA-AU 12 121937891 121937891 single base substitution C T intron_variant MELA-AU 12 121938512 121938513 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 121938606 121938606 deletion of <=200bp A - intron_variant MELA-AU 12 121938869 121938869 single base substitution A G intron_variant MELA-AU 12 121938934 121938934 single base substitution T G intron_variant MELA-AU 12 121939029 121939029 single base substitution G A intron_variant MELA-AU 12 121940101 121940101 single base substitution G A intron_variant MELA-AU 12 121940319 121940319 single base substitution G A intron_variant MELA-AU 12 121941435 121941435 single base substitution G A intron_variant MELA-AU 12 121941478 121941478 single base substitution G A intron_variant MELA-AU 12 121941916 121941916 single base substitution G A intron_variant MELA-AU 12 121942508 121942508 single base substitution G A downstream_gene_variant MELA-AU 12 121942508 121942508 single base substitution G A intron_variant MELA-AU 12 121942628 121942628 single base substitution A G downstream_gene_variant MELA-AU 12 121942628 121942628 single base substitution A G intron_variant MELA-AU 12 121943231 121943231 single base substitution C A downstream_gene_variant MELA-AU 12 121943231 121943231 single base substitution C A intron_variant MELA-AU 12 121943408 121943408 single base substitution C T downstream_gene_variant MELA-AU 12 121943408 121943408 single base substitution C T intron_variant MELA-AU 12 121943440 121943440 single base substitution C T downstream_gene_variant MELA-AU 12 121943440 121943440 single base substitution C T intron_variant MELA-AU 12 121944412 121944412 single base substitution C T downstream_gene_variant MELA-AU 12 121944412 121944412 single base substitution C T intron_variant MELA-AU 12 121944647 121944647 single base substitution G A downstream_gene_variant MELA-AU 12 121944647 121944647 single base substitution G A intron_variant MELA-AU 12 121944723 121944723 single base substitution G A downstream_gene_variant MELA-AU 12 121944723 121944723 single base substitution G A intron_variant MELA-AU 12 121945425 121945425 single base substitution G A downstream_gene_variant MELA-AU 12 121945425 121945425 single base substitution G A intron_variant MELA-AU 12 121946240 121946240 single base substitution C T downstream_gene_variant MELA-AU 12 121946240 121946240 single base substitution C T intron_variant MELA-AU 12 121946925 121946925 single base substitution G A downstream_gene_variant MELA-AU 12 121946925 121946925 single base substitution G A intron_variant MELA-AU 12 121947395 121947395 single base substitution G A 3_prime_UTR_variant MELA-AU 12 121947395 121947395 single base substitution G A 5_prime_UTR_variant MELA-AU 12 121947395 121947395 single base substitution G A downstream_gene_variant MELA-AU 12 121947395 121947395 single base substitution G A exon_variant MELA-AU 12 121947395 121947395 single base substitution G A missense_variant P424L 1271C>T MELA-AU 12 121947395 121947395 single base substitution G A missense_variant P451L 1352C>T MELA-AU 12 121947395 121947395 single base substitution G A missense_variant P504L 1511C>T MELA-AU 12 121947395 121947395 single base substitution G A missense_variant P510L 1529C>T MELA-AU 12 121947395 121947395 single base substitution G A missense_variant P541L 1622C>T MELA-AU 12 121947408 121947409 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 12 121947408 121947409 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 12 121947408 121947409 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 121947408 121947409 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 12 121947408 121947409 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant EG419ES MELA-AU 12 121947408 121947409 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant EG446ES MELA-AU 12 121947408 121947409 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant EG499ES MELA-AU 12 121947408 121947409 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant EG505ES MELA-AU 12 121947408 121947409 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant EG536ES MELA-AU 12 121947809 121947809 single base substitution G A 3_prime_UTR_variant MELA-AU 12 121947809 121947809 single base substitution G A downstream_gene_variant MELA-AU 12 121947809 121947809 single base substitution G A exon_variant MELA-AU 12 121947809 121947809 single base substitution G A missense_variant S105F 314C>T MELA-AU 12 121947809 121947809 single base substitution G A missense_variant S286F 857C>T MELA-AU 12 121947809 121947809 single base substitution G A missense_variant S313F 938C>T MELA-AU 12 121947809 121947809 single base substitution G A missense_variant S366F 1097C>T MELA-AU 12 121947809 121947809 single base substitution G A missense_variant S372F 1115C>T MELA-AU 12 121947809 121947809 single base substitution G A missense_variant S403F 1208C>T MELA-AU 12 121947809 121947809 single base substitution G A upstream_gene_variant MELA-AU 12 121948127 121948127 single base substitution G A downstream_gene_variant MELA-AU 12 121948127 121948127 single base substitution G A intron_variant MELA-AU 12 121948127 121948127 single base substitution G A upstream_gene_variant MELA-AU 12 121948159 121948159 single base substitution A G downstream_gene_variant MELA-AU 12 121948159 121948159 single base substitution A G intron_variant MELA-AU 12 121948159 121948159 single base substitution A G upstream_gene_variant MELA-AU 12 121948169 121948169 single base substitution C T downstream_gene_variant MELA-AU 12 121948169 121948169 single base substitution C T intron_variant MELA-AU 12 121948169 121948169 single base substitution C T upstream_gene_variant MELA-AU 12 121948265 121948265 single base substitution C T downstream_gene_variant MELA-AU 12 121948265 121948265 single base substitution C T intron_variant MELA-AU 12 121948265 121948265 single base substitution C T upstream_gene_variant MELA-AU 12 121949057 121949057 single base substitution C G downstream_gene_variant MELA-AU 12 121949057 121949057 single base substitution C G intron_variant MELA-AU 12 121949057 121949057 single base substitution C G upstream_gene_variant MELA-AU 12 121949810 121949810 single base substitution G A downstream_gene_variant MELA-AU 12 121949810 121949810 single base substitution G A intron_variant MELA-AU 12 121949810 121949810 single base substitution G A upstream_gene_variant MELA-AU 12 121950085 121950085 single base substitution C T downstream_gene_variant MELA-AU 12 121950085 121950085 single base substitution C T intron_variant MELA-AU 12 121950085 121950085 single base substitution C T upstream_gene_variant MELA-AU 12 121950316 121950316 single base substitution C T downstream_gene_variant MELA-AU 12 121950316 121950316 single base substitution C T intron_variant MELA-AU 12 121950316 121950316 single base substitution C T upstream_gene_variant MELA-AU 12 121950627 121950627 single base substitution C T downstream_gene_variant MELA-AU 12 121950627 121950627 single base substitution C T intron_variant MELA-AU 12 121950627 121950627 single base substitution C T upstream_gene_variant MELA-AU 12 121950765 121950765 single base substitution G A downstream_gene_variant MELA-AU 12 121950765 121950765 single base substitution G A intron_variant MELA-AU 12 121950765 121950765 single base substitution G A upstream_gene_variant MELA-AU 12 121951277 121951277 single base substitution G A downstream_gene_variant MELA-AU 12 121951277 121951277 single base substitution G A intron_variant MELA-AU 12 121951277 121951277 single base substitution G A upstream_gene_variant MELA-AU 12 121951489 121951489 single base substitution C T downstream_gene_variant MELA-AU 12 121951489 121951489 single base substitution C T intron_variant MELA-AU 12 121951489 121951489 single base substitution C T upstream_gene_variant MELA-AU 12 121951800 121951800 single base substitution C T downstream_gene_variant MELA-AU 12 121951800 121951800 single base substitution C T intron_variant MELA-AU 12 121951800 121951800 single base substitution C T upstream_gene_variant MELA-AU 12 121951841 121951841 single base substitution C T downstream_gene_variant MELA-AU 12 121951841 121951841 single base substitution C T intron_variant MELA-AU 12 121951841 121951841 single base substitution C T upstream_gene_variant MELA-AU 12 121951981 121951981 single base substitution G A downstream_gene_variant MELA-AU 12 121951981 121951981 single base substitution G A intron_variant MELA-AU 12 121951981 121951981 single base substitution G A upstream_gene_variant MELA-AU 12 121951984 121951984 single base substitution C T downstream_gene_variant MELA-AU 12 121951984 121951984 single base substitution C T intron_variant MELA-AU 12 121951984 121951984 single base substitution C T upstream_gene_variant MELA-AU 12 121952033 121952033 single base substitution C T downstream_gene_variant MELA-AU 12 121952033 121952033 single base substitution C T intron_variant MELA-AU 12 121952033 121952033 single base substitution C T upstream_gene_variant MELA-AU 12 121952266 121952266 single base substitution G A downstream_gene_variant MELA-AU 12 121952266 121952266 single base substitution G A intron_variant MELA-AU 12 121952266 121952266 single base substitution G A upstream_gene_variant MELA-AU 12 121952491 121952491 single base substitution C T downstream_gene_variant MELA-AU 12 121952491 121952491 single base substitution C T intron_variant MELA-AU 12 121952491 121952491 single base substitution C T upstream_gene_variant MELA-AU 12 121954155 121954155 single base substitution G A 3_prime_UTR_variant MELA-AU 12 121954155 121954155 single base substitution G A downstream_gene_variant MELA-AU 12 121954155 121954155 single base substitution G A intron_variant MELA-AU 12 121954189 121954189 single base substitution G A 3_prime_UTR_variant MELA-AU 12 121954189 121954189 single base substitution G A downstream_gene_variant MELA-AU 12 121954189 121954189 single base substitution G A intron_variant MELA-AU 12 121954242 121954242 single base substitution G A 3_prime_UTR_variant MELA-AU 12 121954242 121954242 single base substitution G A downstream_gene_variant MELA-AU 12 121954242 121954242 single base substitution G A intron_variant MELA-AU 12 121954812 121954812 single base substitution G A downstream_gene_variant MELA-AU 12 121954812 121954812 single base substitution G A intron_variant MELA-AU 12 121955085 121955085 single base substitution C T downstream_gene_variant MELA-AU 12 121955085 121955085 single base substitution C T intron_variant MELA-AU 12 121955211 121955211 single base substitution T A downstream_gene_variant MELA-AU 12 121955211 121955211 single base substitution T A intron_variant MELA-AU 12 121956324 121956324 single base substitution G A downstream_gene_variant MELA-AU 12 121956324 121956324 single base substitution G A intron_variant MELA-AU 12 121956456 121956457 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 121956456 121956457 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 121956832 121956832 single base substitution G A downstream_gene_variant MELA-AU 12 121956832 121956832 single base substitution G A intron_variant MELA-AU 12 121956965 121956965 single base substitution G T downstream_gene_variant MELA-AU 12 121956965 121956965 single base substitution G T intron_variant MELA-AU 12 121956968 121956968 single base substitution G A downstream_gene_variant MELA-AU 12 121956968 121956968 single base substitution G A intron_variant MELA-AU 12 121957859 121957859 single base substitution C T downstream_gene_variant MELA-AU 12 121957859 121957859 single base substitution C T intron_variant MELA-AU 12 121958588 121958588 single base substitution G A downstream_gene_variant MELA-AU 12 121958588 121958588 single base substitution G A intron_variant MELA-AU 12 121958610 121958610 single base substitution A C downstream_gene_variant MELA-AU 12 121958610 121958610 single base substitution A C intron_variant MELA-AU 12 121958671 121958671 single base substitution G A downstream_gene_variant MELA-AU 12 121958671 121958671 single base substitution G A intron_variant MELA-AU 12 121959622 121959622 single base substitution G A intron_variant MELA-AU 12 121959932 121959932 single base substitution G A intron_variant MELA-AU 12 121960213 121960213 single base substitution G A intron_variant MELA-AU 12 121960580 121960581 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 121960628 121960628 single base substitution G A intron_variant MELA-AU 12 121962488 121962488 single base substitution G A intron_variant MELA-AU 12 121962488 121962488 single base substitution G A missense_variant R10W 28C>T MELA-AU 12 121962537 121962537 single base substitution G A 5_prime_UTR_variant MELA-AU 12 121962537 121962537 single base substitution G A intron_variant MELA-AU 12 121963554 121963554 single base substitution G A intron_variant MELA-AU 12 121963554 121963554 single base substitution G A upstream_gene_variant MELA-AU 12 121963647 121963647 single base substitution G A intron_variant MELA-AU 12 121963647 121963647 single base substitution G A upstream_gene_variant MELA-AU 12 121964072 121964072 single base substitution C T intron_variant MELA-AU 12 121964072 121964072 single base substitution C T upstream_gene_variant MELA-AU 12 121965891 121965891 single base substitution A G downstream_gene_variant MELA-AU 12 121965891 121965891 single base substitution A G intron_variant MELA-AU 12 121965891 121965891 single base substitution A G upstream_gene_variant MELA-AU 12 121966473 121966473 single base substitution G A downstream_gene_variant MELA-AU 12 121966473 121966473 single base substitution G A intron_variant MELA-AU 12 121966473 121966473 single base substitution G A upstream_gene_variant MELA-AU 12 121966681 121966681 single base substitution C T downstream_gene_variant MELA-AU 12 121966681 121966681 single base substitution C T intron_variant MELA-AU 12 121966681 121966681 single base substitution C T upstream_gene_variant MELA-AU 12 121966705 121966705 single base substitution G A downstream_gene_variant MELA-AU 12 121966705 121966705 single base substitution G A intron_variant MELA-AU 12 121966705 121966705 single base substitution G A upstream_gene_variant MELA-AU 12 121966860 121966860 single base substitution G C downstream_gene_variant MELA-AU 12 121966860 121966860 single base substitution G C intron_variant MELA-AU 12 121966860 121966860 single base substitution G C upstream_gene_variant MELA-AU 12 121967074 121967074 single base substitution T C downstream_gene_variant MELA-AU 12 121967074 121967074 single base substitution T C intron_variant MELA-AU 12 121967074 121967074 single base substitution T C upstream_gene_variant MELA-AU 12 121967268 121967268 single base substitution G A downstream_gene_variant MELA-AU 12 121967268 121967268 single base substitution G A intron_variant MELA-AU 12 121967268 121967268 single base substitution G A upstream_gene_variant MELA-AU 12 121967692 121967692 single base substitution G C downstream_gene_variant MELA-AU 12 121967692 121967692 single base substitution G C intron_variant MELA-AU 12 121968510 121968510 single base substitution G A downstream_gene_variant MELA-AU 12 121968510 121968510 single base substitution G A intron_variant MELA-AU 12 121968880 121968880 single base substitution G A downstream_gene_variant MELA-AU 12 121968880 121968880 single base substitution G A intron_variant MELA-AU 12 121969015 121969015 single base substitution C G downstream_gene_variant MELA-AU 12 121969015 121969015 single base substitution C G intron_variant MELA-AU 12 121969292 121969292 single base substitution A G downstream_gene_variant MELA-AU 12 121969292 121969292 single base substitution A G intron_variant MELA-AU 12 121969369 121969370 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 121969369 121969370 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 121969742 121969742 single base substitution A G downstream_gene_variant MELA-AU 12 121969742 121969742 single base substitution A G intron_variant MELA-AU 12 121969760 121969760 single base substitution G A downstream_gene_variant MELA-AU 12 121969760 121969760 single base substitution G A intron_variant MELA-AU 12 121969766 121969766 single base substitution G A downstream_gene_variant MELA-AU 12 121969766 121969766 single base substitution G A intron_variant MELA-AU 12 121969949 121969949 single base substitution C A downstream_gene_variant MELA-AU 12 121969949 121969949 single base substitution C A intron_variant MELA-AU 12 121970548 121970548 single base substitution G A downstream_gene_variant MELA-AU 12 121970548 121970548 single base substitution G A intron_variant MELA-AU 12 121970643 121970644 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 121970643 121970644 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 121970701 121970701 single base substitution G A downstream_gene_variant MELA-AU 12 121970701 121970701 single base substitution G A intron_variant MELA-AU 12 121970717 121970717 single base substitution G A 3_prime_UTR_variant MELA-AU 12 121970717 121970717 single base substitution G A 5_prime_UTR_variant MELA-AU 12 121970717 121970717 single base substitution G A downstream_gene_variant MELA-AU 12 121970717 121970717 single base substitution G A exon_variant MELA-AU 12 121970717 121970717 single base substitution G A intron_variant MELA-AU 12 121970717 121970717 single base substitution G A missense_variant P192S 574C>T MELA-AU 12 121970717 121970717 single base substitution G A missense_variant P272S 814C>T MELA-AU 12 121970717 121970717 single base substitution G A missense_variant P278S 832C>T MELA-AU 12 121970717 121970717 single base substitution G A missense_variant P309S 925C>T MELA-AU 12 121970717 121970717 single base substitution G A missense_variant P78S 232C>T MELA-AU 12 121970943 121970943 single base substitution G A intron_variant MELA-AU 12 121970996 121970996 single base substitution G A intron_variant MELA-AU 12 121972433 121972433 single base substitution G A 3_prime_UTR_variant MELA-AU 12 121972433 121972433 single base substitution G A 5_prime_UTR_variant MELA-AU 12 121972433 121972433 single base substitution G A exon_variant MELA-AU 12 121972433 121972433 single base substitution G A missense_variant S132F 395C>T MELA-AU 12 121972433 121972433 single base substitution G A missense_variant S18F 53C>T MELA-AU 12 121972433 121972433 single base substitution G A missense_variant S212F 635C>T MELA-AU 12 121972433 121972433 single base substitution G A missense_variant S218F 653C>T MELA-AU 12 121972433 121972433 single base substitution G A missense_variant S249F 746C>T MELA-AU 12 121972522 121972522 single base substitution A G 5_prime_UTR_variant MELA-AU 12 121972522 121972522 single base substitution A G intron_variant MELA-AU 12 121973223 121973223 single base substitution A C intron_variant MELA-AU 12 121973223 121973223 single base substitution A C upstream_gene_variant MELA-AU 12 121973457 121973457 single base substitution G A intron_variant MELA-AU 12 121973457 121973457 single base substitution G A upstream_gene_variant MELA-AU 12 121977316 121977317 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 121977316 121977317 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 121977371 121977371 single base substitution C T intron_variant MELA-AU 12 121977371 121977371 single base substitution C T upstream_gene_variant MELA-AU 12 121977548 121977548 single base substitution A G intron_variant MELA-AU 12 121977548 121977548 single base substitution A G upstream_gene_variant MELA-AU 12 121977590 121977590 single base substitution G A intron_variant MELA-AU 12 121977590 121977590 single base substitution G A upstream_gene_variant MELA-AU 12 121978861 121978861 single base substitution G A intron_variant MELA-AU 12 121978861 121978861 single base substitution G A upstream_gene_variant MELA-AU 12 121979205 121979205 single base substitution G A intron_variant MELA-AU 12 121979205 121979205 single base substitution G A upstream_gene_variant MELA-AU 12 121979364 121979364 single base substitution G A intron_variant MELA-AU 12 121979364 121979364 single base substitution G A upstream_gene_variant MELA-AU 12 121980279 121980280 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 121980279 121980280 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 121981052 121981052 single base substitution G A intron_variant MELA-AU 12 121983046 121983046 single base substitution G A intron_variant MELA-AU 12 121983644 121983644 single base substitution G A intron_variant MELA-AU 12 121983683 121983683 single base substitution C G intron_variant MELA-AU 12 121984942 121984942 single base substitution G A intron_variant MELA-AU 12 121985273 121985273 single base substitution A G intron_variant MELA-AU 12 121986107 121986107 single base substitution G A intron_variant MELA-AU 12 121986148 121986148 single base substitution G A intron_variant MELA-AU 12 121986445 121986445 single base substitution G A intron_variant MELA-AU 12 121987788 121987788 single base substitution G A intron_variant MELA-AU 12 121987788 121987788 single base substitution G A upstream_gene_variant MELA-AU 12 121988391 121988391 single base substitution G A intron_variant MELA-AU 12 121988391 121988391 single base substitution G A upstream_gene_variant MELA-AU 12 121988489 121988489 single base substitution C T intron_variant MELA-AU 12 121988489 121988489 single base substitution C T upstream_gene_variant MELA-AU 12 121988657 121988657 single base substitution C T intron_variant MELA-AU 12 121988657 121988657 single base substitution C T upstream_gene_variant MELA-AU 12 121989820 121989820 single base substitution A T intron_variant MELA-AU 12 121989820 121989820 single base substitution A T upstream_gene_variant MELA-AU 12 121989956 121989956 single base substitution G A intron_variant MELA-AU 12 121989956 121989956 single base substitution G A upstream_gene_variant MELA-AU 12 121990244 121990244 single base substitution C T intron_variant MELA-AU 12 121990244 121990244 single base substitution C T upstream_gene_variant MELA-AU 12 121990709 121990709 single base substitution G A intron_variant MELA-AU 12 121990709 121990709 single base substitution G A upstream_gene_variant MELA-AU 12 121992006 121992006 single base substitution G A intron_variant MELA-AU 12 121992006 121992006 single base substitution G A upstream_gene_variant MELA-AU 12 121992531 121992531 single base substitution G A intron_variant MELA-AU 12 121992531 121992531 single base substitution G A upstream_gene_variant MELA-AU 12 121992959 121992959 single base substitution C T intron_variant MELA-AU 12 121995612 121995612 single base substitution G A intron_variant MELA-AU 12 121995805 121995806 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 121996331 121996331 single base substitution G A intron_variant MELA-AU 12 121997136 121997136 single base substitution G A intron_variant MELA-AU 12 121997466 121997466 single base substitution G A intron_variant MELA-AU 12 121997814 121997814 single base substitution A C intron_variant MELA-AU 12 121997825 121997825 single base substitution G A intron_variant MELA-AU 12 121997940 121997940 single base substitution C T intron_variant MELA-AU 12 121998885 121998885 single base substitution G A intron_variant MELA-AU 12 121999567 121999567 single base substitution T C intron_variant MELA-AU 12 121999583 121999583 single base substitution G A intron_variant MELA-AU 12 121999587 121999587 single base substitution T C intron_variant MELA-AU 12 122000542 122000542 single base substitution G A intron_variant MELA-AU 12 122000569 122000569 single base substitution G A intron_variant MELA-AU 12 122001230 122001231 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 122002188 122002189 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 122002258 122002258 single base substitution G A intron_variant MELA-AU 12 122002271 122002271 single base substitution G A intron_variant MELA-AU 12 122003045 122003045 single base substitution G A intron_variant MELA-AU 12 122003064 122003064 single base substitution A C intron_variant MELA-AU 12 122003215 122003215 single base substitution G A intron_variant MELA-AU 12 122003502 122003502 single base substitution C G intron_variant MELA-AU 12 122003828 122003829 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 122004225 122004225 single base substitution C T intron_variant MELA-AU 12 122004512 122004512 single base substitution G A intron_variant MELA-AU 12 122004784 122004784 single base substitution G A intron_variant MELA-AU 12 122004882 122004882 single base substitution G T intron_variant MELA-AU 12 122004922 122004922 single base substitution G A intron_variant MELA-AU 12 122005266 122005266 single base substitution G A intron_variant MELA-AU 12 122005802 122005802 single base substitution T A intron_variant MELA-AU 12 122006049 122006049 single base substitution G A intron_variant MELA-AU 12 122006139 122006139 single base substitution C T intron_variant MELA-AU 12 122006193 122006193 single base substitution G T intron_variant MELA-AU 12 122006673 122006673 single base substitution G A intron_variant MELA-AU 12 122007110 122007110 single base substitution C T intron_variant MELA-AU 12 122007272 122007272 single base substitution G A downstream_gene_variant MELA-AU 12 122007272 122007272 single base substitution G A intron_variant MELA-AU 12 122007719 122007719 single base substitution C T downstream_gene_variant MELA-AU 12 122007719 122007719 single base substitution C T intron_variant MELA-AU 12 122007876 122007876 single base substitution T A downstream_gene_variant MELA-AU 12 122007876 122007876 single base substitution T A intron_variant MELA-AU 12 122008001 122008001 single base substitution G A downstream_gene_variant MELA-AU 12 122008001 122008001 single base substitution G A intron_variant MELA-AU 12 122008120 122008120 single base substitution G A downstream_gene_variant MELA-AU 12 122008120 122008120 single base substitution G A intron_variant MELA-AU 12 122009233 122009233 single base substitution A G downstream_gene_variant MELA-AU 12 122009233 122009233 single base substitution A G intron_variant MELA-AU 12 122009353 122009353 single base substitution G C downstream_gene_variant MELA-AU 12 122009353 122009353 single base substitution G C intron_variant MELA-AU 12 122009481 122009481 single base substitution G A downstream_gene_variant MELA-AU 12 122009481 122009481 single base substitution G A intron_variant MELA-AU 12 122010653 122010653 single base substitution G A downstream_gene_variant MELA-AU 12 122010653 122010653 single base substitution G A intron_variant MELA-AU 12 122011025 122011026 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 122011025 122011026 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 122011405 122011405 single base substitution C T downstream_gene_variant MELA-AU 12 122011405 122011405 single base substitution C T intron_variant MELA-AU 12 122011571 122011571 single base substitution G A downstream_gene_variant MELA-AU 12 122011571 122011571 single base substitution G A intron_variant MELA-AU 12 122011591 122011591 single base substitution C T downstream_gene_variant MELA-AU 12 122011591 122011591 single base substitution C T intron_variant MELA-AU 12 122011861 122011861 single base substitution C T downstream_gene_variant MELA-AU 12 122011861 122011861 single base substitution C T intron_variant MELA-AU 12 122012472 122012472 single base substitution C T exon_variant MELA-AU 12 122012472 122012472 single base substitution C T missense_variant R126Q 377G>A MELA-AU 12 122012472 122012472 single base substitution C T missense_variant R89Q 266G>A MELA-AU 12 122012472 122012472 single base substitution C T missense_variant R95Q 284G>A MELA-AU 12 122012472 122012472 single base substitution C T missense_variant R9Q 26G>A MELA-AU 12 122012803 122012803 single base substitution G C intron_variant MELA-AU 12 122013057 122013057 single base substitution A G intron_variant MELA-AU 12 122013283 122013283 single base substitution A G intron_variant MELA-AU 12 122013379 122013379 single base substitution G A intron_variant MELA-AU 12 122013760 122013760 single base substitution G A exon_variant MELA-AU 12 122013760 122013760 single base substitution G A intron_variant MELA-AU 12 122013760 122013760 single base substitution G A synonymous_variant F55F 165C>T MELA-AU 12 122013760 122013760 single base substitution G A synonymous_variant F61F 183C>T MELA-AU 12 122013760 122013760 single base substitution G A synonymous_variant F92F 276C>T MELA-AU 12 122013805 122013805 single base substitution G A intron_variant MELA-AU 12 122013817 122013817 single base substitution G A intron_variant MELA-AU 12 122014059 122014059 single base substitution G A intron_variant MELA-AU 12 122015374 122015374 single base substitution G A intron_variant MELA-AU 12 122015860 122015860 single base substitution A T intron_variant MELA-AU 12 122015961 122015961 single base substitution G A intron_variant MELA-AU 12 122016203 122016203 single base substitution C T intron_variant MELA-AU 12 122017231 122017231 single base substitution G A intron_variant MELA-AU 12 122018730 122018730 single base substitution A G 5_prime_UTR_variant MELA-AU 12 122018730 122018730 single base substitution A G exon_variant MELA-AU 12 122018730 122018730 single base substitution A G synonymous_variant V29V 87T>C MELA-AU 12 122018730 122018730 single base substitution A G upstream_gene_variant MELA-AU 12 122021558 122021558 single base substitution G A upstream_gene_variant MELA-AU 12 122021912 122021912 single base substitution A G upstream_gene_variant MELA-AU 12 122022047 122022047 single base substitution G A upstream_gene_variant MELA-AU 12 122022862 122022862 single base substitution C T upstream_gene_variant MELA-AU 12 122023016 122023016 single base substitution C T upstream_gene_variant MELA-AU 12 122023299 122023299 single base substitution G A upstream_gene_variant MELA-AU 12 122023675 122023675 single base substitution A G upstream_gene_variant ORCA-IN 12 121888627 121888627 single base substitution G T intron_variant ORCA-IN 12 121900034 121900034 single base substitution G T intron_variant ORCA-IN 12 121938676 121938676 single base substitution G T intron_variant ORCA-IN 12 121944670 121944670 single base substitution T A downstream_gene_variant ORCA-IN 12 121944670 121944670 single base substitution T A intron_variant ORCA-IN 12 121987498 121987498 single base substitution C A 3_prime_UTR_variant ORCA-IN 12 121987498 121987498 single base substitution C A exon_variant ORCA-IN 12 121987498 121987498 single base substitution C A missense_variant G111V 332G>T ORCA-IN 12 121987498 121987498 single base substitution C A missense_variant G117V 350G>T ORCA-IN 12 121987498 121987498 single base substitution C A missense_variant G148V 443G>T ORCA-IN 12 121987498 121987498 single base substitution C A missense_variant G31V 92G>T ORCA-IN 12 121991942 121991942 single base substitution A C intron_variant ORCA-IN 12 121991942 121991942 single base substitution A C upstream_gene_variant ORCA-IN 12 122007584 122007585 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant ORCA-IN 12 122007584 122007585 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant ORCA-IN 12 122008062 122008062 single base substitution C A downstream_gene_variant ORCA-IN 12 122008062 122008062 single base substitution C A intron_variant ORCA-IN 12 122008348 122008348 single base substitution C T downstream_gene_variant ORCA-IN 12 122008348 122008348 single base substitution C T intron_variant ORCA-IN 12 122008493 122008493 single base substitution G C downstream_gene_variant ORCA-IN 12 122008493 122008493 single base substitution G C intron_variant OV-AU 12 121869060 121869060 single base substitution G C intron_variant OV-AU 12 121878619 121878619 single base substitution C G downstream_gene_variant OV-AU 12 121878619 121878619 single base substitution C G exon_variant OV-AU 12 121878619 121878619 single base substitution C G intron_variant OV-AU 12 121878619 121878619 single base substitution C G missense_variant G1135R 3403G>C OV-AU 12 121878619 121878619 single base substitution C G missense_variant G1204R 3610G>C OV-AU 12 121878619 121878619 single base substitution C G missense_variant G572R 1714G>C OV-AU 12 121878619 121878619 single base substitution C G splice_region_variant OV-AU 12 121882536 121882536 single base substitution G C exon_variant OV-AU 12 121882536 121882536 single base substitution G C intron_variant OV-AU 12 121882536 121882536 single base substitution G C upstream_gene_variant OV-AU 12 121886261 121886261 single base substitution G A intron_variant OV-AU 12 121891825 121891825 single base substitution C A intron_variant OV-AU 12 121893363 121893363 single base substitution C A intron_variant OV-AU 12 121901751 121901751 single base substitution G A intron_variant OV-AU 12 121911372 121911372 single base substitution G T intron_variant OV-AU 12 121911372 121911372 single base substitution G T upstream_gene_variant OV-AU 12 121918810 121918810 single base substitution C A intron_variant OV-AU 12 121929639 121929639 single base substitution A G downstream_gene_variant OV-AU 12 121929639 121929639 single base substitution A G intron_variant OV-AU 12 121929678 121929678 single base substitution A T downstream_gene_variant OV-AU 12 121929678 121929678 single base substitution A T intron_variant OV-AU 12 121933025 121933025 single base substitution C T intron_variant OV-AU 12 121933202 121933202 single base substitution G C intron_variant OV-AU 12 121936763 121936763 single base substitution C A intron_variant OV-AU 12 121938835 121938835 single base substitution C T intron_variant OV-AU 12 121939355 121939355 single base substitution T C intron_variant OV-AU 12 121944608 121944608 single base substitution G A downstream_gene_variant OV-AU 12 121944608 121944608 single base substitution G A intron_variant OV-AU 12 121947724 121947724 single base substitution G A 3_prime_UTR_variant OV-AU 12 121947724 121947724 single base substitution G A downstream_gene_variant OV-AU 12 121947724 121947724 single base substitution G A exon_variant OV-AU 12 121947724 121947724 single base substitution G A synonymous_variant G314G 942C>T OV-AU 12 121947724 121947724 single base substitution G A synonymous_variant G341G 1023C>T OV-AU 12 121947724 121947724 single base substitution G A synonymous_variant G394G 1182C>T OV-AU 12 121947724 121947724 single base substitution G A synonymous_variant G400G 1200C>T OV-AU 12 121947724 121947724 single base substitution G A synonymous_variant G431G 1293C>T OV-AU 12 121947724 121947724 single base substitution G A upstream_gene_variant OV-AU 12 121950637 121950637 single base substitution G A downstream_gene_variant OV-AU 12 121950637 121950637 single base substitution G A intron_variant OV-AU 12 121950637 121950637 single base substitution G A upstream_gene_variant OV-AU 12 121950638 121950638 single base substitution C A downstream_gene_variant OV-AU 12 121950638 121950638 single base substitution C A intron_variant OV-AU 12 121950638 121950638 single base substitution C A upstream_gene_variant OV-AU 12 121954413 121954413 single base substitution C T 3_prime_UTR_variant OV-AU 12 121954413 121954413 single base substitution C T downstream_gene_variant OV-AU 12 121954413 121954413 single base substitution C T intron_variant OV-AU 12 121954950 121954950 single base substitution T A downstream_gene_variant OV-AU 12 121954950 121954950 single base substitution T A intron_variant OV-AU 12 121955486 121955486 single base substitution C G downstream_gene_variant OV-AU 12 121955486 121955486 single base substitution C G intron_variant OV-AU 12 121959374 121959374 single base substitution G A intron_variant OV-AU 12 121968424 121968424 single base substitution A C downstream_gene_variant OV-AU 12 121968424 121968424 single base substitution A C intron_variant OV-AU 12 121973612 121973612 single base substitution G C intron_variant OV-AU 12 121973612 121973612 single base substitution G C upstream_gene_variant OV-AU 12 121978073 121978073 single base substitution T G intron_variant OV-AU 12 121978073 121978073 single base substitution T G upstream_gene_variant OV-AU 12 121978334 121978334 single base substitution G A intron_variant OV-AU 12 121978334 121978334 single base substitution G A upstream_gene_variant OV-AU 12 121980431 121980431 single base substitution T A intron_variant OV-AU 12 121980431 121980431 single base substitution T A upstream_gene_variant OV-AU 12 121983036 121983036 single base substitution A G intron_variant OV-AU 12 121987000 121987000 single base substitution C G intron_variant OV-AU 12 121994355 121994355 single base substitution C T intron_variant OV-AU 12 121995824 121995824 single base substitution C G intron_variant OV-AU 12 122002907 122002907 single base substitution T C intron_variant OV-AU 12 122009501 122009501 single base substitution C T downstream_gene_variant OV-AU 12 122009501 122009501 single base substitution C T intron_variant OV-AU 12 122010294 122010294 single base substitution T C downstream_gene_variant OV-AU 12 122010294 122010294 single base substitution T C intron_variant OV-AU 12 122010709 122010709 single base substitution A T downstream_gene_variant OV-AU 12 122010709 122010709 single base substitution A T intron_variant OV-AU 12 122013821 122013821 single base substitution C T intron_variant OV-AU 12 122015465 122015465 single base substitution A G intron_variant OV-AU 12 122020602 122020602 single base substitution G C upstream_gene_variant OV-US 12 121877819 121877819 single base substitution C A downstream_gene_variant OV-US 12 121877819 121877819 single base substitution C A exon_variant OV-US 12 121877819 121877819 single base substitution C A intron_variant OV-US 12 121877819 121877819 single base substitution C A missense_variant D1155Y 3463G>T OV-US 12 121877819 121877819 single base substitution C A missense_variant D1224Y 3670G>T OV-US 12 121877819 121877819 single base substitution C A missense_variant D592Y 1774G>T PACA-AU 12 121867030 121867030 single base substitution G A 3_prime_UTR_variant PACA-AU 12 121867030 121867030 single base substitution G A downstream_gene_variant PACA-AU 12 121878656 121878656 single base substitution C T downstream_gene_variant PACA-AU 12 121878656 121878656 single base substitution C T exon_variant PACA-AU 12 121878656 121878656 single base substitution C T intron_variant PACA-AU 12 121878656 121878656 single base substitution C T missense_variant M1122I 3366G>A PACA-AU 12 121878656 121878656 single base substitution C T missense_variant M1191I 3573G>A PACA-AU 12 121878656 121878656 single base substitution C T missense_variant M559I 1677G>A PACA-AU 12 121878750 121878750 single base substitution G A downstream_gene_variant PACA-AU 12 121878750 121878750 single base substitution G A exon_variant PACA-AU 12 121878750 121878750 single base substitution G A intron_variant PACA-AU 12 121878750 121878750 single base substitution G A missense_variant S1091L 3272C>T PACA-AU 12 121878750 121878750 single base substitution G A missense_variant S1160L 3479C>T PACA-AU 12 121878750 121878750 single base substitution G A missense_variant S528L 1583C>T PACA-AU 12 121886571 121886571 single base substitution C A intron_variant PACA-AU 12 121890239 121890239 single base substitution G A intron_variant PACA-AU 12 121903019 121903024 deletion of <=200bp TTTGTT - intron_variant PACA-AU 12 121907911 121907911 single base substitution A G exon_variant PACA-AU 12 121907911 121907911 single base substitution A G intron_variant PACA-AU 12 121911252 121911252 single base substitution T G intron_variant PACA-AU 12 121911252 121911252 single base substitution T G upstream_gene_variant PACA-AU 12 121911568 121911568 single base substitution A G intron_variant PACA-AU 12 121911568 121911568 single base substitution A G upstream_gene_variant PACA-AU 12 121911985 121911985 single base substitution C T intron_variant PACA-AU 12 121911985 121911985 single base substitution C T upstream_gene_variant PACA-AU 12 121914290 121914290 single base substitution A T intron_variant PACA-AU 12 121916245 121916245 single base substitution C T intron_variant PACA-AU 12 121919567 121919567 insertion of <=200bp - TTTG intron_variant PACA-AU 12 121925639 121925639 single base substitution C T intron_variant PACA-AU 12 121932506 121932506 single base substitution A G intron_variant PACA-AU 12 121941440 121941440 single base substitution G T intron_variant PACA-AU 12 121947534 121947534 single base substitution T G 3_prime_UTR_variant PACA-AU 12 121947534 121947534 single base substitution T G downstream_gene_variant PACA-AU 12 121947534 121947534 single base substitution T G exon_variant PACA-AU 12 121947534 121947534 single base substitution T G missense_variant T378P 1132A>C PACA-AU 12 121947534 121947534 single base substitution T G missense_variant T405P 1213A>C PACA-AU 12 121947534 121947534 single base substitution T G missense_variant T458P 1372A>C PACA-AU 12 121947534 121947534 single base substitution T G missense_variant T464P 1390A>C PACA-AU 12 121947534 121947534 single base substitution T G missense_variant T495P 1483A>C PACA-AU 12 121947534 121947534 single base substitution T G upstream_gene_variant PACA-AU 12 121950404 121950404 single base substitution C T downstream_gene_variant PACA-AU 12 121950404 121950404 single base substitution C T intron_variant PACA-AU 12 121950404 121950404 single base substitution C T upstream_gene_variant PACA-AU 12 121953573 121953573 single base substitution G A downstream_gene_variant PACA-AU 12 121953573 121953573 single base substitution G A intron_variant PACA-AU 12 121955726 121955726 single base substitution G A downstream_gene_variant PACA-AU 12 121955726 121955726 single base substitution G A intron_variant PACA-AU 12 121961357 121961357 single base substitution C A intron_variant PACA-AU 12 121962355 121962355 single base substitution A C intron_variant PACA-AU 12 121972114 121972114 single base substitution C T intron_variant PACA-AU 12 121975956 121975966 deletion of <=200bp CCGGCCGAGGA - intron_variant PACA-AU 12 121975956 121975966 deletion of <=200bp CCGGCCGAGGA - upstream_gene_variant PACA-AU 12 121977005 121977005 single base substitution G A intron_variant PACA-AU 12 121977005 121977005 single base substitution G A upstream_gene_variant PACA-AU 12 121983733 121983733 single base substitution A C intron_variant PACA-AU 12 121984761 121984761 single base substitution C T intron_variant PACA-AU 12 121985322 121985322 single base substitution C T intron_variant PACA-AU 12 121985976 121985976 single base substitution G A intron_variant PACA-AU 12 121993795 121993795 single base substitution C A intron_variant PACA-AU 12 121999932 121999932 single base substitution C T intron_variant PACA-AU 12 122001467 122001467 single base substitution G A intron_variant PACA-AU 12 122004457 122004457 single base substitution C T intron_variant PACA-AU 12 122005616 122005616 single base substitution T C intron_variant PACA-AU 12 122006027 122006027 single base substitution C T intron_variant PACA-AU 12 122006541 122006541 single base substitution C T intron_variant PACA-AU 12 122015706 122015706 single base substitution A G intron_variant PACA-AU 12 122016090 122016090 single base substitution C T intron_variant PACA-AU 12 122019795 122019795 single base substitution G A upstream_gene_variant PACA-CA 12 121867040 121867040 single base substitution A C 3_prime_UTR_variant PACA-CA 12 121867040 121867040 single base substitution A C downstream_gene_variant PACA-CA 12 121867674 121867674 insertion of <=200bp - A 3_prime_UTR_variant PACA-CA 12 121867674 121867674 insertion of <=200bp - A exon_variant PACA-CA 12 121869194 121869194 single base substitution C T intron_variant PACA-CA 12 121869350 121869350 single base substitution C A intron_variant PACA-CA 12 121872114 121872114 single base substitution G A intron_variant PACA-CA 12 121882069 121882069 single base substitution G A exon_variant PACA-CA 12 121882069 121882069 single base substitution G A intron_variant PACA-CA 12 121882069 121882069 single base substitution G A missense_variant R101C 301C>T PACA-CA 12 121882069 121882069 single base substitution G A missense_variant R702C 2104C>T PACA-CA 12 121882069 121882069 single base substitution G A missense_variant R733C 2197C>T PACA-CA 12 121882069 121882069 single base substitution G A upstream_gene_variant PACA-CA 12 121882154 121882154 single base substitution C T intron_variant PACA-CA 12 121882154 121882154 single base substitution C T upstream_gene_variant PACA-CA 12 121883920 121883920 single base substitution C T intron_variant PACA-CA 12 121883920 121883920 single base substitution C T upstream_gene_variant PACA-CA 12 121884721 121884721 single base substitution C T intron_variant PACA-CA 12 121886347 121886347 single base substitution G T intron_variant PACA-CA 12 121887230 121887230 single base substitution A T intron_variant PACA-CA 12 121889801 121889801 single base substitution G A intron_variant PACA-CA 12 121889920 121889920 single base substitution T G intron_variant PACA-CA 12 121893252 121893252 single base substitution C T intron_variant PACA-CA 12 121895051 121895060 deletion of <=200bp TTCTTTTCTT - intron_variant PACA-CA 12 121898458 121898458 single base substitution G A intron_variant PACA-CA 12 121906928 121906928 single base substitution G A exon_variant PACA-CA 12 121906928 121906928 single base substitution G A intron_variant PACA-CA 12 121909399 121909399 single base substitution C G intron_variant PACA-CA 12 121909399 121909399 single base substitution C G upstream_gene_variant PACA-CA 12 121914277 121914277 insertion of <=200bp - T intron_variant PACA-CA 12 121914290 121914290 single base substitution A T intron_variant PACA-CA 12 121916561 121916561 single base substitution G A intron_variant PACA-CA 12 121918094 121918094 single base substitution A T intron_variant PACA-CA 12 121918693 121918693 insertion of <=200bp - A intron_variant PACA-CA 12 121923868 121923868 single base substitution C A intron_variant PACA-CA 12 121924714 121924714 single base substitution T C intron_variant PACA-CA 12 121927586 121927586 single base substitution C G downstream_gene_variant PACA-CA 12 121927586 121927586 single base substitution C G intron_variant PACA-CA 12 121931826 121931826 insertion of <=200bp - T 3_prime_UTR_variant PACA-CA 12 121931826 121931826 insertion of <=200bp - T intron_variant PACA-CA 12 121932734 121932734 single base substitution C T intron_variant PACA-CA 12 121934861 121934861 single base substitution C T intron_variant PACA-CA 12 121935023 121935023 single base substitution A G intron_variant PACA-CA 12 121935625 121935625 single base substitution T A intron_variant PACA-CA 12 121943747 121943747 single base substitution T C downstream_gene_variant PACA-CA 12 121943747 121943747 single base substitution T C intron_variant PACA-CA 12 121950862 121950862 single base substitution G A downstream_gene_variant PACA-CA 12 121950862 121950862 single base substitution G A intron_variant PACA-CA 12 121950862 121950862 single base substitution G A upstream_gene_variant PACA-CA 12 121951098 121951098 single base substitution C G 3_prime_UTR_variant PACA-CA 12 121951098 121951098 single base substitution C G downstream_gene_variant PACA-CA 12 121951098 121951098 single base substitution C G exon_variant PACA-CA 12 121951098 121951098 single base substitution C G missense_variant Q154H 462G>C PACA-CA 12 121951098 121951098 single base substitution C G missense_variant Q268H 804G>C PACA-CA 12 121951098 121951098 single base substitution C G missense_variant Q295H 885G>C PACA-CA 12 121951098 121951098 single base substitution C G missense_variant Q348H 1044G>C PACA-CA 12 121951098 121951098 single base substitution C G missense_variant Q354H 1062G>C PACA-CA 12 121951098 121951098 single base substitution C G missense_variant Q385H 1155G>C PACA-CA 12 121951098 121951098 single base substitution C G missense_variant Q87H 261G>C PACA-CA 12 121951098 121951098 single base substitution C G upstream_gene_variant PACA-CA 12 121954219 121954219 single base substitution T A 3_prime_UTR_variant PACA-CA 12 121954219 121954219 single base substitution T A downstream_gene_variant PACA-CA 12 121954219 121954219 single base substitution T A intron_variant PACA-CA 12 121958763 121958763 single base substitution C T downstream_gene_variant PACA-CA 12 121958763 121958763 single base substitution C T intron_variant PACA-CA 12 121961688 121961688 single base substitution C T intron_variant PACA-CA 12 121966481 121966484 deletion of <=200bp AATA - downstream_gene_variant PACA-CA 12 121966481 121966484 deletion of <=200bp AATA - intron_variant PACA-CA 12 121966481 121966484 deletion of <=200bp AATA - upstream_gene_variant PACA-CA 12 121968002 121968002 single base substitution G A downstream_gene_variant PACA-CA 12 121968002 121968002 single base substitution G A intron_variant PACA-CA 12 121971578 121971578 single base substitution C T intron_variant PACA-CA 12 121977748 121977748 single base substitution G T intron_variant PACA-CA 12 121977748 121977748 single base substitution G T upstream_gene_variant PACA-CA 12 121982621 121982621 single base substitution C T intron_variant PACA-CA 12 121983876 121983876 single base substitution G A intron_variant PACA-CA 12 121989396 121989396 single base substitution C T intron_variant PACA-CA 12 121989396 121989396 single base substitution C T upstream_gene_variant PACA-CA 12 121993225 121993225 single base substitution T A intron_variant PACA-CA 12 121995663 121995663 single base substitution T C intron_variant PACA-CA 12 121995832 121995832 single base substitution C T intron_variant PACA-CA 12 121996004 121996004 single base substitution C T intron_variant PACA-CA 12 122000083 122000083 single base substitution A G intron_variant PACA-CA 12 122004943 122004943 single base substitution C T intron_variant PACA-CA 12 122005109 122005109 single base substitution C G intron_variant PACA-CA 12 122005442 122005442 single base substitution G A intron_variant PACA-CA 12 122007936 122007936 insertion of <=200bp - T downstream_gene_variant PACA-CA 12 122007936 122007936 insertion of <=200bp - T intron_variant PACA-CA 12 122012468 122012468 single base substitution G A exon_variant PACA-CA 12 122012468 122012468 single base substitution G A synonymous_variant D10D 30C>T PACA-CA 12 122012468 122012468 single base substitution G A synonymous_variant D127D 381C>T PACA-CA 12 122012468 122012468 single base substitution G A synonymous_variant D90D 270C>T PACA-CA 12 122012468 122012468 single base substitution G A synonymous_variant D96D 288C>T PACA-CA 12 122017586 122017586 single base substitution C A intron_variant PACA-CA 12 122017586 122017586 single base substitution C A upstream_gene_variant PACA-CA 12 122020557 122020557 insertion of <=200bp - C upstream_gene_variant PACA-CA 12 122021163 122021163 single base substitution G C upstream_gene_variant PACA-CA 12 122023484 122023484 single base substitution G A upstream_gene_variant PAEN-AU 12 121862526 121862526 single base substitution A G downstream_gene_variant PAEN-AU 12 121866762 121866762 single base substitution C T downstream_gene_variant PAEN-AU 12 121940937 121940937 single base substitution C T intron_variant PAEN-AU 12 121968436 121968436 single base substitution A C downstream_gene_variant PAEN-AU 12 121968436 121968436 single base substitution A C intron_variant PAEN-AU 12 121974950 121974950 single base substitution C G intron_variant PAEN-AU 12 121974950 121974950 single base substitution C G upstream_gene_variant PAEN-AU 12 122007289 122007289 single base substitution A C downstream_gene_variant PAEN-AU 12 122007289 122007289 single base substitution A C intron_variant PAEN-AU 12 122016549 122016549 single base substitution A C intron_variant PAEN-IT 12 121889701 121889701 single base substitution C A intron_variant PAEN-IT 12 121911429 121911429 single base substitution G A intron_variant PAEN-IT 12 121911429 121911429 single base substitution G A upstream_gene_variant PAEN-IT 12 121980756 121980756 single base substitution C A intron_variant PBCA-DE 12 121868322 121868322 deletion of <=200bp C - intron_variant PBCA-DE 12 121889345 121889345 single base substitution C A intron_variant PBCA-DE 12 121891141 121891141 single base substitution C T 3_prime_UTR_variant PBCA-DE 12 121891141 121891141 single base substitution C T 5_prime_UTR_variant PBCA-DE 12 121891141 121891141 single base substitution C T exon_variant PBCA-DE 12 121891141 121891141 single base substitution C T missense_variant A464T 1390G>A PBCA-DE 12 121891141 121891141 single base substitution C T missense_variant A550T 1648G>A PBCA-DE 12 121891141 121891141 single base substitution C T missense_variant A581T 1741G>A PBCA-DE 12 121894461 121894461 single base substitution G C intron_variant PBCA-DE 12 121899806 121899806 single base substitution G A intron_variant PBCA-DE 12 121902105 121902105 single base substitution G A intron_variant PBCA-DE 12 121916122 121916122 single base substitution G T intron_variant PBCA-DE 12 121918322 121918322 single base substitution G C intron_variant PBCA-DE 12 121919295 121919295 single base substitution G A intron_variant PBCA-DE 12 121943254 121943254 single base substitution C A downstream_gene_variant PBCA-DE 12 121943254 121943254 single base substitution C A intron_variant PBCA-DE 12 121948050 121948050 single base substitution C T downstream_gene_variant PBCA-DE 12 121948050 121948050 single base substitution C T intron_variant PBCA-DE 12 121948050 121948050 single base substitution C T upstream_gene_variant PBCA-DE 12 121950869 121950869 single base substitution T C downstream_gene_variant PBCA-DE 12 121950869 121950869 single base substitution T C intron_variant PBCA-DE 12 121950869 121950869 single base substitution T C upstream_gene_variant PBCA-DE 12 121954219 121954219 single base substitution T A 3_prime_UTR_variant PBCA-DE 12 121954219 121954219 single base substitution T A downstream_gene_variant PBCA-DE 12 121954219 121954219 single base substitution T A intron_variant PBCA-DE 12 121963260 121963260 single base substitution C T intron_variant PBCA-DE 12 121963260 121963260 single base substitution C T upstream_gene_variant PBCA-DE 12 121991428 121991428 single base substitution C G intron_variant PBCA-DE 12 121991428 121991428 single base substitution C G upstream_gene_variant PBCA-DE 12 121994578 121994578 single base substitution A T intron_variant PBCA-DE 12 121996337 121996337 single base substitution G T intron_variant PBCA-DE 12 122017827 122017827 single base substitution G A intron_variant PBCA-DE 12 122017827 122017827 single base substitution G A upstream_gene_variant PRAD-CA 12 121880592 121880592 single base substitution C T downstream_gene_variant PRAD-CA 12 121880592 121880592 single base substitution C T exon_variant PRAD-CA 12 121880592 121880592 single base substitution C T intron_variant PRAD-CA 12 121880592 121880592 single base substitution C T synonymous_variant K252K 756G>A PRAD-CA 12 121880592 121880592 single base substitution C T synonymous_variant K815K 2445G>A PRAD-CA 12 121880592 121880592 single base substitution C T synonymous_variant K884K 2652G>A PRAD-CA 12 121880592 121880592 single base substitution C T upstream_gene_variant PRAD-CA 12 121910525 121910525 single base substitution C G intron_variant PRAD-CA 12 121910525 121910525 single base substitution C G upstream_gene_variant PRAD-CA 12 121923486 121923486 single base substitution G A intron_variant PRAD-CA 12 121926601 121926601 single base substitution G T intron_variant PRAD-CA 12 121954688 121954688 single base substitution T A downstream_gene_variant PRAD-CA 12 121954688 121954688 single base substitution T A intron_variant PRAD-CA 12 121970516 121970516 single base substitution C T downstream_gene_variant PRAD-CA 12 121970516 121970516 single base substitution C T intron_variant PRAD-CA 12 121978716 121978716 single base substitution G A intron_variant PRAD-CA 12 121978716 121978716 single base substitution G A upstream_gene_variant PRAD-CA 12 121978717 121978717 single base substitution G A intron_variant PRAD-CA 12 121978717 121978717 single base substitution G A upstream_gene_variant PRAD-CA 12 121978869 121978869 single base substitution G A intron_variant PRAD-CA 12 121978869 121978869 single base substitution G A upstream_gene_variant PRAD-CA 12 121984551 121984551 single base substitution G A intron_variant PRAD-CA 12 121992286 121992286 single base substitution T C intron_variant PRAD-CA 12 121992286 121992286 single base substitution T C upstream_gene_variant PRAD-CA 12 121996496 121996496 single base substitution C A intron_variant PRAD-CA 12 121996497 121996497 single base substitution T C intron_variant PRAD-CA 12 122003238 122003238 single base substitution T A intron_variant PRAD-UK 12 121867888 121867888 single base substitution C A 3_prime_UTR_variant PRAD-UK 12 121867888 121867888 single base substitution C A exon_variant PRAD-UK 12 121873538 121873538 single base substitution G A downstream_gene_variant PRAD-UK 12 121873538 121873538 single base substitution G A intron_variant PRAD-UK 12 121881267 121881267 single base substitution C T downstream_gene_variant PRAD-UK 12 121881267 121881267 single base substitution C T exon_variant PRAD-UK 12 121881267 121881267 single base substitution C T intron_variant PRAD-UK 12 121881267 121881267 single base substitution C T upstream_gene_variant PRAD-UK 12 121894608 121894608 single base substitution G A intron_variant PRAD-UK 12 121917642 121917642 single base substitution C T intron_variant PRAD-UK 12 121962979 121962979 single base substitution C G intron_variant PRAD-UK 12 121962979 121962979 single base substitution C G upstream_gene_variant PRAD-UK 12 121967978 121967978 deletion of <=200bp A - downstream_gene_variant PRAD-UK 12 121967978 121967978 deletion of <=200bp A - intron_variant PRAD-UK 12 121968090 121968090 single base substitution G A downstream_gene_variant PRAD-UK 12 121968090 121968090 single base substitution G A intron_variant PRAD-UK 12 121974150 121974150 single base substitution G A intron_variant PRAD-UK 12 121974150 121974150 single base substitution G A upstream_gene_variant PRAD-UK 12 121976149 121976149 single base substitution G A intron_variant PRAD-UK 12 121976149 121976149 single base substitution G A upstream_gene_variant PRAD-UK 12 121982253 121982253 single base substitution C T intron_variant PRAD-UK 12 121989054 121989054 single base substitution C G intron_variant PRAD-UK 12 121989054 121989054 single base substitution C G upstream_gene_variant PRAD-UK 12 122009840 122009840 single base substitution G A downstream_gene_variant PRAD-UK 12 122009840 122009840 single base substitution G A intron_variant PRAD-UK 12 122018432 122018432 single base substitution G T intron_variant PRAD-UK 12 122018432 122018432 single base substitution G T upstream_gene_variant PRAD-US 12 121880538 121880538 single base substitution G A downstream_gene_variant PRAD-US 12 121880538 121880538 single base substitution G A exon_variant PRAD-US 12 121880538 121880538 single base substitution G A intron_variant PRAD-US 12 121880538 121880538 single base substitution G A synonymous_variant P270P 810C>T PRAD-US 12 121880538 121880538 single base substitution G A synonymous_variant P833P 2499C>T PRAD-US 12 121880538 121880538 single base substitution G A synonymous_variant P902P 2706C>T PRAD-US 12 121880538 121880538 single base substitution G A upstream_gene_variant READ-US 12 121880495 121880495 single base substitution C T downstream_gene_variant READ-US 12 121880495 121880495 single base substitution C T exon_variant READ-US 12 121880495 121880495 single base substitution C T intron_variant READ-US 12 121880495 121880495 single base substitution C T missense_variant A285T 853G>A READ-US 12 121880495 121880495 single base substitution C T missense_variant A848T 2542G>A READ-US 12 121880495 121880495 single base substitution C T missense_variant A917T 2749G>A READ-US 12 121880495 121880495 single base substitution C T upstream_gene_variant READ-US 12 121883200 121883200 single base substitution C T exon_variant READ-US 12 121883200 121883200 single base substitution C T intron_variant READ-US 12 121883200 121883200 single base substitution C T missense_variant V29M 85G>A READ-US 12 121883200 121883200 single base substitution C T missense_variant V630M 1888G>A READ-US 12 121883200 121883200 single base substitution C T missense_variant V661M 1981G>A READ-US 12 121883200 121883200 single base substitution C T upstream_gene_variant RECA-EU 12 121866045 121866045 single base substitution G C downstream_gene_variant RECA-EU 12 121870234 121870234 single base substitution T G intron_variant RECA-EU 12 121889151 121889151 single base substitution G A intron_variant RECA-EU 12 121916665 121916665 single base substitution T G intron_variant RECA-EU 12 121916677 121916677 single base substitution G T intron_variant RECA-EU 12 121932696 121932696 single base substitution G A intron_variant RECA-EU 12 121939952 121939952 single base substitution C A intron_variant RECA-EU 12 121954083 121954083 single base substitution G A downstream_gene_variant RECA-EU 12 121954083 121954083 single base substitution G A intron_variant RECA-EU 12 121960192 121960192 single base substitution C T intron_variant RECA-EU 12 121960391 121960391 single base substitution C T intron_variant RECA-EU 12 121963541 121963541 single base substitution G A intron_variant RECA-EU 12 121963541 121963541 single base substitution G A upstream_gene_variant RECA-EU 12 121967295 121967295 single base substitution G T downstream_gene_variant RECA-EU 12 121967295 121967295 single base substitution G T intron_variant RECA-EU 12 121967295 121967295 single base substitution G T upstream_gene_variant RECA-EU 12 121977223 121977223 single base substitution C T intron_variant RECA-EU 12 121977223 121977223 single base substitution C T upstream_gene_variant RECA-EU 12 121983453 121983453 single base substitution A G intron_variant RECA-EU 12 121986264 121986264 single base substitution G C intron_variant RECA-EU 12 122004426 122004426 single base substitution C T intron_variant RECA-EU 12 122005180 122005180 single base substitution A G intron_variant RECA-EU 12 122009757 122009757 single base substitution C T downstream_gene_variant RECA-EU 12 122009757 122009757 single base substitution C T intron_variant SKCA-BR 12 121862837 121862837 single base substitution A C downstream_gene_variant SKCA-BR 12 121863919 121863919 single base substitution G A downstream_gene_variant SKCA-BR 12 121872267 121872268 deletion of <=200bp GC - intron_variant SKCA-BR 12 121873786 121873786 single base substitution A G downstream_gene_variant SKCA-BR 12 121873786 121873786 single base substitution A G intron_variant SKCA-BR 12 121874323 121874324 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 12 121874323 121874324 deletion of <=200bp CA - intron_variant SKCA-BR 12 121875002 121875002 single base substitution G A downstream_gene_variant SKCA-BR 12 121875002 121875002 single base substitution G A intron_variant SKCA-BR 12 121880779 121880779 single base substitution G A downstream_gene_variant SKCA-BR 12 121880779 121880779 single base substitution G A exon_variant SKCA-BR 12 121880779 121880779 single base substitution G A intron_variant SKCA-BR 12 121880779 121880779 single base substitution G A upstream_gene_variant SKCA-BR 12 121881216 121881216 single base substitution T G downstream_gene_variant SKCA-BR 12 121881216 121881216 single base substitution T G exon_variant SKCA-BR 12 121881216 121881216 single base substitution T G intron_variant SKCA-BR 12 121881216 121881216 single base substitution T G upstream_gene_variant SKCA-BR 12 121881420 121881420 single base substitution T G downstream_gene_variant SKCA-BR 12 121881420 121881420 single base substitution T G exon_variant SKCA-BR 12 121881420 121881420 single base substitution T G intron_variant SKCA-BR 12 121881420 121881420 single base substitution T G upstream_gene_variant SKCA-BR 12 121882977 121882977 single base substitution G A exon_variant SKCA-BR 12 121882977 121882977 single base substitution G A intron_variant SKCA-BR 12 121882977 121882977 single base substitution G A upstream_gene_variant SKCA-BR 12 121886121 121886121 single base substitution T C intron_variant SKCA-BR 12 121887111 121887111 single base substitution G A intron_variant SKCA-BR 12 121887747 121887747 single base substitution C T intron_variant SKCA-BR 12 121891827 121891827 single base substitution A C intron_variant SKCA-BR 12 121896326 121896326 single base substitution T G intron_variant SKCA-BR 12 121900819 121900820 deletion of <=200bp CA - intron_variant SKCA-BR 12 121901606 121901606 single base substitution A C intron_variant SKCA-BR 12 121901625 121901625 single base substitution A C intron_variant SKCA-BR 12 121901804 121901804 single base substitution G A intron_variant SKCA-BR 12 121904613 121904613 single base substitution A G intron_variant SKCA-BR 12 121905193 121905193 single base substitution G A exon_variant SKCA-BR 12 121905193 121905193 single base substitution G A intron_variant SKCA-BR 12 121905194 121905194 single base substitution G A exon_variant SKCA-BR 12 121905194 121905194 single base substitution G A intron_variant SKCA-BR 12 121907420 121907421 deletion of <=200bp CA - exon_variant SKCA-BR 12 121907420 121907421 deletion of <=200bp CA - intron_variant SKCA-BR 12 121911523 121911523 insertion of <=200bp - CAA intron_variant SKCA-BR 12 121911523 121911523 insertion of <=200bp - CAA upstream_gene_variant SKCA-BR 12 121911538 121911538 single base substitution G A intron_variant SKCA-BR 12 121911538 121911538 single base substitution G A upstream_gene_variant SKCA-BR 12 121912985 121912989 deletion of <=200bp CTGTG - intron_variant SKCA-BR 12 121912985 121912989 deletion of <=200bp CTGTG - upstream_gene_variant SKCA-BR 12 121913920 121913920 single base substitution A G intron_variant SKCA-BR 12 121914779 121914779 single base substitution C T intron_variant SKCA-BR 12 121915090 121915090 single base substitution G A intron_variant SKCA-BR 12 121916669 121916669 insertion of <=200bp - TTGTTTGTTTGTGTGTGTGTG intron_variant SKCA-BR 12 121917013 121917013 single base substitution G A intron_variant SKCA-BR 12 121917089 121917089 single base substitution A C intron_variant SKCA-BR 12 121918386 121918387 deletion of <=200bp CA - intron_variant SKCA-BR 12 121919347 121919347 single base substitution T G intron_variant SKCA-BR 12 121919566 121919566 insertion of <=200bp - TTTTG intron_variant SKCA-BR 12 121919705 121919705 single base substitution C T intron_variant SKCA-BR 12 121921229 121921229 single base substitution A C intron_variant SKCA-BR 12 121921807 121921807 single base substitution G A intron_variant SKCA-BR 12 121921898 121921898 single base substitution A T intron_variant SKCA-BR 12 121922695 121922695 single base substitution G A intron_variant SKCA-BR 12 121926449 121926449 single base substitution G A intron_variant SKCA-BR 12 121928272 121928272 single base substitution T G downstream_gene_variant SKCA-BR 12 121928272 121928272 single base substitution T G intron_variant SKCA-BR 12 121933722 121933722 single base substitution G A intron_variant SKCA-BR 12 121938605 121938605 single base substitution C A intron_variant SKCA-BR 12 121938742 121938742 single base substitution G A intron_variant SKCA-BR 12 121944489 121944489 single base substitution C T downstream_gene_variant SKCA-BR 12 121944489 121944489 single base substitution C T intron_variant SKCA-BR 12 121947540 121947540 single base substitution T G 3_prime_UTR_variant SKCA-BR 12 121947540 121947540 single base substitution T G downstream_gene_variant SKCA-BR 12 121947540 121947540 single base substitution T G exon_variant SKCA-BR 12 121947540 121947540 single base substitution T G missense_variant T376P 1126A>C SKCA-BR 12 121947540 121947540 single base substitution T G missense_variant T403P 1207A>C SKCA-BR 12 121947540 121947540 single base substitution T G missense_variant T456P 1366A>C SKCA-BR 12 121947540 121947540 single base substitution T G missense_variant T462P 1384A>C SKCA-BR 12 121947540 121947540 single base substitution T G missense_variant T493P 1477A>C SKCA-BR 12 121947540 121947540 single base substitution T G upstream_gene_variant SKCA-BR 12 121948045 121948045 single base substitution A C downstream_gene_variant SKCA-BR 12 121948045 121948045 single base substitution A C intron_variant SKCA-BR 12 121948045 121948045 single base substitution A C upstream_gene_variant SKCA-BR 12 121948605 121948605 single base substitution T A downstream_gene_variant SKCA-BR 12 121948605 121948605 single base substitution T A intron_variant SKCA-BR 12 121948605 121948605 single base substitution T A upstream_gene_variant SKCA-BR 12 121949084 121949084 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 12 121949084 121949084 insertion of <=200bp - AT intron_variant SKCA-BR 12 121949084 121949084 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 12 121949744 121949744 single base substitution A G downstream_gene_variant SKCA-BR 12 121949744 121949744 single base substitution A G intron_variant SKCA-BR 12 121949744 121949744 single base substitution A G upstream_gene_variant SKCA-BR 12 121949765 121949765 single base substitution T G downstream_gene_variant SKCA-BR 12 121949765 121949765 single base substitution T G intron_variant SKCA-BR 12 121949765 121949765 single base substitution T G upstream_gene_variant SKCA-BR 12 121950289 121950289 single base substitution G A downstream_gene_variant SKCA-BR 12 121950289 121950289 single base substitution G A intron_variant SKCA-BR 12 121950289 121950289 single base substitution G A upstream_gene_variant SKCA-BR 12 121951265 121951265 single base substitution G A downstream_gene_variant SKCA-BR 12 121951265 121951265 single base substitution G A intron_variant SKCA-BR 12 121951265 121951265 single base substitution G A upstream_gene_variant SKCA-BR 12 121954799 121954808 deletion of <=200bp TTACCTTTTC - downstream_gene_variant SKCA-BR 12 121954799 121954808 deletion of <=200bp TTACCTTTTC - intron_variant SKCA-BR 12 121956318 121956318 single base substitution C G downstream_gene_variant SKCA-BR 12 121956318 121956318 single base substitution C G intron_variant SKCA-BR 12 121956327 121956327 single base substitution A G downstream_gene_variant SKCA-BR 12 121956327 121956327 single base substitution A G intron_variant SKCA-BR 12 121956332 121956332 single base substitution A C downstream_gene_variant SKCA-BR 12 121956332 121956332 single base substitution A C intron_variant SKCA-BR 12 121956597 121956597 single base substitution G A downstream_gene_variant SKCA-BR 12 121956597 121956597 single base substitution G A intron_variant SKCA-BR 12 121961167 121961167 single base substitution A G intron_variant SKCA-BR 12 121961922 121961922 single base substitution T G intron_variant SKCA-BR 12 121961947 121961947 single base substitution T C intron_variant SKCA-BR 12 121963711 121963711 single base substitution A C intron_variant SKCA-BR 12 121963711 121963711 single base substitution A C upstream_gene_variant SKCA-BR 12 121966232 121966232 single base substitution G A downstream_gene_variant SKCA-BR 12 121966232 121966232 single base substitution G A intron_variant SKCA-BR 12 121966232 121966232 single base substitution G A upstream_gene_variant SKCA-BR 12 121967062 121967062 single base substitution T G downstream_gene_variant SKCA-BR 12 121967062 121967062 single base substitution T G intron_variant SKCA-BR 12 121967062 121967062 single base substitution T G upstream_gene_variant SKCA-BR 12 121975427 121975427 single base substitution T G 5_prime_UTR_variant SKCA-BR 12 121975427 121975427 single base substitution T G intron_variant SKCA-BR 12 121975427 121975427 single base substitution T G upstream_gene_variant SKCA-BR 12 121978531 121978531 single base substitution G A intron_variant SKCA-BR 12 121978531 121978531 single base substitution G A upstream_gene_variant SKCA-BR 12 121980206 121980206 single base substitution C T intron_variant SKCA-BR 12 121980206 121980206 single base substitution C T upstream_gene_variant SKCA-BR 12 121985550 121985551 deletion of <=200bp CT - intron_variant SKCA-BR 12 121988760 121988761 deletion of <=200bp AG - intron_variant SKCA-BR 12 121988760 121988761 deletion of <=200bp AG - upstream_gene_variant SKCA-BR 12 121990581 121990581 insertion of <=200bp - TA intron_variant SKCA-BR 12 121990581 121990581 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 12 121997334 121997334 single base substitution G A intron_variant SKCA-BR 12 121999415 121999415 single base substitution A G intron_variant SKCA-BR 12 122001844 122001844 single base substitution G A intron_variant SKCA-BR 12 122003213 122003213 single base substitution G A intron_variant SKCA-BR 12 122003214 122003214 single base substitution G A intron_variant SKCA-BR 12 122006771 122006773 deletion of <=200bp TAA - intron_variant SKCA-BR 12 122010817 122010817 single base substitution A C downstream_gene_variant SKCA-BR 12 122010817 122010817 single base substitution A C intron_variant SKCA-BR 12 122013205 122013205 single base substitution G A intron_variant SKCA-BR 12 122013839 122013839 single base substitution G A intron_variant SKCA-BR 12 122014412 122014412 single base substitution G A intron_variant SKCA-BR 12 122016285 122016285 single base substitution C T intron_variant SKCA-BR 12 122018503 122018503 single base substitution C G intron_variant SKCA-BR 12 122018503 122018503 single base substitution C G upstream_gene_variant SKCM-US 12 121877844 121877844 single base substitution G A downstream_gene_variant SKCM-US 12 121877844 121877844 single base substitution G A exon_variant SKCM-US 12 121877844 121877844 single base substitution G A intron_variant SKCM-US 12 121877844 121877844 single base substitution G A synonymous_variant I1146I 3438C>T SKCM-US 12 121877844 121877844 single base substitution G A synonymous_variant I1215I 3645C>T SKCM-US 12 121877844 121877844 single base substitution G A synonymous_variant I583I 1749C>T SKCM-US 12 121878617 121878617 single base substitution A C downstream_gene_variant SKCM-US 12 121878617 121878617 single base substitution A C exon_variant SKCM-US 12 121878617 121878617 single base substitution A C intron_variant SKCM-US 12 121878617 121878617 single base substitution A C splice_donor_variant SKCM-US 12 121878938 121878938 single base substitution G A downstream_gene_variant SKCM-US 12 121878938 121878938 single base substitution G A exon_variant SKCM-US 12 121878938 121878938 single base substitution G A intron_variant SKCM-US 12 121878938 121878938 single base substitution G A missense_variant S1059F 3176C>T SKCM-US 12 121878938 121878938 single base substitution G A missense_variant S1128F 3383C>T SKCM-US 12 121878938 121878938 single base substitution G A missense_variant S496F 1487C>T SKCM-US 12 121880145 121880145 single base substitution G A downstream_gene_variant SKCM-US 12 121880145 121880145 single base substitution G A exon_variant SKCM-US 12 121880145 121880145 single base substitution G A intron_variant SKCM-US 12 121880145 121880145 single base substitution G A synonymous_variant P1033P 3099C>T SKCM-US 12 121880145 121880145 single base substitution G A synonymous_variant P401P 1203C>T SKCM-US 12 121880145 121880145 single base substitution G A synonymous_variant P964P 2892C>T SKCM-US 12 121880145 121880145 single base substitution G A upstream_gene_variant SKCM-US 12 121880150 121880150 single base substitution G A downstream_gene_variant SKCM-US 12 121880150 121880150 single base substitution G A exon_variant SKCM-US 12 121880150 121880150 single base substitution G A intron_variant SKCM-US 12 121880150 121880150 single base substitution G A missense_variant P1032S 3094C>T SKCM-US 12 121880150 121880150 single base substitution G A missense_variant P400S 1198C>T SKCM-US 12 121880150 121880150 single base substitution G A missense_variant P963S 2887C>T SKCM-US 12 121880150 121880150 single base substitution G A upstream_gene_variant SKCM-US 12 121880284 121880284 single base substitution G A downstream_gene_variant SKCM-US 12 121880284 121880284 single base substitution G A exon_variant SKCM-US 12 121880284 121880284 single base substitution G A intron_variant SKCM-US 12 121880284 121880284 single base substitution G A missense_variant P355L 1064C>T SKCM-US 12 121880284 121880284 single base substitution G A missense_variant P918L 2753C>T SKCM-US 12 121880284 121880284 single base substitution G A missense_variant P987L 2960C>T SKCM-US 12 121880284 121880284 single base substitution G A upstream_gene_variant SKCM-US 12 121880320 121880320 single base substitution G A downstream_gene_variant SKCM-US 12 121880320 121880320 single base substitution G A exon_variant SKCM-US 12 121880320 121880320 single base substitution G A intron_variant SKCM-US 12 121880320 121880320 single base substitution G A missense_variant S343L 1028C>T SKCM-US 12 121880320 121880320 single base substitution G A missense_variant S906L 2717C>T SKCM-US 12 121880320 121880320 single base substitution G A missense_variant S975L 2924C>T SKCM-US 12 121880320 121880320 single base substitution G A upstream_gene_variant SKCM-US 12 121880394 121880394 single base substitution C T downstream_gene_variant SKCM-US 12 121880394 121880394 single base substitution C T exon_variant SKCM-US 12 121880394 121880394 single base substitution C T intron_variant SKCM-US 12 121880394 121880394 single base substitution C T synonymous_variant L318L 954G>A SKCM-US 12 121880394 121880394 single base substitution C T synonymous_variant L881L 2643G>A SKCM-US 12 121880394 121880394 single base substitution C T synonymous_variant L950L 2850G>A SKCM-US 12 121880394 121880394 single base substitution C T upstream_gene_variant SKCM-US 12 121881908 121881908 single base substitution C T exon_variant SKCM-US 12 121881908 121881908 single base substitution C T intron_variant SKCM-US 12 121881908 121881908 single base substitution C T synonymous_variant P154P 462G>A SKCM-US 12 121881908 121881908 single base substitution C T synonymous_variant P755P 2265G>A SKCM-US 12 121881908 121881908 single base substitution C T synonymous_variant P786P 2358G>A SKCM-US 12 121881908 121881908 single base substitution C T upstream_gene_variant SKCM-US 12 121932414 121932414 single base substitution G A 3_prime_UTR_variant SKCM-US 12 121932414 121932414 single base substitution G A 5_prime_UTR_variant SKCM-US 12 121932414 121932414 single base substitution G A exon_variant SKCM-US 12 121932414 121932414 single base substitution G A missense_variant P451S 1351C>T SKCM-US 12 121932414 121932414 single base substitution G A missense_variant P478S 1432C>T SKCM-US 12 121932414 121932414 single base substitution G A missense_variant P537S 1609C>T SKCM-US 12 121932414 121932414 single base substitution G A missense_variant P568S 1702C>T SKCM-US 12 121932424 121932424 single base substitution G A 3_prime_UTR_variant SKCM-US 12 121932424 121932424 single base substitution G A 5_prime_UTR_variant SKCM-US 12 121932424 121932424 single base substitution G A exon_variant SKCM-US 12 121932424 121932424 single base substitution G A synonymous_variant I447I 1341C>T SKCM-US 12 121932424 121932424 single base substitution G A synonymous_variant I474I 1422C>T SKCM-US 12 121932424 121932424 single base substitution G A synonymous_variant I533I 1599C>T SKCM-US 12 121932424 121932424 single base substitution G A synonymous_variant I564I 1692C>T SKCM-US 12 121932437 121932437 single base substitution G A 3_prime_UTR_variant SKCM-US 12 121932437 121932437 single base substitution G A 5_prime_UTR_variant SKCM-US 12 121932437 121932437 single base substitution G A exon_variant SKCM-US 12 121932437 121932437 single base substitution G A missense_variant P443L 1328C>T SKCM-US 12 121932437 121932437 single base substitution G A missense_variant P470L 1409C>T SKCM-US 12 121932437 121932437 single base substitution G A missense_variant P529L 1586C>T SKCM-US 12 121932437 121932437 single base substitution G A missense_variant P560L 1679C>T SKCM-US 12 121947466 121947466 single base substitution C T 3_prime_UTR_variant SKCM-US 12 121947466 121947466 single base substitution C T 5_prime_UTR_variant SKCM-US 12 121947466 121947466 single base substitution C T downstream_gene_variant SKCM-US 12 121947466 121947466 single base substitution C T exon_variant SKCM-US 12 121947466 121947466 single base substitution C T synonymous_variant L400L 1200G>A SKCM-US 12 121947466 121947466 single base substitution C T synonymous_variant L427L 1281G>A SKCM-US 12 121947466 121947466 single base substitution C T synonymous_variant L480L 1440G>A SKCM-US 12 121947466 121947466 single base substitution C T synonymous_variant L486L 1458G>A SKCM-US 12 121947466 121947466 single base substitution C T synonymous_variant L517L 1551G>A SKCM-US 12 121947613 121947613 single base substitution G A 3_prime_UTR_variant SKCM-US 12 121947613 121947613 single base substitution G A downstream_gene_variant SKCM-US 12 121947613 121947613 single base substitution G A exon_variant SKCM-US 12 121947613 121947613 single base substitution G A synonymous_variant F351F 1053C>T SKCM-US 12 121947613 121947613 single base substitution G A synonymous_variant F378F 1134C>T SKCM-US 12 121947613 121947613 single base substitution G A synonymous_variant F431F 1293C>T SKCM-US 12 121947613 121947613 single base substitution G A synonymous_variant F437F 1311C>T SKCM-US 12 121947613 121947613 single base substitution G A synonymous_variant F468F 1404C>T SKCM-US 12 121947613 121947613 single base substitution G A upstream_gene_variant SKCM-US 12 121970717 121970717 single base substitution G A 3_prime_UTR_variant SKCM-US 12 121970717 121970717 single base substitution G A 5_prime_UTR_variant SKCM-US 12 121970717 121970717 single base substitution G A downstream_gene_variant SKCM-US 12 121970717 121970717 single base substitution G A exon_variant SKCM-US 12 121970717 121970717 single base substitution G A intron_variant SKCM-US 12 121970717 121970717 single base substitution G A missense_variant P192S 574C>T SKCM-US 12 121970717 121970717 single base substitution G A missense_variant P272S 814C>T SKCM-US 12 121970717 121970717 single base substitution G A missense_variant P278S 832C>T SKCM-US 12 121970717 121970717 single base substitution G A missense_variant P309S 925C>T SKCM-US 12 121970717 121970717 single base substitution G A missense_variant P78S 232C>T SKCM-US 12 121970721 121970721 single base substitution G A 3_prime_UTR_variant SKCM-US 12 121970721 121970721 single base substitution G A 5_prime_UTR_variant SKCM-US 12 121970721 121970721 single base substitution G A downstream_gene_variant SKCM-US 12 121970721 121970721 single base substitution G A exon_variant SKCM-US 12 121970721 121970721 single base substitution G A intron_variant SKCM-US 12 121970721 121970721 single base substitution G A synonymous_variant F190F 570C>T SKCM-US 12 121970721 121970721 single base substitution G A synonymous_variant F270F 810C>T SKCM-US 12 121970721 121970721 single base substitution G A synonymous_variant F276F 828C>T SKCM-US 12 121970721 121970721 single base substitution G A synonymous_variant F307F 921C>T SKCM-US 12 121970721 121970721 single base substitution G A synonymous_variant F76F 228C>T SKCM-US 12 121970772 121970772 single base substitution G A 3_prime_UTR_variant SKCM-US 12 121970772 121970772 single base substitution G A 5_prime_UTR_variant SKCM-US 12 121970772 121970772 single base substitution G A exon_variant SKCM-US 12 121970772 121970772 single base substitution G A intron_variant SKCM-US 12 121970772 121970772 single base substitution G A synonymous_variant D173D 519C>T SKCM-US 12 121970772 121970772 single base substitution G A synonymous_variant D253D 759C>T SKCM-US 12 121970772 121970772 single base substitution G A synonymous_variant D259D 777C>T SKCM-US 12 121970772 121970772 single base substitution G A synonymous_variant D290D 870C>T SKCM-US 12 121970772 121970772 single base substitution G A synonymous_variant D59D 177C>T SKCM-US 12 121972449 121972449 single base substitution C A 3_prime_UTR_variant SKCM-US 12 121972449 121972449 single base substitution C A 5_prime_UTR_variant SKCM-US 12 121972449 121972449 single base substitution C A exon_variant SKCM-US 12 121972449 121972449 single base substitution C A missense_variant D127Y 379G>T SKCM-US 12 121972449 121972449 single base substitution C A missense_variant D13Y 37G>T SKCM-US 12 121972449 121972449 single base substitution C A missense_variant D207Y 619G>T SKCM-US 12 121972449 121972449 single base substitution C A missense_variant D213Y 637G>T SKCM-US 12 121972449 121972449 single base substitution C A missense_variant D244Y 730G>T SKCM-US 12 121986849 121986849 insertion of <=200bp - CTGGA 3_prime_UTR_variant SKCM-US 12 121986849 121986849 insertion of <=200bp - CTGGA exon_variant SKCM-US 12 121986849 121986849 insertion of <=200bp - CTGGA frameshift_variant H169LQ? SKCM-US 12 121986849 121986849 insertion of <=200bp - CTGGA frameshift_variant H175LQ? SKCM-US 12 121986849 121986849 insertion of <=200bp - CTGGA frameshift_variant H206LQ? SKCM-US 12 121986849 121986849 insertion of <=200bp - CTGGA frameshift_variant H89LQ? SKCM-US 12 121986882 121986882 single base substitution G A 3_prime_UTR_variant SKCM-US 12 121986882 121986882 single base substitution G A exon_variant SKCM-US 12 121986882 121986882 single base substitution G A synonymous_variant L158L 472C>T SKCM-US 12 121986882 121986882 single base substitution G A synonymous_variant L164L 490C>T SKCM-US 12 121986882 121986882 single base substitution G A synonymous_variant L195L 583C>T SKCM-US 12 121986882 121986882 single base substitution G A synonymous_variant L78L 232C>T SKCM-US 12 122012474 122012474 single base substitution G A exon_variant SKCM-US 12 122012474 122012474 single base substitution G A synonymous_variant V125V 375C>T SKCM-US 12 122012474 122012474 single base substitution G A synonymous_variant V88V 264C>T SKCM-US 12 122012474 122012474 single base substitution G A synonymous_variant V8V 24C>T SKCM-US 12 122012474 122012474 single base substitution G A synonymous_variant V94V 282C>T SKCM-US 12 122018775 122018775 single base substitution G A 5_prime_UTR_variant SKCM-US 12 122018775 122018775 single base substitution G A exon_variant SKCM-US 12 122018775 122018775 single base substitution G A synonymous_variant P14P 42C>T SKCM-US 12 122018775 122018775 single base substitution G A upstream_gene_variant STAD-US 12 121868063 121868063 single base substitution G A 3_prime_UTR_variant STAD-US 12 121868063 121868063 single base substitution G A exon_variant STAD-US 12 121868063 121868063 single base substitution G A intron_variant STAD-US 12 121868159 121868159 single base substitution T C 3_prime_UTR_variant STAD-US 12 121868159 121868159 single base substitution T C exon_variant STAD-US 12 121868159 121868159 single base substitution T C missense_variant I1246V 3736A>G STAD-US 12 121868159 121868159 single base substitution T C missense_variant I1315V 3943A>G STAD-US 12 121868159 121868159 single base substitution T C missense_variant I683V 2047A>G STAD-US 12 121878620 121878620 single base substitution T C downstream_gene_variant STAD-US 12 121878620 121878620 single base substitution T C exon_variant STAD-US 12 121878620 121878620 single base substitution T C intron_variant STAD-US 12 121878620 121878620 single base substitution T C splice_region_variant STAD-US 12 121878950 121878950 single base substitution C T downstream_gene_variant STAD-US 12 121878950 121878950 single base substitution C T exon_variant STAD-US 12 121878950 121878950 single base substitution C T intron_variant STAD-US 12 121878950 121878950 single base substitution C T missense_variant R1055Q 3164G>A STAD-US 12 121878950 121878950 single base substitution C T missense_variant R1124Q 3371G>A STAD-US 12 121878950 121878950 single base substitution C T missense_variant R492Q 1475G>A STAD-US 12 121879010 121879010 single base substitution C T downstream_gene_variant STAD-US 12 121879010 121879010 single base substitution C T exon_variant STAD-US 12 121879010 121879010 single base substitution C T intron_variant STAD-US 12 121879010 121879010 single base substitution C T missense_variant R1035H 3104G>A STAD-US 12 121879010 121879010 single base substitution C T missense_variant R1104H 3311G>A STAD-US 12 121879010 121879010 single base substitution C T missense_variant R472H 1415G>A STAD-US 12 121880054 121880054 single base substitution C T downstream_gene_variant STAD-US 12 121880054 121880054 single base substitution C T exon_variant STAD-US 12 121880054 121880054 single base substitution C T intron_variant STAD-US 12 121880054 121880054 single base substitution C T missense_variant V1064I 3190G>A STAD-US 12 121880054 121880054 single base substitution C T missense_variant V432I 1294G>A STAD-US 12 121880054 121880054 single base substitution C T missense_variant V995I 2983G>A STAD-US 12 121880054 121880054 single base substitution C T upstream_gene_variant STAD-US 12 121880228 121880228 deletion of <=200bp G - downstream_gene_variant STAD-US 12 121880228 121880228 deletion of <=200bp G - exon_variant STAD-US 12 121880228 121880228 deletion of <=200bp G - frameshift_variant R1006 STAD-US 12 121880228 121880228 deletion of <=200bp G - frameshift_variant R374 STAD-US 12 121880228 121880228 deletion of <=200bp G - frameshift_variant R937 STAD-US 12 121880228 121880228 deletion of <=200bp G - intron_variant STAD-US 12 121880228 121880228 deletion of <=200bp G - upstream_gene_variant STAD-US 12 121880281 121880281 deletion of <=200bp G - downstream_gene_variant STAD-US 12 121880281 121880281 deletion of <=200bp G - exon_variant STAD-US 12 121880281 121880281 deletion of <=200bp G - frameshift_variant P356 STAD-US 12 121880281 121880281 deletion of <=200bp G - frameshift_variant P919 STAD-US 12 121880281 121880281 deletion of <=200bp G - frameshift_variant P988 STAD-US 12 121880281 121880281 deletion of <=200bp G - intron_variant STAD-US 12 121880281 121880281 deletion of <=200bp G - upstream_gene_variant STAD-US 12 121881493 121881496 deletion of <=200bp AAGT - downstream_gene_variant STAD-US 12 121881493 121881496 deletion of <=200bp AAGT - exon_variant STAD-US 12 121881493 121881496 deletion of <=200bp AAGT - frameshift_variant YF219 STAD-US 12 121881493 121881496 deletion of <=200bp AAGT - frameshift_variant YF851 STAD-US 12 121881493 121881496 deletion of <=200bp AAGT - intron_variant STAD-US 12 121881493 121881496 deletion of <=200bp AAGT - upstream_gene_variant STAD-US 12 121881856 121881856 single base substitution G A exon_variant STAD-US 12 121881856 121881856 single base substitution G A intron_variant STAD-US 12 121881856 121881856 single base substitution G A missense_variant R172W 514C>T STAD-US 12 121881856 121881856 single base substitution G A missense_variant R773W 2317C>T STAD-US 12 121881856 121881856 single base substitution G A missense_variant R804W 2410C>T STAD-US 12 121881856 121881856 single base substitution G A upstream_gene_variant STAD-US 12 121890960 121890960 single base substitution C T 3_prime_UTR_variant STAD-US 12 121890960 121890960 single base substitution C T exon_variant STAD-US 12 121890960 121890960 single base substitution C T missense_variant R524H 1571G>A STAD-US 12 121890960 121890960 single base substitution C T missense_variant R610H 1829G>A STAD-US 12 121890960 121890960 single base substitution C T missense_variant R641H 1922G>A STAD-US 12 121890960 121890960 single base substitution C T missense_variant R9H 26G>A STAD-US 12 121891034 121891034 single base substitution G A 3_prime_UTR_variant STAD-US 12 121891034 121891034 single base substitution G A 5_prime_UTR_variant STAD-US 12 121891034 121891034 single base substitution G A exon_variant STAD-US 12 121891034 121891034 single base substitution G A synonymous_variant C499C 1497C>T STAD-US 12 121891034 121891034 single base substitution G A synonymous_variant C585C 1755C>T STAD-US 12 121891034 121891034 single base substitution G A synonymous_variant C616C 1848C>T STAD-US 12 121951203 121951203 single base substitution C T downstream_gene_variant STAD-US 12 121951203 121951203 single base substitution C T missense_variant C18Y 53G>A STAD-US 12 121951203 121951203 single base substitution C T splice_region_variant STAD-US 12 121951203 121951203 single base substitution C T upstream_gene_variant STAD-US 12 121958808 121958808 single base substitution C T 3_prime_UTR_variant STAD-US 12 121958808 121958808 single base substitution C T 5_prime_UTR_variant STAD-US 12 121958808 121958808 single base substitution C T downstream_gene_variant STAD-US 12 121958808 121958808 single base substitution C T exon_variant STAD-US 12 121958808 121958808 single base substitution C T intron_variant STAD-US 12 121958808 121958808 single base substitution C T missense_variant E112K 334G>A STAD-US 12 121958808 121958808 single base substitution C T missense_variant E226K 676G>A STAD-US 12 121958808 121958808 single base substitution C T missense_variant E306K 916G>A STAD-US 12 121958808 121958808 single base substitution C T missense_variant E312K 934G>A STAD-US 12 121958808 121958808 single base substitution C T missense_variant E343K 1027G>A STAD-US 12 121958808 121958808 single base substitution C T missense_variant E45K 133G>A STAD-US 12 121958832 121958832 single base substitution C T 3_prime_UTR_variant STAD-US 12 121958832 121958832 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant STAD-US 12 121958832 121958832 single base substitution C T downstream_gene_variant STAD-US 12 121958832 121958832 single base substitution C T exon_variant STAD-US 12 121958832 121958832 single base substitution C T intron_variant STAD-US 12 121958832 121958832 single base substitution C T missense_variant V104M 310G>A STAD-US 12 121958832 121958832 single base substitution C T missense_variant V218M 652G>A STAD-US 12 121958832 121958832 single base substitution C T missense_variant V298M 892G>A STAD-US 12 121958832 121958832 single base substitution C T missense_variant V304M 910G>A STAD-US 12 121958832 121958832 single base substitution C T missense_variant V335M 1003G>A STAD-US 12 121958832 121958832 single base substitution C T missense_variant V37M 109G>A STAD-US 12 121958857 121958857 single base substitution G A 3_prime_UTR_variant STAD-US 12 121958857 121958857 single base substitution G A 5_prime_UTR_variant STAD-US 12 121958857 121958857 single base substitution G A exon_variant STAD-US 12 121958857 121958857 single base substitution G A intron_variant STAD-US 12 121958857 121958857 single base substitution G A synonymous_variant G209G 627C>T STAD-US 12 121958857 121958857 single base substitution G A synonymous_variant G289G 867C>T STAD-US 12 121958857 121958857 single base substitution G A synonymous_variant G28G 84C>T STAD-US 12 121958857 121958857 single base substitution G A synonymous_variant G295G 885C>T STAD-US 12 121958857 121958857 single base substitution G A synonymous_variant G326G 978C>T STAD-US 12 121958857 121958857 single base substitution G A synonymous_variant G95G 285C>T STAD-US 12 121970820 121970820 single base substitution G A 3_prime_UTR_variant STAD-US 12 121970820 121970820 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 12 121970820 121970820 single base substitution G A exon_variant STAD-US 12 121970820 121970820 single base substitution G A intron_variant STAD-US 12 121970820 121970820 single base substitution G A synonymous_variant Y157Y 471C>T STAD-US 12 121970820 121970820 single base substitution G A synonymous_variant Y237Y 711C>T STAD-US 12 121970820 121970820 single base substitution G A synonymous_variant Y243Y 729C>T STAD-US 12 121970820 121970820 single base substitution G A synonymous_variant Y274Y 822C>T STAD-US 12 121970820 121970820 single base substitution G A synonymous_variant Y43Y 129C>T STAD-US 12 121970842 121970842 single base substitution G A 3_prime_UTR_variant STAD-US 12 121970842 121970842 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 12 121970842 121970842 single base substitution G A exon_variant STAD-US 12 121970842 121970842 single base substitution G A intron_variant STAD-US 12 121970842 121970842 single base substitution G A missense_variant T150M 449C>T STAD-US 12 121970842 121970842 single base substitution G A missense_variant T230M 689C>T STAD-US 12 121970842 121970842 single base substitution G A missense_variant T236M 707C>T STAD-US 12 121970842 121970842 single base substitution G A missense_variant T267M 800C>T STAD-US 12 121970842 121970842 single base substitution G A missense_variant T36M 107C>T STAD-US 12 122016814 122016814 single base substitution T C 5_prime_UTR_variant STAD-US 12 122016814 122016814 single base substitution T C exon_variant STAD-US 12 122016814 122016814 single base substitution T C missense_variant D18G 53A>G STAD-US 12 122016814 122016814 single base substitution T C missense_variant D24G 71A>G STAD-US 12 122016814 122016814 single base substitution T C missense_variant D55G 164A>G STAD-US 12 122016842 122016842 single base substitution C A 5_prime_UTR_variant STAD-US 12 122016842 122016842 single base substitution C A exon_variant STAD-US 12 122016842 122016842 single base substitution C A missense_variant D15Y 43G>T STAD-US 12 122016842 122016842 single base substitution C A missense_variant D46Y 136G>T STAD-US 12 122016842 122016842 single base substitution C A missense_variant D9Y 25G>T STAD-US 12 122016853 122016853 single base substitution T C splice_acceptor_variant STAD-US 12 122018691 122018691 single base substitution C A missense_variant Q42H 126G>T STAD-US 12 122018691 122018691 single base substitution C A splice_region_variant STAD-US 12 122018691 122018691 single base substitution C A upstream_gene_variant STAD-US 12 122018740 122018740 deletion of <=200bp T - 5_prime_UTR_variant STAD-US 12 122018740 122018740 deletion of <=200bp T - exon_variant STAD-US 12 122018740 122018740 deletion of <=200bp T - frameshift_variant K26 STAD-US 12 122018740 122018740 deletion of <=200bp T - upstream_gene_variant STAD-US 12 122018773 122018773 deletion of <=200bp G - 5_prime_UTR_variant STAD-US 12 122018773 122018773 deletion of <=200bp G - exon_variant STAD-US 12 122018773 122018773 deletion of <=200bp G - frameshift_variant P15 STAD-US 12 122018773 122018773 deletion of <=200bp G - upstream_gene_variant THCA-SA 12 122018213 122018213 single base substitution C A 5_prime_UTR_variant THCA-SA 12 122018213 122018213 single base substitution C A intron_variant THCA-SA 12 122018213 122018213 single base substitution C A upstream_gene_variant THCA-US 12 121877692 121877692 single base substitution G T downstream_gene_variant THCA-US 12 121877692 121877692 single base substitution G T exon_variant THCA-US 12 121877692 121877692 single base substitution G T intron_variant THCA-US 12 121877692 121877692 single base substitution G T missense_variant T1197N 3590C>A THCA-US 12 121877692 121877692 single base substitution G T missense_variant T1266N 3797C>A THCA-US 12 121877692 121877692 single base substitution G T missense_variant T634N 1901C>A UCEC-US 12 121868162 121868162 single base substitution A G 3_prime_UTR_variant UCEC-US 12 121868162 121868162 single base substitution A G exon_variant UCEC-US 12 121868162 121868162 single base substitution A G missense_variant F1245L 3733T>C UCEC-US 12 121868162 121868162 single base substitution A G missense_variant F1314L 3940T>C UCEC-US 12 121868162 121868162 single base substitution A G missense_variant F682L 2044T>C UCEC-US 12 121877822 121877822 single base substitution G T downstream_gene_variant UCEC-US 12 121877822 121877822 single base substitution G T exon_variant UCEC-US 12 121877822 121877822 single base substitution G T intron_variant UCEC-US 12 121877822 121877822 single base substitution G T missense_variant L1154M 3460C>A UCEC-US 12 121877822 121877822 single base substitution G T missense_variant L1223M 3667C>A UCEC-US 12 121877822 121877822 single base substitution G T missense_variant L591M 1771C>A UCEC-US 12 121878655 121878655 single base substitution G A downstream_gene_variant UCEC-US 12 121878655 121878655 single base substitution G A exon_variant UCEC-US 12 121878655 121878655 single base substitution G A intron_variant UCEC-US 12 121878655 121878655 single base substitution G A missense_variant R1123W 3367C>T UCEC-US 12 121878655 121878655 single base substitution G A missense_variant R1192W 3574C>T UCEC-US 12 121878655 121878655 single base substitution G A missense_variant R560W 1678C>T UCEC-US 12 121878755 121878755 single base substitution G A downstream_gene_variant UCEC-US 12 121878755 121878755 single base substitution G A exon_variant UCEC-US 12 121878755 121878755 single base substitution G A intron_variant UCEC-US 12 121878755 121878755 single base substitution G A synonymous_variant G1089G 3267C>T UCEC-US 12 121878755 121878755 single base substitution G A synonymous_variant G1158G 3474C>T UCEC-US 12 121878755 121878755 single base substitution G A synonymous_variant G526G 1578C>T UCEC-US 12 121880030 121880030 single base substitution C T downstream_gene_variant UCEC-US 12 121880030 121880030 single base substitution C T exon_variant UCEC-US 12 121880030 121880030 single base substitution C T intron_variant UCEC-US 12 121880030 121880030 single base substitution C T missense_variant A1003T 3007G>A UCEC-US 12 121880030 121880030 single base substitution C T missense_variant A1072T 3214G>A UCEC-US 12 121880030 121880030 single base substitution C T missense_variant A440T 1318G>A UCEC-US 12 121880030 121880030 single base substitution C T upstream_gene_variant UCEC-US 12 121880351 121880351 single base substitution G T downstream_gene_variant UCEC-US 12 121880351 121880351 single base substitution G T exon_variant UCEC-US 12 121880351 121880351 single base substitution G T intron_variant UCEC-US 12 121880351 121880351 single base substitution G T missense_variant L333M 997C>A UCEC-US 12 121880351 121880351 single base substitution G T missense_variant L896M 2686C>A UCEC-US 12 121880351 121880351 single base substitution G T missense_variant L965M 2893C>A UCEC-US 12 121880351 121880351 single base substitution G T upstream_gene_variant UCEC-US 12 121880604 121880604 single base substitution C T downstream_gene_variant UCEC-US 12 121880604 121880604 single base substitution C T exon_variant UCEC-US 12 121880604 121880604 single base substitution C T intron_variant UCEC-US 12 121880604 121880604 single base substitution C T synonymous_variant A248A 744G>A UCEC-US 12 121880604 121880604 single base substitution C T synonymous_variant A811A 2433G>A UCEC-US 12 121880604 121880604 single base substitution C T synonymous_variant A880A 2640G>A UCEC-US 12 121880604 121880604 single base substitution C T upstream_gene_variant UCEC-US 12 121881840 121881840 single base substitution G A exon_variant UCEC-US 12 121881840 121881840 single base substitution G A intron_variant UCEC-US 12 121881840 121881840 single base substitution G A missense_variant P177L 530C>T UCEC-US 12 121881840 121881840 single base substitution G A missense_variant P778L 2333C>T UCEC-US 12 121881840 121881840 single base substitution G A missense_variant P809L 2426C>T UCEC-US 12 121881840 121881840 single base substitution G A upstream_gene_variant UCEC-US 12 121947541 121947541 single base substitution C A 3_prime_UTR_variant UCEC-US 12 121947541 121947541 single base substitution C A downstream_gene_variant UCEC-US 12 121947541 121947541 single base substitution C A exon_variant UCEC-US 12 121947541 121947541 single base substitution C A missense_variant K375N 1125G>T UCEC-US 12 121947541 121947541 single base substitution C A missense_variant K402N 1206G>T UCEC-US 12 121947541 121947541 single base substitution C A missense_variant K455N 1365G>T UCEC-US 12 121947541 121947541 single base substitution C A missense_variant K461N 1383G>T UCEC-US 12 121947541 121947541 single base substitution C A missense_variant K492N 1476G>T UCEC-US 12 121947541 121947541 single base substitution C A upstream_gene_variant UCEC-US 12 121947605 121947605 single base substitution C T 3_prime_UTR_variant UCEC-US 12 121947605 121947605 single base substitution C T downstream_gene_variant UCEC-US 12 121947605 121947605 single base substitution C T exon_variant UCEC-US 12 121947605 121947605 single base substitution C T missense_variant R354K 1061G>A UCEC-US 12 121947605 121947605 single base substitution C T missense_variant R381K 1142G>A UCEC-US 12 121947605 121947605 single base substitution C T missense_variant R434K 1301G>A UCEC-US 12 121947605 121947605 single base substitution C T missense_variant R440K 1319G>A UCEC-US 12 121947605 121947605 single base substitution C T missense_variant R471K 1412G>A UCEC-US 12 121947605 121947605 single base substitution C T upstream_gene_variant UCEC-US 12 121958789 121958789 single base substitution C T downstream_gene_variant UCEC-US 12 121958789 121958789 single base substitution C T intron_variant UCEC-US 12 121958789 121958789 single base substitution C T missense_variant R118Q 353G>A UCEC-US 12 121958789 121958789 single base substitution C T missense_variant R232Q 695G>A UCEC-US 12 121958789 121958789 single base substitution C T missense_variant R312Q 935G>A UCEC-US 12 121958789 121958789 single base substitution C T missense_variant R318Q 953G>A UCEC-US 12 121958789 121958789 single base substitution C T missense_variant R349Q 1046G>A UCEC-US 12 121958789 121958789 single base substitution C T missense_variant R51Q 152G>A UCEC-US 12 121958789 121958789 single base substitution C T splice_region_variant UCEC-US 12 121970752 121970752 single base substitution C A 3_prime_UTR_variant UCEC-US 12 121970752 121970752 single base substitution C A 5_prime_UTR_variant UCEC-US 12 121970752 121970752 single base substitution C A exon_variant UCEC-US 12 121970752 121970752 single base substitution C A intron_variant UCEC-US 12 121970752 121970752 single base substitution C A missense_variant R180I 539G>T UCEC-US 12 121970752 121970752 single base substitution C A missense_variant R260I 779G>T UCEC-US 12 121970752 121970752 single base substitution C A missense_variant R266I 797G>T UCEC-US 12 121970752 121970752 single base substitution C A missense_variant R297I 890G>T UCEC-US 12 121970752 121970752 single base substitution C A missense_variant R66I 197G>T UCEC-US 12 121970762 121970762 single base substitution G A 3_prime_UTR_variant UCEC-US 12 121970762 121970762 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 12 121970762 121970762 single base substitution G A exon_variant UCEC-US 12 121970762 121970762 single base substitution G A intron_variant UCEC-US 12 121970762 121970762 single base substitution G A stop_gained R177* 529C>T UCEC-US 12 121970762 121970762 single base substitution G A stop_gained R257* 769C>T UCEC-US 12 121970762 121970762 single base substitution G A stop_gained R263* 787C>T UCEC-US 12 121970762 121970762 single base substitution G A stop_gained R294* 880C>T UCEC-US 12 121970762 121970762 single base substitution G A stop_gained R63* 187C>T UCEC-US 12 121970820 121970820 single base substitution G A 3_prime_UTR_variant UCEC-US 12 121970820 121970820 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 12 121970820 121970820 single base substitution G A exon_variant UCEC-US 12 121970820 121970820 single base substitution G A intron_variant UCEC-US 12 121970820 121970820 single base substitution G A synonymous_variant Y157Y 471C>T UCEC-US 12 121970820 121970820 single base substitution G A synonymous_variant Y237Y 711C>T UCEC-US 12 121970820 121970820 single base substitution G A synonymous_variant Y243Y 729C>T UCEC-US 12 121970820 121970820 single base substitution G A synonymous_variant Y274Y 822C>T UCEC-US 12 121970820 121970820 single base substitution G A synonymous_variant Y43Y 129C>T UCEC-US 12 121986793 121986793 single base substitution C T 3_prime_UTR_variant UCEC-US 12 121986793 121986793 single base substitution C T exon_variant UCEC-US 12 121986793 121986793 single base substitution C T synonymous_variant P107P 321G>A UCEC-US 12 121986793 121986793 single base substitution C T synonymous_variant P187P 561G>A UCEC-US 12 121986793 121986793 single base substitution C T synonymous_variant P193P 579G>A UCEC-US 12 121986793 121986793 single base substitution C T synonymous_variant P224P 672G>A UCEC-US 12 121986816 121986816 single base substitution C T 3_prime_UTR_variant UCEC-US 12 121986816 121986816 single base substitution C T exon_variant UCEC-US 12 121986816 121986816 single base substitution C T missense_variant A100T 298G>A UCEC-US 12 121986816 121986816 single base substitution C T missense_variant A180T 538G>A UCEC-US 12 121986816 121986816 single base substitution C T missense_variant A186T 556G>A UCEC-US 12 121986816 121986816 single base substitution C T missense_variant A217T 649G>A UCEC-US 12 121987468 121987468 single base substitution C T 3_prime_UTR_variant UCEC-US 12 121987468 121987468 single base substitution C T exon_variant UCEC-US 12 121987468 121987468 single base substitution C T missense_variant R121H 362G>A UCEC-US 12 121987468 121987468 single base substitution C T missense_variant R127H 380G>A UCEC-US 12 121987468 121987468 single base substitution C T missense_variant R158H 473G>A UCEC-US 12 121987468 121987468 single base substitution C T missense_variant R41H 122G>A UCEC-US 12 122018742 122018742 single base substitution T G 5_prime_UTR_variant UCEC-US 12 122018742 122018742 single base substitution T G exon_variant UCEC-US 12 122018742 122018742 single base substitution T G missense_variant K25N 75A>C UCEC-US 12 122018742 122018742 single base substitution T G upstream_gene_variant UCEC-US 12 122018753 122018753 single base substitution C A 5_prime_UTR_variant UCEC-US 12 122018753 122018753 single base substitution C A exon_variant UCEC-US 12 122018753 122018753 single base substitution C A stop_gained E22* 64G>T UCEC-US 12 122018753 122018753 single base substitution C A upstream_gene_variant UCEC-US 12 122018756 122018756 single base substitution C T 5_prime_UTR_variant UCEC-US 12 122018756 122018756 single base substitution C T exon_variant UCEC-US 12 122018756 122018756 single base substitution C T missense_variant A21T 61G>A UCEC-US 12 122018756 122018756 single base substitution C T upstream_gene_variant UCEC-US 12 122018804 122018804 single base substitution G C 5_prime_UTR_variant UCEC-US 12 122018804 122018804 single base substitution G C exon_variant UCEC-US 12 122018804 122018804 single base substitution G C missense_variant Q5E 13C>G UCEC-US 12 122018804 122018804 single base substitution G C upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-CF-A3MI-01 COSM1299020 c.2110G>T p.E704* Substitution - Nonsense 12:121444530-121444530 - RK048_C COSM1628422 c.967A>T p.M323L Substitution - Missense 12:121445328-121445328 - HCT8 COSM4633537 c.1585A>G p.K529E Substitution - Missense 12:121442773-121442773 - Pat_22_a COSM5840357 c.1334C>T p.S445L Substitution - Missense 12:121509880-121509880 - WA33 COSM240321 c.450G>T p.E150D Substitution - Missense 12:121509681-121509681 - TCGA-A6-5665-01 COSM1359478 c.2722G>A p.D908N Substitution - Missense 12:121442719-121442719 - Gp2D COSM2175825 c.2251T>C p.S751P Substitution - Missense 12:121441184-121441184 - CSCC-11-T COSM4524781 c.1291G>T p.G431C Substitution - Missense 12:121509923-121509923 - ESO-107 COSM1255484 c.976G>A p.G326S Substitution - Missense 12:121521056-121521056 - TCGA-CD-A4MG-01 COSM3398452 c.839G>A p.R280H Substitution - Missense 12:121453157-121453157 - TCGA-AP-A059-01 COSM936038 c.1810C>A p.L604M Substitution - Missense 12:121442548-121442548 - TCGA-BT-A3PJ-01 COSM3792272 c.3494C>T p.S1165L Substitution - Missense 12:121440932-121440932 - 6115114 COSM5570113 c.610A>C p.T204P Substitution - Missense 12:121494620-121494620 - PD6918a COSM4384802 c.83C>A p.T28K Substitution - Missense 12:121580829-121580829 - PT52 COSM5940281 c.494C>T p.S165F Substitution - Missense 12:121509637-121509637 - PD6186a COSM4384790 c.431A>G p.K144R Substitution - Missense 12:121509700-121509700 - PD6823a COSM4384785 c.2356C>A p.P786T Substitution - Missense 12:121444107-121444107 - TCGA-FS-A4F8-06 COSM3457181 c.2358G>A p.P786P Substitution - coding silent 12:121444105-121444105 - MO_1054 COSM5555149 c.931G>A p.G311S Substitution - Missense 12:121532806-121532806 - TCGA-DD-A1EL-01 COSM4925964 c.134C>A p.S45Y Substitution - Missense 12:121509997-121509997 - TCGA-D3-A1QA-06 COSM3457174 c.1877C>T p.P626L Substitution - Missense 12:121442481-121442481 - RK048_C01 COSM1628420 c.2050A>T p.M684L Substitution - Missense 12:121445328-121445328 - TCGA-AX-A0J1-01 COSM936054 c.649G>A p.A217T Substitution - Missense 12:121548911-121548911 - AA1934 COSM4168963 c.742C>G p.R248G Substitution - Missense 12:121453254-121453254 - TCGA-EV-5901-01 COSM3986706 c.102G>A p.R34R Substitution - coding silent 12:121510029-121510029 - STC297 COSM4694896 c.1933delC p.R645fs*37 Deletion - Frameshift 12:121442425-121442425 - HCC125T COSM5822607 c.1245C>T p.R415R Substitution - coding silent 12:121444135-121444135 - T10 COSM3752976 c.2487G>A p.Q829Q Substitution - coding silent 12:121440856-121440856 - TCGA-BT-A3PJ-01 COSM3792274 c.2411C>T p.S804L Substitution - Missense 12:121440932-121440932 - LIM2405 COSM4641633 c.472C>T p.R158C Substitution - Missense 12:121549564-121549564 - TCGA-AB-2806-03 COSM1318049 c.2858A>G p.E953G Substitution - Missense 12:121442583-121442583 - 2492715 COSM3870945 c.1692C>T p.I564I Substitution - coding silent 12:121494621-121494621 - TCGA-EK-A2R7-01 COSM4852137 c.1699G>A p.E567K Substitution - Missense 12:121442659-121442659 - TCGA-D3-A5GO-06 COSM3457190 c.1551G>A p.L517L Substitution - coding silent 12:121509663-121509663 - CSCC-2-T COSM3457165 c.2562C>T p.I854I Substitution - coding silent 12:121440041-121440041 - HT115 COSM2175999 c.381C>T p.D127D Substitution - coding silent 12:121574563-121574563 - PD8730a COSM4384801 c.83_84delCA p.T28fs*8 Deletion - Frameshift 12:121580828-121580829 - T3064 COSM4694905 c.933C>T p.D311D Substitution - coding silent 12:121445362-121445362 - MO_1012 COSM2175959 c.264G>A p.T88T Substitution - coding silent 12:121509867-121509867 - TCGA-28-5208-01 COSM3398452 c.839G>A p.R280H Substitution - Missense 12:121453157-121453157 - SW48 COSM2175945 c.1561G>A p.V521M Substitution - Missense 12:121509653-121509653 - TCGA-AZ-4615-01 COSM4747820 c.2603delA p.K868fs*66 Deletion - Frameshift 12:121442993-121442993 - PT23_1 COSM5903016 c.3449-5C>T p.? Unknown 12:121440982-121440982 - YUKAT COSM936041 c.2426C>T p.P809L Substitution - Missense 12:121444037-121444037 - EV006-R1 COSM4410864 c.3888delT p.H1297fs*4 Deletion - Frameshift 12:121430411-121430411 - SC_9008 COSM5571567 c.1651G>A p.V551I Substitution - Missense 12:121494662-121494662 - 587234 COSM1211718 c.1871G>A p.C624Y Substitution - Missense 12:121453208-121453208 - TCGA-BS-A0UF-01 COSM936056 c.75A>C p.K25N Substitution - Missense 12:121580837-121580837 - TCGA-28-5213-01 COSM1211713 c.2749G>A p.A917T Substitution - Missense 12:121442692-121442692 - TCGA-A7-A0DB-01 COSM5831997 c.1623_1624insC p.K542fs*76 Insertion - Frameshift 12:121442734-121442735 - ESO-859 COSM1211718 c.1871G>A p.C624Y Substitution - Missense 12:121453208-121453208 - TCGA-A7-A26E-01 COSM1476252 c.2361G>T p.L787L Substitution - coding silent 12:121441074-121441074 - TCGA-AM-5821-01 COSM430544 c.2418C>T p.Y806Y Substitution - coding silent 12:121444045-121444045 - CSCC-11-T COSM4524783 c.208G>T p.G70C Substitution - Missense 12:121509923-121509923 - TCGA-AM-5821-01 COSM3687998 c.56A>G p.H19R Substitution - Missense 12:121580856-121580856 - PASFXA COSM5005897 c.2094T>C p.D698D Substitution - coding silent 12:121442264-121442264 - EV006-R2 COSM4410864 c.3888delT p.H1297fs*4 Deletion - Frameshift 12:121430411-121430411 - LC_S25 COSM1188630 c.1448C>G p.S483C Substitution - Missense 12:121509766-121509766 - WA33 COSM240322 c.1533G>T p.E511D Substitution - Missense 12:121509681-121509681 - TCGA-A2-A0YG-01 COSM430543 c.1576C>T p.R526W Substitution - Missense 12:121442782-121442782 - 2492716 COSM3870945 c.1692C>T p.I564I Substitution - coding silent 12:121494621-121494621 - TCGA-EE-A2A2-06 COSM3457178 c.2850G>A p.L950L Substitution - coding silent 12:121442591-121442591 - TCGA-BR-8590-01 COSM4039493 c.136G>T p.D46Y Substitution - Missense 12:121578937-121578937 - TCGA-B5-A0JY-01 COSM936045 c.1476G>T p.K492N Substitution - Missense 12:121509738-121509738 - I2L-P7-Tumor-Organoid COSM4747822 c.1520delA p.K507fs*66 Deletion - Frameshift 12:121442993-121442993 - T2944 COSM4694909 c.1781C>T p.A594V Substitution - Missense 12:121453298-121453298 - 51T COSM110184 c.401C>T p.T134I Substitution - Missense 12:121509730-121509730 - TCGA-BS-A0UA-01 COSM936053 c.672G>A p.P224P Substitution - coding silent 12:121548888-121548888 - TCGA-D3-A2J9-06 COSM3457193 c.925C>T p.P309S Substitution - Missense 12:121532812-121532812 - TCGA-FW-A3R5-06 COSM3870947 c.609C>T p.I203I Substitution - coding silent 12:121494621-121494621 - NCI-ADR-RES COSM1677415 c.3388G>T p.D1130Y Substitution - Missense 12:121441130-121441130 - TCGA-AN-A0AR-01 COSM430540 c.3387C>A p.L1129L Substitution - coding silent 12:121441131-121441131 - TP_2020 COSM5557571 c.2046C>T p.I682I Substitution - coding silent 12:121442312-121442312 - TCGA-B9-A5W9-01 COSM3986698 c.2434C>T p.L812L Substitution - coding silent 12:121444029-121444029 - TCGA-EL-A3T2-01 COSM3368691 c.2714C>A p.T905N Substitution - Missense 12:121439889-121439889 - TCGA-B9-A5W9-01 COSM3986700 c.1351C>T p.L451L Substitution - coding silent 12:121444029-121444029 - EV006-R2 COSM4410866 c.2805delT p.H936fs*4 Deletion - Frameshift 12:121430411-121430411 - S01861 COSM5671014 c.2198G>A p.R733H Substitution - Missense 12:121444265-121444265 - TCGA-18-3409-01 COSM692638 c.521C>T p.P174L Substitution - Missense 12:121509610-121509610 - CHEWS018 COSM1211717 c.1114C>T p.R372C Substitution - Missense 12:121444266-121444266 - T2944 COSM4694881 c.3948C>A p.A1316A Substitution - coding silent 12:121430351-121430351 - TCGA-BS-A0UV-01 COSM936032 c.2491C>T p.R831W Substitution - Missense 12:121440852-121440852 - I2L-P19Ta-Tumor-Biopsy COSM936051 c.880C>T p.R294* Substitution - Nonsense 12:121532857-121532857 - TCGA-BS-A0UV-01 COSM936027 c.3940T>C p.F1314L Substitution - Missense 12:121430359-121430359 - C086 COSM5533158 c.3714C>T p.P1238P Substitution - coding silent 12:121439972-121439972 - T3152 COSM4694891 c.3016_3017insC p.R1006fs*48 Insertion - Frameshift 12:121442424-121442425 - TCGA-FW-A3R5-06 COSM3870948 c.1404C>T p.F468F Substitution - coding silent 12:121509810-121509810 - EV006-LN1b COSM4410864 c.3888delT p.H1297fs*4 Deletion - Frameshift 12:121430411-121430411 - SW48 COSM1359488 c.77delA p.K26fs*81 Deletion - Frameshift 12:121580835-121580835 - Pat_40_B COSM5480334 c.289G>A p.G97R Substitution - Missense 12:121509842-121509842 - tumor_4188879 COSM5949191 c.1822C>T p.R608W Substitution - Missense 12:121453257-121453257 - T18 COSM5618965 c.3174C>T p.D1058D Substitution - coding silent 12:121442267-121442267 - TCGA-D3-A5GO-06 COSM3457192 c.468G>A p.L156L Substitution - coding silent 12:121509663-121509663 - 587268 COSM1211711 c.2986C>T p.R996C Substitution - Missense 12:121442455-121442455 - TCGA-A7-A26E-01 COSM1476251 c.3444G>T p.L1148L Substitution - coding silent 12:121441074-121441074 - PD6985a COSM4384778 c.2643G>T p.K881N Substitution - Missense 12:121439960-121439960 - RK308_C01 COSM2176007 c.289G>A p.V97I Substitution - Missense 12:121575842-121575842 - TCGA-HU-A4GT-01 COSM4039473 c.2228G>A p.R743H Substitution - Missense 12:121441207-121441207 - TCGA-FW-A3R5-06 COSM3870942 c.3094C>T p.P1032S Substitution - Missense 12:121442347-121442347 - HCT116 COSM2176007 c.289G>A p.V97I Substitution - Missense 12:121575842-121575842 - 2492718 COSM3870945 c.1692C>T p.I564I Substitution - coding silent 12:121494621-121494621 - PT23_1 COSM5903018 c.2366-5C>T p.? Unknown 12:121440982-121440982 - 2293782 COSM4608425 c.1068C>A p.Y356* Substitution - Nonsense 12:121513382-121513382 - TCGA-CF-A3MI-01 COSM1299021 c.1027G>T p.E343* Substitution - Nonsense 12:121444530-121444530 - T3021 COSM4694879 c.2919delA p.K973fs*2 Deletion - Frameshift 12:121430297-121430297 - TCGA-EE-A3AE-06 COSM3457175 c.2924C>T p.S975L Substitution - Missense 12:121442517-121442517 - LUAD_E00623 COSM353795 c.1704G>A p.E568E Substitution - coding silent 12:121442654-121442654 - YUKAT COSM5374416 c.492G>A p.E164E Substitution - coding silent 12:121549544-121549544 - TCGA-CK-5913-01 COSM1359476 c.3146G>T p.S1049I Substitution - Missense 12:121442295-121442295 - LUAD_E00623 COSM353794 c.2787G>A p.E929E Substitution - coding silent 12:121442654-121442654 - TCGA-28-5213-01 COSM1211714 c.1666G>A p.A556T Substitution - Missense 12:121442692-121442692 - ICGC_MB125 COSM3764380 c.1741G>A p.A581T Substitution - Missense 12:121453338-121453338 - TCGA-FV-A23B-01 COSM4913993 c.2424C>A p.S808R Substitution - Missense 12:121440919-121440919 - TCGA-AY-4070-01 COSM301575 c.2356_2357CC>AG p.P786>? Complex 12:121444106-121444107 - PD6751a COSM1637761 c.3483G>A p.W1161* Substitution - Nonsense 12:121440943-121440943 - TCGA-39-5030-01 COSM692631 c.250G>A p.V84M Substitution - Missense 12:121578823-121578823 - KM12 COSM1677420 c.752G>A p.R251Q Substitution - Missense 12:121453244-121453244 - TCGA-FV-A23B-01 COSM4913991 c.3507C>A p.S1169R Substitution - Missense 12:121440919-121440919 - TCGA-IR-A3LK-01 COSM4817690 c.444C>G p.L148L Substitution - coding silent 12:121509687-121509687 - Au4 COSM1211711 c.2986C>T p.R996C Substitution - Missense 12:121442455-121442455 - KM12 COSM1677418 c.1835G>A p.R612Q Substitution - Missense 12:121453244-121453244 - 3N38-VS-3T38 COSM4981323 c.313C>G p.P105A Substitution - Missense 12:121575818-121575818 - SC_9008 COSM5571569 c.568G>A p.V190I Substitution - Missense 12:121494662-121494662 - TCGA-D3-A3C7-06 COSM3457201 c.583C>T p.L195L Substitution - coding silent 12:121548977-121548977 - ESCC_154 COSM5645832 c.1769G>T p.G590V Substitution - Missense 12:121453310-121453310 - TCGA-BR-4292-01 COSM4039470 c.2288G>A p.R763Q Substitution - Missense 12:121441147-121441147 - EV006-LN1a COSM4410864 c.3888delT p.H1297fs*4 Deletion - Frameshift 12:121430411-121430411 - EV006-R3 COSM4410864 c.3888delT p.H1297fs*4 Deletion - Frameshift 12:121430411-121430411 - LIM2405 COSM1359488 c.77delA p.K26fs*81 Deletion - Frameshift 12:121580835-121580835 - ESCC_154 COSM5645834 c.686G>T p.G229V Substitution - Missense 12:121453310-121453310 - AOCS-126-1-5 COSM3980832 c.3610G>C p.G1204R Substitution - Missense 12:121440816-121440816 - 8061105 COSM3384099 c.2396C>T p.S799L Substitution - Missense 12:121440947-121440947 - TCGA-EE-A3AE-06 COSM3457177 c.1841C>T p.S614L Substitution - Missense 12:121442517-121442517 - I2L-P7-Tumor-Organoid COSM4747820 c.2603delA p.K868fs*66 Deletion - Frameshift 12:121442993-121442993 - TCGA-AZ-6598-01 COSM1359475 c.2170_2171delTG p.C724fs*14 Deletion - Frameshift 12:121442187-121442188 - WT052-T1 COSM5352131 c.2534G>A p.W845* Substitution - Nonsense 12:121443711-121443711 - YURAY COSM5374409 c.1249C>T p.Q417* Substitution - Nonsense 12:121509965-121509965 - 587268 COSM1211712 c.1903C>T p.R635C Substitution - Missense 12:121442455-121442455 - PA285 COSM1162990 c.1428G>A p.E476E Substitution - coding silent 12:121509786-121509786 - TCGA-CM-6162-01 COSM1359489 c.68_69insA p.Q24fs*13 Insertion - Frameshift 12:121580843-121580844 - Pat_40_B COSM5480332 c.1372G>A p.G458R Substitution - Missense 12:121509842-121509842 - 6115227 COSM5550586 c.1542C>T p.A514A Substitution - coding silent 12:121442816-121442816 - TCGA-B9-A5W9-01 COSM3986701 c.2433G>T p.E811D Substitution - Missense 12:121444030-121444030 - T3340 COSM4694916 c.566G>A p.R189H Substitution - Missense 12:121549470-121549470 - TCGA-AP-A0LT-01 COSM936055 c.473G>A p.R158H Substitution - Missense 12:121549563-121549563 - 547 COSM5611769 c.107A>C p.E36A Substitution - Missense 12:121580805-121580805 - TCGA-AG-A002-01 COSM289705 c.2459C>T p.S820L Substitution - Missense 12:121443786-121443786 - CHC2115T COSM5352392 c.430_431ins51 p.N144>TP* Complex - insertion inframe 12:121549605-121549606 - TCGA-13-1497-01 COSM75103 c.2587G>T p.D863Y Substitution - Missense 12:121440016-121440016 - 2156 COSM144689 c.360_361insCTGAA p.P121fs*13 Insertion - Frameshift 12:121574583-121574584 - TCGA-F1-A448-01 COSM4039463 c.2860A>G p.I954V Substitution - Missense 12:121430356-121430356 - TCGA-D3-A1QA-06 COSM3457172 c.2960C>T p.P987L Substitution - Missense 12:121442481-121442481 - LUAD-74TBW COSM355022 c.1400G>A p.R467Q Substitution - Missense 12:121509814-121509814 - TCGA-CG-5728-01 COSM4039495 c.127-2A>G p.? Unknown 12:121578948-121578948 - pfg143T COSM1359488 c.77delA p.K26fs*81 Deletion - Frameshift 12:121580835-121580835 - TCGA-IR-A3LK-01 COSM4817688 c.1527C>G p.L509L Substitution - coding silent 12:121509687-121509687 - PASFXA COSM5005895 c.3177T>C p.D1059D Substitution - coding silent 12:121442264-121442264 - SC_9019 COSM5573890 c.1624_1625insC p.K542fs*76 Insertion - Frameshift 12:121442733-121442734 - TCGA-AY-4070-01 COSM301574 c.1273_1274CC>AG p.P425>? Complex 12:121444106-121444107 - HCC107T COSM1605670 c.2362C>A p.P788T Substitution - Missense 12:121441073-121441073 - 76629543 COSM1582123 c.2807G>A p.R936H Substitution - Missense 12:121442634-121442634 - Gp2D COSM2175823 c.3334T>C p.S1112P Substitution - Missense 12:121441184-121441184 - ICGC_MB125 COSM3764382 c.658G>A p.A220T Substitution - Missense 12:121453338-121453338 - YUKAT COSM5374413 c.1102G>A p.E368K Substitution - Missense 12:121513348-121513348 - 8068988 COSM4388262 c.2490G>A p.M830I Substitution - Missense 12:121440853-121440853 - T3064 COSM4694914 c.908G>A p.G303D Substitution - Missense 12:121532829-121532829 - TCGA-DC-5869-01 COSM1211714 c.1666G>A p.A556T Substitution - Missense 12:121442692-121442692 - T2269 COSM4694920 c.438G>T p.Q146H Substitution - Missense 12:121549598-121549598 - HCT116 COSM202480 c.671C>T p.P224L Substitution - Missense 12:121548889-121548889 - LUAD-S01341 COSM396677 c.723C>G p.F241L Substitution - Missense 12:121534551-121534551 - LS411 COSM2175980 c.776delA p.K259fs*5 Deletion - Frameshift 12:121534498-121534498 - TCGA-EE-A181-06 COSM3457195 c.921C>T p.F307F Substitution - coding silent 12:121532816-121532816 - CHEWS031 COSM4575114 c.418G>C p.E140Q Substitution - Missense 12:121509713-121509713 - TCGA-Q1-A6DW-01 COSM4855986 c.1941G>A p.L647L Substitution - coding silent 12:121442417-121442417 - TCGA-18-3419-01 COSM692640 c.2158G>C p.D720H Substitution - Missense 12:121442200-121442200 - 229 COSM4426195 c.2785A>G p.K929E Substitution - Missense 12:121430431-121430431 - TCGA-EI-7002-01 COSM3416558 c.898G>A p.V300M Substitution - Missense 12:121445397-121445397 - 2137 COSM144692 c.3937C>T p.Q1313* Substitution - Nonsense 12:121430362-121430362 - 509T COSM4386176 c.1273C>T p.P425S Substitution - Missense 12:121444107-121444107 - TCGA-C5-A1BQ-01 COSM4842409 c.1264G>C p.E422Q Substitution - Missense 12:121509950-121509950 - S0035 COSM5882196 c.2201+2_2201+8delTGAGCGG p.? Unknown 12:121442149-121442155 - SYN03PT2 COSM1732389 c.745C>T p.R249W Substitution - Missense 12:121453251-121453251 - TARGET-30-PARFWB COSM1285697 c.3081A>G p.P1027P Substitution - coding silent 12:121442360-121442360 - TCGA-BS-A0UV-01 COSM936031 c.3574C>T p.R1192W Substitution - Missense 12:121440852-121440852 - AOCS-134-3-9 COSM3980837 c.210C>T p.G70G Substitution - coding silent 12:121509921-121509921 - TCGA-EE-A2A2-06 COSM3457180 c.1767G>A p.L589L Substitution - coding silent 12:121442591-121442591 - PD6786a COSM4385674 c.1387_1388insC p.G465fs*38 Insertion - Frameshift 12:121443774-121443775 - 278 COSM145539 c.1313A>G p.H438R Substitution - Missense 12:121444067-121444067 - HCT8 COSM4633538 c.509T>C p.L170P Substitution - Missense 12:121549527-121549527 - SNU-C2B COSM2175895 c.2318C>T p.A773V Substitution - Missense 12:121444145-121444145 - YUROG COSM5374418 c.33G>A p.E11E Substitution - coding silent 12:121580879-121580879 - CSCC-44-T COSM4516137 c.525_526GG>AA p.G176S Substitution - Missense 12:121509605-121509606 - 254 COSM3731524 c.777+7T>G p.? Unknown 12:121534490-121534490 - TCGA-AP-A051-01 COSM936034 c.2391C>T p.G797G Substitution - coding silent 12:121440952-121440952 - TCGA-FW-A3R5-06 COSM3870944 c.2011C>T p.P671S Substitution - Missense 12:121442347-121442347 - SJMB105 COSM255246 c.82_83delAC p.T28fs*8 Deletion - Frameshift 12:121580829-121580830 - C086 COSM5533157 c.2507C>T p.P836L Substitution - Missense 12:121440836-121440836 - TCGA-EI-6507-01 COSM5078071 c.1539C>T p.N513N Substitution - coding silent 12:121442819-121442819 - Pat_06_B COSM430542 c.2659C>T p.R887W Substitution - Missense 12:121442782-121442782 - EV006-R6 COSM4410864 c.3888delT p.H1297fs*4 Deletion - Frameshift 12:121430411-121430411 - TCGA-18-3409-01 COSM692637 c.1604C>T p.P535L Substitution - Missense 12:121509610-121509610 - Pat_41_A COSM5840360 c.200G>A p.G67D Substitution - Missense 12:121578873-121578873 - TCGA-02-2486-01 COSM3398446 c.2944G>A p.E982K Substitution - Missense 12:121442497-121442497 - TCGA-EE-A3AG-06 COSM3457187 c.1679C>T p.P560L Substitution - Missense 12:121494634-121494634 - HX34T COSM3703906 c.3223A>T p.S1075C Substitution - Missense 12:121442218-121442218 - TCGA-AM-5821-01 COSM3752977 c.2724C>T p.D908D Substitution - coding silent 12:121442717-121442717 - 2492717 COSM3870947 c.609C>T p.I203I Substitution - coding silent 12:121494621-121494621 - TCGA-BT-A0YX-01 COSM415994 c.1161C>G p.L387L Substitution - coding silent 12:121444219-121444219 - TCGA-AP-A051-01 COSM936051 c.880C>T p.R294* Substitution - Nonsense 12:121532857-121532857 - TCGA-EI-6507-01 COSM5078069 c.2622C>T p.N874N Substitution - coding silent 12:121442819-121442819 - TCGA-BR-8372-01 COSM4039465 c.3609A>G p.P1203P Substitution - coding silent 12:121440817-121440817 - T18 COSM5618967 c.2091C>T p.D697D Substitution - coding silent 12:121442267-121442267 - HCC107 COSM1605670 c.2362C>A p.P788T Substitution - Missense 12:121441073-121441073 - EV006-LN1a COSM4410866 c.2805delT p.H936fs*4 Deletion - Frameshift 12:121430411-121430411 - T475 COSM4694897 c.2375G>A p.R792H Substitution - Missense 12:121444088-121444088 - T368 COSM4745553 c.2163_2164GT>AG p.C722G Substitution - Missense 12:121444476-121444477 - TCGA-CD-A4MG-01 COSM3398450 c.1922G>A p.R641H Substitution - Missense 12:121453157-121453157 - HCC066T COSM5820891 c.799A>T p.T267S Substitution - Missense 12:121532938-121532938 - 229 COSM4426193 c.3868A>G p.K1290E Substitution - Missense 12:121430431-121430431 - sysucc-1972T COSM5480332 c.1372G>A p.G458R Substitution - Missense 12:121509842-121509842 - TCGA-FW-A3R5-06 COSM3870951 c.42C>T p.P14P Substitution - coding silent 12:121580870-121580870 - TCGA-HU-A4GT-01 COSM4039471 c.3311G>A p.R1104H Substitution - Missense 12:121441207-121441207 - 2094 COSM144690 c.1002C>G p.N334K Substitution - Missense 12:121521030-121521030 - cSCCP7 COSM144104 c.4G>A p.A2T Substitution - Missense 12:121580908-121580908 - RK166_C01 COSM1628423 c.352A>G p.M118V Substitution - Missense 12:121574592-121574592 - TCGA-EE-A2GJ-06 COSM3457168 c.2300C>T p.S767F Substitution - Missense 12:121441135-121441135 - TCGA-AX-A0J1-01 COSM936041 c.2426C>T p.P809L Substitution - Missense 12:121444037-121444037 - OVCAR-5 COSM1684351 c.2786_2788delAGA p.K932delK Deletion - In frame 12:121442653-121442655 - PD6786a COSM4385673 c.2470_2471insC p.G826fs*38 Insertion - Frameshift 12:121443774-121443775 - EV006-R4 COSM4410866 c.2805delT p.H936fs*4 Deletion - Frameshift 12:121430411-121430411 - PD7375a COSM4384793 c.377G>A p.R126Q Substitution - Missense 12:121574567-121574567 - TCGA-AX-A0J1-01 COSM936042 c.1343C>T p.P448L Substitution - Missense 12:121444037-121444037 - TCGA-AA-3672-01 COSM266752 c.290T>C p.V97A Substitution - Missense 12:121575841-121575841 - T3021 COSM4694878 c.4002delA p.K1334fs*2 Deletion - Frameshift 12:121430297-121430297 - TCGA-AC-A3TN-01 COSM3811269 c.196G>A p.E66K Substitution - Missense 12:121509935-121509935 - 2492718 COSM3870947 c.609C>T p.I203I Substitution - coding silent 12:121494621-121494621 - TCGA-02-2486-01 COSM3398448 c.1861G>A p.E621K Substitution - Missense 12:121442497-121442497 - ESCC_5 COSM5623122 c.2731delG p.E911fs*29 Deletion - Frameshift 12:121439872-121439872 - TCGA-HU-A4G8-01 COSM936052 c.822C>T p.Y274Y Substitution - coding silent 12:121532915-121532915 - YURAY COSM5374411 c.166C>T p.Q56* Substitution - Nonsense 12:121509965-121509965 - tumor_4188879 COSM5949193 c.739C>T p.R247W Substitution - Missense 12:121453257-121453257 - 545 COSM4694916 c.566G>A p.R189H Substitution - Missense 12:121549470-121549470 - CSCC-2-T COSM3457163 c.3645C>T p.I1215I Substitution - coding silent 12:121440041-121440041 - TCGA-AX-A0J1-01 COSM936058 c.61G>A p.A21T Substitution - Missense 12:121580851-121580851 - sysucc-1972T COSM5480334 c.289G>A p.G97R Substitution - Missense 12:121509842-121509842 - SW48 COSM2175947 c.478G>A p.V160M Substitution - Missense 12:121509653-121509653 - ORL-48 COSM4596684 c.1696C>T p.P566S Substitution - Missense 12:121442662-121442662 - TCGA-BS-A0UF-01 COSM936039 c.2640G>A p.A880A Substitution - coding silent 12:121442801-121442801 - TCGA-A6-6780-01 COSM3687995 c.1829G>A p.R610Q Substitution - Missense 12:121453250-121453250 - TCGA-A6-6780-01 COSM3687997 c.746G>A p.R249Q Substitution - Missense 12:121453250-121453250 - TCGA-AM-5821-01 COSM3752976 c.2487G>A p.Q829Q Substitution - coding silent 12:121440856-121440856 - HCC2998 COSM936050 c.890G>T p.R297I Substitution - Missense 12:121532847-121532847 - TCGA-AX-A0J0-01 COSM936053 c.672G>A p.P224P Substitution - coding silent 12:121548888-121548888 - CPCG0073-F1 COSM4880423 c.2652G>A p.K884K Substitution - coding silent 12:121442789-121442789 - PD7077a COSM4384779 c.3181G>A p.A1061T Substitution - Missense 12:121442260-121442260 - TCGA-A2-A0YK-01 COSM430546 c.615G>A p.Q205Q Substitution - coding silent 12:121548945-121548945 - SH-0622 COSM2175962 c.187_189delGAG p.E63delE Deletion - In frame 12:121509942-121509944 - TCGA-66-2754-01 COSM692641 c.3829G>A p.D1277N Substitution - Missense 12:121439857-121439857 - 278 COSM145540 c.2396A>G p.H799R Substitution - Missense 12:121444067-121444067 - LUAD-S01413 COSM346999 c.130C>G p.P44A Substitution - Missense 12:121578943-121578943 - TCGA-EK-A2R7-01 COSM4852135 c.2782G>A p.E928K Substitution - Missense 12:121442659-121442659 - ESO-866 COSM1255487 c.2736C>A p.I912I Substitution - coding silent 12:121439867-121439867 - HCC107 COSM1605668 c.3445C>A p.P1149T Substitution - Missense 12:121441073-121441073 - TCGA-AM-5821-01 COSM430545 c.1335C>T p.Y445Y Substitution - coding silent 12:121444045-121444045 - PD4123a COSM161881 c.429G>A p.V143V Substitution - coding silent 12:121549607-121549607 - ESCC-240T COSM3935780 c.1549C>T p.R517C Substitution - Missense 12:121442809-121442809 - AOCS-134-3-9 COSM3980835 c.1293C>T p.G431G Substitution - coding silent 12:121509921-121509921 - T2944 COSM4694911 c.698C>T p.A233V Substitution - Missense 12:121453298-121453298 - TCGA-AB-2803-03 COSM1318048 c.1711_1713delAAG p.K571delK Deletion - In frame 12:121442645-121442647 - PD6143a COSM2175808 c.3464T>C p.V1155A Substitution - Missense 12:121440962-121440962 - TCGA-FW-A3R5-06 COSM3870950 c.321C>T p.F107F Substitution - coding silent 12:121509810-121509810 - AOCS-126-1-5 COSM3980834 c.2527G>C p.G843R Substitution - Missense 12:121440816-121440816 - CSCC-35-T COSM4491247 c.376C>T p.R126* Substitution - Nonsense 12:121574568-121574568 - TCGA-AG-3726-01 COSM5067026 c.1020+9C>A p.? Unknown 12:121445266-121445266 - ESCC_10 COSM5623794 c.2777C>G p.S926C Substitution - Missense 12:121430439-121430439 - B86-Tumor COSM3931548 c.793C>T p.P265S Substitution - Missense 12:121532944-121532944 - TCGA-BR-4368-01 COSM4039474 c.3190G>A p.V1064I Substitution - Missense 12:121442251-121442251 - 2027 COSM144690 c.1002C>G p.N334K Substitution - Missense 12:121521030-121521030 - Pat_45_A COSM5840353 c.1685G>A p.G562E Substitution - Missense 12:121442673-121442673 - ESO-0129 COSM1255483 c.700G>A p.V234M Substitution - Missense 12:121534574-121534574 - CSCC-29-T COSM4482957 c.2658C>T p.L886L Substitution - coding silent 12:121442783-121442783 - TCGA-DA-A1IC-06 COSM3457169 c.3099C>T p.P1033P Substitution - coding silent 12:121442342-121442342 - TCGA-AP-A051-01 COSM936057 c.64G>T p.E22* Substitution - Nonsense 12:121580848-121580848 - TCGA-BR-4280-01 COSM4039489 c.800C>T p.T267M Substitution - Missense 12:121532937-121532937 - TCGA-BR-8372-01 COSM4039479 c.1327C>T p.R443W Substitution - Missense 12:121444053-121444053 - 76629543 COSM1582125 c.1724G>A p.R575H Substitution - Missense 12:121442634-121442634 - TCGA-EE-A2GR-06 COSM3870939 c.3610+2T>G p.? Unknown 12:121440814-121440814 - MedB-1 COSM5621085 c.904C>T p.Q302* Substitution - Nonsense 12:121532833-121532833 - TCGA-A5-A0GP-01 COSM936052 c.822C>T p.Y274Y Substitution - coding silent 12:121532915-121532915 - T1743 COSM4694887 c.2444G>A p.R815Q Substitution - Missense 12:121440899-121440899 - TCGA-EL-A3T2-01 COSM3368689 c.3797C>A p.T1266N Substitution - Missense 12:121439889-121439889 - 2492717 COSM3870945 c.1692C>T p.I564I Substitution - coding silent 12:121494621-121494621 - Pat_22_a COSM5840359 c.251C>T p.S84L Substitution - Missense 12:121509880-121509880 - HCC107T COSM1605668 c.3445C>A p.P1149T Substitution - Missense 12:121441073-121441073 - WT052-T1 COSM5352132 c.1451G>A p.W484* Substitution - Nonsense 12:121443711-121443711 - CHOL24 COSM1743612 c.1492C>T p.P498S Substitution - Missense 12:121509722-121509722 - EV006-R15 COSM4410866 c.2805delT p.H936fs*4 Deletion - Frameshift 12:121430411-121430411 - CHEWS018 COSM1211716 c.2197C>T p.R733C Substitution - Missense 12:121444266-121444266 - 587228 COSM1211714 c.1666G>A p.A556T Substitution - Missense 12:121442692-121442692 - 278-01-4TD COSM145539 c.1313A>G p.H438R Substitution - Missense 12:121444067-121444067 - TCGA-HC-7077-01 COSM3670998 c.1623C>T p.P541P Substitution - coding silent 12:121442735-121442735 - TCGA-AZ-4615-01 COSM4747822 c.1520delA p.K507fs*66 Deletion - Frameshift 12:121442993-121442993 - C99 COSM4620318 c.831C>A p.G277G Substitution - coding silent 12:121453165-121453165 - 2492719 COSM3870947 c.609C>T p.I203I Substitution - coding silent 12:121494621-121494621 - TCGA-CK-5915-01 COSM1359470 c.2777C>T p.S926F Substitution - Missense 12:121430439-121430439 - S00829 COSM5659906 c.877-3C>G p.? Unknown 12:121445421-121445421 - TCGA-FS-A1ZF-06 COSM3457166 c.3383C>T p.S1128F Substitution - Missense 12:121441135-121441135 - KM12 COSM1677420 c.752G>A p.R251Q Substitution - Missense 12:121453244-121453244 - 12-P616 COSM4575110 c.2412G>A p.S804S Substitution - coding silent 12:121440931-121440931 - EV006-R15 COSM4410864 c.3888delT p.H1297fs*4 Deletion - Frameshift 12:121430411-121430411 - TCGA-AA-3715-01 COSM269425 c.1368C>A p.A456A Substitution - coding silent 12:121509846-121509846 - HCC125T COSM5822605 c.2328C>T p.R776R Substitution - coding silent 12:121444135-121444135 - SH-0622 COSM2175960 c.1270_1272delGAG p.E424delE Deletion - In frame 12:121509942-121509944 - PT52 COSM5940279 c.1577C>T p.S526F Substitution - Missense 12:121509637-121509637 - 509T COSM4386174 c.2356C>T p.P786S Substitution - Missense 12:121444107-121444107 - 19M COSM5578797 c.2850T>A p.C950* Substitution - Nonsense 12:121430366-121430366 - S0035 COSM5882194 c.3284+2_3284+8delTGAGCGG p.? Unknown 12:121442149-121442155 - TCGA-B5-A0JY-01 COSM936046 c.393G>T p.K131N Substitution - Missense 12:121509738-121509738 - HX34T COSM3703908 c.2140A>T p.S714C Substitution - Missense 12:121442218-121442218 - MO_1012 COSM2175957 c.1347G>A p.T449T Substitution - coding silent 12:121509867-121509867 - 6115114 COSM5570111 c.1693A>C p.T565P Substitution - Missense 12:121494620-121494620 - TARGET-30-PARFWB COSM1285698 c.1998A>G p.P666P Substitution - coding silent 12:121442360-121442360 - ESCC_10 COSM5623792 c.3860C>G p.S1287C Substitution - Missense 12:121430439-121430439 - PD6822a COSM4384795 c.355C>A p.P119T Substitution - Missense 12:121574589-121574589 - TCGA-13-1497-01 COSM4947001 c.3670G>T p.D1224Y Substitution - Missense 12:121440016-121440016 - 6115227 COSM5550584 c.2625C>T p.A875A Substitution - coding silent 12:121442816-121442816 - TCGA-AX-A0J1-01 COSM936035 c.3214G>A p.A1072T Substitution - Missense 12:121442227-121442227 - T3064 COSM4694908 c.713C>T p.A238V Substitution - Missense 12:121453283-121453283 - PT46 COSM5929407 c.1388C>T p.S463F Substitution - Missense 12:121443774-121443774 - TCGA-CG-5723-01 COSM4039483 c.1050G>A p.V350V Substitution - coding silent 12:121513400-121513400 - Gp5D COSM2175823 c.3334T>C p.S1112P Substitution - Missense 12:121441184-121441184 - RK048_C COSM1628420 c.2050A>T p.M684L Substitution - Missense 12:121445328-121445328 - CHOL24 COSM1743614 c.409C>T p.P137S Substitution - Missense 12:121509722-121509722 - pfg143T COSM4747822 c.1520delA p.K507fs*66 Deletion - Frameshift 12:121442993-121442993 - OVCAR-5 COSM1684353 c.1703_1705delAGA p.K571delK Deletion - In frame 12:121442653-121442655 - TCGA-BR-8372-01 COSM4039467 c.2526A>G p.P842P Substitution - coding silent 12:121440817-121440817 - PD6186a COSM4384788 c.1514A>G p.K505R Substitution - Missense 12:121509700-121509700 - C086 COSM5533160 c.2631C>T p.P877P Substitution - coding silent 12:121439972-121439972 - TCGA-F1-6874-01 COSM4039480 c.1848C>T p.C616C Substitution - coding silent 12:121453231-121453231 - TCGA-AM-5821-01 COSM3752979 c.1641C>T p.D547D Substitution - coding silent 12:121442717-121442717 - Au4 COSM1211712 c.1903C>T p.R635C Substitution - Missense 12:121442455-121442455 - Pat_45_A COSM5840351 c.2768G>A p.G923E Substitution - Missense 12:121442673-121442673 - pfg127T COSM4765947 c.1624_1625insCC p.K542fs*32 Insertion - Frameshift 12:121442733-121442734 - 102 COSM5012628 c.2190A>T p.K730N Substitution - Missense 12:121444450-121444450 - EV006-R7 COSM4410864 c.3888delT p.H1297fs*4 Deletion - Frameshift 12:121430411-121430411 - LS411 COSM2175986 c.686A>G p.Y229C Substitution - Missense 12:121534588-121534588 - AA1934 COSM4168961 c.1825C>G p.R609G Substitution - Missense 12:121453254-121453254 - T3152 COSM4694893 c.1933_1934insC p.R645fs*48 Insertion - Frameshift 12:121442424-121442425 - TCGA-BR-4368-01 COSM4039476 c.2107G>A p.V703I Substitution - Missense 12:121442251-121442251 - T3064 COSM4694903 c.2016C>T p.D672D Substitution - coding silent 12:121445362-121445362 - PT46 COSM5929406 c.2471C>T p.S824F Substitution - Missense 12:121443774-121443774 - TCGA-A2-A0YG-01 COSM430542 c.2659C>T p.R887W Substitution - Missense 12:121442782-121442782 - T3535 COSM4694902 c.1066T>C p.W356R Substitution - Missense 12:121444491-121444491 - SNU-C2B COSM2175897 c.1235C>T p.A412V Substitution - Missense 12:121444145-121444145 - CHEWS031 COSM4575112 c.1501G>C p.E501Q Substitution - Missense 12:121509713-121509713 - TCGA-EE-A2GJ-06 COSM3457166 c.3383C>T p.S1128F Substitution - Missense 12:121441135-121441135 - TCGA-22-4601-01 COSM692634 c.1045C>A p.R349R Substitution - coding silent 12:121520987-121520987 - T3724 COSM4694894 c.3016delC p.R1006fs*37 Deletion - Frameshift 12:121442425-121442425 - SNU-C4 COSM4652148 c.2196C>T p.N732N Substitution - coding silent 12:121442162-121442162 - 8068988 COSM4388260 c.3573G>A p.M1191I Substitution - Missense 12:121440853-121440853 - TCGA-FD-A3N5-01 COSM1299022 c.1282G>T p.E428* Substitution - Nonsense 12:121509932-121509932 - TCGA-AX-A0J1-01 COSM936047 c.1412G>A p.R471K Substitution - Missense 12:121509802-121509802 - ESO-721 COSM1255485 c.765C>T p.F255F Substitution - coding silent 12:121534509-121534509 - TCGA-A5-A0VQ-01 COSM936053 c.672G>A p.P224P Substitution - coding silent 12:121548888-121548888 - TCGA-BR-7707-01 COSM4039497 c.126G>T p.Q42H Substitution - Missense 12:121580786-121580786 - sysucc-311T COSM5478024 c.100T>G p.C34G Substitution - Missense 12:121580812-121580812 - 1517_PT COSM5753887 c.2913G>A p.L971L Substitution - coding silent 12:121430303-121430303 - 71 COSM5744474 c.1867G>A p.E623K Substitution - Missense 12:121453212-121453212 - PD6897a COSM4384799 c.139C>T p.R47C Substitution - Missense 12:121578934-121578934 - LUAD-VUMN6 COSM347815 c.1755G>C p.L585L Substitution - coding silent 12:121442603-121442603 - ESCC_77 COSM5635324 c.1281C>T p.D427D Substitution - coding silent 12:121444099-121444099 - TCGA-AA-3715-01 COSM269424 c.285C>A p.A95A Substitution - coding silent 12:121509846-121509846 - C086 COSM5533161 c.1488C>T p.G496G Substitution - coding silent 12:121509726-121509726 - Pat_28_B COSM5840350 c.2050C>T p.P684S Substitution - Missense 12:121442308-121442308 - 2_PRE-TREATMENT COSM1722127 c.933T>C p.G311G Substitution - coding silent 12:121521099-121521099 - CRC-16T COSM5452966 c.417C>A p.D139E Substitution - Missense 12:121549619-121549619 - 587316 COSM1211715 c.256G>A p.A86T Substitution - Missense 12:121578817-121578817 - TCGA-AX-A0J1-01 COSM936048 c.329G>A p.R110K Substitution - Missense 12:121509802-121509802 - TCGA-BT-A0YX-01 COSM415993 c.2244C>G p.L748L Substitution - coding silent 12:121444219-121444219 - TCGA-AP-A051-01 COSM936029 c.3667C>A p.L1223M Substitution - Missense 12:121440019-121440019 - HCT-116 COSM202480 c.671C>T p.P224L Substitution - Missense 12:121548889-121548889 - TCGA-EV-5901-01 COSM3986704 c.1185G>A p.R395R Substitution - coding silent 12:121510029-121510029 - TCGA-A7-A0DB-01 COSM5831995 c.2706_2707insC p.K903fs*76 Insertion - Frameshift 12:121442734-121442735 - SC_9047 COSM5554152 c.1072T>C p.F358L Substitution - Missense 12:121513378-121513378 - ESCC_5 COSM5623120 c.3814delG p.E1272fs*29 Deletion - Frameshift 12:121439872-121439872 - TCGA-AP-A059-01 COSM936037 c.2893C>A p.L965M Substitution - Missense 12:121442548-121442548 - ESO-859 COSM1211719 c.788G>A p.C263Y Substitution - Missense 12:121453208-121453208 - TCGA-BR-4361-01 COSM2175974 c.978C>T p.G326G Substitution - coding silent 12:121521054-121521054 - TP_2020 COSM5557569 c.3129C>T p.I1043I Substitution - coding silent 12:121442312-121442312 - TCGA-B9-A5W9-01 COSM3986703 c.1350G>T p.E450D Substitution - Missense 12:121444030-121444030 - EV006-LN1b COSM4410866 c.2805delT p.H936fs*4 Deletion - Frameshift 12:121430411-121430411 - Pat_41_B COSM5840354 c.2353G>A p.V785M Substitution - Missense 12:121444110-121444110 - TCGA-EI-7002-01 COSM3416556 c.1981G>A p.V661M Substitution - Missense 12:121445397-121445397 - LUAD-74TBW COSM355023 c.317G>A p.R106Q Substitution - Missense 12:121509814-121509814 - 51 COSM5734628 c.3836A>G p.N1279S Substitution - Missense 12:121430463-121430463 - TCGA-DC-5869-01 COSM1211713 c.2749G>A p.A917T Substitution - Missense 12:121442692-121442692 - T3203 COSM4694890 c.1943G>A p.R648Q Substitution - Missense 12:121442415-121442415 - TCGA-EK-A3GJ-01 COSM4852329 c.2866G>A p.E956K Substitution - Missense 12:121430350-121430350 - Pat_41_B COSM5840356 c.1270G>A p.V424M Substitution - Missense 12:121444110-121444110 - TCGA-CK-5913-01 COSM1359477 c.2063G>T p.S688I Substitution - Missense 12:121442295-121442295 - SNU-C4 COSM4652146 c.3279C>T p.N1093N Substitution - coding silent 12:121442162-121442162 - TCGA-66-2754-01 COSM692642 c.2746G>A p.D916N Substitution - Missense 12:121439857-121439857 - TCGA-CK-5915-01 COSM1359469 c.3860C>T p.S1287F Substitution - Missense 12:121430439-121430439 - 2492719 COSM3870945 c.1692C>T p.I564I Substitution - coding silent 12:121494621-121494621 - TCGA-CM-5868-01 COSM1359487 c.85_88delGTTA p.V29fs*77 Deletion - Frameshift 12:121580824-121580827 - PCSI_0127_Pa_P COSM3376149 c.1155G>C p.Q385H Substitution - Missense 12:121513295-121513295 - KM12 COSM2176021 c.77_78insA p.K27fs*10 Insertion - Frameshift 12:121580834-121580835 - TCGA-A6-5665-01 COSM1359479 c.1639G>A p.D547N Substitution - Missense 12:121442719-121442719 - EV006-R7 COSM4410866 c.2805delT p.H936fs*4 Deletion - Frameshift 12:121430411-121430411 - 102 COSM5012630 c.1107A>T p.K369N Substitution - Missense 12:121444450-121444450 - TCGA-AP-A051-01 COSM936033 c.3474C>T p.G1158G Substitution - coding silent 12:121440952-121440952 - TCGA-E9-A3QA-01 COSM3811265 c.2893C>A p.Q965K Substitution - Missense 12:121430323-121430323 - SC_9019 COSM5573888 c.2707_2708insC p.K903fs*76 Insertion - Frameshift 12:121442733-121442734 - C086 COSM5533155 c.3590C>T p.P1197L Substitution - Missense 12:121440836-121440836 - TCGA-HC-7077-01 COSM3670996 c.2706C>T p.P902P Substitution - coding silent 12:121442735-121442735 - PD7372a COSM4384782 c.2914C>T p.P972S Substitution - Missense 12:121442527-121442527 - PA285 COSM1162991 c.345G>A p.E115E Substitution - coding silent 12:121509786-121509786 - 2492716 COSM3870947 c.609C>T p.I203I Substitution - coding silent 12:121494621-121494621 - TCGA-BR-8487-01 COSM4039487 c.1003G>A p.V335M Substitution - Missense 12:121521029-121521029 - S00829 COSM5659904 c.1960-3C>G p.? Unknown 12:121445421-121445421 - 278-01-4TD COSM145540 c.2396A>G p.H799R Substitution - Missense 12:121444067-121444067 - TCGA-AA-3697-01 COSM1359472 c.3692G>A p.R1231Q Substitution - Missense 12:121439994-121439994 - 29T COSM3710703 c.443G>T p.G148V Substitution - Missense 12:121549593-121549593 - TCGA-AM-5821-01 COSM3752974 c.3570G>A p.Q1190Q Substitution - coding silent 12:121440856-121440856 - PD6985a COSM4384776 c.3726G>T p.K1242N Substitution - Missense 12:121439960-121439960 - HCT8 COSM4633535 c.2668A>G p.K890E Substitution - Missense 12:121442773-121442773 - EV006-R6 COSM4410866 c.2805delT p.H936fs*4 Deletion - Frameshift 12:121430411-121430411 - YUKAT COSM5374415 c.19G>A p.E7K Substitution - Missense 12:121513348-121513348 - HCC17 COSM3703909 c.648C>T p.N216N Substitution - coding silent 12:121548912-121548912 - TCGA-AX-A0J1-01 COSM936049 c.1046G>A p.R349Q Substitution - Missense 12:121520986-121520986 - sysucc-1370T COSM5469901 c.3016C>T p.R1006W Substitution - Missense 12:121442425-121442425 - ESCC-D21 COSM5046109 c.3226T>C p.Y1076H Substitution - Missense 12:121442215-121442215 - TCGA-D3-A51E-06 COSM3457186 c.619C>T p.P207S Substitution - Missense 12:121494611-121494611 - TCGA-EE-A2MS-06 COSM3457163 c.3645C>T p.I1215I Substitution - coding silent 12:121440041-121440041 - TCGA-FS-A4F8-06 COSM3457183 c.1275G>A p.P425P Substitution - coding silent 12:121444105-121444105 - 8069446 COSM4388588 c.1483A>C p.T495P Substitution - Missense 12:121509731-121509731 - RK048_C01 COSM1628422 c.967A>T p.M323L Substitution - Missense 12:121445328-121445328 - T3203 COSM4694888 c.3026G>A p.R1009Q Substitution - Missense 12:121442415-121442415 - 19M COSM5578795 c.3933T>A p.C1311* Substitution - Nonsense 12:121430366-121430366 - 2328683 COSM2176021 c.77_78insA p.K27fs*10 Insertion - Frameshift 12:121580834-121580835 - SNU-175 COSM4650295 c.1522C>T p.R508W Substitution - Missense 12:121442836-121442836 - TCGA-BS-A0UV-01 COSM936028 c.2857T>C p.F953L Substitution - Missense 12:121430359-121430359 - 40M COSM5585562 c.542C>T p.T181I Substitution - Missense 12:121549494-121549494 - S01861 COSM5671016 c.1115G>A p.R372H Substitution - Missense 12:121444265-121444265 - HCC125T COSM5244665 c.1244G>C p.R415P Substitution - Missense 12:121444136-121444136 - PD7372a COSM4384784 c.1831C>T p.P611S Substitution - Missense 12:121442527-121442527 - SNU-175 COSM4650293 c.2605C>T p.R869W Substitution - Missense 12:121442836-121442836 - TCGA-Q1-A6DW-01 COSM4855984 c.3024G>A p.L1008L Substitution - coding silent 12:121442417-121442417 - TCGA-33-4583-01 COSM692633 c.945C>T p.A315A Substitution - coding silent 12:121521087-121521087 - TCGA-EE-A3AC-06 COSM3457197 c.870C>T p.D290D Substitution - coding silent 12:121532867-121532867 - RK308_C01 COSM3739471 c.1914C>G p.G638G Substitution - coding silent 12:121453165-121453165 - T10 COSM3752974 c.3570G>A p.Q1190Q Substitution - coding silent 12:121440856-121440856 - Gp5D COSM2175825 c.2251T>C p.S751P Substitution - Missense 12:121441184-121441184 - 587228 COSM1211713 c.2749G>A p.A917T Substitution - Missense 12:121442692-121442692 - TCGA-EK-A3GJ-01 COSM4852327 c.3949G>A p.E1317K Substitution - Missense 12:121430350-121430350 - TCGA-AP-A051-01 COSM936030 c.2584C>A p.L862M Substitution - Missense 12:121440019-121440019 - CPCG0073-F1 COSM4880425 c.1569G>A p.K523K Substitution - coding silent 12:121442789-121442789 - TCGA-EE-A3AG-06 COSM3457199 c.730G>T p.D244Y Substitution - Missense 12:121534544-121534544 - T3535 COSM4694900 c.2149T>C p.W717R Substitution - Missense 12:121444491-121444491 - TCGA-FD-A3N5-01 COSM1299023 c.199G>T p.E67* Substitution - Nonsense 12:121509932-121509932 - HCC125T COSM5244663 c.2327G>C p.R776P Substitution - Missense 12:121444136-121444136 - EV006-R1 COSM4410866 c.2805delT p.H936fs*4 Deletion - Frameshift 12:121430411-121430411 - pfg143T COSM4747820 c.2603delA p.K868fs*66 Deletion - Frameshift 12:121442993-121442993 - CSCC-44-T COSM4516135 c.1608_1609GG>AA p.G537S Substitution - Missense 12:121509605-121509606 - TCGA-BP-4761-01 COSM3359585 c.334G>T p.D112Y Substitution - Missense 12:121575797-121575797 - ORL-48 COSM4596682 c.2779C>T p.P927S Substitution - Missense 12:121442662-121442662 - TCGA-HT-8563-01 COSM3968032 c.368T>G p.F123C Substitution - Missense 12:121574576-121574576 - TCGA-D3-A51E-06 COSM3457184 c.1702C>T p.P568S Substitution - Missense 12:121494611-121494611 - ESCC-D21 COSM5046111 c.2143T>C p.Y715H Substitution - Missense 12:121442215-121442215 - TCGA-AC-A3TN-01 COSM3811267 c.1279G>A p.E427K Substitution - Missense 12:121509935-121509935 - EV006-R4 COSM4410864 c.3888delT p.H1297fs*4 Deletion - Frameshift 12:121430411-121430411 - EV006-R3 COSM4410866 c.2805delT p.H936fs*4 Deletion - Frameshift 12:121430411-121430411 - NCI-H322M COSM1677422 c.542C>A p.T181N Substitution - Missense 12:121549494-121549494 - TCGA-18-3409-01 COSM692632 c.650C>T p.A217V Substitution - Missense 12:121548910-121548910 - PD7040a COSM4384775 c.2672C>T p.T891I Substitution - Missense 12:121439931-121439931 - STC297 COSM4694894 c.3016delC p.R1006fs*37 Deletion - Frameshift 12:121442425-121442425 - Pat_06_B COSM430543 c.1576C>T p.R526W Substitution - Missense 12:121442782-121442782 - TCGA-G7-6793-01 COSM3986708 c.137A>G p.D46G Substitution - Missense 12:121578936-121578936 - pfg127T COSM4765942 c.3153_3154insC p.D1053fs*1 Insertion - Frameshift 12:121442287-121442288 - 1517_CLM COSM5753887 c.2913G>A p.L971L Substitution - coding silent 12:121430303-121430303 - 3006_T COSM3954293 c.398-1G>A p.? Unknown 12:121549639-121549639 - 8069446 COSM4388590 c.400A>C p.T134P Substitution - Missense 12:121509731-121509731 - T368 COSM4745555 c.1080_1081GT>AG p.C361G Substitution - Missense 12:121444476-121444477 - TCGA-28-5208-01 COSM3398450 c.1922G>A p.R641H Substitution - Missense 12:121453157-121453157 - T3064 COSM4694906 c.1796C>T p.A599V Substitution - Missense 12:121453283-121453283 - LC_S25 COSM1188631 c.365C>G p.S122C Substitution - Missense 12:121509766-121509766 - TCGA-AX-A0J1-01 COSM936036 c.2131G>A p.A711T Substitution - Missense 12:121442227-121442227 - TCGA-BR-6452-01 COSM4039491 c.164A>G p.D55G Substitution - Missense 12:121578909-121578909 - TCGA-A5-A0GM-01 COSM936059 c.13C>G p.Q5E Substitution - Missense 12:121580899-121580899 - PD6823a COSM4384787 c.1273C>A p.P425T Substitution - Missense 12:121444107-121444107 - PD6751a COSM1637763 c.2400G>A p.W800* Substitution - Nonsense 12:121440943-121440943 - ESO-866 COSM1255486 c.3819C>A p.I1273I Substitution - coding silent 12:121439867-121439867 - 1517_CLM COSM5753886 c.3996G>A p.L1332L Substitution - coding silent 12:121430303-121430303 - 2492715 COSM3870947 c.609C>T p.I203I Substitution - coding silent 12:121494621-121494621 - T3724 COSM4694896 c.1933delC p.R645fs*37 Deletion - Frameshift 12:121442425-121442425 - TCGA-18-3419-01 COSM692639 c.3241G>C p.D1081H Substitution - Missense 12:121442200-121442200 - TCGA-E9-A3QA-01 COSM3811264 c.3976C>A p.Q1326K Substitution - Missense 12:121430323-121430323 - 12-P616 COSM4575108 c.3495G>A p.S1165S Substitution - coding silent 12:121440931-121440931 - T3503 COSM4694918 c.517G>A p.V173I Substitution - Missense 12:121549519-121549519 - Pat_28_B COSM5840348 c.3133C>T p.P1045S Substitution - Missense 12:121442308-121442308 - TCGA-EE-A3AG-06 COSM3457189 c.596C>T p.P199L Substitution - Missense 12:121494634-121494634 - TCGA-C5-A1BQ-01 COSM4842411 c.181G>C p.E61Q Substitution - Missense 12:121509950-121509950 - S02296 COSM5689376 c.480C>G p.Y160* Substitution - Nonsense 12:121549556-121549556 - ESCC_77 COSM5635322 c.2364C>T p.D788D Substitution - coding silent 12:121444099-121444099 - sysucc-1370T COSM5469903 c.1933C>T p.R645W Substitution - Missense 12:121442425-121442425 - ESCC-240T COSM3935778 c.2632C>T p.R878C Substitution - Missense 12:121442809-121442809 - T1844 COSM4694912 c.930C>T p.S310S Substitution - coding silent 12:121532807-121532807 - T475 COSM4694899 c.1292G>A p.R431H Substitution - Missense 12:121444088-121444088 - TCGA-A6-6781-01 COSM1359488 c.77delA p.K26fs*81 Deletion - Frameshift 12:121580835-121580835 - TCGA-BR-8078-01 COSM4039485 c.1027G>A p.E343K Substitution - Missense 12:121521005-121521005 - TCGA-FS-A1ZF-06 COSM3457168 c.2300C>T p.S767F Substitution - Missense 12:121441135-121441135 - TCGA-AA-3848-01 COSM295468 c.196C>T p.R66C Substitution - Missense 12:121578877-121578877 - 51 COSM5734630 c.2753A>G p.N918S Substitution - Missense 12:121430463-121430463 - TCGA-BS-A0UF-01 COSM936040 c.1557G>A p.A519A Substitution - coding silent 12:121442801-121442801 - TCGA-BR-4292-01 COSM4039468 c.3371G>A p.R1124Q Substitution - Missense 12:121441147-121441147 - 71 COSM5744476 c.784G>A p.E262K Substitution - Missense 12:121453212-121453212 - T3152 COSM1211717 c.1114C>T p.R372C Substitution - Missense 12:121444266-121444266 - TCGA-AA-3663-01 COSM1359490 c.44delC p.P15fs*92 Deletion - Frameshift 12:121580868-121580868 - SYN03PT2 COSM1732387 c.1828C>T p.R610W Substitution - Missense 12:121453251-121453251 - PD6920a COSM4384791 c.609G>T p.W203C Substitution - Missense 12:121548951-121548951 - TCGA-F1-A448-01 COSM4039461 c.3943A>G p.I1315V Substitution - Missense 12:121430356-121430356 - TCGA-AG-A002-01 COSM289704 c.1376C>T p.S459L Substitution - Missense 12:121443786-121443786 - pfg127T COSM4765945 c.2707_2708insCC p.K903fs*32 Insertion - Frameshift 12:121442733-121442734 - CSCC-29-T COSM4482959 c.1575C>T p.L525L Substitution - coding silent 12:121442783-121442783 - 587234 COSM1211719 c.788G>A p.C263Y Substitution - Missense 12:121453208-121453208 - PD7040a COSM4384773 c.3755C>T p.T1252I Substitution - Missense 12:121439931-121439931 - TCGA-DA-A1IC-06 COSM3457171 c.2016C>T p.P672P Substitution - coding silent 12:121442342-121442342 - TCGA-EE-A2MS-06 COSM3457165 c.2562C>T p.I854I Substitution - coding silent 12:121440041-121440041 - TCGA-AP-A056-01 COSM936050 c.890G>T p.R297I Substitution - Missense 12:121532847-121532847 - YUKAT COSM936042 c.1343C>T p.P448L Substitution - Missense 12:121444037-121444037 - PCSI_0127_Pa_P COSM3376151 c.72G>C p.Q24H Substitution - Missense 12:121513295-121513295 - TCGA-D3-A2J8-06 COSM3457203 c.375C>T p.V125V Substitution - coding silent 12:121574569-121574569 - TCGA-AN-A0AR-01 COSM430541 c.2304C>A p.L768L Substitution - coding silent 12:121441131-121441131 - PD7095a COSM4384797 c.244G>T p.D82Y Substitution - Missense 12:121578829-121578829 - T2944 COSM4694883 c.2865C>A p.A955A Substitution - coding silent 12:121430351-121430351 - LUAD-VUMN6 COSM347814 c.2838G>C p.L946L Substitution - coding silent 12:121442603-121442603 - PD6143a COSM2175810 c.2381T>C p.V794A Substitution - Missense 12:121440962-121440962 - BD124T COSM5493049 c.175G>A p.V59M Substitution - Missense 12:121578898-121578898 - NCI-ADR-RES COSM1677417 c.2305G>T p.D769Y Substitution - Missense 12:121441130-121441130 - RK308_C01 COSM3739473 c.831C>G p.G277G Substitution - coding silent 12:121453165-121453165 - TCGA-DD-A1EL-01 COSM4925962 c.1217C>A p.S406Y Substitution - Missense 12:121509997-121509997 - I2L-P19Ta-Tumor-Organoid COSM936051 c.880C>T p.R294* Substitution - Nonsense 12:121532857-121532857 - TCGA-BR-8372-01 COSM4039477 c.2410C>T p.R804W Substitution - Missense 12:121444053-121444053 - T3152 COSM1211716 c.2197C>T p.R733C Substitution - Missense 12:121444266-121444266 - 587284 COSM1211716 c.2197C>T p.R733C Substitution - Missense 12:121444266-121444266 - TCGA-F1-6874-01 COSM4039482 c.765C>T p.C255C Substitution - coding silent 12:121453231-121453231 - TCGA-AA-3697-01 COSM1359473 c.2609G>A p.R870Q Substitution - Missense 12:121439994-121439994 - OSCC-GB_00290111 COSM3710703 c.443G>T p.G148V Substitution - Missense 12:121549593-121549593 - 1517_PT COSM5753886 c.3996G>A p.L1332L Substitution - coding silent 12:121430303-121430303 - LUAD-RT-S01699 COSM378176 c.624G>A p.K208K Substitution - coding silent 12:121548936-121548936 - TCGA-AB-2806-03 COSM1318050 c.1775A>G p.E592G Substitution - Missense 12:121442583-121442583 - HT115 COSM2176011 c.249C>T p.F83F Substitution - coding silent 12:121578824-121578824 - PD7077a COSM4384781 c.2098G>A p.A700T Substitution - Missense 12:121442260-121442260 - T1743 COSM4694885 c.3527G>A p.R1176Q Substitution - Missense 12:121440899-121440899 - 8061105 COSM3384097 c.3479C>T p.S1160L Substitution - Missense 12:121440947-121440947 - HCC2998 COSM936050 c.890G>T p.R297I Substitution - Missense 12:121532847-121532847 - KM12 COSM1677418 c.1835G>A p.R612Q Substitution - Missense 12:121453244-121453244 - T2269 COSM4694922 c.47G>A p.R16Q Substitution - Missense 12:121580865-121580865 - 587284 COSM1211717 c.1114C>T p.R372C Substitution - Missense 12:121444266-121444266 - HCC17T COSM3703909 c.648C>T p.N216N Substitution - coding silent 12:121548912-121548912 - TCGA-EE-A2GR-06 COSM3870941 c.2527+2T>G p.? Unknown 12:121440814-121440814 - TCGA-AZ-6598-01 COSM1359474 c.3253_3254delTG p.C1085fs*14 Deletion - Frameshift 12:121442187-121442188 - TCGA-AG-3726-01 COSM5067024 c.2103+9C>A p.? Unknown 12:121445266-121445266 - C99 COSM4620316 c.1914C>A p.G638G Substitution - coding silent 12:121453165-121453165 - TCGA-FW-A3R5-06 COSM3870945 c.1692C>T p.I564I Substitution - coding silent 12:121494621-121494621 - pfg127T COSM4765944 c.2070_2071insC p.D692fs*1 Insertion - Frameshift 12:121442287-121442288 - C086 COSM5533163 c.405C>T p.G135G Substitution - coding silent 12:121509726-121509726 - TCGA-AB-2803-03 COSM1318047 c.2794_2796delAAG p.K932delK Deletion - In frame 12:121442645-121442647 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.524800 12q24.31 609078 2445591|CGAP|BC115380|C/T|non-coding||2606|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer ACCAA - Frameshift p.W251Pfs*33 c.750_754delTTGGT 12 121972425 RCCC A C Missense p.C1159G c.3475T>G 12 121878754 COREAD A C SpliceDonorSNV . c.3610+2T>G 12 121878617 CM A G IntronicSNV . c.1734+2573T>C 12 121929809 CLL A G IntronicSNV . c.1735-11602T>C 12 121902749 CLL A T Missense p.C1083S c.3247T>A 12 121879997 HNSC A T Missense p.F241I c.721T>A 12 121972458 MM A T Missense p.W1182R c.3544T>A 12 121878685 LUAD C A Missense p.D112Y c.334G>T 12 122013702 RCCC C A Missense p.D1224Y c.3670G>T 12 121877819 OV C A Missense p.D244Y c.730G>T 12 121972449 CM C A Missense p.G745C c.2233G>T 12 121882033 LUAD C A Nonsense p.E428* c.1282G>T 12 121947735 BLCA C A Nonsense p.E704* c.2110G>T 12 121882333 BLCA C A Synonymous p.L1148L c.3444G>T 12 121878877 BRCA CC TT Missense p.G1325K c.3973_3974delinsAA 12 121868128 CM CC TT Missense p.G537S c.1608_1609delinsAA 12 121947408 CM C G Missense p.D1081H c.3241G>C 12 121880003 LUSC C G Missense p.R776P c.2327G>C 12 121881939 LUAD - CTGGA Frameshift p.Q205Hfs*5 c.614_615insTCCAG 12 121986850 CM C T IntronicSNV . c.1048-179G>A 12 121951384 NSCLC C T IntronicSNV . c.1048-3088G>A 12 121954293 HC C T IntronicSNV . c.1647+1036G>A 12 121946334 CLL C T Missense p.A581T c.1741G>A 12 121891141 MB C T Missense p.A917T c.2749G>A 12 121880495 GBM C T Missense p.C624Y c.1871G>A 12 121891011 ESCA C T Missense p.D1277N c.3829G>A 12 121877660 LUSC C T Missense p.E861K c.2581G>A 12 121880818 HNSC C T Missense p.E982K c.2944G>A 12 121880300 GBM C T Missense p.G326S c.976G>A 12 121958859 ESCA C T Missense p.R1124Q c.3371G>A 12 121878950 STAD C T Missense p.R1152Q c.3455G>A 12 121878774 HNSC C T Missense p.R158H c.473G>A 12 121987468 UCEC C T Missense p.R641H c.1922G>A 12 121890960 GBM C T Missense p.V1064I c.3190G>A 12 121880054 STAD C T Missense p.V234M c.700G>A 12 121972479 ESCA C T Missense p.V798M c.2392G>A 12 121881874 LUAD C T Missense p.V84M c.250G>A 12 122016728 LUSC C T Synonymous p.G587G c.1761G>A 12 121891121 CM C T Synonymous p.K117K c.351G>A 12 122012498 HNSC C T Synonymous p.L514L c.1542G>A 12 121947475 HNSC C T Synonymous p.L950L c.2850G>A 12 121880394 CM C T Synonymous p.P224P c.672G>A 12 121986793 UCEC C T Synonymous p.Q205Q c.615G>A 12 121986850 BRCA C T Synonymous p.V143V c.429G>A 12 121987512 BRCA G A 3-UTRSNV . c.4008+187C>T 12 121867907 CM G A 3-UTRSNV . c.4008+260C>T 12 121867834 CM G A 3-UTRSNV . c.4008+89C>T 12 121868005 RCCC G A IntronicSNV . c.2565+23C>T 12 121881460 CM G A Missense p.P15S c.43C>T 12 122018774 HNSC G A Missense p.P309S c.925C>T 12 121970717 CM G A Missense p.P541L c.1622C>T 12 121947395 CM G A Missense p.P560L c.1679C>T 12 121932437 CM G A Missense p.P639S c.1915C>T 12 121890967 CM G A Missense p.P987L c.2960C>T 12 121880284 CM G A Missense p.R66C c.196C>T 12 122016782 COREAD G A Missense p.R887W c.2659C>T 12 121880585 BRCA G A Missense p.S1128F c.3383C>T 12 121878938 CM G A Missense p.S1165L c.3494C>T 12 121878735 BLCA G A Missense p.S526F c.1577C>T 12 121947440 CM G A Missense p.S975L c.2924C>T 12 121880320 CM G A Missense p.T267M c.800C>T 12 121970842 STAD G A Synonymous p.A315A c.945C>T 12 121958890 LUSC G A Synonymous p.C616C c.1848C>T 12 121891034 STAD G A Synonymous p.D290D c.870C>T 12 121970772 CM G A Synonymous p.F255F c.765C>T 12 121972414 ESCA G A Synonymous p.F307F c.921C>T 12 121970721 CM G A Synonymous p.I1121I c.3363C>T 12 121878958 LUAD G A Synonymous p.I1215I c.3645C>T 12 121877844 CM G A Synonymous p.L195L c.583C>T 12 121986882 CM G A Synonymous p.P1033P c.3099C>T 12 121880145 CM G A Synonymous p.P902P c.2706C>T 12 121880538 PRAD G A Synonymous p.V125V c.375C>T 12 122012474 CM G A Synonymous p.Y274Y c.822C>T 12 121970820 UCEC G C 3-UTRSNV . c.4008+222C>G 12 121867872 BLCA G C Missense p.Q1326E c.3976C>G 12 121868126 CM G C Missense p.Q5E c.13C>G 12 122018804 UCEC G C Missense p.R1087G c.3259C>G 12 121879985 STAD G C Synonymous p.L748L c.2244C>G 12 121882022 BLCA GG AA IntronicBlockSubstitution . c.2604+76_2604+77delinsTT 12 121880718 CM GG AA Missense p.P14F c.40_41delinsTT 12 122018776 LUAD GG AA Missense p.R1152W c.3453_3454delinsTT 12 121878775 CM GG CT Missense p.P786R c.2356_2357delinsAG 12 121881909 COREAD G T 3-UTRSNV . c.4008+96C>A 12 121867998 HNSC G T IntronicSNV . c.2566-253C>A 12 121881086 DLBCL G T Missense p.T1266N c.3797C>A 12 121877692 THCA G T Synonymous p.I1273I c.3819C>A 12 121877670 ESCA G T Synonymous p.L1129L c.3387C>A 12 121878934 BRCA G T Synonymous p.R349R c.1045C>A 12 121958790 LUSC T A IntronicSNV . c.1048-3014A>T 12 121954219 MB T A Missense p.M684L c.2050A>T 12 121883131 HC T C 3-UTRSNV . c.4008+347A>G 12 121867747 HC T C IntronicSNV . c.3611-101A>G 12 121877979 HC T C Missense p.E953G c.2858A>G 12 121880386 AML T C Missense p.H799R c.2396A>G 12 121881870 CLL T C SpliceAcceptorSNV . c.127-2A>G 12 122016853 STAD T C Synonymous p.P1027P c.3081A>G 12 121880163 NB